{"OrphaCode": "ORPHA:3375", "name_zh": "X染色体三倍体", "Name": "47, XXX (Trisomy X)", "disease_name": "47, XXX (Trisomy X)", "synonyms": "47, XXX", "disease-overview": "47, XXX (Trisomy X) is a disorder that affects females and is characterized by the presence of an additional X chromosome. Normally, females have two X chromosomes, but females with 47, XXX have three X chromosomes. The characteristics (phenotype) associated with this chromosomal disorder varies widely, but most commonly includes language-based learning disabilities, developmental dyspraxia, tall stature, low muscle tone (hypotonia) and abnormal bending or curving of the pinkies toward the ring fingers (clinodactyly). 47, XXX occurs randomly due to errors during the division of reproductive cells in one of the parents. This disorder occurs in one in 900 to 1,000 livebirths.", "symptoms": "The severity of symptoms associated with 47, XXX may vary greatly from one person to another, but it is thought that many females are mildly affected or asymptomatic, as about 75% of girls remain undiagnosed for their whole lives (Frith, 2024). It is important to note that affected individuals may not have all the symptoms discussed below. Affected individuals should talk to their specialists and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "47, XXX is a chromosomal abnormality characterized by the presence of an extra X chromosome in females. Chromosomes are found in the nucleus of all the cells in the body and these chromosomes carry the genetic characteristics of all individuals. There are 23 pairs of human chromosomes with the 23rd pair determining the sex of an individual. Typical males have one X and one Y chromosome (46, XY) while typical females have two X chromosomes (46, XX).", "affected": "47, XXX is a chromosomal disorder that affects only females. Reported estimates of frequency have varied with the most common estimate being one in 1,000 female births. Since many females with the disorder may have few or no symptoms, researchers believe that the disorder is substantially underdiagnosed and that the reported number of affected females is inappropriately low (about 10%). With increased diagnosis, more in depth studies may be conducted and more girls with 47, XXX can be appropriately treated.", "related-disorders": "Symptoms of the following disorders can be similar to those of 47, XXX. Researchers currently think each additional X is associated with a more severe phenotypic outcome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "47, XXX may be suspected based upon the identification of characteristic neurodevelopmental, behavioral or learning disabilities. A diagnosis may be confirmed by specialized tests such as chromosomal microarray analysis performed on blood or buccal samples that can reveal the presence of an extra X chromosome in the body’s cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:8", "name_zh": "47，XYY综合征", "Name": "47,XYY syndrome", "disease_name": "48, XXYY Syndrome", "synonyms": "XXYY syndrome", "disease-overview": "48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. 48, XXYY syndrome has previously been described as a variant of Klinefelter syndrome because affected males have similar physical characteristics (tall stature and small, dysfunctional testes), however the medical and neurodevelopmental features are more complex than typically seen in 47, XXY/Klinefelter syndrome.", "symptoms": "In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted neck (torticollis) with flattening on one side of the head. Other physical features can include a skin fold of the upper eyelid covering the inner corner of the eye (epicanthal fold), an abnormally large distance between the eyes (hypertelorism) and an abnormally bend or curved 5th finger (clinodactyly). There are also increased risks for congenital heart defects, kidney malformations and skeletal abnormalities including pes planus, club foot, radioulnar synostosis, cubitus varus (with prominent elbows), scoliosis and kyphosis.", "causes": "48, XXYY syndrome is not inherited, Males with 48, XXYY have an extra X and Y chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm cells. There are no commonly known factors predisposing to the specific occurrence of these nondisjunction events resulting in 48, XXYY.", "affected": "There is an estimated incidence of 48, XXYY in 1/18,000 to 1/50,000 male births.", "related-disorders": "The hypergonadotropic hypogonadism present in 48, XXYY can be seen in other male sex chromosome aneuploidies including Klinefelter (47, XXY) syndrome, 48, XXXY syndrome and 49, XXXXY syndrome as well as 45, X/46, XY mosaicism and 46, XX sex reversal. Other genetic conditions that may have overlap with some of the behavioral and cognitive/neurodevelopmental features seen in 48, XXYY syndrome include Fragile X syndrome, Jacob syndrome, Prader Willi syndrome, Soto syndrome, Börjeson-Forssman-Lehman syndrome, Weaver syndrome and Cohen syndrome. Due to tall stature and joint laxity, some males with 48, XXYY are also identified during genetic evaluation for Marfan syndrome or other connective tissue disorders. Also, many of the neurodevelopmental disorders often diagnosed in males with XXYY syndrome are commonly found in 46, XY males as well, including intellectual disability, autism spectrum disorder, learning disabilities, language disorders and ADHD.", "diagnosis": "48, XXYY is usually identified by a standard karyotype or chromosomal microarray (CMA) performed on peripheral blood, amniotic fluid or buccal swab. Fluorescence In Situ Hybridization (FISH) is another approach to investigate the presence of extra copies of chromosomes X and Y on a larger sample of cells. Prenatal diagnosis is possible, but 48, XXYY is usually diagnosed during childhood during evaluation of physical and/or developmental concerns that warrant genetic testing. A 2008 study looking at 95 males with 48, XXYY syndrome reported the mean age of diagnosis to be 7.7 years of age.", "therapies": NaN}
{"OrphaCode": "ORPHA:597874", "name_zh": "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "Name": "5,10-Methenyltetrahydrofolate Synthetase Deficiency", "disease_name": "5,10-Methenyltetrahydrofolate Synthetase Deficiency", "synonyms": "neurodevelopmental disorder with microcephaly, epilepsy and hypomyelination", "disease-overview": "", "symptoms": "The first signs of MTHFS deficiency are developmental delay, global failure to thrive and microcephaly. Affected children start to show signs of rigidity and spasticity as they develop. Seizures may not be noticeable right away but affected children will eventually be diagnosed with different types of epilepsy. An MRI will show cerebral hypomyelination. Some patients have more severe disabilities than others.", "causes": "5,10-methenyltetrahydrofolate synthetase deficiency is caused by changes (disease-causing variants) in the MTHFS gene. This gene is responsible for producing the 5-MTHF protein. This protein plays an essential role in metabolizing the carbon chains of folinic acid and turning them into L-methyl folate. Disease-causing variants in the MTHFS gene affect the breakdown of folinic acid, causing folinic acid to build up and preventing the formation of myelin.", "affected": "MTHFS deficiency is a rare disorder, but the frequency is not known. Rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. This disorder has been reported around the globe (Iran, Haiti, United States; with ancestry from the British Isles, France, Portugal, Italy, Austria, Czech Republic).", "related-disorders": "Many other neurodevelopmental disorders can cause signs and symptoms that are similar to MTHFS deficiency.", "diagnosis": "MTHFS deficiency may be suspected based on symptoms including failure to thrive, global developmental delay and microcephaly.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:915", "name_zh": "阿-斯综合征", "Name": "Aarskog-Scott syndrome", "disease_name": "Aarskog Syndrome", "synonyms": "Aarskog disease", "disease-overview": "Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.", "symptoms": "Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional characteristic facial features include widely spaced eyes (ocular hypertelorism), drooping (ptosis) of the eyelids, downwardly slanting eyelid folds (palpebral fissures), a small nose with nostrils that are flared forward (anteverted nares), an underdeveloped upper jawbone (maxilliary hypoplasia), and a widow’s peak. Affected individuals may also have an abnormally long groove in the upper lip (philtrum) and a broad nasal bridge.", "causes": "Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes (mutations) in the FGD1 gene. Aarskog syndrome primarily affects males. However, females who carry a single copy of a FGD1 gene mutation (heterozygotes) may exhibit some of the symptoms associated with the disorder. FGD1 gene mutations have been identified in approximately 22% of affected males; therefore, it is likely that other genes not yet identified may also be associated with this condition.", "affected": "Approximately 60 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the general population. An estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings. Noonan syndrome is may be caused by mutations in a number of genes, including PTPN11, KRAS, SOS1, RAF1, NRAS, RIT1 and SOS2 (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:14", "name_zh": "无β脂蛋白血症", "Name": "Abetalipoproteinemia", "disease_name": "Abetalipoproteinemia", "synonyms": "ABL", "disease-overview": "", "symptoms": "Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes and blood.", "causes": "Abetalipoproteinemia is caused by changes (mutations or variants) in the MTTP gene and is inherited as an autosomal recessive genetic condition. Genetic diseases are determined by two alleles, one received from the father and one from the mother. An allele refers to one of two or more alternate forms of a particular gene.", "affected": "The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalipoproteinemia is more prevalent in populations with a high incidence of consanguineous marriages. Symptoms usually become apparent during infancy.", "related-disorders": "Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of abetalipoproteinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including tests to measure lipids (triglyceride and cholesterol) and apoB-containing lipoproteins in the plasma, determine the form and structure (morphology) of red blood cells and an eye (ophthalmological) exam.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:920", "name_zh": "无睑-巨口综合征", "Name": "Ablepharon-Macrostomia Syndrome", "disease_name": "Ablepharon-Macrostomia Syndrome", "synonyms": "AMS", "disease-overview": "", "symptoms": "AMS is apparent at birth from features of the head and facial (craniofacial) region. The absence of, or underdevelopment of eyelids and a wide mouth are cardinal features. The abnormalities around the eyes, poor eyelid development and absent eyebrows and eyelashes cause the upper and lower lids to turn outwards (ectropion), exposing the inner mucous membranes and prohibiting complete closure of the eyes (lagophthalmos). This results in dry eyes and corneal clouding, which, if left untreated, can lead to light sensitivity (photophobia) and vision loss. Other potential eye issues include inability to produce tears (alacrimia); repeated involuntary eye movements (nystagmus); an unequal, inward deviation of the eyes (strabismus); and/or complete or partial separation of the retina, the nerve-rich membrane lining the inner layer of the back of the eye, from membranes (choroids) in the outer layer (detached retina).", "causes": "AMS is caused by changes (mutations) in the gene called TWIST2. The mutation has often occurred spontaneously in the affected individual (so not inherited from one of the parents) but inheritance from one of the parents in an autosomal dominant pattern has been reported.", "affected": "Between 1977 and 2020, there have been 16 documented cases of AMS in the literature and a worldwide prevalence of less than <1/1,000,000. No apparent sex or ethnic disparity exists, and males and females present with similar signs and symptoms.", "related-disorders": "Barber-Say syndrome (BSS) and Setleis syndrome (also known as focal facial dermal dysplasia 3) fall within the spectrum of disorders resulting from TWIST2 mutations. Key features that differentiate BSS from AMS are presence of excessive hair (hypertrichosis), less marked eye findings, narrow ear canals and relatively normal hands and genitalia. Setleis syndrome presents with some overlap to AMS and BSS but is typically milder and can be differentiated by the finding of inward folding eyelids (entropion), bitemporal narrowing and absence of cheek pads.", "diagnosis": "A diagnosis of AMS may be suspected at birth based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic physical findings; typically, a reliable diagnosis is possible on clinical grounds only. Differentiation from BSS and Setleis syndrome may sometimes be difficult. The clinical diagnosis can be confirmed by molecular genetic testing for mutations in TWIST2.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:48818", "name_zh": "血浆铜蓝蛋白缺乏症", "Name": "Aceruloplasminemia", "disease_name": "Aceruloplasminemia", "synonyms": "familial apoceruloplasmin deficiency", "disease-overview": "Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene. This mutation is inherited in an autosomal recessive pattern.", "symptoms": "The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neurological symptoms and diabetes mellitus.", "causes": "Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene and is inherited in  an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Aceruloplasminemia is an extremely rare disorder that affects males and females in equal numbers. The exact incidence of aceruloplasminemia is unknown. It may be more prevalent in Japan, where it is estimated to affect 1 individual per 2,000,000 in the general population. Because many cases of aceruloplasminemia go undiagnosed or misdiagnosed, determining the disorder’s true frequency in the general population is difficult. Aceruloplasminemia was first described in the medical literature in 1992.", "related-disorders": "Symptoms of the following disorders can be similar to those of aceruloplasminemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of aceruloplasminemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal certain findings associated with aceruloplasminemia including absent blood ceruloplasmin and low concentrations of copper and iron in serum. Magnetic resonance imaging (MRI) of the brain and liver can reveal characteristic findings that indicate the accumulation of iron. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.  A genetic test to demonstrate mutations in the CP gene is the definitive diagnostic test.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:930", "name_zh": "特发性贲门失弛缓症", "Name": "Achalasia", "disease_name": "Achalasia", "synonyms": "cardiospasm", "disease-overview": "Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.", "symptoms": "The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.", "causes": "The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time.", "affected": "Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males are twice as likely as females to be diagnosed with this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Esophageal cancer", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:932", "name_zh": "软骨成长不全", "Name": "Achondrogenesis", "disease_name": "Achondrogenesis", "synonyms": "", "disease-overview": "", "symptoms": "Achondrogenesis is characterized by premature birth, abnormal accumulation of fluid in the body (hydrops fetalis), and a head that may be abnormal in shape and less ossified. The head may look disproportionately large, because the body is small. In addition, affected individuals have extremely short limbs and ribs, short neck, flat vertebrae and many other bones of the skeleton are not properly developed. In infants born with this disorder the abdomen is prominent and the thoracic cage is small. Other abnormalities are incomplete closure of the roof of the mouth (cleft palate), corneal clouding, and ear deformities. The disorder is life-threatening either before birth or shortly after birth usually due to underdeveloped thorax and small lungs.", "causes": "Each type of achondrogenesis is caused by a mutation in a specific gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Achondrogenesis affect males and females in equal numbers. Achondrogenesis type IA and type IB are very rare disorders and prevalence for them is unknown. Achondrogenesis type II occurs in approximately 1/40,000-1/60,000 newborns.", "related-disorders": "Skeletal dysplasias (osteochondrodysplasias) are a general term for a group of disorders characterized by abnormal growth or development or cartilage and bone. Some forms cause life-threatening complications shortly after birth, while others are only may or may not cause life-threatening complications. Some forms do not cause life-threatening complications early in life. Skeletal dysplasias can be associated with short-limbed short stature or with more proportional shortening of the trunk and limbs. Various additional abnormalities may be present depending upon the specific disorder. There are approximately 450 types of skeletal dysplasias with more than 360 causative genes. Several forms are discussed below; the differentiation among them is made by radiographic and molecular means.", "diagnosis": "Achondrogenesis is diagnosed by physical features, X-ray (radiographic) findings and examination of tissue samples under a microscope (histology). Molecular genetic tests for mutations in the SLC26A2 gene can be used to confirm the diagnosis of achondrogenesis type 1B.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:15", "name_zh": "软骨发育不全", "Name": "Achondroplasia", "disease_name": "Achondroplasia", "synonyms": "ACH", "disease-overview": "", "symptoms": "General", "causes": "Achondroplasia is caused by a specific change (pathogenic variant) in the FGFR3 gene. About 98% of cases result from the exact same change in the DNA in this gene.", "affected": "Achondroplasia appears to affect males and females in equal numbers. This disorder begins in the developing fetus and is the most common form of skeletal dysplasia that causes dwarfism. The estimated frequency of achondroplasia has ranged from about one in 20,000 to one in 30,000 live births.", "related-disorders": "Symptoms of the following disorders may be similar to those of Achondroplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands and feet (i.e., short-limbed dwarfism). Short stature often is not recognized until early to mid-childhood or, in some people, as late as adulthood. Affected individuals may also develop bowing of the legs during early childhood that often improves with age. Additional abnormalities may be present, such as an unusually large head (macrocephaly), a relatively prominent forehead, limited extension and rotation of the elbows and/or other physical features. In about 10 percent of patients, mild cognitive delays may be present. Hypochondroplasia can occur sporadically with no apparent family history. In other cases, the condition is follows autosomal dominant inheritance. Hypochondroplasia and achondroplasia may result from different variants of the FGFR3 gene. (For more information on this disorder, choose Hypochondroplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:618899", "name_zh": "", "Name": "Acid sphingomyelinase deficiency", "disease_name": "Acid Sphingomyelinase Deficiency", "synonyms": "ASMD", "disease-overview": "", "symptoms": "Because ASMD is a highly variable disorder, it is important to note that affected individuals will not have all of the symptoms described below and that every individual case is unique. Some children will develop severe, life-threatening complications early in life; others have mild disease that may go undiagnosed well into adulthood. Parents should talk to their child’s physician and medical team about the specific symptoms and overall prognosis.", "causes": "Acid sphingomyelinase deficiency is caused by a mutation in the sphingomyelin phophodiesterase-1 (SMPD1) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "ASMD affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown, but has been estimated at 1 in 250,000 individuals in the general population. However, because some cases go misdiagnosed or undiagnosed, determining the true frequency of ASMD in the general population is difficult. The severe, infantile form (Niemann-Pick type A) can affect different ethnic groups, but occurs with greater frequency in individuals of Ashkenazi Jewish descent. Later-onset forms (Niemann-Pick type B) can affect all ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of ASMD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ASMD is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "The treatment of ASMD may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, hepatologists, ophthalmologists, and other healthcare professionals may need to systematically and comprehensively plan a child’s treatment. Psychosocial support for the entire family is essential as well. Genetic counseling may be of benefit for affected individuals and their families."}
{"OrphaCode": "ORPHA:252175", "name_zh": "前庭神经鞘瘤", "Name": "Vestibular schwannoma", "disease_name": "Acoustic Neuroma", "synonyms": "acoustic neurilemoma", "disease-overview": "An acoustic neuroma, also known as a vestibular schwannoma, is a rare benign (non-cancerous) growth that develops on the eighth cranial nerve. This nerve runs from the inner ear to the brain and is responsible for hearing and balance (equilibrium). Although there is no standard or typical pattern of symptom development, hearing loss in one ear (unilateral) is the initial symptom in approximately 90 percent of affected individuals. Additional common findings include ringing in the ears (tinnitus) and dizziness or imbalance. The symptoms of an acoustic neuroma occur from the tumor pressing against the eighth cranial nerve and disrupting its ability to transmit nerve signals to the brain. An acoustic neuroma is not cancerous (malignant); it does not spread to other parts of the body. The reason an acoustic neuroma forms is unknown.", "symptoms": "Some individuals, especially those with small tumors, may not have any associated symptoms (asymptomatic). However, even small tumors, depending upon their location, can cause significant symptoms or physical findings.", "causes": "The exact cause of an acoustic neuroma is unknown. Most cases seem to arise for no apparent reason (spontaneously). No specific risk factors for the development of these tumors have been identified.", "affected": "Acoustic neuromas affect women more often than men. Most cases of acoustic neuroma develop in individuals between the ages of 30 and 60. Although quite rare, they can develop in children. Acoustic neuromas are estimated to affect about 1 in 100,000 people in the general population. Racial differences have been reported in which Black, Hispanic, and Asian Americans have relatively lower rates of acoustic neuroma diagnoses than White Americans.", "related-disorders": "Symptoms of the following disorders can be similar to those of acoustic neuromas. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of an acoustic neuroma is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests. Such tests include hearing exams, x-ray scans such as magnetic resonance imaging (MRI) or computed tomography (CT), a specialized test that evaluates balance (electronystagmography), and a brainstem auditory evoked response (BAER).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:88", "name_zh": "特发性再生障碍性贫血", "Name": "Idiopathic aplastic anemia", "disease_name": "Acquired Aplastic Anemia", "synonyms": "idiopathic aplastic anemia", "disease-overview": "", "symptoms": "The symptoms of acquired aplastic anemia occur as a consequence of the bone marrow failing to produce enough blood cells. Specific symptoms vary from case to case. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can progress to life-threatening complications.", "causes": "Most cases of acquired aplastic anemia occur unrelated to any identifiable causes, or for unknown reasons (idiopathic). Researchers believe that most are due to the immune system mistakenly targeting the bone marrow (autoimmunity). Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms begin to attack healthy tissue for unknown reasons. Tests to confirm this in any individual case are not readily available, but there is much evidence to support this pathogenic mechanism.", "affected": "Acquired aplastic anemia affects males and females in about equal numbers. Most cases affect older children, teenagers or young adults. The incidence of aplastic anemia in Europe and Israel is two new cases among 1 million people per year. The incidence rate is two or three times greater in Asia. The exact incidence rates exist for the United States is unknown although some sources say that approximately 500-1,000 new cases of aplastic anemia are diagnosed each year.", "related-disorders": "Symptoms of the following disorders can be similar to those of acquired aplastic anemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Myelodysplastic syndromes (myelodysplasias, MDS) are a rare group of blood disorders that occur as a result of improper development of blood cells within the bone marrow. The three main types of blood cells (i.e., red blood cells, white blood cells and platelets) are affected. Red blood cells deliver oxygen to the body, white blood cells help fight infections, and platelets assist in clotting to stop blood loss. These improperly developed blood cells fail to develop normally and enter the bloodstream. As a result, individuals with MDS have abnormally low blood cell levels (low blood counts). It is sometimes difficult to distinguish acquired aplastic anemia from MDS. In MDS, patients often suffer due to failure of the bone marrow to produce blood cell, and some MDS can develop into an acute leukemia. In MDS, there are often typical abnormalities of chromosomes of marrow cells and/or harmful mutations in specific genes present in hematopoietic stem. (For more information on this disorder, choose myelodysplastic syndromes as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:73274", "name_zh": "获得性血友病", "Name": "Acquired Hemophilia", "disease_name": "Acquired Hemophilia", "synonyms": "acquired hemophilia A (AHA)", "disease-overview": "", "symptoms": "The symptoms of AH develop because the blood cannot clot properly. Clotting is the process by which blood clumps together to plug the site of a wound. Clotting factors, such as factor VIII, are specialized proteins that are essential for the blood to clot properly.", "causes": "AH is an autoimmune disorder. It occurs when the immune system produces antibodies that mistakenly attack healthy tissue, specifically specialized proteins known as clotting factors, most often clotting factor VIII.", "affected": "AH develops in individuals with no previous history of bleeding disorder with approximately equal numbers of males and females affected. In the United States, the disorder is estimated to affect approximately .2-1 individuals per 1,000,000/year in the general population. In the United Kingdom, the disorder is estimated to affect 1.4 per 1,000,000/year. However, affected individuals may go undiagnosed or misdiagnosed, making it difficult to determine the  true frequency of the disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of AH. Comparisons may be useful for a differential diagnosis. Hemophilia is a general term for a group of rare bleeding disorders. Most forms of hemophilia are inherited blood clotting (coagulation) disorder caused by inactive or deficient blood proteins. There are three major forms of inherited hemophilia: hemophilia A (also known as classical hemophilia, factor VIII deficiency or antihemophilic globulin [AHG] deficiency), the most common form; hemophilia B (Christmas disease or factor IX deficiency); and hemophilia C (factor XI deficiency). Hemophilia A and B are inherited as X-linked recessive genetic disorders, while hemophilia C is inherited as an autosomal recessive genetic disorder. Hemophilia A and B are mostly expressed in males, but females can also be affected. Hemophilia C affects males and females in equal numbers. Hemophilia may be classified as mild, moderate, or severe; the level of severity is determined by the percentage of active clotting factor in the blood (normal percentage ranges from 50 to 150 percent). People who have severe hemophilia have less than one percent of active clotting factor in their blood. (For more information on these disorders, choose hemophilia as your search term in the Rare Disease Database.)", "diagnosis": "AH should be suspected by the clinical picture and confirmed by an abnormal coagulation test. A diagnosis should be considered in patients with a recent onset of abnormal bleeding and an isolated prolongation of the activated partial thromboplastin time (aPTT), especially the elderly and peri- and post-partum women.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98307", "name_zh": "获得性脂肪营养不良", "Name": "Acquired Lipodystrophy", "disease_name": "Acquired Lipodystrophy", "synonyms": "", "disease-overview": "", "symptoms": "Acquired lipodystrophy encompasses several subtypes. The specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of acquired lipodystrophy and the presence and extent of associated symptoms. The specific symptoms and severity can also vary among individuals with the same subtype. It is important to note that affected individuals will not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.", "causes": "Acquired lipodystrophies can be caused by medications, autoimmune reactions or other unknown mechanisms. Acquired lipodystrophies do not have a direct genetic basis. Some researchers have speculated that individuals may have a genetic predisposition to developing certain forms of acquired lipodystrophy, however, this remains unproven and controversial. Most likely, several different underlying mechanisms are involved in the development of acquired lipodystrophies.", "affected": "AGL and APL generally affect women more than men, although this may be due in part to ascertainment bias because women tend to be more severely affected and more easily recognized. APL has been reported in approximately 250 individuals with a male to female ratio of 1:4. It has been reported in individuals of various different ethnicities. AGL has been reported in approximately 100 individuals with a male to female ratio of 1:3. Most cases have been reported in Caucasians. LD-HIV is estimated to affect approximately 100,000 individuals in the United States. Consistent with the increase prevalence of HIV in males, LD-HIV is also more prevalent in males.", "related-disorders": "Symptoms of the following disorders can be similar to those of acquired lipodystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of acquired lipodystrophies is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. AGL may be suspected in individuals who have a generalized lack of subcutaneous fat and overall muscular appearance during childhood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:84142", "name_zh": "Isaac综合征", "Name": "Isaacs syndrome", "disease_name": "Acquired Neuromyotonia", "synonyms": "Isaacs-Merten syndrome", "disease-overview": "Acquired neuromyotonia is an inflammatory disorder characterized by abnormal nerve impulses from the peripheral nerves that result in continuous muscle fiber activity. Affected individuals often experience progressive muscle stiffness and cramping especially in the hands and feet, increased sweating (hyperhidrosis), and delayed muscle relaxation. Symptoms may persist even during sleep or under general anesthesia.", "symptoms": "Acquired neuromyotonia is characterized by involuntary continuous muscle fiber activity (fasciculations, doublet and triplet discharges on electromyography) that cause stiffness and delayed relaxation in the affected muscles. Muscle twitching with a rippling appearance (myokymia) may occur along with these symptoms. Affected individuals may, at times, be unable to coordinate voluntary muscle movement and find difficulty in walking (ataxia). Other symptoms may include staggering and reeling (titubation), stiffness, and lack of balance in response to being startled. There may be diminished spontaneous gross motor activity.", "causes": "Acquired neuromyotonia is an autoimmune disease in which the immune system malfunctions so that it damages parts of one’s own body. Approximately 40% of affected individuals have antibodies to voltage-gated potassium channels (VGKC’s) that affect the points at which the signals from the nerve fiber meet the muscle cell (neuromuscular junction).", "affected": "Aquired neuromyotonia is a rare disorder affecting males and females but is slightly more common among men. Disease onset is usually between the ages of 15 and 60 years but has also been reported in childhood.", "related-disorders": "Symptoms of the following disorders can be similar to those of acquired neuromyotonia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Amyotrophic lateral sclerosis (ALS) is one of a group of disorders known as motor neuron diseases. It is characterized by the progressive degeneration and eventual death of nerve cells (motor neurons) in the brain, brainstem and spinal cord that facilitate communication between the nervous system and voluntary muscles of the body. Ordinarily, motor neurons in the brain (upper motor neurons) sent messages to motor neurons in the spinal cord (lower motor neurons) and then to various muscles. ALS affects both the upper and lower motor neurons, so that the transmission of messages is interrupted, and muscles gradually weaken and waste away. As a result, the ability to initiate and control voluntary movement is lost. Ultimately, ALS leads to respiratory failure because affected individuals lose the ability to control muscles in the chest and diaphragm. ALS is often called Lou Gehrig’s disease. (For more information on these disorders, choose ALS as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36", "name_zh": "肢端胼胝体综合征", "Name": "Acrocallosal Syndrome, Schinzel Type", "disease_name": "Acrocallosal Syndrome, Schinzel Type", "synonyms": "Absence of Corpus Callosum, Schinzel Type", "disease-overview": "Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Characteristic craniofacial abnormalities may include an unusually large head (macrocephaly) with a prominent forehead, widely spaced eyes (ocular hypertelorism), downslanting eyelid folds (palpebral fissures), a small nose with a broad nasal bridge; and malformed (dysplastic) ears. Most affected individuals also have distinctive digital malformations, such as the presence of extra (supernumerary) fingers and toes (polydactyly) and webbing or fusion (syndactyly) of certain digits. Additional physical abnormalities may also be present, including growth retardation, resulting in short stature. Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically).", "symptoms": "In individuals with acrocallosal syndrome, Schinzel type, the range and severity of associated findings may be extremely variable.  However, in all reported cases to date, the disorder has been characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) as well as moderate to severe mental retardation.  In some cases, brain malformations may be associated with additional complications, such as sudden episodes of uncontrolled electrical activity in the brain (seizures) or hydrocephalus, a condition in which impaired flow or absorption of the fluid that circulates through cavities (ventricles) of the brain and the spinal canal (cerebrospinal fluid [CSF]) potentially leads to increasing fluid pressure in the brain.  Individuals with acrocallosal syndrome may also have abnormally diminished muscle tone (hypotonia) and experience severe psychomotor retardation–or marked delays in the development of certain physical, mental, or behavioral skills that are typically acquired at particular stages (i.e, developmental milestones).  Over 50 percent of affected individuals also have abnormal growth delays, often resulting in short stature.", "causes": "According to many investigators, acrocallosal syndrome, Schinzel type may be inherited as an autosomal recessive trait.  Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Acrocallosal syndrome, Schinzel type appears to affect males and females in relatively equal numbers.  The disorder was originally reported in 1979 (A. Schinzel).  Over 25 cases have been recorded in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of acrocallosal syndrome, Schinzel type.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Greig cephalopolysyndactyly syndrome is a rare genetic disorder characterized by distinctive abnormalities of the skull and facial (craniofacial) region, the hands, and the feet.  Craniofacial abnormalities may include an abnormally large head (macrocephaly) with a high, prominent forehead; widely spaced eyes (ocular hypertelorism); and a broad nasal root.  In many cases, there is also duplication of the great toes (preaxial polydactyly) as well as webbing or fusion (syndactyly) of certain toes, primarily the first to the third toes.  Abnormalities of the hands may include unusually broad thumbs; duplication of certain fingers toward the pinky side of the hands (postaxial polydactyly); and webbing or fusion of certain fingers, particularly the third and fourth fingers.  Rarely, malformation or absence of the corpus callosum; as well as mental retardation, have been reported in association with Greig cephalopolysyndactyly syndrome.  In most cases, the disorder appears to be inherited as an autosomal dominant trait.  (For more information on this disorder, choose Greig cephalopolysyndactyly as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:622014", "name_zh": "", "Name": "Autoimmune encephalitis", "disease_name": "Acrodermatitis Enteropathica", "synonyms": "AE", "disease-overview": "Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that occurs in one of three forms: an inborn (congenital) form and two acquired forms. The inborn form of AE is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The lack of zinc presents, characteristically, as: (1) skin inflammation with pimples (pustular dermatitis) occurring around the mouth and/or anus, (2) diarrhea, and (3) abnormal nails (nail dystrophy). In the acute phase, irritability and emotional disturbances are evident due to wasting (atrophy) of the brain cortex. It is important to recognize and treat this disorder.", "symptoms": "Acrodermatitis enteropathica is characterized by chronic diarrhea which may be mild or severe, and the presence of fatty substances in the feces (steatorrhea). In the congenital form symptoms start gradually, frequently at the time of weaning of an infant. The skin around body openings such as the mouth, anus, and eyes, and the skin on elbows, knees, hands, and feet become inflamed. Skin lesions are usually blistered (vesicobullous) and after drying out become psoriasis-like. The skin around the nails may also be inflamed and the nail may be abnormal due to malnourished tissue. Hair loss on the scalp, eyelids, and eyebrows may be total (alopecia). Inflammation of the membrane that lines the eyelid (conjunctivitis), usually also occurs.", "causes": "The congenital form of acrodermatitis enteropathica is transmitted as an autosomal recessive genetic disorder. It appears to be the result of mutations in the SLC39A4 gene.", "affected": "The congenital form of arodermatitis enteropathica is a rare disorder beginning during infancy. The incidence is about 1 in 500,000 births and the condition affects males and females in equal numbers. Healthy breast-fed infants of female patients with the disorder can also become affected. The acquired form of AE is rare because in recent years zinc supplements have been added to the parenteral nutrition regimen, although acquired forms are more common in some regions such as Southeast Asia and sub-Saharan Africa where gastro-intestinal malabsorption syndrome are more frequent.", "related-disorders": "Symptoms of the following disorder can be similar to those of acrodermatitis enteropathica. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Celiac sprue (gluten enteropathy) is a chronic, hereditary, intestinal malabsorption disorder caused by intolerance to dietary gluten. The illness is characterized by a flat mucous lining of the jejunum (part of the small intestine). Symptoms include weight loss, chronic diarrhea, abdominal cramping and bloating, intestinal gas, and muscle wasting. Clinical and/or histologic improvement of symptoms, follow withdrawal of dietary gluten. (For more information on this disorder, choose Celiac Sprue as your search term in the Rare Disease Database.)", "therapies": "Acrodermatitis enteropathica is treated with zinc supplements in the form of zinc sulfate. These supplements should be given as soon as diagnosis of the disorder is made and they have to be continued for life. The drug Diodoquin (iodoquinol) is another treatment that usually clears up symptoms within a week. If the disorder is caused by intravenous feeding, adding zinc supplements to the nutritional regimen can prevent and/or clear up manifestations of AE."}
{"OrphaCode": "ORPHA:950", "name_zh": "肢端骨发育不全", "Name": "Acrodysostosis", "disease_name": "Acrodysostosis", "synonyms": "acrodysostosis with or without hormone resistance", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Acrodysostosis is caused by a mutation in either the PRKAR1A gene or the PDE4D gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Acrodysostosis affects males and females in equal numbers. The disorder is present at birth (congenital) but may not be apparent until years after birth. The exact incidence and prevalence of the disorder is unknown. Because many cases can go misdiagnosed or undiagnosed, determining the true frequency of acrodysostosis in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of acrodysostosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of acrodysostosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including X-rays.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:963", "name_zh": "肢端肥大症", "Name": "Acromegaly", "disease_name": "Acromegaly", "synonyms": "", "disease-overview": "Acromegaly is a rare, slowly progressive, acquired disorder that affects adults. It occurs when the pituitary gland produces too much growth hormone (GH). The pituitary gland is a small gland located near the base of the skull that stores several hormones and releases them into the bloodstream as needed by the body. These hormones regulate many different bodily functions. In most patients, acromegaly is caused by the growth of a benign tumor (adenoma), arising from the pituitary gland. Symptoms of acromegaly include abnormal enlargement in bones of the hands, arms, feet, legs and head. Enlargement of the bones in the jaws and in the front of the skull are typically the most apparent bony changes. Acromegaly may also cause thickening of the soft tissues of the body, including the heart, lips and tongue. If untreated, acromegaly can potentially cause serious illness and life-threatening complications. When excessive secretion of growth hormone occurs before puberty, the disorder is known as gigantism, not acromegaly.", "symptoms": "The symptoms of acromegaly generally occur slowly and become more noticeable as affected individuals age. The specific symptoms that develop may vary greatly from one person to another. Acromegaly can potentially cause a wide variety of symptoms and physical findings.", "causes": "Acromegaly is a rare disorder that is caused by excess levels of growth hormone (GH) in the body. In most patients, excess levels of GH are causes by a benign (noncancerous) tumor in the pituitary gland (pituitary adenoma). Most adenomas form from excessive growth of a pituitary cell called a somatotrope cell (the pituitary cell that normally secretes GH). In the overwhelming majority of patients, the disease is sporadic and not due to an inherited genetic mutation.", "affected": "Acromegaly is a rare disorder that affects males and females in equal numbers. This disorder occurs in approximately 50 to 70 people per million. Researchers estimate that three to eleven people out of every million develop the disorder each year. However, because the symptoms of acromegaly may develop slowly, the disorder may often remain unrecognized and may therefore be underdiagnosed, making it difficult to determine the true frequency of acromegaly in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of acromegaly. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Gigantism is an abnormal condition characterized by excessive height and size. This disorder typically occurs before puberty as a result of the over secretion of growth hormone by the pituitary gland. Gigantism is associated with enlarged soft tissues and late closure of the epiphyses (heads of the long bones), which results in excessive growth during childhood. Height may reach 7 or 8 feet. Low levels of gonadotropin (gonad stimulating) hormones may be secreted by the pituitary gland later in the course of this disorder and result in low levels of hormone secretions by the ovaries or testes. Sexual development may be normal or it may be affected by the low levels of circulating sex hormones. Some children with gigantism may experience tingling and/or burning sensations in the arms and/or legs (peripheral neuropathy).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:968", "name_zh": "肢端肢中发育不良，Hunter-Thompson型", "Name": "Acromesomelic dysplasia, Hunter-Thompson type", "disease_name": "Acromesomelic Dysplasia", "synonyms": "acromesomelic dwarfism", "disease-overview": "Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life.", "symptoms": "Acromesomelic dysplasia (AMD) is characterized by inhibition of growth of certain long bones (i.e. bones of the forearms and lower legs). As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typically become apparent during the first years of life. Abnormal cartilage and bone development also affect other bones, particularly those of the hands and feet (i.e. metacarpals, phalanges, metatarsals).", "causes": "There are thought to be five types of acromesomelic dysplasia. Each is extremely rare, and each is inherited as an autosomal recessive genetic trait, except for AMD Osebold-Remondini type, which appears to be autosomal dominant. The Maroteaux type has been traced to chromosome 9 at gene map locus 9p13-12. Grebe dysplasia (including AMD Hunter-Thompson type) and Du Pan syndrome all have each been mapped to chromosome 20 at gene map locus 20q11.2. Acromesomelic dysplasia with genital anomalies maps to 4q23-24. Osebold-Remondini type has not been genetically mapped yet.", "affected": "As of 2005, there were about 10 affected individuals of Hunter-Thompson type ADM and about 40 to 50 patients of Maroteaux type AMD reported in the medical literature. The number of cases of Grebe type ADM is not known, but that type is believed to be almost entirely limited to persons living in Brazil.", "related-disorders": "Achondroplasia is the most common disorder of short-limbed dwarfism. Affected individuals have arms and legs that are very short, while the torso is more nearly normal in size. During fetal development and childhood, cartilage normally develops into bone, except in a few places, such as the nose and ears. In individuals with achondroplasia, something goes wrong during this process, especially in the long bones (such as those of the upper arms and thighs). The rate at which cartilage cells in the growth plates of the long bones turn into bone is slow, leading to short bones and reduced height. This syndrome is caused by specific mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Achondroplasia differs from AMD in that the upper bones of the arms and legs (the humerus and femur) are the most affected in achondroplasia, while it is the lower bones (radius and ulna in the arm, tibia and fibula in the leg) and the hands and the feet that are the most affected in AMD. (For more information on this disorder, choose  Achondroplasia  as your search term in the Rare Disease Database.)", "diagnosis": "In most patients, acromesomelic dysplasia is diagnosed within the first few years of life based upon a thorough clinical evaluation, detailed patient history, identification of characteristic findings, and advanced imaging techniques. Although the hands and feet may appear unusually short and broad at birth, the progressive abnormalities associated with the disorder (e.g. abnormal shortening of bones in the forearms and lower legs and short stature, further shortening and broadening of bones of the hands and feet, progressive vertebral abnormalities, limited elbow and arm extension, etc.) typically do not become apparent until late infancy or early childhood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:969", "name_zh": "肢端发育不良", "Name": "Acromicric Dysplasia", "disease_name": "Acromicric Dysplasia", "synonyms": "Acromicric Skeletal Dysplasia", "disease-overview": "Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.", "symptoms": "Acromicric Dysplasia is an extremely rare inherited disorder that usually becomes apparent during late infancy. It is characterized by abnormally short hands and feet, growth delays leading to short stature, and mild facial abnormalities.", "causes": "Acromicric Dysplasia is an extremely rare disorder that, in most cases, appears to occur randomly for no apparent reason (sporadically).  However, autosomal dominant inheritance has not been ruled out.", "affected": "Acromicric Dysplasia is an extremely rare disorder that, in theory, affects males and females in equal numbers. Only a very small number of cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Acromicric Dysplasia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acromicric Dysplasia may be diagnosed based upon a thorough clinical evaluation, characteristic physical findings (e.g., abnormally short hands), a detailed patient history, and a variety of specialized tests such as advanced imaging techniques. X-rays may reveal characteristic abnormalities of the bones in the hands and feet (e.g., abnormally short broad phalanges, metacarpals, and metatarsals; epiphyseal coning of the phalanges in the toes; pointing of the last four metacarpals; and the presence of an abnormal notch on the radial side of the 2nd metacarpal and ulnar side of the 5th metacarpal). The removal and study of cartilage cells (biopsy) under a microscope may reveal distinctive abnormalities affecting the growth cartilage. These abnormalities may include disorganization of the growing portion of certain bones, especially abnormal organization of cells that form cartilage (chondrocytes) and of a protein substance (collagen) that forms fibers within the ligaments, tendons, and connective tissue. In addition, an abnormally high number of such cells may demonstrate degeneration.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:199299", "name_zh": "迟发性单独促肾上腺皮质激素缺乏症", "Name": "ACTH Deficiency", "disease_name": "ACTH Deficiency", "synonyms": "adrenocorticotropic hormone deficiency, isolated", "disease-overview": "ACTH deficiency arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. A decline in the concentration of ACTH in the blood leads to a reduction in the secretion of adrenal hormones, resulting in adrenal insufficiency (hypoadrenalism). Adrenal insufficiency leads to weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). Because these symptoms are so general, the diagnosis is sometimes delayed or missed entirely. For that reason, some clinicians believe the disorder to be more common than previously thought.", "symptoms": "ACTH deficiency can either be congenital or acquired, and its manifestations are clinically indistinguishable from those of glucocorticoid deficiency. Symptoms include weight loss, lack of appetite (anorexia), muscle weakness, nausea and vomiting, and low blood pressure (hypotension). Low blood levels of sugar and dilutional hyponatremia (low blood sodium levels) may occur; however, blood potassium levels are typically normal as affected patients are deficient in glucocorticoids and not mineralocorticoids due to their intact renin-angiotensin-aldosterone system. The pituitary hormone ACTH may be undetectable in blood tests, and the level of the adrenal hormone cortisol is abnormally low. Concentrations of 17-hydroxycorticosteroids and 17-ketosteroids, produced from the adrenal cortex, are also abnormally low in the urine. Some adrenal hormones that are decreased are precursors of male sex hormones and are also known as pre-androgens.", "causes": "The exact cause(s) of ACTH deficiency remain unknown. A defect in the brain’s hypothalamus or in the pituitary gland may cause the deficiency. Also, there is a congenital (present at birth) form of ACTH deficiency that has been tracked to mutations of the T-box 19 (TBX19) gene (also referred to as TPIT) on the long arm of chromosome one (1q23-q24) and the corticotropin releasing hormone (CRH) gene on the long arm of chromosome eight (8q13). The inheritance pattern is thought to be autosomal recessive.", "affected": "Symptoms of ACTH deficiency most often occur in adults, but the disorder may also be diagnosed in infancy. The disorder affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of ACTH Deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Congenital adrenal hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged. In certain forms of CAH, the adrenal gland produces excessive amounts of male sex hormones (pre-androgens) in both males and females. The external genitals of some females with this disorder become masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various metabolic problems. Lack of mineralocorticoids, primarily aldosterone, causes salt and water imbalances which may be life threatening. (For more information on this disorder, choose Congenital Adrenal Hyperplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:83597", "name_zh": "急性播散性脑脊髓炎", "Name": "Acute disseminated encephalomyelitis", "disease_name": "Acute Disseminated Encephalomyelitis", "synonyms": "ADEM", "disease-overview": "", "symptoms": "Symptoms of ADEM can present within days to weeks following an infection. In a subset of patients, there is no identifiable infectious trigger for ADEM. Most commonly, ADEM occurs only once in a particular individual, meaning the disease is most often considered a monophasic disorder; however, a small percentage of patients may exhibit future attacks of ADEM (termed multiphasic ADEM).", "causes": "The exact cause of ADEM is not known but it may be associated with an atypical immune response following an infectious trigger. An initial illness or infection is observed in 70-80% of patients with ADEM. For instance, ADEM can develop following an upper respiratory tract viral infection. Other ADEM inducing infections include influenza, measles, mumps, rubella, varicella-zoster, Epstein Barr virus, cytomegalovirus and herpes simplex virus.", "affected": "ADEM can develop at any age but is much more frequent in younger children. Outcomes and severity of ADEM are typically worse in adults than in children. Males and females are affected, but males may be affected more often. In children, the mean age of onset is between 5-8 years old, but ADEM has been diagnosed in children as young as 7 months.", "related-disorders": "Symptoms of the following disorders can be similar to those of ADEM.", "diagnosis": "A diagnosis of ADEM is made based on the identification of characteristic symptoms, a detailed patient history, thorough clinical evaluation and a variety of specialized tests including imaging techniques such as magnetic resonance imaging (MRI). An MRI uses a magnetic field and radio waves to produce cross-sectional images of organs and bodily tissues and can demonstrate characteristic brain lesions in individuals with ADEM. Additional tests such as spinal fluid testing may be needed to exclude other conditions.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:724", "name_zh": "特发性急性嗜酸粒细胞肺炎", "Name": "Acute Eosinophilic Pneumonia", "disease_name": "Acute Eosinophilic Pneumonia", "synonyms": "AEP", "disease-overview": "", "symptoms": "AEP is characterized by a sudden, rapid onset of symptoms usually within 1-7 days. However, in some cases, symptoms may develop less rapidly over the course of up to one month. AEP often develops in young, otherwise healthy individuals. Associated symptoms are nonspecific and can include fever, cough, difficulty breathing (dyspnea) and chest pain. Less common symptoms include fatigue, muscle pain (myalgia), joint aches, and abdominal discomfort or pain.", "causes": "The cause of IAEP is unknown (idiopathic). Researchers believe that AEP develops due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils and recruit them to the lungs. The exact reason for the overproduction and accumulation of eosinophils is unknown.", "affected": "AEP affects males approximately twice as often as females. Fewer than 200 cases have been reported in the medical literature and the exact prevalence is unknown. AEP can affect individuals of any age, but occurs most often in individuals between 20-40 years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of AEP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests especially bronchoalveolar lavage (BAL). The presence of other causes of pulmonary eosinophilia such as parasitic infections or exposure to certain drugs must be systematically investigated.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:103919", "name_zh": "自身免疫性胰腺炎", "Name": "Autoimmune pancreatitis", "disease_name": "Acute Intermittent Porphyria", "synonyms": "AIP", "disease-overview": "", "symptoms": "AIP can be associated with a range of symptoms and physical findings that can potentially involve multiple organ systems of the body. The course and severity of attacks is highly variable from one person to another. In some cases, particularly those without proper diagnosis and treatment, the disorder can potentially cause life-threatening complications. It is important to note the highly variable nature of AIP and that affected individuals may not have all of the symptoms discussed below. Affected individuals and parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "AIP is a multifactorial disorder, which means that several different factors such as genetic and environmental factors occurring in combination are necessary for developing symptoms of the disorder. Individuals with AIP have a mutation in the HMBS gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "In Europe the prevalence of symptomatic AIP is reported to be 5.9 per million people in the general population., It is likely to be similar elsewhere in the world apart from Sweden where it is higher due to a founder effect. Recent population based genetic studies have shown that approximately 1 in 2000 of the population inherit a disease causing (pathogenic) mutation in the HMBS gene. This suggests that only 1% of those who inherit a pathogenic mutation will ever experience porphyria symptoms. AIP can occur in individuals of all ethnic backgrounds, although it may be less frequently reported in African-American individuals. Women are affected by symptomatic AIP more often than men. The disorder is most common in young or middle-aged women.", "related-disorders": "Symptoms of the following disorders can be similar to those of AIP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AIP can be difficult because most symptoms are nonspecific and occur episodically. A diagnosis is usually based upon identification of characteristic symptoms from a detailed patient history, a thorough clinical evaluation and certain specialized tests. AIP should be suspected in individuals with unexplained abdominal pain, especially repeated episodes and when occurring along with psychological symptoms, neurological findings with muscle weakness or unexplained hyponatraemia. Dark or reddish urine in such individuals is also suggestive of AIP. However, absence of this feature does not exclude AIP.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:519", "name_zh": "急性髓性白血病", "Name": "Acute myeloid leukemia", "disease_name": "Acute Myeloid Leukemia", "synonyms": "acute granulocytic leukemia", "disease-overview": "", "symptoms": "Some symptoms of acute myeloid leukemia result from disruption of the normal formation of blood cells. There are three main types of blood cells – red blood cells, white blood cells, and platelets. These cells are formed in the bone marrow and they arise from hematopoietic stem cells, a type of adult stem cell.", "causes": "Leukemias are clonal disorders, which means that cancer arises from a change in one original cell. In AML, this occurs in a hematopoietic stem cell, specifically a myeloblast. A myeloblast is an immature precursor cell found in the bone marrow. This means that a myeloblast will change (mature or differentiate) into a healthy white blood cell called an agranulocyte or a monocyte. In AML, myeloblasts do not mature, and grow and multiply out-of-control. Because myeloblasts are immature cells, they cannot perform the normal functions of mature blood cells. These abnormal cells build up in the bone marrow, preventing the development of healthy red blood cells, white blood cells, and platelets. Leukemic myeloblasts also survive better than normal blood cells. People with AML eventually develop pancytopenia, a condition in which they lack healthy red and white blood cells and platelets.", "affected": "Acute myeloid leukemia is the most common form of acute leukemia in adults, making up about 80% of people with acute leukemia. In the United States, it is estimated that 3-5 people per every 100,000 people in the general population has the disease. More than half the people diagnosed with AML are 65 years of age or older. Slightly more men than women are affected by the disease, and it occurs with slightly more frequency in people of European heritage.", "related-disorders": "Symptoms of the following disorders can be similar to those of acute myeloid leukemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of acute myeloid leukemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. During a complete physical examination, physicians may feel (i.e., palpate) the lymph nodes in certain regions to detect any swelling.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:520", "name_zh": "急性早幼粒细胞白血病", "Name": "Acute promyelocytic leukemia", "disease_name": "Acute Promyelocytic Leukemia", "synonyms": "APL", "disease-overview": "", "symptoms": "APL most commonly occurs in middle-aged individuals. The median age at diagnosis is around 40 years, meaning that half of cases occur in people under that age and the other half in people above that age. In APL, the bone marrow is overcrowded with malignant cells and eventually fails to produce normal blood cells required for normal functioning. Depletion of red blood cells (anemia) leads to symptoms such as fatigue and pallor, while a decreased number of functional white blood cells predispose affected individuals to infections. A decreased number of platelets (thrombocytopenia) increases the risk of bleeding and bruising.", "causes": "APL is caused by the uncontrolled proliferation of promyelocytes, a type of immature cell from the myeloid lineage of blood cells. The hallmark of APL is genetic alterations involving the retinoic acid receptor alpha (RARA) gene. Retinoic acid (a derivative of vitamin A) is critical in the process of cellular maturation and specialization (differentiation) of many cells, including myeloid precursors. In normal cells, the RARA protein is bound to proteins and forms a complex that prevents genes involved in cellular differentiation from being read; this is called transcriptional repression. When retinoic acid binds to this protein complex, transcriptional repression is relieved, genes involved in cellular differentiation can be read, and promyelocytes can continue their maturation and differentiation process into mature granulocytes. In most patients with  APL, RARA gene alterations occur due to exchange of genetic material (translocation) between chromosomes 15 and 17, where the RARA and PML genes are located, respectively. This translocation results in a fusion gene termed PML/RARA, which leads to an abnormal retinoic acid receptor that blocks the differentiation process that is normally induced by retinoic acid. The myeloid precursors are therefore stuck in the promyelocyte stage and accumulate in the bone marrow, and eventually the blood. The fusion gene PML/RARA that leads to APL is an acquired mutation and is not inherited. When patients enter a remission, cells containing the PML/RARA fusion gene are no longer detectable.", "affected": "APL comprises 5 to 10% of all cases of adult acute myeloid leukemia. Each year in the United States, it develops in around 2.2 people per million, for a total of 600 to 800 individuals. Although APL can occur at any age, middle-aged adults are most commonly affected; the median age at diagnosis is around 40. Epidemiological studies have shown that APL is slightly more common in Hispanics and slightly less common in African Americans compared to other ethnic groups. In very rare cases, APL can occur after chemotherapy or radiation therapy for other cancers, especially when therapy involves a class of medication known as topoisomerase II inhibitors; this is called therapy-related APL.", "related-disorders": "The symptoms of APL are often nonspecific and difficult to recognize. The following disorders are among those that most commonly present with symptoms resembling those of APL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of APL is based on a combination of patient history, physical examination and numerous laboratory tests. In cases where patients present with symptoms such as fever, fatigue and bruising or bleeding, a complete blood count (CBC) is usually performed to evaluate the number of red blood cells (erythrocytes), white blood cells (leukocytes) and platelets (thrombocytes). In APL, platelets and red blood cells are often low, and white blood cells might be low, normal or elevated (however, the number of functional white blood cells is usually decreased). The combination of low platelets (thrombocytopenia), red blood cells (anemia) and white blood cells (leukopenia) is known as pancytopenia and is a warning sign that requires further speedy investigation. The cells taken from a blood sample can also be evaluated by a physician specialized in disorders related to the blood (hematologist) to see if they are abnormal and potentially leukemic. Further evaluation usually requires bone marrow examination to assess for the presence of abnormal cells. Bone marrow samples are obtained by bone marrow aspiration and biopsy, which are respectively used to collect the liquid and solid portions of the bone marrow. The location of choice for bone marrow aspiration and biopsy is the hip bone (pelvic bone).", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:70578", "name_zh": "成人急性呼吸窘迫综合征", "Name": "Acute Respiratory Distress Syndrome", "disease_name": "Acute Respiratory Distress Syndrome", "synonyms": "acute lung injury", "disease-overview": "Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes called adult respiratory distress syndrome, it may also affect children. ARDS is a buildup of fluid in the small air sacs (alveoli) in the lungs. This makes it difficult for oxygen to get into the bloodstream. Major symptoms may include breathing difficulties (dyspnea), rapid breathing (tachypnea), excessively deep and rapid breathing (hyperventilation) and insufficient levels of oxygen in the circulating blood (hypoxemia). ARDS may develop in conjunction with widespread infection in the body (sepsis) or as a result of pneumonia, trauma, shock, severe burns, aspiration of food into the lung, multiple blood transfusions, and inhalation of toxic fumes, among other things. It usually develops within 24 to 48 hours after the original illness or injury and is considered a medical emergency. It may progress to involvement of other organs.", "symptoms": "Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli) and surrounding small blood vessels. The damaged alveoli close down or fill up with fluid (lung edema), thereby losing their ability to oxygenate the blood and eliminate carbon dioxide. Patients experience increasingly severe respiratory distress, associated with decreasing oxygen levels in arterial blood and tissues.", "causes": "Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli) and surrounding small blood vessels. The damaged alveoli close down or fill up with fluid (lung edema), thereby losing their ability to oxygenate the blood and eliminate carbon dioxide. Patients experience increasingly severe respiratory distress, associated with decreasing oxygen levels in arterial blood and tissues.", "affected": "The incidence of ARDS varies widely, due to the different definitions of the disease, as well as demographic, cultural, and healthcare system related differences across countries. Acute respiratory distress syndrome can affect persons of any age who suffer acute injury or illness affecting the lungs. The incidence increases with age, ranging from 16 affected individuals per 100,000 persons aged 15-19 to 306 affected individuals per 100,000 persons between the ages of 75 and 84. There is no difference in the incidence between male and females when ARDS is associated with sepsis and most other causes. However, the incidence is slightly higher among females when trauma is the underlying cause leading to ARDS.", "related-disorders": "Symptoms of the following disorders can be similar to those of acute respiratory distress syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Severe acute respiratory syndrome (SARS) is a respiratory illness that began to be reported in Asia, North America and Europe in the spring of 2003. It begins with a fever greater than 100.4 degrees F. Other symptoms may include headache, an overall feeling of discomfort, body aches, and mild respiratory symptoms. After two to seven days, SARS patients may develop a dry, hacking cough and have trouble breathing. SARS appears to be spread by close person-to-person contact. For additional information on SARS, contact the Centers for Disease Control and Prevention or the World Health Organization.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:974", "name_zh": "Adams-Oliver综合征", "Name": "Adams-Oliver syndrome", "disease_name": "Adams-Oliver Syndrome", "synonyms": "limb scalp and skull defects", "disease-overview": "Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes. AOS is caused by harmful changes (mutations) in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ genes. Some people with AOS do not have a mutation in one of these genes AOS has different inheritance patterns based on the gene involved. Mutations in these genes can follow either an autosomal dominant or recessive inheritance pattern. There is no cure for AOC. However, it can be managed by monitoring for and treating the symptoms. This is typically done by several different healthcare providers such as pediatricians, cardiologists, and plastic surgeons.", "symptoms": "People with AOS may have the following symptoms: absence of areas of skin (aplasia cutis congenita); shortened or missing fingers, hands, toes and/or feet; heart problems present at birth; neurological concerns such as developmental delays and learning disabilities; kidney issues and eye problems.", "causes": "AOS is known to be caused by harmful changes (mutations) in several genes: ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ. Symptoms vary based on which gene is involved. In about 50% of patients, no mutations in these genes are found.", "affected": "AOS affects males and females in equal numbers. AOS occurs in about 44 out of every 10 million people and is present at birth.", "related-disorders": "Symptoms of the following conditions can be like those of AOS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Scalp-ear-nipple syndrome is a rare condition which involves areas of hairless skin on the scalp that is present at birth; ears are small and folded over; and underdeveloped or no nipples. Other symptoms of the condition include brittle nails, dental issues, kidney concerns and specific facial features such as a flat bridge of the nose and narrowed openings of the eyes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:324588", "name_zh": "家族性运动障碍与面肌颤搐", "Name": "ADCY5-Related Dyskinesia", "disease_name": "ADCY5-Related Dyskinesia", "synonyms": "", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about ADCY5-related dyskinesia is not fully understood. Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes or additional factors influencing the disorder, prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below.", "causes": "ADCY5-related dyskinesia is caused by a variation (mutation) in the ADCY5 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation in a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "ADCY5-related dyskinesia affects males and females in equal numbers. The exact number of people who have this disorder is unknown. Rare disorders like ADCY5-dyskinesia often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. The disorder is almost certainly underrecognized and underdiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of ADCY5-related dyskinesia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ADCY5-related dyskinesia is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. There are no published guidelines for diagnosis. A diagnosis is suspected in infants, children or adolescents with characteristic movement symptoms (e.g. choreiform, myoclonic, dystonic movements) who do not have a structural abnormality of the brain. Clues which may be helpful in diagnosis include facial abnormalities and nocturnal disturbances, but not all individuals experience or have these symptoms. A diagnosis is confirmed through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:85138", "name_zh": "艾迪生病", "Name": "Addison disease", "disease_name": "Addison Disease", "synonyms": "chronic adrenocortical insufficiency", "disease-overview": "", "symptoms": "The symptoms of Addison’s disease can vary from one individual to another. Symptoms usually develop slowly over time and are usually vague and common to many conditions (nonspecific). This often leads to delays in the proper diagnosis of Addison’s disease. In rare cases, the symptoms of Addison’s disease can develop rapidly causing a condition called acute adrenal failure.", "causes": "Most cases of Addison’s disease occur due to damage or destruction of the adrenal cortex, the outermost layers of the adrenal glands (zona fasciulata, which secretes cortisol and zona glomerulosa, which secretes aldosterone). Symptoms usually do not develop until 90 percent of the adrenal cortex has been damaged.", "affected": "Addison’s disease affects males and females in equal numbers. Approximately 1 in 100,000 people in United States have Addison’s disease. The overall prevalence is estimated to be between 40 and 60 people per million of the general population. Because cases of Addison’s disease may go undiagnosed, it is difficult to determine its true frequency in the general population. Addison’s disease can potentially affect individuals of any age, but usually occurs in individuals between 30-50 years of age. Addison’s disease was first identified in the medical literature in 1855 by a physician named Thomas Addison.", "related-disorders": "Symptoms of the following disorders can be similar to those of Addison’s disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Addison’s disease is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. Often a diagnosis is made incidentally during a routine exam when a blood test shows low levels of sodium or high levels of potassium. A diagnosis may be confirmed through a variety of specialized tests including the ACTH stimulation test, insulin-induced hypoglycemia test and x-ray examination.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1501", "name_zh": "肾上腺皮质癌", "Name": "Adrenocortical carcinoma", "disease_name": "Adenoid Cystic Carcinoma", "synonyms": "ACC", "disease-overview": "Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. ACC can occur in other parts of the body, such as the breast, skin, cervix in females, prostate gland in males and various other areas. ACC tumors are characterized by a distinctive histological pattern of abnormal nests or cords of certain cells (epithelial cells) that surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. Such characteristics are apparent during microscopic evaluation of tumor cells from a biopsy sample. ACC is considered a low-grade malignancy that has a history of slow growth. ACC can be aggressively invasive and infiltrate nearby lymph nodes as well as the sheaths or coatings surrounding nerve fibers (perineural spaces). This form of cancer can recur later at the site where it first developed (local recurrence) or spread to distant body sites (metastatic disease), particularly the lungs, in approximately 50% of patients. ACC typically occurs during adulthood, around the ages of 40 to 60, but has also been diagnosed in children and adolescents.", "symptoms": "There are three histological tumor growth patterns common to ACC: cribriform, tubular and solid. The cribriform growth pattern is most common and appears as a Swiss cheese pattern in histological stains. The cribriform and tubular growth patterns are less aggressive. Tumors exhibiting a solid pattern are more likely to spread, have been associated with activating pathogenic variants (mutations) in the NOTCH1 gene and have a worse prognosis.", "causes": "The exact cause of adenoid cystic carcinoma is unknown. However, current research suggests that genetic changes (chromosomal rearrangements, pathogenic variants in genes or other DNA alterations) are the underlying basis of cellular malignant transformation in many cancers, including ACC.", "affected": "Every year, about 1,200 individuals are diagnosed with ACC in the United States. 58% of ACC patients exhibit tumors in the oral cavity, salivary glands and pharynx, 17% in the respiratory system, 12% in the breast and the remaining 13% of tumors occur in other areas of the body such as on the skin, lacrimal glands, prostate, etc. ACC makes up 10% of all tumors of the head and neck region.", "related-disorders": "Depending upon the tumor site, some benign (noncancerous) growths may appear similar to primary ACC tumor development. However, ACC typically exhibits additional symptoms that distinguish it from benign growths. Microscopic examination of tumor cells and other diagnostic testing are essential in differentiating between the two.", "diagnosis": "The diagnosis of adenoid cystic carcinoma is based upon a thorough clinical evaluation, characteristic symptoms and physical findings, a detailed patient history and a variety of specialized tests. Such testing includes microscopic evaluation of tumor cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:46", "name_zh": "腺苷酸琥珀酸裂解酶缺乏症", "Name": "Adenylosuccinate lyase deficiency", "disease_name": "Adenylosuccinate Lyase Deficiency", "synonyms": "adenylosuccinase deficiency", "disease-overview": "", "symptoms": "Three categories of adenylosuccinate lyase deficiency have been recognized. The first is the fatal neonatal form, where babies have encephalopathy with lack of spontaneous movement, respiratory failure and intractable seizures. There may be some prenatal indications such as the fetus being small in size (IUGR), having a small head (microcephaly), a low level of fetal movement (hypokinesia) and a loss of fetal heart rate variability.", "causes": "Adenylosuccinate lyase deficiency (ASLD) is a type of metabolic disorder. Metabolism is the process in which organisms take in various organic materials, use them to build cellular structures and for energy, and expel any waste products. Adenylosuccinate lyase is important in the production of purines (guanine and adenine), which are molecules that are important for the structure of genetic information and in providing sources of energy. ASLD is caused when the enzyme adenylosuccinate lyase is less functional than normal.", "affected": "All forms of adenylosuccinate lyase deficiency affect males and females in equal numbers. The age of onset and frequency is different between the different types. People with the fatal neonatal form and type I begin showing symptoms within the first few months of life. In type II, people begin showing symptoms within the first few years of life. Of known cases of ASLD, 5-10% of cases are the neonatal form, 70-80% are type I, and 15-20% are type II (Donti, 2016).", "related-disorders": "", "diagnosis": "A diagnosis of adenylosuccinate lyase deficiency should be considered in infants with seizures, delayed milestones, muscle weakness and/or autistic features. The diagnosis is based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal fluid (the fluid that surrounds the spinal nerves). These two compounds are called succinylaminoimidazole carboxamide riboside (SAICA riboside) and succinyladenosine, and they are not usually detectable in these fluids. Sequencing of the ADSL gene can identify the disease-causing genetic change (pathogenic variant).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:454718", "name_zh": "福尔摩斯·阿迪综合症", "Name": "Holmes-Adie syndrome", "disease_name": "Adie Syndrome", "synonyms": "Adie's Pupil", "disease-overview": "Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is larger than normal (dilated) and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder. In most individuals, the cause is unknown (idiopathic), but Adie syndrome can occur as due to other conditions such as trauma, surgery, lack of blood flow (ischemia) or infection. In rare cases localized disturbance of sweat secretion is associated with Adie syndrome (Ross syndrome). Adie syndrome involves a usually non progressive and limited damage to the autonomic nervous system, which is the portion of the nervous system that controls or regulates certain involuntary body functions including the reaction of the pupils to stimuli.", "symptoms": "Normally the pupil gets smaller (constricts) in the presence of light or when focusing on nearby objects. The pupil normally opens wider (dilates) in dim light or darkness, when focusing on far away objects, or when a person is excited.", "causes": "In most instances, the exact cause of Adie syndrome is unknown (idiopathic). It is believed that most cases result from inflammation or damage to the ciliary ganglion, a cluster of nerve cells found in the eye socket (orbit) just behind the eyes, or damage to the post-ganglionic nerves. The ciliary ganglion is part of the parasympathetic nervous system, which is itself part of the autonomic nervous system. The parasympathetic nervous system relaxes the body and inhibits or slows down high energy functions.", "affected": "Adie syndrome affects females more often than males by a ratio by some estimates of 2.6:1 for cases where the cause is unknown. Young adults usually between the ages of 25 to 45 are most commonly affected. The prevalence of Adie’s pupil (not the full syndrome) is approximately 2 people per 1,000 in the general population. The exact incidence or prevalence of Adie syndrome itself is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of Adie syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ross syndrome is a variant of Adie syndrome in which affected individuals experience an impaired ability to sweat normally (anhidrosis) in association with Adie pupil and loss of deep tendon reflexes. The inability to sweat properly may result in the body attempting to compensate, resulting in certain areas of the body sweating excessively. Affected individuals may experience heat intolerance due to the sweating abnormalities. More than 40 cases of Ross syndrome have been reported in the medical literature. The exact underlying cause of this disorder is unknown.", "therapies": "In most instances, treatment will not be necessary. Glasses may be prescribed to correct blurred vision; sunglasses can help individuals with sensitivity to light. Therapy using dilute pilocarpine may improve poor depth perception and relieve glare in some patients. The loss of deep tendon reflexes is permanent."}
{"OrphaCode": "ORPHA:404448", "name_zh": "ADNP综合征", "Name": "ADNP syndrome", "disease_name": "ADNP Syndrome", "synonyms": "ADNP-related intellectual disability, autism-related spectrum disorder", "disease-overview": "", "symptoms": "Although researchers have established a clear syndromic presentation with characteristic or core symptoms associated with pathogenic variants in the ADNP gene, much about the disorder is not fully understood. Several factors have impeded the identification of a complete picture of the associated symptoms and prognosis; these include the small number of identified children, the lack of large clinical studies, and a lack of understanding of moderating effects of genetic background, the presence of additional gene variants, or environmental contributions. Therefore, it is important to note that every child is unique and that affected individuals may not have all of the symptoms discussed below.", "causes": "ADNP syndrome is caused by a change (mutation) in the activity-dependent neuroprotective protein (ADNP) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "ADNP syndrome affects females and males in equal numbers. The exact number of people who have this disorder is unknown. According to one estimate, about 1 in 20,000 people in the general population in the United States and Europe have the disorder. Rare disorders like ADNP syndrome often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. ADNP syndrome is believed to account for about .17% of individuals with autism, making it one of the most common, single-gene causes of an autism spectrum disorder. Approximately 205 affected children have been identified worldwide in the medical literature and as reported by the ADNP Kids Research Foundation as of January 2019.", "related-disorders": "Symptoms of the following disorders can be similar to those of ADNP syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ADNP syndrome may be suspected based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Premature tooth eruption and abnormal tooth development when occurring along with developmental delays or intellectual disabilities and autism symptoms can also lead to a suspicion of ADNP syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79262", "name_zh": "成人神经元蜡样质脂褐质沉积症", "Name": "Adult Neuronal Ceroid Lipofuscinosis", "disease_name": "Adult Neuronal Ceroid Lipofuscinosis", "synonyms": "adult NCL", "disease-overview": "", "symptoms": "ANCL or Kufs disease was generally broken down into type A and type B. The signs and symptoms of these two subtypes often overlap and the distinction between the two is not always clear. Symptoms typically become worse over time. Generally, type A is associated with progressive myoclonic epilepsy (PME). PME is a condition characterized by both muscle contractions (myoclonus) and seizures (epilepsy). Some individuals experience difficulties in coordinating voluntary movements (ataxia) or difficulty speaking (dysarthria).", "causes": "Changes (mutations) in several different genes can cause adult neuronal ceroid lipofuscinosis. These include the CLN6 gene for type A and the CTSF gene for type B. There are also people with adult onset of neuronal ceroid lipofuscinosis due to changes in the PPT1 gene, the CLN5 gene, CTSD gene, and the GRN gene. Adult onset disease that affects vision or the heart has been found to be caused by changes in the CLN3 gene, and the MFSD8 gene. Some very specific changes in the DNAJC5 gene can also cause adult onset neuronal ceroid lipofuscinoses.", "affected": "Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population. Prevalence is the total numbers of individuals with a disease at a given time. Studies into the incidence of ANCL have varied based on the country conducting the study. Estimates range from 1.5-7 infants per 100,000 live births. Incidence is the number of new people born with a disorder in a given year.", "related-disorders": "Symptoms of the following disorders can be similar to those of adult neuronal ceroid lipofuscinosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of adult neuronal ceroid lipofuscinosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The tests used may be different based on the specific subtype of ANCL. These tests can include enzyme assays, the study of affected tissue under an electron microscope, and molecular genetic testing to identify changes in genes that can cause disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:206583", "name_zh": "成人葡聚糖多聚体神经病变", "Name": "Adult polyglucosan body disease", "disease_name": "Adult Polyglucosan Body Disease", "synonyms": "APBD", "disease-overview": "", "symptoms": "Symptoms and severity can vary greatly from one person to another. Typically, symptoms develop around the fifth decade of life. The initial sign is many times related to neurogenic bladder: specifically, an increased need to urinate that may eventually progress to cause a near complete loss of bladder control (urinary incontinence). In some cases, urinary difficulties may precede other symptoms by one or two decades.", "causes": "APBD is caused by a mutation in the GBE1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular domain, this can affect many organ systems of the body, including the brain.", "affected": "Adult polyglucosan body disease is a rare disorder that appears to affect males and females in equal proportions. Familial clustering is observed in about 30% of cases especially among Ashkenazi Jewish populations. More than 50 cases have been reported in the medical literature.", "related-disorders": "A wide variety of disorders can be mistaken for APBD. Such disorders include multiple sclerosis, hereditary spastic paraplegia, adrenomyeloneuropathy, amyotrophic lateral sclerosis, metachromatic leukodystrophy, and Pelizaeus-Merzbacher disease. Men with primarily urinary symptoms may be mistaken for having an enlarged prostate (prostate hypertrophy).", "diagnosis": "A diagnosis is made based upon a thorough clinical evaluation, identification of characteristic findings, a detailed patient history, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:313808", "name_zh": "遗传性弥漫性白质脑病伴轴索球样变与神经胶质色素沉着", "Name": "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "disease_name": "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia", "synonyms": "hereditary diffuse leukoencephalopathy with spheroids (HDLS)", "disease-overview": "", "symptoms": "Early symptoms of ALSP often include mild psychological or cognitive changes, but, while rare, can present as disturbances in motor function, such as difficulty walking, falling, and slowness of movements. Eventually, as damage in the brain becomes more extensive, psychological, cognitive and motor symptoms exist together. Initial symptoms and rate of disease progression vary quite a bit from one individual to the next, including those within the same family when the condition is inherited.", "causes": "ALSP is caused by an abnormal CSF1R gene variant that codes for the protein colony-stimulating factor-1 receptor found on many cell membranes, including those in the central nervous system, or CNS (consisting of the brain and spinal cord). This receptor plays a role in cell growth and cell specialization where cells take on specific functions in the body. Without a normally-functioning CSF-1 receptor, structural changes to the nerve cell, or neuron, eventually occur. Axons, the portions of neurons that transmit signals to the next neuron, are covered in a myelin sheath, or the white matter that is destroyed in ALSP and other leukodystrophies. In ALSP, the formation of swellings known as spheroids within axons causes immune cells known as macrophages to destroy myelin sheathing, further damaging nerve cell function. Microglia, another type of macrophage immune cell of the CNS that’s responsible for maintaining brain tissue, are highly dependent on the CSF-1 receptor. When the receptor is inhibited, microglia become underactive and are destroyed. Macrophages and microglia take on a pigmented appearance in brain biopsies of ALSP patients.", "affected": "The estimated number of people thought to have ALSP in the United States is 10,000 with similar estimates in Europe and Japan. Average age of diagnosis is 43 years old, but symptoms have been reported to occur in patients as young as 18, and 95% of ALSP patients start having symptoms before age 60. Both men and women are equally affected but symptoms usually appear earlier in women, at age 40 versus 47 for men. Life expectancy ranges from 2 to over 30 years, with an average life expectancy of 8 years after symptom onset.", "related-disorders": "Many symptoms of ALSP overlap with other neurological disorders, including other types of leukodystrophies. Genetic testing is required for accurate diagnosis. Based on symptoms, ALSP is most similar to the following disorders:", "diagnosis": "Diagnosis of ALSP is made by a neurologist. ALSP is diagnosed through genetic testing that identifies a CSF1R gene variant associated with the disease. However, family history, clinical signs and brain imaging results are integral in raising suspicions enough to order genetic testing. When symptoms affecting cognition and movements or when seizures combined with either cognitive or motor symptoms are present before or by age 60, suspicion for ALSP should be raised. Cognitive testing by psychiatrists, neurologists or psychologists can identify behaviors that confirm frontal lobe dysfunction (e.g., reduced inhibition), especially when subtle, that is associated with ALSP.", "therapies": "There are currently no FDA-approved treatments for ALSP. Researchers are further investigating underlying disease mechanisms and symptom progression to develop more effective treatment options. Current treatment options do not reverse brain damage but instead are meant to manage symptoms. For patients with ALSP who have seizures, anti-epileptic medications are useful for controlling seizures. Antibiotics may be prescribed to help control infections, such as pneumonia or urinary tract infections that may arise as patients grow progressively weaker. Muscle relaxers may be recommended to target spasticity. Anti-depressants are often prescribed to treat psychological symptoms of ALSP but are not especially effective. Anti-psychotic medications may be used to control aggression in ALSP but side effects are generally not well-tolerated. Nutritional supplements and physical therapy are often recommended to slow overall decline and maintain the most optimal overall health possible."}
{"OrphaCode": "ORPHA:829", "name_zh": "成人Still病", "Name": "Adult-onset Still disease", "disease_name": "Adult-Onset Still Disease", "synonyms": "adult Still's disease", "disease-overview": "", "symptoms": "The symptoms, progression, and severity of AOSD are highly variable from one person to another, but three main patterns have been identified:", "causes": "The cause of AOSD is unknown (idiopathic). Researchers believe that the disorder might be caused by a combination of genetic factors and an abnormal or exaggerated response to infections or other environmental exposures. AOSD is not a hereditary disease and usually does not run in families.", "affected": "The exact incidence of AOSD is unknown, but it is thought to affect between 1 and 34 people per million, depending on the population studied. Because of the highly variable symptoms and rarity of the disorder, it often goes undiagnosed or misdiagnosed, making it difficult to determine its true frequency in the general population. AOSD seems to affect men and women in equal numbers, although some reports state that the disorder affects women slightly more often than men. It primarily affects young adults between the ages of 16-35 but can also occur in older individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of AOSD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of AOSD is difficult to make because there is no specific test or distinguishing laboratory finding that clearly differentiates the disorder from similar disorders. A diagnosis of AOSD is usually made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and the exclusion of other possible disorders (diagnosis of exclusion). A variety of tests may be performed to aid in a diagnosis including blood tests as well as imaging studies that might reveal changes in the bones or joints or enlargement of the spleen or liver. An echocardiogram, which uses sound waves to create a picture of the heart, may reveal inflammation of the pericardium or myocardium.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1071", "name_zh": "睑缘粘连-外胚层发育不良-唇/腭裂综合征", "Name": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", "disease_name": "AEC Syndrome", "synonyms": "ankyloblepharon-ectodermal defects-cleft lip/palate", "disease-overview": "", "symptoms": "The symptoms of AEC syndrome are highly variable, even among members of the same family. In addition, the small number of identified patients, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder prevent physicians from developing a completely accurate picture of associated symptoms and prognosis. Affected individuals or their parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "AEC syndrome is caused by a variant in the TP63 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the protein, this can affect many tissues and organs of the body.", "affected": "AEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. AEC syndrome is a rare disorder and fewer than 100 affected individuals have been described in the medical literature.", "related-disorders": "Several disorders in addition to AEC syndrome are caused by variants in different parts of the TP63 gene.", "diagnosis": "A diagnosis of AEC syndrome is based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. A variety of specialized tests can aid in a diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:139507", "name_zh": "非洲铁过载症", "Name": "African Iron Overload", "disease_name": "African Iron Overload", "synonyms": "African siderosis", "disease-overview": "", "symptoms": "The symptoms of African iron overload can vary from one person to another. The disorder usually develops in middle-aged or older adults. Affected individuals often develop abnormal enlargement of the liver (hepatomegaly). In more serious cases, the accumulation of fibrous tissue (fibrosis) in the main vein that supplies blood to the liver (portal vein) may result in high blood pressure in the this vein (portal hypertension). Abnormal fluid retention in the abdominal cavity can cause swelling (ascites). In some cases, scarring of the liver (cirrhosis) and, potentially, liver failure may eventually occur.", "causes": "African iron overload was originally believed to be caused in individuals who had a diet high in iron, especially individuals in rural African communities that drank a homemade beer with high amounts of iron. However, many individuals in these regions who did not drink excessive amounts of this iron-rich beer also developed African iron overload. Researchers now believe that African iron overload is caused by mutations of an as yet unidentified gene or genes and can be worsened by a diet high in iron.", "affected": "African iron overload affects males and females in equal numbers. The exact incidence of the disorder is unknown. It has been reported in numerous countries in sub-Saharan Africa. Researchers believe that the disorder often goes unrecognized and is underdiagnosed, making it difficult to determine its true frequency in the general population. Some estimates suggest that iron overload affects more than 10 percent of the population in sub-Saharan Africa.", "related-disorders": "Symptoms of the following disorders can be similar to those of African iron overload. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of African iron overload is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as blood tests, which can reveal elevated levels of ferritin in the blood plasma. Ferritin is a protein that binds to iron and is used as an indicator of the body’s iron stores. Another test measures transferrin saturation. Transferrin is a protein involved in the transport of iron from the intestine into the bloodstream.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:183669", "name_zh": "丙种球蛋白缺乏血症", "Name": "Agammaglobulinemia", "disease_name": "Agammaglobulinemia", "synonyms": "hypogammaglobulinemia", "disease-overview": "Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG) etc) that are critical and key components of the immune system. They are essential if the immune system is to do its job of fighting off bacteria, viruses, and other foreign substances that threaten the body. The specialized precursor cells that produce gammaglobulins, fail to develop or function properly leading to the deficiency in the number of mature lymphocyte cells called B cells.", "symptoms": "The major symptoms of agammaglobulinemia are serial bacterial infections resulting from failures in specific immune responses because of defects in B-lymphocytes. These lymphocytes govern the production of antibodies. Males with X-linked primary agammaglobulinemia usually begin to show signs of such infections only late in the first year of life, after the IgG antibodies from the mother have been depleted.", "causes": "X-linked agammaglobulinemia (B-lymphocyte defect) is inherited as an X-linked recessive genetic trait.  The abnormal gene, named BTK, has been mapped to gene locus Xq21.3-q22. A different mutation in the BTK gene causes X-linked agammaglobulinemia with growth hormone deficiency.  The genetic cause of ARAG is much more complex involving  other genes that have been mapped to loci on different chromosomes: 22q11.21, 14q32.33, and 9q34.13. The genes at three sites are known as IGLL1, IGHM, and LCRR8 respectively.", "affected": "Primary Agammaglobulinemia is a rare disorder that occurs almost exclusively in males although some females have been affected by certain types of this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary agammaglobulinemias. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Common Variable Immunodeficiency (CVID) is rare immunodeficiency disorder characterized by recurrent infections in the lungs, sinuses or ears.  The range and severity of symptoms and findings associated with CVI may vary from case to case.   In some cases, individuals with CVID have an increased tendency to develop infections of the gastrointestinal system and may have a higher risk for some types of cancer such as non-Hodgkin lymphoma and stomach cancer.  In addition, some individuals with CVID have an autoimmune disorder such as immune thrombocytopenia purpura that causes abnormal bruising and bleeding.  The symptoms of CVI usually become apparent during the second to the fourth decade of life.   CVID is thought to be caused by mutations in genes involved in the production of B cells that produce antibodies against infectious agents.  CVID is likely to be caused by a combination of genetic and environmental factors in most cases, but autosomal recessive and autosomal dominant inheritance has been described in some families.  (For more information on this disorder, choose CVID as your search term in the Rare Disease Database.)", "therapies": "The administration of intravenous gammaglobulin replacement therapy is a standard treatment for agammaglobulinemia. Intravenous gammaglobulin or subcutaneou. is used to treat agammaglobulinemias and common variable immunodeficiency."}
{"OrphaCode": "ORPHA:1501", "name_zh": "肾上腺皮质癌", "Name": "Adrenocortical carcinoma", "disease_name": "Agenesis of Corpus Callosum", "synonyms": "ACC", "disease-overview": "Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. The cause of agenesis of corpus callosum is usually not known, but it can be inherited as either an autosomal recessive trait or an X-linked dominant trait. It can also be caused by an infection or injury during the twelfth to the twenty-second week of pregnancy (intrauterine) leading to developmental disturbance of the fetal brain. Intrauterine exposure to alcohol (Fetal alcohol syndrome) can also result in ACC. In some cases mental retardation may result, but intelligence may be only mildly impaired and subtle psychosocial symptoms may be present.", "symptoms": "Agenesis of corpus callosum (ACC) may initially become evident through the onset of epileptic seizures during the first weeks of life or within the first two years. However, not all individuals with ACC have seizures. (For more information on these types of seizures choose epilepsy as your search term in the Rare Disease Database).", "causes": "In most cases, the cause of ACC is unknown. However, agenesis of corpus callosum can be inherited as an autosomal recessive trait or an X-linked dominant trait. This disorder may also be due in part to an infection during pregnancy (intrauterine) leading to abnormal development of the fetal brain.", "affected": "Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It has been thought to be a very rare condition but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of diagnosis. This condition may also be identified during pregnancy through an ultrasound. Currently, the highest estimate of incidence is 7 in 1000 individuals.", "related-disorders": "Agenesis of corpus callosum can occur in conjunction with spina bifida. Spina bifida is a term meaning open (or non-fused) spine. In spina bifida, one or more of the individual bones of the spine fails to close completely, leaving a cleft or defect in the spinal canal. Part of the contents of the spine can protrude or herniate through this abnormal opening that produces a meningocele or meningomyelocele. (For more information on this disorder, choose spina bifida as your search term in the Rare Disease Database.)", "diagnosis": "Ultrasound and magnetic resonance imaging (MRI) are imaging techniques that aid in diagnosis of agenesis of corpus callosum.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:50", "name_zh": "Aicardi综合征", "Name": "Aicardi syndrome", "disease_name": "Aicardi Syndrome", "synonyms": "agenesis of corpus callosum with chorioretinitis abnormality", "disease-overview": "", "symptoms": "Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), abnormally small eyes (microphthalmia), an incomplete development of the retina and nerve in the back of the eye (colobomas) and/or abnormalities of the ribs and/or spinal vertebral bones. In addition to the agenesis of the corpus callosum, imaging of the brain (by brain MRI) usually shows cysts in the brain as well as clumps of nerve cells that are in the wrong location (heterotopias). Children of all ages with Aicardi syndrome have significant delays in motor development. Aicardi syndrome can be life-threatening during childhood due to prolonged seizures and complications from upper respiratory infections.", "causes": "Aicardi syndrome is likely caused by a new change (variant or mutation) in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi syndrome was not confirmed in a large cohort of other girls with Aicardi syndrome. Thus, these genes do not seem to be the cause of Aicardi syndrome. This condition is presumed to be lethal in males.", "affected": "Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 people reported to have Aicardi syndrome worldwide. There do not appear to be any differences based on race or ethnicity.", "related-disorders": "Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) can be confused with Aicardi syndrome. In MCLMR, the eye abnormalities are on the edges of the retinas, in contrast to Aicardi syndrome, where the lacunae are in the central part of the retina. Additionally, in MCLMR, the head size is very small (severe microcephaly) whereas in Aicardi syndrome the head size is usually normal. Additionally, individuals with MCLMR do not typically have agenesis of the corpus callosum or other developmental brain abnormalities typical of Aicardi syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:51", "name_zh": "Aicardi-GoutiÞres综合征", "Name": "Aicardi-Goutières syndrome", "disease_name": "Aicardi-Goutières Syndrome", "synonyms": "AGS", "disease-overview": "", "symptoms": "AGS is a disease that affects the white matter of the brain (leukoencephalopathy) and may result in severe intellectual and physical disability. Some infants will present variably in the first few weeks of life with irritability, fever, abnormal muscle contractions (dystonia), microcephaly, basal ganglia calcifications, white matter tract abnormalities, CSF lymphocytosis and elevated CSF interferon-alpha. However, infants and young children may also present after a period of normal development, in some cases following a period of unexplained fever or rash due to inflammation. As the disease progresses, individuals with AGS may present with chilblain skin lesions, most commonly on the fingers, toes and ears, or with other atypical rashes. Some infants with AGS may present with symptoms resembling a congenital infection which should be ruled out prior to diagnosis. These signs include hepatosplenomegaly, elevated liver enzymes and thrombocytopenia (low platelets). Such infections include toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, HIV or Zika virus infections. Multiple organ systems may become involved including the eyes (glaucoma and uveitis), endocrine (hypothyroidism, diabetes, diabetes insipidus, growth delay), cardiovascular (cardiomyopathy, pulmonary hypertension and other abnormalities), gastrointestinal (autoimmune hepatitis, inflammatory bowel disease), musculoskeletal (myopathy, neuropathy, arthropathy), renal (renal insufficiency) and hematologic (thrombocytopenia, anemia, leukopenia). Due to the significant neurologic involvement of AGS, affected individuals typically display muscular spasticity and dystonia, decreased muscular tone of their trunk (truncal hypotonia), poor head control, and seizures.", "causes": "Aicardi-Goutières syndrome is caused by changes (pathogenic variants or mutations) in several different genes including TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR1, IFIH, LSM11 and RNU7-1. These variants disrupt cellular signaling and production of immune-related molecules (interferons). AGS is characterized as an interferonopathy, meaning that it is a disease related to dysregulated or dysfunctional interferons (interferon alpha in this case).", "affected": "The prevalence of AGS is unknown. Studies suggest that AGS is one of the most common genetic disorders affecting the white matter of the brain.", "related-disorders": "Since calcification of the basal ganglia can be seen in many disorders, it is important to rule out other potential causes of the clinical features. The following are a few conditions with similar symptoms", "diagnosis": "Aicardi-Goutières syndrome can be diagnosed when there is suspicion based on clinical features in addition to characteristic neuroimaging and laboratory findings. Neuroradiographic findings best visualized by CT scan or MRI include calcifications of the basal ganglia, particularly the putamen, globus pallidus and thalamus. Other neurologic findings include often diffuse white-matter changes and cerebral atrophy. Laboratory findings include characteristic features seen in the peripheral blood and cerebral spinal fluid (CSF). In the peripheral blood, abnormalities of the blood cells and elevated liver enzymes may be noted. In the CSF, leukocytosis (elevated white blood cell count), increased interferon-alpha and increased concentration of neopterin may all be found. Finally, the diagnosis can also be established through genetic and molecular testing. These tests include serial single-gene tests, a multigene panel and comprehensive genomic testing. These tests can search for pathogenic variants in genes known to cause AGS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:100924", "name_zh": "氨基乙酰丙酸脱水酶缺乏性卟啉症", "Name": "Porphyria due to ALA dehydratase deficiency", "disease_name": "ALAD Porphyria", "synonyms": "ADP", "disease-overview": "", "symptoms": "The onset, severity and type of symptoms can vary greatly in individuals with a specific type of porphyria. This variation may depend on, in part, the amount of residual enzyme activity in each individual. Individuals with more significant enzyme deficiency may have more severe symptoms and earlier onset. Individuals with partial deficiency will have milder symptoms, and some individuals will not develop any symptoms (asymptomatic). It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their medical team about their specific case, associated symptoms and overall prognosis.", "causes": "ALAD porphyria is caused by mutations in the ALAD gene, and the disease is inherited as an autosomal recessive disorder. This means that both copies of the ALAD gene have a mutation. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "ALAD porphyria is an extremely rare disorder with few cases reported in the medical literature. Most cases have occurred in Europe. However, the disorder can potentially occur in any population. More males have been identified with ALAD porphyria than females in the medical literature, but the disorder affects probably males and females in equal numbers. Researchers suspect that some cases of ALAD porphyria go undiagnosed or misdiagnosed, making it difficult to estimate the true frequency of this disorder in the general population. The onset of ALAD porphyria is usually during infancy or childhood, but late-onset of the disorder (well into adult life) has also been reported.", "related-disorders": "Symptoms of the following disorders can be similar to those of ALAD porphyria. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ALAD porphyria is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation and of specialized tests that can detect delta-aminolevulinic acid in the urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:52", "name_zh": "Alagille综合征", "Name": "Alagille syndrome", "disease_name": "Alagille Syndrome", "synonyms": "Alagille-Watson syndrome", "disease-overview": "Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms, organ system involvement and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while others may have more serious forms. Common symptoms, which often develop during the first three months of life, include blockage of the flow of bile from the liver (cholestasis), yellowing of the skin and mucous membranes (jaundice), poor weight gain and growth and severe itching (pruritis). Additional symptoms include heart murmurs, congenital heart defects, vertebral (back bone) differences, thickening of the ring that normally lines the cornea in the eye (posterior embryotoxon) and distinctive facial features. Most people with Alagille syndrome have changes (variants or mutations) in one copy of the JAG1 gene. A small percentage (2%) of patients have variants in the NOTCH2 gene. These variants can be inherited in an autosomal dominant pattern, but in about half of cases, the variant occurs as a new change (de novo) in the individual and was not inherited from a parent. The current estimated incidence of ALGS is approximately 1/30,000 –1/45,000.", "symptoms": "The symptoms and severity of Alagille syndrome can vary greatly from one person to another, even among members of the same family. Some individuals may have a mild form of the disorder that can virtually go unnoticed; other individuals may have a serious form of the disorder that can potentially cause life-threatening complications. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Alagille syndrome is caused by variants in one of two genes – the JAG1 gene or the NOTCH2 gene. Variants in the JAG1 gene have been identified in approximately 94% of patients. Variants in the NOTCH2 gene have been found in 2-4% of patients. These gene variants are inherited in an autosomal dominant pattern. In some people, the variant occurs randomly due to a spontaneous genetic change (de novo).", "affected": "Alagille syndrome affects males and females in equal numbers. The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population. Some cases of Alagille syndrome may go undiagnosed or misdiagnosed making it difficult to determine the true frequency of Alagille syndrome in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Alagille syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Alagille syndrome is made based upon identification of characteristic symptoms and genetic testing, along with a detailed patient history, a thorough clinical evaluation and other specialized tests. Because the symptoms of Alagille syndrome are highly variable, obtaining a diagnosis can be difficult. Surgical removal and microscopic study of liver tissue (liver biopsy) can reveal bile duct paucity. Although bile duct paucity is considered a key characteristic of Alagille syndrome, this finding is not always present in infants with the disorder.", "therapies": "The treatment of Alagille syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, gastroenterologists, cardiologists, ophthalmologists and other healthcare professionals may need to plan an affect child’s treatment systematically and comprehensively. Individuals with Alagille syndrome should have a baseline echocardiogram (ultrasound of the heart) to screen for heart involvement, ultrasound of the abdomen to screen for liver and kidney anomalies, a chest X-ray to screen for skeletal involvement, and a screening eye (ophthalmology) exam. In addition, if not previously obtained for specific symptoms, a screening imaging study of the blood vessels of the head (MRI/MRA) is recommended for children who are old enough to sit through the study without need for anesthesia or sedation. Supplemental treatment with vitamins and nutrients is essential for individuals with malabsorption. Such treatment may include restoring vitamins A, D, E and K. Young children may be given formula with medium chain triglycerides because this form of fat is better absorbed by individuals with Alagille syndrome who have cholestasis. Some affected children may need to receive extra calories through a tube that runs from the nose to the stomach (nasogastric tube) or through a tube placed directly into the stomach through a small incision in the abdominal wall and stomach (gastrostomy tube)."}
{"OrphaCode": "ORPHA:58", "name_zh": "亚历山大病", "Name": "Alexander disease", "disease_name": "Alexander Disease", "synonyms": "dysmyelogenic leukodystrophy", "disease-overview": "", "symptoms": "Historically, three forms of Alexander disease have been described based on age of onset, Infantile, Juvenile and Adult; but an analysis of a large number of patients concluded that the disease is better described as having two forms, Type I, which generally has an onset by age 4, and Type II, which can have onset at any age, but primarily after age 4. Each type accounts for about half of the reported patients. Symptoms associated with the Type I form include a failure to grow and gain weight at the expected rate (failure to thrive); delays in the development of certain physical, mental, and behavioral skills that are typically acquired at particular stages (psychomotor impairment); and sudden episodes of uncontrolled electrical activity in the brain (seizures). Additional features typically include progressive enlargement of the head (macrocephaly); abnormally increased muscle stiffness and restriction of movement (spasticity); lack of coordination (ataxia); and vomiting and difficulty swallowing, coughing, breathing or talking (bulbar and pseudobulbar signs). Nearly 90% of infantile patients display developmental problems and seizures, and over 50% the other symptoms mentioned; however, no single symptom or combination of symptoms is always present.", "causes": "About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known.", "affected": "Alexander disease has been estimated to occur at a frequency of about 1 in 1 million births. No racial, ethnic, geographic, or sex preference has been observed, nor is any expected given the de novo (new) nature of the mutations responsible for most cases. Although initially diagnosed primarily in young children, it is now being observed with similar frequency at all ages.", "related-disorders": "Symptoms of the following disorders can be similar to those of Alexander disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hydrocephalus is a condition in which the normal flow of cerebrospinal fluid (CSF) is restricted and the spaces in the brain (ventricles) become abnormally enlarged. Fluid accumulates beneath the skull and puts pressure on the brain. Hydrocephalus is characterized in children by an abnormally enlarged head (megalencephaly). The scalp may be thin and transparent, and the forehead may bulge (frontal bossing). Other symptoms of hydrocephalus may include convulsions, abnormal reflexes, a slowed heartbeat, headache, vomiting, weakness and/or problems with vision. (For more information on this disorder, choose Hydrocephalus as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:56", "name_zh": "黑酸尿症", "Name": "Alkaptonuria", "disease_name": "Alkaptonuria", "synonyms": "AKU", "disease-overview": "Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air. However, this change may not occur for several hours after urination and often goes unnoticed. Aside from dark urine that is present from infancy, affected individuals generally do not develop symptoms (asymptomatic) during infancy or childhood and often remain unaware of their condition until adulthood. Affected individuals eventually develop ochronosis, which is the bluish-black discoloration of connective and other tissue within the body. Affected individuals may develop discoloration of the skin overlying cartilage within the body such as over part of the outer ear. In some cases, the whites of the eyes (sclera) may also become discolored. In adulthood, affected individuals also develop progressive arthritis of the spine and large joints. The HGD gene codes for the enzyme required for the breakdown of homogentisic acid. Mutations in the HGD gene cause alkaptonuria.", "symptoms": "Alkaptonuria is a genetic disorder, and urine that turns dark is present from birth. However, additional symptoms usually do not appear until adulthood. Symptoms are generally slowly progressive. The urine of individuals with alkaptonuria may be abnormally dark or it may turn black upon long-standing exposure to the air. However, since this change often takes several hours, it often goes unnoticed. During infancy, diapers may be stained black (from urine exposure to air), although this is often missed or ignored.", "causes": "Alkaptonuria is caused by mutation of the homogentisate 1,2-dioxygenase (HGD) gene. The HGD gene contains instructions for creating (encoding) an enzyme known as homogentisate 1,2-dioxygenase. This enzyme is essential for the breakdown of homogentisic acid. Mutations of the HGD gene result in deficient levels of functional homogentisate 1,2-dioxygenase, which, in turn, leads to excess levels of homogentisic acid. Although homogentisic acid is rapidly cleared from the body by the kidneys, it also slowly accumulates in the various tissues of the body, especially connective tissue such as cartilage. Over time (rarely before adulthood), it eventually changes the color of affected tissue to a slate blue or black. Long-term, chronic accumulation of homogentisic acid eventually weakens and damages affected tissue and leads to many of the characteristic symptoms of alkaptonuria.", "affected": "Alkaptonuria affects males and females in equal numbers, although symptoms tend to develop sooner and become more severe in males. More than 1,000 affected individuals have been reported in the medical literature. The exact incidence of alkaptonuria is unknown. In the United States it is estimated to occur in 1 in 250,000-1,000,000 live births. Alkaptonuria has been reported in all ethnic groups. Areas with increased frequencies of the disorder have been identified in Slovakia, the Dominican Republic and Germany.", "related-disorders": "Symptoms of the following disorders can be similar to those of alkaptonuria. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of alkaptonuria is made upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Identification of vastly elevated levels of homogentisic acid in the urine is indicative of alkaptonuria. Alkaptonuria should be suspected in individuals with dark urine. However, since some individuals with alkaptonuria do not have dark urine, it may be advisable to rule out the disorder for all individuals with osteoarthritis, especially those with an early onset of symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79364", "name_zh": "秃头", "Name": "Alopecia Areata", "disease_name": "Alopecia Areata", "synonyms": "Alopecia Celsi", "disease-overview": "Alopecia areata is a disorder characterized by loss of hair. Sometimes, this means simply a few bare patches on the scalp. In other cases, hair loss is more extensive. Although the exact cause is not known, this is thought to be an autoimmune disorder in which the immune system, the body’s own defense system, mistakenly attacks the hair follicles, the tiny structures from which hairs grow. Unpredictable hair loss is the only noticeable symptom of this disorder. Regrowth of hair may or may not occur.  Hair loss is usually confined to the head and face, although the entire body may be involved.", "symptoms": "Alopecia areata often begins suddenly with oval or round bald patches appearing most commonly on the scalp.  Other areas of hairy skin may also be involved.  Gradually, the affected skin becomes  smooth.  New patches may spread by joining existing bald patches.  These larger bald areas can appear while hair is regrowing in older hairless patches.  Loss of hair can be permanent in some cases.  Hair follicles may deteriorate, but oil producing glands in the skin (sebaceous glands) usually change very little. The skin does not become hard or atrophied.  In a very few cases, all body hair may be lost.  Cases beginning during childhood tend to be more severe than cases with an onset during adulthood.", "causes": "The exact cause of alopecia areata is not known.  An autoimmune mechanism is suspected in this disorder.  Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons.  Some cases may be linked to abnormal reactions by blood cells (serum antibodies) to a thyroid protein (thyroglobulin), stomach (parietal) cells, or adrenal cells.", "affected": "Alopecia areata affects males and females in equal numbers.  It may appear at any age, but most typically begins during childhood.  There are approximately 2.5 million individuals in the United States affected by alopecia areata.", "related-disorders": "Loss of hair (alopecia) can occur from a wide variety of causes.  Symptoms of the following disorders can be similar to those of alopecia areata. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Trichotillomania, also known as hair pulling, is a neurotic habit that usually appears in children.  It may remain undiagnosed for a long time.  The hairs may be broken off or pulled out.  Stubby regrowth may replace damaged hair or bald areas.  This mental illness may be hard to distinguish from alopecia areata without careful observation of the affected child’s habits.  Hair can be similarly damaged by permanent wave solutions, softeners or hot combs.  (For more information on this disorder, choose trichotillomania as your search term in the Rare Disease Database.)", "therapies": "Treatment of alopecia areata is directed at producing regrowth of hair. Although there is no cure for alopecia areata at the present time, the hair may sometimes return by itself. In some cases, it may also fall out again after returning. The course of this disorder varies among individuals, and is difficult to predict."}
{"OrphaCode": "ORPHA:726", "name_zh": "Alpers-Huttenlocher综合征", "Name": "Alpers Disease", "disease_name": "Alpers Disease", "synonyms": "Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis", "disease-overview": "Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).", "symptoms": "Alpers disease usually begins during early childhood, usually indicated by seizures at any age between 3 months and 5 years.  It is characterized by lack of coordination of motor movement, partial paralysis, seizures, and muscle twitching. The child is unable to achieve normal muscle tone (hypotonia), yet the limbs appear to be stiff. On MRI examination an increased density of the grey matter in the brain is noted. Usually, but not always, Alpers disease is associated with liver damage.  Mental retardation may be severe and is progressive.  The loss of intellectual functions such as thinking, remembering, and reasoning may also interfere with a person’s daily functioning (dementia).   In later stages, patients may lose control of the movement of their arms and legs (spastic quadriplegia). The liver may become cirrhotic and fail completely, or may not progress beyond signs of jaundice. Affected individuals may also become blind as a result of optic atrophy as the optic nerve degenerates.", "causes": "Many researchers believe that Alpers Syndrome, rather than being a distinct disorder, is a clinical entity (i.e., cerebral gray matter degeneration in association with liver disease) that may be due to a number of different causes.  In some cases, it is believed that the syndrome may be inherited as an autosomal recessive genetic trait.  In other cases, clinicians attribute the disorder to a prion or prion-like molecule. Some researchers believe that certain individuals may inherit a genetic predisposition for the disorder; in such cases, certain environmental factors in combination with such a genetic predisposition may ultimately result in expression of the disorder.  Research has also indicated that certain metabolic defects or mitochondrial abnormalities may play some role in causing the disorder.", "affected": "It is thought that Alpers disease affects males and females in equal numbers usually during early childhood.  However, some clinicians are convinced that the difficulty of diagnosis makes estimating the frequency of this disorder less accurate.  It is probable that Alpers disease affects fewer, than one (1) person per 200,000 of population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Alpers disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Myoclonic epilepsy is a hereditary neurologic disorder inherited through recessive genes.  It is characterized by sudden brief contractions of groups of muscles.  Onset is usually between the ages of six and sixteen.  During the initial period of seizures there is loss of consciousness.  After years of attacks of increasing frequency and severity, spasms involving the muscles of the face, trunk, arms, and legs intensify.  Untreated, this type of epilepsy can lead to progressive dementia.  (For more information on this disorder, choose Epilepsy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:847", "name_zh": "X连锁α地中海贫血-智力障碍综合征", "Name": "X-linked alpha-thalassemia-intellectual disability syndrome", "disease_name": "Alpha Thalassemia X-linked Intellectual Disability Syndrome", "synonyms": "ATR-X syndrome", "disease-overview": "", "symptoms": "The specific signs and symptoms present and their severity vary greatly from person to person. Many of the signs associated with ATR-X syndrome are apparent during infancy. Affected infants may exhibit diminished muscle tone (hypotonia), feeding difficulties and significant delays in reaching developmental milestones especially speaking or walking. Some affected individuals do not walk independently or fail to develop the ability to speak outside of a limited vocabulary. Intellectual disability is the most important of the clinical findings, but genital abnormalities, seizures and stiff movements of the legs also occur. Growth deficiency occurs after birth (postnatally) but may not become apparent until adolescence. Ultimately, growth deficiency may result in short stature.", "causes": "ATR-X syndrome is inherited as an X-linked recessive genetic condition. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains an abnormal gene, he will develop the disease.", "affected": "ATR-X syndrome affects males. More than 200 families have been reported by laboratories conducting molecular genetic testing. However, because this disorder is underdiagnosed it is difficult to determine its true frequency in the general population. Female carriers of the mutated gene do not usually develop any manifestations.", "related-disorders": "Symptoms of the following disorders can be similar to those of ATR-X syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "ATR-X syndrome may be suspected at birth or during infancy based upon a thorough clinical evaluation and identification of characteristic findings (e.g., intellectual disability, distinctive facial features, genitourinary abnormalities). Blood tests (e.g., brilliant cresyl blue stain) that demonstrate the presence of hemoglobin H inclusion bodies in red blood cells may assist in diagnosis. However, HbH is a variable finding in ATR-X syndrome and failure to detect HbH inclusion bodies does not rule out ATR-X syndrome. A diagnosis of ATR-X syndrome may be confirmed by molecular genetic testing that identifies a mutation of the ATRX gene. A specific DNA methylation profile is available to help clarify the pathogenicity of alterations of uncertain significance in the ATRX gene.", "therapies": "The treatment of ATR-X syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, dental specialists, speech pathologists, eye specialists, specialists in treating skeletal disorders (orthopedists) and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:846", "name_zh": "α-地中海贫血", "Name": "Alpha Thalassemia", "disease_name": "Alpha Thalassemia", "synonyms": "", "disease-overview": "", "symptoms": "The specific symptoms and severities of the alpha thalassemia conditions vary greatly from one person to another. Individuals with alpha thalassemia silent carrier do not develop symptoms, while individuals with alpha thalassemia minor do not develop any symptoms or are only mildly anemic. Many individuals with either form of alpha thalassemia go through life never knowing they carry an altered gene(s) for the disorder. In some cases, a diagnosis is made incidentally while they are being evaluated for another condition.", "causes": "Alpha thalassemia is caused by alterations (mutations) in two adjacent genes, the HBA1 and the HBA2 genes. Every person has two copies of the HBA1 gene (one from each parent) and two copies of the HBA2 gene (also one from each parent). Affected individuals may have a mutation or combination of mutations in one gene, two genes, three genes, or all four copies of these genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may either function normally but be reduced in quantity, or function abnormally and be produced at normal levels. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Alpha thalassemia is one of the most common autosomal recessive disorders in the world. Increased immigration of people from areas with a higher incidence of alpha thalassemia has led to an increased incidence of the alpha-globin disorders in the US and other Western nations. Although the incidence and prevalence is increasing in United States and Northern Europe, the exact incidence or prevalence remains unknown. Severe forms of alpha thalassemia (HbH disease and Hb Bart’s hydrops fetalis) have been estimated to occur in approximately 1 in 1,000,000 individuals in the general population in Northern Europe and North America. However, some studies have shown that alpha thalassemia may be under-recognized and underdiagnosed in these countries, making it difficult to determine their true frequency.", "related-disorders": "Symptoms of the following disorders can be similar to those of alpha thalassemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of alpha thalassemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Hb Bart’s hydrops fetalis can be diagnosed before birth in most cases.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:60", "name_zh": "α-1-抗胰蛋白酶缺乏症", "Name": "Alpha-1 Antitrypsin Deficiency", "disease_name": "Alpha-1 Antitrypsin Deficiency", "synonyms": "A1AD", "disease-overview": "Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis.", "symptoms": "Lung disease", "causes": "Alpha-1 antitrypsin deficiency (A1AT) is caused by disease-causing variants in the SERPINA1 gene that is responsible for producing the alpha-1 antitrypsin protein. Normally, this protein is produced in the liver and released into the bloodstream and functions to protect the body from the neutrophil elastase enzyme which is contained within the white blood cells called neutrophils. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.", "affected": "Alpha-1 antitrypsin deficiency is a disorder that occurs most frequently in Americans of Northern or Central European descent, affecting approximately 100,000 Americans. However, because most patients with A1AD go unrecognized, the disorder is very much under-diagnosed. Estimates suggest that only 10% or fewer of these estimated 100,000 Americans with severe deficiency of A1AT have been diagnosed, with the others either having chronic obstructive pulmonary disease (COPD) that has not been recognized to be caused by A1AD or being unaffected.", "related-disorders": "Symptoms of the following disorders can be similar to those of alpha-1 antitrypsin deficiency:", "diagnosis": "The diagnosis of A1AD is based on a low concentration of A1AT in the blood in combination with a high-risk phenotype (demonstrated by a test called isoelectric focusing) or by genotype analysis (i.e., detecting specific abnormal alleles [usually the Z or S alleles and sometimes for additional abnormal alleles called the F and I alleles]). In some instances, further testing to sequence the SERPINA1 gene is needed to confirm the diagnosis. Testing for at-risk family members and prenatal and preimplantation genetic testing are possible once the SERPINA1 variants have been identified in the family.", "therapies": "Treatments for emphysema associated with A1AD include standard medications used in managing patients with emphysema of all causes (such as inhaled bronchodilators, inhaled steroids, anticholinergics, oxygen therapy and the administration of antibiotics or phosphodiesterase 5 inhibitors for the frequent respiratory infections) as well as (in some cases) specific A1AT treatment called augmentation therapy (see below). Exercise programs (pulmonary rehabilitation) and good nutrition may help increase overall quality of daily living."}
{"OrphaCode": "ORPHA:61", "name_zh": "α-甘露糖苷贮积症", "Name": "Alpha-mannosidosis", "disease_name": "Alpha-Mannosidosis", "synonyms": "alpha-mannosidase B deficiency", "disease-overview": "", "symptoms": "The symptoms, progression and severity of alpha-mannosidosis vary widely from one person to another, including between siblings who share the same gene variant. Alpha-mannosidosis represents a spectrum or continuum of disease and is highly individualized. Some individuals develop symptoms shortly after birth and may develop potentially life-threatening complications in infancy or early childhood. Other individuals develop more moderate symptoms usually with onset before the age of 10. Some individuals may not be diagnosed until adulthood.", "causes": "Alpha-mannosidosis is caused by changes (variants or mutations) in the MAN2B1 gene. The MAN2B1 gene contains instructions for producing the enzyme lysosomal alpha-mannosidase (LAMAN). This enzyme is essential for breaking down (metabolizing) certain glycoproteins. Without proper levels of functional version of this enzyme, these glycoproteins abnormally accumulate in and damage various tissues and organs of the body. Variants of the MAN2B1 gene result in the lack of production of the alpha-D-mannosidase enzyme or the production of a defective, inactive form of the enzyme.", "affected": "The prevalence of alpha-mannosidosis is estimated to be 1 in every 500,000 people in the general population. Alpha-mannosidosis affects males and females in equal numbers and can potentially affect individuals of any ethnic group worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to alpha-mannosidosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders, and they may affect different parts of the body, including the skeleton, brain, skin, heart and central nervous system. New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. (For more information choose lysosomal storage disease as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:63", "name_zh": "Alport综合征", "Name": "Alport syndrome", "disease_name": "Alport Syndrome", "synonyms": "hematuria-nephropathy deafness (former)", "disease-overview": "", "symptoms": "The onset, symptoms, progression and severity of Alport syndrome can vary greatly from one person to another due, in part, to the specific subtype and gene variant present. Some individuals may have a mild, slowly progressive form of the disorder, while others have earlier onset of severe complications.", "causes": "Alport syndrome results from disease-causing variants in the DNA sequences of specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a disease-causing variant in the DNA sequence of genes of a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Alport syndrome is estimated to affect approximately 1 in 5,000-10,000 people in the general population in the United States, which means that approximately 30,000-60,000 people in the United States have the disorder.  However, recent population studies suggest that disease-causing variants in the COL4A3, COL4A4 and COL4A5 genes may be more prevalent than previously realized (Groopman et al, 2019; Gibson et al, 2021) Alport syndrome is estimated to account for 3% of children with chronic kidney disease and 0.2% of adults with end-stage renal disease in the United States. In XLAS, males are affected more severely than females. In the autosomal forms of Alport syndrome, males and females are affected with equal severity.", "related-disorders": "Symptoms of the following disorders can be similar to those of Alport syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Alport syndrome is suspected based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. The likelihood of diagnosis increases in individuals with a family history of Alport syndrome, kidney failure without known cause, early hearing loss or hematuria. A variety of specialized tests can help to confirm a suspected diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64", "name_zh": "Alstr÷m 综合征", "Name": "Alström Syndrome", "disease_name": "Alström Syndrome", "synonyms": "ALMS", "disease-overview": "", "symptoms": "Alström syndrome may potentially affect several different organ systems of the body. The specific symptoms associated with Alström syndrome, their severity and their rate of progression vary greatly from one person to another, even among members of the same family. It is important to note that affected individuals will not have all of the symptoms discussed below and individual cases may be dramatically different. Some symptoms may present in the first weeks of life, others symptoms may not develop until adolescence or early adulthood.", "causes": "Alström syndrome is caused by mutations in the ALMS1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Alström syndrome affects males and females in equal numbers. The exact incidence is unknown. Estimates have ranged from 1 in 10,000 to less than 1 in 1,000,000 individuals in the general population. Approximately 1200 affected individuals have been identified worldwide. Because some cases of Alström syndrome may go unrecognized or misdiagnosed, the disorder may be under-diagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Alström syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Alström syndrome is made upon a thorough clinical evaluation, identification of characteristic findings (e.g., cone-rod dystrophy, sensorineural hearing impairment, cardiomyopathy, obesity, kidney dysfunction, diabetes), and a variety of specialized tests. A diagnosis of Alström syndrome may be difficult because of delayed onset of certain key characteristics including diabetes, cardiomyopathy, and kidney disease. The absence of certain findings (e.g., polydactyly, intellectual disability) distinguishes Alström syndrome from similar syndromes such as Bardet-Biedl syndrome or Laurence-Moon syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2131", "name_zh": "儿童交替性偏瘫", "Name": "Alternating hemiplegia of childhood", "disease_name": "Alternating Hemiplegia of Childhood", "synonyms": "AHC", "disease-overview": "Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may affect one side of the body or the other (hemiplegia) or both sides of the body at once (quadriplegia). Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. Delays in attaining developmental milestones (developmental delays), cognitive impairment, and persistent issues with balance and the presence of continuous dance-like movements of limbs or facial muscles (chorea) may occur independently of episodes of paralysis, weakness or stiffness and persist between episodes. The severity of AHC and the specific types of episodes that occur can vary dramatically from one individual to another. First symptoms usually begin before the age of 18 months. AHC is caused by mutations in the ATP1A3 gene in the majority of those affected. AHC is a rare disorder that was first reported in the medical literature in 1971 by doctors Simon Verret and John C. Steele. They described an unusual disorder in eight children who demonstrated intermittent episodes of weakness, affecting first one side of the body, then the other, with onset in early childhood, including one child who manifested symptoms as early as 3 months of age. However, the disorder remained poorly understood for many years, in part, because of its rarity and complex and highly variable symptoms. More research is necessary to improve early diagnosis, understand the full range of symptoms, and develop more effective treatments. The identification of a causative gene for AHC should lead to a better understanding of the disorder and open new avenues for treatment. The spectrum of related disorders with overlapping symptoms continues to expand, and has led to the increasingly common use of the term ATP1A3-related neurologic disorders. This umbrella includes patients with rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. However, an increasing number of patients with overlapping symptoms that further expand the phenotypes even beyond these well-described disorders, initially thought to be completely distinct, continues to expand.", "symptoms": "AHC is a highly variable and unpredictable disorder and the specific symptoms and severity of the disorder can vary greatly from one person to another. Some individuals may have mild forms of the disorder with a good prognosis, and develop almost normally. However, others may have a severe form with the potential for serious and disabling complications that can disrupt various aspects of life and manifest as persistent neurologic disability.", "causes": "In at least 2/3 of individuals, AHC is caused by a mutation in the ATP1A3 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "AHC affects males and females in equal numbers. It is estimated to occur in approximately 1 in 1,000,000 births. However, since cases may go unrecognized or misdiagnosed, it is difficult to determine the true frequency of AHC in the general population. Symptoms usually become apparent within the first 18 months.", "related-disorders": "Symptoms of the following disorders can be similar to those of AHC. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AHC is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Specific diagnostic criteria have been proposed for AHC. The seven criteria are: (1) onset of symptoms before 18 months; (2) repeated episodes of hemiplegia that sometimes involve both sides of the body; (3) quadriplegia that occurs as an isolated incident or as part of a hemiplegic attack; (4) relief from symptoms upon sleeping; (5) additional paroxysmal attacks such as dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction; (6) evidence of developmental delay or neurological abnormalities such as choreoathetosis, ataxia or cognitive disability; (7) cannot be attributed to another cause.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:210122", "name_zh": "先天性肺泡毛细血管发育不良", "Name": "Congenital alveolar capillary dysplasia", "disease_name": "Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins", "synonyms": "ACDMPV", "disease-overview": "", "symptoms": "Within the first few days after birth, infants with ACDMPV develop severe breathing problems and lack of oxygen in the blood (hypoxemia). They experience shortness of breath and cyanosis, a condition marked by abnormal bluish discoloration of the skin that occurs because of low levels of oxygen in the blood. High blood pressure in the arterial blood vessels of the lungs (pulmonary hypertension) also occurs. Breathing issues become progressively worse and most infants experience respiratory failure. Very rarely, infants may not show signs of the disorder until weeks or even months after birth, usually when pulmonary hypertension of variable severity is noted.", "causes": "In most affected children, ACDMPV is caused by a point mutation in the FOXF1 gene, or by a loss of genetic material on chromosome 16q24.1 that includes the FOXF1 gene or non-coding elements (promoter and lung-specific enhancer) that regulate the expression of FOXF1. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty or inefficient. Depending upon the functions of the protein, this can affect many organ systems of the body. For a minority of infants (~10-20%) with ACDMPV, the molecular cause remains unknown. In most instances, the disorder is sporadic, which means that the genetic changes occur at the time of fertilization and are not inherited from the parents. However, there are very rare instances where ACDMPV has been reported to run in families and can be inherited.", "affected": "ACDMPV is a very rare disorder. The incidence and prevalence are unknown. More than 200 people with this disorder have been reported in the medical literature. However, many infants may go misdiagnosed or undiagnosed, so determining the true frequency of ACDMPV in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of ACDMPV. Comparisons may be useful for a differential diagnosis.", "diagnosis": "ACDMPV may be suspected in any infant who presents with severe cyanosis (hypoxemia) and high pulmonary blood pressure (pulmonary hypertension) that is unresponsive to treatment in the neonatal intensive care unit (NICU). The diagnosis is confirmed through a histopathological examination of lung tissue at biopsy or autopsy by an experienced pathologist for characteristic tissue changes. The characteristics that a pathologist will look for can include a relative lack of capillaries near the alveoli, thickening of the walls (septa) of alveoli, misalignment of pulmonary veins and increased muscularization of the small arteries of the lungs (arterioles).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163699", "name_zh": "肺泡状软组织肉瘤", "Name": "Alveolar Soft Part Sarcoma", "disease_name": "Alveolar Soft Part Sarcoma", "synonyms": "Alveolar sarcoma of soft parts", "disease-overview": "Alveolar soft part sarcoma (ASPS) is a rare, slow growing soft tissue tumor of an unclear cause. It is among the least common sarcomas, representing 0.2-1 percent of large studies of soft tissue sarcomas. ASPS is characterized by a painless mass that most commonly arises in the leg or buttock, with a particular affinity to travel to the lungs as multiple nodules, presumably while the sarcoma itself is still small. This disorder is very rare because it involves a specific breaking and joining event between two chromosomes, called an unbalanced translocation. This finding is observed in essentially all people with ASPS examined so far. This finding cannot be passed on to children, however, as the finding occurs only in the tumor cells, not in the body cells. In addition, there are no families in which multiple family members have the disorder. ASPS tends to occur more often in younger individuals, specifically adolescents and young adults.", "symptoms": "The typical clinical findings are of a painless thigh or buttock mass, although ASPS can occur in the trunk, arm or elsewhere. Sometimes these masses cause pain by stretching of the surrounding tissues, and cause limping or other difficulty with movement. These masses are usually soft and slow growing. In children, these masses most often occur in the head and neck, most commonly the tongue and the eye socket (orbit). In adults, the thighs and buttocks are most often affected.", "causes": "There is no exposure or infection that is known to predispose to ASPS. It is known that two chromosomes break and rejoin is a certain way (unbalanced translocation) and bring together two genes, normally separated on chromosomes X (the sex chromosome) and 17.", "affected": "ASPS tends to affect younger people, especially those between 15 and 35 years of age. It is rare in children under 5 or in adults over 50. Women outnumber men, especially under age 25. There appears to be no link of this tumor to a particular ethnicity. ASPS accounts for about 0.2-1% of all soft tissue sarcomas. In turn, soft tissue sarcomas account for approximately 1% of all cancers.", "related-disorders": "The exact same chromosomal changes are found in a rare form of kidney cancer, ASPSCR1-TFE3 translocation renal cell carcinoma in which the chromosomal translocation is balanced as opposed to the unbalanced translocation seen in ASPS. This is a cancer of an entirely different nature. Researchers are unsure why the ASPSCR1-TFE3 gene fusion causes ASPS in some people and a form of renal cell carcinoma in others.", "diagnosis": "Biopsy is the fastest way to come to a diagnosis of soft-tissue sarcomas. A biopsy involves taking a small sample of affected tissue and examining it under a microscope. There are more than 50 different types of sarcomas, of which ASPS is only one rare subtype. Often times, a core needle biopsy of the leg mass is enough to make the diagnosis. If a core needle biopsy is not diagnostic, then an incisional biopsy that obtains more tissue will make the diagnosis.", "therapies": "The therapeutic management of individuals with ASPS may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis (pathologists)and treatment of cancer (medical oncologists), specialists in the use of radiation to treat cancer (radiation oncologists), surgeons, oncology nurses, and other specialists (depending upon the area(s) of tumor involvement). Given the rarity of this disease, it is recommended that patients be treated at a high-volume referral center for sarcomas."}
{"OrphaCode": "ORPHA:314422", "name_zh": "成釉细胞癌", "Name": "Ameloblastic Carcinoma", "disease_name": "Ameloblastic Carcinoma", "synonyms": "No synonyms found", "disease-overview": "Ameloblastic carcinoma is a rare malignant (cancerous) tumor that normally begins in the bones of the jaw. It is classified as an odontogenic tumor, meaning that it arises from the epithelium that forms the enamel of the teeth. The pattern of epithelial growth is similar to the developing tooth germ and distinctive enough to separate it from other epithelial malignances. Symptoms may include progressive pain and swelling of the jaw. Ameloblastic carcinoma may spread (metastasize) to affect other organs of the body.", "symptoms": "Some individuals with ameloblastic carcinoma may not experience any symptoms (asymptomatic). Symptoms that may occur include progressive pain and swelling of the jaw. Bleeding and headaches may also occur. Rare findings include the inability to open the mouth (trismus) or dysphonia, a voice disorder characterized by hoarseness, weakness, tingling or numbness (paresthesia), and, in rare cases, voice loss (my note: disruption of the voice because of laryngeal involvement (vocal cords) would be quite unusual but dysphagia, trouble eating, can be a problem if the tumor is large enough to cause obstruction or malocclusion). Nasal discharge and blockage of the nasal passages may occur if the tumor involves the sinuses of the maxilla. The size of the tumor may result in dental abnormalities such as causing the upper and lower teeth to fail to meet properly (malocclusion).", "causes": "The exact cause of ameloblastic carcinoma is unknown. Most cases arise spontaneously without a previous history of cancer (de novo). Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation), diet, stress, and/or other factors may play contributing roles in causing specific types of cancer. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "Ameloblastic carcinoma affects males and females in equal numbers. They may affect individuals of any age including children, but the mean age of affected individuals is approximately 30 years old.", "related-disorders": "Symptoms of the following disorders can be similar to those of ameloblastic carcinoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ameloblastic carcinoma is made based upon a thorough clinical evaluation, a detailed patient history, and microscopic examination of the tumor. Most cases are found incidentally. One procedure is known as fine needle aspiration, in which a thin, hollow needle is passed though the skin and inserted into the nodule or mass to withdraw small samples of tissue for study.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:314419", "name_zh": "成釉细胞瘤", "Name": "Ameloblastoma", "disease_name": "Ameloblastoma", "synonyms": "Adamantinoma", "disease-overview": "Ameloblastoma is a rare disorder of the jaw involving abnormal tissue growth. The resulting tumors or cysts are usually not malignant (benign) but the tissue growth may be aggressive in the involved area. On occasion, tissue near the jaws, such as around the sinuses and eye sockets, may become involved as well. The tissues involved are most often those that give rise to the teeth so that ameloblastoma may cause facial distortion. Malignancy is uncommon as are metastases, but they do occur.", "symptoms": "Ameloblastoma is characterized by an abnormal growth in the sinus area or jaw, often at the site of the third molar.  The tumors or cysts may be aggressive and may spread to the nose, eye socket and skull.  It is important for ameloblastoma to be diagnosed and treated early in order to stop growth of the tumors and possible progression to cancer.  Although it is uncommon, ameloblastomas have been known to become malignant and spread to other parts of the body, especially to the lungs. The initial surgical treatment must be carefully and scrupulously done to avoid recurrence.", "causes": "The cause of ameloblastoma is not understood.  Causes may include injury to the mouth or jaw, infections of the teeth or gums, or inflammation of these same areas.  Infections by viruses or lack of protein or minerals in the persons diet are also suspected of causing the growth or development of these tumors.  In general, however, scientists do not understand the cause of cysts and tumors, nor the reasons why they can become malignant.", "affected": "Ameloblastoma is a rare disorder that affects males and females in equal numbers.  It affects persons of all ethnic backgrounds and of all age groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of ameloblastoma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hard Odontoma is a tumor of dental origin.  It is composed of several characteristics of teeth such as enamel, dentin and cement.  The Hard Odontoma grows by spreading directly; the ameloblastoma grows by infiltrating other spaces.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:88661", "name_zh": "牙釉质生长不全", "Name": "Amelogenesis Imperfecta", "disease_name": "Amelogenesis Imperfecta", "synonyms": "AI", "disease-overview": "Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal enamel formation. The term is typically restricted to those disorders of enamel development not associated with other abnormalities of the body.", "symptoms": "AI is characterized by defective or missing tooth enamel.", "causes": "Just as the classification of AI is complex, so too is the contribution of genetics to these disorders. Changes (variants or mutations) in specific genes have been identified as the cause of 19 subtypes of AI. The causal gene and mode of inheritance for these subtypes based on the OMIM (Online Mendelian Inheritance in Man) is listed below:", "affected": "AI affects 1 of 14,000 to 16,000 children in the United States. Of this number, about 40% have the hypocalcified dominant type. The autosomal dominant and recessive forms of the disorder affect males and females in equal numbers. The X-linked dominant type of the disorder affects twice as many males as females. The X-linked recessive type affects only males.", "related-disorders": "Symptoms of the following disorders can be similar to those of AI. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are many syndromic conditions that affect enamel formation (or whole tooth formation). One example is tricho-dento-osseous (TDO) syndrome. TDO syndrome is one of a group of congenital disorders known as ectodermal dysplasias. The condition primarily affects hair which is strikingly curly, and the teeth. X-ray examination of persons with TDO syndrome usually shows a mild increase in bone density, particularly in the skull. Thin and brittle fingernails also occur. Children with this disorder may have to wear dentures. A person with TDO syndrome may have AI as well. Intelligence and life span are usually normal for individuals with this disorder. (For more information on this disorder, choose TDO as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:295000", "name_zh": "收缩环带综合征", "Name": "Amniotic band syndrome", "disease_name": "Amniotic Band Syndrome", "synonyms": "ABS", "disease-overview": "Amniotic band syndrome is a well-known condition associated with a variety of birth defects. The abnormalities occur in the early weeks of pregnancy after the affected parts of the body have formed normally. The severity of amniotic band syndrome can range from a single, isolated finding to multiple, disfiguring complications. The arms and legs are most often affected. The head and face and, in some patients, various internal organs can also be affected. The exact cause of amniotic band syndrome is unknown and is controversial.", "symptoms": "Several different patterns of birth defects have been identified with amniotic band syndrome. The three most common patterns are amniotic band syndrome characterized by one or more limbs being affected; the limb-body-wall complex; and amniotic band syndrome characterized by abnormalities of the head and face (craniofacial abnormalities), defects of the brain and serious malformation of the arms and legs.", "causes": "The proposed causes and underlying mechanisms that cause amniotic band syndrome are complex. The two main theories are known as the extrinsic theory and the intrinsic theory. The extrinsic theory states that amniotic band syndrome occurs due to factors found outside of the fetus (externally). The intrinsic theory states that amniotic band syndrome occurs due to factors found within the fetus (internally).", "affected": "Amniotic band syndrome is estimated to occur in anywhere from 1 in 1,200 to 15,000 live births. No gender or ethnic predispositions have been identified with amniotic band syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of amniotic band syndrome.  Comparisons may be useful for a differential diagnosis.", "diagnosis": "Amniotic band syndrome is typically diagnosed at birth or soon after birth based upon characteristic physical findings. The minimal diagnostic criteria consist of the detection of certain abnormalities of the arms, legs, fingers and/or toes, i.e., ring-like constriction or amputation defects, fusion (syndactyly) between some digits and/or strands of tissue attached to the ends of affected fingers.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:617304", "name_zh": "", "Name": "Amniotic Fluid Embolism", "disease_name": "Amniotic Fluid Embolism", "synonyms": "anaphylactoid syndrome of pregnancy", "disease-overview": "Amniotic fluid embolism (AFE) is an extremely rare, but life-threatening complication that affects pregnant women shortly before, during, or immediately following labor and childbirth. Most instances occur during labor. In this disorder, it is hypothesized that a pregnant woman has a severe, allergic reaction to amniotic fluid or other fetal material such as fetal cells, which enter the mother’s bloodstream. Amniotic fluid is contained within the amniotic sac. This fluid supports, cushions, and protects a developing fetus. Amniotic fluid embolism is unpredictable and no risk factors have been identified.  AFE can cause a severe, rapid decline in the mother’s health. For years, some researchers believed that the amniotic fluid and fetal cells cause obstruction within the mother’s blood vessels, but now most researchers believe that the mother’s immune system reacts to the amniotic fluid and fetal cells causing an overwhelming immune system response, which ends up harming the mother and the fetus. Breathing problems, cardiac arrest, and excessive bleeding are some of the life-threatening complications that can occur. Researchers and physicians do not fully understand why amniotic fluid or fetal cells entering the mother’s bloodstream causes this reaction in some women. Amniotic fluid embolism is a medical emergency that develops suddenly and rapidly and can be fatal. Early recognition and prompt supportive treatment are essential.", "symptoms": "The signs and symptoms of amniotic fluid embolism often develop rapidly. Nonspecific symptoms including headaches, chest pain, cough, sweating, nausea, and vomiting have been reported as early signs. Other common initial symptoms include difficulty breathing or shortness of breath (dyspnea), abnormally rapid breathing (tachypnea), low blood pressure (hypotension), an abnormally rapid heartbeat (tachycardia), bluish discoloration of the skin and mucous membranes due to a lack of oxygen (cyanosis) in the blood, and a deficiency in the amount of oxygen reaching the tissues of the body (hypoxia). There may be rapidly high blood pressure in the blood vessels of the lungs (pulmonary hypertension) and sudden narrowing of blood vessels (vasospasm).", "causes": "Amniotic fluid embolism is a condition that occurs because there is systemic reaction similar to that found in an allergic response to amniotic fluid or fetal cells or fetal tissue debris by the pregnant mother. The amniotic fluid and other material enters the mother’s bloodstream, most likely due to small tears in the lower part of the uterus, the part of the cervix that forms a canal connecting the vagina to the uterus (endocervix), or because of damage or abnormality affecting the placenta. The cervix is the narrow passage that forms the lower end of the uterus. The placenta is the organ that joins or connects the developing fetus to the mother. The placenta allows the transfer of oxygen and nutrients from the mother to the fetus.", "affected": "Amniotic fluid embolism is a rare complication that occurs just before, during, or immediately after birth. The number of women who have experienced this complication is unknown.  Amniotic fluid embolism is a rare disorder. Rare disorders often go unrecognized or misdiagnosed, making it difficult to determine their true frequency in the general population. Estimates have ranged from 1 in 8,000 to 1 in 80,000 pregnancies.", "related-disorders": "Symptoms of the following disorders can be similar to those of amniotic fluid embolism. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of amniotic fluid embolism is based upon identification of characteristic clinical symptoms only. To date, there are no diagnostic assays, imaging studies or pathologic markers that have been validated for the diagnosis of AFE. Prompt diagnosis and early, aggressive advanced life support techniques are essential in assuring the best possible outcomes in amniotic fluid embolism. There is a lack of internal consensus in the medical community as to diagnostic criteria for this disorder, although there have been proposed diagnostic criteria for the research reporting of AFE (Clark SL, 2016). The diagnosis is made by identifying characteristic symptoms and excluding other possible causes of the signs and symptoms (diagnosis of exclusion).", "therapies": "Amniotic fluid embolism is a medical emergency. Treatment is aggressive and supportive. A team of specialists is required to treat affected individuals. This team will include specialists in treating pain and in managing care of a patient before, during and after surgery (anesthesiologists); physicians who specialize in pregnancy, childbirth and a woman’s reproductive system (obstetricians); obstetricians who specialize in maternal and fetal health (maternal-fetal medicine specialists); physicians who specialize in the diagnosis and treatment of blood disorders (hematologists); and physicians who specialize in the treatment of critically ill patients (intensivists)."}
{"OrphaCode": "ORPHA:69", "name_zh": "淀粉样变性", "Name": "Amyloidosis", "disease_name": "Amyloidosis", "synonyms": "", "disease-overview": "General Discussion", "symptoms": "Amyloidosis is usually a multisystem disease resulting in a wide spectrum of clinical presentations. Consequently, a patient may present to, or be referred to, one of several subspecialists, most commonly a nephrologist, cardiologist or neurologist. Recent advances in therapy have rendered early and precise diagnosis critical if the patient is to fully benefit. Most patients have more than one organ involved and therefore the finding of a combination of any of the features below should heighten the suspicion of amyloidosis:", "causes": "Amyloidosis is caused by abnormal folding of normal soluble proteins leading to fibril formation in one or more body organs, systems or soft tissues. These clumps of protein are called amyloid deposits and the accumulation of amyloid deposits causes the progressive malfunction and eventual failure of the affected organ. Normally, proteins are broken down at about the same rate as they are produced, but these unusually stable amyloid deposits are deposited more rapidly than they can be broken down.", "affected": "It is estimated that there are approximately 4,000 new cases of AL amyloidosis annually in the United States, though actual incidence may be somewhat higher as a result of under-diagnosis and/or misdiagnosis. While the incidence is thought to be equal in males and females, about 60% of patients referred to amyloid centers are male. AL amyloidosis has been reported in individuals as young as 20 years of age but is typically diagnosed at about age 50-65.", "related-disorders": "The following disorders may be associated with amyloidosis. Amyloidosis may appear in conjunction with or as a result of the following disorders:", "diagnosis": "Particularly in the case of AL amyloidosis, early diagnosis is the key to survival and post treatment regaining of quality of life. The diagnosis of amyloidosis is suspected following a detailed patient history and clinical evaluation but requires aspiration of abdominal fat pad and/or biopsy of the involved organ. If the disease is suspected on clinical grounds, a biopsy of the involved organ will give the highest yield. The biopsy material is examined microscopically and is stained with a dye called Congo red that will produce a green color when looked at in a polarizing microscope if amyloid is present. When amyloidosis is diagnosed on a tissue biopsy it is essential that the affected individual be further evaluated to determine what organs are affected.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:803", "name_zh": "肌萎缩侧索硬化", "Name": "Amyotrophic lateral sclerosis", "disease_name": "Amyotrophic Lateral Sclerosis", "synonyms": "ALS", "disease-overview": "Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the progressive degeneration and eventual death of nerve cells (neurons) in the brain, brainstem and spinal cord. The neurons involved in ALS facilitate communication between the nervous system and voluntary muscles of the body (motor neurons). Normally, motor neurons in the brain (upper motor neurons) send messages to motor neurons in the spinal cord and brainstem (lower motor neurons), which then relay the message to various muscles. ALS affects both the upper and lower motor neurons so that the transmission of messages is interrupted and muscles gradually weaken and waste away. As a result, the ability to initiate and control voluntary movement is lost. ALS affects the muscles needed to move the arms and legs, to speak and swallow, to support the neck and trunk, and to breathe. The symptoms of ALS progress over time and, ultimately, the disease leads to ventilatory failure because affected individuals lose the ability to control muscles in the chest and diaphragm. Although two therapies are approved to slow the progression of the disease by a small amount (disease-modifying therapy) in the United States, the mainstay of therapy for ALS is centered on symptom control and supportive care.", "symptoms": "ALS causes a combination of upper and lower motor neuron disease, and the symptoms vary depending on the muscle controlled by the affected neurons and whether upper or lower motor neurons are predominantly affected. The main manifestations of upper motor neuron disease are muscle weakness, increased muscle tone and stiffness (spasticity), increased reflexes (hyperreflexia), and abnormal speech and swallowing. Lower motor neuron disease causes muscle weakness and wasting (atrophy), decreased muscle tone, decreased reflexes (hyporeflexia), twitching of muscle fibers (fasciculations), muscle cramps, and abnormalities of speech, swallowing, and breathing. When ALS affects the limb and trunk muscles, it leads to symptoms such as difficulty walking or falls and difficulty performing activities of daily living. When ALS affects nerves of the head and neck (cranial nerves), it can leads to bulbar symptoms, which include difficulty swallowing (dysphagia) or speaking (dysarthria) and weakness of the muscles of the face or tongue. Dysphagia can lead to complications such as difficulty feeding, choking, excess saliva or drooling, and weight loss. Dysphagia can also lead to pneumonia because of aspiration of food contents (aspiration pneumonia), when food or liquids enter the airway due to dysfunctional swallowing. Bulbar symptoms can also include emotional lability characterized by episodes of sudden, uncontrollable, and inappropriate laughing or crying (pseudobulbar affect).", "causes": "The underlying cause of sporadic ALS is not known. It is thought that dysfunction in a variety of interconnected molecular mechanisms contribute to the disease. These mechanisms include dysfunction of protein balance, folding and transport, excessive neuron stimulation (excitotoxicity), oxidative stress, neuroinflammation and dysfunction of mitochondria (the powerhouse of the cell). Ultimately, these anomalies lead to damage and death of motor neurons, hence leading to the symptoms of ALS. Only age and family history are clearly established risk factors for ALS.", "affected": "ALS is a rare disorder that develops in 1.5 to 3 per 100,000 people every year in North American and European populations. Approximately 30,000 people are affected in the United States, with an estimated 5,000 new cases diagnosed each year. ALS affects more males than females, as about 60% of affected individuals are males. Further research on the epidemiology of ALS needs to be done, as the vast majority of epidemiologic research is centered on North American and European populations.", "related-disorders": "ALS Variants", "diagnosis": "ALS is a clinical diagnosis. This means that no single test can reliably diagnose the disease. The diagnosis of ALS is therefore centered on a careful patient history and neurologic examination. Laboratory and imaging tests may be helpful to exclude other conditions depending on the clinical presentation. The diagnosis of ALS requires a history of progressive muscle weakness spreading to one or more anatomical regions and clinical evidence of upper and lower motor neuron disease, although only one type of motor neuron dysfunction might be predominant early in the disease course (see the Signs & Symptoms section above for more details on the clinical manifestations of upper and lower motor neuron disease). Electrodiagnostic studies such as electromyography (EMG) and nerve conduction studies (NCS), which evaluate transmission of nerve impulse to muscles and conduction of nerve impulse across neurons, can complement the physical examination and show further evidence of motor neuron dysfunction. Brain imaging, such as magnetic resonance imaging (MRI), is often performed in patients with suspected ALS. Although some level of brain atrophy can be seen in ALS, imaging is mostly performed to rule out other causes of motor neuron disease. Genetic testing is particularly helpful in cases of suspected familial ALS. Diagnostic delay is a common problem with ALS, with an average diagnostic delay of 1 year from symptom onset.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:251589", "name_zh": "间变性星形细胞瘤", "Name": "Anaplastic Astrocytoma", "disease_name": "Anaplastic Astrocytoma", "synonyms": "astrocytoma, grade III", "disease-overview": "Anaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. Astrocytes and similar cells form tissue that surrounds and protects other nerve cells found within the brain and spinal cord. Collectively, these cells are known as glial cells and the tissue they form is known as glial tissue. Tumors that arise from glial tissue, including astrocytomas, are collectively referred to as gliomas. The symptoms of anaplastic astrocytomas vary depending upon the specific location and size of the tumor. The specific cause of this tumor is unknown.", "symptoms": "The symptoms of anaplastic astrocytoma vary depending upon the exact location and size of the tumor. Most symptoms result from increased pressure within the brain. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly.", "causes": "The exact cause of anaplastic astrocytomas is unknown. Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation), diet, stress, and/or other factors may play contributing roles in causing specific types of cancer. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "Anaplastic astrocytomas affect males slightly more often than females. The exact incidence of these tumors is unknown. Anaplastic astrocytoma and glioblastoma multiforme are estimated to affect 5-8 people per 100,000 in the general population. Anaplastic astrocytomas are more common in adults than children. In adults, anaplastic astrocytomas usually develop between 30 and 50 years of age. Astrocytomas and a related tumor (oligodendroglioma) are the most common primary brain tumors in adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of anaplastic astrocytoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of anaplastic astrocytoma is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of imaging techniques including computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. Such imaging techniques may also be used to may be used to help evaluate the size, placement, and extension of the tumor and to serve as an aid for future surgical procedures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:367", "name_zh": "糖原分支酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to glycogen branching enzyme deficiency", "disease_name": "Andersen Disease (GSD IV)", "synonyms": "amylopectinosis", "disease-overview": "", "symptoms": "Andersen disease is a multisystem disorder that may affect the liver, voluntary (skeletal) muscles, the heart, the nervous system, and other bodily tissues. Disease nature and course may vary in several aspects, including age at onset, associated symptoms and signs, degree of abnormal glycogen accumulation in various tissues, and specific organs affected.", "causes": "As noted above, Andersen disease is a disorder of glycogen metabolism. Metabolism refers to all the chemical processes in the body, including the breakdown of complex substances into simpler ones and processes in which complex substances are built up from simpler ones. Metabolic disorders result from abnormal functioning of a specific protein or enzyme that accelerates particular chemical activities in the body.", "affected": "As noted above, the classic hepatic form of Andersen disease typically becomes apparent during the first months of life. However, other forms of the disease have also been described that may be evident at birth, during late childhood, or in adulthood. Males and females appear to be affected in relatively equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of Andersen disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are a number of other diseases and conditions that may be characterized by certain symptoms and signs similar to those potentially associated with Andersen disease. These include additional disorders of glycogen metabolism (i.e., glycogen storage diseases). As noted above, these diseases are due to deficiency of one or more enzymes involved in the formation or breakdown of glycogen, resulting in the accumulation of abnormal amounts or forms of glycogen within certain body tissues, particularly the liver, skeletal muscle, and/or heart muscle. Most of these diseases are inherited as an autosomal recessive trait. (For further information, please choose the exact disease name in question or glycogen storage disease as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:37553", "name_zh": "Andersen-Tawil综合征", "Name": "Andersen-Tawil syndrome", "disease_name": "Andersen-Tawil Syndrome", "synonyms": "Andersen syndrome", "disease-overview": "", "symptoms": "Andersen-Tawil syndrome is defined by three main features (i.e. a clinical triad), specifically periodic paralysis, arrhythmias and heart abnormalities, and distinctive physical features. However, the disorder is highly variable and not all affected individuals will develop all three of these characteristic symptoms. Andersen-Tawil syndrome can vary greatly in expression and severity from one person to another, even among members of the same family.", "causes": "In approximately 60% of cases, Andersen-Tawil syndrome is caused by a mutation in the KCNJ2 gene. In the other 40% of cases, the underlying genetic mutation is unknown, suggesting that additional as-yet-unidentified genes also cause the disorder.", "affected": "Andersen-Tawil syndrome affects males and females in equal numbers. The exact incidence or prevalence of the disorder is unknown. More than 100 cases have been reported in the medical literature. Because many cases go undiagnosed or misdiagnosed, determining the true frequency of Andersen-Tawil syndrome in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of Andersen-Tawil syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Andersen-Tawil syndrome is based upon identification of characteristic symptoms (e.g. periodic paralysis, symptomatic arrhythmias, and/or distinctive facial and skeletal features), a detailed family and patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:232", "name_zh": "镰状细胞性贫血", "Name": "Anemia of Chronic Disease", "disease_name": "Anemia of Chronic Disease", "synonyms": "anemia of chronic inflammation", "disease-overview": "Anemia of chronic disease, also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, certain infections and autoimmune and inflammatory diseases such as rheumatoid arthritis or lupus. Anemia is defined by low levels of circulating red blood cells or hemoglobin, the part of red blood cells that carries oxygen. Anemia of chronic disease is usually a mild or moderate condition. In mild cases, anemia may not be associated with any symptoms or may cause fatigue, paleness of the skin (pallor) and lightheadedness. The underlying mechanisms that cause anemia of chronic disease are complex and not fully understood.", "symptoms": "Anemia of chronic disease varies in severity from one person to another. In most people, anemia is usually mild or moderate. Affected individuals may develop a variety of symptoms such as fatigue, paleness of the skin (pallor), lightheadedness, shortness of breath, a fast heartbeat, irritability, chest pain and additional findings. These symptoms may occur in any individual who has a comparable degree of anemia. In most cases, the symptoms associated with the underlying disease usually take precedent over the mild or moderate anemia symptoms. In rare cases, anemia of chronic disease can be severe and cause more serious complications.", "causes": "The exact cause of anemia of chronic disease may vary. Usually, several processes occur at the same time. Anemia can be caused by a slight shortening of normal red blood cell survival. In addition, the production of red blood cells (erythropoiesis) or of erythropoietin (a hormone that stimulates red blood cell production) may be impaired. Red blood cells carry oxygen to the body. The exact cause of anemia of chronic disease may depend upon the underlying condition. For example, cancer cells or inflammatory diseases like rheumatoid arthritis can cause the secretion of certain substances (cytokines) that may suppress production of erythropoietin or limit the ability of immature red blood cell progenitors to respond to erythropoietin. These cytokines may also have effects on iron metabolism, as discussed below. In some cases, cancer cells or disease-causing microorganisms may infiltrate the bone marrow, the soft spongy material found in long bones where blood cells are formed.", "affected": "Anemia of chronic disease affects males and females in equal proportion. Individuals of any age who have a chronic, inflammatory condition can potentially develop the condition. The exact incidence of anemia of chronic disease is unknown and some researchers believe that it is underreported or often goes unrecognized. Anemia of chronic disease is believed to be the second most common cause of anemia in the United States after iron-deficiency anemia.", "related-disorders": "Iron deficiency anemia is a common condition in which individuals have insufficient levels of iron in the body and cannot produce enough red blood cells to carry oxygen through the body. Iron deficiency anemia can cause a variety of symptoms including fatigue, weakness, pale skin, shortness of breath, headaches and lightheadedness. Additional symptoms that can occur in individuals with iron deficiency anemia include cold hands or feet, irritability, irregular heartbeats and an increased susceptibility to developing infections. Iron deficiency anemia is caused by insufficient levels of iron in the body, which can occur due to blood loss, a diet that supplies little iron, or an inability to absorb enough iron in the gastrointestinal tract. Anemia of chronic disease and iron deficiency anemia may be confused because both are associated with decreased circulating iron.", "diagnosis": "A diagnosis of anemia of chronic disease is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Such tests can measure the levels of certain substances in the body including hemoglobin levels, levels of iron in the serum, total iron binding capacity, overall red blood cell count, or normal or increased levels of ferritin in the blood. Ferritin is a protein that binds to iron and is used as an indicator of the body’s iron stores in the blood plasma. Another test that may be performed measures transferrin saturation. Transferrin is a protein that is involved in the transport of iron from the intestines into the bloodstream. Methods to allow the reliable measurement of hepcidin in plasma have been developed but are not available or approved for use in the diagnosis of anemia of chronic disease at present.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98375", "name_zh": "自身免疫性溶血性贫血", "Name": "Anemia, Hemolytic, Acquired Autoimmune", "disease_name": "Anemia, Hemolytic, Acquired Autoimmune", "synonyms": "Anemia, Idiopathic Autoimmune Hemolytic", "disease-overview": "The autoimmune hemolytic anemias are rare disorders characterized by the premature destruction (hemolysis) of red blood cells at a rate faster than they can be replaced. Acquired hemolytic anemias are non-genetic in origin. Idiopathic acquired autoimmune diseases occur when the body’s natural defenses against invading organisms (e.g., lymphocytes, antibodies) destroy its own healthy tissues for no known reason. Normally, the red blood cells (erythrocytes) have a life span of approximately 120 days before being removed by the spleen. The severity of this type of anemia is determined by the life span of the red blood cell and by the rate at which these cells are replaced by the bone marrow.", "symptoms": "Generally symptoms of acquired autoimmune hemolytic anemia resemble those of other anemias and may include fatigue, pale color, rapid heartbeat, shortness of breath, dark urine, chills, and backache. In severe cases, yellow skin color (jaundice) may be present and the spleen may be enlarged.", "causes": "Hemolytic anemia may be caused by any one or more of several kinds of disorders. For example, contributing factors may include:", "affected": "When acquired autoimmune hemolytic anemia occurs from unknown causes, it affects twice as many women as men, specifically women under 50 years old. Cold antibody hemolytic anemia most commonly affects elderly persons, and warm antibody hemolytic anemia can affect anyone at any age.", "related-disorders": "Symptoms of the following disorder can be similar to those of Acquired Autoimmune Hemolytic Anemia. Comparison may be useful for a differential diagnosis:", "diagnosis": "Paroxysmal Nocturnal Hemoglobinuria is a disorder characterized by a decrease of red blood cells (anemia) caused by a defect in the membrane of the red blood cells. The major symptom is the presence of blood in the urine (hemoglobinuria) which occurs chiefly at night due to the breakdown of red blood cells. Other symptoms may include paleness, severe abdominal or back pain, yellowing of the skin (jaundice) and enlargement of the spleen and liver. (For more information on this disorder, choose Paroxysmal Nocturnal Hemoglobinuria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:120", "name_zh": "欧洲非罕见：恶性贫血", "Name": "Anemia, Pernicious", "disease_name": "Anemia, Pernicious", "synonyms": "Addison-Biermer Anemia", "disease-overview": "*This condition is no longer considered rare", "symptoms": "Symptoms of pernicious anemia may include fatigue, shortness of breath, rapid heart rate, jaundice or pallor, tingling and numbness of hands and feet, loss of appetite, diarrhea, unsteadiness when walking, bleeding gums, impaired sense of smell, and confusion.", "causes": "Pernicious anemia is thought to be an autoimmune disease.  Autoimmune disorders are caused when the body’s natural defenses (e.g., antibodies) against foreign or invading organisms begin to attack healthy tissue for unknown reasons.  Pernicious anemia is sometimes seen in association with certain autoimmune endocrine diseases, such as type 1 diabetes, hypoparathyroidism, Addison’s disease, and Graves’ disease.", "affected": "Slightly more women than men are affected by pernicious anemia.  The adult form is the most common, and diagnosis typically takes place at around 60 years of age.", "related-disorders": "Acquired aplastic anemia", "diagnosis": "The diagnosis of pernicious anemia may be confirmed by a thorough clinical evaluation, including a detailed patient history and specialized laboratory tests. During a Schilling test, the intestines' ability to absorb vitamin B12 is measured. The vitamin is labeled with radioactive cobalt and is ingested by mouth. X-ray studies can then determine if the body is properly absorbing this vitamin.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:563609", "name_zh": "孤立性无脑畸形", "Name": "Anencephaly", "disease_name": "Anencephaly", "synonyms": "", "disease-overview": "", "symptoms": "Pregnancies affected by anencephaly show high levels of a specific fetal protein (called alpha fetoprotein) in tests done on the mother’s blood or on amniotic fluid.  The presence of excess fluid in the amniotic sac that contains the fetus (polyhydramnios) may be noted during an ultrasound.", "causes": "Not all of the causes of anencephaly are understood.  Anencephaly can be a multifactorial condition meaning that multiple genes are involved interacting with environmental agents and chance events to cause the condition.  Anencephaly can also be a feature of some chromosomal disorders such as trisomy 18 which are usually sporadic and not familial (inherited).", "affected": "Many fetuses with anencephaly are stillborn or are spontaneously aborted, but more females are born with anencephaly than males.", "related-disorders": "The following birth defects can be similar to those of anencephaly. Comparing these terms may help you understand the difference between the diagnoses.", "diagnosis": "", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:72", "name_zh": "天使综合征", "Name": "Angelman Syndrome", "disease_name": "Angelman Syndrome", "synonyms": "AS", "disease-overview": "", "symptoms": "Angelman syndrome is associated with a broad spectrum of possible symptoms. The specific symptoms of Angelman syndrome vary from person to person. Individuals with Angelman syndrome will not have all of the symptoms discussed below. For example, some individuals with Angelman syndrome may have seizures, others may not. Most may be unable to speak while in a few there is some limited speech.", "causes": "Deficiency of the E3 ubiquitin protein ligase (UBE3A) gene expression causes Angelman syndrome. The gene is located in chromosome region 15 (15q11-q13).", "affected": "Angelman syndrome affects males and females in equal numbers. The prevalence of Angelman syndrome is estimated to be approximately 1 in 12,000-20,000 people in the general population. However, many cases may go undiagnosed making it difficult to determine the disorder’s prevalence in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Angelman syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Angelman syndrome may be made based upon a detailed patient history, a thorough clinical evaluation and identification of characteristic findings. About 80% of cases can be confirmed through a variety of specialized blood tests such as DNA methylation (detects, but does not discriminate between chromosome deletion, imprinting center defect and paternal uniparental disomy). Fluorescent in situ hybridization (FISH) or, most commonly, microarray chromosome analysis can detect the characteristic deletion (seen in 70% of cases) of chromosome 15q11-q13 in cells of the body. Mutation analysis of the Angelman gene, UBE3A, can detect about 10% of individuals with Angelman syndrome who have negative DNA methylation studies.  Mutation analysis of UBE3A can be either ordered specifically as a single test but, more often now, UBE3A mutations are identified by use of a whole exome sequencing panel that includes a group of many genes known to cause intellectual deficiency or when one performs a complete whole exome sequencing test (e.g., a screening test on approximately 20,000 genes).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:86886", "name_zh": "血管免疫母细胞性T细胞淋巴瘤", "Name": "Angioimmunoblastic T-cell lymphoma", "disease_name": "Angioimmunoblastic T-Cell Lymphoma", "synonyms": "AILD", "disease-overview": "Angioimmunoblastic T-cell lymphoma (AITL) is a rare form of non-Hodgkin lymphoma, which is a group of related malignancies (cancers) that affect the lymphatic system (lymphomas). Lymphomas are cancer of white blood cells (lymphocytes) and can be divided depending on the type of cells, B-lymphocytes (B-cells) or T-lymphocytes (T-cells), AITL is a T-cell lymphoma. The lymphatic system functions as part of the immune system and helps to protect the body against infection and disease. It consists of a network of tubular channels (lymph vessels) that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream.", "symptoms": "The specific symptoms and physical findings may vary from one person to another, depending upon the extent and region(s) of involvement and other factors. The progression is often aggressive, but spontaneous remission has occurred in some people. All organ systems can potentially be affected. Researchers believe that many of the symptoms associated with AITL result from dysfunction of the immune system rather than from complications relating to tumor growth or spread.", "causes": "The exact, underlying cause of AITL is unknown. It is believed that a dysfunctional immune system response to an unknown antigen ultimately leads to the development of the disorder. An antigen is any substance that causes the immune system to produce antibodies. The process through which a dysfunctional or abnormal immune system response ultimately progresses to lymphoma is not fully understood.", "affected": "The incidence of AITL in the general population is unknown. It is estimated to account for 1-2 percent of all people with non-Hodgkin lymphoma. Some reports state the AITL occurs slightly more often in men than women, but others state the ratio is 1:1. Most people develop AITL in their 60s and 70s. The disorder can occur in younger adults and, although rarely, has also been reported in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of AITL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AITL is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a biopsy of an affected lymph node or other affected areas such as the skin or bone marrow.", "therapies": "The diagnosis and therapeutic management of AITL may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), disorders of the blood and blood-forming tissues (hematologists), or the use of radiation to treat cancers (radiation oncologists); oncology nurses; surgeons; dietitians; and/or other healthcare professionals."}
{"OrphaCode": "ORPHA:1065", "name_zh": "无虹膜症-小脑共济失调-智力障碍综合征", "Name": "Aniridia Cerebellar Ataxia Mental Deficiency", "disease_name": "Aniridia Cerebellar Ataxia Mental Deficiency", "synonyms": "Aniridia-Cerebellar Ataxia-Mental Retardation", "disease-overview": "Aniridia, cerebellar ataxia, and mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by the absence, in whole (aniridia) or in part (partial aniridia), of the colored portion (iris) of the eye; impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain’s cerebellum (cerebellar ataxia); and mental retardation. The condition usually affects both eyes (bilateral) but a few cases have been reported in which only one eye is affected. Some individuals with this syndrome also exhibit a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). ACAMD is thought to be inherited as an autosomal recessive genetic trait and is extremely rare, with only 20 to 30 cases reported in the medical literature.", "symptoms": "Aniridia-cerebellar ataxia-mental deficiency, also known as Gillespie syndrome, is an extremely rare inherited disorder that is characterized by malformations of the eye, neuromuscular abnormalities, developmental delays, and/or mental retardation.  Some affected individuals may also exhibit additional physical abnormalities.", "causes": "The disorder aniridia, cerebellar ataxia and mental deficiency is thought to be inherited as an autosomal recessive genetic trait, but researchers have not yet been able to establish the mode of inheritance conclusively.  The genetics of the disorder are not well understood at this time.", "affected": "Aniridia, cerebellar ataxia and mental deficiency is an extremely rare inherited disorder that appears to affect females more than males, although the sample size is very low.  Only about 20 or 30 cases have been reported in the medical literature.  One report suggests that people with this syndrome make up about 2% of all patients with aniridia.", "related-disorders": "Marinesco-Sjogren Syndrome is a rare inherited disorder that is characterized by impaired coordination of voluntary movement due to underdevelopment (hypoplasia) of the cerebellum (cerebellar ataxia), clouding of the lens of both eyes (bilateral cataracts), involuntary movements of the eyes (nystagmus), difficulty speaking due to an impaired ability to control the muscles enabling speech (dysarthria), and/or mild mental retardation.  Many affected individuals exhibit additional physical abnormalities.  Marinesco-Sjogren Syndrome is inherited as an autosomal recessive genetic trait.  (For more information on this disorder, choose Marinesco-Sjogren as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of aniridia, cerebellar ataxia and mental deficiency may be made at birth if the newborn (neonate) presents with partial absence of the iris in association with hypotonia. Although partial aniridia may be obvious at birth, the other symptoms may not become apparent until later in the child's development. Therefore, the disorder usually is not diagnosed until early childhood, based upon a thorough clinical evaluation, a detailed patient history, specialized laboratory tests, and advanced imaging techniques.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:247257", "name_zh": "吸入性炭疽病", "Name": "Anthra", "disease_name": "Anthra", "synonyms": "Black Baine", "disease-overview": "Anthrax is an acute infectious disease caused by the spore-forming bacterium Bacillus anthracis. It is usually a disease of wild and domestic animals, including cattle, sheep, and goats. However, human infection, while rare, does occur. Human infection usually results from contact with infected animals or their products. However, anthrax has become of interest because of the possibility that a nation or terrorist group might attempt to use it as a weapon of warfare or terrorism. There are three types of anthrax: cutaneous (through the skin), gastrointestinal, and inhalational.", "symptoms": "Symptoms usually appear within seven days of exposure, although in some cases the incubation period has been significantly longer than this.", "causes": "Anthrax is primarily a disease of animals, specifically herbivores such as cattle, goats, and sheep. They contract the disease after coming into contact with B. anthracis spores, which are present in the soil around the world. The rare cases when humans are infected typically occur when people come into contact through their occupations with infected animals or when people eat undercooked meat or other products from infected animals. Its occurrence is most likely in developing countries, although animal products imported from those countries may pose a risk.", "affected": "Anthrax is most common in developing countries. It can be found globally, although the regions of the world with the greatest incidence of agricultural anthrax are South and Central America, Southern and Eastern Europe, Asia, Africa, the Caribbean, and the Middle East.", "related-disorders": "Influenza is a common infectious viral disease with symptoms that may appear similar to inhalational anthrax. However, anthrax does not cause runny nose, which is a typical symptom of the common cold and influenza. Also, patients with anthrax appear to have abnormal X-rays, while those with flu and other viruses do not.", "diagnosis": "Cutaneous anthrax may be diagnosed by the characteristic signs, such as the raised area on the skin and detection of the presence of the anthrax bacilli in the area of the lesion. A history of exposure to livestock or other possible animal sources also is important. Gastrointestinal anthrax is more difficult to diagnose. In the first, mild phase of inhalational anthrax, symptoms resemble a common cold or upper respiratory infection. With the sudden onset of the more severe symptoms of the second phase, radiographic examination of the chest may show characteristic changes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:80", "name_zh": "欧洲非罕见：抗磷脂综合征", "Name": "Antiphospholipid syndrome", "disease_name": "Antiphospholipid Syndrome", "synonyms": "antiphospholipid antibody syndrome", "disease-overview": "Antiphospholipid syndrome (APS) is a rare autoimmune disorder characterized by recurring blood clots (thromboses). Blood clots can form in any blood vessel of the body. The specific symptoms and severity of APS vary greatly from person to person depending upon the exact location of a blood clot and the organ system affected. APS may occur as an isolated disorder (primary antiphospholipid syndrome) or may occur along with another autoimmune disorder such as systemic lupus erythematosus (secondary antiphospholipid syndrome).", "symptoms": "The specific symptoms associated with antiphospholipid syndrome are related to the presence and location of blood clots. Blood clots can form in any blood vessel of the body. Clots are twice as likely to form in vessels that carry blood to the heart (veins) as in vessels that carry blood away from the heart (arteries). Any organ system of the body can become involved. The lower limbs, lungs and brain are affected most often. APS also causes significant complications during pregnancy.", "causes": "Antiphospholipid syndrome is an autoimmune disorder of unknown cause. Autoimmune disorders are caused when the body natural defenses (antibodies, lymphocytes, etc.) against invading organisms attack perfectly healthy tissue. Researchers believe that multiple factors including genetic and environmental factors play a role in the development of APS. In rare cases, APS has run in families suggesting that a genetic predisposition to developing the disorder may exist.", "affected": "APS affects males and females, but a large percentage of primary APS patients are women with recurrent pregnancy loss. Some estimates suggest that 1 in 5 cases of recurrent miscarriages or deep vein thromboses are due to APS. As many as one-third of cases of stroke in people under 50 years of age may be due to APS. Secondary APS occurs mainly in lupus, and about 90% of lupus patients are female.", "related-disorders": "Symptoms of the following disorders can be similar to those of antiphospholipid syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of antiphospholipid syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic physical findings (at least one blood clot or clinical finding), and a variety of tests including simple blood tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:81", "name_zh": "抗合成酶综合征", "Name": "Antisynthetase syndrome", "disease_name": "Antisynthetase Syndrome", "synonyms": "anti-synthetase syndrome", "disease-overview": "Antisynthetase syndrome is a rare, chronic disorder that can affect multiple systems of the body. The disorder is immune-mediated, which means there is inflammation resulting from abnormal functioning of the immune system and the presence of specific autoantibodies that target specific proteins in the body. The symptoms and severity of the disorder can vary greatly among affected individuals. Common symptoms include inflammation of the muscles (myositis), inflammation of several joints (polyarthritis), interstitial lung disease and thickening and cracking (fissuring) and discoloration of the skin of the fingers, called mechanic’s hands). Some individuals develop pain and numbness or a prickly feeling in the fingers and toes in response to cold (Raynaud phenomenon). During a Raynaud episode, the fingers or toes may turn white or blue.", "symptoms": "The signs and symptoms can vary greatly from one person to another. Every person is unique and how the disorder will affect them can be very different. Symptoms can develop rapidly. Affected individuals will usually not have all of the symptoms discussed below. For example, some affected individuals will have little muscle involvement, but prominent signs of lung disease. Muscle disease, interstitial lung disease and arthritis are generally considered the three main symptoms of this disorder (the classic triad), but they may not develop at the same time.", "causes": "The exact cause of antisynthetase syndrome is not fully understood. Affected individuals have autoantibodies. Antibodies are part of the immune system; they are specialized proteins that target foreign or invading organisms. Autoantibodies are antibodies that mistakenly attack healthy tissue. In antisynthetase syndrome, affected individuals have autoantibodies that target certain enzymes in the body called aminoacyl-tRNA synthetases. Enzymes are specialized proteins that help to bring about specific biochemical reactions in the body and aminoacyl-tRNA synthetases help to regulate the production of other proteins and are important for the overall health and function of the body. Researches do not know why these autoantibodies target aminoacyl-tRNA synthetases. Not every person who develops these autoantibodies will go on to develop symptoms of antisynthetase syndrome.", "affected": "Antisynthetase syndrome is a rare disorder that affects females twice as often as males. Age of onset can range from the late teens to the elderly, with a mean average of the 50s. The exact incidence or prevalence of the disorder is unknown. Because rare disorders often go undiagnosed or misdiagnosed, determining the true frequency of antisynthetase syndrome in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of antisynthetase syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of antisynthetase syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and tests that confirm the presence of autoantibodies against the one of the aminoacyl-tRNA synthetase enzymes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:82", "name_zh": "遗传性抗凝血酶缺乏所致遗传性易栓症", "Name": "Antithrombin Deficiency", "disease_name": "Antithrombin Deficiency", "synonyms": "AT 3", "disease-overview": "Antithrombin deficiency is a blood disorder characterized by the tendency to form clots in the veins (thrombosis). An inherited tendency to thrombosis is known as thrombophilia. Antithrombin is a substance in the blood that limits the blood’s ability to clot (coagulation) and the primary inhibitor of thrombin, which is required for the development of blood clots; it also is the primary inhibitor of two clotting factors, factor Xa and factor IXa, that are required for the generation of thrombin. In people with congenital antithrombin deficiency, there is a reduced amount of this substance in the blood due to a genetic abnormality. Antithrombin deficiency may also be acquired; in such cases, the disorder may be reversible with resoluton/improvement in the disease process responsible for the deficiency.", "symptoms": "People with antithrombin deficiency are at risk of developing a blood clot (thrombus) within a vein (thrombosis). The first episode of thrombosis typically occurs before the age of 40 years. A thrombus is a clump of blood cells (i.e., platelets, clotting factors, fibrin, etc.) that may become attached (adhere) to the interior wall of a blood vessel, usually a deep vein in the leg. This may be brought on by surgery, pregnancy, childbirth, trauma, or use of oral contraceptives. About 40 percent of people with antithrombin deficiency develop a thrombus that pulls away from the wall of a vein in the legs or pelvis (deep vein thrombosis or DVT) and travels through the blood stream to the lungs (pulmonary embolism or PE). Pulmonary emboli are dangerous and hence DVT and PE must be treated quickly. Thrombi also occur the superficial veins in the legs (superficial thrombophlebitis). Thrombi may also occur in the veins in the abdomen (mesenteric, portal, hepatic or splenic veins) or around the brain (sinus veins). Clots in the arteries of the heart may lead to heart attack (myocardial infarction) and clots in the arteries of the brain to stroke. However, arterial clots are rare in antithrombin deficiency.", "causes": "Antithrombin deficiency may be inherited or acquired. Inherited AT deficiency increases the risk of blood clots; acquired AT deficiency often does not. Acquired AT deficiency is the consequence of some other disorder, usually involving the liver, kidneys, or treatment of certain types of blood disorders, e.g., leukemias with a drug called L-asparaginase. Low antithrombin levels may also be temporarily associated with some other conditions such as heparin therapy, disseminated intravascular coagulation usually due to a severe infection of the blood stream, severe trauma, severe burns or the presence of acute blood clots.", "affected": "Antithrombin deficiency is a rare disorder that affects males and females in equal numbers. Type I antithrombin deficiency is the most common subtype and is thought to occur in about one in every 3,000 to 5,000 people in the United States and is not limited to any particular ethnic group. It is estimated that approximately 1 percent of people who have venous thrombosis and embolism have congenital antithrombin deficiency. The acquired form of antithrombin deficiency is more prevalent than the congenital form of the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of antithrombin deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Antiphospholipid syndrome (APLS) is an autoimmune disorder characterized by blood clots in the veins or arteries.  Clots in arteries may break away from the walls of the blood vessels and result in stroke. Women with this disorder can experience a high rate of miscarriages. Other symptoms may include inflammation and thickening of the valves of the heart, migraine headaches, and skin rashes. (For more information on this disorder, choose Antiphospholipid as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:295000", "name_zh": "收缩环带综合征", "Name": "Amniotic band syndrome", "disease_name": "Antley-Bixler Syndrome", "synonyms": "ABS", "disease-overview": "Antley-Bixler syndrome is a rare genetic disorder that can cause structural changes of the skull, bones of the face and other skeletal abnormalities. The disorder is typically associated with premature closure of joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdeveloped midfacial regions (midfacial hypoplasia), protruding eyes (proptosis), and low-set ears.", "symptoms": "Antley-Bixler syndrome is typically characterized by structural changes of the skull, bones of the face and other skeletal abnormalities. In most affected infants, there is premature closure of the joints (sutures) between different portions of the skull (craniosynostosis) Additional craniofacial abnormalities may include a large, prominent forehead (frontal bossing), underdeveloped middle regions of the face (midfacial hypoplasia); a large nose with a low nasal bridge; protruding eyes (proptosis); and low-set, malformed (dysplastic) ears.", "causes": "Antley-Bixler syndrome can be caused by mutations in two different genes. ABS1 is associated with mutations in the POR gene and is inherited in an autosomal recessive pattern. This means that a person will have ABS1 when he or she inherits two non-working copies of the POR gene, one from each parent. If an individual receives one working copy of the gene and one not working copy of the gene, the person will be a carrier for the syndrome but will not show symptoms. When both parents are carriers for the syndrome, there is a 25 percent chance the child will have ABS1. Additionally, there is fifty percent chance their child will be carriers of the condition (just like their parents) and a twenty-five percent chance that their child will receive both working copies of the gene. The risk is the same for each pregnancy.", "affected": "This condition has been described in over 30 patients to date. The estimated prevalence for the condition is less than 1 in 1,000,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of Antley-Bixler syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Primary craniosynostosis is a rare disorder of the skull. It occurs when there is an early closure of the bones (sutures) in the skull resulting in an abnormally shaped head. The severity of the symptoms and shape of the skull depend on which skull bones close early. In this condition, the head may be larger than normal due to accumulation of fluid (hydrocephaly) in the skull. (For more information on this disorder, choose primary craniosynostosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:280763", "name_zh": "严重智力障碍和进行性痉挛性截瘫", "Name": "Severe intellectual disability and progressive spastic paraplegia", "disease_name": "AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)", "synonyms": "AP-4 deficiency syndrome", "disease-overview": "", "symptoms": "Most children with AP-4-associated HSP have:", "causes": "AP-4-associated HSP are inherited in an autosomal recessive manner. The four genes that encode subunits of the AP-4 complex are AP4B1, AP4E1, AP4M1, and AP4S1.", "affected": "AP-4-associated HSP affects males and females of many ethnic groups from around the world. The prevalence of AP-4-HSP is unknown. AP-4-HSP is likely under-recognized since the symptoms (phenotypic spectrum) largely overlap with that of cerebral palsy and, in the absence of genetic testing, patients may be misdiagnosed as having cerebral palsy.", "related-disorders": "Many of the initial clinical manifestations of AP-4-associated HSP are nonspecific and may resemble other disorders characterized by spasticity, developmental delay / intellectual disability and seizures. Patients may be misdiagnosed as having cerebral palsy.", "diagnosis": "The diagnosis of AP-4-associated HSP is based on clinical characteristics and testing that may include a brain MRI showing characteristic features such as a thin corpus callosum, wide lateral ventricles and changes in the white matter. A definitive diagnosis is reached by genetic testing.", "therapies": NaN}
{"OrphaCode": "ORPHA:87", "name_zh": "Apert综合征", "Name": "Apert syndrome", "disease_name": "Apert Syndrome", "synonyms": "acrocephalosyndactyly, type I", "disease-overview": "", "symptoms": "Apert syndrome is characterized by craniosynostosis, the premature closure of the fibrous joints (sutures) between certain bones in the skull. In individuals without craniosynostosis, sutures allow an infant’s head to grow and expand. Eventually, these bones fuse together to form the skull. For people with craniosynostosis, the brain is still growing after these sutures prematurely close. The pressure of brain growth can cause various bones of the skull and face to change shape during development. Depending on which sutures prematurely close, the severity can vary. In most affected individuals, there is premature closure of the sutures between the bones forming the forehead and the upper sides of the skull. This tends to cause the head to appear pointed at the top (acrocephaly) from birth. In addition, the back portion of the skull may appear flattened, with a high and broad forehead. There can be a large, late-closing soft spot on the skull. Individuals may also have hydrocephalus, in which cerebrospinal fluid abnormally accumulates in the cavities of the brain. This can cause pressure on the brain.", "causes": "Apert syndrome is caused by a change (mutation) in the fibroblast growth factor receptor-2 (FGFR2) gene. This gene plays a critical role in skeletal development. Genes provide instructions for creating proteins that play distinct roles in our body. When a mutation of a gene occurs, the protein product may not work as it should. In Apert syndrome, mutations in FGFR2 result in these receptors not properly communicating with fibroblast growth factors. This affects the formation of normal sutures in the brain and can obstruct the development of many other structures in the body. This improper formation is what causes the malformations seen in Apert syndrome.", "affected": "Apert syndrome is estimated to occur in about one in 65,000 births. Males and females seem to have Apert syndrome in relatively equal numbers. Over 300 cases have been reported since the disorder was originally described in 1894 and 1906. Asian individuals have been reported to have the highest incidence of Apert syndrome.", "related-disorders": "Symptoms of the following disorders may be similar to those of Apert syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Apert syndrome is most often made at birth or during infancy. An individual is diagnosed through clinical evaluation and a variety of specialized tests. Physical features like facial anomalies or syndactyly would be identified. Skeletal abnormalities and congenital heart defects may be detected using imaging, like a computed tomography (CT) scan or an MRI. Hearing impairment may be detected during a newborn screening hearing test. Individuals may also have testing for mutations in the FGFR2 gene, which can provide a genetic diagnosis of Apert syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1501", "name_zh": "肾上腺皮质癌", "Name": "Adrenocortical carcinoma", "disease_name": "Aplasia Cutis Congenita", "synonyms": "ACC", "disease-overview": "Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane. The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be the primary disorder or it may occur in association with other underlying disorders.", "symptoms": "Individuals born with Aplasia Cutis Congenita lack skin (and therefore hair), in localized areas of the body, usually, but not always, on the scalp (70 percent of cases). In some cases, the trunk, arms, and/or legs may also be involved.  Sometimes, the underlying bone may be missing as well as the skin. The affected area(s) are usually replaced with a thin transparent membrane.  In some cases, these affected structures and other organs may be seen through the transparent membrane.", "causes": "Aplasia Cutis Congenita is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive trait.  Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Aplasia Cutis Congenita is a very rare disorder that affects males and females in equal numbers.  At least five hundred cases have been reported in the medical literature.  Absence of skin is obvious at birth (congenital).", "related-disorders": "Aplasia Cutis Congenita may be one of the symptoms of the following disorders.", "diagnosis": "", "therapies": "Diagnosis of Aplasia Cutis Congenita is generally obvious at birth through the characteristic absence of skin affecting the scalp, trunk, arms, and/or legs."}
{"OrphaCode": "ORPHA:70590", "name_zh": "婴儿呼吸暂停", "Name": "Apnea, Infantile", "disease_name": "Apnea, Infantile", "synonyms": "Infantile Sleep Apnea", "disease-overview": "Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms of infantile apnea include the stoppage of breathing during sleep, an abnormal bluish discoloration to the skin (cyanosis) and sometimes an unusually slow heartbeat (bradycardia). Infantile apnea may be related to some cases of sudden infant death syndrome. Episodes of apnea may decrease with age. However, several forms of adult sleep apnea also exist.", "symptoms": "The symptoms of infantile apnea include the temporary cessation of breathing; an abnormal bluish discoloration of the skin, lips, and mouth (cyanosis), and/or an unusually slow heartbeat (bradycardia).  Serious apnea is defined as the cessation of breathing during sleep for longer than 10 to 15 seconds.", "causes": "The exact cause of infantile apnea is not known.  It may occur as the result of a combination of environmental and developmental factors (multifactoral). In extremely rare cases, central infantile apnea may be familial and affect more family members than would otherwise be expected.", "affected": "Infantile apnea affects males and females in equal numbers and occurs in children less than 1 year old.  Infants who are born prematurely tend to experience episodes of apnea (apnea of prematurity).", "related-disorders": "Symptoms of the following disorders can be similar to those of infantile apnea.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Sudden infant death syndrome (SIDS) is the sudden death of any infant or young child that is unexpected, based on their medical history and for which no adequate cause for death can be found.  Infants are not breathing during a time when they are presumed to be sleeping.  The exact relationship between sudden infant death syndrome and infantile apnea is not clear.  (For more information on this disorder, choose sudden infant death as your search term in the Rare Disease Database.)", "therapies": "To help prevent the potentially severe complications of infantile apnea, home apnea and cardiac monitors can alert a parent or caregiver to an episode of symptoms. These devices should be purchased only under the advice of a physician who is knowledgeable about the safety and effectiveness of apnea and cardiac monitors. Treatment may sometimes include the administration of drugs that stimulate the respiratory system (i.e., theophylline or caffeine). Parents and caregivers should be knowledgeable in lifesaving techniques such as cardiopulmonary resuscitation (CPR). In some infants, overheating should be avoided to possibly help reduce the frequency of apneic episodes. The infant should sleep in a supine position, unless he/she has obstructive sleep apnea or gastroesophageal reflux."}
{"OrphaCode": "ORPHA:2356", "name_zh": "蛛网膜囊肿", "Name": "Arachnoid Cysts", "disease_name": "Arachnoid Cysts", "synonyms": "cysts, arachnoid", "disease-overview": "Arachnoid cysts are fluid-filled sacs that occur on the arachnoid membrane that covers the brain (intracranial) and the spinal cord (spinal). There are three membranes covering these parts of the central nervous system: the dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and they may also expand into the space between the pia mater and arachnoid membranes (subarachnoid space). The most common locations for intracranial arachnoid cysts are the middle fossa (near the temporal lobe), the suprasellar region (near the third ventricle) and the posterior fossa, which contains the cerebellum, pons, and medulla oblongata.", "symptoms": "In most cases, arachnoid cysts are present at birth (congenital), but usually do not cause any symptoms (asymptomatic) throughout an individual’s life. Less often, arachnoid cysts may develop because of head injury, the presence of a tumor, infection or surgery on the brain", "causes": "The exact cause of arachnoid cysts is not known. Researchers believe that most cases of arachnoid cysts are developmental malformations that arise from the unexplained splitting or tearing of the arachnoid membrane. According to the medical literature, cases of arachnoid cysts have run in families (familial cases) suggesting that a genetic predisposition may play a role in the development of arachnoid cysts in some individuals.", "affected": "Arachnoid cysts affect males more often than females. These cysts may occur at any age and have been found in all races and geographic locations. They are the most common type of intracranial cyst. Because many cases of arachnoid cysts have no symptoms, it is difficult to determine the true frequency of this disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of arachnoid cysts. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Brain tumors are growths in the brain that can be either cancerous (malignant) or noncancerous (benign). The symptoms of malignant and benign brain tumors are similar, and depend on the type of tumor and its location. Symptoms may include recurrent headache, seizures, emotional instability, nausea, and/or facial pain or numbness. There are many different types of brain tumors. (For more information on these disorders, choose Brain Tumor as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90", "name_zh": "精氨酸血症", "Name": "Argininemia", "disease_name": "Arginase-1 Deficiency", "synonyms": "hyperargininemia", "disease-overview": "", "symptoms": "Symptoms associated with arginase-1 deficiency differ from those associated with other disorders of the urea cycle. Most infants with arginase-1 deficiency do not exhibit any symptoms during the first few months to a year of life. Infants with arginase-1 deficiency infrequently experience severe hyperammonemia or hyperammonemic coma, which are characteristic of the other urea cycle disorders.", "causes": "Arginase-1 deficiency is inherited as an autosomal recessive genetic disorder and is caused by changes (mutations or pathogenic variants) in the ARG1 gene. Mutations in the ARG1 gene result in production of an abnormal arginase enzyme.", "affected": "Arginase-1 deficiency has been estimated to occur in approximately 1 in 300,000-1,000,000 births.", "related-disorders": "Symptoms of the following disorders may be similar to those of arginase-1 deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures and/or coma. The liver may be abnormally enlarged (hepatomegaly). In some patients, life-threatening complications may result. In addition to arginase-1 deficiency, the other urea cycle disorders are: carbamyl phosphate synthetase (CPS) deficiency; argininosuccinate synthetase deficiency (citrullinemia); argininosuccinate lyase (ASL) deficiency; ornithine transcarbamylase (OTC) deficiency; and N-acetylglutamate synthetase (NAGS) deficiency. (For more information about these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:178029", "name_zh": "中枢性尿崩症", "Name": "Arginine vasopressin deficiency", "disease_name": "Arginine Vasopressin Deficiency", "synonyms": "AVP-D", "disease-overview": "", "symptoms": "AVP-D symptoms may develop abruptly or more gradually over time and may occur at any age. Typically, individuals experience excessive urination (polyuria), even at night (nocturia), and as a result, excessive thirst (polydipsia). Some individuals with AVP-D lack thirst (adipsia) and are thus more vulnerable to dehydration from untreated AVP-D, and also hyponatremia from possible inadvertent excess fluid and synthetic AVP. The severity and progression of AVP-D varies from person to person. Some individuals may have a severe form of the disorder (complete AVP-D) with little or no AVP activity. Others may have a milder form of the disorder (partial AVP-D) with residual AVP activity.", "causes": "AVP-D is caused by partial or complete deficiency of the antidiuretic hormone, AVP. This deficiency usually results from damage to the hypothalamus or pituitary gland, often from a tumor (or surgical resection of that tumor) affecting these regions. In extremely rare cases, AVP deficiency is caused by a gene change (variant) that is inherited in an autosomal dominant or autosomal recessive pattern. In a minority of individuals, no specific cause can be identified (idiopathic AVP-D). There is speculation that there may be an autoimmune contribution. Finally, some medications, including a subset of anesthetic medications used in the intensive care unit, and novel anti-tumor therapies such as immune check-point inhibitors, can also cause AVP-D.", "affected": "AVP-D can occur at any age and affects males and females in equal numbers. Onset is more common between the ages of 10 and 20 years. The inherited form of AVP-D is extremely rare. When considering all forms, AVP-D is estimated to occur in 1 out of every 25,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of AVP-D. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AVP-D may be suspected based upon presentation with characteristic symptoms, specifically excessive thirst and excessive urination. A thorough clinical evaluation, a detailed patient history and a variety of specialized tests may be used to confirm a diagnosis. Physicians may take blood and urine samples to determine the concentration of salts and sugar within those samples. The degree of overall concentration of blood or urine is known as osmolality. Individuals with untreated AVP-D tend to have a high osmolality in the blood and a low osmolality in the urine. The urine osmolality may be approximated by the urine specific gravity, which is low in AVP-D. Often, paired blood and urine samples after the longest usual interval without drinking are sufficient to make the diagnosis of disordered AVP activity (AVP-D or AVP-R). For safety reasons, i.e., to avoid clinically significant dehydration, fluid deprivation beyond the longest usual interval is not recommended in the outpatient setting.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:23", "name_zh": "精氨基琥珀酸尿", "Name": "Argininosuccinic aciduria", "disease_name": "Argininosuccinic Aciduria", "synonyms": "arginino succinase deficiency", "disease-overview": "", "symptoms": "The severity and specific symptoms of argininosuccinic aciduria varies from one person to another. A severe form of the disorder, which is characterized by a complete or near complete lack of the ASL enzyme, occurs shortly after birth (neonatal period). A milder form of the disorder, which is characterized by partial lack of the ASL enzyme, affects some individuals later during infancy or childhood or even adulthood (late-onset form).", "causes": "Argininosuccinic aciduria is caused by changes (pathogenic variants or mutations) in the ASL gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Argininosuccinic aciduria is a rare disorder that affects fewer than a thousand people in the United States. It is estimated to affect anywhere between approximately one in 70,000 to 1 in 218,000 live births. Males and females are affected in equal numbers. Onset of symptoms usually occurs at birth but may not be noticeable for days or weeks. In some children, onset of symptoms may not occur until later during infancy or childhood.", "related-disorders": "Symptoms of the following disorders may be similar to those of argininosuccinic aciduria. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures and/or coma. The liver may be abnormally enlarged (hepatomegaly). In some people, life-threatening complications may result. In addition to argininosuccinic aciduria, the other urea cycle disorders are: carbamyl phosphate synthetase (CPS) deficiency; argininosuccinate synthetase deficiency (citrullinemia); ornithine transcarbamylase (OTC) deficiency; arginase deficiency and N-acetylglutamate synthetase (NAGS) deficiency. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35708", "name_zh": "芳香族L-氨基酸脱羧酶缺乏症", "Name": "Aromatic L-amino acid decarboxylase deficiency", "disease_name": "Aromatic L-Amino Acid Decarboxylase Deficiency", "synonyms": "aromatic amino acid decarboxylase deficiency", "disease-overview": "", "symptoms": "AADC deficiency is a disorder that manifests early in life. The symptoms can begin during the neonatal period or when the child is a few months old. There is a wide range of possible symptoms and the severity of the disease varies among affected individuals. The two most common symptoms are hypotonia in the trunk and oculogyric crises. These crises are characterized by abnormal rotation of the eyeballs and gaze deviation, uncontrolled movements of the head and neck, muscle spasms, agitation, and irritability. They can last several hours and tend to recur every 2 to 5 days. Other movement disorders can be present such as decreased movements (hypokinesia), increased muscle tone (hypertonia) in the limbs, sustained muscle contraction and abnormal postures (dystonia), involuntary writhing movements (athetosis), involuntary and irregular movements of the hands and feet (chorea), and tremors.", "causes": "AADC deficiency is caused by mutations (changes) in a gene called DDC (which stands for DOPA decarboxylase, another name for AADC). An abnormal DDC gene leads to production of a dysfunctional AADC enzyme that cannot accomplish its normal functions. Enzymes are a type of protein widely present in the body and their role is to facilitate and accelerate (catalyze) chemical reactions that have to take place in order for the body to function correctly. AADC catalyzes chemical reactions responsible for the formation (synthesis) of molecules called neurotransmitters that are essential for proper communication between neurons of the nervous system. The neurotransmitters affected by AADC deficiency are epinephrine and norepinephrine (products of dopamine and involved in the control of the sympathetic nervous system, the fight or flight branch of the autonomic nervous system), dopamine (involved in motor control, reward, and motivation), and serotonin (involved in sleep, memory, appetite, and mood). Serotonin is also required for the synthesis of melatonin, which is primarily involved in the regulation of the sleep-wake cycle. Deficiency of those neurotransmitters is responsible for the manifestations of AADC deficiency.", "affected": "AADC deficiency is an extremely rare disorder; fewer than 150 patients have been reported in the literature. Half of these cases are in Asian individuals, and a fifth are in individuals with Taiwanese ancestry. Males and females seem to be equally affected.  AADC deficiency is probably underdiagnosed. The estimated prevalence in the U.S. based on cerebrospinal fluid (CSF) analysis and genetic testing is roughly 1-3:100,000 live newborns.", "related-disorders": "The symptoms seen in AADC deficiency can be seen in numerous other disorders. Some have a very similar clinical presentation and are mostly differentiated with laboratory testing and medical imaging. Below is a list of some conditions that can present similarly to AADC deficiency, with an emphasis on neurometabolic disorders.", "diagnosis": "AADC deficiency is a very rare and complex disease with features that overlap with many other disorders (see above). A complete clinical evaluation and a high index of suspicion are required to make the diagnosis. The evaluation of a child with neurodevelopmental delay starts with a perinatal and developmental history and a complete physical examination. Although many tests, such as a complete blood count, measurement of electrolyte levels, and magnetic resonance imaging of the brain are usually performed in the diagnostic workup of a child presenting with neurodevelopmental delay, the laboratory diagnosis of AADC deficiency is centered about four specific tests:", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:3342", "name_zh": "动脉迂曲综合征", "Name": "Arterial tortuosity syndrome", "disease_name": "Arterial Tortuosity Syndrome", "synonyms": "ATS", "disease-overview": "", "symptoms": "Researchers have been able to establish a clear syndrome with characteristic or core symptoms, but much about ATS is not fully understood. It has been difficult to determine a complete picture of associated symptoms and prognosis because of the small number of identified patients, the lack of large clinical studies and the possibility of other genes influencing the disorder.", "causes": "Arterial tortuosity syndrome is caused by variants in the SLC2A10 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain.", "affected": "Arterial tortuosity syndrome affects males and females in equal numbers. Approximately 100 cases have been reported in the medical literature. The exact incidence and prevalence are unknown. The male to female ratio is 1:1. Because affected individuals may go undiagnosed or misdiagnosed, determining the true frequency of arterial tortuosity syndrome in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of arterial tortuosity syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ATS is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The diagnosis can be confirmed with molecular genetic testing for variants in the SLC2A10 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:141174", "name_zh": "下颌动静脉畸形", "Name": "Arteriovenous Malformation", "disease_name": "Arteriovenous Malformation", "synonyms": "AVM", "disease-overview": "Arteriovenous malformation (AVM) is a vascular lesion that is a tangle of vessels of varying sizes in which there is one or more direct connections between the arterial and venous circulations. In the lesion there is no capillary bed, which is part of normal tissue. Brain AVMs are often presumed to be congenital, but there is no direct evidence that they form in utero. The distribution of age at detection for brain AVMs is normally-distributed with the mean age in the mid-30’s. Although a small number of AVMs manifest themselves at or shortly after birth, most of them present later in life, and just as likely, form and progress during the later years of life. The lack of capillaries allows blood traveling through the abnormal fistulous connections to flow rapidly. The low resistance of the direct A-V connections, termed fistulas, results in very high flow rates in the vessels leading to and within the AVM. These high flow rates can lower the pressure in the arteries leading to the AVM and to surrounding relatively normal brain tissue. Further, because of the direct A-V connections, the pressure in the arteries, even if somewhat reduced, are transmitted to the veins draining the AVM and surrounding brain, which normally operate at very low pressures. AVM can occur in many different parts of the body, but those located in the central nervous system (brain and spinal cord) can cause problems that affect the brain like other forms of stroke.", "symptoms": "Symptoms of AVM occur only after a highly variable amount of damage to the brain or spinal cord has occurred: this ranges from minor symptoms such as headache to devastating rupture with hemorrhagic stroke. A small percentage of AVMs are detected incidentally during investigation of unrelated medical problems and are completely asymptomatic. AVMs cause damage to the brain or spinal cord by several mechanisms: directly reducing oxygen to neurological tissues through (a) a change in vascular pressures; (b) compression of adjacent neural tissue by the abnormal vascular structures of the AVM; (c) bleeding (hemorrhage) into surrounding tissues. Bleeding has several adverse effects including exerting pressure on adjacent neural tissue and also by leaving toxic blood products in contact with neural tissue.", "causes": "AVM are often attributed to result from an error in embryonic or fetal development, but there is no direct evidence of this assertion. No environmental risk factors have been identified for neurological AVM. AVM does not usually run in families, but somewhere on the order of 5% of AVMs may be due to autosomal dominant inheritance of a genetic mutation, most commonly hereditary hemorrhagic telangiectasia or the capillary malformation-AVM syndrome. AVM can rarely be associated with certain syndromes such as Wyburn-Mason syndrome.", "affected": "AVM affects males and females in equal numbers. There does not appear to be an increased risk for particular ethnic and racial groups. The best estimates for new detection of an AVM are 1 per 100,000 population per year (about 3000 new cases detected per year in the U.S.) The population prevalence is about 10 per 100,000, i.e., there are probably about 30,000 individuals in the U.S. who harbor an AVM or have had an AVM that was treated. They occur throughout life, but the peak onset of symptoms is 35-40 years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of arteriovenous malformation. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A variety of imaging studies are used to diagnose AVM. Noninvasive imaging technologies that are used to diagnose AVM are computed axial tomography (CT) and magnetic resonance imaging (MRI). CT is particularly useful in identifying a hemorrhage but can identify only large AVM. MRI is necessary for the initial diagnosis of AVM. Magnetic resonance angiography (MRA) can be used to determine the pattern and speed of blood flow through AVM but can miss small lesions.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3287", "name_zh": "Takayasu大动脉炎", "Name": "Arteritis, Takayasu", "disease_name": "Arteritis, Takayasu", "synonyms": "Aorta Arch Syndrome", "disease-overview": "Takayasu arteritis is a rare disorder characterized by the progressive inflammation of one or more of the larger arteries leading from the heart. The main artery of the heart (aorta) and the pulmonary (lung) artery, among others, may be affected. When this disorder causes progressive inflammation of many arteries, it is known as polyarteritis. One of the consequences of polyarteritis is the reduction of blood flow to any of several organs and/or arms and legs. Arteries in the head and arms may be affected, and this can result in the loss of the major pulse points in the body. Some people with Takayasu arteritis have irregular narrowing of portions of the large arteries (segmental stenosis) and abnormal backward flow of blood from the aorta into the left ventricle of the heart (aortic regurgitation). Other patients may have symptoms of ballooning and weakening (aneurysm) of the wall of a major vessel.", "symptoms": "About half of the patients with Takayasu arteritis display a general feeling of weakness (malaise).  In addition, patients may complain of muscle aches (myalgias), and joint pain (arthralgias).  Progressive obstructive arterial disease and narrowing of the arteries (stenosis) may follow the initial phase of the disease.  When the aorta and the major arteries in the neck (carotid arteries) are affected by Takayasu arteritis, the patient usually experiences lightheadedness, dizziness, and brief moments of unconsciousness (syncope). These symptoms are the result of a  decrease in blood supply to the brain (cerebral ischemia).  The pulses that are normally found in the neck and on the temples (carotid and superficial temporal pulses) may be absent. Most often, progression of the arteritis is slow so that there is sufficient time to develop adequate alternate circulation (collateral or secondary circulation).", "causes": "The exact cause of Takayasu arteritis is not known.  Certain laboratory findings, such as elevated levels of globulins and the presence in serum of unusual antibodies, suggest a defect in the immune system and a possible autoimmune association.  Autoimmune disorders are caused when the body’s natural defenses (e.g., antibodies) against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "Takayasu arteritis is a rare disorder that affects more females than males. Approximately 80 to 90 percent of the cases affect females.  This disorder is common in Japan, and occurs throughout the Orient.  Takayasu arteritis has been reported in India and South America.  The symptoms of this disorder typically begin between 15 and 35 years of age although it can affect children as well.  It is estimated that between 2 and 3 new cases per million are recorded in the USA population per year.", "related-disorders": "Symptoms of the following disorders can be similar to those of Takayasu arteritis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Giant cell arteritis is a generalized vascular disorder characterized by inflammation of the arteries resulting from the accumulation of granular tissue.  This causes abnormal changes in the walls of the arteries. Inflammation is generally confined to the different branches of the aortic arch, particularly the temporal arteries.  Symptoms may begin suddenly or there may be a gradual onset of low-grade fever, joint stiffness, and weakness.  In some cases people may have a sore throat, cough, and/or hoarseness.  Involvement of the temporal arteries may result in headache, throbbing or stabbing sensation in the temples, and scalp tenderness.  (For more information on this disorder, choose giant cell arteritis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:29207", "name_zh": "反应性关节炎", "Name": "Arthritis, Infectious", "disease_name": "Arthritis, Infectious", "synonyms": "Bacterial Arthritis", "disease-overview": "Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.", "symptoms": "The symptoms of infectious arthritis depend upon which agent has caused the infection.  The symptoms usually include fever (which may be quite high), chills, general weakness and headaches, followed by inflammation of one or more joints.  The affected joint or joints often become very painful, swollen, slightly red and stiff within a few hours or days.  Rapid onset of symptoms may indicate that a bacterium is the cause.  In a few people, however, the infection develops slowly, over a period of months or even years.  This slower developing infection is more often the result of a viral or fungal infection than a bacterial one.", "causes": "Any disease-causing microbe may infect a joint.  Bacteria are most often responsible, typically producing an acute arthritic attack.  In young children the most common bacteria are staphylococci, haemophilus influenzae, and gram- negative bacilli.  Older children and adults are most commonly infected with gonococci, staphylococci, streptococci or pneumococci.  Acute infectious arthritis at any age may be associated with rubella, mumps or hepatitis B infections.  Fungi and fungi-like bacteria such as mycobacterium tuberculosis, etc may cause chronic infectious arthritis.  People with rheumatoid arthritis and chronically inflamed joints are particularly susceptible to infectious arthritis.", "affected": "Infectious arthritis can affect people of all ages and both sexes.  About half of all cases involve adults over the age of 60.  The incidence is reported as 2-10 cases per 100,000 of general population.  For patients with immunologic disorders, the incidence increases to about 30-70 cases per 100,000 people.  In gonococcal arthritis, the disorder is found in three times as many women as men.", "related-disorders": "Rheumatoid Arthritis is a chronic disease characterized by  usually symmetric inflammation of the peripheral joints, which can eventually result in progressive destruction of joints.  Generalized symptoms may also be present.", "diagnosis": "A thorough history and physical examination are essential for diagnosis. Blood tests as well as tests of the fluid commonly found in the joints are essential for identification of the infecting agent and to confirm diagnosis. Once the infecting agent is known, an appropriate course of treatment may be designed.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1037", "name_zh": "先天性多发性关节挛缩", "Name": "Arthrogryposis multiplex congenita", "disease_name": "Arthrogryposis Multiplex Congenita", "synonyms": "AMC", "disease-overview": "Arthrogryposis is a general or descriptive term for the development of nonprogressive contractures affecting one or more areas of the body prior to birth (congenitally). A contracture is a condition in which a joint becomes permanently fixed in a bent (flexed) or straightened (extended) position, completely or partially restricting the movement of the affected joint. When congenital contractures occur only in one body area, it is not referred to as arthrogryposis but rather an isolated congenital contracture. The most common form of an isolated congenital contracture is clubfoot. When arthrogryposis affects two or more different areas of the body, it may be referred to as arthrogryposis multiplex congenita (AMC). The most common form of AMC is amyoplasia. Arthrogryposis and arthrogryposis multiplex congenita are sometimes used interchangeably.", "symptoms": "The most common universal symptom of AMC is limited or absent movement around small and large joints (contractures). The contractures are present at birth (congenital). The muscles of the affected limbs may be underdeveloped (hypoplastic), resulting in a tube-shaped limb with a soft, doughy feeling. Soft tissue webbing may develop over the affected joints.", "causes": "The cause of AMC depends on the specific type. For many types, the cause is not fully understood. Arthrogryposis or AMC is not a specific diagnosis, but a physical finding that can be associated with numerous disorders and conditions. AMC is thought to be related to decreased movement in utero, which can have multiple causes. Neurologic and muscle problems may well be the most common causes of decreased fetal movement, but connective tissue disorders, maternal illness and limited space are also common causes. Some cases of AMC occur as part of rare genetic disorders that are inherited. Some cases of AMC are related to multiple factors including genetic and environmental ones (multifactorial inheritance).", "affected": "The number of males and females affected by AMC is approximately equal. The condition has been reported in individuals of Asian, African and European descent. Isolated congenital contractures affect approximately 1 in 500 individuals in the general population. AMC affects approximately 1 in 3,000 individuals.", "related-disorders": "", "diagnosis": "A diagnosis of AMC is made based upon identification of characteristic symptoms (e.g., multiple congenital contractures), a detailed patient history and a thorough clinical evaluation. Certain tests may be necessary to determine the underlying cause of AMC including nerve conduction, electromyography and muscle biopsy, which can help diagnose neuropathic or myopathic disorders. A nerve conduction study measures how rapidly nerves carry an electrical impulse. Electromyography is a test that records electrical activity in skeletal voluntary muscles at rest and during muscle contraction. A biopsy is a procedure in which a small amount of affected tissue (e.g., muscle) is removed and studied under a microscopic to detect characteristic changes or findings that can aid in obtaining a diagnosis. Imaging studies of the central nervous system (CNS) and genetic tests including comparative genomic hybridization (CGH) array, microarray, and exome studies may also be useful studies in making a diagnosis. Because variants in many genes can lead to arthrogryposis, whole genome sequencing is often required (preferably in both parents for comparison as well) to make a diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2697", "name_zh": "关节挛缩-肾功能不全-胆汁淤积综合征", "Name": "Arthrogryposis Renal Dysfunction Cholestasis Syndrome", "disease_name": "Arthrogryposis Renal Dysfunction Cholestasis Syndrome", "synonyms": "ARC", "disease-overview": "Arthrogryposis renal dysfunction cholestasis syndrome (ARC) is a very rare genetic condition. The condition is present at birth, but symptoms may not be noticed until later in a child’s life. The name of the condition describes the symptoms. Arthrogryposis comes from the Greek word for bent describing limbs that are difficult to straighten. Renal dysfunction refers to the kidneys not working. Cholestasis comes from the Greek word for bile referring to a problem with the flow of bile, a substance which normally helps the body digest fats.", "symptoms": "People with ARC typically have:", "causes": "ARC type 1 is caused by disease-causing variants in the VPS33B gene. ARC type 2 is caused by disease-causing variants in the VIPAS39 gene.", "affected": "ARC affects males and females in equal numbers. ARC is very rare, affecting less than 1,000 people worldwide.", "related-disorders": "", "diagnosis": "The diagnosis of ARC can be made when an infant has symptoms of arthrogryposis (limbs that are difficult to straighten), renal dysfunction (kidneys are not removing acid from the bloodstream) and cholestasis (bile is not flowing normally). When a diagnosis is suspected based on these clinical symptoms, genetic testing can be done to identify disease-causing variants in both copies of the VPS33B gene or the VIPAS39 gene.", "therapies": "The treatment of ARC is directed towards the specific symptoms that are present. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedists, dermatologists, nephrologists, hepatologists, physical therapists, feeding therapists, dieticians and other health care professionals may be needed for an individual’s treatment and to look for limb, kidney and skin problems and other internal organ problems. Families of children with complex medical needs may benefit from a case worker to navigate the healthcare system. Genetic counseling is recommended for families of individuals with ARC. Other treatments for this disorder are symptomatic and supportive."}
{"OrphaCode": "ORPHA:333", "name_zh": "法伯病", "Name": "Farber disease", "disease_name": "ASAH1-Related Disorders", "synonyms": "acid ceramidase deficiency", "disease-overview": "ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a deficiency of the enzyme acid ceramidase. Enzymes are specialized proteins that act to bring about biochemical reactions in the body. The acid ceramidase enzyme is required to help break down certain fatty substances – called ceramides – in the body. Because the activity of this enzyme is reduced, these fatty substances build up abnormally in the cells and tissues of the body. This can cause a variety of signs and symptoms based on where the fatty substance builds up and how much of it builds up. The most common form of ASAH1-related disorder is called Farber disease, which can present in several different ways. The most common presentation is characterized by the three main symptoms: small bumps beneath the skin (subcutaneous nodules), joint disease, and hoarseness of voice. Some people will have additional symptoms, or different symptoms, that can include heart (cardiac), neurological, or breathing problems. A specific form of ASAH1-related disorder is called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), which is characterized by muscle weakness and degeneration, specifically in the legs, as well as seizures. ASAH1-related disorders can be best thought of as a spectrum of disease that can affect one person very differently from how it affects another person. This is true even for members of the same family. The signs, severity, and age of onset of symptoms can all be very different and can range from mild to severe. ASAH1-related disorders are inherited in an autosomal recessive manner.", "symptoms": "small bumps beneath the skin (subcutaneous nodules), joint disease, and hoarseness of voice. Some people will have additional symptoms, or different symptoms, that can include heart (cardiac), neurological, or breathing problems. A specific form of ASAH1-related disorder is called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), which is characterized by muscle weakness and degeneration, specifically in the legs, as well as seizures. ASAH1-related disorders can be best thought of as a spectrum of disease that can affect one person very differently from how it affects another person. This is true even for members of the same family. The signs, severity, and age of onset of symptoms can all be very different and can range from mild to severe. ASAH1-related disorders are inherited in an autosomal recessive manner.", "causes": "ASAH1-related disorders are caused by variations (mutations) in the ASAH1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "ASAH1-related disorders are extremely rare disorders. They affect males and females in equal numbers. Fewer than 200 individuals have been described in the medical literature. However, rare disorders like ASAH1-related disorders often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of ASAH-1-related disorders. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be suspected in infants or children with characteristic early signs.", "therapies": "Treatment may require the coordinated efforts of a team of specialists. Pediatricians, physicians who specialize in the diagnosis and treatment of neurological disorders in children (pediatric neurologists), neurologists, physicians who specialize in the diagnosis and treatment of disorders of the bones and skeleton (orthopedists), physicians who specialize in the diagnosis and treatment of eye disorders (ophthalmologists), physicians who specialize in the diagnosis and treatment of skin disorders (dermatologists), speech pathologists, physical therapists, pain specialists, and other healthcare professionals may need to systematically and comprehensively plan treatment."}
{"OrphaCode": "ORPHA:137686", "name_zh": "Asherman 综合征", "Name": "Asherman Syndrome", "disease_name": "Asherman Syndrome", "synonyms": "intrauterine synechiae", "disease-overview": "Asherman’s syndrome is a rare, acquired, gynecological disorder of the uterus. It is characterized by the bonding of scar tissue that lines the walls of the uterus, which decreases the volume of the uterine cavity. The bonding of uterine scar tissue (intrauterine adhesions or synechiae) may occur as a result of surgical scraping or cleaning of tissue from the uterine wall (dilatation and curettage [D and C]), infections of the endometrium (e.g., genital tuberculosis), or other factors. Asherman’s syndrome  can be severe (greater than 75% of the front and back walls of the uterus can fuse together) to moderate and mild, where only smaller portions of the uterine wall fuses together. Patients can experience a range of symptoms depending on the severity of the disease, including reduced menstrual flow, increased cramping and abdominal pain, eventual stoppage of menstrual cycles (amenorrhea), and, in some women, infertility. Current treatment options include hysteroscopic surgery as well as preventive (Foley catheter) and restorative therapies (hormone treatment). Newer options like stem cell treatments are also currently being explored to treat severe cases of Asherman’s syndrome.", "symptoms": "Most patients with Asherman’s syndrome experience menstrual blood flow that is sparse (hypomenorrhea) or absent (amenorrhea) along with increased cramping and abdominal pain. Some patients may experience interrupted menstrual blood flow with substantial pain, while others may not have any abnormal changes to their menstrual cycle or experience any pain. Recurrent miscarriages and/or infertility may also be signs of Asherman’s syndrome. In more severe cases, adhesion of uterine scar tissue can also lead to either a partial or full blockage of the uterus or cervical canal that can cause retrograde menstruation (menstruation blood that flows backwards into the fallopian tubes instead of being expelled from the body).", "causes": "Asherman’s syndrome is most commonly caused by trauma to the uterus through surgical scraping or cleaning of the uterine wall (dilatation and curettage, also known as D & C). D & C is generally performed to clear the uterine lining following a miscarriage or abortion or to treat certain uterine conditions such as heavy bleeding.  D & C after a miscarriage is one of the highest risk factors for Asherman’s syndrome. The scraping of the uterine lining following this procedure can lead to scar tissue that can adhere, leading to Asherman’s syndrome. Other types of surgery to the uterus such as removal of fibroids or polyps or surgical repair of structural defects in the uterus can cause scar tissue formation which is also a risk factor for Asherman’s syndrome. Factors that trigger inflammation in the uterus known as endometriosis and sporadic inflammation of the uterus have been linked to Asherman’s syndrome. Infection and inflammation of the uterus caused by bacteria (genital tuberculosis) and parasites such as blood flukes are also risk factors for Asherman’s syndrome.", "affected": "Since Asherman’s syndrome involves changes in the uterus, it is limited to the female population. While exact statistics on the prevalence of this condition are not known, the highest frequency of this condition has been reported in Israel, Greece, and South America. Overall, occurrence of Asherman’s syndrome does not seem to be related to any factor associated with geographic location. Genetic predisposition in patients to Asherman’s syndrome has not been identified. Women who have suffered miscarriages or underwent D & C in the first month postpartum have a higher risk for the condition.", "related-disorders": "Symptoms of the following disorders can be similar to those of Asherman’s syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Primary amenorrhea is the absence of menstruation by the age of 15 or three years after the first signs of breast development. This is most often due to abnormal hypothalamic gonadotropic-releasing hormone levels (GnRH, sex cell growth hormone) Symptoms include incomplete or underdeveloped external genitalia and breasts, ovarian deficiency, and underactive pituitary.", "therapies": "Therapies for Asherman’s syndrome focus on restoring the uterus to its original size and shape. The therapies can be divided into three primary approaches: treatment – hysteroscopic surgery, re-adhesion prevention, and uterus restoration therapies. Mild cases of Asherman’s syndrome may only require surgical treatment, while more severe cases may require all three approaches. Most cases of Asherman’s syndrome can be cured with treatment."}
{"OrphaCode": "ORPHA:464343", "name_zh": "灾难相关抗磷脂综合征", "Name": "Catastrophic antiphospholipid syndrome", "disease_name": "Asherson Syndrome", "synonyms": "Catastrophic Antiphospholipid Syndrome", "disease-overview": "Asherson’s syndrome is an extremely rare autoimmune disorder characterized by the development, over a period of hours, days or weeks, of rapidly progressive blood clots affecting multiple organ systems of the body. Conditions such as infections, immunizations, wounds caused due to physical trauma and failure in the anticoagulation mechanism of the body usually act as triggers.", "symptoms": "The symptoms of Asherson’s syndrome are caused by complications resulting from the development of multiple blood clots (thromboses) in the body. Multiple blood clots may form in a matter of hours, days or weeks, potentially causing life-threatening multiorgan failure.", "causes": "Asherson’s syndrome is a rare autoimmune disorder. Autoimmune disorders are caused when the body natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly begin to attack perfectly healthy tissue. Researchers believe that multiple factors including genetic and environmental factors play a role in the development of autoimmune disorders.", "affected": "Approximately 300 individuals have been identified with Asherson’s syndrome since the disorder was first defined in the medical literature in 1992. More women have been affected than men. The disorder can occur at any age, although most cases have been reported in young adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of Asherson’s syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Asherson's syndrome is made based upon a thorough clinical evaluation, identification of characteristic findings (e.g., multiple blood clots affecting at least three different organ systems that arise simultaneously within one week), and a variety of tests including simple blood tests that can detect antiphospholipid antibodies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93", "name_zh": "天冬氨酰葡萄糖胺尿症", "Name": "Aspartylglucosaminuria", "disease_name": "Aspartylglycosaminuria", "synonyms": "AGA", "disease-overview": "Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation. Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body.", "symptoms": "Aspartylglycosaminuria is a lysosomal storage disease characterized by normal development during the first months of life after which abnormal development begins to occur.  Diarrhea and infections that keep reoccurring are noticed. After the first few years facial features begin to get coarse which continues during the following years.  The skeleton may become deformed and the ocular lens may develop crystalline deposits.  Mental deterioration may begin to occur after age five and behavior problems are common.  Lung, heart and blood problems tend to occur in later years.  The patient may show mental retardation uneven development of the head and face with sagging cheeks, a wide nose and broad face.  The spine may be twisted (scoliosis) and the neck may be unusually short.  Adult stature is usually below normal.", "causes": "Aspartylglycosaminuria is a lysosomal storage disease.  Lysosomes are cell particles containing enzymes that break down large molecules.  A deficiency of the lysosomal enzyme, aspartylglycosamidase, causes the accumulation of a substance known as aspartylglucosamine in the body, resulting in disorders in the various body systems.", "affected": "Aspartylglycosaminuria is a rare disorder that affects males and females in equal numbers.  However, in Finland where the majority of cases are reported, there are an estimated 130 cases in 4.5 million persons.  In the rest of the world, the condition is extremely rare and affects persons of various heritages.", "related-disorders": "Symptoms of the following disorders can be similar to those of Aspartylglycosaminuria. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The Mucopolysaccharidoses (MPS) are a group of hereditary lysosomal storage diseases.  They are characterized by abnormal accumulation of mucopolysaccharides, especially in the cartilage and bones.  These deposits are also found in the arteries, skeleton, eyes, joints, ears, skin and teeth. In general these disorders are progressive.  The child may appear normal at birth and around the age of one begin to show signs of both growth and mental retardation.  (For more information on this disorder, choose Mucopolysaccharidoses as your search term in the Rare Disease Database.)", "therapies": "Treatment of Aspartylglycosaminuria is symptomatic and supportive. Genetic counseling may be of benefit for families."}
{"OrphaCode": "ORPHA:1163", "name_zh": "曲霉菌病", "Name": "Aspergillosis", "disease_name": "Aspergillosis", "synonyms": "", "disease-overview": "Aspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world. More than 180 different types of Aspergillus have been identified and more are continuing to be identified. Most of these molds are harmless. However, some types can cause a variety of diseases in humans ranging from simple allergic reactions to life-threatening invasive disease. Collectively, this group of diseases is referred to as aspergillosis and is broadly broken down into three categories – allergic, chronic and invasive. There are several different forms including allergic bronchopulmonary aspergillosis, allergic Aspergillus sinusitis, invasive aspergillosis, cutaneous (skin) aspergillosis and chronic pulmonary aspergillosis, which also has several different presentations. Aspergillosis rarely develops in healthy individuals; most people breathe in these spores every day without any issues. An infection is much more likely to develop in individuals who have an underlying condition such as asthma, cystic fibrosis and previous lung disease, or who have taken corticosteroid drugs for a long period of time, or in individuals who have a weakened immune system, including people who have low levels of neutrophils, a type of white blood cell that helps the body fight off infection and heal itself (neutropenia), or who are taking drugs that suppress the immune system (immunosuppressive drugs) such as people who have had a bone marrow or organ transplant. In most instances, aspergillosis develops when susceptible individuals breathe in (inhale) Aspergillus spores. Aspergillosis is not contagious and cannot be transmitted from one person to another.", "symptoms": "The symptoms of aspergillosis vary depending upon the specific form of the disorder present. The lungs are usually affected. Aspergillosis can present as an allergic reaction, an isolated finding affecting a specific area of the body (e.g., the lungs, sinuses or ear canals), or as an invasive infection that spreads to affect various tissues or organs of the body.", "causes": "Aspergillosis is a fungal infection caused by certain types of molds. They are found throughout nature (ubiquitous) and can be found in the soil and decaying organic matter like decaying vegetation. They can be found indoors, especially in heating or cooling ducts or in insulation. There are about 180 species of Aspergillus, but only about 40 are known to be associated with disease in humans.", "affected": "Aspergillosis is a rare fungal infection. The exact number of people who develop this infection in the United States is not known because there is no national surveillance of this infection. Mild cases may go undiagnosed. According to the medical literature, the incidence of aspergillosis is increasing. Aspergillosis has been reported all over the world. Allergic bronchopulmonary aspergillosis has been estimated to affect about 1-4 million people worldwide. Chronic pulmonary aspergillosis is estimated to affect about 3 million people worldwide. Invasive aspergillosis is uncommon, as it affects specific patient populations. Many forms are rare. Aspergillosis can potentially affect individuals of any age.", "related-disorders": "Symptoms of the following disorders can be similar to those of aspergillosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of aspergillosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as bronchoscopy with biopsy, x-rays, antigen skin tests, tissue culture or blood tests. Allergic bronchopulmonary aspergillosis should be suspected in individuals with difficult to control asthma or cystic fibrosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93270", "name_zh": "短肋-多指综合征，Saldino-Noonan型", "Name": "Asphyxiating Thoracic Dystrophy", "disease_name": "Asphyxiating Thoracic Dystrophy", "synonyms": "asphyxiating thoracic dysplasia", "disease-overview": "", "symptoms": "ATD is characterized by abnormal development of the rib cage (thorax) resulting in a small thoracic cavity. The characteristic bell-shaped chest cavity restricts the growth of the lungs and results in a variable degree of lung hypoplasia and breathing problems (respiratory distress) in the newborn period.", "causes": "Mutations in 24 genes have been found to cause ATD to date. The genes are: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC 1/2 and KIAA0586/0753.", "affected": "The incidence of ATD is about 1 in 100,000 to 150,000 live births. Males and females appear to be affected in equal numbers, as do persons of various ethnic or racial backgrounds.", "related-disorders": "The following disorders have presentations that can be similar to those of ATD and should be considered for a differential diagnosis.", "diagnosis": "ATD is diagnosed based on clinical presentation as well as radiologic findings of short ribs and abnormalities of the pelvis and limbs. A combination of breathing difficulties in the presence of a small, narrow chest, along with obvious shortened limb development is usually sufficient for a diagnosis. Molecular genetic testing is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:94", "name_zh": "星形细胞瘤", "Name": "Astrocytoma", "disease_name": "Astrocytoma", "synonyms": "", "disease-overview": "An astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the brain include oligodendrocytes and ependymal cells. Collectively, these cells are known as glial cells and the tissue they form is known as glial tissue. Tumors that arise from the glial tissue, including astrocytomas, are collectively referred to as gliomas.", "symptoms": "Symptoms of grade I and grade II astrocytomas are subtle because the brain is able to temporarily adapt to the presence of a slow-growing tumor. Symptoms of grade III and grade IV astrocytomas may be sudden and debilitating. Symptoms can result from increased pressure within the brain and may include headaches, vision changes and nausea or vomiting. Symptoms may also occur based on the location of the tumor due to interference with normal brain function and include focal seizures, difficulty with speaking, loss of balance and weakness, paralysis or loss of sensation of one side of the body. Fatigue and depression are common in individuals with an astrocytoma.", "causes": "The cause of most astrocytomas is not known. Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation), diet, stress, and/or other factors may play contributing roles in causing specific types of cancer. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "Grade I astrocytoma occurs most often in children and teens and account for 2% of all brain tumors. Grade II astrocytoma occurs most often in adults between the ages of 20 and 60. Grade III astrocytoma occurs most often in adults between the ages of 30 and 60, is more common in men and accounts for 4% of all brain tumors. Grade IV astrocytoma occurs most often in adults between the ages of 50 and 80, is more common in men and accounts for 23% of all primary brain tumors.", "related-disorders": "Symptoms of the following disorders can be similar to those of astrocytomas. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Motor neuron disease is a group of neuromuscular disorders characterized by the progressive degeneration of motor neurons, the nerve cells that control movement and reflex. Symptoms of Motor Neuron Diseases may include muscle weakness, spasms and exaggerated reflexes.", "therapies": "Grade I astrocytoma: Surgery is the standard treatment. Total surgical removal of accessible astrocytomas is often possible and successful. Accessible tumors are those that can be operated on without causing unacceptably severe damage to other parts of the brain. If surgery is performed, the surgeon will attempt to remove all identifiable parts of the astrocytoma when possible. When the astrocytoma involves a crucial part of the brain, partial removal of the growth usually reduces pressure, relieves symptoms and helps control seizures."}
{"OrphaCode": "ORPHA:352577", "name_zh": "ASXL3基因缺陷所致严重喂养困难-发育停滞-小头畸形综合征", "Name": "Bainbridge-Ropers syndrome", "disease_name": "ASXL3-Related Disorder", "synonyms": "Bainbridge-Ropers syndrome", "disease-overview": "ASXL3-related disorder, also known as Bainbridge-Ropers syndrome, is a neurodevelopmental disorder that was first described by Bainbridge et al. in 2013. It is associated with changes (pathogenic variants or mutations) in the ASXL3 gene.", "symptoms": "Developmental delay and intellectual disability", "causes": "ASXL3-related disorder is caused by pathogenic or likely pathogenic variants in the ASXL3 gene. The majority of variants are new mutations that result in a shortened protein product that does not function properly.", "affected": "ASXL3-related disorder has been described all over the world and is not population specific.", "related-disorders": "The characteristics of ASXL-related disorder can be similar to other disorders including ASXL1-Bohring-Opitz syndrome and ASXL2-Shashi-Pena syndrome.", "diagnosis": "ASXL-related disorder may be suspected based on the signs and symptoms associated with the disorder. The diagnosis is confirmed with genomic testing that shows a pathogenic variant in the ASXL3 gene.", "therapies": "Multidisciplinary care is recommended and includes management of multiple subspecialty appointments, equipment, medications and supplies. Ongoing assessment for palliative care involvement and/or home nursing is needed."}
{"OrphaCode": "ORPHA:100", "name_zh": "毛细血管扩张性共济失调", "Name": "Ataxia Telangiectasia", "disease_name": "Ataxia Telangiectasia", "synonyms": "AT", "disease-overview": "Ataxia telangiectasia (AT) is a complex neurodegenerative disorder. Symptoms associated with AT usually present during the preschool years between one and four years of age. An unsteady gait (ataxia) is often the first sign of AT. Symptoms that distinguish AT from other disorders include an impaired ability to coordinate eye movements (oculomotor apraxia) and episodes of involuntary movements (choreoathetosis). Progression of ataxia is associated with cerebellar degeneration, and many school-age children with AT are dependent on wheelchair assistance.", "symptoms": "The name ataxia telangiectasia refers to two major symptoms associated with AT. One major symptom is diminished muscle coordination and voluntary muscle control (ataxia). Another is the development of red or purple clusters of dilated blood vessels (telangiectasias) on mucous membranes and the sun-exposed areas of the skin, often visible by age six. The severity of symptoms can vary, but AT usually affects coordination of muscle control and immune and pulmonary responses to infection and stress. The symptoms are discussed below.", "causes": "AT is caused by pathogenic variants (mutations) in the ATM gene. The ATM gene codes for a serine/threonine protein kinase. A kinase is a biological catalyst (enzyme) that speeds up the addition of phosphate groups to other molecules. The serine/threonine protein kinase belongs to the PI3 kinase-like kinases (PIKKs) family. It is primarily located in the cell nucleus. The ATM kinase activates and interacts with multiple different molecules. Currently, the best-known function of the ATM protein is to coordinate the repair of double strand breaks in DNA, the hereditary material that carries the genetic code. Double strand breaks in DNA can damage the cell. The ATM protein can activate certain enzymes to fix broken strands of DNA. This repair is essential to maintain the stability of the cell’s genetic information.", "affected": "In the United States, the prevalence of AT is approximately 1:40,000 to 1:100,000 live births. Males and females are affected in equal numbers. Certain ethnic groups may have a higher prevalence of AT due to a founder effect.", "related-disorders": "There are several disorders that present similar symptoms or laboratory findings to AT. These symptoms are typically related to the loss of motor functions. Information is provided below about such disorders. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ataxia telangiectasia is made based upon a detailed patient history, thorough clinical evaluation, identification of characteristic symptoms and a variety of specialized tests including genetic testing, blood tests and magnetic resonance imaging (MRI).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:96", "name_zh": "共济失调伴维生素E缺乏症", "Name": "Ataxia with vitamin E deficiency", "disease_name": "Ataxia with Vitamin E Deficiency", "synonyms": "AVED", "disease-overview": "", "symptoms": "Individuals usually show symptoms between 5 and 20 years of age. Symptoms and the severity of AVED may be different from person to person. Without treatment, symptoms may get worse as the person grows older.", "causes": "AVED is caused by changes (mutations or pathogenic variants) in the TTPA gene, which provides instructions to synthesize the alpha-tocopherol transfer protein (αTTP) . This protein controls the distribution and transportation of vitamin E from the liver to other cells and tissues throughout the body, including the brain. Individuals with AVED have non-working genes for TTPA and therefore, vitamin E cannot be properly distributed throughout the body especially to the brain where it is necessary for proper function. AVED is characterized by very low levels of vitamin E in the blood and tissues in the brain. Without normal levels of vitamin E in the tissues, an individual with AVED experiences damage to the body from lack of protection from damaging free radicals.", "affected": "AVED affects both males and females equally. The disorder is estimated to occur in fewer than 1 in 1,000,000 people. North African populations are most affected with AVED. Other cases have been reported in the Mediterranean region and Northern European countries. There have been cases in Asian countries such as Japan, China and the Philippines. The onset of AVED can occur during childhood or adulthood with cases reported ranging in children as young as 2 and adults as old as 52. Typically, the disease presents in individuals between ages 5 and 20 years. The disorder was first described in the medical literature in 1981.", "related-disorders": "The following disorders present with symptoms that can be similar to those of AVED. Comparisons of these disorders may be useful for a differential diagnosis:", "diagnosis": "Friedreich’s ataxia is a genetic, progressive, neurologic movement disorder that typically shows symptoms before adolescence. AVED and Friedreich’s ataxia share many similar symptoms, however Friedreich’s ataxia is not associated with any vitamin E deficiency. In Friedreich’s ataxia, the nerves in the spinal cord and the peripheral nerves gradually become thinner, causing symptoms to worsen over time. Symptoms in the beginning may include unsteady posture, frequent falling and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria), and an irregular curvature of the spine (scoliosis). Friedreich’s ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain and irregularities in heart rhythm (cardiac arrhythmias). Friedreich’s ataxia is inherited in an autosomal recessive pattern. (For more information on this disorder, choose Friedreich’s ataxia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98791", "name_zh": "16号染色体连锁α-地中海贫血-智力障碍综合征", "Name": "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16", "disease_name": "ATR-16 Syndrome", "synonyms": "alpha-thalassemia-intellectual disability syndrome, chromosome 16-related", "disease-overview": "", "symptoms": "Researchers have experienced difficulty establishing a clear syndrome with characteristic or core symptoms and much about the disorder is not fully understood. In many cases, there are other chromosomal abnormalities (in addition to the deletion on chromosome 16) and it is difficult to determine what symptoms are associated with what chromosomal abnormality. In addition, the small overall number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Not surprisingly, the specific symptoms and severity of ATR-16 syndrome can vary greatly from one individual to another. But it is clear that the larger the loss of genetic material from chromosome 16 the more severe the consequences.", "causes": "ATR-16 syndrome is caused by the loss or deletion of genetic material affecting multiple genes that are next to (adjacent) to one another on chromosome 16, specifically from band 13.3 on the short arm (p) to the end (terminus) of the chromosome.", "affected": "ATR-16 syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown. Cases may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. More than 20 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of ATR-16 syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ATR-16 syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1195", "name_zh": "先天性无转铁蛋白血症", "Name": "Congenital atransferrinemia", "disease_name": "Atransferrinemia", "synonyms": "congenital atransferrinemia", "disease-overview": "Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess iron in the body (hemosiderosis). Symptoms may vary based upon the severity of anemia and upon the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth delays. Atransferrinemia is principally caused by mutations of the transferrin (TF) gene and is inherited as an autosomal recessive trait. Atransferrinemia is classified as an iron overload disorder. A milder form of atransferrinemia, known as hypotransferrinemia, is caused by mutations in the same gene.", "symptoms": "The symptoms and severity of atransferrinemia vary from one person to another depending upon the specific location and extent of iron accumulation in the body. Some individuals may develop mild symptoms, others may develop serious, life-threatening complications.", "causes": "Atransferrinemia / hypotransferrinemia is principally caused by mutations of the transferrin (TF) gene. It is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Atransferrinemia is an extremely rare disorder. Approximately 10 cases in 8 families have been reported in the medical literature. Because atransferrinemia may go unrecognized or misdiagnosed, determining its true frequency in the general population is difficult. Atransferrinemia affects males and females in equal numbers. Atransferrinemia was first described in the medical literature in 1961.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary atransferrinemia/hypotransferrinemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of atransferrinemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Laboratory tests can reveal low or undetectable levels of transferrin in the blood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1478", "name_zh": "房间隔缺损", "Name": "Interatrial communication", "disease_name": "Atrial Septal Defects", "synonyms": "ASD", "disease-overview": "Atrial septal defects (ASDs) are a group of rare disorders of the heart that are present at birth (congenital) and involve a hole in the wall (septum) that separates the two upper-chambers (atria) of the heart.", "symptoms": "Ostium secundum atrial septal defect is the most common form of this group of heart defects.  The middle portion of the atrial septum in the region of the foramen ovale fails to close during fetal development.  The size of the opening may vary, along with the severity of the symptoms.", "causes": "Most cases of atrial septal defects occur on their own for no apparent reason (sporadically).  The exact nature of the developmental defect or defects that may occur during embryonic development (embryogenesis) remain unclear.", "affected": "Atrial septal defects are rare congenital heart defects that affect more females than males (2 or 3:1).   Approximately 1 percent of all infants in the United States are born with a form of congenital heart defect.  About 10 percent of these infants have atrial septal defects.", "related-disorders": "Symptoms of the following disorders may be similar to those of atrial septal defects.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrioventricular septal defect is a rare heart defect that is present at birth (congenital) and is characterized by the improper development of the septa and valves of the heart.  Infants with the complete form of the defect usually develop congestive heart failure.  Excessive fluid accumulates in other areas of the body, especially the lungs.  This pulmonary congestion may lead to difficulty breathing (dyspnea).  Other symptoms may include a bluish discoloration of the skin (cyanosis), poor feeding habits, abnormally rapid breathing (tachypnea) and heart rate (tachycardia), and/or excessive sweating (hyperhidrosis).  Adults with atrioventricular septal defect may experience abnormally low blood pressure, irregular heartbeats, and/or a rapid heartbeat.  (For more information on this disorder, choose atrioventricular septal defect as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98722", "name_zh": "房室间隔缺损", "Name": "Atrioventricular septal defect", "disease_name": "Atrioventricular Septal Defec", "synonyms": "Atrioventricular Canal Defects", "disease-overview": "Atrioventricular septal defect (AVSD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with AVSDs have improperly developed atrial and ventricular septa and adjoining valves.", "symptoms": "Infants with the complete form of atrioventricular septal defect usually develop a limited ability to circulate blood to the lungs and the rest of the body resulting in fluid buildup in the heart, lung and various body tissues (congestive heart failure). Pulmonary congestion may lead to difficulty breathing (dyspnea) and fatigue. Infants with complete atrioventricular septal defect often have a bluish discoloration of the skin and mucous membranes (cyanosis) due to insufficient oxygen supply to these tissues.", "causes": "The exact cause of atrioventricular septal defect is not known (idiopathic). This birth defect can occur alone with no apparent cause (sporadically), or it can occur in association with other disorders such as Down syndrome.", "affected": "Atrioventricular septal defect affects males and females in equal numbers. Approximately 50 percent of cases occur in association with other disorders, especially Down syndrome. AVSD may also occur with other congenital heart defects, in 10 percent of cases it occurs in association with patent ductus arteriosus or tetralogy of Fallot. (For more information on these disorders, choose the exact disorder name as your search term in the Rare Disease Database.)", "related-disorders": "Symptoms of the following disorders can be similar to those of atrioventricular septal defect.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrial septal defects are common congenital heart defects characterized by the presence of a small opening between the two atria of the heart.  This defect leads to an increase in the workload on the right heart, and excessive blood flow to the lungs.  The symptoms, which may become apparent during infancy, childhood, or adulthood, can vary greatly and depend on the severity of the defect.  The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, abnormal bluish discoloration of the skin and/or mucous membranes (cyanosis).  Some people with atrial septal defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism) blocking blood circulation.  (For more information on this disorder, choose atrial septal defect as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2134", "name_zh": "非典型溶血尿毒综合征", "Name": "Atypical hemolytic uremic syndrome", "disease_name": "Atypical Hemolytic Uremic Syndrome", "synonyms": "aHUS", "disease-overview": "", "symptoms": "The onset of atypical hemolytic uremic syndrome ranges from before birth (prenatally) to adulthood. In young children, the disorder often develops suddenly and usually follows an infection, particularly an upper respiratory infection or gastroenteritis. When it follows an episode of gastroenteritis it can more easily be confused with Stx HUS which almost always is preceded by diarrhea. The disease has different causes and can be unpredictable in how it will progress in one individual as opposed to another.", "causes": "Most cases of aHUS are associated with mutations amongst the multiple genes that produce (encode) proteins involved in the alternate pathway of complement, which is part of the complement system of the innate immune system. The complement system is a complex group of proteins that work together to fight infection in the body. Complement proteins respond to bacteria, viruses or other foreign substances in the body and ultimately produce a large multi-protein complex that directly attacks these foreign invaders. Other complement proteins regulate the formation of this attack complex in order to protect the body’s own cells from being damaged. Most individuals with aHUS have a mutation in one or more of the genes that encode these regulatory proteins.", "affected": "In childhood, aHUS affects males and females in equal numbers. In adulthood, females are affected more often than males, most likely because pregnancy is a triggering event. The exact overall incidence and prevalence is unknown. One study placed the incidence in the United States at 2 individuals per 1 million in the general population. In Europe, the disorder is estimated to affect approximately .11 per 1 million individuals between the ages of 0-18. aHUS accounts for approximately 5-10% of all cases of hemolytic uremic syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of aHUS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosing aHUS is complicated by the fact that it is more difficult to establish without a family history of the disorder. The diagnostic criteria associated with aHUS are hemolytic anemia (anemia in the presence of broken red blood cells), low platelet count (thrombocytopenia) and kidney dysfunction. aHUS is considered genetic when two or more members of the same family are affected by the disease at least six months apart and exposure to a common triggering infectious agent has been excluded, or when a disease-causing mutation(s) is identified in one of the genes known to be associated with aHUS, irrespective of familial history.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:529808", "name_zh": "慢性胆红素脑病", "Name": "Auditory Neuropathy Spectrum Disorder", "disease_name": "Auditory Neuropathy Spectrum Disorder", "synonyms": "auditory de-synchrony", "disease-overview": "", "symptoms": "If you are a parent and notice any or all of the following, it’s essential to consult a doctor.", "causes": "Sound waves usually enter thought the outer ear and travel via the ear canal. When they arrive at the eardrum, it vibrates. Those vibrations are then transmitted via a series of bones to the cochlea, a fluid-filled structure with a membrane that contains two types of cells: outer and inner hair cells. The inner ones are responsible for 95% of the information sent to the brain via the auditory nerve, while the outer cells amplify the sound stimulus. Damage to any of these sites may lead to hearing loss. A defect in the inner hair cells, the auditory nerve, the connection between them or the connection between the nerve and brain can lead to ANSD. If any or all are affected, the brain will receive a disorganized signal (hard to understand) or no signal at all (functionally deaf). Most of the time, ANSD affects both ears, but in some patients it can affect only one ear. A head injury can cause a lesion in the auditory nerve and lead to ANSD. However, this cause is rare and auditory neuropathy is most often due to health problems before or during birth, especially in children.", "affected": "Auditory neuropathy occurs equally in males and females with a slightly higher frequency in males. Prevalence and incidence remain uncertain as many studies report different figures due to the variability of clinical presentations in ANSD patients. Overall, it is estimated that 1 to 3 children per 10,000 births are affected by this disorder. It can occur at any stage of life. Children, adults and seniors can be affected. However, in most cases, it’s detected in newborns, particularly those admitted to the neonatal intensive care units (NICU). In the NICU, 10 to 15% of the babies are diagnosed with a sensorineural hearing loss (SNHL).", "related-disorders": "There are other disorders that result in hearing loss due to damage to outer hair cells that are different from ANSD. These include acquired hearing loss related to aging or noise exposure, hearing loss at birth from infections (rubella, herpes simplex) and genetic conditions such as Usher syndrome.", "diagnosis": "There are several tests that may be performed when someone is suspected of having hearing problems. In most screening programs, only the otoacoustic emission (OAE) is used, which is insufficient to detect ANSD. ANSD is classically characterized by normal OAE with an abnormal auditory brainstem response (ABR) test. Measuring the middle ear muscle reflex (MEMR) test or cochlear microphonic (CM) tests can be helpful in the diagnosis of ANSD. The following tests may be ordered:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2137", "name_zh": "自身免疫性肝炎", "Name": "Autoimmune hepatitis", "disease_name": "Autoimmune Hepatitis", "synonyms": "AIH", "disease-overview": "", "symptoms": "Symptoms can vary from person to person with AIH; some may not even have any symptoms. Common initial symptoms can include fatigue, nausea, vomiting, abdominal pain, weight loss, light colored stools, dark colored urine, joint pain, rashes, and loss of menstruation in women. Some may develop an enlarged liver (hepatomegaly) and/or spleen (splenomegaly).", "causes": "At this time, the exact cause of autoimmune hepatitis is unknown. It is believed to be due to a combination of environmental, genetic, and immunologic factors. A few environmental triggers, such as prescribed medications and infections, have been associated with the development of AIH. Some of the medications thought to play a role in those with drug-induced AIH include nitrofurantoin, minocycline, and hydralazine. Infections such as viral hepatitis (hepatitis A, B, C, and D), herpes simplex virus, and cytomegalovirus have also been linked to disease onset.", "affected": "Autoimmune hepatitis is a rare disorder that affects females 4 times as often as males. Type 1 is more common and is usually diagnosed in adults. Type 2 is more common in children and often involves a more severe disease process. There are also variant types of AIH; these include individuals with AIH and one of the other autoimmune liver diseases (primary sclerosing cholangitis or primary biliary cholangitis).Those with other autoimmune conditions have a 25-50% chance of developing another one and thus a higher risk for developing AIH. The new cases per year (incidence) are estimated at 1-2 per 100,000 and total cases (prevalence) are approximately 24 per 100,000. Studies suggest that the incidence of AIH is increasing and the reason is unknown.", "related-disorders": "Other disorders can have similar symptoms to autoimmune hepatitis and need to be considered when making a diagnosis.", "diagnosis": "Diagnosis of AIH can be complex, and is frequently completed after going through several steps. This includes meeting with your doctor to discuss your past medical problems, your current symptoms, a complete physical exam, blood work, and a liver biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3143", "name_zh": "自身免疫性多内分泌腺病2型", "Name": "Autoimmune Polyendocrine Syndrome Type II", "disease_name": "Autoimmune Polyendocrine Syndrome Type II", "synonyms": "Diabetes Mellitus, Addison's Disease, Myxedema", "disease-overview": "Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, is a rare autoimmune disorder in which there is a steep drop in production of several essential hormones by the glands that secrete these hormones. When first described, this disorder was thought to involve only adrenal insufficiency (Addison’s disease) and thyroid insufficiency (Hashimoto’s thyroiditis). However, over time, as more patients were studied, the scope of the disorder was expanded to include disorders of other underperforming endocrine glands. These include the gonads, which secrete sex hormones; the pancreas which secretes insulin and is intimately tied up with diabetes mellitus; and sometimes the parathyroid glands. Failure of the endocrine glands to function is usually accompanied by signs of malnutrition because the ability of the intestinal tract to absorb nutrients is reduced dramatically.  Since the combination of affected glands differs from patient to patient, the signs of this disorder are diverse.", "symptoms": "Many conditions and symptoms are associated with this disorder.  The symptoms may vary greatly among affected individuals.", "causes": "The exact cause of AIPS-II is not known, but it is thought to result from one or more abnormal immune responses.  Autoimmune reactions occur when, for reasons not quite clear, the body mistakenly reacts to a normal antibody as if it were a foreign one.", "affected": "Report suggest that the prevalence of AIPS-II is about 14 to 20 cases per million of population and that it affects females 3 to 4 times as often as it does males.  AIPS-II usually strikes in the third or fourth decade of life.", "related-disorders": "Symptoms of the following disorders can be similar to those of Schmidt Syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "APECED Syndrome (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal) is a very rare genetic syndrome involving the autoimmune system.  APECED Syndrome is a Type I polyglandular Autoimmune syndrome.  This disorder is characterized by a combination of at least two of the following diseases: Hypoparathyroidism, Adrenocortical Failure or Candidiasis.  Beginning in childhood, yeast infections of either the mouth or nails is usually one of the first apparent symptoms of this syndrome.  There may be an inability to adequately absorb nutrients with resulting diarrhea.  Anemia, autoimmune thyroid disease, and loss or delay of sexual development may also occur. (For more information on this disorder choose APECED Syndrome as your search term in the Rare Disease Database.)", "therapies": "Each disorder in a case of autoimmune polyendocrine type II is treated separately. For many of the specific disorders, treatment is focused on hormone replacement therapy."}
{"OrphaCode": "ORPHA:3453", "name_zh": "自身免疫性多内分泌腺病1型", "Name": "Autoimmune polyendocrinopathy type 1", "disease_name": "Autoimmune Polyglandular Syndrome Type 1", "synonyms": "APS-1", "disease-overview": "Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms including potentially life-threatening endocrine gland and gastrointestinal dysfunctions. Autoimmune disorders occur when antibodies and immune cells are launched by the body against one or several antigens of its own tissues. APS-1 is caused by changes (mutations) in the autoimmune regulator (AIRE) gene. HLA-DR/DQ genes also play a role in predisposing to which of the component autoimmune disease the patient actually develops.", "symptoms": "While the symptoms of APS-1 are variable in each patient, they often will have components of at least two of the three major conditions that result from this syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency.", "causes": "APS-1 is caused by mutations in the AIRE gene. To date, more than 60 mutations in the AIRE gene have been identified in people with APS-1.", "affected": "APS-I is a very rare disorder that tends to cluster in certain homogenous populations, including certain groups of Finns, Iranian Jews, and Sardinians. However, it can be found in numerous populations and among multiple ethnic groups. In the US, APS-1 probably affects as few as 1 in every 2-3 million newborns.", "related-disorders": "The following disorders, which are components of APS-1, can also occur on their own, separate from the diagnosis of APS-1:", "diagnosis": "APS-1 is diagnosed definitively through DNA analysis (via blood test) of mutations in the AIRE gene. The diagnosis should be strongly considered in people under 30 years of age who present with at least two of the three typical disease components (CMC, hypoparathyroidism, and/or Addison’s disease). Recently, typical AIRE mutations have been identified in patients who have only one of these three cardinal features, but have other less common APS-1 associated autoimmunities. Since virtually all APS-1 patients have interferon autoantibodies, such antibodies when more freely available will serve as a less expensive diagnostic test.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:436166", "name_zh": "周期性发热-小儿小肠结肠炎-自体炎症综合征", "Name": "Autoinflammation with Infantile Enterocolitis", "disease_name": "Autoinflammation with Infantile Enterocolitis", "synonyms": "AIFEC", "disease-overview": "Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and affects patients throughout adulthood. AIFEC is caused by a change (mutation) in the NLRC4 gene, resulting in increased inflammation and damage to healthy tissues (autoinflammation). Patients with NLRC4 mutations present with enterocolitis (inflammation of the digestive tract causing diarrhea) in infancy and flares of severe and sometimes life-threatening autoinflammation throughout life. Macrophage activation syndrome (MAS), the type of autoinflammation seen in AIFEC, causes fevers, enlarged spleen, blood disturbances, and can progress to organ damage and death if not treated.", "symptoms": "AIFEC is characterized by a variety of symptoms related to the activation of inflammatory processes. The overactivation of the patient’s immune system is destructive to the patient’s healthy tissues and may be life-threatening. Symptoms often occur in flares alternating with largely symptom-free periods. The exact cause of the flares is not completely understood, but may be linked to emotional stress, physical stress, and/or stresses on the immune system such as viral or bacterial infections.", "causes": "AIFEC is caused by a mutation in the NLCR4 gene resulting in activation of the NLRC4 protein, an important component of the immune system in healthy individuals. Proteins found on the surface of certain bacteria such as Salmonella and Pseudomonas are normally recognized by a receptor (NAIP) found on the patient’s immune system and intestinal cells – this is a way for the human body to recognize foreign bacteria so that it can begin to fight them off. When the NAIP receptor senses bacteria, it then activates NLRC4. Once activated, NLRC4 quickly works with other proteins to form a complex called the NLRC4 inflammasome. This inflammasome complex works inside cells of the immune system (including macrophages) to generate inflammatory cytokines, like IL-1 and IL-18, and to trigger cells infected with the bacteria to die. The activated immune system can also cause intestinal cells infected with the bacteria to be shed into the gut lumen. This causes diarrhea, but also prevents the bacteria from crossing over from the gut into the rest of the body where they could cause more damage.", "affected": "Very few patients have been identified with the activating NLRC4 mutations that cause AIFEC. Seven patients have been identified since the first patients were diagnosed in 2014. Due to the low number of patients, it is so far unclear what puts patients at increased risk of acquiring the disease-causing mutation other than having a parent with the disease.", "related-disorders": "NLRC4 gene mutations (different ones than those implicated in AIFEC) are also associated with familial cold autoinflammatory syndrome (FCAS4). Symptoms of FCAS4, which occur after exposure to cold temperatures, included fevers, joint and muscle pain, skin rashes, conjunctivitis (pink eye), and limb swelling. (For more information on this condition, search for FCAS in the Rare Disease Database.)", "diagnosis": "The physician will first perform a clinical evaluation based on the patient’s symptoms. Blood tests will likely show a variety of blood abnormalities including: markers of inflammation (high CRP, high ferritin, high IL2R), signs of overactive NLRC4 (high IL18), as well as pancytopenia (decreased cells in the blood). Exam of the patient’s gastrointestinal tract (endoscopy or colonoscopy), including intestinal biopsies, may show intestinal lesions/injuries and inflammation in infants. A bone marrow biopsy may show signs that overactive immune cells are targeting healthy cells. If skin lesions are present, the physician may biopsy them to see if inflammatory cells are present. Eventually genetic tests will show an activating mutation of the NLCR4 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99", "name_zh": "常染色体显性遗传小脑型共济失调", "Name": "Autosomal Dominant Hereditary Ataxia", "disease_name": "Autosomal Dominant Hereditary Ataxia", "synonyms": "episodic ataxia", "disease-overview": "", "symptoms": "Ataxia is most often associated with degeneration of the region of the brain known as the cerebellum where movement, posture, and balance are coordinated. Thus, many of the symptoms and signs are those expected from cerebellar dysfunction. Ataxia may also be associated with damage (lesions) to the spinal cord. Symptoms and signs often include a characteristic wide-based and unsteady way of walking (gait) that may be accompanied by awkward eye-hand coordination and slow, weak, or imprecise speech.", "causes": "As noted above, some forms of the hereditary ataxias are transmitted in a dominant mode, others are transmitted through a recessive mode, and still others are transmitted in an X-linked fashion. This report deals with the disorders transmitted in an autosomal dominant fashion.", "affected": "Hereditary ataxias affect males and females in equal numbers. It is estimated that 150,000 people in the United States are affected by, or at risk for, hereditary ataxia. There is variation among the specific forms of hereditary ataxia as to when they typically first appear. Some ataxias are more common in certain ethnic groups.  For example, SCA3 is more common in the Portuguese population, SCA10 is more common in the Mexican population, and DRPLA is more common in Japan.", "related-disorders": "Symptoms of the following disorders can be similar to these conditions. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Olivopontocerebellar atrophy (OPCA) refers to a group of ataxias characterized by progressive neurological degeneration affecting the cerebellum, the pons and the inferior olives. OPCA may be classified based on clinical, genetic, or neuropathological findings; thus, there are many classifications of the disorder. Many of these cases now fall into the SCA category and the term OPCA is relatively unused nowadays. Among the different classifications, there is wide variation in severity and age of onset. The symptoms of OPCA differ from person to person. Most patients experience difficulty with balance and coordination of the legs and arms (ataxia) and slurred speech (dysarthria). Other symptoms may include muscle spasms or weakness and stiffness of the muscles; numbness or tingling of the hands or feet; shaking (tremor) of the hand or arm; reduction or slowness of movements; loss of thinking and/or memory skills; difficulty controlling the bladder or bowels; and feeling faint when standing up. Some patients also have fatigue and/or trouble with sleep. Generally, symptoms of OPCA begin in mid-adult life and progress slowly over the course of many years. (For more information on this disorder, choose Olivopontocerebellar Atrophy, Hereditary as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2314", "name_zh": "常染色体显性高IgE综合征", "Name": "Autosomal Dominant Hyper IgE Syndrome", "disease_name": "Autosomal Dominant Hyper IgE Syndrome", "synonyms": "AD-HIES", "disease-overview": "Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder. Symptoms often become apparent early during infancy or childhood. The disorder is characterized by repeated bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features. The first symptom is often the development of a dry, red flaky skin rash (eczema) at birth or early during infancy. Researchers have discovered that mutations in the STAT3 gene cause AD-HIES in over 60% of the patients. Most cases of AD-HIES occur as the result of a new mutation in this gene. There are two main forms of hyper IgE syndrome – one inherited in an autosomal dominant pattern and one in an autosomal recessive pattern. Both involve defects of the immune system and elevated levels of immunoglobulin E (hyper IgE) in the blood. For years, researchers considered them different expressions of the same disorder, but now researchers consider them similar, yet distinct disorders.", "symptoms": "The symptoms of AD-HIES may vary greatly from person to person. AD-HIES affects the immune system as well as the development of the skeleton, connective tissue, and teeth. Symptoms may become apparent at birth, during infancy, or during early childhood. In some cases, symptoms may not become apparent until adulthood, and it is not uncommon that the diagnosis is made late.", "causes": "Mutations in the STAT3 gene cause AD-HIES. The STAT3 gene is responsible for production of one of the signal transducer and activator of transcription (STAT) proteins that are involved in signaling the immune system to respond to pathogens. The mutations associated with AD-HIES result in a normal amount of STAT3 protein produced but the function of the protein is affected resulting in defective host defense.", "affected": "AD-HIES affects males and females in equal numbers and occurs in all ethnic groups. More than 200 cases of hyper IgE syndrome (both the dominant and recessive forms) have been described in the medical literature. However, these disorders may often go unrecognized or misdiagnosed, making it difficult to determine their true frequency in the general population. Although AD-HIES is present during infancy, diagnosis may not be made until adolescence and, in some cases, adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of AD-HIES. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of AD-HIES is made based upon a thorough clinical evaluation, especially a detailed patient history and identification of characteristic findings by a physician with experience with the syndrome. Laboratory studies that may aid in a diagnosis include blood tests that demonstrate elevated levels of IgE in the blood and elevated levels of certain white blood cells known as eosinophils (eosinophilia). IgE levels may drop to normal or near normal levels in adulthood and, therefore, normal IgE levels in an adult do not necessarily rule out a diagnosis of AD-HIES.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:730", "name_zh": "常染色体显性多囊肾病", "Name": "Autosomal dominant polycystic kidney disease", "disease_name": "Autosomal Dominant Polycystic Kidney Disease", "synonyms": "ADPKD", "disease-overview": "Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the formation of cysts within the kidneys. Symptoms caused by cyst formation in the kidneys include high blood pressure (hypertension), pain on the sides of the body between the last rib and the hip (flank pain), blood in the urine (hematuria) and progressively poor function of the kidneys (kidney insufficiency).   In most patients, ADPKD eventually progresses to cause end stage renal disease, requiring renal replacement therapy, either dialysis or renal transplantation. ADPKD is not simply a kidney disorder and other organ systems of the body can potentially be affected (multisystem disorder) by the development of cysts. The specific symptoms present in each person depend upon the specific organ systems involved. The liver, pancreas, a membrane covering the spinal cord and brain (arachnoid membrane), the prostate, and the glands of the male reproductive tract that produce fluid that is part of semen (seminal vesicles) may become involved. Abnormalities affecting the heart and blood vessels (cardiovascular system) may also occur in individuals with ADPKD. ADPKD usually does not become apparent until the fourth or fifth decade and was once known as adult polycystic kidney disease. However, it has been reported in children and infants. ADPKD is caused by mutations of one of two genes that create certain proteins essential for the proper health of the kidneys and other parts of the body. Approximately 85 % have ADPKD1, the most aggressive form of the disease; those with ADPKD2 progress to kidney insufficiency about 20 years later.", "symptoms": "The specific symptoms and their severity can vary greatly from one person to another, even among members of the same family. Most affected individuals develop symptoms between the third and fifth decades of life. However, symptoms may occur during childhood or even in infancy. Some affected individuals never develop obvious symptoms (asymptomatic) and may be diagnosed with ADPKD incidentally in the eighth or ninth decade of life. ADPKD is a highly variable, multisystem disorder; it is important to note that affected individuals will not have all of the symptoms discussed below.", "causes": "ADPKD is caused by mutations of one of two genes, the ADPKD1 gene or the ADPKD2 gene. Mutations of the ADPKD1 gene account for approximately 85 percent of cases; the ADPKD2 gene accounts for approximately 15 percent of cases. These mutations are inherited as an autosomal dominant trait. In approximately 10 percent of cases, the mutation occurs randomly for no apparent reason (sporadically). Mutations of the ADPKD1 gene are generally associated with more severe disease, earlier age of onset and early age of onset of end stage renal disease.", "affected": "ADPKD affects males and females in equal numbers. Although a head-count has never been done, autopsy records show that between 1 in 400-1,000 people in the general population had ADPKD. There are approximately 6,000 new cases diagnosed each year in the United States. Approximately 6-10 percent of individuals receiving dialysis and renal transplant treatments in the United States have ADPKD. ADPKD is estimated to affect approximately 200,000 to 600,000 in the United States and another 12,000,000 people million worldwide, but only about one-fourth may know they have the disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of ADPKD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "ADPKD is diagnosed by a thorough clinical evaluation, a complete patient and family history, and imaging techniques, such as ultrasonography, computed tomography and magnetic resonance imaging. Such imaging studies are typically conducted for individuals with symptoms suggestive of ADPKD; in addition, they may be recommended as screening procedures for relatives of those diagnosed with ADPKD. Ultrasonography is a diagnostic study in which reflected echoes of high-frequency sound waves create an image of certain internal organs such as the kidneys. In some affected individuals, additional imaging studies, such as computerized tomography (CT) and magnetic resonance (MR) imaging, may also be recommended to help detect small cysts and determine the full extent of the disorder. During CT scanning, a computer and x-rays are used to create cross-sectional images of certain tissue structures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36383", "name_zh": "COL4-A1相关家族性血管性白质脑病", "Name": "Autosomal Dominant Porencephaly Type I", "disease_name": "Autosomal Dominant Porencephaly Type I", "synonyms": "", "disease-overview": "Autosomal dominant porencephaly type I is a rare genetic disorder in which fluid-filled cysts and cavities develop on the surface of the brain. Autosomal dominant porencephaly type I is caused by changes (mutations or pathogenic variants) in the COL4A1 gene. Affected individuals are predisposed to damage to small blood vessels, including the small vessels within the brain. The signs and symptoms of this disorder vary greatly from one individual to another but may include weakness or paralysis of one side of the body (hemiparesis or hemiplegia), seizures, varying degrees of cognitive impairment and migraines.", "symptoms": "The age of onset, specific symptoms, disease progression and severity of autosomal dominant porencephaly type I vary greatly from one individual to another, even among members of the same family. The term porencephaly refers to the formation of fluid-filled cysts or cavities on the surface of the brain. The size and exact locations of such cysts and cavities contribute to the clinical variability of this disorder. In some children, serious, life-threatening complications may occur in infancy; in others, only minor complications may occur and intelligence is unaffected. Still other individuals may not develop any symptoms (asymptomatic) until well into adulthood. Affected individuals should talk to their physicians and medical team about their specific medical history and associated symptoms.", "causes": "This genetic form of porencephaly is caused by variants in the COL4A1 gene and is inherited in an autosomal dominant pattern. Most individuals with autosomal dominant porencephaly type I have a parent with a pathogenic variant in the COL4A1 gene. In an unknown number of cases, the COL4A1 variant occurs randomly for no apparent reason (de novo).", "affected": "Autosomal dominant porencephaly type I affects males and females in equal numbers. The incidence of the disorder in the general population is unknown. Autosomal dominant porencephaly type I may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of autosomal dominant porencephaly type I. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of autosomal dominant porencephaly type I is suspected based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as advanced imaging techniques. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. A MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.", "therapies": "The treatment of autosomal dominant porencephaly type I is geared toward the specific symptoms that are present in each individual. For example, treatment may include physical therapy, speech therapy, anti-convulsant medications for seizures and a shunt to treat hydrocephalus by draining excess fluid from the skull. Individuals with high blood pressure (hypertension) must receive appropriate therapy because of the increased risk of stroke. Smoking, which also increases the risk of stroke, physical activities that can cause head trauma and the use of anti-clotting (anticoagulant) medications should also be avoided."}
{"OrphaCode": "ORPHA:34149", "name_zh": "常染色体显性遗传性肾小管间质性肾病", "Name": "Autosomal Dominant Tubulo-Interstitial Kidney Disease", "disease_name": "Autosomal Dominant Tubulo-Interstitial Kidney Disease", "synonyms": "uromodulin kidney disease (UKD)", "disease-overview": "Autosomal dominant tubulointerstitial kidney disease (ADTKD) describes a group of diseases that affect the tubules of the kidney. These conditions have the following characteristics:  They are inherited in an autosomal dominant manner; this means that a parent has a 50% chance of passing the disease on to their children. Often many family members are affected. (2) Chronic kidney disease develops. This initially is noticed as an elevated blood creatinine level. There are no symptoms from an elevated creatinine until it is very high, so often the elevated creatinine is found out on blood testing at a doctor’s office or in the hospital. Often, doctors are uncertain why the creatinine is elevated. As chronic kidney disease progresses, and the creatinine rises more, patients develop symptoms of fatigue, anemia, and feel cold all the time. Decreased appetite and fluid retention develop as the patient nears the need for dialysis. (3) Dialysis or kidney transplant is required sometime between the 4th and 7th decade of life. (4) Several types of the disease are associated with elevated uric acid concentrations in blood and gout, which sometimes starts in the teenage years. In ADTKD-UMOD and ADTKD- REN, some – but not all – family members are affected by gout.", "symptoms": "All individuals with ADTKD show slow loss of kidney function that may be present as early as childhood. Patients may first be diagnosed with this disease when they are found to have an elevated blood creatinine level (measure of kidney function) on a routine blood test at their doctor’s office. For many individuals, there may be no other symptoms. Doctors will check the urine, and will find that it does not contain blood and little or no protein. A kidney ultrasound is usually normal, and even a kidney biopsy may not point to a cause for this condition. Doctors are often confused because the patient has an elevated creatinine but the urine tests and the kidney ultrasound look normal. Thus, ADTKD is frequently not properly diagnosed. The kidney disease progresses slowly, and patients eventually develop symptoms of kidney failure (nausea, fluid retention) and require dialysis or kidney transplant. The age that kidney transplant or dialysis is required is highly variable, with some individuals requiring it as early as age 17, while other family members may not even require it at age 70. The reason for this variation is unclear.", "causes": "All types of autosomal dominant tubulointerstitial kidney disease follow autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. We all have two copies of each gene. Individuals with ADTKD have one normal copy and one abnormal copy. The parent has a 50/50 chance of passing the abnormal gene on to their child. Thus, children of an affected individual have a 50/50 chance of having the disease. The risk is the same for males and females. There are usually a number of family members affected, with at least a parent and child almost always affected.", "affected": "All types of autosomal dominant tubulointerstitial kidney disease are very uncommon.", "related-disorders": "Symptoms of the following disorders can be similar to those of autosomal dominant tubulointerstitial kidney disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Several lab tests are very helpful in pointing to this diagnosis. First, a blood test is done to measure the blood creatinine. In this condition, the blood creatinine is usually elevated, beginning in the second decade of life. A blood uric acid level is also tested and is almost always elevated in ADTKD-UMOD and ADTKD-REN (though not elevated early on in ADTKD-MUC1). A urine test (urinalysis) is done. The absence of blood or protein in the urine rules out other possible causes of kidney damage. Thus, most individuals with this condition have high blood creatinine levels, and a normal urinalysis. A kidney ultrasound is also frequently done and usually shows normal kidneys, though some individuals may be found to have cysts in the middle of the kidney. The real key to the diagnosis is that a parent and a child are usually both affected with kidney disease. Kidney biopsy may be performed, but the kidney biopsy cannot specifically diagnose ADTKD: genetic testing is required.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:641368", "name_zh": "", "Name": "Autosomal Recessive Hyper IgE Syndrome", "disease_name": "Autosomal Recessive Hyper IgE Syndrome", "synonyms": "AR-HIES", "disease-overview": "", "symptoms": "The symptoms of AR-HIES vary from case to case. AR-HIES affects the immune system as well as the central nervous system. Symptoms may be apparent at birth or during infancy or early childhood.", "causes": "AR-HIES is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "AR-HIES affects males and females in equal numbers. These disorders may often go unrecognized or misdiagnosed, making it difficult to determine their true frequency in the general population. Although AR-HIES is present during infancy, diagnosis may not be made until adolescence and, in some cases, adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of AR-HIES. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Due to the great variety of clinical features of AR-HIES early diagnosis can be challenging and genetic testing for DOCK8 deficiency may be essential.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:731", "name_zh": "常染色体隐性遗传多囊肾", "Name": "Autosomal recessive polycystic kidney disease", "disease_name": "Autosomal Recessive Polycystic Kidney Disease", "synonyms": "ARPKD", "disease-overview": "Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged kidneys during the newborn (neonatal) period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur. Some affected children may also have distinctive facial features and incomplete development of the lungs (pulmonary hypoplasia) causing breathing (respiratory) difficulties. The severity of the disorder and the specific symptoms that occur can vary greatly from one person to another. Some affected children eventually develop end-stage renal disease sometime during the first decade of life. In some patients, symptoms do not develop until adolescence or even adulthood. ARPKD is caused by changes (mutations) in the PKHD1 gene.", "symptoms": "The severity and progression of ARPKD can vary greatly from one person to another, even among members of the same family. In severe cases, ARPKD can cause life-threatening complications during infancy. In other cases, affected individuals may not develop symptoms until later during childhood or adolescence. Some children may need a kidney (renal) transplant early in childhood; others may not need a transplant until early adulthood, or not at all. In rare cases, individuals may not develop symptoms until young adulthood. Generally, individuals who develop ARPKD later in life have milder kidney disease, but more severe liver disease.", "causes": "ARPKD is caused by mutations of the PKHD1 gene and is inherited in an autosomal recessive pattern.", "affected": "ARPKD affects males and females in equal numbers. The incidence of ARPKD is estimated to occur in approximately 1 in 20,000 individuals in the general population. Approximately ~1/70 people carry a single mutation in the PKHD1 gene. Because some people may go undiagnosed, it is difficult to determine the true frequency of ARPKD in the general population. Although most patients are diagnosed in utero or at birth, mild cases may not become apparent until adolescence or adulthood. ARPKD can affect individuals of any ethnic group.", "related-disorders": "Symptoms of the following disorders can be similar to those of ARPKD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "ARPKD may be suspected before birth based upon clinical findings (e.g., palpable flank mass, underdeveloped lungs, oligohydramnios, and hypertension). Radiologic imaging including sonograms, ultrasound and magnetic resonance imaging (MRI) can be used to aid in obtaining a diagnosis of ARPKD. In addition to detecting kidney abnormalities, various radiologic imaging techniques can also be used to identify non-obstructive widening (dilatation) of the intraheptic ducts within the liver.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:782", "name_zh": "Axenfeld-Rieger综合征", "Name": "Axenfeld-Rieger syndrome", "disease_name": "Axenfeld-Rieger Syndrome", "synonyms": "Rieger syndrome", "disease-overview": "", "symptoms": "Ocular signs and symptoms", "causes": "ARS is caused by changes (mutations) in several different genes and follows an autosomal dominant pattern of inheritance.", "affected": "ARS is estimated to occur in about 1 in 1/50,000 newborns worldwide. It has been observed in patients from different ethnic origins including the Middle East as well as European, African, Asian, and South and North American populations. ARS seems to affect males and females in about equal numbers and is usually diagnosed in infants and children. Glaucoma, on the other hand, usually develops later in childhood or in adulthood.", "related-disorders": "The following disorders may share genetic or structural similarities with ARS.", "diagnosis": "ARS is commonly recognized by the presence of characteristic ocular features that may include non-ocular abnormalities. Depending on the clinical situation, genetic testing can help confirm a suspected diagnosis of ARS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:108", "name_zh": "巴贝虫病", "Name": "Babesiosis", "disease_name": "Babesiosis", "synonyms": "Piriplasmosis", "disease-overview": "Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. It is believed that the Babesia protozoa are usually carried and transmitted by ticks (vectors). Babesiosis occurs primarily in animals; however, in rare cases, babesiosis infection may occur in humans. Certain Babesia species are known to cause babesiosis infection in humans (e.g., Babesia microti), and the deer tick is a known vector. Human babesiosis infection may cause fever, chills, headache, nausea, vomiting, and/or muscle aches (myalgia). Symptoms may be mild in otherwise healthy people; in addition, some infected individuals may exhibit no symptoms (asymptomatic). However, a severe form of babesiosis, which may be life-threatening if untreated, may occur in individuals who have had their spleens removed (splenectomized) or who have an impaired immune system. A different form of babesiosis has been reported in Europe that is associated with a more severe expression of symptoms.", "symptoms": "Most people with babesiosis do not experience any symptoms (asymptomatic) or experience only mild symptoms. However, in some cases, babesiosis can cause severe complications. These severe cases usually only occur in individuals greater than 50 years of age, individuals who have impaired immune systems (immunocompromised), or individuals who have had their spleen removed (splenectomized).", "causes": "Babesiosis is caused by single-celled microorganisms (protozoa) from the genus Babesia. These microorganisms are parasites that invade red blood cells (erythrocytes).", "affected": "Babesiosis is a rare infectious disease that affects males and females in equal numbers. It can affect individuals of any age although it is more likely to occur in people over 50 years of age, people who have weakened immune systems, and people who have had their spleens removed.", "related-disorders": "Symptoms of the following disorders can be similar to those of babesiosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Malaria is an infectious disease that is caused by single-celled microorganisms (protozoa) of the Plasmodium genus and spread by the bite of an infected mosquito (Anopheles). Major symptoms may include fever, chills, listlessness, loss of appetite, headaches, muscle aches, and other flu-like symptoms. Additional symptoms may include muscle spasms and rigidity, profuse sweating, cold sores, abnormally fast heartbeat, and difficulty breathing. The severity of the symptoms varies greatly from case to case. Low levels of circulating red blood cells (anemia), weight loss, and a mild yellowish discoloration of the skin, mucous membranes, and whites of the eyes (jaundice) may also occur. Four different species of the Plasmodium genus may cause malaria. (For more information on this disorder, choose Malaria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:544488", "name_zh": "全身发育迟缓-脱发-大头畸形-面部畸形-结构性脑异常综合症", "Name": "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome", "disease_name": "Bachmann-Bupp Syndrome", "synonyms": "ODC1 gain-of-function-related neurodevelopmental disorder", "disease-overview": "Bachmann-Bupp syndrome (BABS) is a rare genetic disorder caused by gain-of-function changes (pathogenic variants or mutations) in the ODC1 gene. Affected individuals have a distinctive type of hair loss (alopecia), global developmental delay, low muscle tone (hypotonia), nonspecific abnormal physical characteristics (dysmorphic features) and behavioral abnormalities. There is no cure for the disorder, but research is underway to better understand and treat this disease. Current treatment is aimed at the specific symptoms present in each individual.", "symptoms": "There are 9 patients reported in the medical literature with BABS. From their histories, pathogenic variants in the ODC1 gene are thought to be responsible for the following:", "causes": "BABS is caused by changes (pathogenic variants or mutations) in the ornithine decarboxylase (ODC1) gene that are located at one end of the gene, the C terminus. Genes provide instructions for creating proteins which play a critical role in many bodily functions. Pathogenic variants in the ODC1 gene that cause BABS result in an elevated level of ODC protein followed by an increased conversion of ornithine to putrescine and increased accumulation of putrescine in the cells. These are called gain-of-function pathogenic variants.", "affected": "BABS is a rare disorder that was first reported in the medical literature in 2018. As of November 2022, fewer than 30 affected individuals have been identified with the disorder worldwide. Rare diseases often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of BABS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of BABS is based upon identification of characteristic symptoms and molecular genetic testing that reveals a pathogenic variant in the ODC1 gene. Consensus clinical diagnostic criteria have not been established.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1223", "name_zh": "小袋纤毛虫病", "Name": "Balantidiasis", "disease_name": "Balantidiasis", "synonyms": "Balantidiosis", "disease-overview": "Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects humans. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery.", "symptoms": "Most people with Balantidiasis are asymptomatic or present mild symptoms.  Some individuals may become acutely ill with abnormally high temperatures, nausea, vomiting, abdominal pain, and bloody diarrhea.  Such conditions may result in the excessive loss of water from the body (dehydration) and extreme exhaustion (prostration), especially if B. coli attacks the intestinal lining causing inflammation and possibly crater-like areas of damage (ulceration).  In very severe cases, the ulcers may be deep enough to puncture the intestinal wall (perforation) resulting in acute inflammation of the peritoneum, the membrane that lines the abdomen (peritonitis). Occasionally, the ulcer may diminish lung function.", "causes": "Balantidiasis is a rare infectious disease caused by the single celled (protozoan) parasite Balantidium coli.  This parasite may be passed directly to humans by contact with pig feces or indirectly by drinking contaminated water.  Poor nutrition, a compromised immune system, or other illnesses may make a person vulnerable to more severe symptoms of this disease.", "affected": "Balantidiasis is a rare infection that affects males and females in equal numbers.  It typically occurs in tropical regions such as Brazil, New Guinea, and southern Iran.", "related-disorders": "Symptoms of the following disorders can be similar to those of Balantidiasis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ulcerative Colitis is an acute inflammatory bowel disease characterized by diarrhea and blood in the stools because of multiple, irregular ulcerations of the bowel.  The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue.  There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal pain, cramping, and the urgent need to have a bowel movement (tenesmus).  Weight loss and a decrease in appetite are also associated with Ulcerative Colitis.  (For more information on this disorder, choose Ulcerative Colitis as your search term in the Rare Disease Database.)", "therapies": "Balantidiasis can be diagnosed by laboratory testing of the stool. Immature B. coli parasites (trophozoites) are usually recoverable from the stool. A more complex and more invasive diagnostic method involves scraping the ulcer and examining the tissue for trophozoites."}
{"OrphaCode": "ORPHA:228165", "name_zh": "同心圆性硬化", "Name": "Balo Disease", "disease_name": "Balo Disease", "synonyms": "Concentric Sclerosis", "disease-overview": "Balo Disease is a rare and progressive variant of multiple sclerosis. It usually first appears in adulthood, but childhood cases have also been reported. While multiple sclerosis typically is a disease that waxes and wanes, Balo Disease is different in that it tends to be rapidly progressive. Symptoms may include headache, seizures, gradual paralysis, involuntary muscle spasms, and cognitive loss. The alternative names for Balo Disease, concentric sclerosis or Balo concentric sclerosis, refer to the fact that Balo Disease is characterized by bands of intact myelin (the sheath of fatty substances surrounding nerve fibers), alternating with rings of loss of myelin (demyelination), in various parts of the brain and brain stem. The symptoms of Balo Disease vary, according to the areas of the brain that are affected. Symptoms may progress rapidly over several weeks or more slowly over two to three years.", "symptoms": "Most cases are characterized by the gradual onset of symptoms that might be found in the more common type of MS, including muscle spasms and paralysis. Other neurological symptoms develop depending on the areas of the brain that are affected and may include intellectual impairment and/or physiological abnormalities. However, in its most serious form, Balo Disease may also suggest the presence of an infectious disease, starting with a high fever and painful headaches.", "causes": "The cause of MS and its variants remains unknown. However, some studies indicate that autoimmune factors may play a role in the development of Balo Disease. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons.", "affected": "Balo Disease is a rare disorder that affects males and females in equal numbers. More cases have been reported from China and the Philippines than elsewhere.", "related-disorders": "Symptoms of the following disorders can be similar to those of Balo Disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Adrenoleukodystrophy is a rare inherited metabolic disorder characterized by the loss of the fatty covering (myelin sheath) around nerve fibers in the brain (cerebral demyelination) and the progressive degeneration of the adrenal gland. The symptoms of this disorder may include generalized muscle weakness (hypotonia), exaggerated reflex responses (hyperreflexia), impaired ability to coordinate movement (ataxia), spastic partial paralysis, and/or tingling or burning sensations in the arms or legs. (For more information on this disorder, choose Adrenoleukodystrophy as your search term in the Rare Disease Database.)", "therapies": "Treatment is symptomatic and supportive. Corticosteroids are usually useful in decreasing severity of acute presentations through their anti-inflammatory actions. Treatment to relieve symptoms, such as spasticity, weakness, pain, or ataxia, includes pharmacologic and rehabilitative modalities."}
{"OrphaCode": "ORPHA:109", "name_zh": "Bannayan-Riley-Ruvalcaba综合征", "Name": "Bannayan-Riley-Ruvalcaba syndrome", "disease_name": "Bannayan-Riley-Ruvalcaba Syndrome", "synonyms": "BRRS", "disease-overview": "", "symptoms": "Individuals with BRRS have clinical findings that vary from one person to another. They can be separated into different categories: skin, facial differences, skeletal abnormalities, thyroid gland tumors, gastrointestinal tract, central nervous system, ocular abnormalities, muscular system and other findings. Children with BRRS also tend to be bigger and longer at birth and can have blood vessel changes (hemangiomas) which are seen as raised red birthmarks. Growth slows down with age and patients tend to have normal size and height as adults. This is not a complete list of possible findings. Some are found in case reports and are added to the list of possible findings.", "causes": "Approximately 60% of patients with BRRS have an inborn change (mutation) in the PTEN tumor suppressor gene in all cells of their bodies. A tumor suppressor is a gene that slows down cell division, repairs damage to the DNA of cells, and tells cells when to die, a normal process called apoptosis. Mutations in a tumor suppressor gene often lead to overgrowth and/or cancer. The PTEN gene results in the production of an enzyme called phosphatase and tensin homolog (from which the name ‘PTEN’ is derived). PTEN is important for stopping cell growth and starting apoptosis. Researchers believe that the PTEN gene plays a broad role in the development of human cancers.", "affected": "BRRS was previously reported as three different conditions: Riley-Smith, Bannayan-Zonana and Ruvalcaba-Myhre-Smith syndromes. To facilitate diagnosis and medical care, BRRS is considered to be a component of PTEN hamartoma tumor syndrome (PHTS) for all patients having a germline PTEN mutation. Males and females are affected equally and PHTS is found in all racial and ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of BRRS. Comparisons may be useful for purposes of formulating a genetic differential diagnosis.", "diagnosis": "BRRS may be suspected based upon identification of characteristic physical features (e.g., macrocephaly, penile lentigines, hamartomatous polyposis, characteristic facial abnormalities, skeletal malformations, etc.). The diagnosis may be confirmed by a thorough clinical evaluation and detailed patient and family histories. The diagnosis can also be confirmed when a germline mutation in the PTEN gene is identified.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2237", "name_zh": "甲状旁腺功能减退-感音神经性耳聋-肾功能障碍", "Name": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome", "disease_name": "Barakat Syndrome", "synonyms": "HDR syndrome", "disease-overview": "First described by Barakat, et al in 1977, the Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by the triad of hypoparathyroidism (decreased function of the parathyroid glands which are small endocrine glands in the neck whose main function is to maintain the body calcium level), sensorineural deafness and renal disease.", "symptoms": "Since newborn hearing screening and prenatal ultrasonography are now performed routinely, deafness and congenital anomalies of the kidney and urinary tract have become the more common modes of presentation. Patients may also present with symptoms associated with low blood calcium (hypocalcemia) caused by malfunction of the parathyroid glands such as muscle weakness, tetany and convulsions, or signs of kidney disease such as proteinuria, hematuria and chronic kidney disease. Deafness may be a presenting symptom or may be found on a routine hearing test at any age.", "causes": "Barakat syndrome is inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a changed (mutated) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "The exact prevalence is unknown, but the disease is considered to be rare. So far, about 200 patients have been reported in the literature worldwide. Clinical awareness of this syndrome will certainly increase the number of patients diagnosed and reported. There is equal prevalence across ethnic groups, genders and ages of diagnosis (from newborns to age 60 years).", "related-disorders": "Differential diagnoses of the syndrome include familial isolated hypoparathyroidism and chromosome 22q11.2 deletion syndrome.", "diagnosis": "The diagnosis of this syndrome is based on the clinical findings of hypoparathyroidism, deafness and renal disease. The following studies should be performed: parathormone (PTH) and calcium levels, hearing test, urinalysis, imaging studies of the kidneys and possibly a kidney biopsy in the presence of nephrotic syndrome, hematuria or proteinuria. Molecular genetic testing for mutations in the GATA3 gene may be performed in specialized genetic labs. The syndrome should be considered in infants who have been prenatally diagnosed with a chromosome 10p abnormality or congenital anomalies of the kidney and urinary tract. Siblings and family members should be studied for hypoparathyroidism, deafness and renal disease and offered GATA3 gene testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:110", "name_zh": "Bardet-Biedl综合征", "Name": "Bardet-Biedl syndrome", "disease_name": "Bardet-Biedl Syndrome", "synonyms": "BBS", "disease-overview": "", "symptoms": "The cardinal features of BBS are truncal obesity, intellectual impairment, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. Each feature is discussed in detail below. The term ‘truncal obesity’ refers to a condition where fat is disproportionately distributed onto the abdomen and chest rather than the arms and legs. Individuals can be described as having an apple-shape body type. Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. Diabetes mellitus (specifically, type II diabetes, non-insulin dependent) has been estimated to affect up to 45% of patients with BBS. Weight management problems may further complicate problems with the heart and blood vessels seen in patients with BBS. The heart functions as a pump for the blood, moving the blood through the vessels that bring it throughout the body. The heart relies on valves that keep the flow moving in the forward direction. With age, stiffening of the heart valves is completely normal. The stiffening is due to calcium laying down on the valves, and this process if described by the word stenosis. Patients with BBS may experience stenosis of their heart valves prematurely. They may also have defects of the heart’s muscular walls. The heart muscle is designed such that every motion is smoothly orchestrated. Defects in the heart muscle predispose people with BBS to heart beat abnormalities, referred to as arrhythmias. Most patients with BBS will experience the loss of a particular population of cells in the eye, specifically in the retina. The retina is part of the eye involved in detecting and decoding incoming images. Incoming light is focused onto the retina at the back of the eye. The retina is composed of cells called rods and cones. They translate incoming light into nerve impulses the brain can use. This gradual loss of the rod and cone cells on the retina is described as dystrophy. Symptoms associated with cone-rod dystrophy may not become apparent until 7 or 8 years of age when children begin to complain of an inability to see in dimly lit environments, such as a sidewalk lit only by streetlights. This night blindness may progress to variable degrees. In most people, the vision becomes progressively weaker through the first and second decades of life. Affected individuals often first lose peripheral vision, and see only what is directly in front of their focus point. They see in what is termed ‘tunnel vision’. Many affected individuals also eventually lose central vision and become legally blind, often by their mid-teens. In some people, the degeneration of the retina may follow a characteristic course, referred to as retinitis pigmentosa, (RP). RP begins with night blindness, followed by a loss of the ability to discriminate colors from one another, and finally to a progressive tunnel vision. (For more information, choose Retinitis Pigmentosa as your search term in the Rare Disease Database). Additional effects on the eye characteristic to individuals with BBS include: lazy eye (strabismus), clouding of the lens of the eyes (cataracts), and an increased pressure within the eyes that can result in damage to the optic nerve conducting signals to the brain (glaucoma).", "causes": "BBS can be caused by changes (mutations) in more than 20 different genes. It is usually inherited as an autosomal recessive condition. Below you will find a more technical description of the genetic changes that underlie BBS and known clinical associations.", "affected": "BBS affects males and females in equal numbers. The prevalence is estimated to be 1 in 100,000 in the non-related (non-consanguineous) populations of Northern Europe and America. In Sweden, the prevalence is estimated to be 1 in 160,000. The disorder occurs with greater frequency in the Bedouin population of Kuwait (1 in 13,500) and in certain populations of Newfoundland (1 in 17,500). A specific mutation (K243lfsX15) in the BBS10 gene is particularly common in South Africa.", "related-disorders": "The conditions below are ones which may clinically resemble BBS. The list below can be useful in establishing a differential diagnosis.", "diagnosis": "BBS is generally diagnosed based upon identification of characteristic findings described above (eg: visual problems due to retinal dystrophy, truncal obesity, post-axial polydactyly). As diagnosis is based on clinical findings and BBS is associated with variable expression of the classical features, some patients may not have a clear diagnosis for many years. Difficulties with diagnosis arise when a child demonstrates learning disabilities and problems with weight management but who was not born with any congenital abnormality. For these children, diagnosis may remain uncertain until they begin to manifest vision loss symptoms. Diagnosis of retinal disease may require consultation with an ophthalmologist and an examination including an electroretinogram (ERG). The ERG is a procedure that measures the electrical response of the retina to light stimulation. Genetic testing may help confirm the diagnosis for some patients (e.g., individuals with certain BBS1 and BBS10 gene mutations). However, such testing may not be covered by insurance and available only through research laboratories with a special interest in BBS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:111", "name_zh": "Barth综合征", "Name": "Barth syndrome", "disease_name": "Barth Syndrome", "synonyms": "X linked endocardial fibroelastosis (EFE)", "disease-overview": "", "symptoms": "Barth syndrome is mainly found in early infancy or childhood. However, in some patients, symptoms appear in adulthood. Symptoms can present differently and can vary from one person to another.", "causes": "Barth syndrome is caused by mutations in the TAZ gene. The TAZ gene produces a protein called tafazzin. Tafazzin helps in altering a fat called cardiolipin. Cardiolipin is present in the inner membrane of structures called mitochondria. Mitochondria are structures in the cell which helps in making energy. Loss of tafazzin protein mainly affects energy requiring organs like heart and skeletal muscles. However, more research is required to understand how the loss of tafazzin leads to cardiomyopathy and neutropenia.", "affected": "Barth syndrome affects all ethnic groups. The incidence of Barth syndrome is estimated to be 1 in 300,000 to 1 in 400,00 in United States. As of 2013, there have been 151 patients reported in the medical literature.", "related-disorders": "Researchers have seen that mutations in the TAZ  gene causes a wide range of symptoms. There have been patients reported with several heart conditions like dilated cardiomyopathy, noncompaction of left ventricle and endocardial fibroelastosis but without other Barth syndrome symptoms like low white blood count, growth delay and increased biochemical levels of 3-methyglutaconic acid and 2-ethyl hydracrylic acid.", "diagnosis": "Barth syndrome is usually diagnosed during infancy or early childhood, but has been diagnosed later in some patients. Diagnosis is based upon clinical evaluation, identification of characteristic physical findings, a complete patient and family history, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:50839", "name_zh": "猫抓病", "Name": "Bartonellosis", "disease_name": "Bartonellosis", "synonyms": "", "disease-overview": "", "symptoms": "Diseases in humans that have been identified to be caused by one of the Bartonella spp include cat scratch disease, Carrion’s disease, and trench fever.", "causes": "Bartonella bacteria invade red blood cells (erythrocytes) and the lining of the blood vessels (endothelial cells), where the organism proliferates. Inside the erythrocytes, it is protected from the host’s primary and secondary immune response, thus explaining bacterial persistence that can occur in some cases.", "affected": "Cat scratch disease caused by B. henselae infection occurs in approximately 1 per 10,000 persons. Cat-scratch disease has been shown in some studies to occur more frequently in males than females with a ratio of 3:2. However, other studies have shown equal rates between males and females. One hypothesis to explain a greater incidence among males than females is the tendency toward rougher play with cats and consequently an increased risk of bites and scratches. A database analysis in 2016 showed 33% of patients with CSD were 14 years of age or younger.", "related-disorders": "Certain features of the following disorders may be similar to those of bartonellosis:", "diagnosis": "Most cases of CSD can be diagnosed by the individual’s symptoms and history, such as the development of papules or pustules after vector exposure or a cat scratch or bite. Development of swollen lymph nodes and fever further reinforce a clinical diagnosis. Blood (serological) testing is available to confirm the diagnosis. PCR and culture tests may also be used in certain cases.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:112", "name_zh": "巴特综合征", "Name": "Bartter syndrome", "disease_name": "Bartter Syndrome", "synonyms": "salt-losing tubulopathy with secondary hyperaldosteronism", "disease-overview": "", "symptoms": "The age of onset, severity and specific symptoms associated with Bartter syndrome can vary greatly from one person to another, even among individuals who have the same subtype. Some individuals may have mild cases; others may experience severe, potentially life-threatening complications, at birth.", "causes": "Bartter syndromes are caused by recessive mutations in the SLC12A1 gene (type 1), the KCNJ1 gene (type 2), the CLCNKB gene (type 3), the BSND gene (type 4A), or both the CLCNKA and CLCNKB genes (type 4B). Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Bartter syndrome is inherited in an autosomal recessive manner, except for type 5, which is inherited in an X-linked recessive matter.", "affected": "The Bartter syndromes affect males and females in equal numbers. They are estimated to affect approximately one in 100,000 people in the general population. However, many cases go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. Bartter syndromes can occur in individuals of any race or ethnic background.", "related-disorders": "Symptoms of the following disorders can be similar to those of the Bartter syndromes. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of one of the Bartter syndromes is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:116", "name_zh": "Beckwith-Wiedemann综合征", "Name": "Beckwith-Wiedemann syndrome", "disease_name": "Beckwith-Wiedemann Syndrome", "synonyms": "Beckwith-Syndrome", "disease-overview": "Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15.5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person. Associated features include a large tongue (macroglossia),  abdominal wall abnormalities (omphalocele, umbilical hernia or diastasis recti), abnormal enlargement of one side or structure of the body (lateralized overgrowth) resulting in unequal (asymmetric) growth, an increased risk of developing certain childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor) and low blood sugar levels in the first few days of life (neonatal hypoglycemia) or beyond leading to persistent low blood sugars (hyperinsulinism). BWS may also be associated with above-average birth weight (large for gestational age), increased growth after birth (macrosomia), enlargement of certain internal organs (organomegaly), distinctive grooves in the ear lobes (ear creases and ear pits), and a characteristic facial appearance.", "symptoms": "The characteristic features of BWS vary greatly from person to person, which can make clinical diagnosis based on physical exam findings and molecular diagnosis based on genetic testing challenging. Sometimes, the clinical and molecular diagnoses do not match because clinically the patients may not have many obvious physical features of BWS even if they have changes in the BWS critical region based on genetic testing. Some individuals may appear mildly affected while others appear more significantly affected. Affected individuals may not have all the symptoms listed. The range of clinical features due to changes on chromosome 11p15.5 has been redefined as the Beckwith-Wiedemann spectrum.", "causes": "Genetics is the study of genes whereas epigenetics is the study of how those genes are turned on or off (gene expression). BWS results from various abnormalities affecting the proper expression of genes that control growth within a specific region of chromosome 11(11p15.5). This region is referred to as the BWS critical region.", "affected": "BWS affects males and females in equal numbers. It is estimated to occur in 1 in 10,340 individuals in the general population. Because people who are mildly affected may go undiagnosed, it is difficult to determine the true frequency of BWS in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of BWS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Simpson-Golabi-Behmel syndrome is an X-linked recessive genetic disorder due to mutations in the GPC3 or GPC4 genes. Simpson-Golabi-Behmel syndrome is characterized by overgrowth before and after birth (macrosomia); a particular facial appearance including widely spaced eyes (hypertelorism), coarse facial features, large mouth (macrostomia), large head (macrocephaly), large tongue (macroglossia), and mild to severe intellectual disability. (For more information on this disorder, choose Simpson dysmorphia as your search term in the Rare Disease Database.)", "therapies": NaN}
{"OrphaCode": "ORPHA:117", "name_zh": "白塞病", "Name": "Behçet Syndrome", "disease_name": "Behçet Syndrome", "synonyms": "Adamantiades-Behcet's syndrome", "disease-overview": "Behçet’s syndrome is a rare multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions and abnormalities affecting the eyes. Symptoms include mucous membrane lesions of the mouth (canker sores) and genitals (ulcers) that tend to disappear and recur spontaneously. Inflammation of the eyes (anterior uveitis, posterior uveitis, or panuveitis) also affects individuals with Behçet’s syndrome. Additional systems of the body may also be affected including the joints, blood vessels, central nervous system and/or digestive tract. The exact cause of Behçet’s syndrome is unknown.", "symptoms": "The earliest symptom of Behçet’s syndrome is usually painful canker sores on the mucous membranes that line the mouth (aphthous stomatitis). The sores are usually round or oval with reddish (erythematous) borders that may occur anywhere within the mouth. They may be shallow or deep and may appear as a single lesion or a cluster of multiple lesions. The sores typically heal within a few days, up to a week or more, without scarring, but frequently recur. They may precede other symptoms of Behçet’s syndrome by several years. Sometimes similar sores may appear on the genitals, specifically the scrotum and shaft of the penis in males and the vulva in females. The sores are also round and painful but may be larger and deeper than those affecting the mouth. These sores also recur, but unlike oral lesions, may tend to scar.", "causes": "The exact cause of Behçet’s syndrome is not known. Studies suggest that some people may have a genetic predisposition to the condition. A genetic predisposition means that a person may carry a gene for a disease, but it may not be expressed unless something in the environment triggers the disease. Researchers have demonstrated that certain individuals with Behçet’s syndrome, especially those of Middle Eastern and Asian descent, have an increased frequency of certain human leukocyte antigens (HLAs) in the blood. Individuals with Behçet’s syndrome are more likely to have HLA-B51 than the general population. The possible role of HLA-B51 in predisposing individuals to Behçet’s syndrome and its overall association with the disorder is unknown. Other genetic markers and their role in the development of Behçet’s disease are being studied. Viral or bacterial infections have also been suggested as a possible cause for the disorder. Still another theory is that the disease is an auto-inflammatory disorder in which the body loses the ability to appropriately regulate and control inflammation.", "affected": "Behçet’s syndrome is a rare disorder in the United States and Western Europe. It occurs most frequently in the Middle East and Asia, along ancient trading routes between the Mediterranean basin and eastern Asia, known as the Silk Road. Turkey has the highest prevalence rate (80-370 cases per 100,000); Japan, Korea, China, Iran, and Saudi Arabia also have high prevalence rates. The disorder is the leading cause of blindness in Japan. The age of onset is typically between 30 and 40 years.", "related-disorders": "Symptoms of the following disorders can be similar to those of Behçet’s syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Reactive arthritis, previously known as Reiter’s syndrome, is a rare infectious disorder characterized by arthritis, inflammation of the urinary tract (non-gonococcal urethritis), and inflammation of the membranes that line the eyes (conjunctivitis). Lesions may also appear on the skin and mucous membranes. The symptoms may not all appear at once. There may be spontaneous remissions and recurrences. Symptoms may include pus in the urine, swollen painful joints and ulcers in the mouth. Occasionally the iris of the eyes may become inflamed (iritis). This disorder can be transmitted through sexual contact. (For more information on this disorder, choose reactive arthritis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2810", "name_zh": "欧洲非罕见：特发性面神经麻痹", "Name": "Bell Palsy", "disease_name": "Bell Palsy", "synonyms": "Antoni's Palsy", "disease-overview": "Bell’s palsy is a non-progressive neurological disorder of the facial nerve (7th cranial nerve). This disorder is characterized by the sudden onset of facial paralysis that may be preceded by a slight fever, pain behind the ear on the affected side and weakness on one side of the face. Paralysis results from decreased blood supply (ischemia) and/or compression of the 7th cranial nerve. The exact cause of Bell’s palsy is not known. Viral (e.g., herpes zoster virus) and immune disorders are frequently suggested as a cause for this disorder. There may also be an inherited tendency toward developing Bell’s palsy.", "symptoms": "The early symptoms of Bell’s palsy may include a slight fever, pain behind the ear and weakness on one side of the face. The symptoms may begin suddenly and progress rapidly over several hours and sometimes follow a period of stress or reduced immunity. The whole side of the face is affected.", "causes": "The exact cause of Bell’s palsy is not known. Viral and immune disorders are often suggested as a cause for this disorder. There may also be an inherited tendency toward developing Bell’s palsy. Symptoms develop due to deficiency of blood supply and pressure on the 7th cranial nerve as a result of nerve swelling.", "affected": "Bell’s palsy affects males and females in equal numbers. It is estimated that 25-35 per 100,000 people in the United States are affected with Bell’s palsy. Approximately 40,000 individuals are diagnosed with Bell’s palsy in the United States each year.", "related-disorders": "Symptoms of the following disorders can be similar to those of Bell’s palsy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ramsay Hunt syndrome is a rare neurological disorder that typically affects adults over 60 years of age. The disorder is characterized by facial weakness or paralysis of the facial nerve and a rash affecting the ear or mouth. Symptoms are usually on one side of the face. Ringing in the ears (tinnitus) and hearing loss may also be present. Ramsay Hunt syndrome is caused by the varicella zoster virus (VZV), the same virus that causes chickenpox in children and shingles (herpes zoster) in adults. In Ramsay Hunt syndrome, previously inactive (dormant) varicella-zoster virus is reactivated and spreads to affect the facial nerve.  (For more information in this disorder, choose Ramsay-Hunt syndrome as your search term on the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93964", "name_zh": "Meige综合征", "Name": "Benign Essential Blepharospasm", "disease_name": "Benign Essential Blepharospasm", "synonyms": "BEB", "disease-overview": "", "symptoms": "In the early stages, benign essential blepharospasm is characterized by frequent or forced blinking and eye irritation that is often worsened by certain stimuli including bright lights, fatigue, emotional tension and environmental factors such as wind or air pollution. BEB virtually always affects both eyes (bilateral).", "causes": "The cause of benign essential blepharospasm is unknown. Researchers speculate that the cause of BEB may be multifactorial (e.g., caused by the interaction of certain genetic and environmental factors).", "affected": "Benign essential blepharospasm affects women more often than men. The average age of onset is 56.", "related-disorders": "Symptoms of the following disorders can be similar to those of benign essential blepharospasm. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Meige syndrome (cranial dystonia), is a rare neurological disorder that is characterized by spasms of all the muscles of the face, including the tongue and jaw. People in late middle age are most often affected. Just as in blepharospasm, involuntary eyelid closure may result from spasms of the muscles around the eyes. (For more information on this disorder, choose Meige syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:313855", "name_zh": "FGFR2基因相关性弯曲骨发育不良综合征", "Name": "FGFR2-related bent bone dysplasia", "disease_name": "Bent Bone Dysplasia Syndrome", "synonyms": "FGFR2-related bent bone dysplasia", "disease-overview": "", "symptoms": "Physical exams and imaging studies of infants with BBDS may identify signs and symptoms in many body systems:", "causes": "Bent bone dysplasia syndrome (BBDS) is caused by a variant in the FGFR2 gene. These disease-causing variants occur randomly and spontaneously and are not inherited from either parent. Variants disrupt the structure and transportation of the FGFR2 protein produced by this gene leading to low concentrations and function of the protein on the surface of cells and abnormal signaling in cells mostly associated with bone formation. These cells do not multiply correctly and do not properly form the skeleton. The bones of affected infants then have inadequate and abnormal growth.", "affected": "The relatively recent identification of the disorder and low number of patients means that the population affected by this condition cannot be accurately determined at this time.", "related-disorders": "Babies with BBDS have premature fusion of cranial sutures (craniosynostosis). Craniosynostosis is found in more than 150 genetic disorders. All the FGFR-related craniosynostosis conditions have autosomal dominant inheritance.", "diagnosis": "A diagnosis of BBDS may be suspected based on a thorough medical and family history, physical exams and imaging studies. Genetic testing for variants in the FGFR2 gene is necessary to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:274", "name_zh": "巨大血小板综合征", "Name": "Bernard-Soulier syndrome", "disease_name": "Bernard-Soulier Syndrome", "synonyms": "BSS", "disease-overview": "Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily. Most cases of Bernard-Soulier syndrome are inherited in an autosomal recessive genetic pattern.", "symptoms": "The symptoms of Bernard-Soulier syndrome, which are typically apparent at birth and continue throughout life, may include the tendency to bleed excessively from cuts and other injuries, nosebleeds (epistaxis), and/or an unusually heavy menstrual flow in women. Some babies and children with BSS have no symptoms and the disorder does not present until adult life. People with this disease also bruise easily and the bruises tend to linger. Bleeding from very small blood vessels under the skin (subcutaneous) may cause small or widespread areas of small red or purple colored spots (purpura or petechiae).", "causes": "BSS is a genetic disorder that affects the ability of the platelets in the circulating blood to bind with a damaged blood vessel and hence to clot blood. These platelets are missing an essential protein called the glycoprotein Ib-IX-V complex (GPIb). The Gp1b complex is composed of 4 protein subunits that bind closely together (GP1b-alpha, GP1b-beta, GP9 and GP5). BSS is caused by mutations in one of the Gp1b complex genes- so far mutations have been found in BP1b-alpha, Gp1b-beta and GP9 but no mutations have been found in GP5. Normally the GP1b complex sticks out of the platelet’s surface and binds with another protein found in the circulating blood called von Willebrand factor. If one of these proteins is missing or abnormal, they cannot bind correctly to begin the clotting process and excessive bleeding results.", "affected": "Bernard-Soulier syndrome is a rare bleeding disorder that affects males and females in equal numbers. Recent estimates suggest that Bernard Soulier syndrome affects 1 in a million people. More than 200 cases have been reported worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of Bernard-Soulier syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "May-Hegglin anomaly is a rare inherited disorder of blood platelets and certain white blood cells characterized by abnormally large platelets. Some people with this disorder have symptoms from birth while others are without symptoms for life. Symptoms may include nosebleeds, purple colored spots on the skin (purpura), excessive bleeding from the mouth during dental work, and/or headaches. Some people with May-Hegglin anomaly may experience muscular weakness on one side of the body because of abnormal bleeding inside the brain (intracranial hemorrhage). (For more information on this disorder, choose May Hegglin as your search term in the Rare Disease Database.) May Hegglin does not usually cause bleeding in newborn babies unlike BSS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:133", "name_zh": "慢性铍病", "Name": "Chronic beryllium disease", "disease_name": "Berylliosis", "synonyms": "Acute Beryllium Disease", "disease-overview": "Berylliosis is a form of metal poisoning caused by inhalation of beryllium dusts, vapors, or its compounds or implantation of the substance in the skin. The toxic effects of beryllium most commonly occur due to occupational exposure. Beryllium is a metallic element used in many industries, including electronics, high-technology ceramics, metals extraction, and dental alloy preparation.", "symptoms": "Acute berylliosis is a rare condition that develops suddenly due to exposure to beryllium.  The condition is primarily characterized by severe inflammation of the lungs (pneumonitis).  Associated symptoms typically include an abrupt onset of coughing, and difficulties breathing (dyspnea).  Some affected individuals may also develop a sore throat (pharyngitis); inflammation of the mucous membranes of the nose (rhinitis) and associated nasal discharge; and inflammation of the windpipe and air passages of the lungs (tracheobronchitis).  In addition, in some cases, other areas of the body may be affected, such as the skin or eyes.  Although most individuals with acute berylliosis have a complete recovery with no residual effects, potentially life-threatening complications may result without prompt, appropriate treatment.  The severity of the condition may depend upon the duration of beryllium exposure, the concentration of the irritant, and/or other factors.", "causes": "Berylliosis is caused by inhalation of beryllium dusts, fumes, or its compounds or entrance of the substance through the skin.  Beryllium is a natural metallic chemical element that forms strong, lightweight alloys with various metals.  (Alloys are formed by the fusion of two or more metals.)  Due to such properties, beryllium has numerous industrial uses including aerospace, electronic, and nuclear components; high-technology ceramics; and dental alloys.  In addition, prior to the 1950s, beryllium was often used in the manufacture of fluorescent lights.  The risk of beryllium exposure occurs in any setting in which beryllium or its compounds may become airborne in the form of vapors, fumes, small particles, or dust.", "affected": "The toxic effects of beryllium most commonly affect individuals who work in occupational settings in which beryllium or its components may become airborne.  As discussed above, beryllium is used in numerous industries, including electronics, high-technology ceramics, dental alloy preparation, and metals extraction.", "related-disorders": "Symptoms of the following disorders may be similar to those of berylliosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Sarcoidosis is a multisystem disorder characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of granular white blood cells in certain organs of the body.  The granulomas that are formed are thought to affect the normal structure of and, potentially, the normal functioning of the affected organs, causing symptoms associated with the particular body systems in question.  In individuals with sarcoidosis, such granuloma formation most commonly affects the lungs.  However, in many cases, the upper respiratory system, lymph nodes, skin, or eyes may also be involved.  In addition, in some individuals, other organs may be affected, including the liver, bone marrow, spleen, musculoskeletal system, heart, salivary glands, or nervous system (i.e., central or peripheral nervous system).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1243", "name_zh": "Best卵黄样黄斑营养不良", "Name": "Best vitelliform macular dystrophy", "disease_name": "Best Vitelliform Macular Dystrophy", "synonyms": "Best macular dystrophy", "disease-overview": "Best vitelliform macular dystrophy (BVMD) is a genetic form of macular degeneration (damage to a part of the eye called the macula) that occurs in about 1 in 10,000 individuals. The physical cause of BVMD is breakdown of the tissue in the retina called retinal pigment epithelium (RPE). The condition gets worse over time, starting with blurred central vision, and possibly leading to complete loss of central vision. Peripheral vision (vision from the sides of the eye) and the ability of the eye to adjust to dark are unaffected. The age of onset of BVMD can vary. Many individuals with BVMD have symptoms in childhood or early adulthood. BVMD is associated with a harmful genetic change (mutation) in the BEST1 gene. There is no cure for BVMD, although some treatments and medications exist that can minimize the damage caused by breakdown of the RPE including anti-VEGF therapy (medicine used to prevent growth of new blood vessels in the eye), laser photocoagulation (laser treatment used to destroy leaky blood vessels), and photodynamic therapy (a combination of medicine and laser treatment used to get rid of bad eye cells).", "symptoms": "BVMD has an average age of onset between age 5 and 10 but can vary from person to person. Affected individuals initially have normal vision and then experience blurred vision, reduced sharpness or clarity of vision or the appearance of objects that have a distorted shape (metamorphosia). BVMD affects central vision but usually not peripheral vision and varies in severity.", "causes": "The macula is the region of the retina that contains the light-sensing cells necessary for central vision. Individuals with BVMD develop a yellowish material under the macula that resembles an egg yolk (vitelliform means yolk-like). This material eventually breaks up and spreads throughout the macula, leading to a reduction in central vision. Lipofuscin, a chemical made by the body, makes up this yolk-like material.", "affected": "BVMD is fairly common form of macular degeneration affecting about 1 in 10,000 individuals. Typical age of onset is between the ages of 5 and 10 but can occur earlier or later. BVMD occurs equally often in men and women. This condition has been diagnosed in individuals of European, African and Hispanic ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of BVMD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Adult vitelliform macular dystrophy is an autosomal dominant form of macular dystrophy that usually begins in middle age. A yolk-like mass is often present on the macula, but a special light test used to evaluate the function of the layer of cells between the retina and eye wall (retinal pigment epithelium) is usually normal. Some affected individuals have an abnormality in either the BEST1 or PRPH2 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:231214", "name_zh": "β-地中海贫血重型", "Name": "Beta-thalassemia major", "disease_name": "Beta Thalassemia", "synonyms": "Mediterranean anemia", "disease-overview": "", "symptoms": "The symptoms and severity of beta thalassemia varies greatly from one person to another. Individuals with beta thalassemia minor do not develop symptoms of the disorder but may have a mild anemia. Many individuals with beta thalassemia minor go through life never knowing they carry an altered gene for the disorder.", "causes": "Most beta thalassemia cases are caused by a mutation in the HBB gene. In extremely rare cases, a loss of genetic material (deletion) that includes the HBB gene causes the disorder. Genes provide instructions for creating proteins that play a critical role in many body functions. When a gene mutation occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Individuals with beta thalassemia minor have a mutation in one HBB gene and are carriers for the disorder. Individuals with beta thalassemia intermedia or major have mutations in both HBB genes.", "affected": "Beta thalassemia is relatively rare in the United States, but is one of the most common autosomal recessive disorders in the world. The incidence of symptomatic cases is estimated to be approximately 1 in 100,000 individuals in the general population. The disorder is particularly prevalent in the Mediterranean, Middle East, Africa, central Asia, the Indian subcontinent, and the Far East. Individuals in other parts of the world whose families are from these regions carry a greater risk of having beta thalassemia.", "related-disorders": "Symptoms of the following disorders can be similar to those of beta thalassemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of beta thalassemia is based upon identification of characteristic symptoms, a clinical evaluation and a variety of specialized tests. With beta thalassemia major, initial symptoms often become apparent during the first two years of life and include failure to thrive, a swollen abdomen and symptoms of anemia. Beta thalassemia intermedia may be suspected in individuals who present with similar (yet milder) symptoms, but at a later age.", "therapies": NaN}
{"OrphaCode": "ORPHA:118", "name_zh": "β-甘露糖苷贮积症", "Name": "Beta-mannosidosis", "disease_name": "Beta-Mannosidosis", "synonyms": "beta-D-mannosidosis", "disease-overview": "", "symptoms": "The signs and symptoms, progression and severity of beta-mannosidosis vary widely among affected individuals. Individuals may develop signs and symptoms between infancy and adulthood. It is important to note that every individual is unique and how the disorder affects one person can be different from how it affects another.", "causes": "Beta-mannosidosis is caused by changes (variants or mutations) in the MANBA gene. The MANBA gene contains instructions for creating a type of protein (enzyme) called beta-mannosidase. Inside cells throughout the body are specialized compartments called lysosomes that contain enzymes to break down (metabolize) and recycle materials to support normal body functions. One type of material is glycoproteins that are composed of chains of sugar molecules (oligosaccharides). During metabolism, the chain is taken apart by separating the sugar molecules. Beta-mannosidase helps this process in certain oligosaccharides that contain a particular sugar molecule called mannose. The enzyme’s function is to specifically separate mannose from its neighboring sugar molecule and help break down the chain.", "affected": "Beta-mannosidosis affects females and males in equal numbers. The exact number of people who have this disorder is unknown. Beta-mannosidosis may often go misdiagnosed or undiagnosed, especially in individuals with mild or non-specific symptoms, making it difficult to determine its true frequency in the general population. As of May 2023, the International Society for Mannosidosis and Related Diseases estimates approximately 20 individuals in the world are reported to be affected.", "related-disorders": "Clinical features of the following disorders can be similar to those of beta-mannosidosis.", "diagnosis": "A diagnosis of beta-mannosidosis is based on characteristic clinical features, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A blood test to measure beta-mannosidase enzyme activity in blood plasma or white blood cells (leukocytes) can reveal less activity than expected. A urine test (urinalysis) can show a higher amount of mannose-containing oligosaccharides in the urine. A diagnosis of beta-mannosidosis can be confirmed with molecular genetic testing.", "therapies": NaN}
{"OrphaCode": "ORPHA:485631", "name_zh": "先天性胆汁酸合成缺陷", "Name": "Congenital bile acid synthesis defect", "disease_name": "Bile Acid Synthesis Disorders", "synonyms": "BASD", "disease-overview": "", "symptoms": "Although researchers have been able to establish clear syndromes with characteristic or core symptoms, much about bile acid synthesis disorders is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing these disorders prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Bile acid synthesis disorders are caused by mutations in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. In all known BASDs, these mutations are believed to be inherited in an autosomal recessive pattern.", "affected": "Bile acid synthesis disorders affect males and females in equal numbers. Individuals of any race or ethnic group can be affected. The incidence and prevalence of BASDs are unknown. These disorders have been estimated to account for as many as 1-2% of all childhood cholestatic disorders. However, many cases go undiagnosed or misdiagnosed making it difficult to determine their true frequency in the general population. CTX has an estimated prevalence of 1 in 70,000 individuals in the general population. It is estimated that BASDs have prevalence of 1 in 50,000 in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of bile acid synthesis disorders. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a bile acid synthesis disorder should be suspected in infants or young children who have jaundice, other symptoms of cholestatic liver disease with an unknown cause, or fat soluble vitamin deficiency and growth failure. The identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation can support a suspected diagnosis. However, symptoms of BASDs overlap with numerous other liver disorders. Confirmation of a BASD requires examination by tests performed at or assessed by specialized diagnostic laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:30391", "name_zh": "孤立型胆道闭锁", "Name": "Biliary Atresia", "disease_name": "Biliary Atresia", "synonyms": "", "disease-overview": "Biliary atresia is a rare gastrointestinal disorder characterized by destruction or absence of all or a portion of the bile duct that lies outside the liver (extrahepatic bile duct). The bile duct is a tube that allows the passage of bile from the liver into the gall bladder and, eventually, the small intestine. Bile is a liquid secreted by the liver that plays an essential role in carrying waste products from the liver and promoting absorption of fats and vitamins by the intestines. In biliary atresia, absence or destruction of the bile ducts results in the abnormal accumulation of bile in the liver. Affected infants have yellowing of the skin and whites of the eyes (jaundice) and scarring of the liver (fibrosis). In some cases, additional abnormalities may be present, including heart defects and intestinal, spleen and kidney malformations. The exact cause of biliary atresia is unknown.", "symptoms": "The symptoms of biliary atresia usually appear by the age of two to six weeks and include a yellowish coloration of the skin and whites of the eyes (jaundice), abnormally pale stools, and dark urine. Infants may also have swollen (distended) stomach and/or abnormal enlargement of the liver (hepatomegaly). By the age of six to 10 weeks, additional symptoms may also develop including poor weight gain, irritability and/or an increase in blood pressure within the veins that carry blood from the intestine to the liver (portal hypertension). Bile ducts inside the liver (intrahepatic bile ducts) are also involved. If left untreated, biliary atresia may result in permanent scarring of the liver (cirrhosis) and, eventually, liver (hepatic) failure.", "causes": "The exact cause of biliary atresia is unknown, but several factors contribute to the development of the disorder, including immunologic, infectious/toxic, and genetic factors. Although the bile ducts may be normal at birth, one or more of these factors initiate epithelial damage (independently or with the help of an activated immune system) and trigger rapid production of fibrous tissue (sclerosis) causing an obstruction of bile ducts. Several viruses, including cytomegalovirus, reovirus type 3 and rotavirus infections are being studied as possible causative agents.", "affected": "Biliary atresia is a rare disorder with a slight increased frequency in females. It occurs in approximately 1 in 10,000 to 15,000 births in the United States. Approximately 400-600 new cases of biliary atresia are encountered in the United States each year. According to one estimate, the prevalence of biliary atresia in Europe is approximately 1 in 12,000 births. Biliary atresia is the most common cause of end-stage liver disease and liver transplantation in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of biliary atresia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Neonatal hepatitis (sometimes referred to as neonatal cholestasis) is a term used to describe a group of disorders that present with jaundice due to inflammation of the liver and/or injury of the bile duct structure within the liver (intrahepatic). Despite the name hepatitis, most of these disorders are not caused by infections. Some of the more common disorders are the Alagille syndrome, deficiency of alpha-1-antitrypsin protein, cystic fibrosis, progressive familial intrahepatic cholestasis, and defects in synthesis of bile acids. The cause for neonatal hepatitis in some infants remains unknown. In these infants, some studies suggest an association with an infectious or viral disease. Symptoms of neonatal hepatitis typically appear during the first few weeks of life and may include a yellow discoloration of the skin and whites of the eyes (jaundice), an abnormally enlarged liver (hepatomegaly), poor feeding, slow growth, itchy skin, abdominal discomfort, lightly colored stools, and/or dark urine. (For more information on this disorder, choose Neonatal Hepatitis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1248", "name_zh": "上颌窦-鼻发育异常", "Name": "Maxillonasal dysplasia", "disease_name": "Binder Type Nasomaxillary Dysplasia", "synonyms": "Binder syndrome", "disease-overview": "", "symptoms": "Although researchers have been able to establish characteristic or core symptoms, much about Binder type nasomaxillary l dysplasia is not fully understood. Several factors including the small number of identified affected individuals, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing an accurate picture of associated symptoms and prognosis.", "causes": "The exact, underlying cause of Binder type nasomaxillary dysplasia is not fully understood. In many cases, the disorder is believed to occur spontaneously, for no apparent reason (sporadically). However, there have been reports in the medical literature of families in which more than one family member was affected. This suggests that genetic factors play a role in some affected individuals. Some researchers have suggested that Binder type nasomaxillary dysplasia is a genetic disorder inherited in either an autosomal dominant or recessive manner. Other researchers have suggested that the disorder is caused by complex genetic factors, specifically the interaction of many different genes, possibility in combination with environmental factors (multifactorial inheritance).", "affected": "Binder type nasomaxillary dysplasia is a rare congenital condition that affects males and females in equal numbers. The exact incidence or prevalence is unknown. One estimate suggests that Binder syndrome occurs in less than 1 per 10,000 live births. However, individuals may go undiagnosed or misdiagnosed making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Binder type nasomaxillary dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Binder syndrome is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. Certain specialized tests can be used to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79241", "name_zh": "生物素酶缺陷症", "Name": "Biotinidase deficiency", "disease_name": "Biotinidase Deficiency", "synonyms": "BTD deficiency", "disease-overview": "", "symptoms": "Infants with BTD may be born without signs of the condition. Symptoms of BTD usually appear after the first few weeks or months of life. Treating BTD with biotin supplements before symptoms show up can prevent them from happening. Below is a list of symptoms that infants and children with profound untreated BTD may have. It is important to know that not every person with BTD will show all of these symptoms.", "causes": "Biotinidase deficiency is a genetic disorder caused by changes (mutations) in the BTD gene. The BTD gene instructs the body in creating the enzyme biotinidase that helps the body recycle an important vitamin called biotin (vitamin H). When the body is not able to recycle biotin, health concerns like the symptoms above can happen.", "affected": "Biotinidase deficiency is a rare disorder. The early-onset form (profound BTD) usually begins during the newborn (neonatal) period. The juvenile form (partial BTD) usually begins at about three months of age. Both males and females are affected in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of biotinidase deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Biotinidase deficiency can be diagnosed in newborns through newborn screening. Newborn screening is a special type of screening test that newborns receive to see if they have certain diseases. Because the newborn screen is a screening test, a positive result does not mean that an infant definitely has the disease. Often, a repeat test must be done to confirm the diagnosis. A clinical diagnosis is possible after birth by testing for biotinidase activity in the blood. Usually, this is performed when signs and symptoms of BTD become clearer. In some infants, a genetic test may be ordered to identify the specific gene changes (mutation) that are causing BTD. Prenatal testing of sample fluid from the womb for biotinidase activity is available as early as 12 weeks of pregnancy (this includes chorionic villi sampling and amniocentesis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:122", "name_zh": "Birt-Hogg-DubÚ综合征", "Name": "Birt-Hogg-Dubé syndrome", "disease_name": "Birt-Hogg-Dubé Syndrome", "synonyms": "BHD syndrome", "disease-overview": "", "symptoms": "The symptoms of Birt-Hogg-Dubé syndrome vary from person to person. The most common symptoms are multiple, benign skin lesions, lung (pulmonary) cysts, increased risk of repeated collapsed lungs (pneumothorax) and kidney (renal) neoplasia (malignant and benign tumors). Skin papules are the most frequent symptom occurring in up to 85% of individuals with BHD, but some affected individuals may develop lung cysts/pneumothorax and renal neoplasia without skin lesions. Symptoms of BHD may vary in affected members of a single BHD family who inherit the same FLCN gene variant, and patients may develop one, two or all three of the characteristic features in any combination.", "causes": "BHD syndrome is caused by changes (pathogenic variant or mutations) in the FLCN gene. The FLCN gene carries the instructions to produce (encode) folliculin, a protein whose precise function is not known, but which interacts with proteins that function in cellular pathways involved in cell growth, energy production and metabolism. The FLCN gene is a tumor suppressor gene, a gene that keeps cell growth in check or slows its growth, repairs damage to the DNA of cells and tells cells when to die, a normal process called apoptosis. Variants in a tumor suppressor gene often predispose individuals to develop cancer, but having a gene variant does not absolutely guarantee development of the disease.", "affected": "Birt-Hogg-Dubé syndrome is a rare disorder that affects males and females in equal numbers. About 600 families (kindreds) affected with BHD have been described to date in the medical literature. Some researchers believe BHD syndrome is under-diagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Birt-Hogg-Dubé syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Birt-Hogg-Dubé syndrome is made based upon a thorough clinical evaluation, detailed patient history and identification of characteristic symptoms including two or more fibrofolliculomas, history of spontaneous pneumothorax or bilateral, multiple chromophobe or hybrid oncocytic renal tumors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:123", "name_zh": "Bj÷rnstad综合征", "Name": "Björnstad syndrome", "disease_name": "Björnstad Syndrome", "synonyms": "deafness and pili torti, Bjornstad type", "disease-overview": "", "symptoms": "Bjornstad syndrome is characterized by the presence of abnormally flat and twisted hair shafts defined as pili torti. BS patients usually present with dry, fragile, lusterless, and/or coarse scalp hair. When studied under an electron microscope, hair shafts from the scalp appear flattened and/or twisted (torti) at regular intervals. Body hair may exhibit the same characteristic twisting (pili torti) as scalp hair. In some patients, patchy areas of hair loss (alopecia) may be present on the scalp as well as on other areas of the body. However, the eyebrows and eyelashes are typically not affected. Light colored eyes and hair could be associated with BS and some individuals may also experience a lack of sweating (anhidrosis). Most BS patients have deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineural hearing loss).", "causes": "Bjornstad syndrome is caused by changes (mutations) in the BCS1L gene. This gene codes for a chaperone protein that is a member of the AAA family of ATPases. An ATPase is an enzyme that uses ATP (adenosine triphosphate), the main energy source in cells, to drive chemical reactions. This particular ATPase is involved in the assembly of complex III in the mitochondrial electron transport chain. The electron transport chain is responsible for generating the energy that cells require. Complex III also produces reactive oxygen species. When present in high numbers, these reactive compounds will cause damage to tissue. Even though this abnormal protein leads to a decrease in the activity of complex III, the complex will produce more reactive oxygen species.", "affected": "Bjornstad syndrome is an extremely rare disorder. In theory, it affects males and females in equal numbers. However, in observed cases, more females than males have been identified. Less than 50 cases are reported in the medical literature.", "related-disorders": "Some genetic disorders present symptoms that can be similar to those of Bjornstad syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Menkes disease is an inherited X-linked recessive genetic disorder caused by disruption of copper metabolism and affects many systems in the body. Affected infants are often born prematurely and may have non-specific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. One obvious and specific physical sign is steely or kinky hair that usually develops by several months of age. Menkes disease is also associated with seizures, stunted growth, failure to thrive, unstable body temperature and intellectual disability. (For more information on this disorder, choose Menkes as your search term in the Rare Disease Database.)", "therapies": "There is no specific therapy for BS patients. Treatment is symptomatic and supportive and directed toward the specific symptoms present in each child. Care may require the skills of a team of specialists. Pediatricians, specialists who assess and treat hearing loss (audiologists) and physicians who specialize in diagnosing and treating disorders involving the skin (dermatologists) may coordinate their efforts to ensure the comprehensive, systematic treatment of affected children."}
{"OrphaCode": "ORPHA:93930", "name_zh": "膀胱外翻", "Name": "Bladder Exstrophy-Epispadias-Cloacal Exstrophy Comple", "disease_name": "Bladder Exstrophy-Epispadias-Cloacal Exstrophy Comple", "synonyms": "Ectopia Vesicae", "disease-overview": "Bladder exstrophy-epispadias-cloacal exstrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. In classic bladder exstrophy, most anomalies are related to defects of the abdominal wall, bladder, genitalia, pelvic bones, rectum and anus.", "symptoms": "The bladder-exstrophy-epispadias-cloacal exstrophy complex can take many forms depending on the extent of the developmental abnormality that causes it.  The mildest form is when there is an opening in the urethra (epispadias).  The most severe form is when there is an opening in the urethra, bladder and bowel (cloacal exstrophy).", "causes": "In normal development, the cloacal membrane temporarily separates the urogenital and anal structures and them breaks when tissue that will form abdominal muscles begins to grow in its place.   The bladder exstrophy-epispadias-cloacal exstrophy complex is caused by a developmental abnormality that occurs 4-5 weeks after conception in which the cloacal membrane is not replaced by tissue that will form the abdominal muscles.  The underlying cause of this error in development is not known.", "affected": "The birth prevalence of classic bladder exstrophy has been estimated to be between 1 in 10,000 and 1 in 50,000 livebirths.  Males are affected 2-3 times more often than females.  Isolated epispadias occurs in approximately 1 in 112,000 live male births and 1 in 400,000 live female births.  Cloacal exstrophy occurs in approximately 1 in 400,000 live births.", "related-disorders": "", "diagnosis": "Prenatal ultrasound examination of a fetus with the complex may reveal absence of bladder filling, low-set umbilical cord, separation of pubic bones, small genitals and an abdominal mass that increases in size as the pregnancy progresses.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:73260", "name_zh": "副球孢子菌病", "Name": "Blastomycosis", "disease_name": "Blastomycosis", "synonyms": "Gilchrist's Disease", "disease-overview": "Blastomycosis is a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according the affected organ system. It is characterized by fever, chills, cough, and/or difficulty breathing (dyspnea). In the chronic phase of the disease, the lungs and skin are most frequently affected. The genitourinary tract and bones may also be involved.", "symptoms": "Blastomycosis is an infectious disease characterized by fever, chills, headaches, chest pain, weight loss, night sweats, cough, and/or difficulty breathing (dyspnea).  Some affected individuals do not experience these symptoms although they are actively infected (asymptomatic).  Muscle and joint pain may occur during the acute stage which typically lasts less than three weeks.  The disease may resolve on its own or persist into the chronic form of the infection.  Chronic Blastomycosis, which lasts more than three weeks, may affect the lungs, skin, bones, joints, genitourinary tract, and/or central nervous system.", "causes": "Blastomycosis is a rare infectious disease caused by the fungus Blastomyces dermatitidis.  This fungus grows and is inhaled through mold spores.  In the body the fungus converts to yeasts and invades the lungs.  It travels throughout the body through the blood.  Blastomycosis usually affects people with a compromised immune system.", "affected": "Blastomycosis affects males and females in equal numbers.  The organism that causes this disease (Blastomyces dermatitidis) is most common (endemic) in the south central and southeastern portions of the United States.  It may also be found around the perimeter of the Great Lakes, and along the St. Lawrence River in Canada.  Blastomycosis has also been reported in Mexico, the Middle East, Africa, India, and South and Central America.", "related-disorders": "Symptoms of the following disorders can be similar to those of Blastomycosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Paracoccidioidomycosis (PCM) is a chronic infectious tropical disease caused by the fungus Paracoccidioides brasiliensis.  The initial infection usually occurs in the lungs, but may also spread to the skin, mucous membranes, and other parts of the body.  The symptoms generally develop about five years after the initial exposure to the fungus and vary according to the area of the body that is infected.  In Mucocutaneous Paracoccidioidomycosis, ulcers appear on the mucous membranes, especially those of the mouth and nose.  When the lungs are affected, symptoms may include cough, difficulty breathing (dyspnea), fatigue, and/or chest pain.  (For more information on this disorder, choose Paracoccidioidomycosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:126", "name_zh": "睑裂狭小-上睑下垂-倒转型内眦赘皮综合征", "Name": "Blepharophimosis-ptosis-epicanthus inversus syndrome", "disease_name": "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome", "synonyms": "BPES", "disease-overview": "Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare developmental condition affecting the eyelids and ovary. Typically, four major facial features are present at birth: narrow eyes, droopy eyelids, an upward fold of skin of the inner lower eyelids and widely set eyes. These features cause difficulty in opening the eyes fully and may affect an affected individual’s quality of vision. BPES type I involves premature ovarian insufficiency (POI) in females as well as the characteristic facial features, whereas BPES type II is characterized by these facial features alone. Potential treatments include corrective eyelid surgery, hormone replacement therapy for premature ovarian insufficiency and embryo/egg donation for consequent problems with fertility.", "symptoms": "The four major features that are characteristic symptoms of BPES are present at birth: narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), formation of an upward fold of the inner lower eyelid (epicanthus inversus) and increased distance between the eyes (telecanthus). There are two types of BPES, BPES type I and type II, which are both characterized by the typical eyelid malformation. However, BPES type I is also associated with loss of ovarian function or premature ovarian insufficiency (POI). Menstrual periods in women with POI become less frequent over time and stop before the age of 40 thus leading to either difficulty (subfertility) or inability to conceive (infertility).  Other minor facial features frequently observed in both types include lazy eye (amblyopia), crossed eyes (strabismus), low-set ears, a short distance between the upper lip and nose, and a broad nasal bridge.", "causes": "FOXL2 is the only gene known to cause BPES. This gene controls the production of the FOXL2 protein, which is involved in the development of the muscles in the eyelid as well as the growth and development of ovarian cells. Disease-causing changes (mutations) in the FOXL2 gene result in the signs and symptoms described above.", "affected": "The prevalence of BPES is unknown, but there are no differences in prevalence based on ethnicity, sex, race or age.", "related-disorders": "As POI is part of the phenotypic spectrum of BPES type I, FOXL2 was assumed to be a possible candidate gene for nonsyndromic POI. However, only a handful of mutations in FOXL2 have been described in patients with nonsyndromic POI.", "diagnosis": "The diagnosis of BPES is based on four clinical findings which are present at the time of birth. The first of these findings is narrowing of the eyelids (blepharophimosis). The second finding is drooping of the upper eyelid (ptosis). With this condition, affected individuals usually compensate by tilting their heads backward with their chin up and wrinkling their foreheads to pull the eyebrows upward to maintain full vision. These compensatory mechanisms result in a characteristic facial appearance. The third clinical finding is a skin fold that arises from the lower eyelid and runs inwards and upwards (epicanthus inversus). The final clinical finding used for diagnosis is widely set eyes (telecanthus). There are two types of BPES. Type I is diagnosed based on the four major features mentioned as well as premature ovarian insufficiency causing infertility or subfertility in females. Type II is diagnosed based on the presence of the four major features alone.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:125", "name_zh": "Bloom综合征", "Name": "Bloom syndrome", "disease_name": "Bloom Syndrome", "synonyms": "Bloom syndrome", "disease-overview": "Bloom syndrome (BSyn) is a rare genetic disorder characterized by short stature; a sun-sensitive, red rash that occurs primarily over the nose and cheeks; mild immune deficiency with increased susceptibility to infections; insulin resistance that resembles type 2 diabetes; and most importantly, a markedly increased susceptibility to many types of cancer, especially leukemia, lymphoma and colorectal tumors. Diagnosis typically involves identification of the characteristic clinical features and/or molecular testing to identify changes (variants) in the BLM gene. BSyn is inherited in an autosomal recessive pattern, meaning that it occurs when a person inherits two disease-causing variants in the BLM gene. Because the most common BLM variant is present at a high frequency in the Eastern European Jewish (Ashkenazi) population, it is often included among the Jewish genetic diseases. The genetic abnormality in Bloom syndrome causes problems with DNA repair, resulting in a high number of chromosome breaks and rearrangements. The abnormal DNA repair is responsible for the increased risk for cancer.", "symptoms": "The most consistent clinical feature of BSyn, seen throughout all stages of life, is poor growth that affects height, weight and head circumference. This growth deficiency begins before birth, and the affected fetus is typically smaller than normal for gestational age. Body proportions are normal. The average adult height of affected males and females is below normal and the average head circumference was below normal at all ages in a study of 136 Bsyn patients.", "causes": "Bloom syndrome is caused by disease-causing variants in the BLM gene. The BLM gene is responsible for making a protein known as BLM. The BLM protein that is abnormal in people with Bloom syndrome is a RecQ helicase. Helicases help in DNA replication and repair by temporarily unzipping or unwinding the double helix of DNA so that it can be replicated. When this helicase is defective, as is the case in BSyn, a cell cannot detect and repair errors as effectively. This means that DNA damage during the course of a cell’s life is not found and repaired, so the cell cannot continue to function. The cell may die, or in some cases the damaged cells may continue to grow in an abnormal fashion and result in cancer.", "affected": "Bloom syndrome is rare, with about 294 cases reported to the Bloom Syndrome Registry. Although it occurs in many ethnic groups, it is more prevalent in people of Ashkenazi Jewish heritage whose ancestors were from Poland or the Ukraine. Among Ashkenazi Jews living in the U.S, the carrier frequency is about one in 157. Among Ashkenazi Jews living in Israel, the carrier frequency is about one in 111. Bloom syndrome has been diagnosed in people all over the world, and about 75% of cases occur in people who are not of Jewish ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of Bloom syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Three recently discovered disorders show increased SCE, a feature originally thought to be unique to BSyn, and are associated with small stature similar to that of BSyn. These disorders involve genes (RMI1, RMI2, and TOP3A) that code for proteins that interact with the BLM protein to repair DNA. However, cancer has not been observed in persons with RMI1 and RMI2 disorders yet. TOP3A disorder has also been associated with cardiomyopathy, which is not commonly found in patients with BSyn.", "therapies": "The treatment of Bloom syndrome is symptomatic and supportive. Health supervision recommendations that address diagnosis, treatment and surveillance for complications in persons with Bloom syndrome have been published [Cunniff et al. 2018]."}
{"OrphaCode": "ORPHA:94086", "name_zh": "蓝色尿布综合征", "Name": "Blue Diaper Syndrome", "disease_name": "Blue Diaper Syndrome", "synonyms": "Drummond's Syndrome", "disease-overview": "Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked recessive trait.", "symptoms": "Blue diaper syndrome is a rare inborn error metabolism that is usually detected when urine produces unusual blue stains on an infant’s diapers (indoluria). This occurs when intestinal bacteria break down excessive amounts of unabsorbed tryptophan.", "causes": "Blue diaper syndrome is a rare disorder inherited as an autosomal recessive trait although X-linked recessive inheritance has not been completely ruled out. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Blue diaper syndrome is an extremely rare metabolic disorder that affects males and females in equal numbers. The incidence of the disorder in the general population is unknown.", "related-disorders": "Symptoms of the following disorder can be similar to those of blue diaper syndrome. Comparison may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of blue diaper syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms, and the demonstration of indican in a fresh urine sample (indicanuria).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1059", "name_zh": "蓝色橡皮疱样痣", "Name": "Blue rubber bleb nevus", "disease_name": "Blue Rubber Bleb Nevus syndrome", "synonyms": "Bean syndrome", "disease-overview": "Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Lesions in the gastrointestinal tract frequently become apparent during childhood or early adulthood. The lesions are multifocal venous malformations, resulting from abnormal embryonic blood vessel development.", "symptoms": "BRBNS is characterized by soft, elevated lesions on the skin or just under the skin that are dark blue, red, purple-red or black in color. The venous malformations may be tender, contain blood and be easily compressed and are usually located on the upper limbs, trunk and soles of the feet but can occur anywhere. The lesions increase in size and become more apparent over time but have not been reported to become cancerous. The organ system most commonly affected by BRBNS is the gastrointestinal (GI) tract, particularly the small intestine. The lesions in the GI tract often bleed and can lead to mild or severe anemia. Iron replacement and/or frequent blood transfusions may be required. The GI lesions can also cause an obstruction or blockage (intussusception) of part of the bowel. Skeletal abnormalities and venous malformations in muscle are sometimes associated with BRBNS.", "causes": "Blue rubber bleb nevus syndrome is sporadic.  Although families have been described in which the condition follows autosomal dominant inheritance, these families actually have other multifocal venous malformations.", "affected": "Blue Rubber Bleb Nevus Syndrome affects males and females in equal numbers. Approximately 150 cases have been reported in the medical literature.", "related-disorders": "Arteriovenous malformation (AVM) is a congenital defect in which arteries and veins are tangled and not connected by capillaries. The lack of capillaries allows blood traveling through the abnormal vessels to flow rapidly and under high pressure and prevents the nutrient rich blood in the arteries from reaching the tissues. AVM can occur in many different parts of the body, but those located in the brain, brainstem and spinal cord (neurological AVM) can affect the entire body. (For more information about arteriovenous malformation, choose arteriovenous malformation as your search term in the Rare Disease Database).", "diagnosis": "BRBNS is diagnosed by physical examination and a procedure in which the GI tract is illuminated and visualized (endoscopy). Genetic testing for BRBNS is available on a research basis only.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97297", "name_zh": "Bohring-Opitz综合征", "Name": "Bohring-Opitz syndrome", "disease_name": "Bohring-Opitz Syndrome", "synonyms": "Oberklaid-Danks syndrome", "disease-overview": "", "symptoms": "BOS presents typically at birth, but not all signs may be evident immediately. Infants with BOS may display poor growth prenatally (intrauterine growth restriction), and may have brain abnormalities evident on prenatal ultrasound, including but not limited to agenesis of the corpus callosum, enlarged ventricles, or Dandy-Walker malformation.", "causes": "BOS is thought to be caused by changes (mutations) in the ASXL1 gene. This gene is thought to play a role in chromatin remodeling, which is responsible in part for the packaging of genetic material in the body. The ASXL1 gene is also thought to be involved in activating and silencing other genes in the HOX family.", "affected": "BOS is not thought to affect one population of individuals more than another, and does not show any higher prevalence in males or females. There are no areas of the world where BOS is thought to be more common due to founder mutations or inbreeding (consanguinity). The current prevalence is unknown; there have been approximately 50 individuals reported in the literature but there may be others who have either not had testing or who have not come to medical attention.", "related-disorders": "Bainbridge-Roper syndrome (BRS) – Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Individuals with BRS may have similarly delayed milestones and developmental differences, poor growth, feeding difficulties, low tone, and microcephaly. Individuals with BRS do not typically have the birthmarks seen in children with BOS or the posturing of the hands and elbows seen in BOS.", "diagnosis": "The definitive diagnosis of BOS is made after molecular testing for mutations in the ASXL1 gene. Clinical suspicion for BOS may be raised if an individual displays the characteristic BOS posturing of the hands and elbows, is having delayed growth and developmental milestones, and has the characteristic facial features seen in BOS, including the presence of characteristic birthmarks. While the aforementioned characteristics are considered classic, individuals may present more variably, so BOS should not be entirely excluded necessarily on clinical presentation alone, unless obvious signs of another condition are present.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1135", "name_zh": "无鼻畸形-鼻后孔闭锁-小眼畸形综合征", "Name": "Bosma Arhinia Microphthalmia Syndrome", "disease_name": "Bosma Arhinia Microphthalmia Syndrome", "synonyms": "Gifford-Bosma syndrome", "disease-overview": "", "symptoms": "Researchers have been able to delineate a recognizable syndrome with characteristic or core symptoms, but much about this disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies and other factors have prevented physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below or may have symptoms that are not discussed. Every patient is unique, and the disorder can be different in one child when compared to another. Parents should talk to their child’s physicians and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "In 2017, two independent teams of researchers discovered that BAM syndrome is caused by a change (variant) in the SMCHD1 gene. The gene variant is usually a spontaneous (de novo) change in SMCHD1 that occurs in the egg or sperm cell. In such situations, it is not inherited from a parent. Rarely, an SMCHD1 gene variant can be inherited from a parent.", "affected": "BAM syndrome is an extremely rare disorder that is known to affect patients from many different ethnic groups. As with many rare disorders, the exact incidence or prevalence of this disorder is unknown. The disorder probably goes misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. Fewer than 100 people with this disorder have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of BAM syndrome. For more information on each of these disorders, enter the disease name as your search term in the Rare Disease Database.", "diagnosis": "Arhinia is apparent at birth and can sometimes be suspected prenatally. A medical geneticist, pediatrician, or other pediatric subspecialist should do a complete physical exam and order tests to look for the two other major features of BAM syndrome: eye defects and genital/hormone defects. Molecular genetic testing for variants in the SMCHD1 gene that are associated with BAM syndrome is available at specialized laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1267", "name_zh": "肉毒梭菌毒素中毒", "Name": "Botulism", "disease_name": "Botulism", "synonyms": "", "disease-overview": "Botulism is a rare but serious paralytic illness caused by a toxin usually produced by the bacterium Clostridium botulinum. There are four generally recognized naturally occurring types; foodborne, wound, infant, and, rarely, adult intestinal colonization. Iatrogenic and inhalational botulism may also occur. Foodborne botulism is caused by eating foods that contain botulinum toxin. Wound botulism occurs when C. botulinum spores germinate and produce toxin in a contaminated wound or abscess. The most common form of botulism in the United States, infant botulism, is caused when ingested C. botulinum spores colonize and subsequently produce toxin in the intestines of affected infants. In rare instances, C. botulinum intestinal colonization and toxin production have also occurred among adults with anatomical or functional bowel abnormalities. Additionally, iatrogenic botulism has infrequently occurred after intramuscular injection of botulinum toxin for treatment of certain dystonias and other disorders. Finally, inhalational botulism, though not naturally occurring, was reported among three German laboratory workers who inadvertently inhaled aerosolized toxin and could potentially occur after a deliberate aerosolization of toxin in a bioterrorism event. Any case of foodborne or unexplained botulism is considered to be a public health emergency because of the potential for toxin-containing foods to injure others who eat them and because of the potential misuse of botulinum toxin as a biological weapon. State and local public health officials by law must be informed immediately whenever botulism is suspected in a human patient.", "symptoms": "The incubation period for foodborne botulism is usually 12 – 36 hours but may range from a few hours to 10 days. Symptom onset might occur faster in an inhalational botulism scenario. Symptoms can range from mild to severe. The classic medical triad of botulism is a weakness or paralysis and reduced muscle tone in a patient without fever (afebrile) and with a clear sensorium (alert and able to respond to questions). Fever might occur after a secondary infection (e.g., aspiration pneumonia).", "causes": "Foodborne botulism is the result of ingestion and absorption of toxin that is produced by C. botulinum in contaminated foods. Wound botulism is caused by toxin produced from a wound infected with C. botulinum. Unlike foodborne and wound botulism, infant botulism and adult intestinal colonization botulism result from ingestion of the bacterial spore(s) that grow and produce botulinum toxin within the large intestine. Honey is the one identified and avoidable food reservoir of these spores for infant botulism. After testing over the years of hundreds of foods, beverages and other items placed in infants’ mouths with negative results, it was concluded that the source of spores for most infant botulism patients is unknown but may be from ingestion of microscopic dust particles on which the spores travel.", "affected": "Infant botulism occurs globally and is the most common form of human botulism in the United States. Patients diagnosed with botulism demonstrated a predominance of toxin type A west of the Rocky Mountains and type B east of the Rocky Mountains, while type E is more prevalent in the Pacific Northwest, Alaska and the Great Lakes area. Type E also occurs in northern latitudes and Japan. National botulism surveillance information is available from Centers for Disease Control and Prevention (CDC) at the following link:", "related-disorders": "Symptoms of the following disorders can be similar to those of botulism. Comparisons may be useful for differential diagnosis.", "diagnosis": "The clinical diagnosis of botulism may be made based upon a thorough clinical evaluation and a detailed patient history. The mouse bioassay and mass spectrometry–based testing (Endopep-MS) are the gold standard methods for laboratory confirmation of the clinical diagnosis and may demonstrate the presence of botulinum toxin in serum, gastric fluid, stool (mouse bioassay testing only) or food (foodborne botulism) specimens. Botulism can also be confirmed by culture of C. botulinum organisms from gastric fluid, stool, or a contaminated wound (wound botulism).", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:1270", "name_zh": "Bowen-Conradi综合征", "Name": "Bowen Hutterite Syndrome", "disease_name": "Bowen Hutterite Syndrome", "synonyms": "Bowen-Conradi Hutterite Syndrome", "disease-overview": "Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney (renal), brain, and/or other malformations. Bowen Hutterite syndrome is inherited as an autosomal recessive trait.", "symptoms": "Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities.", "causes": "Bowen Hutterite syndrome is transmitted as an autosomal recessive trait.  Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Bowen Hutterite syndrome appears to affect males and females in equal numbers. Since the disorder was originally described in two brothers in 1976 (P. Bowen), over 20 cases have been reported in the medical literature.  Most affected individuals are Hutterites.  The Hutterites are members of a religious sect (Anabaptists) originally from Moravia who live communally in certain regions of the United States (e.g., Montana, North and South Dakota) and Alberta, Canada.", "related-disorders": "Diagnosis", "diagnosis": "", "therapies": "Treatment of Bowen Hutterite Syndrome is symptomatic and supportive. Feeding through a surgical opening into the stomach (gastrostomy) may be needed in some cases."}
{"OrphaCode": "ORPHA:1297", "name_zh": "鳃眼面综合征", "Name": "Branchio-oculo-facial syndrome", "disease_name": "Branchio Oculo Facial Syndrome", "synonyms": "BOFS", "disease-overview": "Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder with defects of the head and neck that are apparent at birth (congenital) and usually diagnosed in childhood. As of 2018, fewer than 100 cases have been reported in the medical literature, although additional patients are probably followed world-wide.", "symptoms": "Infants with BOFS may have a low birth weight and may continue to experience abnormally slow growth after birth (postnatal growth retardation).", "causes": "BOFS is caused by mutations in the TFAP2A gene and follows an autosomal dominant pattern of inheritance.", "affected": "BOFS is a very rare disorder that apparently affects males and females in equal numbers. Fertility does not appear to be affected since there are many affected parents and children. People vary within families and compared to other families.", "related-disorders": "Cleft lip and cleft palate are among the most common congenital malformations. Clefts of the lip or palate result when the development of the face or mouth in an embryo is incomplete. Children born with this condition have an opening in their upper lip or the roof of the mouth. The defect ranges from a slight notch-like deformity to complete clefts of the lip and palate. Symptoms may include flattened nose and splayed lips, nasal quality voice, speech defects, deformed maxillary arch and an excessive number or absence of teeth.", "diagnosis": "The diagnostic criteria have been based on the hallmark features that include a branchial skin defect, ocular anomaly, and facial anomalies (B, O, F). If all three of the hallmark abnormalities are present, it would be characterized as branchio-oculo-facial syndrome. If two of the three hallmark defects are present, plus thymus tissue found in an abnormal location (ectopic thymus) or if a parent or child is affected, it would be characterized as branchio-oculo-facial syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:107", "name_zh": "BOR综合征", "Name": "BOR syndrome", "disease_name": "Branchiootorenal Spectrum Disorders", "synonyms": "branchiootorenal (BOR) syndrome", "disease-overview": "", "symptoms": "Most people with BOR/BOS syndrome have some type of hearing loss. The hearing loss may be due to nerve damage (sensory), blockage of sound waves (conductive), or both. The degree of hearing loss varies from mild to profound, and can differ between the two ears. The deafness can be stable or progressive. Other abnormalities related to the ear that may be present include pits or outgrowths of cartilage (tags) in front of the outer ear; a cupped or small outer ear; and/or a narrow or upward slanted outer ear canal.", "causes": "BOR/BOS syndrome is caused by mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes.", "affected": "BOR/BOS syndrome affects males and females in equal numbers. It is estimated that 1 in 40,000 people have this disorder. BOR/BOS syndrome is found in approximately 2 to 3 percent of children with profound deafness.", "related-disorders": "Symptoms of the following disorders can be similar to those of branchiootorenal spectrum disorders. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Branchio-oculo-facial syndrome is a rare disorder inherited as an autosomal dominant trait. Major symptoms may include abnormal sinuses, growth delay, premature aging and an unusual facial appearance. Other features of this disorder may include low birth weight; graying of the hair; a highly arched palate; abnormalities of the teeth; and/or cysts under the skin of the scalp. (For more information on this disorder, choose branchio as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70589", "name_zh": "支气管肺发育不良", "Name": "Bronchopulmonary dysplasia", "disease_name": "Bronchopulmonary Dysplasia", "synonyms": "BPD", "disease-overview": "Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease that most often occurs in low-birthweight or premature infants who have received supplemental oxygen or have spent long periods of time on a breathing machine (mechanical ventilation), such as infants who have acute respiratory distress syndrome. BPD can also occur in older infants who experience abnormal lung development or some infants that have had an infection before birth (antenatal infection) or placental abnormalities (such as preeclampsia). Antenatal steroid treatment prior to preterm birth and early treatment with surfactant have reduced the need for high levels of respiratory support after birth.", "symptoms": "Some infants who develop BPD have a condition called respiratory distress syndrome (RSD), which is a breathing disorder that affects some premature infants immediately after birth. It is characterized by rapid, shallow breathing and leads to the need for oxygen and respiratory support in the first days of life. Affected infants may also exhibit fast breathing with signs of shortness of breath, a chronic cough or wheezing, flaring of the nostrils when breathing and bluish discoloration of the skin due to low levels of oxygen in the blood (cyanosis). Some infants may grunt when breathing out (exhaling). Additional symptoms may include abnormally fast breathing (tachypnea), wheezing or a crackling or rattling sound that is heard in the lungs when inhaling.", "causes": "BPD is caused by damage to the delicate tissue of the lungs, usually related to the degree of prematurity. This damage most often occurs in infants who have required extended treatment with supplemental oxygen or breathing assistance with a machine (mechanical ventilation) such as infants who are born prematurely and have acute respiratory distress syndrome.", "affected": "Bronchopulmonary dysplasia can affect both males and females. The exact incidence of BPD is unknown but is highest in infants born with extreme prematurity. The National Institutes of Health estimates that 10,000-15,000 babies born in the United States develop BPD each year. The risk of developing BPD increases the earlier a baby is born (gestational age) and the lower the birth weight. Infants born weighing less than 2.2 pounds are at the greatest risk for developing BPD. The number of cases of BPD has been increasing, most likely because of modern advances in medicine, which have enabled doctors to keep more low birth weight, premature babies alive than in the past. BPD was first described in the medical literature in 1967.", "related-disorders": "", "diagnosis": "A diagnosis of BPD is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including blood tests, chest x-rays and echocardiograms. Blood tests may show low levels of oxygen in the blood that require treatment with higher levels of oxygen or respiratory support. Chest x-rays may show distinctive changes in the lungs including abnormal development of the lungs. An echocardiogram is used to rule out other conditions that can cause breathing difficulties in infants such as congenital heart defects and helps show how the heart is working and the presence of a large PDA. During an echocardiogram, sound waves are directed toward the heart, enabling doctors to study cardiac function and motion.", "therapies": NaN}
{"OrphaCode": "ORPHA:404443", "name_zh": "身材高大-智力障碍-面部畸形综合征", "Name": "Brown Syndrome", "disease_name": "Brown Syndrome", "synonyms": "Superior Oblique Tendon Sheath Syndrome", "disease-overview": "Brown Syndrome is a rare eye disorder characterized by defects in eye movements. This disorder may be present at birth (congenital) or may occur as the result of another underlying disorder (acquired). Muscles control the movements of the eyes. Some of these muscles turn the eyeball up and down, move the eyeball from side to side, or enable the eyeball to rotate slightly in its socket. The superior oblique tendon sheath of the superior oblique muscle surrounds the eyeball. The symptoms of Brown Syndrome are caused by abnormalities of this tendon sheath including shortening, thickening, or inflammation. This results in the inability to move the affected eye upward.", "symptoms": "People with Brown Syndrome have limited eye movement in the affected eye. The ability to move the eyeball toward the center (adduction), or outward from the center (abduction), may be restricted or absent.  One eye may appear to be out of alignment with the unaffected eye, especially when looking upward.  The symptoms of Brown Syndrome may also include a droopy eyelid (ptosis), widening of the eye (palpebral fissure) when looking upward, crossing of the eyes (strabismus), and/or a backward head tilt.  A downward appearance (hypotropia) is usually present in the affected eye when the individual is looking straight ahead (primary position) or in an upward direction.  One eye is usually affected, but both eyes (bilateral) may be affected in approximately 10 percent of people with Brown Syndrome.", "causes": "The exact cause of most cases of Congenital Brown Syndrome is not known.  The symptoms of congenital Brown Syndrome may occur due to shortening of the tendon sheath of the superior oblique muscle or thickening of the sheath that restricts its movement.  However, acquired Brown Syndrome may be the result of trauma, surgery, and/or inflammation due to another underlying disorder such as Lupus or Rheumatoid Arthritis.", "affected": "Brown Syndrome is a rare eye disorder that affects slightly more females than males.  The symptoms of the congenital form of the disease are usually present at birth.  The acquired form may occur at any age.", "related-disorders": "Symptoms of the following disorder can be similar to those of Brown Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Duane Syndrome is a rare inherited eye disorder that is present at birth (congenital) and most commonly affects males.  It is characterized by limited horizontal movement of the affected eye.  Generally only one eye is affected. The ability to move the eye away from the center (abduction) is reduced or absent.  Movement of the eye toward the center (adduction) is also limited, and there may be weakness in focusing (convergence).  Attempted eye movements result in retraction of the eyeball.  An abnormally small eye (microphthalmus), an unusually small cornea (microcornea), and an irregularly shaped cornea (keratoconus) may also occur.  (For more information on this disorder, choose Duane as your search term in the Rare Disease Database.)", "therapies": "Some people with congenital Brown Syndrome may not require treatment. Alignment of the eyes may improve with age, especially in those children whose eyes are normally aligned when looking straight ahead. Other individuals with Brown Syndrome may require surgery to correct the alignment of the eyes. During surgery part of the tendon which connects the superior oblique muscle may be removed (sheathectomy with inferior oblique tuck). The results of surgery are usually excellent, but the condition may recur."}
{"OrphaCode": "ORPHA:1231", "name_zh": "Barber-Say综合征", "Name": "Brown Séquard Syndrome", "disease_name": "Brown Séquard Syndrome", "synonyms": "BSS", "disease-overview": "Brown-Séquard syndrome is a rare spinal disorder that results from an injury to one side of the spinal cord in which the spinal cord is damaged but is not severed completely. It is usually caused by an injury to the spine in the region of the neck or back. In many cases, affected individuals have received some type of puncture wound in the neck or in the back that damages the spine and causes symptoms to appear.", "symptoms": "Symptoms of Brown-Séquard syndrome usually appear after an affected individual experiences a trauma to the neck or back. First symptoms are usually loss of the sensations of pain and temperature, often below the area of the trauma. There may also be loss of bladder and bowel control. Weakness and degeneration (atrophy) of muscles in the affected area may occur.  Paralysis on the same side as that of the wound often occurs. Paralysis may be permanent if diagnosis is delayed.", "causes": "This syndrome is often a consequence of a traumatic injury by a knife or gunshot to the spine or neck.  In many cases, however, it is caused by, or is the result of, other spinal disorders such as cervical spondylosis, arachnoid cyst or epidural hematomas.  Brown-Séquard syndrome may also accompany bacterial or viral infections.  Blunt traumas, such as occur in a fall or automobile accident, on rare occasions may be the cause of the Brown-Séquard syndrome.", "affected": "Brown-Séquard syndrome is a rare disorder that affects males and females in equal numbers. More than 500 cases have been reported to date. The incidence of Brown-Séquard syndrome has been estimated to be 2% of all traumatic spinal cord injuries. The annual incidence of all forms of spinal cord injury is estimated to be 30-40 per 1,000,000 people.", "related-disorders": "Symptoms of the following disorders can be similar to those of Brown-Séquard Syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Motor Neuron Disease is a degeneration of motor neurons.  Motor neurons control the behavior of muscles.  Motor Neuron Disease may affect the upper motor neurons, which control the signals from the brain to the spinal cord, or the lower motor neurons which lead from the spinal cord to the muscles of the body.  (For more information on this disorder, choose Motor Neuron Disease as your search term in the Rare Disease Database.)", "therapies": "There is no specific treatment for individuals with Brown-Séquard syndrome. In most instances, treatment focuses on the underlying cause of the disorder. Treatment may involve drugs that control muscle symptoms, and there is some dispute as to whether high-dose steroid administration is effective."}
{"OrphaCode": "ORPHA:1304", "name_zh": "布鲁杆菌病", "Name": "Brucellosis", "disease_name": "Brucellosis", "synonyms": "Bang Disease", "disease-overview": "Brucellosis is an infectious disease that affects livestock and may be transmitted to humans. It is rare in the United States, but occurs more frequently in other parts of the world. The disorder is caused by one of four different species of bacteria that belong to the genus Brucella. Initial symptoms of infection may be nonspecific including fevers, muscle pain, headache, loss of appetite, profuse sweating, and physical weakness. In some cases, the symptoms occur suddenly (acute), whereas, in others, symptoms may develop over the course of a few months. If brucellosis is not treated, the disease may take months to resolve once appropriate therapy is begun.", "symptoms": "The symptoms of brucellosis vary greatly among affected individuals. Some individuals may have no apparent symptoms (asymptomatic); others can develop serious complications affecting various organ systems. The incubation period may range from 1-3 weeks to several months.", "causes": "Brucellosis is caused by the infectious bacterium Brucella. Most cases result from exposure to infected animals or contaminated animal products. Humans can contract the disease by eating or drinking food or liquids contaminated by Brucella, breathing in (inhaling) the bacteria, or through direct contact through an open wound. Most cases occur from eating contaminated food products especially improperly pasteurized milk, cheese, or raw meat. Animals may carry the bacteria without any symptoms, which results in the contamination of animal food products such as meat or dairy products. Brucella is most commonly found among cattle, sheep, goats, camels, deer, elk, and pigs.", "affected": "Brucellosis affects males and females in equal numbers. The disorder is rare in the United States since pasteurization of milk is routine and cattle are vaccinated against this disease. Fewer than 100 new cases are reported each year in the United States. These are thought to be brought into this country from areas where the infection is present (endemic) or they may be related to the consumption of unpasteurized cow and goat milk.", "related-disorders": "Symptoms of the following disorders can be similar to those of brucellosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of brucellosis is made based upon a thorough clinical evaluation, a detailed patient history and certain tests called cultures that can detect the presence of the bacterium Brucella in the blood, bone marrow, or tissue of affected organs. Cultures of blood, bone marrow, cerebrospinal fluid (when meningitis is present), or the tissue of any affected organ system may be performed to identify whether the bacterium Brucella is present.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:130", "name_zh": "Brugada综合征", "Name": "Brugada syndrome", "disease_name": "Brugada Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "An affected individual with Brugada syndrome typically begins to show symptoms around the age of 40. Individuals with Brugada syndrome may experience irregular heartbeats (ventricular arrhythmias) or may have no apparent symptoms (asymptomatic). Irregular heartbeats may cause difficulty breathing, loss of consciousness or fainting (syncope), and sudden death.", "causes": "Brugada Syndrome is caused mainly by mutations in the SCN5A gene which encodes the α-subunit of the voltage-gated Nav1.5, the cardiac sodium channel responsible for regulating rapid sodium current –INa-. It induces a disturbed functioning of sodium channel subunits or proteins that regulate them. Dysfunction of the sodium channels leads to local conduction blockages in the heart.", "affected": "Brugada syndrome affects both men and women, but occurs more often in men (5-8 times more). The incidence rate is currently unknown due to its recent identification and discovery. It is estimated to affect 5 out of every 10,000 people. Brugada syndrome occurs worldwide, but is seen more frequently in individuals of Southeast Asia and Japan. According to the medical literature, Brugada syndrome may account for 4 to 12 percent of all sudden deaths and up to 20 percent of all sudden deaths in individuals with structurally normal hearts.", "related-disorders": "Symptoms of the following disorders can be similar to those of Brugada syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from patient to patient. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Romano-Ward syndrome is inherited as an autosomal dominant trait. One type of Romano-Ward syndrome called long QT syndrome type 3 (LQT3) is caused by abnormalities in the SCN5A gene; therefore, LQT3 and Brugada syndrome may be different types of the same disorder. (For more information on this disorder, choose Romano-Ward as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:131", "name_zh": "布-加综合征", "Name": "Budd Chiari Syndrome", "disease_name": "Budd Chiari Syndrome", "synonyms": "Budd's Syndrome", "disease-overview": "Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be associated with the disorder include nausea, vomiting, and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from case to case, depending upon the site and number of affected veins. In some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension) may be present. In most cases, the exact cause of Budd-Chiari syndrome is unknown.", "symptoms": "Budd-Chiari syndrome involves obstruction or narrowing (occlusion) of the outflowing veins from either large regions of the liver or the entire liver. Blood clots or congenital webbing occur at the junction of these vessels with the large vein that carries the blood from the lower part of the body (inferior vena cava) to the right upper chamber (atrium) of the heart. This syndrome may begin gradually or abruptly.", "causes": "The exact cause of approximately 70% of all cases of Budd-Chiari syndrome is unknown. Approximately 10% of individuals with Budd-Chiari syndrome have polycythemia vera. (For more information on this disorder, see the Related Disorders section of this report.)", "affected": "Budd-Chiari syndrome affects males and females in equal numbers. Most cases tend to affect individuals between the ages of twenty and forty.", "related-disorders": "Symptoms of the following disorders can be similar to those of Budd-Chiari syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lesions of the Hepatic (liver) Artery. Hepatic artery blockage (occlusion) is usually caused by clotting (thrombosis/embolism) or surgical ligation. The blockage may result in the destruction of tissue in the liver. However, the outcome is unpredictable since each individual reacts to these situations differently. Ballooning of the vessel wall (aneurysm) of the hepatic artery can occur as a result of infection, arteriosclerosis, trauma, or other disorders. Aneurysms are often multiple and tend to rupture into the abdominal cavity (peritoneum), common bile duct, or adjacent hollow organs. The ruptured hepatic artery aneurysm can cause upper abdominal colic, obstructive jaundice, or gastrointestinal (GI) tract bleeding (hemorrhage). Early surgery on the hepatic artery aneurysm is recommended to avoid complications.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36258", "name_zh": "Buerger病", "Name": "Buerger disease", "disease_name": "Buerger Disease", "synonyms": "Inflammatory Occlusive Peripheral Vascular Disease", "disease-overview": "Buerger’s disease, also known as thromboangiitis obliterans, is a rare disorder that, in most cases, affects young or middle-aged male cigarette smokers. It is characterized by narrowing or blockage (occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are affected more often than the arms. In most cases, the first symptom is extreme pain of the lower arms and legs while at rest. Affected individuals may also experience cramping in the legs when they walk that, in rare cases, may cause limping (claudication). In addition, affected individuals may have sores (ulcers) on the extremities, numbness and tingling and a lack of normal blood flow to the fingers and/or toes when exposed to cold temperatures (Raynaud’s phenomenon), and/or inflammation and clotting of certain veins (thrombophlebitis). In severe cases, individuals with Buerger’s disease may exhibit tissue death (gangrene) of affected limbs. The exact cause of Buerger’s disease is not known; however, most affected individuals are heavy tobacco users.", "symptoms": "Buerger’s disease is characterized by narrowing or blockage (occlusion) of the intermediate and/or small sized arteries and veins of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). Buerger’s disease tends to occur in sudden (acute) episodes that may last from one to four weeks. The disorder runs a recurrent course.", "causes": "The exact cause of Buerger’s disease is unknown.  However, the use of tobacco is associated with the development of the disorder. In fact, most researchers believe that past or present use of tobacco products by an individual is a requirement for the diagnosis of Buerger’s disease.  The exact relationship tobacco products have with Buerger’s disease is not completely understood.", "affected": "Buerger’s disease is a very rare disorder that, in most cases, affects young or middle-aged male cigarette smokers with onset of symptoms before 40-45 years of age. In recent years, more affected women have been reported in the medical literature. Some scientists have speculated that this is due to an increase in the amount of women who smoke. At one time the ratio of affected men to women was 100:1, recent articles in the medical literature have speculated that ratio may be 10:1 or closer. In extremely rare cases, individuals who do not smoke have developed Buerger’s disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of Buerger’s disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of Buerger's disease may be made based upon the identification of characteristic physical features and symptoms. Many physicians require a history of recent or current tobacco use in a diagnosis of Buerger's disease. A test such as an angiography or noninvasive techniques may be used to confirm a diagnosis. During an angiography, injection of a specialized dye is used to make the blood vessels visible on x-rays.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:703", "name_zh": "大疱性类天疱疮", "Name": "Bullous Pemphigoid", "disease_name": "Bullous Pemphigoid", "synonyms": "pemphigoid", "disease-overview": "Bullous pemphigoid (BP) is a rare, autoimmune, chronic skin disorder characterized by blistering, urticarial lesions (hives) and itching. Less commonly these blisters can involve the mucous membranes including the eyes, oral mucosa, esophagus and genital mucosa.  It typically presents in older adults as a generalized intensely itchy blistering skin condition.", "symptoms": "The first symptom of BP is usually redness and itching of the skin. Within weeks to months, thin-walled, tense blisters with clear fluid centers (bullae) appear on the arms and legs (flexor surfaces), in the armpits (axillae), on the abdomen, and/or in the skinfolds of the groin. Mucous membranes may also be involved but are less commonly seen than skin blisters.", "causes": "Bullous pemphigoid is an autoimmune blistering disease. Autoimmune disorders are generated when the body’s natural defenses against foreign or invading organisms, attack healthy tissue for unknown reasons. In BP, an autoantibody binds to a component of the skin that holds the dermis and epidermis together, causing separation of these two layers, thus forming a blister. The autoantibodies recognize components of the basement membrane zone called BP antigen 1 and 2 (and in some cases other basement membrane zone antigens). These proteins are part of complexes that hold the skin together, called hemidesmosomes, and provide structural support to the skin. When the body attacks these proteins, the skin becomes more fragile and the clinical manifestations of BP become apparent.", "affected": "BP is a rare disorder that affects males and females in equal numbers. This disorder primarily affects the elderly, with an average age around 80 years old. Rare cases have been reported in infants and adolescents.", "related-disorders": "Symptoms of the following disorders can be similar to those of BP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pemphigus is a general term for a group of rare autoimmune blistering skin disorders. All forms of pemphigus are characterized by the development of blistering eruptions on the outer layer of the skin (epidermis). The blisters that occur in pemphigus may be referred to as flaccid bullae because they are not firm and break open (rupture) easily. In pemphigus vulgaris, lesions develop on the mucous membranes such as those lining the inside the mouth. Mucous membranes are the thin, moist coverings of many of the body’s internal surfaces. Pemphigus is also an autoimmune blistering condition similar to BP but with different target antigens in the skin (desmoglein 1 and 3) (For more information on this disorder, choose pemphigus as your search term on the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:127", "name_zh": "Borjeson-Forssman-Lehmann综合征", "Name": "Borjeson-Forssman-Lehmann syndrome", "disease_name": "Börjeson-Forssman-Lehman Syndrome", "synonyms": "BFLS", "disease-overview": "Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones (hypogonadism), and distinctive facial features. Affected infants often experience delays in reaching developmental milestones. The exact symptoms vary from case to case, even among members of the same family. BFLS is caused by disruptions or changes (mutations) of the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males. Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome).", "symptoms": "Börjeson-Forssman-Lehmann syndrome has been considered to be fully expressed only in males given the X-chromosome localization of the responsible gene (see below). However, there have been several reports of affected females with the syndrome. Generally, the symptoms of females vary dramatically, from no clinical presentations to fully affected status. The symptoms associated with BFLS are variable even in males and even in individuals of the same family.", "causes": "Börjeson-Forssman-Lehmann syndrome is caused by a mutation of the plant homeodomain finger protein 6 (PHF6) gene. This mutation is inherited as an X-linked recessive trait. The gene PHF6 contains instructions (encodes) for creating a specific type of protein. One of the functions of this protein is to prevent cancer at least in some blood cells (T-lymphocytes important in immunity), but the other functions are not that well understood. More recent findings suggest that PHF6 protein is important for movement (migration) and function of neurons in the brain.", "affected": "Börjeson-Forssman-Lehmann syndrome is a rare disorder that can be fully expressed in males as well as in females. The phenotypic expression in females is highly variable and cannot yet be predicted. BFLS was originally described in the medical literature in 1962 in three related males as well as three of their more mildly affected female relatives. The exact incidence of BFLS is unknown, but with the identification of singleton affected females we assume it is underascertained. Approximately 40 unrelated families and various isolated cases (males and a growing number of females) have been reported in the medical literature with mutations in the PHF6 gene. However, it is plausible to speculate that the real number of individuals with PHF6 mutation is higher as many, even diagnosed cases are not reported and thus not captured.", "related-disorders": "Symptoms of the following disorders can be similar to those of Börjeson-Forssman-Lehmann syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Börjeson-Forssman-Lehmann syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic features. X-rays of the skeletal (skeletal radiography) may be used to detect the presence and assess the severity of potential skeletal defects and support a diagnosis of BFLS. Molecular genetic testing for mutations in the PHF6 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1308", "name_zh": "C综合征", "Name": "C syndrome", "disease_name": "C Syndrome", "synonyms": "Opitz trigonocephaly syndrome", "disease-overview": "", "symptoms": "One of the major features of OTCS is a condition in which the skull is a triangular shape. This occurs due to premature closure of the bones (trigonocephaly or prominent metopic suture due to its premature fusion). Patients with this disorder also have a distinct face in which the nasal bridge is broad with a short nose, there are vertical folds over the inner corners of the eyes (epicanthus) and paralysis of facial muscles (facial palsy). These children may have abnormalities of the outer ear, crossed eyes (strabismus), thin upper lip, smooth vertical groove between the base of the nose and the border of the upper lip (philtrum),an undersized jaw (micrognathia), a short neck and loose skin. Additional characteristics can include abnormalities of the breastbone (sternum), webbed fingers and/or toes (syndactyly), short limbs, heart, pancreas, kidney and lung abnormalities and failure of one or both testicles to move down into the scrotum (cryptorchidism).", "causes": "There is no common genetic cause for OTCS. Recent research has found that changes (mutations) in specific genes could be associated with this condition: MAGEL2, FOXP1, IFT140 and ASXL3.", "affected": "Only about 60 patients with OTCS have been reported in the world’s medical literature. OTCS is a very rare disorder that seems to affect males and females in equal numbers. The prevalence is between 1/800,000 and 1/1,000,000.", "related-disorders": "Symptoms of the following condition can be similar to those of OTCS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Bohring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that affects growth, development, and variable organ-systems. Individuals with BOS often have severe growth restriction and are therefore quite small; they may have feeding difficulties, characteristic facial features, and the presence of a red or pink birthmark (nevus flammeus) on the forehead or eyelids. Individuals may also have seizures, heart anomalies, and a characteristic ‘BOS posture’ where the elbows are bent and wrists angle outwards. Additional abnormalities may include a smaller than average head size (microcephaly), a visible ridge over the forehead (metopic ridge), a cleft lip and/or palate, eye abnormalities, recurrent infections, and pauses during breathing while asleep (sleep apnea), as well as sleep difficulties. Children with BOS may have varying degrees of learning differences, but these are generally severe, and most children do not learn to talk or walk. BOS is caused by mutations in the ASXL1, ASXL2, and KLHL7 genes. (For more information, search for Bohring-Opitz syndrome in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:136", "name_zh": "常染色体显性大脑动脉病-皮质下梗死-脑白质病", "Name": "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy", "disease_name": "CADASIL", "synonyms": "cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy", "disease-overview": "CADASIL is a rare genetic disorder affecting the small blood vessels in the brain. The term CADASIL was first coined in 1993. The age of onset, severity, specific symptoms and disease progression varies greatly from one person to another, even among members of the same family. CADASIL is an acronym that stands for:", "symptoms": "Hallmark symptoms of CADASIL may include: 1) recurrent strokes, 2) cognitive impairment, 3) migraine with aura, and 4) psychiatric disturbances. These symptoms are caused by damage to small blood vessels, especially those within the brain. The specific symptoms and severity of the disorder can vary greatly among affected individuals, even among members of the same family.", "causes": "CADASIL is caused by changes (mutations) in the NOTCH3 gene. The NOTCH3 gene contains instructions to create a protein that is predominantly expressed in smooth muscle cells in the walls of small arteries. Mutations in the NOTCH3 gene result in abnormal accumulation of this protein at the surface of smooth muscle cells. Ultimately, NOTCH3 mutations lead to progressive damage to the small blood vessels in the brain, premature destruction of smooth muscle cells, and narrowing of the lumen and thickening the vessel wall of the small blood vessels. Microscopic protein accumulations of debris called granular osmiophilic material (GOM) accumulate in blood vessels of CADASIL patients.  As a consequence of these changes, there is reduction of blood flow to the brain causing small strokes (or lacunes), small bleeds (microbleeds), dilated spaces surrounded the vessels (dilated perivascular spaces) and tissue loss in the surface of the brain (cortex) as well underneath the cortex (subcortical region).", "affected": "CADASIL affects males and females in equal numbers. The disorder is found worldwide and affects all races. The disease affects approximately 2 to 5 of 100,000 people. Research suggests that the disorder often goes undiagnosed or misdiagnosed making it difficult to determine the true frequency of CADASIL in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of CADASIL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CADASIL is suspected based on symptoms, family history, and brain MRI lesions compatible with the disease. Although MRI can identify characteristic changes in the brains of individuals with CADASIL, such changes are not unique to CADASIL and can occur with other disorders. As such, the CADASIL diagnosis can only be confirmed by DNA testing of blood samples for characteristic mutations in the NOTCH3 gene or by identifying granular osmiophilic material (GOM) inclusions on a skin biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:140", "name_zh": "躯干发育异常", "Name": "Campomelic Syndrome", "disease_name": "Campomelic Syndrome", "synonyms": "Acampomelic campomelic \"Dysplasia\"", "disease-overview": "Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and incomplete development of genitalia in males such that they appear to be females.", "symptoms": "Campomelic syndrome is a rare form of skeletal dysplasia characterized by bowing and an angular shape of the long bones of the legs.  Eleven sets of ribs instead of the usual twelve may be present.  The pelvis and shoulder blade may be underdeveloped.   The skull may be large, long and narrow.  The face may appear flat with forward tilting nostrils, high forehead, small chin, and cleft palate.  Babies may regurgitate formula through the nose, are susceptible to middle ear infections and frequently experience respiratory distress.", "causes": "Campomelic syndrome was once thought to be inherited as an autosomal recessive genetic trait but this is no longer thought to be true.  Molecular genetic research has shown that a change (mutation) in a single copy of the SOX9 gene on chromosome 17 or disturbance in the regulation of this gene causes campomelic syndrome.  The regulation of the SOX9 gene is sometimes disturbed by a rearrangement of genes on chromosome 17 (translocation).  It is now believed that campomelic syndrome is inherited as an autosomal dominant trait.  Some families have been reported in which multiple children are affected but both parents are unaffected.  This may be due to one parent having a mixture of sperm or egg cells with normal and abnormal SOX9 genes (gonadal mosaicism).  As a result, one or more of this parent’s children may inherit the gene mutation and exhibit the disorder even though the parent has no apparent symptoms.", "affected": "Campomelic syndrome is a rare disorder that is thought to affect females twice as often as males.  These numbers may not be accurate as some patients with this disorder have associated sex reversal and have been mistakenly identified as the opposite sex.  Approximately one hundred cases of this disorder have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of campomelic syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Achondroplasia is a rare musculoskeletal disorder belonging to a group of congenital abnormalities known as the chondrodystrophies. The chondrodystrophies are disorders that affect the manner in which cartilage is converted into bone.  Acondroplasia is characterized by short-limbed dwarfism along with curvature of the spine and abnormalities of the skull.  (For more information on this disorder, choose Achondroplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1515", "name_zh": "颅骨外胚层发育不良", "Name": "Cranioectodermal dysplasia", "disease_name": "Camurati-Engelmann Disease", "synonyms": "CED", "disease-overview": "", "symptoms": "The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. The individual may also present with abnormally long limbs in proportion to the height of their body, a decrease in muscle mass and body fat, visible prominence of the long bones in the legs, and rarely delayed puberty. While the first signs and symptoms can appear at varying ages, most appear during childhood or adolescence.", "causes": "CED is caused by mutations in TGFB1 which encodes transforming growth factor beta-1 protein. This protein helps control the growth and proliferation of cells, the process by which the cells mature and begin to specify (differentiate), cell movement, and cell directed self-destruction (apoptosis). The specific protein plays a huge role during prenatal development in the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. The protein is most abundant in skeletal tissue and the extracellular matrix that provides structural support and nutrients to the surrounding cells.", "affected": "The prevalence of CED is unknown; more than 300affected people have been reported worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of CED. For more information on these disorders, enter the disease name as your search term in the Rare Disease Database.", "diagnosis": "The diagnosis of CED is based on a physical examination after an individual presents with limb pain and weakness. Imaging studies such as X-rays show thickening of the long bones which can initially be asymmetric, but progresses to become bilateral and symmetric. The bones involved are usually the femur, tibia, fibula, humerus, radius, ulna, and the skull base. Molecular genetic testing for mutations in TGFB1 is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:23", "name_zh": "精氨基琥珀酸尿", "Name": "Argininosuccinic aciduria", "disease_name": "Canavan Disease", "synonyms": "ASPA deficiency", "disease-overview": "Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age. Symptoms may include an abnormally large head (macrocephaly), lack of head control, severely diminished muscle tone resulting in floppiness, and delays in reaching developmental milestones such as independent sitting and walking. Most affected children develop life-threatening complications by 10 years of age. Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene that affects the breakdown (metabolism) of the N-acetylaspartic acid (NNA). It is inherited as an autosomal recessive condition.", "symptoms": "The symptoms and progression of Canavan disease varies from case to case. The disorder usually becomes apparent between 3 and 6 months of age and the initial symptoms usually include extremely poor head control, an abnormally large head (macrocepahly), and severely diminished muscle tone (hypotonia) resulting in floppiness. Affected infants may be generally unresponsive (apathetic), lethargic or irritable. Some infants may experience difficulty swallowing (dysphagia), which contributes to feeding difficulties.", "causes": "Canavan disease is caused by disruptions or changes (mutations) to the aspartoacylase (ASPA) gene. This mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Canavan disease affects males and females in equal numbers. It affects all ethnic groups, but occurs with greater frequency in individuals of Ashkenazi Jewish descent. In this population, the carrier frequency is estimated to be as high as one in 40-58 people. The risk for an affected child born to Ashkenazi Jewish parents is between 1 and 6,400 and 1 in 13,456. The carrier frequency in other populations is not known, but most likely far lower. The overall incidence of Canavan disease in the general population is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of Canavan disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Canavan disease may be suspected in infants with the characteristic findings of the disorder (e.g., poor head control, macrocephaly, etc.). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. Such tests may include may include gas chromatography-mass spectrometry, a device that can detect elevated levels of NAA in the urine. Elevated levels of NAA can also be detected in the blood and cerebrospinal fluid (CSF). Examination of certain connective tissue cells from the skin (cultured fibroblasts) can reveal deficiency of the enzyme aspartoacylase. Aspartoacylase activity is also absent in white blood cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:199354", "name_zh": "常染色体隐性型脑动脉病，伴皮质下梗死和白质脑病", "Name": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy", "disease_name": "CARASIL", "synonyms": "cerebral autosomal recessive arteriopathy w/subcortical infarcts and leukoencephalopathy", "disease-overview": "Classic CARASIL is a rare genetic disorder that is characterized by damage to the small blood vessels in the brain. Individuals with CARASIL are at risk of developing multiple strokes, even if they do not have cardiovascular risk factors. The symptoms of CARASIL result from damage to various small blood vessels, especially those within the brain. Individuals with CARASIL may develop a variety of symptoms relating to white matter involvement or changes in deep white matter in the brain (leukoaraiosis), which are observed on MRI or CT). Such symptoms include an increasing muscle tone (spasticity), pyramidal signs and pseudobulbar palsy. Pseudobulbar palsy is a group of neurologic symptoms that includes difficulty with chewing, swallowing and speech. Eventually, gait disturbance and dementia may result. About a third of patients have stroke-like episodes. The age of onset is between 20 to 50 years old. CARASIL is an acronym that stands for:", "symptoms": "The cerebral symptoms of CARASIL are caused by damage to cerebral small blood vessels. The specific symptoms and severity of the disorder can vary greatly among affected individuals. Onset of the disorder is usually in early adulthood but may range from the early 20s to the mid-40s. CARASIL is often rapidly progressive.", "causes": "CARASIL is caused by changes (pathogenic variants or mutations) of the HTRA1 gene. CARASIL is inherited as an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a mutated gene from each parent. If an individual receives one normal gene and one mutated gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.", "affected": "Classic CARASIL is extremely rare and is more common in Asians but has also been reported in Caucasian populations. Equal numbers of males and females are affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of CARASIL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CARASIL should be suspected in individuals with early onset changes in deep white matter in the brain (leukoaraiosis), alopecia in the teens or the twenties and acute lower back pain (lumbago) with spondylosis. However, some patients do not have these symptoms. Diagnosis of CARASIL is based on these characteristic symptoms, a detailed history, thorough clinical evaluation and a variety of tests, including special imaging techniques. Imaging may include magnetic resonance imaging (MRI), which uses magnetic fields and radio waves to produce cross-sectional images of specific organs and body tissues, including the brain MRI can identify characteristic changes in the brain of CARASIL patients with CADASIL, including bilateral lesions in the anterior temporal regions, external capsule, and spinocerebellar tract CARASIL patients may have a characteristic change in the brainstem called the Ark sign.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:147", "name_zh": "氨甲酰磷酸合成酶Ⅰ缺乏", "Name": "Carbamoyl-phosphate synthetase 1 deficiency", "disease_name": "Carbamoyl Phosphate Synthetase 1 Deficiency", "synonyms": "carbamoylphosphatase deficiency I", "disease-overview": "Carbamoyl phosphate synthetase 1 deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected children may experience vomiting, refusal to eat, progressive lethargy, and coma. CPSID is inherited as an autosomal recessive genetic disorder.", "symptoms": "CPSID may be associated with complete or partial absence of the CPS enzyme.  Complete lack of the CPS enzyme results in the severe form of the disorder, in which symptoms occur shortly after birth (neonatal period). Partial lack of the CPS enzyme results in a milder form of the disorder that can occur at any time during the life of the patient.", "causes": "CPSID is inherited as an autosomal recessive genetic disorder and is caused by mutations in the CPSI gene.  Mutations in the CPSI gene result in production of an abnormal carbamoyl phosphate synthetase enzyme.", "affected": "The estimated frequency of CPSID is 1 in 150-200,000 births. The estimated frequency of urea cycle disorders collectively is one in 30,000.  However, because urea cycle disorders like CPSID often go unrecognized, these disorders are under-diagnosed, making it difficult to determine the true frequency of urea cycle disorders in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of CPSID Comparisons may be useful for a differential diagnosis:", "diagnosis": "The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures, and/or coma. The liver may be abnormally enlarged (hepatomegaly). In some cases, life-threatening complications may result. In addition to CPS deficiency, the other urea cycle disorders are: argininosuccinic acid synthetase deficiency (citrullinemia type 1); argininosuccinase acid lyase deficiency; ornithine transcarbamylase (OTC) deficiency; arginase deficiency and N-acetylglutamate synthetase (NAGS) deficiency. Disorders in transport in the urea cycle (citrin deficiency or citrullinemia type 2 and ornithine transport) will also present with similar symptoms in severe forms(For more information on these disorders, choose the specific disorder name as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:100093", "name_zh": "类癌综合征", "Name": "Carcinoid syndrome", "disease_name": "Carcinoid Syndrome", "synonyms": "carcinoid apudoma", "disease-overview": "Carcinoid syndrome is a disease consisting of a combination of symptoms, physical manifestations, and abnormal laboratory findings. Carcinoid syndrome is seen in individuals who have an underlying carcinoid tumour with spread to the liver. Carcinoid tumors are well-differentiated neuroendocrine tumours with secretory properties, releasing serotonin, along with a number of other active peptides. These tumors can arise anywhere along the primitive gut and are therefore found in the bronchial tree (airways) and along the gastrointestinal tract. The tumor cells can also migrate (metastasize) to the liver.", "symptoms": "Symptoms may be non-hormonal, secondary to tumor bulk and therefore depend on location; or hormonal as a result of carcinoid syndrome. Those caused by the tumour may include abdominal pain, anemia, pneumonia, cough and haemoptysis (cough productive of blood). Carcinoid tumors can also be present without producing any symptoms and may often go undetected for a long period of time.", "causes": "The underlying cause of carcinoid tumors remains unclear. Some studies have suggested risk factors such as smoking and dietary intake, however, further research is needed to confirm these findings. In the majority of cases tumors are slow-growing and can produce hormonal chemical substances such as serotonin, bradykinins, tachykinins and prostaglandins. If the original carcinoid cells spread (metastasize) to the liver, these substances are no longer broken down to their inactive form and are released into the systemic (main) circulation, causing the signs and symptoms of carcinoid syndrome. When tumors affect organs other than the gastrointestinal tract, such as the ovaries, carcinoid syndrome can occur in the absence of liver metastases.", "affected": "Carcinoid tumors are rare, with only 27 new cases per million diagnosed in the U.S. per year. Of these, only about 10% will develop carcinoid syndrome. The syndrome affects males and females in equal numbers. All races can be affected though there is a slightly increased prevalence in black African males. All ages can be affected but most gastrointestinal cases occur in middle-age. Bronchial (airway) tumors are most often seen in the fifth decade but can affect people at any age. Carcinoid syndrome may be more prevalent than suspected because diagnosis is difficult and sometimes overlooked; some patients may not exhibit all three of the hallmark symptoms of flushing, wheezing, and diarrhea.", "related-disorders": "Symptoms of the following disorders can be similar to those of carcinoid syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multiple endocrine neoplasia (MEN) type 1 is a rare genetic disorder in which benign (noncancerous) tumors arise from the cells of various glands of the endocrine system. The endocrine system is the network of glands that secrete hormones into the bloodstream where they travel to various areas of the body. These hormones regulate the chemical processes (metabolism) that influence the function of various organs and activities within the body. Hormones are involved in numerous vital processes including regulating heart rate, body temperature and blood pressure as well as cell differentiation and growth and also in modulation of several metabolic processes. In individuals with MEN type 1, benign tumors develop in multiple endocrine glands, most often the parathyroid, pancreas and pituitary glands. These affected glands secrete excessive amounts of hormones into the bloodstream, which can result in a variety of symptoms. Some benign tumors associated with MEN type 1 can become malignant (cancerous). MEN type 1 can run in families or can occur as the result of a spontaneous new gene mutation in the affected person.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:457088", "name_zh": "CARD9缺陷导致侵袭性真菌感染易感", "Name": "CARD9 Deficiency", "disease_name": "CARD9 Deficiency", "synonyms": "", "disease-overview": "", "symptoms": "The signs and symptoms (or manifestations) of CARD9 deficiency appear quite varied.", "causes": "CARD9 deficiency is caused by mutations in the CARD9 gene. This gene is responsible for production of the CARD9 protein which is normally expressed by only two specific types of white blood cells: neutrophils and monocytes (monocytes in the blood become macrophages once they go into tissues). In CARD9 deficiency, the CARD9 protein is abnormal, and both of these types of cells (neutrophils and monocytes/macrophages) have difficulty responding to fungus, which allows one of the above fungal diseases to develop.", "affected": "CARD9 deficiency affects males and females in apparently equal numbers and has been reported all over the world. However, the exact frequency of this condition in the general population is unknown. It may be relatively more frequently found in some parts of the world because of a local founder effect. A founder effect occurs in history when a new population is established by a very small number of individuals; over generations, carriers may become more common, allowing two carriers to have children, who are then affected.", "related-disorders": "The invasive fungal disease that is seen in CARD9 deficiency can also occur in other primary immunodeficiencies. For example, in chronic granulomatous disease (CGD), where the ability of white blood cells to produce a respiratory burst does not work properly, those patients can get infections with certain fungi. Also, patients with genetic mutations in the pathway that control the interleukin(IL)-12/Interferon-gamma pathway can also get invasive infections with certain molds.", "diagnosis": "A diagnosis of CARD9 deficiency is suspected based upon a thorough clinical evaluation, a detailed patient history, particularly one in which there is invasive fungal infection without any of the typical risk factors listed above, and a variety of blood tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1340", "name_zh": "心面皮肤综合征", "Name": "Cardiofaciocutaneous syndrome", "disease_name": "Cardiofaciocutaneous Syndrome", "synonyms": "cardio-facial-cutaneous syndrome", "disease-overview": "", "symptoms": "Most individuals are initially referred because of feeding difficulties (poor suck) and failure to thrive. Later, cognitive developmental delay and other clinical manifestations may be observed.", "causes": "CFC syndrome is a dominant genetic disorder caused by an abnormality (mutation) in one of four genes: BRAF (~75%), MAP2K1 (MEK1), MAP2K2 (MEK2) (~25%) and KRAS (<2%). These genes are part of a pathway called Ras/Mitogen-activated protein kinase (MAPK) that is important in cell growth and cell division. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC.", "affected": "Currently, there is no study providing an accurate estimate of the population prevalence of CFC syndrome. However one study in Japan, reported the incidence to be approximately 1 in 810,000. It is thought that males and females are affected equally. There are patients are reported from all continents. The number of affected individuals reported in the medical literature is now close to 400 and the total number worldwide is estimated to be more than this. This may be an underestimate, however, because mildly affected adults may go undiagnosed.", "related-disorders": "Symptoms of the following disorders may be similar to those of Cardiofaciocutaneous syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Noonan syndrome, a common genetic disorder occurring in approximately 1 in 2500 individuals, is another RASopathy. It is characterized by a distinctive facial appearance similar to that seen in children with CFC syndrome, such as webbing of the neck, short stature, characteristic abnormalities of the chest, congenital heart defects, and/or other abnormalities. In individuals with the disorder, malformations of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); downwardly slanting eyelid folds (palpebral fissures); drooping of the upper eyelids (ptosis) or unusually thick, hooded eyelids; a prominent upper lip; and/or low-set, prominent external ears (pinnae) that are abnormally rotated toward the back of the head (posteriorly angulated).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1359", "name_zh": "Carney综合征", "Name": "Carney complex", "disease_name": "Carney Comple", "synonyms": "Carney syndrome", "disease-overview": "Carney complex is a rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin and endocrine system and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas. Benign tumors of connective tissue (myxomas) are common in individuals with Carney complex and, most often, are found in the heart where they can potentially cause serious, life-threatening complications including stroke, valvular obstruction or heart failure. A wide variety of endocrine abnormalities potentially can occur in Carney complex affecting a variety of glands. Additional tumors include myxomas affecting the skin and nerve sheath tumors (schwannomas). Skin pigment abnormalities include tiny flat (freckle-like) black or brown spots (multiple lentigines) and small, blue or bluish-black spots (blue nevi). The specific symptoms and severity of Carney complex can vary greatly from one person to another. In many cases, Carney complex is due to mutations of the PRKAR1A gene. The mutation can occur randomly for no apparent reason (i.e., new mutation) or be inherited as an autosomal dominant trait.", "symptoms": "The symptoms and severity of Carney complex can vary greatly from one person to another, even among members of the same family. The disorder may be evident at birth, but the median age of diagnosis is 20. Many of the signs and symptoms of Carney complex become apparent during the teen-age years or during early adulthood.", "causes": "Some cases of Carney complex occur due to mutations of the PRKAR1A gene. This mutation may occur randomly for no apparent reason (i.e., new mutation) with no family history or be inherited as an autosomal dominant trait. The majority of cases of Carney complex have occurred in individuals with a family history of the disorder.", "affected": "Carney complex affects males and females in equal numbers. Approximately 600 affected individuals have been reported since the disorder was first described in the medical literature in 1985. The disorder can present at any age, but the mean age at diagnosis is 20.", "related-disorders": "Symptoms of the following disorders can be similar to those of Carney complex. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Carney complex is made based upon a detailed patient history, a thorough clinical evaluation, a variety of specialized tests and identification of characteristic symptoms. According to the medical literature, identification of two or more of the following symptoms in typical fashion is indicative of Carney complex: cardiac myxoma: skin myxoma; lentiginosis; multiple blue nevi; primary pigmented nodular adrenocortical disease (PPNAD); testicular tumors; acromegaly; thyroid tumors, melanotic schwannoma; or an osteochondromyxoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:156", "name_zh": "肉毒碱棕榈酰转移酶IA缺乏症", "Name": "Carnitine palmitoyl transferase 1A deficiency", "disease_name": "Carnitine Palmitoyltransferase 1A Deficiency", "synonyms": "CPT 1A deficiency", "disease-overview": "", "symptoms": "CPT1A deficiency in a developing baby can cause abnormal findings during pregnancy, including maternal fatty liver, low blood sugar (hypoglycemia), abnormal liver enzymes, high amounts of ammonia (hyperammonenmia), and increased susceptibility to bleeding due to abnormal liver function.", "causes": "CPT1A deficiency is caused by harmful changes (mutations) in the CPT1A gene that codes for the carnitine palmitoyltransferase 1 enzyme. This enzyme breaks down long fatty acids. If fats cannot be properly processed, then energy production is decreased.", "affected": "CPT1A deficiency has been reported in approximately 60 individuals. The incidence of this condition may be higher in the Hutterite populations in the northern United States and Canada and the Inuit populations in northern Canada, Alaska and Greenland. This condition occurs in both males and females equally.", "related-disorders": "CPT1A deficiency belongs to a category of conditions called fatty acid oxidation disorders (FODs), in which the body cannot properly break down fatty acids to create energy in the body. The fats that are not broken down cannot be used for energy, and the increased fat by-products can become toxic and cause problems in the body. Other FODs can have similar symptoms to CPT1A deficiency such as:", "diagnosis": "CPT1A deficiency can be diagnosed by using genetic testing to find two mutations in the CPT1A gene. Additionally, the level of carnitine palmitoyltransferase 1 (CPT1) enzyme can be measured from skin cells. Other laboratory findings can support this diagnosis, including low levels of ketones, elevated liver enzymes, elevated ammonia, and elevated carnitine in blood. Some state newborn screening programs perform screening for CPT1A deficiency by measuring the ratio of free to total carnitine in blood plasma or serum.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2168", "name_zh": "高肌肽病", "Name": "Homocarnosinosis", "disease_name": "Carnosinemia", "synonyms": "carnosinase deficiency", "disease-overview": "Carnosinemia is a very rare inherited metabolic disorder characterized by developmental delays and seizures. Symptoms can begin during infancy and may include drowsiness, seizures that may be accompanied by involuntary jerking muscle movements of the arms, legs, or head (myoclonic seizures), and intellectual disability.", "symptoms": "The symptoms of carnosinemia include extreme drowsiness and seizures that can occur in children under the age of one year. Slow growth, low muscle tone, motor delays, and delayed intellectual development also occur in children with this disorder. Seizures may be accompanied by myoclonic seizures. By approximately 2 years of age, affected children show variable degrees of intellectual deficit leading to intellectual disabilities and developmental regression. Some affected children also have muscle weakness (congenital myopathy). Electroencephalogram (EEG), a test that detects electrical activity in the brain, may be abnormal.  A few patients reported with this condition have few or no symptoms.", "causes": "The exact nature of the biochemical abnormality that causes carnosinemia is not clear, but carnosinase, the enzyme responsible for carnosine breakdown, is known to be present in the brain, as well as the blood. Studies of muscle tissue from affected individuals suggest that the metabolism of two dipeptides present in meats, carnosine and anserine, by the enzyme carnosinase, is abnormal. The role of the enzyme carnosinase is to break down carnosine into two basic elements. Affected individuals usually have abnormally high levels of carnosine in their urine (carnosinuria) and abnormally low levels of the enzyme carnosinase in their blood.", "affected": "Carnosinemia is a very rare disorder that affects males and females in equal numbers. Approximately 30 individuals with carnosinemia have been reported in the medical literature world-wide.", "related-disorders": "Symptoms of the following disorder can be similar to those of carnosinemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Gamma-amino butyric acid (GABA) transaminase deficiency is an extremely rare autosomal recessive genetic disorder caused by mutations in the ABAT gene. Symptoms can include slow growth, motor delays, low muscle tone, hyperactive responses, lethargy, seizures, and abnormalities on an EEG.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:53035", "name_zh": "Caroli病", "Name": "Caroli Disease", "disease_name": "Caroli Disease", "synonyms": "congenital dilatation of intrahepatic bile duct", "disease-overview": "", "symptoms": "Bile needs to be able to move through the bile ducts without getting stuck. When these ducts become too wide, bile can collect easily. As bile collects over time, the build-up can cause small stones to form. These small stones usually do not cause symptoms unless they block the bile duct. When a bile duct is blocked due to stones, the bile ducts become swollen (cholangitis). This can cause pain on the right side of the body, vomiting, fever, and yellowing of the skin (jaundice). People with Caroli disease experience many episodes of cholangitis. Rarely, tumors called cholangiocarcinomas can form in the bile duct due to the build-up of bile. Usually, symptoms happen before the age of 30, but can happen at any age. Some people with Caroli disease may only have one episode of cholangitis, so it is important to understand how the disease impacts a person’s life.", "causes": "Caroli disease and Caroli syndrome are thought to be genetic conditions. Caroli disease usually occurs sporadically, but has been reported to follow autosomal dominant inheritance in some families.", "affected": "Caroli disease and Caroli syndrome can affect people of all ethnic and ancestral backgrounds. Symptoms typically start in adulthood, but can sometimes start in childhood. Caroli disease is rarer than Caroli syndrome, but it is estimated that 1 out of 1,000,000 individuals are affected by Caroli disease. Caroli syndrome has been estimated to affect 1 out of 100,000 individuals, but it is difficult to identify people with Caroli syndrome since features can overlap with other conditions.", "related-disorders": "Many conditions have similar symptoms to both Caroli disease and Caroli syndrome. It is important to know the conditions that could be confused for the two types of Caroli disease:", "diagnosis": "Based on symptoms, imaging may be done to see if there are any problems with the liver or bile ducts.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:65759", "name_zh": "Carpenter综合征", "Name": "Carpenter syndrome", "disease_name": "Carpenter Syndrome", "synonyms": "ACPS II", "disease-overview": "Carpenter syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). Carpenter syndrome is also known as ACPS type II.", "symptoms": "Primary findings associated with Carpenter syndrome include premature closure of the fibrous joints (cranial sutures) between particular bones in the skull (craniosynostosis), characteristic facial abnormalities, and/or malformations of the fingers and toes (digits). However, associated features may vary in range and severity from one person to another, even among affected members of the same family.", "causes": "In most instances Carpenter syndrome are caused by a mutation in the RAB23 gene. In a small subset of people, Carpenter syndrome is caused by a mutation in the MEGF8 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Carpenter syndrome appears to affect males and females in relatively equal numbers. More than 70 cases of the disorder have been recorded. In 10 patients that had sequence analysis for the disease causing gene, homozygosity (two copies) for the same nonsense mutation, (a change in the DNA that causes a change in the protein) was found. This is indicative of a founder effect in patients of northern European descent, which means that a high prevalence of a genetic disorder in an isolated or inbred population is due to the fact that many members of the population are derived from a common ancestor who had the disease causing mutation.", "related-disorders": "Symptoms of the following disorders may be similar to those of Carpenter syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pfeiffer syndrome is a rare genetic disorder characterized by abnormalities of the skull and facial (craniofacial) region and distinctive malformations of the fingers and toes (digits). Also known as acrocephalosyndactyly (ACS) type V, Pfeiffer syndrome is generally accepted to be the same disease entity as Noack syndrome (acrocephalopolysyndactyly [ACPS] type I). Researchers have described three major subtypes of Pfeiffer syndrome: i.e., Pfeiffer syndrome types I, II, and III. Findings that may be associated with all subtypes include premature closure of the fibrous joints between particular bones of the skull (craniosynostosis); unusually broad, deviating thumbs and great toes; and webbing or fusion (syndactyly) of certain fingers and toes. Pfeiffer syndrome may result from new (sporadic) genetic changes (mutations) or be inherited as an autosomal dominant trait. Evidence suggests that the disorder may be caused by specific mutations in a gene known as fibroblast growth factor receptor-2 (FGFR2) or another gene called fibroblast growth factor receptor-1 (FGFR1). Individuals with FGFR1 mutations usually have milder craniofacial features compared to those with FGFR2 mutations.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:160", "name_zh": "Castleman病", "Name": "Castleman disease", "disease_name": "Castleman Disease", "synonyms": "angiofollicular lymph node hyperplasia", "disease-overview": "Castleman disease describes a group of rare disorders with a wide range of symptoms. People with these conditions have enlarged lymph nodes that have a similar appearance when reviewed under the microscope. Castleman disease is first classified based on the number of regions of enlarged lymph nodes that have these abnormal features. Unicentric Castleman disease (UCD) involves a single enlarged lymph node or single region of enlarged lymph nodes whereas multicentric Castleman disease (MCD) involves multiple regions of enlarged lymph nodes. There are two subtypes of MCD. One subtype is caused by human herpesvirus-8 (HHV-8; also known as Kaposi sarcoma–associated herpesvirus). These cases are called HHV-8-associated MCD. The other subtype includes MCD patients who are negative for the HHV-8 virus, and the cause is unknown. These cases are called HHV-8 negative or idiopathic MCD (iMCD).", "symptoms": "The spectrum of disease symptoms and severity is very broad, ranging from gradual enlargement of lymph nodes with mild symptoms to sudden, intense onset of symptoms due to life-threatening organ dysfunction caused by elevated cytokines such as interleukin-6 (IL-6). Symptoms of Castleman disease often overlap with symptoms of other more common illnesses. A Castleman disease diagnosis can therefore only be made with a lymph node biopsy that shows characteristic Castleman disease features and when other illnesses have been evaluated and excluded.", "causes": "The exact cause of UCD and iMCD is not known. There are no known risk factors; there is no evidence of any food, lifestyle or environmental exposure associated with these diseases. There is no known report of a patient developing UCD or iMCD from contact with another individual with UCD or iMCD. Viruses, genetic mutations acquired over the course of life and inflammation have all been proposed as possible causes of UCD. Recent research suggests that acquired genetic mutations are the likely cause of UCD.", "affected": "UCD and iMCD affect males and females in equal numbers and there are no known factors that increase the risk of UCD or iMCD. HHV-8-associated MCD affects males at an increased rate compared to females. All types of Castleman disease may affect individuals of any age. Persons with HIV are at increased risk of developing HHV-8-associated MCD. It is estimated that there are approximately 4,300-5,200 cases of CD diagnosed each year in the United States.", "related-disorders": "Symptoms of the following disorder can be similar to those of Castleman disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hodgkin lymphoma is a form of cancer of the lymphatic system. Tumors occur in the lymph nodes and/or the areas around the nodes. Symptoms associated with this disorder may include fever, night sweats, weight loss and/or enlarged or swollen lymph nodes. The tumors occur most often in the chest, stomach or spleen. Hodgkin lymphoma is usually progressive and may spread to lymph nodes located in other areas of the body. The exact cause of Hodgkin lymphoma is not known. (For more information on this disorder, choose Hodgkin as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:195", "name_zh": "猫眼综合征", "Name": "Cat-eye syndrome", "disease_name": "Cat Eye Syndrome", "synonyms": "CES", "disease-overview": "Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, known as 22q. However, in individuals with CES, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy) rather than twice in cells of the body. In a small number of people with CES, the 22q11 region is present in 3 copies (partial trisomy).", "symptoms": "The classic symptoms associated with CES are ocular coloboma, anal atresia and the minor ear defect preauricular skin tags or pits (see below for explanations). However, the syndrome is extremely variable, and it has been estimated that only 41% of patients with CES have this classic triad of symptoms (Berends et al, 2001). In general the abnormalities associated with CES tend to involve the eyes, ears, anal region, heart, and/or kidneys, but other organs may show involvement and some people show intellectual disability.", "causes": "CES is a rare disorder associated with the presence of an extra chromosome fragment, in which the short arm (p) and a small portion of the long arm (q) of chromosome 22 are usually present in four copies (partial tetrasomy) rather than two copies in cells of the body. The diagnosis of CES is based on the presence of extra chromosomal material derived from chromosome 22, as described below.", "affected": "CES has been recognized for more than a century. More than 100 cases have been described in the medical literature, including apparently sporadic and familial cases. Many more affected individuals exist but have not been described in the medical literature. However, the syndrome is very rare, and currently there are no accurate estimates of the incidence of CES in the population. Schinzel et al (1981) estimated an incidence of approximately one in 50,000 to one in 150,000 individuals in Northeastern Switzerland. Because some affected individuals develop few associated features, however, the disorder may in some people remain unrecognized. There is currently no way to estimate how underdiagnosed this syndrome is.", "related-disorders": "Symptoms of the following disorders may appear similar to those of CES, although the underlying defect would be different. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of CES is based on the presence of extra chromosomal material derived from chromosome 22q11. (see Causes above).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1388", "name_zh": "Catel-Manzke综合征", "Name": "Catel Manzke Syndrome", "disease_name": "Catel Manzke Syndrome", "synonyms": "Catel-Manzke Type Palatodigital Syndrome", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Alterations (mutations) in the TGDS gene have been identified in individuals with Catel-Manzke syndrome. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "The incidence and prevalence of Catel-Manzke syndrome is unknown. More than 33 individuals with the disorder have been reported in the medical literature. Since some individuals may go misdiagnosed or undiagnosed, determining the true frequency of Catel-Manzke syndrome in the general population is difficult. More males have been described with the disorder than females, but this may be a coincidence since so few individuals have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Catel-Manzke syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In some cases, Catel-Manzke syndrome may be suspected before birth (prenatally) based upon advanced imaging techniques such as ultrasound. In fetal ultrasonography, reflected sound waves may be used to create an image of the developing fetus, potentially revealing certain findings suggestive of Catel-Manzke syndrome (e.g., abnormal smallness of the jaw, malformation of the index fingers, etc.).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3027", "name_zh": "尾部退化综合征", "Name": "Caudal regression syndrome", "disease_name": "Caudal Regression Syndrome", "synonyms": "caudal dysplasia", "disease-overview": "", "symptoms": "The specific symptoms and severity of caudal regression syndrome can vary dramatically from one person to another. Caudal regression syndrome most likely represents a spectrum of disease ranging from cases with milder symptoms to cases with severe, disabling or potentially life-threatening complications. It is important to note that affected individuals may not have all of the symptoms discussed below and that one child’s experience will vary (sometimes dramatically) from another child’s. Parents of affected children should talk to their physician and medical team about their child’s specific case, associated symptoms and overall prognosis.", "causes": "The exact cause of caudal regression syndrome is unknown. Researchers believe that both environmental and genetic factors may play a role in the development of the disorder. Most cases appear to occur randomly for no apparent reason (sporadically), which suggests environmental factors or a new gene change (mutation). Most likely, caudal regression syndrome is multifactorial, which means that several different factors may play a causative role. In addition, different genetic factors may contribute to the disorder in different people (genetic heterogeneity).", "affected": "Caudal regression syndrome affects males and females in equal numbers. The incidence of the disorder has been estimated to be 1 in 5 per 100,000 live births. The disorder occurs with greater frequency among women with diabetes.", "related-disorders": "Symptoms of the following disorders can be similar to those of caudal regression syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of caudal regression syndrome can often be made before birth (prenatally) usually using a fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with caudal regression syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:164", "name_zh": "欧洲非罕见：大脑海绵状畸形", "Name": "Cavernous Malformation", "disease_name": "Cavernous Malformation", "synonyms": "cavernoma", "disease-overview": "Vascular malformations are localized collections of blood vessels that are abnormal in structure or number. Vascular malformations lead to altered blood flow and are not cancerous (nonneoplastic). In the past, researchers believed that most vascular malformations are present at birth (congenital). However, we now know that cavernous malformation lesions display some cancer-like qualities and can develop throughout the lifetime of the affected individual. The four most common types of vascular malformations are capillary telangiectasias, cavernous malformations, venous malformations, and arteriovenous malformations.", "symptoms": "Individuals with cerebral cavernous malformations present with a wide variety of symptoms. Some affected individuals may have no symptoms at all while others may experience headaches or neurological deficits, including weakness in the arms or legs, problems with memory or balance, or difficulties with vision or speech. Hemorrhagic stroke and seizures are the most severe symptoms caused by cavernous malformations. Clinical symptoms vary by individual and are dependent on the location of the lesion(s) and on the propensity to bleed. Spinal cord cavernous malformations can cause numbness, weakness, paralysis, tingling, burning, or itching. Cavernous malformations of the spinal cord can also cause problems with bladder and bowel control.", "causes": "Individuals with only one CCM and no affected relatives most likely have the sporadic (non-inherited) form of the illness. Those with multiple CCMs and/or a family history of the cavernous malformations are much more likely to have the familial type due to a change (mutation) in one of three genes, CCM1 (KRIT1), CCM2, or CCM3 (PDCD10).", "affected": "In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM.", "related-disorders": "Symptoms of the following disorders can be similar to those of Parry-Romberg syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Magnetic resonance imaging (MRI) is now the standard of care for diagnosing cavernous malformations. Unless an individual has had a recent bleed, CT scans or angiography will not detect CCM lesions. For familial cases, molecular genetic testing for mutations in the CCM1, CCM2, and CCM3 genes is commercially available to confirm the diagnosis and is less expensive than MRI.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:597", "name_zh": "中央轴空病", "Name": "Central Core Disease", "disease_name": "Central Core Disease", "synonyms": "CCD", "disease-overview": "Central core disease (CCD) is a rare genetic neuromuscular disorder that is classified as a congenital myopathy, meaning that it is present at birth (congenital) and is a disorder that causes muscle weakness (myopathy). Affected infants have low muscle tone (hypotonia) resulting in abnormal floppiness, muscle weakness and a variety of skeletal abnormalities such as side-to-side curvature of the spine (scoliosis). Muscle weakness normally affects the proximal muscles, which are those muscles closest to the center of the body such as the muscles of the shoulder, pelvis and upper arms and legs. Affected infants may experience delays in acquiring motor milestones such as crawling or walking. Some individuals with CCD may be susceptible to developing malignant hyperthermia, a condition in which individuals develop adverse reactions to certain anesthetic drugs during surgical procedures. CCD may be very mild or may cause serious complications. Most cases are inherited in an autosomal dominant pattern and associated with stable or slowly progressive muscle disease and a good prognosis. Some cases are inherited in an autosomal recessive pattern and are more likely to be associated with severe complications.", "symptoms": "The specific symptoms and severity of CCD vary greatly from person to person. Some individuals may develop very mild muscle disease that may go unnoticed or get a congenital myopathy incidental finding report from a next-generation sequencing (NGS) genetic test; others may develop serious muscle disease that can delay motor milestones or cause serious breathing (respiratory) difficulties. In most patients, muscle weakness in CCD is not progressive or only progresses very slowly.", "causes": "Most cases of CCD are thought to be caused by specific variants (mutations) in the ryanodine receptor (RYR1) gene.", "affected": "Central core disease affects males and females in equal numbers. The exact incidence and prevalence of CCD is unknown. CCD is believed to be the most common form of congenital myopathy, which as a group occurs in 6 out of every 100,000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of CCD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CCD may be diagnosed based upon a thorough clinical evaluation, detection of characteristic physical findings, patient and family history and specialized tests. However, genetic testing is gradually becoming the first step in the diagnostic process, with other evaluations performed to confirm the genetic results. The disorder may sometimes be diagnosed during the first years of life; however, not infrequently, it may not be recognized until later during childhood, adolescence or adulthood following certain associated musculoskeletal abnormalities (see Symptoms).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:595", "name_zh": "中央核性肌病", "Name": "Centronuclear myopathy", "disease_name": "Centronuclear Myopathy", "synonyms": "autosomal dominant centronuclear myopathy (AD-CNM)", "disease-overview": "", "symptoms": "The specific symptoms and severity of CNMs can vary greatly among the different forms and from one person to another. Some individuals may only develop mild symptoms; others develop serious life-threatening complications. Unlike the X-linked form, the autosomal dominant form of CNM is rarely fatal during childhood. The autosomal recessive forms can be severe or mild. The course of an individual case is often unpredictable. Because of the variable nature of these disorders, parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Centronuclear myopathies are caused by a mutation in a specific gene. The autosomal forms are denoted by their associated gene. DNM2-related myopathy is caused by a mutation in the dynamin 2 (DNM2) gene and is inherited as an autosomal dominant condition. Some cases of DNM2-related CNM may occur spontaneously (sporadically) with no previous family history of the disorder (i.e. new mutations). BIN1-related CNM is caused by mutations to the amphiphysin 2 (BIN1) gene and is inherited as an autosomal recessive condition. RYR1-related CNM is caused by mutations to the skeletal muscle ryanodine receptor (RYR1) gene and is thought to be inherited as an autosomal recessive condition.", "affected": "Autosomal forms of CNM affect males and females in equal numbers. The disorders are often present at birth, but in mild cases may go undiagnosed into adulthood. The exact incidence of these disorders is unknown. More than 100 families have been reported in the medical literature with DNM2-related CNM. Both BIN1-related CNM and RYR1-related CNM have been reported in fewer than 50 individuals respectively. Because these disorders may go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of CNMs in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of CNM. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CNM should be suspected in newborns with hypotonia and muscle weakness and older children or adults with weakness in the arms and legs. A diagnosis is based upon identification of additional characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:269203", "name_zh": "孤立性小脑蚓部发育不全", "Name": "Cerebellar Agenesis", "disease_name": "Cerebellar Agenesis", "synonyms": "cerebellar aplasia", "disease-overview": "Cerebellar agenesis is an extremely rare condition. Cerebellar agenesis is a descriptive term implying complete absence of the cerebellum, irrespective of its underlying cause (etiology). Usually, small remnants of the cerebellum are present; therefore, the term subtotal cerebellar agenesis is also used in the literature. It is now recognized that cerebellar agenesis can represent a primary disturbance of embryonic development (also called malformation), but it can also result from a secondary destruction of normally developed tissue (also called a disruption). (See the Causes section below for additional information). It is now established that the cerebellum is not only responsible for motor coordination (of muscles, trunk and limbs, tongue and the eye muscles), but also plays an important role in many non-motor functions, including learning, memory, language and behavior. Therefore, individuals with congenital as well as acquired cerebellar disorders often have learning disabilities, impaired executive functions and variable degree of cognitive impairments.", "symptoms": "The signs and symptoms of cerebellar agenesis can vary greatly from one individual to another. According to the medical literature, some individuals with cerebellar agenesis have had only mild symptoms. In fact, in some reported cases, it has been claimed that motor function may be almost normal, perhaps due to partial compensation from other areas of the brain. Reports in the medical literature discuss individuals with cerebellar agenesis who had a normal lifespan, attended regular schools and found employment and lived productive though often simple lives.", "causes": "The etiology of cerebellar agenesis is varied (heterogeneous). Acquired (prenatal/perinatal) causes include cerebellar destruction caused by hemorrhage, lack of or diminished blood flow (ischemia), prenatal infection (e.g., cytomegalovirus, Zika virus) or other factors. This has been documented in a minority of children with spina bifida (myelomeningocele), also called vanishing cerebellum in myelomeningocele. It is being increasingly recognized in premature babies with very low birth weight (also called cerebellar disruption of prematurity) and is often accompanied by additional anomalies of the brain.", "affected": "Cerebellar agenesis appears to affect males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. Congenital isolated cerebellar agenesis is considered an extremely rare occurrence.", "related-disorders": "Cerebellar agenesis is defined by neuroimaging and should not be confused with other more prevalent malformations of the cerebellum (e.g., Dandy-Walker malformation and Joubert syndrome) if the detailed neuroimaging pattern is taken into account.", "diagnosis": "After birth (postnatally) the definite diagnosis of cerebellar agenesis is based on the neuroimaging findings with MRI (magnetic resonance imaging); it cannot be made on clinical grounds. Before birth (prenatally) the diagnosis of cerebellar agenesis is not reliably possible by ultrasound or fetal MRI. Babies have been described with normal brain ultrasound at 20-25 weeks of gestation, with subsequent destruction of the cerebellum during later stages of pregnancy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79172", "name_zh": "肌酸缺乏综合征", "Name": "Creatine deficiency syndrome", "disease_name": "Cerebral Creatine Deficiency Syndromes", "synonyms": "CCDS", "disease-overview": "Cerebral creatine deficiency syndromes (CCDS) are inborn errors of creatine metabolism which interrupt the formation or transport of creatine. Creatine is necessary to render available the energy of adenosine triphosphate (ATP) to all cells in the body. Creatine is essential to sustain the high energy levels needed for muscle and brain development.", "symptoms": "The severity of CCDS varies from patient to patient. Global developmental delays affect all children with these disorders and may be the first sign, appearing before other symptoms. Speech delay may be particularly severe and is present in all affected children. Intellectual disability of variable severity is typically present in all older children and adults.", "causes": "Creatine transporter defect (CTD)", "affected": "CTD is estimated to account for 1-2% of all unexplained X-linked intellectual disabilities. In regard to GAMT deficiency, there have been estimations from 1 out of 250,000 to 1 out of 550,000. As of 2015, there have only been 110 individuals with GAMT deficiency diagnosed worldwide. The prevalence of AGAT is not known because there have been too few studies on record.", "related-disorders": "CCDS patients are frequently misdiagnosed with cerebral palsy as infants and toddlers. Children are often misdiagnosed with autism or global developmental delays.", "diagnosis": "CCDS screening is non-invasive.Testing in both urine and plasma is recommended for all three types of CCDS by measuring the concentration of creatine (Cr), guanidinoacetate (GAA) and creatinine (Crn). Follow up genomic testing for specific genes and brain MRI with spectroscopy may be ordered to confirm a CCDS diagnosis. GAMT deficiency is also part of the recommended uniform newborn screening panel and children can be identified at birth in states that have adopted it.", "therapies": "Treatments"}
{"OrphaCode": "ORPHA:217382", "name_zh": "脑叶酸转运缺陷所致神经退行性综合征", "Name": "Neurodegenerative syndrome due to cerebral folate transport deficiency", "disease_name": "Cerebral Folate Deficiency", "synonyms": "cerebral folate deficiency syndrome", "disease-overview": "Cerebral folate deficiency is a neurological syndrome in which development is usually normal in the first year of life, but at approximately 2 years of age, affected children start to lose mental and motor skills (psychomotor regression). Some early symptoms are intellectual disability, speech difficulties, and development of recurrent seizures in a third of affected children. Motor issues such as tremors and lack of muscle control or coordination of voluntary movements (ataxia) can become severe. Cerebral folate deficiency occurs because of a deficiency of vitamin B folate (vitamin B9) in the brain caused by a low level of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid due to a disruption in the function of the folate receptor alpha (FRA). The function of the FRA can be disrupted by several causes. The most common etiology involves one of two autoantibodies blinding to the FRA resulting in a disruption in its function. The FRA is highly dependent on mitochondrial function leading to disrupting in FRA function in mitochondrial and other metabolic disorders. Lastly, rare mutation in the FOLR1 gene can result in an autosomal recessive genetic condition which disrupts FRA function. This condition can be treated with leucovorin calcium (aka folinic acid).", "symptoms": "The symptoms of cerebral folate deficiency may begin as early as four to six months of age with irritability and sleep problems (insomnia). Delays in development may be noted including slow head growth, low muscle tone (hypotonia), ataxia, loss of voluntary movement (dyskinesia), constant contracted muscles (spasticity), speech complications, and epilepsy. Additional signs may involve visual disturbances, hearing loss and autistic features.", "causes": "Cerebral folate deficiency is caused by a disruption in the function of the folate receptor alpha (FRA).  Folate receptor alpha is located inside the cell membrane and binds to folate, which allows it to be transported into the cell. The protein is created in greatest quantities in the choroid plexus in the brain. The choroid plexus releases cerebrospinal fluid that protects the brain and spinal cord. Folate receptor alpha moves folate through the choroid plexus and into the cerebrospinal fluid that will spread to the brain. Folate is important for constructing myelin and chemical messengers (neurotransmitters) that transmit signals in the brain. The absence of folate in the brain triggers the neurological complications associated with this condition.", "affected": "Fewer than 20 individuals with cerebral folate deficiency have been reported in scientific literature. The exact prevalence of this condition is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of cerebral folate deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Folinic acid-responsive seizures (FARS) is a condition characterized by myoclonic or clonic seizures, trouble breathing (apnea), and irritability within five days after birth. Brain imaging will demonstrate brain atrophy and numerous white matter abnormalities. FARS is caused by mutations in the ALDH7A1 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1393", "name_zh": "大脑肋骨下颌综合征", "Name": "Cerebrocostomandibular Syndrome", "disease_name": "Cerebrocostomandibular Syndrome", "synonyms": "CCMS", "disease-overview": "Cerebrocostomandibular syndrome (CCMS) is a disorder that involves a small chin (micrognathia), an opening in the roof of the mouth (cleft palate), a narrow chest, missing ribs, gaps between ribs, and breathing and feeding difficulties. Other common features include scoliosis, developmental delay or intellectual disability, and hearing loss. Other medical problems can be seen as well. Breathing difficulties can lead to death in childhood, and most babies born with CCMS need surgery in the first year of life to help them breathe. These surgeries can include inserting a breathing tube directly into the throat (tracheostomy), surgeries to make the jaw or chest larger, surgery to insert a feeding tube into the stomach, and surgery to repair the hole in the roof of the mouth. CCMS is caused by changes in the SNRPB gene. A damaging change in one of a person’s two copies of the gene can cause the disorder. Most of the time, these changes are new to a child, and do not show up in family members. Rarely, a parent may have the change as well, and may show no symptoms. The diagnosis of CCMS is usually made in the first year of life based on the clinical features (such as a small jaw, rib gaps, narrow chest, and/or breathing difficulties). Imaging techniques like X-ray or MRI may be needed to take a better look at the ribs and spine. Genetic testing can confirm the diagnosis and help parents to better understand the risk for having another child with the disorder.", "symptoms": "CCMS is an extremely rare inherited disorder. Its features mainly stem from problems in how the jaw and ribs are formed. People with CCMS have a small jaw with a small chin and mouth (micrognathia). This can cause the tongue to be in the wrong position (glossoptosis). In turn, the abnormal position of the tongue can cause a gap to form in the roof of the mouth (cleft palate) during development in the womb. This set of features (micrognathia, glossoptosis, and cleft palate) is often called Robin sequence. These features can cause feeding difficulties. Nearly all people with CCMS have a small jaw, and most have cleft palate.", "causes": "The gene that is changed in patients with CCMS is the SNRPB gene. It is possible that there are other rarer causes of CCMS that have not been discovered yet, since some patients with CCMS do not seem to have a change in SNRPB.", "affected": "CCMS is a very rare disorder that is apparent at birth (congenital). The disorder appears to affect males and females in equal numbers. Over 80 patients have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of cerebrocostomandibular syndrome (CCMS). Comparisons may be useful for to distinguish between diagnoses:", "diagnosis": "In some patients, CCMS may be diagnosed before birth (prenatally) using advanced imaging techniques such as ultrasound. Fetal ultrasounds use reflected sound waves to make a picture of the developing fetus, and can show signs of CCMS (e.g., short, improperly formed ribs; small jaw; etc.).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:909", "name_zh": "脑腱性黄瘤病", "Name": "Cerebrotendinous xanthomatosis", "disease_name": "Cerebrotendinous Xanthomatosis", "synonyms": "cerebral cholesterinosis", "disease-overview": "", "symptoms": "The presentation of CTX is highly variable and is associated with a wide range of potential abnormalities. Originally, the disorder was believed only to be a neurological disorder of abnormal fat (lipid) storage not associated with liver disease. It is now known that CTX can occasionally present in childhood with cholestatic liver disease that can be severe or can be mild and resolve on its own in individuals who may later develop other complications of the disorder such as neurological disease. Cholestatic liver disease refers to the interruption or suppression of the flow of bile from the liver (cholestasis). Features of cholestasis include yellowing of the skin, mucous membranes and whites of the eyes (jaundice), failure to thrive, and growth deficiency. Enlargement of the liver (hepatomegaly) and/or spleen (splenomegaly) may also occur.", "causes": "CTX is caused by a disease-causing (pathogenic) variant in the CYP27A1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a pathogenic variant of a gene occurs, the protein product or enzyme may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain. In CTX, the gene variant is inherited in an autosomal recessive manner.", "affected": "Recent estimates place CTX incidence ranging from 1:134,970 to 1:461,358 in Europeans, 1:263,222 to 1:468,624 in Africans, 1:71,677 to 1:148,914 in Americans, 1:64,267 to 1:64,712 in East Asians and 1:36,072 to 1:75,601 in South Asians.. Despite this, only around three hundred affected individual of CTX have been described worldwide. This suggests many cases may go undiagnosed or are misdiagnosed. Affected individuals have been reported in the USA, Israel, Italy, Japan, the Netherlands, Belgium, Brazil, Canada, France, Iran, Norway, Tunisia, Spain, China and Sweden. Populations with a higher prevalence of CTX exist, for example in an isolated Israeli Druze community a carrier frequency of 1:11 for the deleterious c.355delC variant was determined, leading to an estimated prevalence of CTX at 1:440 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of CTX. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CTX is diagnosed based on a thorough clinical evaluation, a detailed patient and family history, identification of characteristic clinical findings, and specialized tests including genetic testing and biochemical tests on blood and urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93962", "name_zh": "弃用：颈肌张力障碍", "Name": "Cervical Dystonia", "disease_name": "Cervical Dystonia", "synonyms": "focal dystoniaidiopathic cervical dystonia", "disease-overview": "Cervical dystonia, also known as spasmodic torticollis, is a rare neurological disorder that originates in the brain. It is the most common form of focal dystonia in an office setting. Cervical dystonia is characterized by involuntary muscle contractions in the neck that cause abnormal movements and postures of the neck and head. In some cases, these abnormal contractions may be sustained or continuous; in others, they may be present as spasms that can resemble tremor. The severity of cervical dystonia can vary, but the disorder can cause significant pain and discomfort as well as difficulty due to the abnormal postures. It can affect quality of life and activities of daily living including employment. Cervical dystonia typically begins in middle age, and rarely begins in adolescence and young adulthood. The cause of cervical dystonia is unknown, although a genetic susceptibility is thought to underlie some cases. If cervical dystonia begins in infancy or early childhood, secondary causes should be investigated.", "symptoms": "The symptoms of cervical dystonia may begin slowly and can involve any of the muscles of the neck. The head posture in cervical dystonia can vary. The most common abnormal posture associated with cervical dystonia is the twisting of the chin toward a shoulder so that the head rotates sideways (torticollis). Other abnormal postures associated with cervical dystonia including anterocollis, in which the head tips forward; retrocollis, in which the head is tilted backward; or laterocollis, in which the head tilts toward one side. There can also be shifting of the head on the shoulders in a forward (anterior sagittal shift) or backward (posterior sagittal shift) direction. Often cervical dystonia is complex and combines several angles of head movement. In some people with isolated CD, there may also be a postural tremor of the hands. Symptoms of cervical dystonia vary over the course of the disorder. Studies of the natural history of CD are needed to better understand the natural history of this disorder. Symptoms may temporarily worsen with stress or excitement. The dystonia can be activated by certain postures or positions. This varies in individual patients. Symptoms may improve with the performance of sensory tricks, such as touching the cheek or the back of the head. A small percentage of individuals experience a spontaneous recovery (remission) after symptom onset. This remission is often temporary, lasting days to years, with recurrence of symptoms. It is likely that less than 1 percent of affected individuals have permanent remissions.", "causes": "Cervical dystonia is classified as an isolated dystonia if there are no other associated abnormal findings, such as spasticity, Parkinsonism or ataxia. Most isolated cervical dystonia had no identifiable underlying causes. However, in some cases, cervical dystonia can arise from another underlying cause and be considered secondary (occurring as consequence of another disorder or condition). In most cases, isolated cervical dystonia is idiopathic although a genetic susceptibility may be present as evidenced by a positive family history in approximately 10-25% of cases. Cervical dystonia is associated with changes (mutations) in several genes (GNAL, THAP1, CIZ1, ANO3 genes) and several possible environmental factors. However, at this time there is no gene test that is recommended for clinical purposes in people with cervical dystonia. Some cases of cervical dystonia may have an identifiable cause (secondary cervical dystonia). In these cases, cervical dystonia may develop due to the use of certain drugs such as anti-psychotics or certain nausea medications with dopamine receptor blocking activity. In most secondary cases, such as those due to toxins or degenerative brain diseases, there are additional signs and symptoms other than cervical dystonia. Whether trauma to the neck could cause cervical dystonia remains controversial. Cervical dystonia is a neurological disorder. However, there are some non-neurological conditions that may mimic cervical dystonia. In children with slippage of the vertebrae in the neck (atlanto-axial subluxation), there may be a twisting of the head that is very painful and requires specialized orthopedic treatments. Some infants are born with a shortening of one of the muscles in the neck (congenital infantile torticollis) that causes a head turn. In some children with esophageal reflux, there can also be posturing of the head. There are additional conditions, including functional movement disorders that may appear similar to cervical dystonia but are non-neurologic in origin.", "affected": "Cervical dystonia affects women approximately twice as often as men. It is the most common form of focal dystonia in an office setting. Cervical dystonia may affect individuals of any age, but typically develops in people between 40 and 60 years of age. Cervical dystonia affects people of all ethnic backgrounds. The exact incidence or prevalence of cervical dystonia in the general population is unknown but is estimated to be about 60,000 people in the United States.", "related-disorders": "", "diagnosis": "A diagnosis of cervical dystonia is based upon clinical examination, a detailed patient history, and knowledge of the disorder. No specific laboratory or imaging test confirms a diagnosis of cervical dystonia. There are no abnormalities in laboratory or imaging tests. Magnetic resonance imaging (MRI) of the brain is normal, and MRI of the neck does not help with the diagnosis unless compression of the spinal cord is suspected. Electromyography is not indicated unless there are additional signs of nerve irritation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98907", "name_zh": "中性脂质贮积病伴鱼鳞病", "Name": "Neutral lipid storage disease with ichthyosis", "disease_name": "Chanarin-Dorfman Syndrome", "synonyms": "Chanarin-Dorfman disease", "disease-overview": "", "symptoms": "Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to ichthyosiform nonbullous erythroderma. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle problems. They have slowly progressive weakness of the proximal arms and legs. When the muscles are affected they release their enzymes in the blood, which can be detected by the presence of a CK elevation. Exercise intolerance has never been reported, but many patients reported early fatigability.", "causes": "Chanarin-Dorfman syndrome is caused by changes (mutations) in the ABHD5 gene located on chromosome 3. This gene produces a protein involved in fat metabolism called CGI-58. This protein is called a co-factor because it helps the activity of the main enzyme, which is adipose triacylglycerol lipase (ATGL). The function of this enzyme is to break down a type of fat called triacylglycerol (TAG). This process is disturbed when either the enzyme or the helper protein doesn’t work properly. When the fat (triacylglycerol) cannot be broken down, it accumulates in various parts of the body as lipid droplets and causes different symptoms. This is what happens in a group of disorders called ‘neutral lipid storage disease’. It comprises two entities:", "affected": "There have been over 128 patients reported worldwide, especially in the Mediterranean and Middle East region. Many of the reported patients have been children born to couples who are related by blood (consanguineous). This condition affects males and females equally.", "related-disorders": "There are a few disorders other than Chanarin-Dorfman syndrome that have similar skin changes at birth and involve many systems. Among those, there is Neherton syndrome, Sjögren-Larsson syndrome, Conradi-Heunermann-Happle syndrome, Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome and Refsum syndrome.", "diagnosis": "Newborns usually have characteristic skin changes (ichthyosiform changes), but the combination of skin appearance, liver abnormalities and other system involvement is what raises the suspicion for Chanarin-Dorfman syndrome. The suspected diagnosis is made with a peripheral blood smear test, where fat deposits (lipid droplets) are seen in white blood cells (called Jordan’s anomaly). Molecular genetic testing for mutations in the ABHD5 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64734", "name_zh": "虹膜角膜内皮综合征", "Name": "Iridocorneal endothelial syndrome", "disease_name": "Chandler Syndrome", "synonyms": "iridocorneal endothelial syndrome", "disease-overview": "Chandler’s syndrome (CS) is a rare eye disorder in which the endothelium, the single layer of cells lining the interior of the cornea, proliferates causing corneal edema, distortion of the iris, and unusually high pressure in the eye (glaucoma). CS is one of three syndromes affecting the eyes (progressive iris atrophy and Cogan-Reese syndrome are the other two) that make up the iridocorneal endothelial syndrome (ICE syndrome). The spectrum is an acquired, unilateral disorder, which typically occurs in early to middle adulthood and predominantly affects women.  Chandler’s syndrome is the most commonly encountered clinical variant of this spectrum.", "symptoms": "Chandler’s syndrome is characterized by proliferation of the cells lining the cornea, swelling of the cornea with distortion of the iris and glaucoma (optic nerve damage from high pressure) within the eye.", "causes": "The single layer of cells lining the inside of the surface of the cornea is known as the endothelium. One of the roles played by the endothelium is to pump aqueous humor (fluid inside the eye) from the cornea. If the behavior of the endothelium is interrupted (as in Chandler’s syndrome), the pumping action fails, and fluid accumulates in the cornea (corneal edema) resulting in blurred vision. In addition, the abnormal endothelial cells can migrate as a membrane over adjacent structures, including the iris and the trabecular meshwork (the drainage canal of the eye). Contraction of this membrane leads to associated iris changes (corectopia) and iridotrabecular synechiae causing obstruction of aqueous outflow in the trabecular meshwork resulting in secondary glaucoma.", "affected": "Chandler’s syndrome is a very rare disorder that affects females more often than it does males. The disorder usually appears during young adult to middle aged years. However, its occurrence in a child and a teenager has been reported. ICE syndrome has been described in different ethnic groups, although the prevalence of the 3 clinical variants may vary among ethnicities.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chandler’s syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Progressive (or essential) iris atrophy is a very similar disorder to Chandler’s syndrome and their symptoms may even overlap. Progressive iris atrophy is characterized by gross distortion of the pupil eye and the development of holes in the iris. This condition also causes increased intraocular pressure and corneal edema. If left untreated, vision loss may occur.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:166", "name_zh": "腓骨肌萎缩症/遗传性运动感觉性神经病", "Name": "Charcot-Marie-Tooth Disease", "disease_name": "Charcot-Marie-Tooth Disease", "synonyms": "CMT", "disease-overview": "Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy as well as sensory loss. Symptoms occur first in the distal legs and later in the hands. The nerve cells in individuals with this disorder are not able to send electrical signals properly because of abnormalities in the nerve axon or abnormalities in the insulation (myelin) around the axon. In CMT specific gene mutations are responsible for the abnormal function of the peripheral nerves. In many forms of CMT these genes are known and in others, while the condition is known to be inherited, the specific gene has not yet been identified.", "symptoms": "Symptoms of CMT disease usually begin gradually in adolescence, but can begin earlier or later. In almost all patients, the longest nerve fibers are affected first. Over time, affected individuals may lose the normal use of their feet, hands, legs and arms. Common early signs and symptoms can include decreased sensitivity to heat, touch or pain, muscle weakness in the hand, foot or lower leg, trouble with fine motor skills, high-stepped gait (foot drop), loss of muscle mass in the lower leg, frequent tripping or falling, hammertoe, high foot arch and flat feet. Stretch reflexes may be lost. The disease is slowly progressive and variable, and those affected may remain active for years and live a normal life span. In the most severe cases, breathing difficulties can hasten death.", "causes": "CMT is known to be a genetic condition caused by genes that have abnormal changes affecting their function. There are now over 100 genes that are known to be responsible for various forms of CMT. A single gene, PMP22, when duplicated, is the cause of around 50% of cases of CMT, while damaging changes in some genes that cause CMT can be extremely rare and found only in a few families. In around 40% of cases of CMT, no responsible gene has yet been identified.", "affected": "CMT is found worldwide in people of all races and ethnic groups. Prevalence rate estimates from epidemiological studies are highly variable due in part to the wide variation of clinical symptoms and different disease forms as well as discrepancies in what conditions are included within CMT. Recent prevalence estimates range from 9 to 28 per 100,000. Symptoms of CMT usually begin gradually in adolescence, early adulthood or middle age.", "related-disorders": "Peripheral neuropathy is part of at least 100 inherited syndromes, though it is typically overshadowed by other manifestations. Expert opinions differ on exactly which disorders are similar to but separate from, the same as, or have some overlap with conditions within the CMT group of disorders.", "diagnosis": "The diagnosis of CMT disease can be challenging. Diagnosis is based on physical symptoms, family history and clinical tests. Clinical tests include nerve conduction velocity (NCV) which measures the speed at which impulses travel along the nerves and electromyogram (EMG) which records the electrical activity of muscle cell. With recent advances in molecular genetic testing using both deletion duplication analysis and next generation sequencing (NGS) for patients with a clinical diagnosis of CMT, a genetic cause can be found in about 60% of patients. For CMT1 a genetic cause can be identified in 56-92% of patients. For axonal CMT, genetic causes can be found 17-44% of the time. Panels to test multiple genes can include from 7 to 150 genes, while abnormalities in 4 genes, (PMP22 duplication, GJB1, MFN2, and MPZ) account for about 90% of these genetic diagnoses.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:138", "name_zh": "CHARGE综合征", "Name": "CHARGE syndrome", "disease_name": "CHARGE Syndrome", "synonyms": "CHARGE association", "disease-overview": "CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The CHARGE acronym comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%); (H) = heart defects in 75-85%, especially tetralogy of Fallot; (A) = atresia of the choanae (blocked nasal breathing passages) (50-60%); (R) = retardation of growth (70-80%) and development; (G) = genital underdevelopment due to hypogonadotropic hypogonadism; (E) = ear abnormalities and sensorineural hearing loss (>90%). In addition to the CHARGE features above, many children with CHARGE syndrome have other features, including characteristic facial features: asymmetric facial nerve palsy, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the windpipe and the food pipe). The symptoms of CHARGE syndrome vary greatly from one child to another.", "symptoms": "CHARGE syndrome affects multiple organ systems, resulting in multiple problems apparent at birth. Other characteristics of CHARGE syndrome may not become apparent until later in life. The diagnosis of CHARGE syndrome should be made by a medical geneticist based on the presence of at least one major criterion and several minor and/or occasional criteria of CHARGE syndrome (see below).", "causes": "The cause of CHARGE syndrome is usually a new variant (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8 (8q12.2) where the CHD7 gene is located. CHD7 function is required for the development of the retina and cranial motor neurons. Over 70-90 % of typical CHARGE syndrome patients have variants in the CHD7 gene.", "affected": "CHARGE syndrome is a rare disorder, affecting 1:10,000-15,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE syndrome than those described in the medical literature. Many cases are misdiagnosed or undiagnosed, especially in children with fewer problems. Although many features of CHARGE syndrome are apparent at birth, some features will not become apparent for weeks, months or perhaps years later. The recurrence risk of CHARGE syndrome for parents with one affected child is low, around 2-3 percent. The recurrence risk for an adult with CHARGE syndrome to have an affected child may be as high as 50 percent.", "related-disorders": "Symptoms of the following disorders can be similar to those of CHARGE syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A medical geneticist or other specialist familiar with CHARGE syndrome should do a complete physical exam and order tests to look for the major and minor features of CHARGE syndrome listed above.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:167", "name_zh": "ChÚdiak-Higashi综合征", "Name": "Chediak Higashi Syndrome", "disease_name": "Chediak Higashi Syndrome", "synonyms": "Begnez-Cesar's Syndrome", "disease-overview": "Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism),  immune deficiency with an increased susceptibility to infections, and a tendency to bruise and bleed easily. Neurological deficits are also common. CHS is transmitted as an autosomal recessive genetic condition.", "symptoms": "The symptoms of CHS may be apparent during early infancy. Hair is typically blond or light brown with a silvery tint. Affected children may be abnormally sensitive to light (photosensitivity) because of the reduced pigment in the eyes and skin, and may exhibit rapid, involuntary, eye movements (nystagmus). More important and more serious are the effects of CHS on the patient’s immune and nervous systems.", "causes": "Chediak-Higashi syndrome is inherited as an autosomal recessive genetic trait. The responsible gene has been mapped to chromosomal locus 1q42.1-q42.2 and is known as LYST gene.", "affected": "Chediak-Higashi syndrome is a very rare disorder that affects males and females in equal numbers. It is often obvious at birth or shortly thereafter. There does not appear to be a higher risk for any particular ethnic or racial group. There are less than 500 cases of the disease on record. 85% of affected individuals progress to the accelerated phase.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chediak- Higashi syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Griscelli syndrome, also known as Chediak-Higashi-like syndrome, is a rare inherited disorder characterized by partial albinism and abnormalities of platelets and white blood cells. The symptoms are similar to those of CHS.  There are 3 different types of Griscelli syndrome. Type 2 is very similar to CHS as patients have reduced pigment and immune abnormalities. These patients are also at risk for the accelerated phase. On laboratory analysis, the white blood cells do not have the giant granules like those seen in Chediak- Higashi syndrome; therefore, the diagnoses are made differentially based on these WBC granules.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:268882", "name_zh": "Arnold-Chiari畸形Ⅰ型", "Name": "Chiari Malformations", "disease_name": "Chiari Malformations", "synonyms": "Arnold-Chiari Malformation (ACM)", "disease-overview": "", "symptoms": "The signs and symptoms of Chiari malformation can vary greatly from one person to another. Some individuals may not have any symptoms (asymptomatic) upon diagnosis as an incidental finding; others may have serious manifestations such as neurological deficits. Symptoms may go through periods of exacerbation and remission. Chiari malformations are highly variable conditions that will affect every individual person differently. Specific symptoms can occur in different combinations and generally reflect dysfunction of the cerebellum, the brainstem, the spinal cord and lower cranial nerves. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The exact cause of Chiari malformations is unknown. These malformations and the associated central nervous system abnormalities are extremely complex. Chiari malformations appear to be due to a developmental failure of the brainstem and upper spinal cord (cervical region) within a developing fetus with no known cause. Some investigators believe that an abnormally small posterior fossa, which is the space in which the cerebellum normally resides, contributes to the development of a Chiari malformation. In many individuals, the posterior fossa is abnormally small, which may lead to the growing brain being pushed down through the normal opening (foramen magnum) where the brain and spinal cord meet.", "affected": "Chiari malformations affect individuals of every race and ethnicity. Some studies suggest that females are affected more often than males. In most cases, a Chiari malformation is thought to be present at birth (congenital), although some cases may not be discovered until adulthood (sometimes incidentally when a brain scan is done for another reason). The incidence and prevalence of Chiari malformations are unknown. Some cases may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of these disorders in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chiari malformation. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a Chiari malformation is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a neurological exam that includes a variety of specialized tests including specialized imaging techniques.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:324625", "name_zh": "基孔肯雅热", "Name": "Chikungunya", "disease_name": "Chikungunya", "synonyms": "Arbovirus A Chikungunya Type", "disease-overview": "Chikungunya is a rare viral infection transmitted by the bite of an infected mosquito. It is characterized by a rash, fever, and severe joint pain (arthralgias) that usually lasts for three to seven days. Because of its effect on the joints, Chikungunya has been classified among the Arthritic Viruses. It primarily occurs in tropical areas of the world.", "symptoms": "The early symptoms of Chikungunya include fever, headache, and joint pain (arthralgias) that may be so severe that they may be disabling.  The knees, elbows, wrists, ankles, and/or fingers are generally effected.  Joint pain increases with movement and is worse in the morning.  However, it may take several weeks before the symptoms improve.  Chikungunya is not associated with permanent joint damage.", "causes": "Chikungunya is an infectious tropical disease caused by a virus that belongs to the group of A arboviruses.  It is transmitted by various species of mosquitoes.  Monkeys may also be infected with this virus.  Some cases of this infection appear to have occurred through casual human to human contact, but it is not known how it is transmitted among humans.", "affected": "Chikungunya is a viral disease that affects males and females in equal numbers.  It primarily affects children and young adults in Africa, Southeast Asia, and India.  A large outbreak of Chikungunya occurred in Tanganyika, Africa in 1953. This disorder is rare outside of tropical areas of the world.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chikungunya. Comparisons may be useful for a differential diagnosis:", "diagnosis": "O’Nyong-Nyong Virus is an infectious disease that first appeared in Africa in the late 1950’s.  The symptoms are similar to those of Chikungunya and include fever, joint pain, and skin rashes.  People with O’Nyong-Nyong Virus usually have swollen lymph nodes.  Typically the fever is short in duration and the joint pain is mild.", "therapies": "The diagnosis of Chikungunya may be confirmed by a specialized blood test that detects immune responses to the virus (ELISA test). The symptoms of Chikungunya improve spontaneously after several weeks. There is no specific treatment. However, bed rest and antiinflammatory medications (i.e., ibuprofen) may be useful. As with other viral diseases, antibiotics are not effective in treating this disease."}
{"OrphaCode": "ORPHA:70567", "name_zh": "胆管癌", "Name": "Cholangiocarcinoma", "disease_name": "Cholangiocarcinoma", "synonyms": "bile duct adenocarcinoma", "disease-overview": "Cholangiocarcinomas are cancers that arise from the cells lining the bile duct. They originally were grouped according to the location from which they arise as intrahepatic (arising from the bile ducts inside the liver), perihilar (arising from the bile ducts where they exit the liver), or distal (arising from the bile ducts outside the liver). Gallbladder cancers are also biliary tract cancers but arise from the cells lining the inside of the gallbladder.", "symptoms": "Most patients have no symptoms, particularly when the cancer is at an early stage. Occasionally biliary tract cancers are diagnosed incidentally when a CT or MRI scan is done for another reason, or when the gallbladder is removed due to symptomatic gallstones. Patients may have non-specific symptoms including weight loss, abdominal pain, fevers, night sweats and fatigue. Distal and perihilar cholangiocarcinoma or gallbladder cancers more frequently cause patients to develop jaundice due to tumor or lymph nodes blocking a major bile duct.", "causes": "Most cases of biliary tract cancer are sporadic, with no identifiable predisposing factors. There are several known risk factors for development of cholangiocarcinoma, however, including liver cirrhosis, hepatitis B and C, biliary tract stones, liver fluke infections, a congenital anatomical abnormality called a choledochal cyst and the chronic condition of inflamed bile ducts also called primary sclerosing cholangitis. Exposure to some industrial chemicals such as nitrosamines, dioxin, asbestos and polychlorinated biphenyls are also thought to increase the risk of developing cholangiocarcinoma. In the U.S., gallbladder cancer is commonly associated with the presence of long-standing gallstones resulting in calcification of the gallbladder wall or porcelain gallbladder. Gallbladder polyps are also associated with increased risk of gallbladder cancer. The incidence of bile duct cancers differs worldwide, likely reflecting both differing genetic predisposition and variable exposure to known risk factors.", "affected": "Approximately 20,000 new cases of bile duct cancers are diagnosed in the U.S. each year, of which over 12,000 are gallbladder cancers and distal/perihilar cholangiocarcinoma and 6,000 are intrahepatic cholangiocarcinoma. The incidence of intrahepatic cholangiocarcinoma in the U.S. is approximately 1.49 per 100,000 people.  Recently, the incidence of bile duct cancers has been increasing. This trend may be explained by the improved diagnostic techniques including imaging, increased disease awareness among physicians and wider acceptance of liver biopsy by patients.  Unlike intrahepatic and extrahepatic bile duct cancer, gallbladder cancer is more common in females than males, and in some countries the rates are three times higher for females. Certain geographic areas have a high incidence of gallbladder cancer, including Chile, Bolivia and India. A high incidence also has been reported in North American Native Americans and Mexican Americans.", "related-disorders": "Symptoms of the following disorders can be similar to those of cholangiocarcinoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of cholangiocarcinoma or gallbladder cancer is based on identification of characteristic symptoms (if present), a detailed patient history, clinical examination and several specialized tests including blood tests, imaging tests and endoscopic procedures. Either CT or MRI scans may be used to assess the tumor size and to look for blockage of the bile ducts and sites of spread. Endoscopic retrograde cholangiopancreatography (ERCP) may be used to insert a stent into a blocked bile duct to relieve jaundice. A biopsy is usually required to confirm the pathologic diagnosis and may be obtained by a CT or endoscopic ultrasound (EUS) guided biopsy. It is critical that genetic testing using next generation sequencing be performed on the biopsy sample. Some patients with gallbladder cancer are incidentally diagnosed following elective removal of their gallbladder due to gallstones, where the cancer is only detected on pathologic examination.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:173", "name_zh": "霍乱", "Name": "Cholera", "disease_name": "Cholera", "synonyms": "Asiatic Cholera", "disease-overview": "Cholera is an acute infectious disease caused by the bacterium vibrio cholerae, which lives and multiples (colonizes) in the small intestine but does not destroy or invade the intestinal tissue (noninvasive). The major symptom of cholera is massive watery diarrhea that occurs because of a toxin secreted by the bacteria that stimulates the cells of the small intestine to secrete fluid. There are several strains of V. cholerae and the severity of the disease is based on the particular infectious strain.", "symptoms": "The symptoms of cholera vary according to the severity of the disease.  Some infected individuals may only experience a few days of mild diarrhea.  Others may have more serious symptoms and prolonged diarrhea may be so severe that there is excessive fluid loss leading to shock.  Rapid onset of life- threatening complications may occur in very severe cases.", "causes": "Cholera is caused by the bacterium vibrio cholerae which is a rod-shaped gram negative organism.  There are several different types of this bacteria which can produce mild or more severe forms of the disease.  The symptoms of cholera develop due to the release of a toxin (Vibrio c. 01) by the bacteria.", "affected": "Outbreaks of cholera are typically limited to specific geographic areas (endemic) in India and parts of the Middle East, Asia, South America, and Africa.  The disease affects males and females in equal numbers.  Children are more susceptible to cholera than adults, especially those children under the age of five years.  Major outbreaks of cholera usually occur during the warmest part of the year.  Cholera occasionally spreads to Europe, Japan, Australia, and South America where epidemics can occur any time of the year and affect persons of all ages equally.", "related-disorders": "Symptoms of the following disorders can be similar to those of cholera. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Escherichia coli are bacteria found in the intestines of humans and many animals.  They usually do not cause disease (nonpathogenic) but certain strains may cause acute inflammation in some cases.  When these infections occur in the small intestine, symptoms may include bloody and watery diarrhea accompanied by fever.  When severe infection occurs in newborns, it is called Winckel’s Disease and may cause overwhelming infection of the blood stream (septicemia).  An outbreak of E. coli infection from under cooked hamburger meat occurred in the Unites States during the early 1990’s.  Several children died from this infection; others experience varying symptoms.", "therapies": "The diagnosis of cholera is confirmed by clinical evaluation and the isolation of the V. cholerae from cultures grown with samples of fresh stool from an infected individual."}
{"OrphaCode": "ORPHA:75234", "name_zh": "胆固醇酯贮积病", "Name": "Cholesteryl ester storage disease", "disease_name": "Cholesteryl Ester Storage Disease", "synonyms": "acid cholesteryl ester hydrolase deficiency, type 2", "disease-overview": "", "symptoms": "The symptoms and severity of CESD are highly variable. Some individuals may develop symptoms during childhood; others may have extremely mild cases that cause few symptoms. Still other individuals may not have any noticeable symptoms (asymptomatic) and may go undiagnosed until well into adulthood. It is important to note that affected individuals will not have all of the symptoms discussed below. The disorder often goes misdiagnosed or undiagnosed, making it difficult to determine its true frequency in the general population.", "causes": "CESD is caused by pathogenic variants in the lysosomal acid lipase (LIPA) gene. The LIPA gene contains instructions for producing the enzyme lysosomal lipase acid. This enzyme is essential for breaking down (metabolizing) certain fats in the body, especially cholesteryl esters (a form of cholesterol) and to a lesser degree triglycerides. Without proper levels of this enzyme, these fats abnormally accumulate in and damage various tissues and organs of the body. Variants in the LIPA gene result deficient levels of active, functional LIPA enzyme. There is no direct linear relation between residual LAL activity and the severity of the disease.", "affected": "CESD affects males and females in equal numbers. Approximately 50 cases have been reported in the medical literature. It is likely that there are more patients with CESD who have been misdiagnosed with other conditions.", "related-disorders": "Symptoms of the following disorders can be similar to those of cholesteryl ester storage disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CESD may be suspected based upon identification of characteristic symptoms such as abnormally enlarged liver. A diagnosis may be confirmed by a thorough clinical evaluation, a detail patient history (including family history) and specialized tests that reveal deficient activity of the LIPA enzyme in certain cells and tissues of the body. Testing for CESD is easy to perform and reliable through the measurement of enzyme activity in circulating leukocytes using dry blood spot (DBS) technology. In these cells, LAL activity is more severely depressed than in the body. Molecular genetic testing for variants in the LIPA gene is also available. This is usually a two-step procedure where testing for the highly prevalent E8SJM variant is done first and, if needed, sequencing of the LIPA gene is the second step.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:178", "name_zh": "脊索瘤", "Name": "Chordoma", "disease_name": "Chordoma", "synonyms": "clival chordoma", "disease-overview": "", "symptoms": "A chordoma can develop anywhere along the spine from the base of the skull to the tailbone (coccyx). The most common locations for a chordoma are at the triangular bone near the base of the spine (sacrum), the coccyx, and the clivus, which is a bone in the base of the skull. The clivus is located in front of the brainstem and behind the back of the throat.", "causes": "The underlying causes of chordoma are unknown. Most cases arise spontaneously and are not due to an inherited genetic change. A prevailing theory is that acquired genetic abnormalities or mutations result in cancerous growth of notochordal remnants. These genetic abnormalities may arise spontaneously for unknown reasons or, more rarely, be inherited.", "affected": "Chordomas can affect individuals of any age, including young children, but most often are diagnosed in individuals between 40-75 years of age (the average age at diagnosis is 55 years). Collectively, chordomas affect males more often than females by a ratio of approximately 2:1. However, skull base tumors have an equal (1:1) gender distribution. Children are more likely to have skull base tumors. Chordomas account for approximately 1-4% of all malignant bone tumors and around 20% of primary tumors of the spinal column. The incidence of chordoma is estimated to be approximately 1 per 1,000,000 people. About 300 new cases of chordoma are diagnosed in the United States each year. Some reports state that these tumors are more common in individuals of European ancestry.", "related-disorders": "Chondrosarcoma is a general term for a type of bone cancer that arises from cartilage cells. Cartilage is the specialized tissue that serves as a buffer or cushion at joints. Most of the skeleton of an embryo consists of cartilage, which is slowly converted into bone. Chondrosarcomas typically affect the arms, legs, and pelvis, but can affect any area that contains cartilage including the skull base and spinal column. Most cases are diagnosed in adults between the ages of 20 and 60. Chondrosarcomas are malignant and may spread to other areas of the body. (For more information on this disorder, choose chondrosarcoma as your search term in the Rare Disease Database.)", "diagnosis": "The symptoms of chordoma are not specific. Therefore the diagnosis is based on characteristic radiologic pathologic findings.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:180", "name_zh": "无脉络膜症", "Name": "Choroideremia", "disease_name": "Choroideremia", "synonyms": "choroidal sclerosis", "disease-overview": "Choroideremia is a genetic disorder of sight that usually affects males. Female carriers may have mild symptoms without loss of vision. Major symptoms are difficulty seeing in the dark leading to progressive loss of peripheral vision, followed by tunnel vision. The rate and degree of vision loss differs among individuals. Night blindness, usually the first noticeable symptom, generally occurs during childhood.", "symptoms": "Choroideremia is characterized by extensive loss of all retinal layers in the eyes. This disorder usually begins during childhood with wasting (atrophy) of the pigmented retinal epithelium, retina, and choroid. The retina is the light sensitive, most internal layer, consisting of many nerve containing layers. A layer of single pigmented cells is the layer outside of the retina. The choroid is the next layer located between the retina and the white section of the eye (the sclera); this layer contains small blood vessel).", "causes": "Choroideremia can be caused by many different changes (called variants or mutations) in the CHM gene. The CHM gene encodes REP1 (RAB escort protein 1), a protein that takes part in targeting vesicles (small sacs of substances) into, out of and within cells.", "affected": "Choroideremia affects primarily males. Female carriers generally have few or no symptoms. However, a small number of females develop the disorder because of a genetic process that inactivates the normal gene and leaves only the dysfunctional gene active. In the Salla area of northern Finland, an unusually high number of people have been diagnosed with choroideremia; approximately one in forty persons.", "related-disorders": "Symptoms of the following disorders can be similar to those of choroideremia. Comparisons may be useful for differential diagnosis:", "diagnosis": "X linked retinitis pigmentosa (RP) is the most common inherited vision disorder that has similar symptoms to choroideremia. X linked RP is passed from a mother (who carries or has RP) to a son. In RP, the retina degenerates, vision decreases and can be lost. Symptoms include night blindness leading to progressive loss of peripheral vision, followed by tunnel vision. Night blindness is usually the first noticeable symptom, generally occurring during childhood. This is followed by tunnel vision (loss of peripheral vision). The extent and progression of symptoms is variable. An eye doctor (ophthalmologist) can differentiate between RP and choroideremia with an eye exam. (For more information on this disorder, choose retinitis pigmentosa as your search term in the Rare Disease Database.)", "therapies": "The symptoms of choroideremia can be treated but the disease itself cannot yet be cured. Organizations providing services to sight impaired people help patients and their families."}
{"OrphaCode": "ORPHA:35686", "name_zh": "匐行性脉络膜炎", "Name": "Choroiditis, Serpiginous", "disease_name": "Choroiditis, Serpiginous", "synonyms": "Geographic Choroiditis", "disease-overview": "Serpiginous Choroiditis is one of the conditions in a group termed the white dot syndromes which all involve inflammation of the retina and choroid and are defined by the appearance of white dots in the posterior inner part of the eye (fundus). Serpiginous Choroiditis is a rare recurrent eye disorder characterized by irregularly shaped (serpiginous) lesions involving two layers of the eye surface (the retinal pigment epithelium and the choriocapillaris). No symptoms are apparent unless a specific area of the retina (macula) is damaged. A sudden, painless decrease in vision in one or both eyes may be the first sign of Serpiginous Choroiditis. Patients may also notice blind gaps in the visual field (scotomata) or a sensation of flashes of light (photopsia). Both eyes are commonly affected, although the second eye may not develop lesions for weeks to years after the first eye. The exact cause of Serpiginous Choroiditis is not known.", "symptoms": "Serpiginous Choroiditis is a rare disorder characterized by recurrent lesions affecting two layers of the eye (the retinal pigment epithelium and the choriocapillaris).  The retina is the light-sensitive internal coat of the eyeball, consisting of eight layers.  Seven of these layers contain nerves, and one layer contains pigmentation (retinal pigment epithelium).  The choroid is a vascular membrane located between the retina inside the eye and the white section on the outside of the eye (sclera).  The choriocapillaris is the layer of the choroid next to the retina.", "causes": "The exact cause of Serpiginous Choroiditis is not known.  Symptoms develop due to lesions that damage the part of the retina that absorbs short wavelengths of light (macular region).  Vision loss may also occur if a membrane composed of fibers and blood vessels (subretinal neovascular membrane) develops and then moves into the macular region.  It has been suggested in the medical literature that an abnormal immune response may cause inflammation of the blood vessels (localized vasculitis) of the eye, leading to the development of Serpiginous Choroiditis.  Some scientists suggest that the disorder is one of impaired blood circulation in the eye membranes.  A few affected individuals have been reported to have had chronic exposure to an unusual variety of chemicals, but the relationship between this exposure and the development of Serpiginous Choroiditis is not clear at this time.", "affected": "Serpiginous Choroiditis is a rare disorder that affects males more often than females.  Symptoms usually appear during the early to middle adult years.", "related-disorders": "Symptoms of the following disorders can be similar to those of Serpiginous Choroiditis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) is a rare acquired eye disorder characterized by the sudden onset of vision loss and inflammation of the outer retina and the pigmented layer of the retina (retinal pigment epithelium).  Multiple yellow-white plaque-like lesions appear in the posterior pole of the retina in each eye.  The rapid but temporary vision loss often subsides without treatment.  Pigment alterations usually remain after resolution of the lesions.  Vision loss may be permanent if the lesions affect a specific area on the retina (subfoveally), but more than 90 percent of affected individuals recover visual clarity within a few months of onset.  (For more information on this disorder, choose APMPPE as your search term in the Rare Disease Database.)", "therapies": "Diagnosis of Serpiginous Choroiditis may be made by clinical evaluation and specialized ophthalmologic examinations such as electroretinography, electro-oculography, and/or fluorescein angiography. Widespread wasting (atrophy) of the choroid and retinal pigment epithelium membranes of the eye, pigment clumping, and/or deposits of fibrous tissue under the retina are characteristic findings."}
{"OrphaCode": "ORPHA:96102", "name_zh": "10号染色体长臂远端三体", "Name": "Chromosome 10, Distal Trisomy 10q", "disease_name": "Chromosome 10, Distal Trisomy 10q", "synonyms": "chromosome 10, partial trisomy 10q24-qter", "disease-overview": "Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth); abnormally diminished muscle tone (hypotonia); mild to severe intellectual disability; and mild to severe delays in the acquisition of skills requiring coordination of mental and muscular activities. Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from person to person, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents.", "symptoms": "In individuals with chromosome 10, distal trisomy 10q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of one chromosome 10 (10q) is duplicated (trisomic). Symptoms and physical characteristics associated with the disorder may vary greatly in range and severity, depending upon the exact size and location of the duplicated portion of chromosome 10q. However, in most patients, the disorder is characterized by mild to severe intellectual disability; distinctive malformations of the head and facial (craniofacial) area; also, there are sometimes defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. It is important to note that affected infants will not have all of the abnormalities listed below.", "causes": "Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which part of the end (distal) portion of the long arm (q) of one chromosome 10 is duplicated. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 11p13 refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.", "affected": "Chromosome 10, distal trisomy 10q is an extremely rare but well-defined chromosomal disorder that appears to affect males and females at about the same rate. More than 35 cases have been reported in the medical literature since the disorder was originally described in 1974 (J.J. Yunis). Many of the symptoms and physical features associated with the disorder are apparent at birth (congenital).", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 10, Distal Trisomy 10q. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 10, Monosomy 10p is a very rare chromosomal disorder in which the end (distal) portion of the short arm (p) of one chromosome 10 is missing (deleted or monosomic). The disorder is characterized by growth delays and short stature, developmental delays, characteristic abnormalities of the head and facial (craniofacial) area, congenital heart defects, urinary tract malformations, and/or failure of one or both of the testes to descend into the scrotum (cryptorchidism) in affected males. Characteristic craniofacial malformations may include an abnormally small head (microcephaly) with an unusually prominent forehead (frontal bossing); a small, underdeveloped jaw (micrognathia); drooping of the upper eyelid(s) (ptosis); downslanting eyelid folds (palpebral fissures); small, misshapen ears; and/or other abnormalities. In most cases, the disorder is due to a spontaneous (de novo) genetic change (mutation) that occurs for unknown reasons (sporadic). (For more information on this disorder, choose Monosomy 10p as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1580", "name_zh": "10号染色体短臂远端单体", "Name": "Chromosome 10, Monosomy 10p", "disease_name": "Chromosome 10, Monosomy 10p", "synonyms": "10p deletion syndrome (partial)", "disease-overview": "Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distinctive malformations of the skull and facial (craniofacial) region; a short neck; and/or structural defects of the heart that are present at birth (congenital heart defects). Several cases have also been reported in which affected individuals have some features of DiGeorge syndrome (DGS). DGS is a congenital disorder characterized by underdevelopment or absence of the thymus and parathyroid glands, potentially causing abnormalities of the immune system, deficient production of parathyroid hormone (hypoparathyroidism), a heart defect, and associated findings. In many cases, chromosome 10, monosomy 10p appears to occur spontaneously (de novo) for unknown reasons.", "symptoms": "The symptoms and physical findings associated with chromosome 10, monosomy 10p may vary in range and severity from case to case. However, according to reports in the medical literature, most individuals with the disorder are affected by severe intellectual disability and delays in the acquisition of skills requiring the coordination of mental and motor activities (psychomotor retardation). Monosomy 10p is also frequently associated with growth delays after birth, resulting in short stature.", "causes": "Chromosome 10, monosomy 10p is a rare chromosomal abnormality in which there is deletion (monosomy) of the end (distal) portion of the short arm (p) of chromosome 10. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Chromosome 10, monosomy 10p is typically evident at birth (congenital). Since the disorder was originally reported in the medical literature in 1970, over 46 cases have been recorded. In such observed cases, males appear to be more frequently affected than females.", "related-disorders": "Symptoms of the following disorders may also be similar to those of chromosome 10, monosomy 10p. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 22, deletion 22q11.2 is a rare chromosomal disorder in which there is deletion of the long arm of chromosome 22. Individuals with deletions involving band q11.2 (i.e., DGCR) are affected by DiGeorge syndrome, including underdevelopment or absence of the thymus and potentially increased susceptibility to certain infections; hypoparathyroidism; and, in some cases, cardiovascular defects. Deletions that involve the end (distal) portion of chromosome 22q may also be associated with severe mental and psychomotor retardation; poor muscle tone (hypotonia); characteristic craniofacial features; and skeletal defects. Craniofacial abnormalities may include an abnormally small head (microcephaly); deeply set eyes; vertical skin folds that cover the eyes’ inner corners (epicanthal folds); low, full eyebrows and long eyelashes; a broad, bulbous nose; and an abnormally long vertical groove in the center of the upper lip (philtrum). Affected individuals may also have abnormal front-to-back curvature of the spine (kyphosis), unusually short fingers, and/or other abnormalities. This syndrome may appear to occur spontaneously (de novo) for unknown reasons or result from a parental balanced translocation involving chromosome 22q and another chromosome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:262092", "name_zh": "11号染色体长臂部分缺失", "Name": "Chromosome 11, Partial Monosomy 11q", "disease_name": "Chromosome 11, Partial Monosomy 11q", "synonyms": "11q- syndrome, partial", "disease-overview": "Partial monosomy 11q syndrome is a rare chromosomal disorder in which a portion of the long arm of chromosome 11 is deleted (missing). Jacobsen syndrome is observed in SOME  patients with 11q partial deletion. The region consistently missing in individuals with this disorder (JS) is band q24.1 (11q24.1) suggesting that the absence of this specific area is critical to developing the disorder (this chromosome region is called the Jacobsen syndrome critical region). It is important to stress that a complete genetic assessment requires both traditional chromosome tests (with or without the FISH staining technique), and CGH array.", "symptoms": "Symptoms and physical characteristics associated with partial monosomy 11q vary greatly depending on the exact size and gene content of the deleted material on chromosome 11. For a complete genetic assessment it is important that both traditional chromosome tests and CGH array are performed. No specific feature has been seen in every person, so it is important to note that affected children will not have all of the symptoms discussed below.", "causes": "Partial monosomy 11q is a rare disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Each human cell has 46 chromosomes: 23 are derived from the father and 23 from the mother. Pairs of human chromosomes are numbered from 1 through 22, and the additional 23rd pair is that of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated p and a long arm designated q. When stained, chromosomes are further sub-divided into many bands that are numbered. The numbered bands specify the location of the thousands of genes that are present on each chromosome.", "affected": "Partial monosomy 11q is an extremely rare chromosomal disorder that is apparent at birth. The disorder was initially described in the medical literature in 1973. Since that time, more than 200 cases have been described in the medical literature. According to some sources, more females are affected than males. The prevalence has been estimated at 1/100,000 births.", "related-disorders": "Symptoms of the following disorders can be similar to those of partial monosomy 11q. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Partial monosomy 11q may be diagnosed based upon a thorough clinical evaluation, the identification of characteristic physical findings, including low platelets and chromosomal studies and/or array comparative genomic hybridization (CGH) studies that demonstrate missing (deleted) material on chromosome 11q. Chromosome studies can be done on a blood sample. Chromosomes are analyzed after a laboratory procedure that includes a culture of cells obtained from a small amount of blood, and staining procedures. These chromosomes are stained so that they can be viewed more easily and are then examined under a microscope where the missing segment of chromosome 11q can be detected (high resolution karyotype). To determine the precise breakpoint on 11q, more a sensitive test may be necessary such as: fluorescent in situ hybridization (FISH), a diagnostic test in which probes marked by a specific color of fluorescent dye attach to a specific chromosome allowing researchers to better view that specific region of a chromosome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:262923", "name_zh": "11号染色体长臂部分重复", "Name": "Chromosome 11, Partial Trisomy 11q", "disease_name": "Chromosome 11, Partial Trisomy 11q", "synonyms": "11q Partial Trisomy", "disease-overview": "Chromosome 11, Partial Trisomy 11q is a rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 11th chromosome appears three times (trisomy) rather than twice in cells of the body. Although associated symptoms and findings may vary, the disorder is often associated with delayed growth before and after birth (prenatal and postnatal growth retardation); varying degrees of mental retardation; distinctive abnormalities of the skull and facial (craniofacial) region; and/or other features. Chromosomal analysis is necessary for a definite diagnosis.", "symptoms": "Chromosome 11, Partial Trisomy 11q is commonly characterized by growth retardation before and after birth, delayed acquisition of skills requiring the coordination of mental and motor activities (psychomotor retardation), mild to moderate mental retardation, and distinctive craniofacial abnormalities.", "causes": "In individuals with Chromosome 11, Partial Trisomy 11q, the end (distal) region of the long arm (q) of chromosome 11 is present three times (i.e., trisomic or duplicated) rather than twice in cells of the body.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Chromosome 11, Partial Trisomy 11q is a very rare chromosomal disorder that is reported to affect more females than males.  Approximately 45 cases of this disorder have been documented in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chromosome 11, Partial Trisomy 11q.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Many chromosomal disorders have features similar to Chromosome 11, Partial Trisomy 11q.  The only way to determine which chromosomal disorder an individual has is through genetic testing.  (For more information on these disorders, choose Chromosomal Disorder as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1590", "name_zh": "13号染色体长臂远端单体", "Name": "Chromosome 13, Partial Monosomy 13q", "disease_name": "Chromosome 13, Partial Monosomy 13q", "synonyms": "13q- Syndrome, Partial", "disease-overview": "Chromosome 13, Partial Monosomy 13q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 13 is missing (deleted or monosomic). The range and severity of symptoms may vary greatly, depending upon the exact size and location of the deletion on 13q. Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities. Affected infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as varying degrees of intellectual disability. In the majority of cases, Chromosome 13, Partial Monosomy 13q appears to occur randomly, for no apparent reason (sporadic).", "symptoms": "In Chromosome 13, Partial Monosomy 13q, a rare chromosomal disorder, a portion of the long arm (q) of chromosome 13 is missing (deleted). Symptoms and physical characteristics associated with the disorder may vary greatly, depending upon the exact size and location of the deletion (monosomy) on chromosome 13q.", "causes": "Chromosome 13, Partial Monosomy 13q is a rare chromosomal abnormality in which a portion of the long arm (q) of chromosome 13 is missing (deleted). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered. For example, 13q32 refers to band 32 on the long arm of chromosome 13.", "affected": "Chromosome 13, Partial Monosomy 13q appears to affect females slightly more frequently than males. Although rare, deletions involving chromosome 13q are among the most commonly observed monosomies. Since the disorder was originally reported in 1963, more than 125 cases have been recorded in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Chromosome 13, Partial Monosomy 13q. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 13 Ring is a rare chromosomal disorder in which chromosome 13 breaks at both ends (i.e., the ends of the long arm [13q] and the short arm [13p]). The chromosomal ends then join together, forming a ring. Affected infants often exhibit a low birth weight, growth deficiency, psychomotor retardation, and/or intellectual impairment. In addition, they may also have distinctive abnormalities of the head and facial (craniofacial) area such as an abnormally small head (microcephaly), a wide, flat nasal bridge, an unusually prominent upper jaw (maxilla); protruding front teeth (incisors), large, low-set ears, and/or other craniofacial malformations. In some cases, affected individuals may also exhibit abnormalities of the eyes, which may include retinoblastoma in some cases; genital malformations in males; trigonocephaly and/or brain malformations, skeletal abnormalities, congenital heart defects; and/or additional physical abnormalities. Most cases of Chromosome 13 Ring appear to be due to a spontaneous (de novo) genetic change (mutation) very early in embryonic development that occurs for unknown reasons (sporadic).", "therapies": "In some cases, the diagnosis of Chromosome 13, Partial Monosomy 13q may be determined before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. During chorionic villus sampling, a tissue sample is removed from a portion of the placenta. Chromosomal studies performed on this fluid or tissue sample may indicate a partial monosomy of chromosome 13q."}
{"OrphaCode": "ORPHA:1440", "name_zh": "14号环状染色体综合征", "Name": "Chromosome 14 Ring", "disease_name": "Chromosome 14 Ring", "synonyms": "r14", "disease-overview": "Chromosome 14 Ring is a rare disorder that is characterized by abnormalities of the 14th chromosome. Affected infants and children typically have delays in the acquisition of skills that require the coordination of physical and mental activities (psychomotor delays), mental retardation, growth delays, and episodes of uncontrolled electrical activity in the brain (seizures). The disorder is also characterized by distinctive abnormalities of the head and facial (craniofacial) area. Such abnormalities may include an unusually small head (microcephaly) with a high forehead; an elongated face; widely spaced eyes (ocular hypertelorism); a thin upper lip; a flat nasal bridge with a prominent nasal tip; and large, low-set ears.", "symptoms": "The symptoms and findings associated with Chromosome 14 Ring may vary in range and severity from case to case.  However, in many individuals with the disorder, such abnormalities may include growth delays before and after birth (prenatal and postnatal growth retardation), diminished muscle tone (hypotonia), feeding difficulties during infancy, psychomotor delays, and mental retardation.  In addition, recurrent seizures (epilepsy) typically develop beginning during infancy or early childhood.  The specific form a seizure takes and its associated symptoms may vary, depending upon the region(s) of the brain affected and other factors.  For example, seizure episodes may be characterized by shock-like contractions of certain muscles or muscle groups (myoclonic seizures); increased stiffness (rigidity) and rapid, rhythmic contraction and relaxation of certain muscle groups (tonic-clonic seizures); sensory or behavioral disturbances; lost consciousness; and/or impaired control of certain voluntary functions, such as bowel or bladder control.  (For more information, please choose epilepsy as your search term in the Rare Disease Database.)", "causes": "Chromosome 14 Ring results from loss (deletion) of genetic material from both ends of the 14th chromosome and joining of the ends to form a ring.  Associated symptoms and findings may vary, depending upon the amount of genetic material lost from the 14th chromosome or the stability of the ring chromosome during subsequent cellular divisions (i.e., mitosis).  Evidence suggests that features associated with Chromosome 14 Ring may result from relatively small deletions of genetic material from the long arm (q) of chromosome 14 (14q).", "affected": "Chromosome 14 Ring is an extremely rare chromosomal disorder that has appeared to affect males slightly more often than females.  There have been over 40 cases reported in the medical literature.", "related-disorders": "Additional chromosomal disorders may have features similar to those associated with Chromosome 14 Ring.  Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, a diagnosis of Chromosome 14 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 14 Ring.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1703", "name_zh": "14号染色体嵌合三体", "Name": "Chromosome 14, Trisomy Mosaic", "disease_name": "Chromosome 14, Trisomy Mosaic", "synonyms": "Trisomy 14 Mosaic", "disease-overview": "Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term mosaic indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair.", "symptoms": "The symptoms and physical findings associated with Chromosome 14, Trisomy Mosaic may depend on the percentage of cells containing the extra 14th chromosome. However, the syndrome is typically characterized by growth and developmental delays, mental retardation, distinctive craniofacial malformations, and/or other physical abnormalities.", "causes": "In individuals with Chromosome 14, Trisomy Mosaic, chromosome 14 is present three times (trisomy) rather than twice in some cells of the body (mosaicism).  Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere).", "affected": "In observed cases, Chromosome 14, Trisomy Mosaic has appeared to affect females more frequently than males. Since the chromosomal syndrome was originally described in the medical literature, over 20 cases have been reported.", "related-disorders": "Other chromosomal disorders may be characterized by symptoms and findings similar to those potentially associated with Chromosome 14, Trisomy Mosaic.  Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such chromosomal disorders, choose the name of the specific disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of Chromosome 14, Trisomy Mosaic may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasonography may reveal characteristic findings that suggest Chromosome 14, Trisomy Mosaic, such as excessive fluid in the membranous sac surrounding the developing fetus (polyhydramnios), growth retardation, and/or certain physical malformations (e.g., cleft palate). During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on the fluid or tissue samples may reveal the presence of Chromosome 14, Trisomy Mosaic.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:96177", "name_zh": "15号环状染色体综合征", "Name": "Chromosome 15 Ring", "disease_name": "Chromosome 15 Ring", "synonyms": "r15", "disease-overview": "Chromosome 15 Ring results from loss (deletion) of genetic material from both ends of the 15th chromosome and a joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered.", "symptoms": "Although associated features may be variable, Chromosome 15 Ring is commonly characterized by growth delays before and after birth, resulting in short stature (dwarfism); varying degrees of mental retardation; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities.", "causes": "Chromosome 15 Ring results from loss (deletion) of genetic material from both ends of the 15th chromosome and a joining of the ends to form a ring.  Chromosomes are found in the nucleus of all body cells except red blood cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Since Chromosome 15 Ring was originally described, at least 25 cases have been recorded in the medical literature.  In such observed cases, females appear to be affected more frequently than males.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 15 Ring.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Russell-Silver syndrome (RSS) is a rare genetic disorder characterized by growth delays before and after birth, leading to short stature (dwarfism); overgrowth of one side of the body (hemihypertrophy) that may affect the head, trunk, arms, and/or legs; distinctive craniofacial features; and other physical abnormalities.  Characteristic craniofacial malformations may include a triangular-shaped face with a small, pointed chin; a prominent forehead (frontal bossing); bluish discoloration of the whites of the eyes (blue sclera); an unusually small, wide mouth with downwardly turned corners; and/or a small jaw (micrognathia).  In some cases, additional physical abnormalities may include abnormal deviation or incurving (clinodactyly) of the fifth fingers; webbing or fusion (syndactyly) of certain toes; underdevelopment (hypoplasia) of bones of the fingers (phalanges); coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidneys and urinary tract.  In addition, although most affected individuals have normal intelligence, mild mental retardation may sometimes be present.  In most cases, RSS is thought to result from new genetic changes (mutations) that occur randomly for unknown reasons (sporadically).  Less commonly, it appears that the disorder may be inherited as an autosomal recessive trait.  In addition, a rare form of RSS has been identified that is thought to be inherited as an X-linked dominant trait.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1707", "name_zh": "15号染色体长臂远端三体", "Name": "Chromosome 15, Distal Trisomy 15q", "disease_name": "Chromosome 15, Distal Trisomy 15q", "synonyms": "Chromosome 15, Trisomy 15q2", "disease-overview": "Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by growth delays before and/or after birth (prenatal and/or postnatal growth retardation); mental retardation; and/or distinctive malformations of the head and facial (craniofacial) area. Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other skeletal malformations; genital abnormalities, particularly in affected males; and/or, in some cases, heart (cardiac) defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents.", "symptoms": "In individuals with Chromosome 15, Distal Trisomy 15q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of chromosome 15 (15q) is duplicated (trisomic).  Symptoms and physical characteristics associated with the disorder may vary in range and severity, depending upon the exact size and location of the duplicated portion of chromosome 15q.", "causes": "Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells except red blood cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered.  For example, 15q21 refers to band 21 on the long arm of chromosome 15.", "affected": "Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder that is thought to affect males approximately twice as often as females.  Since the disorder was originally described in the medical literature in 1974 (A. Fujimoto), more than 30 cases have been reported in the literature.  The majority of symptoms and physical features associated with the disorder are apparent at birth.", "related-disorders": "Other chromosomal disorders may be characterized by prenatal and postnatal growth retardation, mental retardation, distinctive craniofacial abnormalities, genital malformations, congenital heart defects, and/or other abnormalities similar to those potentially associated with Chromosome 15, Distal Trisomy 15q. Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, the diagnosis of Chromosome 15, Distal Trisomy 15q may be determined before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. During chorionic villus sampling, a tissue sample is removed from a portion of the placenta. Chromosomal studies performed on this fluid or tissue sample may reveal the presence of Distal Trisomy 15q.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1442", "name_zh": "18号环状染色体综合征", "Name": "Chromosome 18 Ring", "disease_name": "Chromosome 18 Ring", "synonyms": "r 18", "disease-overview": "Chromosome 18 Ring is a rare disorder in which there is loss (deletion) of genetic material from one or both ends of the 18th chromosome and joining of the chromosomal ends to form a ring.  Associated symptoms and findings may vary greatly in range and severity from case to case, depending upon the amount and location of lost genetic material and other factors. A ring may also be formed without the loss of any genetic material. However, many individuals with the disorder are affected by mental retardation; low muscle tone (hypotonia); growth retardation; repeated infections during the first years of life; and/or malformations of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), widely spaced eyes (ocular hypertelorism), and/or vertical skin folds that cover the eyes’ inner corners (epicanthal folds). Chromosome 18 Ring is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically).", "symptoms": "As mentioned above, associated symptoms and physical features may be extremely variable.   For example, there have been a few cases in which individuals with Chromosome 18 Ring have few or no apparent symptoms.  However, others with the chromosomal abnormality may have multiple, severe features of the disorder.  In most affected individuals, characteristic features include moderate to severe mental retardation; growth delays; poor muscle tone (hypotonia); craniofacial malformations; eye abnormalities; and/or an increased susceptibility to certain infections.", "causes": "Chromosome 18 Ring results from loss (deletion) of genetic material from one or both ends of the 18th chromosome and a joining of the ends to form a ring.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Since Chromosome 18 Ring was originally described, more than 70 cases have been reported in the medical literature.  In these observed cases, females appear to be affected slightly more often than males.  The disorder is often detected at birth or during prenatal testing.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 18 Ring.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ultrasound will indicate that something unusual is happening to the fetus. The diagnosis of Chromosome 18 Ring is made before birth (prenatally) by specialized tests such as amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During fetal blood sampling, blood is drawn with a needle that is guided via ultrasound into the umbilical vein. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta.  Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 18 Ring.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1598", "name_zh": "18号染色体短臂单体", "Name": "Chromosome 18, Monosomy 18p", "disease_name": "Chromosome 18, Monosomy 18p", "synonyms": "18p Deletion Syndrome", "disease-overview": "Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities. Associated craniofacial defects may vary greatly in range and severity from case to case. However, such features commonly include an unusually small head (microcephaly); a broad, flat nose; a carp-shaped mouth; large, protruding ears; widely spaced eyes (ocular hypertelorism); and/or other abnormalities. Rarely (i.e., in about 10 percent of cases), Monosomy 18p may be associated with holoprosencephaly, a condition in which the forebrain (prosencephalon) fails to divide properly during embryonic development. Holoprosencephaly may result in varying degrees of mental retardation, other neurologic findings, and/or extremely variable midline facial defects, such as the presence of a single, central front tooth (maxillary incisor); closely spaced eyes (hypotelorism); an abnormal groove in the upper lip (cleft lip); incomplete closure of the roof of the mouth (cleft palate); and/or, in severe cases, absence of the nose and/or cyclopia. Cyclopia is characterized by fusion of the eye cavities (orbits) into a single cavity containing one eye.", "symptoms": "The symptoms and physical findings associated with Chromosome 18, Monosomy 18p may be variable from case to case.  However, the syndrome is typically characterized by short stature, mental retardation, various malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities.", "causes": "Chromosome 18, Monosomy 18p is a chromosomal abnormality in which there is deletion (monosomy) of all or a portion of the short arm (p) of chromosome 18.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Chromosome 18, Monosomy 18p appears to affect females more frequently than males by a ratio of approximately three to two.  Reports indicate that the mean parental age is older than average for the mothers and fathers of children with Monosomy 18p (i.e., age 32 years and 38 years, respectively).  Since Monosomy 18p was originally described in 1963, over 120 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 18, Monosomy 18p.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some cases, Chromosome 18, Monosomy 18p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta.  Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 18p.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3307", "name_zh": "18p等臂染色体", "Name": "Chromosome 18, Tetrasomy 18p", "disease_name": "Chromosome 18, Tetrasomy 18p", "synonyms": "Tetrasomy, Short Arm of Chromosome 18", "disease-overview": "Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder in which the short arm of the 18th chromosome (18p) appears four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 18th chromosomes, both of which have a short arm (18p) and a long arm (18q). However, in individuals with Chromosome 18, Tetrasomy 18p, four short arms (18ps) are present in cells of the body rather than the normal two.", "symptoms": "Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder in which the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than twice in cells of the body.  Symptoms may vary from case to case.", "causes": "Chromosome 18, Tetrasomy 18p is a rare chromosomal disorder in which the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Chromosome 18, Tetrasomy 18p is a very rare chromosomal disorder that appears to affect males and females equally.  Approximately 40 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 18, Tetrasomy 18p. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of Chromosome 18, Tetrasomy 18p may be determined before birth (prenatally) by specialized tests such as ultrasound, fetal blood sampling, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During fetal blood sampling, blood is drawn with a needle that is guided via ultrasound into the umbilical vein. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on fluid or tissue samples (i.e., obtained via fetal blood sampling, amniocentesis, or CVS) may reveal the presence of Chromosome 18p Tetrasomy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1600", "name_zh": "18号染色体长臂单体", "Name": "Chromosome 18q- Syndrome", "disease_name": "Chromosome 18q- Syndrome", "synonyms": "18q Deletion Syndrome", "disease-overview": "Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in range and severity from case to case. However, characteristic features include short stature; mental retardation; poor muscle tone (hypotonia); malformations of the hands and feet; and abnormalities of the skull and facial (craniofacial) region, such as a small head (microcephaly), a carp-shaped mouth, deeply set eyes, prominent ears, and/or unusually flat, underdeveloped midfacial regions (midfacial hypoplasia). Some affected individuals may also have visual abnormalities, hearing impairment, genital malformations, structural heart defects, and/or other physical abnormalities. Chromosome 18q- syndrome usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).", "symptoms": "As noted above, associated symptoms and findings may vary from case to case.  However, many infants with the disorder have a low birth weight and growth delays after birth, resulting in short stature.  In addition, Chromosome 18q- syndrome is often characterized by low muscle tone (hypotonia); sudden episodes of uncontrolled electrical activity in the brain (seizures); moderate to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and varying degrees of mental retardation.  Evidence suggests that most individuals with the disorder are affected by profound, severe, or moderate mental retardation.  However, mild mental deficiency has been reported in some cases.  In addition, some affected children may have behavioral problems, such as abnormally increased activity (hyperactivity), aggressive behavior, and tantrums.", "causes": "Chromosome 18q- syndrome is a chromosomal disorder in which there is deletion (monosomy) of part of the long arm (q) of chromosome 18.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.  For example, 18q21 refers to band 21 of the long arm of chromosome 18.", "affected": "Chromosome 18q- syndrome appears to affect females more frequently than males by a ratio of approximately three to two.  Since the disorder was originally reported in the medical literature in 1964, more than 80 cases have been recorded.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 18q- syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some cases, Chromosome 18q- syndrome may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 18q.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1445", "name_zh": "环状21号染色体综合征", "Name": "Chromosome 21 Ring", "disease_name": "Chromosome 21 Ring", "synonyms": "r21", "disease-overview": "Chromosome 21 Ring is a rare chromosomal disorder in which the affected infant has a breakage of chromosome 21 at both ends, and the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with very little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing may have many symptoms. When symptoms of the disorder are present, the affected infant may have mental retardation as well as abnormalities of the face, eyes, skeleton, and/or internal organs.", "symptoms": "The symptoms and findings associated with Chromosome 21 Ring may be extremely variable, depending upon the amount and location of genetic material lost from the 21st chromosome and other factors.  As a result, some individuals with Chromosome 21 Ring may have few or no associated symptoms, whereas others may have severe physical abnormalities and mental retardation.", "causes": "Chromosome 21 Ring results from loss (deletion) of genetic material from both ends of the 21st chromosome and joining of the ends to form a ring.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "Chromosome 21 Ring is a rare chromosomal disorder that appears to affect males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 21 Ring. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Down Syndrome is a chromosomal disorder in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body.  Associated symptoms may vary greatly, depending on the length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the abnormality.  However, many affected infants may have low muscle tone (hypotonia), a poor startle (Moro) reflex, excessive flexibility of the joints, and distinctive malformations of the head and facial (craniofacial) area.  Craniofacial abnormalities may include a short, small head (microbrachycephaly); upwardly slanting eyelid folds (palpebral fissures); a small nose with a depressed nasal bridge; a relatively flat facial profile; and excessive skin on the back of the neck.  Down Syndrome may also be characterized by abnormalities of the extremities, short stature, mental retardation, hearing impairment, and/or structural malformations of the heart.   In addition, those with the disorder may have an increased susceptibility to respiratory disease (e.g., pneumonia), other infectious diseases, and malignancies in which there is an increased proliferation of certain white blood cells (leukemia).  (For further information, use Down or trisomy 21 as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1446", "name_zh": "环染色体22综合征", "Name": "Chromosome 22 Ring", "disease_name": "Chromosome 22 Ring", "synonyms": "r(22)", "disease-overview": "Ring chromosome 22 is a rare genetic condition that occurs when one chromosome 22 forms a circular or ring, structure. The ring forms after loss (deletion) of genetic material from both the short arm and long arm of chromosome 22. The size of the deletion is variable, ranging from less than 100kb to greater than 10Mb. The clinical features are also variable but typically include developmental delay, poor muscle tone (hypotonia), severe speech delay and minor physical features such as large ears and bulbous nose. The ring chromosome typically occurs de novo, meaning that it is a new event in the child and was not inherited. Chromosome studies and genetic counseling are indicated for parents of a child with a ring chromosome to determine if the ring was inherited and to provide important information about what the ring will mean for the development and medical care of their child.  People with ring 22 are at risk of developing neurofibromatosis type 2 (NF2). Treatment is directed to the specific signs and symptoms that the affected person has.", "symptoms": "The first indication that a child has ring chromosome 22 may be poor muscle tone (hypotonia). An infant may have trouble feeding, holding their head up and staying in a sitting position. As the child grows, other motor milestones such as crawling and walking will be delayed and the child may exhibit poor coordination, lack of balance and an unsteady gait. Moderate to profound intellectual disability is common, as is severely delayed or absent speech. Autism or autistic-like behavior is frequently seen. Mood disorders and other behavioral issues including aggression and hyperactivity have also been described.", "causes": "Ring chromosome 22 is formed when genetic material is lost (deleted) from both ends of chromosome 22 and the broken ends fuse to form a circular chromosome or ring. Chromosomes typically are rod-like structures that are found in the nucleus of our body cells. They are composed of genetic material (DNA) and proteins, and their function is to transmit genetic information from generation to generation. The normal chromosome number is 46, or 23 pairs of chromosomes, with one member of each pair inherited from the mother and the other from the father. The chromosomes numbered from 1 to 22, according to length from longest to shortest, are called autosomes. The remaining pair of chromosomes are the sex chromosomes which are XX in females and XY in males.", "affected": "Ring chromosome 22 is a rare genetic condition with over 60 cases in the medical literature since 1968. Males and females are equally likely to be affected.", "related-disorders": "Phelan-McDermid syndrome (PMS) is a rare genetic disorder resulting from a deletion of the distal long arm of chromosome 22 or from a pathogenic variant of the SHANK3 gene located at 22q13. PMS is characterized by mild to profound intellectual impairment, motor delay, absent to severely delayed speech, neonatal hypotonia, autism or autistic-like features and mild physical features.", "diagnosis": "There are two common methods used when a chromosome disorder is suspected. One is chromosomal microarray (CMA) and the other is next-generation sequencing (NGS). These are called molecular genetic tests because they diagnose conditions at the level of the DNA molecule. Two techniques are sometimes used to confirm the results of CMA and NGS. One is FISH (fluorescence in situ hybridization) which is a targeted method to determine if a segment of DNA is present or absent. FISH can be performed on uncultured cells or on chromosomes derived from cultured cells. The other technique is chromosome analysis which relies on counting the number of chromosomes in a subset of cells and examining chromosome structure to determine if an abnormality is present. Chromosome analysis (sometimes called karyotyping) is the only method that permits visualization of the ring chromosome at the microscope.", "therapies": "Therapies should be designed to address the needs of each individual. Early intervention programs are available for babies and young children with developmental delays. These may include physical therapy, occupational therapy, speech therapy and other therapies as the child develops. Behavior therapies may be more intense in children with autism or autistic-like features. Adaptive sports, such as swimming and horseback riding, may help improve muscle tone, coordination and balance."}
{"OrphaCode": "ORPHA:261330", "name_zh": "22q11.2远端微缺失综合征", "Name": "Chromosome 22q11.2 Deletion Syndrome", "disease_name": "Chromosome 22q11.2 Deletion Syndrome", "synonyms": "autosomal dominant Opitz G/BBB syndrome", "disease-overview": "", "symptoms": "Disorders with more than one identifying feature are called syndromes. 22q11.2DS has numerous features associated with it, not all of which will be present in every affected individual.", "causes": "Individuals with 22q11.2DS are missing a small part of chromosome 22. The deletion occurs at a specific location on the long arm (q arm) of chromosome 22 (region 22q11) and often includes a deletion of genes in the DiGeorge chromosomal region (DGCR). The majority of individuals (85%) have a common, standard-size deletion of approximately 3 megabases (Mb). However, 15% of individuals with 22q11.2DS have a deletion of a smaller size, often referred to as nested or distal deletions. These individuals present with nearly the same spectrum of findings as those individuals with the standard deletion.", "affected": "The prevalence of 22q11.2DS has been estimated to be approximately 1/3000 to 1/6,000 live births. These numbers may well be higher due to the variability of the condition, difficulty in properly diagnosing, and lack of newborn screening.", "related-disorders": "Symptoms of the following disorders can be similar to those of 22q11.2DS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate intellectual disability and multiple birth defects including cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even in the same family, and some have normal development and only minor birth defects. SLOS is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. (For more information on this disorder choose SLOS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1620", "name_zh": "3号染色体短臂远端单体", "Name": "Chromosome 3, Monosomy 3p", "disease_name": "Chromosome 3, Monosomy 3p", "synonyms": "Chromosome 3, Deletion of Distal 3p", "disease-overview": "Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (craniofacial) region; eyebrows that grow together (synophrys); and/or excessive hair growth (hypertrichosis). Additional physical abnormalities may also be present. In many cases, Chromosome 3, Monosomy 3p appears to occur spontaneously (de novo) for unknown reasons.", "symptoms": "As noted above, the symptoms and physical findings associated with Chromosome 3, Monosomy 3p may vary in range and severity from case to case.  However, according to reports in the medical literature, many affected individuals have a low birthweight; marked growth delays after birth (postnatal growth retardation); severe to profound mental retardation; severe delays in the acquisition of skills requiring the coordination of mental and motor activities (psychomotor retardation); excessive hair growth (hypertrichosis); and/or distinctive malformations of the skull and facial (craniofacial) region.", "causes": "Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which there is deletion (monosomy) of the end (distal) portion of the short arm (p) of chromosome 3.  Researchers indicate that symptoms and findings characteristic of the syndrome result from deletion of chromosomal material extending from band 25 on the short arm of chromosome 3 (breakpoint) to the end or terminal of 3p (3p25–>pter).  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.  Therefore, 3p25 refers to band 25 on the short arm of chromosome 3.", "affected": "Chromosome 3, Monosomy 3p appears to affect males and females in relatively equal numbers.  Since the disorder was originally reported in 1978 (Verjaal M), approximately 34 cases have been described in the medical literature.", "related-disorders": "Additional chromosomal disorders may have features similar to those associated with Chromosome 3, Monosomy 3p.  Chromosomal analysis is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, Chromosome 3, Monosomy 3p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta.  Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 3p.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:251038", "name_zh": "染色体3q29微重复综合征", "Name": "Chromosome 3, Trisomy 3q2", "disease_name": "Chromosome 3, Trisomy 3q2", "synonyms": "Chromosome 3, Distal 3q2 Duplication", "disease-overview": "Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder in which a portion of the 3rd chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may be variable, depending upon the specific length and location of the duplicated (trisomic) portion of chromosome 3. However, many affected infants and children have developmental delays, mental retardation, and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Such craniofacial abnormalities may include a relatively short head (brachycephaly), widely spaced eyes (ocular hypertelorism), upwardly slanting eyelid folds (palpebral fissures), and a small nose with upturned nostrils (anteverted nares). Affected infants and children also tend to have long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low hairline on the forehead and the back of the neck; and generalized excessive hair growth (hirsutism). Chromosome 3, Trisomy 3q2 may also be characterized by eye (ocular) abnormalities, limb defects, structural heart malformations (congenital heart defects), or other physical features.", "symptoms": "The symptoms and physical findings associated with Chromosome 3, Trisomy 3q2 may be variable.  However, in many cases, the disorder is characterized by mental retardation, moderate to severe developmental delays, abnormally diminished muscle tone (hypotonia), distinctive abnormalities of the head and facial (craniofacial) area, and/or additional physical abnormalities.  According to reports in the medical literature, craniofacial features and other physical abnormalities associated with Trisomy 3q2 are often very similar to those associated with a rare genetic disorder known as Cornelia de Lange syndrome.  (For further information on Cornelia de Lange syndrome, please see the Related Disorders section of this report below.)", "causes": "In individuals with Chromosome 3, Trisomy 3q2, all or a portion of the end (distal) region of the long arm (q) of chromosome 3 is present three times (trisomy) rather than twice in cells of the body.  (This distal region is sometimes referred to as chromosome 3q2.)  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.  For example, 3q26 refers to band 26 within the distal region of the long arm of chromosome 3.", "affected": "Chromosome 3, Trisomy 3q2 appears to affect males and females in equal numbers. At least 50 cases have been reported in the medical literature.  In some cases, the disorder may be suspected before birth (prenatally) based upon the results of specialized tests.  (For further information, please see the Standard Therapies section of this report below.)  The disorder is usually detected or confirmed at birth or during early infancy based upon characteristic symptoms and physical findings.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 3, Trisomy 3q2. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In some cases, a diagnosis of Chromosome 3, Trisomy 3q2 may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed. CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on cells from the fluid or tissue samples may reveal the presence of Trisomy 3q2.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:96096", "name_zh": "4号染色体长臂远端三体", "Name": "Chromosome 4, Partial Trisomy Distal 4q", "disease_name": "Chromosome 4, Partial Trisomy Distal 4q", "synonyms": "Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included)", "disease-overview": "Chromosome 4, Partial Trisomy Distal 4q is a rare chromosomal disorder in which a portion of the fourth chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary from case to case. However, common features include growth deficiency; mental retardation; distinctive malformations of the skull and facial (craniofacial) region, including an unusually small head (microcephaly), malformed ears, and a prominent nasal bridge; and/or defects of the hands and feet. In some cases, additional physical abnormalities may also be present, such as structural defects of the heart that are present at birth (congenital heart defects); genital abnormalities in affected males; urinary tract defects; and/or other findings. In most cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; rarely, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).", "symptoms": "Chromosome 4, Partial Trisomy Distal 4q is commonly characterized by a low birth weight and growth deficiency.  In addition, many affected infants have low muscle tone (hypotonia), with unusual floppiness of voluntary (skeletal) muscles, or excessive muscle tone (hypertonia), with increased resistance to passive stretching.  Additional characteristic features include mental retardation and delays in the acquisition of skills that require the coordination of mental and motor activities (psychomotor retardation).", "causes": "In individuals with Chromosome 4, Partial Trisomy Distal 4q, an end (distal) region of the long arm (q) of the fourth chromosome appears three times (trisomy) rather than twice in cells of the body.  Distal indicates away or farthest from a particular point of reference, meaning the chromosome’s centromere (described below).", "affected": "In observed cases, Chromosome 4, Partial Trisomy Distal 4q has appeared to affect males and females in relatively equal numbers. More than 60 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 4, Partial Trisomy Distal 4q. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times rather than twice in cells of the body.  Associated symptoms and findings may vary in range and severity from case to case.  However, features commonly include growth deficiency, severe mental retardation, psychomotor retardation, and characteristic craniofacial malformations.  Such craniofacial defects may include an abnormally small head (microcephaly); large, malformed ears; a bulbous nose; widely spaced eyes (ocular hypertelorism); a prominent chin; a short neck; and/or other findings.  The disorder may also be characterized by skeletal, genital, cardiac, renal, and/or additional physical abnormalities.  In many cases, Chromosome 4, Partial Trisomy 4p is due to a balanced chromosomal rearrangement in one of the parents. Other cases have appeared to result from spontaneous (de novo) errors early in embryonic development. (For more information on this disorder, choose Trisomy 4p as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1738", "name_zh": "4号染色体短臂三体", "Name": "Chromosome 4, Trisomy 4p", "disease_name": "Chromosome 4, Trisomy 4p", "synonyms": "Chromosome 4, Partial Trisomy 4p", "disease-overview": "Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and physical findings may vary greatly in range and severity from case to case. Such variability may depend upon the specific length and location of the duplicated (trisomic) portion of chromosome 4p as well as other factors. However, many affected infants may have feeding and breathing difficulties, characteristic malformations of the head and facial (craniofacial) area, and abnormalities of the hands and feet. Additional features may include other skeletal defects, genital abnormalities in affected males, or heart (cardiac) defects. Trisomy 4p is also characterized by severe mental retardation.", "symptoms": "The symptoms and physical findings associated with Chromosome 4, Trisomy 4p may be variable.  However, in many cases, the disorder is characterized by growth deficiency before and after birth (prenatal and postnatal growth retardation); feeding problems during early infancy; and increased muscle tone (hypertonia) in the first months of life, followed by diminished muscle tone (hypotonia).  Affected infants may also have respiratory difficulties, potentially leading to life-threatening complications.", "causes": "In individuals with Chromosome 4, Trisomy 4p, all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere).  Chromosomes are further subdivided into bands that are numbered outward from the centromere.  For example, the short arm of chromosome 4 includes bands 4p11 to 4p16; the latter, which is the end or terminal band of 4p, is also known as 4pter.", "affected": "Chromosome 4, Trisomy 4p appears to affect males and females in relatively equal numbers.  Trisomy for the short arm of chromosome 4 was originally described in 1970 (Wilson MG) and delineated as a distinct clinical syndrome in 1977 (Gonzalez CH).  More than 85 patients with the syndrome have been reported in the medical literature.", "related-disorders": "Many chromosomal disorders may have features similar to those associated with Chromosome 4, Trisomy 4p.  Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, a diagnosis of Trisomy 4p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on the fluid or tissue samples may reveal the presence of Trisomy 4p.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:238750", "name_zh": "染色体4q21微缺失综合征", "Name": "Chromosome 4q Deletion", "disease_name": "Chromosome 4q Deletion", "synonyms": "chromosome 4 long arm deletion", "disease-overview": "", "symptoms": "Patients with chromosome 4q deletion may have the following symptoms: unusual skull shape, short nose with unusual bridge, low-set ears that may not have formed well, cleft in the roof of the mouth, short breastbone, poor or delayed growth, moderate to severe intellectual disability, heart defects, unusual heart rhythm (arrhythmia), defective urinary and reproductive organs (genitourinary defects), small size, small hands and feet, unusually wide-set eyes (hypertelorism), a pointed fifth finger and nail which is common for this disorder, and decreased muscle tone (hypotonia). Some children may have a small jaw (micrognathia) which results in difficulties with breathing. There may be unusual brain findings (corpus callosum). In some patients, slow growth and intellectual disability may be present without obvious physical abnormalities, making it difficult to recognize this disorder.", "causes": "Genetic information, DNA, lies within almost every cell in the body and provides the instructions for how each tissue functions. DNA includes genes, which are responsible for making the proteins that have specific jobs within certain tissues of the body. This DNA is tightly wound and contained within structures called chromosomes. Most people are born with 23 pairs (46 total) of chromosomes in every cell of the body. Each of these 46 chromosomes has a long piece, called arm q, and a short piece, called arm p. Chromosome 4q deletion is caused by a partial missing piece of the long arm of chromosome 4. This chromosome deletion is usually not inherited, but occurs for the first time in the affected person. However, it is possible to pass the deletion to children.", "affected": "Chromosome 4q deletion is a rare disorder that is present at birth and is estimated to occur in 1 out of 100,000 people. Chromosome 4q deletion can sometimes be identified before birth by ultrasound and prenatal chromosome analysis. The condition affects males and females in equal numbers. It is not currently known to affect certain ethnicities more than others. There is typically no family history of the condition, and it occurs randomly.", "related-disorders": "Other chromosomal disorders may be similar to chromosome 4q deletion. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Wolf-Hirschorn syndrome (4p-syndrome) is a chromosomal disorder caused by a partial deletion of part of the short arm of chromosome 4. Major symptoms include very wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. (For more information on this disorder, choose Wolf-Hirschorn as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1742", "name_zh": "5号染色体短臂三体", "Name": "Chromosome 5, Trisomy 5p", "disease_name": "Chromosome 5, Trisomy 5p", "synonyms": "chromosome 5, trisomy 5p, complete (5p11-ter), included", "disease-overview": "Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from the same or another chromosome.", "symptoms": "The symptoms and physical findings associated with trisomy 5p are variable and depend on the location and size of the duplicated segment.  The information reported here is from case reports with duplications, markers, rings or translocations involving the short arm of chromosome 5 with the short arm of an acrocentric chromosome (13,14,15,21,or 22).  Other findings may be present if there are monosomies (deletions) due to complex rearrangements or translocations involving other chromosomes and the short arm of chromosome 5p.", "causes": "In individuals with trisomy 5p, all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 5 includes bands 5p10 (at the centromere or constriction of the chromosome) to 5p15, which is the end of the short arm or terminal band of 5p (also known as 5pter).", "affected": "In observed cases, trisomy 5p has appeared to affect females slightly more often than males and affects all ethnic groups. More than 40 cases have been described since the original description by Lejeune in 1964.", "related-disorders": "While the features for trisomy 5p appear consistent, the diagnosis cannot be made on clinical features alone. Many of the features seen in trisomy 5p can be seen in other genetic conditions or chromosomal abnormalities. (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "A blood chromosome (cytogenetic) study or a chromosomal microarray analysis is required to make the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1448", "name_zh": "环状6号染色体综合征", "Name": "Chromosome 6 Ring", "disease_name": "Chromosome 6 Ring", "synonyms": "r6", "disease-overview": "Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring.  Associated symptoms and findings may vary greatly, depending upon the amount and location of lost chromosomal material and other factors. For example, there have been some reported cases in which children with Chromosome 6 Ring have few physical abnormalities and normal intelligence. However, many with the chromosomal abnormality are affected by growth retardation; varying degrees of mental retardation; mild to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); and/or various abnormalities of the skull and facial (craniofacial) region. Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw (micrognathia). Eye (ocular) defects are also relatively common, such as drooping of the upper eyelids (ptosis), unusually small eyes (microphthalmia), abnormal deviation of one eye in relation to the other (strabismus), and/or other findings. Chromosome 6 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically).", "symptoms": "As noted above, associated symptoms and physical features may vary greatly in range and severity.  Some cases have been reported in which children with Chromosome 6 Ring have normal intelligence and minimal physical abnormalities.  However, others with the chromosomal abnormality may be affected by multiple characteristic features of the disorder.  Such features frequently include growth retardation before and after birth (prenatal and postnatal growth retardation) and associated short stature; poor muscle tone (hypotonia), psychomotor delays, and mild to profound mental retardation; craniofacial malformations; and/or ocular defects.  In some cases, additional physical abnormalities may also be present.", "causes": "Chromosome 6 Ring results from deletion (monosomy) of chromosomal material from the long arm (q) and short arm (p) of chromosome 6 and a joining of the ends to form a ring.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere).  Chromosomes are further subdivided into bands that are numbered.", "affected": "Since Chromosome 6 Ring was originally described, approximately 23 cases have been reported in the medical literature.  In observed cases, males appear to be affected slightly more frequently than females.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 6 Ring.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some cases, Chromosome 6 Ring may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta.  Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Chromosome 6 Ring.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:96098", "name_zh": "6号染色体长臂远端三体", "Name": "Chromosome 6, Partial Trisomy 6q", "disease_name": "Chromosome 6, Partial Trisomy 6q", "synonyms": "6q+ Syndrome, Partial", "disease-overview": "Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder in which a portion of the 6th chromosome (6q) is present three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary in range and severity from case to case. However, many affected infants and children have slow physical development (growth retardation); mental retardation; malformations of the skull and facial (craniofacial) region; an unusually short, webbed neck; abnormal bending (flexion) or extension of certain joints in fixed postures (joint contractures); and/or other physical abnormalities. In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents.", "symptoms": "As noted above, the symptoms and physical findings associated with Chromosome 6, Trisomy 6q may be variable.  However, in many cases, the disorder is characterized by growth delays before and after birth, severe to profound mental retardation, a delay in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation), distinctive malformations of the skull and facial (craniofacial) region, musculoskeletal abnormalities, and/or additional physical features.", "causes": "In individuals with Chromosome 6, Partial Trisomy 6q, all or a portion of the end (distal) region of the long arm (q) of chromosome 6 is present three times (trisomy) rather than twice in cells of the body.  Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into regions and bands that are numbered.  For example, the distal region of the long arm of chromosome 6, which is referred to as 6q2, includes bands 6q21 to 6q27.", "affected": "Chromosome 6, Partial Trisomy 6q is an extremely rare chromosomal disorder that appears to affect males and females equally.  Approximately 30 cases have been reported in the medical literature.", "related-disorders": "Additional chromosomal disorders may have features similar to those potentially associated with Chromosome 6, Partial Trisomy 6q.  Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, Chromosome 6, Partial Trisomy 6q may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal the presence o. Partial Trisomy 6q.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:261911", "name_zh": "7号染色体短臂部分缺失", "Name": "Chromosome 7, Partial Monosomy 7p", "disease_name": "Chromosome 7, Partial Monosomy 7p", "synonyms": "Chromosome 7, 7p Deletion Syndrome, Partial", "disease-overview": "Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the short arm (p) of chromosome 7 (7p). Associated symptoms and findings may be variable and may depend on the specific size and location of the deleted segment of 7p. However, in many cases, there is early closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), resulting in an abnormally shaped head. For example, depending on the specific sutures involved, the forehead may appear unusually triangular shaped (trigonocephaly) or the head may seem abnormally long and narrow with the top pointed or conical (turricephaly). Affected infants and children may also have additional malformations of the skull and facial (craniofacial) region. Such abnormalities may include an unusually small head (microcephaly), closely or widely set eyes (ocular hypotelorism or hypertelorism), downslanting eyelid folds (palpebral fissures), and/or other findings.", "symptoms": "As noted above, the symptoms and physical findings associated with Chromosome 7, Partial Monosomy 7p may vary in range and severity from case to case.  However, many affected individuals have growth delays before and after birth (prenatal and postnatal growth retardation).  The syndrome may also be associated with varying degrees of psychomotor retardation and mental retardation; however, as noted earlier, some affected individuals may have normal intelligence.", "causes": "In individuals with Chromosome 7, Partial Monosomy 7p, there is deletion (monosomy) of a portion of the short arm (p) of chromosome 7. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere).  Chromosomes are further subdivided into bands that are numbered outward from the centromere.  For example, the short arm of chromosome 7 (7p) includes bands 7p11-p15 and bands 7p21-p22; the end or terminal of 7p is known as 7pter.", "affected": "Chromosome 7, Partial Monosomy 7p is a rare chromosomal disorder that appears to affect males and females in relatively equal numbers.  More than 30 cases have been reported in the medical literature.", "related-disorders": "Additional chromosomal disorders may be characterized by symptoms and findings similar to those associated with Chromosome 7, Partial Monosomy 7p.  Chromosomal testing is necessary to confirm the specific chromosomal abnormality present.  (For further information on such disorders, choose the name of the specific chromosomal disorder in question or use chromosome as your search term in the Rare Disease Database.)", "diagnosis": "In some cases, the diagnosis of Chromosome 7, Partial Monosomy 7p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Partial Monosomy 7p.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:261920", "name_zh": "8号染色体短臂部分缺失", "Name": "Chromosome 8, Monosomy 8p", "disease_name": "Chromosome 8, Monosomy 8p", "synonyms": "8p- Syndrome, Partial", "disease-overview": "Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons.", "symptoms": "As noted above, associated features may be extremely variable.  However, in many cases, there are growth delays during fetal development (intrauterine growth retardation) as well as after birth (postnatal growth retardation).", "causes": "In cases of Chromosome 8, Monosomy 8p, there is deletion (monosomy) of an end (distal) portion of the short arm (p) of chromosome  8.  Distal indicates away or farthest from a particular point of reference, meaning the chromosome’s centromere (described below).", "affected": "Chromosome 8, Monosomy 8p appears to affect males and  females in relatively equal numbers.  Since the disorder was originally described in 1973, over 20 cases have  been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 8,  Monosomy 8p.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some instances, the diagnosis of Chromosome 8, Monosomy 8p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing certain characteristic findings that suggest a chromosomal disorder or other abnormalities. With amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal analysis performed on such fluid or tissue samples may reveal the presence of Monosomy 8p2.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:96173", "name_zh": "9号环状染色体综合征", "Name": "Chromosome 9 Ring", "disease_name": "Chromosome 9 Ring", "synonyms": "R9", "disease-overview": "Chromosome 9 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 9th chromosome and joining of the ends to form a ring. Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors. Some affected individuals may have variable malformations of the skull and facial (craniofacial) region. However, in others with the chromosomal abnormality, such features may not be apparent. Chromosome 9 Ring may also be characterized by additional physical features in some cases, including growth retardation, heart defects, genital abnormalities, and/or other findings. In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range. Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early in the development of the embryo that occur for unknown reasons (sporadically).", "symptoms": "As noted above, Chromosome 9 Ring may be characterized by various craniofacial malformations; however, in some cases, such features may not be apparent.  Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly) and/or premature fusion of the fibrous joint (suture) between bones forming the forehead (metopic suture), resulting in an unusually narrow, pointed, triangular or keel-shaped forehead (trigonocephaly) and closely spaced eyes (ocular hypotelorism).  Some affected individuals may also have abnormally slanting eyelid folds (palpebral fissures), slight protrusion of the eyes (exophthalmos), an exaggerated arch to the eyebrows, a small jaw (micrognathia) and small chin, and/or a short neck.", "causes": "Chromosome 9 Ring is caused by deletion of chromosomal material from the end (distal) regions of the short arm (p) and long arm (q) of chromosome 9 and joining of the ends to form a ring.  Chromosomes are found in the nucleus of all body cells.  They carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.  Each chromosome has a short arm designated as p, a long arm identified by the letter q and a narrowed region at which the two arms are joined (centromere).  Chromosomes are further subdivided into bands that are numbered outward from the centromere.", "affected": "Chromosome 9 Ring is a rare chromosomal abnormality that is thought to affect males and females in relatively equal numbers.  Since the disorder was originally described, more than 12 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 9 Ring. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 9, Partial Monosomy 9p is a chromosomal disorder characterized by deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9 (i.e., with the breakpoint usually located within band 9p22).  Characteristic features include variable degrees of intellectual disability; craniofacial, limb, heart (cardiac), and/or genital abnormalities; and/or other physical malformations.  Common craniofacial defects include a triangular- or keel-shaped forehead (trigonocephaly); a short nose, flattened nasal bridge, and upturned nostrils (anteverted nares); prominent eyes; upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); highly arched eyebrows; a small jaw (micrognathia); a short, broad neck; and/or other features.  In most cases, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early during embryonic development.  (For further information, choose Monosomy 9p as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1642", "name_zh": "9号染色体短臂远端单倍体", "Name": "Chromosome 9, Partial Monosomy 9p", "disease_name": "Chromosome 9, Partial Monosomy 9p", "synonyms": "9p Partial Monosomy", "disease-overview": "Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include intellectual disability; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).", "symptoms": "Most infants with Chromosome 9, Partial Monosomy 9p have a normal birth weight and length.  However, the disorder is typically characterized by variable delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor delay) and moderate or mild intellectual disability.  Reports indicate that affected individuals tend to have an affectionate, friendly, and sociable personality.", "causes": "In individuals with Chromosome 9, Partial Monosomy 9p, there is deletion (monosomy) of part of the end (distal) region of the short arm (p) of chromosome 9.  (Distal indicates away or farthest from a particular point of reference, meaning the chromosome’s centromere [described below].)  Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere).  Chromosomes are further subdivided into bands that are numbered outward from the centromere.  For example, 9p22 refers to band 22 of the short arm of chromosome 9.", "affected": "In observed cases, Chromosome 9, Partial Monosomy 9p has appeared to affect females more frequently than males.  Since the disorder was originally described, more than 100 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of Chromosome 9, Partial Monosomy 9p. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chromosome 9 Ring is a rare chromosomal disorder in which there is loss (deletion) of genetic material from the end (distal) regions of the short arm and long arm of the 9th chromosome and joining of the ends to form a ring.  Associated symptoms and findings may vary, depending upon the amount and location of lost chromosomal material and other factors.  Some affected individuals may have variable craniofacial malformations; however, in others with the chromosomal abnormality, such features may not be apparent.  Craniofacial defects associated with Chromosome 9 Ring may include an abnormally small head (microcephaly); a triangular- or keel-shaped forehead (trigonocephaly); abnormally slanting eyelid folds (palpebral fissures); slight protrusion of the eyes (exophthalmos); a small jaw (micrognathia); and/or a short neck.  In some cases, additional physical features may include growth delay after birth, congenital heart defects, genital abnormalities, and/or other findings.  In addition, many affected individuals have moderate to severe intellectual disability; however, in some instances, intelligence may be in the low normal range.  Chromosome 9 Ring usually appears to result from spontaneous (de novo) errors very early during embryonic development.  (For further information on this disorder, choose Chromosome 9 Ring as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2902", "name_zh": "特发性慢性嗜酸细胞性肺炎", "Name": "Idiopathic chronic eosinophilic pneumonia", "disease_name": "Chronic Eosinophilic Pneumonia", "synonyms": "Carrington's disease", "disease-overview": "", "symptoms": "Symptoms of CEP are general and nonspecific. The disorder is chronic and slowly progressive with symptoms usually developing insidiously over weeks or months. Breathing (respiratory) difficulties are always present in some form and can include progressive shortness of breath (dyspnea) and a nonproductive cough. Dyspnea can range from mild to severe. Wheezing occurs in approximately 50% of individuals. Some individuals may cough up a mixture of saliva and mucus (sputum).", "causes": "CEP is caused by the abnormal accumulation of eosinophils in lung tissue and the bloodstream. Normally, eosinophils only account for approximately 5% of circulating white blood cells in healthy individuals. Researchers believe that CEP may develop due to an unidentified, nonspecific triggering agent that causes the body to produce eosinophils. The exact reason for the overproduction and accumulation of eosinophils is unknown.", "affected": "CEP is a rare disorder, but the exact prevalence is unknown. The disorder can occur in individuals of any age, but is extremely rare in childhood. The peak incidence is during the fifth decade. CEP occurs twice as often in women than men.", "related-disorders": "Symptoms of the following disorders can be similar to those of CEP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CEP is based upon identification of characteristic symptoms (e.g., eosinophilic pneumonia), a detailed patient history, a thorough clinical evaluation, the absence of other known causes of eosinophilic lung disease, and a variety of specialized tests. A physical examination may reveal low levels of oxygen in the blood (hypoxemia), a rapid heart rate (tachycardia), wheezes and a rattling sound in the lungs (rales).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:379", "name_zh": "慢性肉芽肿病", "Name": "Chronic granulomatous disease", "disease_name": "Chronic Granulomatous Disease", "synonyms": "CGD", "disease-overview": "Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood cells (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist infections caused by certain types of bacterial and fungal species and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver and bones may occur. In addition, patients can develop swollen areas of inflamed tissues known as granulomas that can be widely distributed, as well as other inflammatory conditions, including those involving the gastrointestinal tract.  Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood. Chronic granulomatous disease is a genetic disorder caused by changes (variants or mutations) in genes responsible for producing an important enzyme in white blood cells. Certain white blood cells use this enzyme to produce hydrogen peroxide that these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation. These oxidants also regulate white blood cell pathways involved in the immune response and inflammation even in the absence of infection. Thus, patients with CGD have problems with both infections and increased inflammation.", "symptoms": "Chronic granulomatous disease is characterized by a susceptibility to repeated bacterial and fungal infections. CGD can also be associated with the development of granulomatous lesions of the skin, lungs, bones and lymph nodes formed by collections of inflammatory white blood cells. Excess gamma globulin in the blood (hypergammaglobulinemia), low levels of circulating red blood cells (anemia), an increase in white blood cells (leukocytosis) can occur as a result of repeated infections or chronic inflammation. Evidence of chronic infections may be seen in the liver, gastrointestinal tract, brain and eyes.", "causes": "Chronic granulomatous disease is a genetic disease. Changes (variants or mutations) in any one of five different genes can cause a defect in an enzyme called phagocyte NADPH oxidase. Certain white blood cells use this enzyme to produce hydrogen peroxide, which these cells need to kill certain bacteria and fungi and to properly regulate white blood cell responses to inflammation.", "affected": "Chronic granulomatous disease affects males more often than females. In North American and European studies, approximately, two-thirds of individuals have the X-linked recessive form of the disorder. Symptoms from CGD usually first occur during infancy or childhood, but sometimes may be delayed until the early teens. In a few cases, the first symptoms have been known to occur in adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of chronic granulomatous disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Granulomatosis with polyangiitis is an uncommon collagen vascular disorder (also referred to as connective tissue disorder) affecting the blood vessels. This is a type of autoimmune disorder that begins as a localized inflammation of the upper and lower respiratory tract mucous membranes, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidney (glomerulonephritis). Initial symptoms usually appear as a severe cold progressing to sinusitis, ulcerations of the mucous membranes in the nose with secondary bacterial infection, middle ear infection (otitis media), cough, expectoration of blood (hemoptysis) and pleuritis. The nasal mucous membrane appears red with a raised granular appearance. There may also be fever, loss of appetite and generalized discomfort. (For more information on this disorder, choose granulomatosis with polyangiitis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2932", "name_zh": "慢性炎症性脱髓鞘性多发性神经病", "Name": "Chronic inflammatory demyelinating polyneuropathy", "disease_name": "Chronic Inflammatory Demyelinating Polyneuropathy", "synonyms": "CIDP", "disease-overview": "", "symptoms": "The chief symptoms of CIDP are slowly progressive (over at least 2 months) symmetric weakness of both muscles around the hip and shoulder as well as of the hands and feet (both proximal and distal muscles). This pattern of weakness, if caused by nerve damage, is highly suggestive of CIDP. Nerve signals become altered causing impairment in motor function and/or abnormal, or loss of, sensation. There are usually some alterations of sensation causing incoordination, numbness, tingling, or prickling sensations. Some patients only have sensory symptoms and signs but have the typical abnormalities of nerve conduction and respond to treatment as in CIDP in which weakness predominates. This is considered a sensory variant of CIDP.", "causes": "The exact cause of CIDP is unknown but there are strong indications that CIDP is an autoimmune disorder. Autoimmune disorders occur when the body’s natural defenses (antibodies and lymphocytes) against invading organisms suddenly begin to attack perfectly healthy tissue. The cause of autoimmune disorders is unknown. Recent studies have detected antibodies directed against constituents of peripheral nerve (neurofascin 155 and contactin 1) that cause rare variants of CIDP. These findings provide encouragement that the cause of other forms of CIDP will be recognized.", "affected": "CIDP is a rare disorder that can affect any age group and the onset of the disorder may begin during any decade of life. CIDP affects males twice as often as females and the average age of onset is 50. The prevalence of CIDP is estimated to be around 5-7 cases per 100,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of CIDP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multifocal motor neuropathy (MMN) is a rare disorder characterized by asymmetric or multifocal weakness of the arms and legs without sensory signs or symptoms. MMN usually affects one side of the body more than the other (asymmetric) and affects the arms more often than the legs. Degeneration (atrophy) of the muscles of the arms and legs is also often present. The disorder is usually slowly progressive over several years. The exact cause of MMN is unknown. (For more information on this disorder choose multifocal motor neuropathy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2978", "name_zh": "慢性小肠假性梗阻", "Name": "Chronic Intestinal Pseudo-Obstruction", "disease_name": "Chronic Intestinal Pseudo-Obstruction", "synonyms": "chronic idiopathic intestinal pseudo-obstruction", "disease-overview": "", "symptoms": "The specific symptoms and severity of CIP can vary greatly from one person to another, depending, in part, on the exact location and extent of the disease within the gastrointestinal tract. Any area of the GI tract can potentially be affected, but the small bowel is most commonly affected. By definition, CIP is chronic in nature and individuals usually have continuous symptoms of bowel obstruction. However, affected individuals may also experience recurrent episodes or acute attacks during which time symptoms worsen and become more pronounced. In between such episodes, affected individuals may experience vague, nonspecific symptoms relating to the GI tract and bowel obstruction. In extremely rare cases, some affected individuals do not have symptoms in between such attacks.", "causes": "CIP is generally broken down into primary CIP, in which there is an intrinsic defect affecting the muscles or nerves that control the passage of food and other material through the GI tract, and secondary CIP, in which the disorder results from another, underlying non-gastrointestinal disorder or condition. In many cases the cause of CIP is unknown; these cases may be categorized as idiopathic and are sometimes referred to as chronic idiopathic intestinal pseudo-obstruction (CIIP).", "affected": "CIP affects males and females in equal numbers and can affect individuals of any age. The prevalence of CIP in the general population is unknown. According to some sources approximately 100 new cases of CIP are reported in children in the United States each year. However, CIP often goes unrecognized or misdiagnosed making it extremely difficult to determine the true frequency of CIP in the general population. Children are predominantly affected by primary, non-familial, sporadic CIP. Adults are generally affected by secondary CIP, most often due to systemic diseases such as scleroderma, diabetes, or paraneoplastic syndromes.", "related-disorders": "Symptoms of the following disorders can be similar to those of CIP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CIP is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests to rule out other conditions or identify underlying causes. Symptoms of CIP should be present for at least six months before a diagnosis of CIP can be made.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:67038", "name_zh": "B细胞慢性淋巴细胞白血病", "Name": "B-cell chronic lymphocytic leukemia", "disease_name": "Chronic Lymphocytic Leukemia", "synonyms": "chronic lymphoid leukemia", "disease-overview": "Chronic lymphocytic leukemia (CLL) is a malignant blood disorder in which there are an increased number of white blood cells in the lymphoid tissue. In CLL, the abnormal lymphocytes, also called leukemic cells, are produced instead of healthy white blood cells, and then accumulate over time. As the number of unhealthy blood cells grows, there is less room for healthy cells. The combination of fewer healthy cells and the fact that the CLL lymphocytes are poor at fighting infections can lead to frequent infection, anemia, and easy bleeding. This disease progresses slowly, and the uncontrolled buildup and enlargement of lymphoid tissue can occur in various sites of the body such as the lymph nodes, spleen, bone marrow, and lungs. CLL is the most common type of leukemia in adults and very rarely occurs in children. In the majority of individuals, chronic lymphocytic leukemia is the result of a rapid production of B lymphocyte cells (a type of white blood cell that is responsible for the production of antibodies to help fight infection). What was previously called CLL derived from T lymphocytes has been renamed as another disorder, T cell prolymphocytic leukemia. The overgrowth of cells in this T-cell disease tends to be much faster. The ability to distinguish between cells that have unmutated IgVH (Ig-unmutated CLL) and mutated IgVH (Ig-mutated CLL) has become very important in predicting the course of the disease (prognosis). Patients who have Ig-unmutated CLL have a much shorter time to treatment and historically a shorter average survival period compared to Ig-mutated CLL patients, whose average survival period exceeded 25 years even before the advent of modern therapy. These survival times however are based on much older data and are certainly longer now, with improved therapies. The other major determinant of prognosis is the chromosome makeup of the CLL, with particular concern about two higher risk chromosome abnormalities, loss of the short arm of chromosome 17 or the long arm of chromosome 11Determining the subset of CLL based on IGVH status is important because it is very predictive of prognosis. Because CLL usually progresses so slowly, many patients do not need immediate treatment and some do not even require it in their lifetime. Treatment is still based primarily on symptoms or worsening blood counts, not on these prognostic factors.", "symptoms": "Approximately 50-75% of patients with chronic lymphocytic leukemia have no symptoms when first diagnosed. The disease is discovered during a routine exam or blood test. Symptoms can be similar between the two subdivisions of CLL, Ig-mutated and Ig-unmutated, although when Ig-unmutated CLL progresses, typically sooner, more symptoms may ensue.", "causes": "The exact cause of chronic lymphocytic leukemia is not known. Multiple genetic mutations occur in the DNA of blood-producing cells. These mutations cause the blood cells to produce abnormal lymphocytes, which are not effective at fighting infection.", "affected": "Chronic lymphocytic leukemia is the most common type of leukemia found in multiple family members. It is twice as common in males as in females and the average age of onset in patients is 72. It is also more common in people that are white, or of Russian and Eastern European Jewish heritage. The rate of incidence of the disorder increases with age. CLL almost never affects children and is rare under the age of thirty. In the United States, it is thought that three out of every 100,000 people will develop CLL, but this may be an underestimate.", "related-disorders": "Symptoms of the following disorders can be similar to those of chronic lymphocytic leukemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CLL is most commonly discovered when an abnormally high white blood cell count is noticed in routine blood work. A diagnosis can be made with one of the following tests:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:528", "name_zh": "Berardinelli-Seip先天性脂肪营养不良", "Name": "Congenital generalized lipodystrophy", "disease_name": "Chronic Myelogenous Leukemia", "synonyms": "CGL", "disease-overview": "", "symptoms": "Many individuals with CML show nonspecific symptoms at the time of diagnosis. The most common symptoms are fatigue, weakness, itchiness, night sweats, abdominal discomfort, and weight loss. An abnormally enlarged spleen (splenomegaly) is usually discovered upon physical examination. CML is commonly diagnosed when an affected individual is undergoing blood tests for a different reason. Sometimes, no symptoms are present at all.", "causes": "The exact cause of CML is not known. Blood samples of patients with CML show the presence of abnormal cells that reproduce more rapidly than normal cells. Ninety percent of these neoplastic cells show a consistent rearrangement of chromosomes. This rearrangement is the result of a transfer of genetic material from chromosome 22 to chromosome 9 and vice versa. As a result of this transference, chromosome 22 ends up shorter than normal. This shortened chromosome is known as the Philadelphia chromosome, and is present in the blood cells of 90% of people with CML. Formation of the Philadelphia chromosome results in a fused gene, called BCR-ABL. This gene contains instructions that make the disease blood cells produce far too much of a protein called tyrosine kinase. This protein causes the cancer by allowing the diseased blood cells to grow out of control.", "affected": "CML is slightly more prevalent in males than in females. It may occur at any age, but predominantly affects people in their 40s and 50s. There are more than 4,000 new cases of the 30,000 new cases of leukemia, diagnosed each year. There is an increased incidence rate of CML among people who have been exposed to radiation, such as the survivors of the atomic bombs dropped in Nagasaki and Hiroshima.", "related-disorders": "Symptoms of the following disorders can be similar to those of chronic myelogenous leukemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Polycythemia vera is a rare chronic myeloproliferative disorder characterized by overproduction of red blood cells and elements of the bone marrow involved in the formation of red blood cells (hematopoietic elements). In most cases, affected individuals may experience headaches, weakness, dizziness (vertigo), and/or a ringing noise in the ear (tinnitus). In some cases, individuals with polycythemia vera experience itching (pruritis), especially after a hot bath. Affected individuals often have an abnormally enlarged spleen (splenomegaly) and/or liver (hepatomegaly). In some cases, affected individuals may have associated conditions including high blood pressure (hypertension), the formation of blood clots (thrombosis), and/or rupturing of and loss of blood (hemorrhaging) from certain blood vessels. The exact cause of polycythemia vera is not known. (For more information on this disorder, choose polcythemia vera as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:505", "name_zh": "Graham Little-Piccardi-Lassueur综合征", "Name": "Cicatricial Alopecia", "disease_name": "Cicatricial Alopecia", "synonyms": "alopecia cicatrisata", "disease-overview": "Cicatricial alopecias are classified as primary or secondary. This discussion is confined to the primary cicatricial alopecias, in which the hair follicle is the target of a destructive inflammatory process. In secondary cicatricial alopecias, destruction of the hair follicle is incidental to a non-follicle-directed process or external injury, such as severe infections, burns, radiation, or tumors.", "symptoms": "Affected areas of the scalp may have redness, scaling, increased or decreased pigmentation, pustules, or draining sinuses. Other cases may show little signs of inflammation. The inflammation that destroys the follicle is below the skin surface and there is usually no scar seen on the scalp, although the affected scalp is usually left bare and smooth without hair and without the usual pore markings.", "causes": "The cause of the various cicatricial alopecias is not well understood. However, all types of cicatricial alopecias involve inflammation directed at the upper part of the hair follicle where the stem cells and sebaceous gland (oil gland) are located. If the stem cells and sebaceous gland are destroyed, there is no possibility for regeneration of the hair follicle, leading to permanent hair loss. Cicatricial alopecias are not contagious.", "affected": "Cicatricial alopecias affect healthy men and women of all ages, although primary cicatricial alopecia is not usually seen in children. Cicatricial alopecias occur worldwide. Epidemiologic studies have not been performed to determine the incidence of cicatricial alopecias. In general, they are not common.", "related-disorders": "Symptoms of the following disorder can be similar to those of cicatricial alopecia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chronic cutaneous lupus erythematosus (CCLE) is predominantly a cutaneous disease with few systemic complications. Scarring and disfiguring changes in the skin (discoid lesons) are commonly seen in this disease. It occurs more frequently in females than males and more commonly in adults than children.", "therapies": "Primary cicatricial alopecias are classified by the predominant type of inflammatory cells that attack the hair follicles (i.e., lymphocytes, neutrophils, or mixed inflammatory cells), and treatment strategies are different for each subtype and each patient."}
{"OrphaCode": "ORPHA:247525", "name_zh": "瓜氨酸血症I型", "Name": "Citrullinemia type I", "disease_name": "Citrullinemia Type 1", "synonyms": "argininosuccinate synthetase deficiency", "disease-overview": "Citrullinemia type I (CTLN1) is a rare autosomal recessive genetic disorder that includes a neonatal acute (classic) form, a milder late-onset form, a form that begins during or after pregnancy and an asymptomatic form.", "symptoms": "The severity of CTLN1 varies from patient to patient. The classic form, characterized by profound lack of ASS enzyme activity, displays symptoms shortly after birth (neonatal period). A milder form of the disorder, which is characterized by partial lack of the ASS enzyme, affects some infants later during infancy or childhood.", "causes": "CTLN1 is caused by changes (mutations or pathogenic variants) in the ASS1 gene that is responsible for production of the argininosuccinate synthetase (ASS) enzyme. The symptoms of CTLN1 develop due to deficiency of this enzyme, which is needed to detoxify ammonia in the body. Failure to properly remove ammonia via synthesis of urea leads to the abnormal accumulation of ammonia in the blood (hyperammonemia).", "affected": "CTLN1 occurs in approximately 1/57,000 births.", "related-disorders": "Symptoms of the following disorders may be similar to those of citrullinemia type 1. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which waste nitrogen is converted into urea and removed from the body through the urine. Ammonia is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures, intolerance to protein and/or coma. The liver may be abnormally enlarged (hepatomegaly) in some patients. In severe cases, life-threatening complications often result. In addition to citrullinemia, the other urea cycle disorders are: carbamyl phosphate synthetase (CPS) deficiency; argininosuccinic acid lyase deficiency; ornithine transcarbamylase (OTC) deficiency; arginase deficiency and N-acetylglutamate synthetase (NAGS) deficiency. (For more information on these disorders, choose the specific disorder name as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:139498", "name_zh": "欧洲非罕见：血色病1型", "Name": "Classic Hereditary Hemochromatosis", "disease_name": "Classic Hereditary Hemochromatosis", "synonyms": "bronze diabetes", "disease-overview": "Hereditary hemochromatosis (HH) is a general term for several rare genetic disorders that are characterized by the accumulation of iron in various organs of the body such as the liver, heart and pancreas. The abnormally stored iron can damage affected organs, potentially causing a variety of different symptoms. The most common form of hemochromatosis is known by several different names including hemochromatosis type I, HFE-related hemochromatosis, hereditary hemochromatosis and classic hereditary hemochromatosis. Iron accumulation in classic hereditary hemochromatosis occurs slowly over many years. Eventually, iron accumulation causes tissue damage and impaired functioning of affected organs. In many affected individuals, symptoms may not become apparent until some point between 40-60 years of age. Onset is usually earlier for men compared to women. Common symptoms include abdominal pain, weakness, lethargy, and unintended weight loss. Without treatment, classic hereditary hemochromatosis can progress to cause serious, life-threatening complications including failure of affected organs.", "symptoms": "The symptoms of classic hereditary hemochromatosis develop gradually over many years because of the excess accumulation of iron in the body. Symptoms usually become apparent at some point between 40-60 years of age, but may develop early or later. Symptoms rarely develop before 20 years of age. The specific symptoms that occur may vary depending upon the specific organs affected. The severity of the disorder may also vary. Some individuals may have mild, undetected cases, while others have serious complications including organ failure.", "causes": "Classic hereditary hemochromatosis is caused by changes (mutations) of the HFE gene. This mutation is inherited in an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "The exact prevalence of classic hereditary hemochromatosis is unknown. The disorder is thought to be the most common autosomal recessive disorder in Caucasian populations. In individuals of Northern European descent, the prevalence is estimated to be as high as 1 in 227 individuals in the general population. Approximately 10 percent of the Caucasian population is estimated to be a carrier for classic hereditary hemochromatosis (i.e., has one mutation of the HFE gene). Some individuals who have genetic mutations that cause classic hereditary hemochromatosis do not develop symptoms of the disorder, making it difficult to determine the true frequency of classic hereditary hemochromatosis in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of classic hereditary hemochromatosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of classic hereditary hemochromatosis is made based upon the identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79263", "name_zh": "婴儿神经元蜡样质脂褐质沉积症", "Name": "Classic Infantile CLN1 Disease", "disease_name": "Classic Infantile CLN1 Disease", "synonyms": "CLN1", "disease-overview": "", "symptoms": "The signs and symptoms of classic infantile CLN1 disease usually become apparent between 2 and 24 months of age. Infants will develop normally initially, but then become to regress. Their mental and motor development levels off and then begins to decline. Many infants are never able to speak or walk. However, some children do not become ill until later because they still have residual enzyme activity.", "causes": "Classic infantile CLN1 disease is caused by an alteration in the PPT1 gene (designated CLN1). Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Classic infantile CLN1 disease affects males and females in equal numbers. In the United States, classic infantile CLN1 disease along with other forms of neuronal ceroid lipofuscinosis occurs in approximately three in 100,000 live births. Classic infantile CLN1 disease occurs with greater frequency in Finland where its prevalence is estimated to be 1 in 190,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of classic infantile CLN1 disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of classic infantile CLN1 disease may be based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic physical findings, and a variety of specialized tests including enzyme assays and molecular genetic testing.", "therapies": "The treatment of classic infantile CLN1 disease is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat eye disorders (ophthalmologists), specialists who diagnose and treat disorders of the central nervous system (neurologists), speech pathologists, a medical geneticist, a psychiatrist and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Psychosocial support for the entire family is essential as well. Genetic counseling is of benefit for affected individuals and their families."}
{"OrphaCode": "ORPHA:1452", "name_zh": "锁骨颅骨发育不良", "Name": "Cleidocranial dysplasia", "disease_name": "Cleidocranial Dysplasia", "synonyms": "cleidocranial dysostosis", "disease-overview": "Cleidocranial dysplasia is a rare genetic disorder characterized by abnormal bone formation commonly affecting the skull, teeth and long bones. As a result, short stature, distinctive facial features and narrow, sloping shoulders caused by abnormally developed or absent collarbones (clavicles) may be present in affected individuals. Major features may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and abnormalities in development of the chest (thoracic region). If not diagnosed at birth, clinical presentation of remarkable features may be most notable in early childhood or adolescence. Additionally, a high arched palate, failure of the lower jaw joints to unite, delayed eruption of teeth and fingers that are irregular in length may also be present. Cleidocranial dysplasia is inherited as an autosomal dominant genetic condition. Approximately 1,000 cases of this disorder have been reported in the medical literature.", "symptoms": "Because affected individuals can present with an array of features related to cleidocranial dysplasia, it is not always diagnosed at birth. The most prominent feature of cleidocranial dysplasia is the absence of collarbones or narrow, drooping shoulders caused by complete or partial absence of the collarbones. There may be abnormalities of the muscles in the area of the collarbones associated with an irregularly wide range of shoulder movement in affected individuals with collarbone abnormalities. Another prominent feature is atypical skull formation or skull abnormalities, which may include a premature closure of the two soft spots on the head (fontanels) and the fibrous joints where bones of the skull meet (sutures) causing abnormal development of the skull. Distinct facial features typically include a prominent forehead, unusually wide face, prominent chin, small upper jaw (maxillary hypoplasia) and bulging of the skull cap. Most individuals with cleidocranial dysplasia have some but not necessarily all features listed above and are diagnosed between birth and adolescence as the child develops and abnormalities may become more noticeable over time (irregular growth of long bones or pelvis, atypical facial feature development, abnormal tooth or jaw formation, etc.).", "causes": "Cleidocranial dysplasia is caused by changes (mutations or pathogenic variants) in the RUNX2 gene (originally called the CBFA1 gene). This gene codes for a protein that affects bone development and the proliferation of healthy osteoblasts. Osteoblasts are the specific cell type that make up bones and contribute to proper bone formation in the body. RUNX2 is a transcription factor or regulator of osteoblast generation in the body termed osteogenesis. About 20-30% of individuals with cleidocranial dysplasia do not have a pathogenic variant in the RUNX2 gene. This suggests that there are other genetic causes of this condition.", "affected": "Cleidocranial dysplasia is a very rare disorder that is apparent at birth and affects males and females in equal numbers. Approximately 1,000 cases of this disorder have been reported in the medical literature. The birth prevalence is approximately 1 in 1 million.", "related-disorders": "Symptoms of the following disorders can be similar to those of cleidocranial dysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mandibuloacral dysplasia is a rare disorder that may be characterized by a limitation in joint movement, slowed growth of the jaw, atrophic skin, underdeveloped fingers, a wide space between the bones of the skull, limited joint movement, absent or underdeveloped collarbone and/or a hip defect in which the thigh bone angles out to the side of the body (coxa valga). Mandibuloacral dysplasia is thought to affect males and females equally. Although these features may overlap with those present in individuals with cleidocranial dysplasia, mandibuloacral dysplasia is inherited in an autosomal recessive manner.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:140944", "name_zh": "先天性脂肪瘤样增生，血管畸形和表皮痣综合征", "Name": "CLOVES syndrome", "disease_name": "CLOVES Syndrome", "synonyms": "CLOVE syndrome", "disease-overview": "", "symptoms": "CLOVES syndrome belongs to the spectrum of overgrowth syndromes with complex vascular anomalies caused by mosaic mutations in the PIK3CA gene. CLOVES syndrome may affect the soft tissue, blood vessels, bone and internal organs. The manifestations are very variable ranging from mild to severe anomalies. These abnormalities are typically present at birth.", "causes": "CLOVES syndrome is a nonhereditary disorder caused by a somatic (body cell) mutation in a gene known as PIK3CA. Mutations in this growth regulatory gene result in two sets of cells within the body (mosaic status): those with the mutation and those without the mutation. The mutated cells give rise to the abnormal tissue.", "affected": "CLOVES syndrome is rare and evident at birth. It affects males and females equally regardless of their race or ethnicity. Many of the patients with CLOVES syndrome are misdiagnosed as having other syndromes such as Klippel-Trenaunay syndrome or Proteus syndrome.", "related-disorders": "PIK3CA-related overgrowth syndromes (PROS) refers to a group of disorders caused by PIK3CA gene mutations such as CLOVES and Klippel-Trenaunay syndrome.", "diagnosis": "The diagnosis is evident at birth based on physical signs and symptoms. Confirmation of diagnosis can be done with molecular genetic testing for the PIK3CA gene mutation. Imaging studies include plain x-rays (radiography), magnetic resonance imaging (MRI) of the chest, abdomen, pelvis, spine and limbs and ultrasound for vascular anomalies and kidneys. Prenatal diagnosis with imaging tools is feasible.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:190", "name_zh": "Coats病", "Name": "Coats disease", "disease_name": "Coats Disease", "synonyms": "Coats syndrome", "disease-overview": "Coats disease was first described in 1908 and is a rare disorder characterized by abnormal development of the blood vessels in the retina. The retina is a nerve-rich tissue lining the back of the eye that transmits light images to the brain, which allows a person to see. Therefore, affected individuals may experience loss of vision due to changes in the retina and, in severe cases, retinal detachment. In almost all people with Coats disease, only one eye is affected. Rarely, both eyes may be exhibit symptoms, however, one eye is often affected more than the other. The specific cause of Coats disease is not known.", "symptoms": "Coats disease affects males more often than females in a ratio of 3:1. The disorder may occur at any age, but the majority of patients are diagnosed in the first two decades of life. Individuals affected with Coats disease may display few or no symptoms while others may have severe involvement. The most common features at presentation of Coats disease include loss of vision, misalignment of the eyes (strabismus), and/or the development of a white reflex rather than the normal red or orange color in the pupil when light is flashed into the pupil so that the pupil appears white (leukocoria).", "causes": "The specific cause of Coats disease is not known. One theory is that a mutation of the Norrie disease protein (NDP) gene leads to Coats disease. This gene is an attractive candidate because it has been shown to play a vital role in retinal blood vessel development. One study showed some promise for involvement of the NDP gene in Coats disease, however further studies have not been able to verify this hypothesis. In general, Coats disease is considered a non-genetic, non-heritable condition.", "affected": "It is estimated that about 69% of those affected are male. The average age at diagnosis is 8-16 years, although the disease has been diagnosed in patients as young as 4 months. About two-thirds of juvenile cases present before age 10. Approximately one-third of patients are 30 years or older before symptoms begin.", "related-disorders": "Signs of the following disorders can be similar to those of Coats disease.", "diagnosis": "A diagnosis of Coats disease is made based upon a thorough clinical ophthalmic evaluation, a detailed patient history, and specialized tests, including retinal fluorescein angiography, diagnostic echography, and in some cases computed tomography imaging of the orbits.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:191", "name_zh": "科凯恩综合征", "Name": "Cockayne Syndrome", "disease_name": "Cockayne Syndrome", "synonyms": "CS", "disease-overview": "Cockayne Syndrome (CS) is a rare genetic disorder characterized by short stature, an abnormally small head (microcephaly) and neurologic abnormalities that can lead to intellectual disability. Affected children may also have skin that is sensitive to light (photosensitivity); inflammation of peripheral nerves and destruction of the fatty covering (myelin sheath) of nerve fibers; vision abnormalities including cataracts; hearing loss; dental abnormalities and a face with a sunken appearance of the eyes.", "symptoms": "CS type I, the classical form, is characterized by a normal appearing newborn with symptoms that become apparent in the first wo years of life. Vision, hearing and nervous system functioning gets worse over time, resulting in severe disability.", "causes": "Cockayne syndrome is caused by changes (pathogenic variants) in the ERCC6 and ERCC8 genes. Pathogenic variants in ERCC6 account for about 65% of cases and pathogenic variants in ERCC8 cause about 35% of cases. These genes are involved in the normal repair of DNA that occurs after damage from ultraviolet light, which is the body’s natural defense against sunburn. Exposure to the ultraviolet component of sunlight damages DNA and because the cells are no longer able to repair the damaged DNA, it accumulates in the cells.", "affected": "Cockayne syndrome affects males and females in equal numbers and has been diagnosed in children from many different ethnic backgrounds. The incidence of CS has been estimated to be 2.7 per 1,000,000 births in western Europe, but it is probably underdiagnosed.", "related-disorders": "Many different disorders have symptoms similar to those of Cockayne syndrome. Conditions that might be included in a differential diagnosis include Pelizaeus-Merzbacher disease; Cornelia deLange syndrome; Dubowitz syndrome; Hallerman-Streiff syndrome; Rubinstein-Taybi syndrome; Silver-Russell syndrome; Seckel syndrome; Wiedemann-Rautenstrauch syndrome; xeroderma pigmentosum, Bloom syndrome; Hutchinson-Gilford progeria syndrome; Werner syndrome; Rothmund-Thompson syndrome; Warburg micro syndrome; disorders of calcium and phosphate metabolism; and congenital infections (rubella, toxoplasmosis).", "diagnosis": "Cockayne syndrome is diagnosed by molecular genetic (DNA) testing for pathogenic variants in the ERCC6 or ERCC8 genes. If pathogenic variants in these genes are not found, a DNA repair assay on skin cells can be done to look for sensitivity to ultraviolet radiation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:192", "name_zh": "Coffin-Lowry综合征", "Name": "Coffin Lowry Syndrome", "disease_name": "Coffin Lowry Syndrome", "synonyms": "Coffin Syndrome", "disease-overview": "Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by intellectual disability; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene and is inherited in an X-linked dominant pattern. Males are usually more severely affected than females.", "symptoms": "The symptoms of Coffin-Lowry syndrome tend to be more severe in males, although symptoms in affected females can range from none to the same severity seen in males. The characteristic facial features seen in affected males become more easily identifiable in late childhood and adulthood. The face is characterized by a prominent forehead and eyebrows, narrowing of both temples, scarce hair on the scalp, thickened eyebrow ridges, downslanting eyelid slits, wide-set eyes, thickened upper eyelids, a broad nasal bridge with a thick dividing cartilage (septum), thick prominent lips, an open mouth, prominent chin and ears.", "causes": "Coffin-Lowry syndrome is caused by changes (mutations) in the RPS6KA3 gene on the X chromosome. Some individuals with Coffin-Lowry syndrome do not have a detectable mutation in the RPS6KA3 gene.", "affected": "Coffin-Lowry syndrome affects as many males as females. However, symptoms may be more severe in males.", "related-disorders": "Symptoms of the following disorder can be similar to those of Coffin-Lowry syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Borjeson syndrome is a rare genetic disorder primarily characterized by an unusual facial appearance, intellectual disability, obesity, seizures, delayed sexual development, and/or poor muscle tone (hypotonia). The disorder is follows X-linked recessive inheritance and therefore is usually fully expressed in males only. However, females who carry a single copy of the disease gene may manifest certain, usually more variable features of the disorder. (For more information on this disorder, choose Borjeson as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1465", "name_zh": "Coffin-Siris综合征", "Name": "Coffin-Siris syndrome", "disease_name": "Coffin-Siris Syndrome", "synonyms": "CSS", "disease-overview": "Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance. Craniofacial malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes or excess hair growth in unusual places such as the back (hypertrichosis); and sparse scalp hair. In addition, affected infants and children may have short fifth fingers (pinkies) and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes and eye abnormalities. Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental delays, hearing loss, and intellectual disability may also be present. The specific symptoms and severity can vary among affected individuals. Treatment is directed towards the symptoms that are present in an individual with CSS.", "symptoms": "CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. Affected individuals may have an unusually small or large head (micro- or macrocephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge and an abnormally long vertical groove between the nose and the upper lip (philtrum). Additional features may include thick eyebrows, long eyelashes and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to be relatively sparse (scalp hypotrichosis). Reports suggest that sparse scalp hair improves with age.", "causes": "CSS is thus far known to be caused by pathogenic gene variants (mutations) in one of the following genes: ARID1A, ARID1B, ARID2, SMARCA4, SMARCB1, SMARCE1, SMARCC2, DPF2, SOX4 and SOX11. Genes provide instructions for creating proteins that play a critical role in many functions of the body. The ARID and SMARC genes linked to CSS provide the instructions to make several different protein complexes that are known as BRG-1 associated factor (BAF) complex in humans. SOX11 is involved with transcriptional regulation of the BAF complex. These protein complexes regulate gene activity by altering how tightly regions of DNA are packaged, which can affect gene expression. Subsequently, the BAF complex is involved in a variety of processes including cell growth, division, and differentiation and the replication and repairing of DNA. It is still unclear how these mutations affect the BAF complex, but researchers believe they alter DNA packaging, which can disrupt gene activity and cellular processes and lead to the symptoms of CSS.", "affected": "CSS occurs worldwide with no ethnic predisposition. Since the disorder was originally described in 1970 (G.S. Coffin), there are likely several thousand individuals with known CSS, however there are more individuals with CSS who have not yet undergone molecular testing or who have not come to medical attention.", "related-disorders": "Symptoms of the following disorders may be similar to those of Coffin-Siris syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mosaic trisomy 9 is a rare chromosomal disorder in which there are three copies (trisomy) of chromosome number 9 rather than twice in some cells of the body. The term mosaic indicates that some cells contain the extra chromosome 9, while others have the normal chromosomal pair. Associated symptoms and findings may vary greatly in range and severity, depending on the percentage of cells with the extra chromosome. However, common features include growth deficiency before birth (intrauterine growth retardation); intellectual disability; structural malformations of the heart that are present at birth (congenital heart defects) and/or distinctive abnormalities of the skull and facial (craniofacial) region, such as a sloping forehead, a bulbous nose, short eyelid folds (palpebral fissures), deeply set eyes and/or low-set, malformed ears. The syndrome may also be characterized by musculoskeletal, genital, kidney (renal) and/or additional physical abnormalities. Mosaic trisomy 9 may be caused by errors during the division of a parent’s reproductive cells or during the division of body tissue cells early in the development of the embryo. (For further information, choose mosaic trisomy 9 as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98980", "name_zh": "Cogan-Reese综合征", "Name": "Cogan Reese Syndrome", "disease_name": "Cogan Reese Syndrome", "synonyms": "ICE Syndrome, Cogan-Reese Type", "disease-overview": "Cogan-Reese syndrome is an extremely rare eye disorder characterized by a matted or smudged appearance to the surface of the iris; the development of small colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to the cornea (peripheral anterior synechiae); and/or increased pressure in the eye (glaucoma). Secondary glaucoma may lead to vision loss. This disorder most frequently appears in young and middle-aged females, usually affecting only one eye (unilateral) and developing slowly over time.", "symptoms": "Major characteristics of Cogan-Reese syndrome include a matted or smudged appearance to the surface of the iris (nevus), yellow or brown lumps or nodules on the iris (nodular iris nevi), the attachment of portions of the iris to the cornea (peripheral anterior synechiae), and increased pressure in the eye (glaucoma). The development of Cogan-Reese syndrome is gradual, and may be preceded by symptoms of essential iris atrophy and/or Chandler’s syndrome. The matted appearance of the iris and development of nodules on the iris distinguish Cogan-Reese syndrome from the other iridocorneal endothelial syndromes.", "causes": "The cause of Cogan-Reese syndrome is not known. Some researchers suspect that inflammation or chronic infection may be the cause of the disease. Others suggest that the primary disorder involves the cells that line the cornea (corneal endothelium), with the impact on the iris as a secondary or associated disorder. Some scientists suggest that the three iridocorneal (ICE) syndromes may represent different stages of one disease process.", "affected": "Cogan-Reese syndrome is a very rare disorder that predominantly affects females in the middle adult years, although cases have been reported in children. Most affected individuals are white. The male to female ratio ranges from 1:2 to 1:5. A family history usually shows no other affected family members.", "related-disorders": "Symptoms of the following disorders can be similar to those of Cogan-Reese syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chandler’s syndrome (CS) is a rare eye disorder in which the endothelium, the single layer of cells lining the inner surface of the cornea, proliferates causing corneal edema, distortion of the iris, and unusually high pressure in the eye (glaucoma). CS is one of three syndromes affecting the eyes (progressive iris atrophy and Cogan-Reese syndrome are the other two) that make up the iridocorneal endothelial syndrome (ICE syndrome). The spectrum is an acquired, unilateral disorder, which typically occurs in early to middle adulthood and predominantly affects women. Chandler’s syndrome is the most commonly encountered clinical variant of this spectrum. (For more information on this disorder, choose Chandler as your search term in the Rare Disease Database.)", "therapies": "Secondary Glaucoma and Treatment:"}
{"OrphaCode": "ORPHA:193", "name_zh": "科恩综合征", "Name": "Cohen Syndrome", "disease_name": "Cohen Syndrome", "synonyms": "Pepper Syndrome", "disease-overview": "Cohen syndrome is a variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability. Affected individuals usually have microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex. In many older patients, obesity is present, especially around the torso and is associated with slender arms and legs. A lowered level of certain white blood cells known as neutrophils (neutropenia) is present from birth in some affected individuals. Cohen syndrome is an autosomal recessive genetic disease caused by changes (variants or mutations) in the VPS13B/COH1 gene.", "symptoms": "The signs and symptoms of Cohen syndrome may vary from one individual to another. Although researchers have been able to establish a clear syndrome with characteristic or core features, much about the disorder is not fully understood. Several factors including the small number of identified cases and the lack of large clinical studies, prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Cohen syndrome is caused by changes (variants or mutations) in the COH1 gene. This gene is also known as the VPS13B gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When an alteration of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Cohen syndrome affects males and females in about equal numbers. It appears to occur more frequently in people of Finnish, Amish, Greek/Mediterranean and Irish ancestry. More than 150 cases have been reported in the medical literature and an estimated over 1,000 individuals have been diagnosed with the disorder worldwide. However, instances of Cohen syndrome often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of the disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Cohen syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a meal (satiety). Without intervention, this can lead to overeating and the gradual onset of obesity. Food compulsion requires constant supervision. Individuals with severe obesity may have an increased risk of cardiac insufficiency, sleep apnea, diabetes and other serious conditions that can cause life-threatening complications. All individuals with PWS have some cognitive impairment that ranges from low normal intelligence with learning disabilities to mild to moderate intellectual disability. Behavioral problems are common and can include temper tantrums, obsessive/compulsive behavior and skin picking. Motor milestones and language development are often delayed. PWS occurs due to alterations affecting certain genes in a specific region of chromosome 15. These abnormalities usually result from random (sporadic) errors in development but are sometimes inherited. (For more information on this disorder, choose Prader-Willi as your search term in the Rare Disease Database.)", "therapies": "The treatment of Cohen syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric neurologists, orthopedists, ophthalmologists, psychiatrists, speech pathologists and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Genetic counseling is recommended for affected individuals and their families."}
{"OrphaCode": "ORPHA:659396", "name_zh": "", "Name": "Cohen-Gibson syndrome", "disease_name": "Cohen-Gibson Syndrome", "synonyms": "EED-related overgrowth", "disease-overview": "Cohen-Gibson Syndrome is a neurodevelopmental disorder caused by disease-causing changes (pathogenic variants) in the EED gene. Affected children typically have developmental delays or intellectual disability, tall stature for age, large head size, large hands and feet and facial features that are unusual for their family background.", "symptoms": "Developmental Delay and Intellectual Disability", "causes": "Cohen-Gibson syndrome is caused by likely pathogenic or pathogenic variants (disease-causing changes) in a gene called EED (embryonic ectoderm development). The EED protein cooperates with several other proteins, including EZH2 and SUZ12, to form a protein bundle called PRC2 (polycomb repressive complex 2). The job of the PRC2 complex is to help cells put away genes that they don’t need to use – a process called chromatin compaction. Essentially, when the body’s stem cells need to convert into a specific organ, they need to put away all their stem cell genes, as well as all the genes they would use if they were turning into a different organ. In this way, muscle cells would put away all the not-muscle genes (such as genes specific to fat tissue, the eyes, bone, etc.) and leave the muscle-only genes turned on. Bone cells would put away all the not-bone genes (including the genes that self-renew stem cells) and leave the bone-only genes turned on. The PRC2 complex adds a modification to histone proteins in the nucleus of the cell to help these histone proteins pack themselves (and the DNA that is wrapped around them) together more tightly. If the PRC2 complex is not working at full efficiency, such as when a pathogenic variant is present in the EED gene, some genes remain turned on for longer, and this affects how the body tissues develop.", "affected": "Cohen-Gibson syndrome is very rare, and the true incidence and prevalence of the condition is unknown. As of 2024, fewer than 10 patients with this disorder have been reported in the medical literature. There does not seem to be a specific global superpopulation or subpopulation that is affected more frequently than others. Because the features of Cohen-Gibson syndrome overlap with those seen in Weaver syndrome, Imagawa-Matsumoto syndrome and other overgrowth conditions (see below), the diagnosis is best confirmed by finding a variant in EED that is classified by a genetic testing lab as likely pathogenic or pathogenic. Large DNA sequencing studies that have aggregated data from hundreds of thousands of healthy people and people with a variety of diseases have found that about 1 in 500 people have a detectable rare variant of unknown significance (VUS) in EED; since the prevalence of Cohen-Gibson syndrome cannot plausibly be 2 persons per 1,000 population, most variants in EED will not cause Cohen-Gibson syndrome.", "related-disorders": "Several rare overgrowth disorders have clinical features that can overlap with Cohen-Gibson syndrome. Weaver syndrome and Imagawa-Matsumoto syndrome are caused by likely pathogenic and pathogenic variants in EZH2 and SUZ12, respectively. Both disorders resemble Cohen-Gibson syndrome and include neurodevelopmental delays, unusual facial features and childhood-onset overgrowth. Sotos syndrome is caused by likely pathogenic and pathogenic variants in NSD1. There are many other syndromes that feature childhood overgrowth. Importantly, the overgrowth in Cohen-Gibson syndrome is symmetrical (affecting both sides of the body). The presence of asymmetrical overgrowth, where one side of the body grows larger than the other, should suggest a different subset of overgrowth disorders including Beckwith-Wiedemann syndrome.", "diagnosis": "Confident diagnosis of Cohen-Gibson syndrome requires clinical examination by a physician as well as clinical-grade DNA testing that identifies a likely pathogenic or pathogenic variant in the EED gene that affects the EED protein. Testing results from labs that are not accredited to provide clinical-grade testing should not be used for diagnosis, since both false positive and false negative results would result in an incorrect diagnosis.", "therapies": "There is currently no cure for Cohen-Gibson syndrome and there are no licensed medications that target the cause at the level of the EED protein. Supportive care remains the cornerstone of management. Multiple specialist visits in the early years are often required."}
{"OrphaCode": "ORPHA:56425", "name_zh": "冷凝集素病", "Name": "Cold agglutinin disease", "disease_name": "Cold Agglutinin Disease", "synonyms": "CAD", "disease-overview": "Cold agglutinin disease (CAD) is a rare autoimmune disorder characterized by the premature destruction of red blood cells (hemolysis). Autoimmune diseases occur when one’s own immune system attacks healthy tissue. More specifically, CAD is a subtype of autoimmune hemolytic anemia. In this type of disorder, red blood cells are tagged by antibodies and are then destroyed by other types of immune cells. The disease is termed cold because the antibodies are active and cause hemolysis at cold temperatures, usually 3 to 4oC (37 to 39oF), which is not necessarily the case in other types of autoimmune hemolytic anemia. CAD affects about one person per million every year, and mostly develops between the ages of 40 and 80 years. Normally, the red blood cells have a life span of approximately 120 days before they are destroyed by the spleen. In individuals with CAD, the red blood cells are destroyed prematurely and the rate of production of new cells in the bone marrow can no longer compensate for their loss. A decreased number of red blood cells (anemia) may cause fatigue, weakness, a pale skin color (pallor), dizziness, palpitations, and shortness of breath (dyspnea). Hemolysis leads to an increased release from red blood cells of hemoglobin, a protein responsible for carrying oxygen in the blood. Degradation of hemoglobin into bilirubin can result in yellowing of the skin and whites of the eyes (jaundice). Hemoglobin can also pass in the urine and give it a dark brown color. Other symptoms that can be triggered by exposure to cold include sweating and coldness of the fingers and/or toes (digits) and painful bluish or reddish discoloration of the skin of the digits, ankles, and wrists (acrocyanosis or Raynaud sign). Treatment of CAD includes avoidance of cold temperatures, treating anemia and hemolysis (if needed) and medications that modulate the immune system to decrease the production of antibodies against red blood cells. If applicable, the underlying disease that caused CAD should be treated.", "symptoms": "CAD typically develops in individuals between the age of 40 and 80, and is more common in elderly individuals. The symptoms associated with the disease are mostly the result of either hemolysis or circulatory symptoms, both of which are triggered by exposure to cold temperatures. Some individuals, especially those with mild hemolysis and a gradual onset of anemia, may not have any obvious symptoms (asymptomatic). Symptoms of anemia include paleness of the skin (pallor), fatigue, shortness of breath (dyspnea), dizziness and palpitations. In cases of brisk and severe hemolysis, chest pain, decreased alertness (lethargy), confusion, transient loss of consciousness  (syncope), and deregulation of heart rate and blood pressure (hemodynamic instability) might occur. Hemolysis also leads to increased release of hemoglobin (an oxygen-carrying protein) in the blood and urine, which can result in darkly pigmented urine. Hemoglobin is degraded into a yellow compound called bilirubin, which can accumulate and lead to yellowing of the skin and whites of the eyes (jaundice). Circulatory symptoms seen in CAD include coldness of the fingers and/or toes (digits) and painful bluish or reddish discoloration of the skin of the digits, ankles, and wrists (acrocyanosis or Raynaud phenomenon). In severe cases, ulcers may develop on the extremities of digits. There is a possibility that people living with CAD are at a higher risk of developing blood clots, although more studies are needed to clarify this potential association. CAD can be a long-standing (chronic) disease, but can be self-limited and clinically silent, especially when associated with infectious diseases (see below); although it can be caused by severe diseases, CAD itself does not seem to be associated with a significantly decreased life expectancy.", "causes": "CAD occurs when antibodies produced by the immune system bind to red blood cells and identify them as targets. Antibodies are specialized proteins that bind to invading organisms and contribute to their destruction. There are five main classes of antibodies -IgA, IgD, IgE, IgG, and IgM. Most cases of CAD are due to IgM antibodies. When antibodies attack healthy tissue, they may be referred to as autoantibodies. In the case of CAD, these autoantibodies are active and can trigger hemolysis when they are exposed to cold temperatures. Once red blood cells are tagged by a cold-induced antibody, they can clump (agglutinate) and are then bound by another component of the immune system known as complements. Once red blood cells are bound to complements, they are attacked and destroyed by different types of immune cells, such as macrophages.", "affected": "CAD most commonly affects people between the ages of 40 and 80. The median age at symptom onset is around 65 years, meaning that half of affected individuals develop symptoms before this age, and the other half after this age. The disease is present in about 16 people per million (prevalence), and develops in one person per million every year (incidence). The disease is almost twice as common in women compared to men. Those living with conditions associated with CAD (see causes section above) are more likely to develop the disease. CAD is also potentially more common, or at least more recognized, in colder climates.", "related-disorders": "Symptoms of the following disorders can be similar to those of CAD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Paroxysmal cold hemoglobinuria (PCH) is a type of cold-induced autoimmune hemolytic anemia. The hemolysis is usually brisk and can be associated with severe pain in the back and legs, headache, vomiting, diarrhea and passage of dark brown urine (hemoglobinuria). There may be temporary enlargement of the liver and spleen. This disorder is frequently associated with viral infections such as chickenpox and mumps. (For more information on this disorder, choose paroxysmal cold hemoglobinuria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:83595", "name_zh": "科罗拉多蜱传热", "Name": "Colorado Tick Fever", "disease_name": "Colorado Tick Fever", "synonyms": "CTF", "disease-overview": "Colorado Tick Fever is a rare viral disease transmitted by ticks that commonly inhabit the western United States. Major symptoms may include fever, headaches, muscle aches, and/or generalized discomfort (myalgia). The symptoms usually last for about a week and resolve on their own.", "symptoms": "Colorado Tick Fever typically has a sudden onset about five days after a tick bite.  It usually occurs at moderate altitudes during spring or early summer. The symptoms are flu-like and may include chills, headache, increased sensitivity to light (photophobia), fatigue, nausea, vomiting, and a lack of appetite.  Muscle pain occurs, especially in the legs and back.  There may be a slight, reddish rash, and the spleen can become enlarged (splenomegaly). Fever may rise sharply for two or three days and then subside only to return after a day or two (biphasic fever).  The second fever typically subsides after 2 to 4 days.", "causes": "Colorado Tick Fever is a rare viral disease caused by a virus belonging to the Coltivirus family.  It is transmitted to humans through the bite of the wood tick (Dermacentor andersoni).", "affected": "Colorado Tick Fever is a rare viral disease that affects males and females in equal numbers.  Most reported cases have occurred in the Rocky Mountain area of the United States and the western provinces of Canada.  Several hundred cases of this disease are reported each year in these areas where the wood tick lives (endemic).  However, it is possible that many additional cases are misdiagnosed or undiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of Colorado Tick Fever.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lyme Disease is an infectious inflammatory disease transmitted by a tick (Borrelia burgdorferi).  The early symptoms may include a characteristic red, round skin lesion (bull-eye rash), fever, muscle pain, chills, headache, nausea, and/or vomiting.  Swollen and/or painful joints may also occur. Neurological abnormalities may develop (e.g., meningitis, facial paralysis, involuntary muscle movements) but usually resolve completely without treatment.  (For more information on this disorder, choose Lyme as your search term in the Rare Disease Database.)", "therapies": "The diagnosis of Colorado Tick Fever is confirmed by isolation of the virus from the blood. Treatment for Colorado Tick Fever is symptomatic and may include acetaminophen to relieve headaches and muscle pain."}
{"OrphaCode": "ORPHA:1572", "name_zh": "普通变异型免疫缺陷病", "Name": "Common Variable Immune Deficiency", "disease_name": "Common Variable Immune Deficiency", "synonyms": "acquired hypogammaglobulinemia", "disease-overview": "Common variable immune deficiency (CVID) is a type of primary immunodeficiency, which is defined as an immune system dysfunction typically caused by a mutation in a gene or genes. The World Health Organization (WHO) recognizes more than 400 primary immunodeficiencies ranging from relatively common to quite rare.", "symptoms": "The clinical course and symptoms of CVID vary widely from mild to severe. The immunoglobulins affected also vary. For example, some patients have a deficiency in all three major types of immunoglobulins: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin M (IgM) while others have a shortage of just IgG and IgA. The diagnosis is made by finding that functional antibodies are very low or absent.", "causes": "The cause of CVID is unknown for most patients but a genetic cause has been identified in about 20%. Autosomal dominant (mostly) and autosomal recessive inheritance has been reported in CVID. More commonly, sporadic cases, with no apparent history of the disorder in their family, may still be caused by either rare autosomal defects or complex interactions of environmental and genetic causes (multifactorial inheritance). Mutations in genes that are involved in the development and function of B cells are only a small part of the genes that lead to CVID, as most the causal genes identified are those that are involved in regulation of immune responses.", "affected": "CVID equally affects males and females. The prevalence of CVID is approximately 1 in 30,000 people. The diagnosis of CVID is not made in children under the age of 4, because until that time, it may be confused with other genetic defects that must be excluded. In addition, it can be confused with physiologic immaturity. However, most patients have symptoms later and are not diagnosed until ages 20-40.", "related-disorders": "Symptoms of the following disorders may be similar to those of common variable immunodeficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes (B cells) in the blood and lymph. The types of agammaglobulinemia are: X-linked agammaglobulinemia (XLA), the much rarer X-linked agammaglobulinemia with growth hormone deficiency (about 10 cases reported), and autosomal recessive agammaglobulinemia. All of these disorders are characterized by a weakened immune system that must be strengthened by the administration of gammaglobulin in order to fight off infections. (For more information on this disorder, choose agammaglobulinemia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:83452", "name_zh": "复杂性局部疼痛综合征", "Name": "Complex Regional Pain Syndrome", "disease_name": "Complex Regional Pain Syndrome", "synonyms": "CRPS", "disease-overview": "", "symptoms": "The most common and prominent symptom of CRPS is the pain that affected individuals will feel. The pain is often deep inside the limbs with a burning, stinging or tearing sensation. Sensory changes are also common, and may include increased sensitivity to painful stimuli, feeling pain from stimuli that are usually non-painful and, in some instances, sensory loss (e.g., numbness).", "causes": "The exact causes of CRPS are unclear, but it is likely that there are multiple factors that contribute to its development.", "affected": "CRPS occurs 3 to 4 times more often in women than men. Although CRPS can occur at any age, it is rare in children and adolescents. In the pediatric population, the onset of CRPS usually occurs in early adolescence with the lower end of the range falling between 7 to 9 years. In adults, the age of onset is highly variable from 37 to 70 years of age. CRPS occurs most frequently in people of European ancestry (in about 66 to 80 percent of cases). In a study done in the United States, it was found that CRPS type I developed in 5.46 persons out of every 100,000 per year. It is estimated that CRPS affects nearly 200,000 patients annually in the United States.", "related-disorders": "Symptoms of some disorders may be similar to CRPS, and it is important to be able to be able to recognize them during the process of diagnosing CRPS.", "diagnosis": "Diagnosis of CRPS is suspected when a patient’s symptoms develop 4 to 6 weeks after limb trauma, symptoms cannot be fully explained by the initial trauma and the symptoms are regional (affecting an entire limb). Actual diagnosis of CRPS is made solely based on a history and physical examination to determine whether a patient meets CRPS diagnostic criteria (often called the Budapest criteria).", "therapies": NaN}
{"OrphaCode": "ORPHA:1871", "name_zh": "进行性视锥细胞营养不良", "Name": "Progressive cone dystrophy", "disease_name": "Cone Dystrophy", "synonyms": "retinal cone degeneration", "disease-overview": "", "symptoms": "The symptoms of cone dystrophy may vary from one person to another, even among individuals with the same form of the disorder. The age of onset, specific symptoms, severity and progression (if any) can vary greatly. The amount of vision loss varies and is difficult to predict. Affected individuals should talk to their physician and medical team about their specific case and associated symptoms.", "causes": "Many cases of cone dystrophy occur randomly for no identifiable reason (sporadically). Some forms are inherited in an autosomal dominant, autosomal recessive or X-linked pattern. Inherited forms of cone dystrophy are due to changes (mutations) in one of several genes that have been linked to cone dystrophy. These genes contain instructions for making proteins that play vital roles in the development, function and overall health of cone cells. The exact underlying mechanisms that cause cone dystrophy are not fully understood.", "affected": "Cone dystrophy affects males and females in equal numbers when it occurs sporadically or is inherited in an autosomal dominant or recessive pattern. The X-linked form of cone dystrophy only affects males fully, although some females may have mild symptoms of the disorder. The exact incidence of cone dystrophy is unknown. Most sources estimate that the condition affects 1 in 30,000 individuals in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of cone dystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of cone dystrophy is made based on identification of characteristic symptoms, a detailed family history, and a thorough clinical evaluation involving ophthalmological exams that measure visual acuity, the ability to perceive color and field of vision. An electroretinogram (ERG) is used to confirm the diagnosis of cone dystrophy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:418", "name_zh": "先天性肾上腺增生", "Name": "Congenital adrenal hyperplasia", "disease_name": "Congenital Adrenal Hyperplasia", "synonyms": "adrenogenital syndrome", "disease-overview": "Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH affects the adrenal glands located at the top of each kidney. Normally, the adrenal glands are responsible for producing three different hormones: corticosteroids, which gauge the body’s response to illness or injury; mineralocorticoids, which regulate salt and water levels; and androgens, which are male sex hormones. An enzyme deficiency will make the body unable to produce one or more of these hormones, which in turn will result in the overproduction of another type of hormone precursor in order to compensate for the loss. The most common cause of CAH is the absence of the enzyme 21-hydroxylase. Different variants in the gene responsible for 21-hydroxylase result in different levels of the enzyme, producing a spectrum of effects. CAH due to 21-hydroxylase deficiency is responsible for 95% of all cases of CAH and is broken down further into two subcategories: classical CAH, which can be sub-divided into the salt-losing form or the simple-virilizing form, and non-classical CAH. Classical CAH is by far the more severe form and can result in adrenal crisis and death if not detected and treated. Non-classical CAH is milder and may or may not present symptoms. Since the absence of 21-hydroxylase makes these individuals unable to make the hormone cortisol and, in the case of salt-losing CAH, aldosterone, the body produces more androgens which cause a variety of symptoms such as atypical genital development in infant girls. There are other much rarer forms of CAH as well, including 11-Beta hydroxylase deficiency, 17a- hydroxylase deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, congenital lipoid adrenal hyperplasia and p450 oxidoreductase deficiency which all present different symptoms. Although CAH is not curable, patients can go on to lead normal lives if they receive adequate care and treatment.", "symptoms": "Many individuals with CAH present with abnormally enlarged adrenal glands (hyperplastic adrenomegaly) that produce excessive amounts of androgens (male steroid hormones) leading to abnormal sexual development in females affected with the disease. Females with severe or classic virilizing CAH due to 21-hydroxylase deficiency will most likely have ambiguous or atypical external genitalia (masculinization or virilization), although they are genetically female and will have normal internal reproductive organs. Males with this type of CAH will not have ambiguous genitalia. Both genders can experience other symptoms such as early onset of puberty, fast body growth and premature completion of growth leading to short stature, if they are not diagnosed and treated in early life. About 75% of people with classical CAH due to 21-hydroxylase deficiency also have a deficiency of the hormone aldosterone, leading to the inability to retain salt and water (salt wasting). This results in excessive loss of water (dehydration), low circulating blood volume (hypovolemia) and abnormally low blood pressure (hypotension and shock). Without treatment, this severe form of CAH can lead to profound weakness, vomiting, diarrhea and circulatory collapse due to adrenal crisis. The remaining 25% are referred to as simple-virilizers and do not have a problem regulating salt and water levels. Fortunately, in the United States, and in many other developed countries, there is universal newborn screening for CAH due to 21-hydroxylase deficiency, and the vast majority of children are diagnosed and treated early to avoid these complications. The mild form of 21-hydroxylase deficiency (non-classical CAH) is not life-threatening and is due to a more common genetic variant. This mild form is not usually detected in our newborn screening programs, and it seldom requires early treatment. Symptoms in later childhood may include premature body hair or acne development. In adolescent females, the most common problems include excessive facial or body hair, menstrual irregularities, and pustular acne. Both genders have normal genitals. A small proportion of the non-classical CAH population has sub-fertility. Patients with CAH may or may not require treatment to improve their quality of life.", "causes": "Deletions and changes (mutations or variants) in the CYP21A2 gene account for all cases of the 21-hydroxylase deficiency form of CAH. Variants in the CYP11B1, CYP17A1, HSD3B2, CYP11A1, STAR and CYPOR genes are responsible, respectively, for 11-hydroxylase, 17-hydroxylase, 3-beta-hydroxysteroid dehydrogenase deficiencies, lipoid adrenal hyperplasia, and PORD, the other rarer forms of CAH.", "affected": "The most common form of CAH, 21 hydroxylase deficiency, affects approximately 1:10,000 to 1:15,000 people in the United States and Europe. Among Yupik Eskimos, the occurrence of the salt-wasting form of this disorder may be as high as 1 in 282 individuals. Other forms of CAH are much rarer. In contrast, non-classical CAH affects approximately 1 in 100 to 1 in 200 individuals in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of congenital adrenal hyperplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "All newborns in the United States are screened for classic 21-hydroxylase deficiency. Non-classic CAH is frequently not detected in the newborn test and therefore, may not be diagnosed until childhood or early adulthood when the patient first starts showing symptoms. Genetic testing for the gene variants associated with the various forms of CAH is available but is most often performed when pre-pregnancy genetic counseling is indicated, after an endocrinologist confirms the diagnosis through blood hormone tests, or if results of hormone tests are not definitive.", "therapies": "Treatment of CAH varies greatly depending on the type and severity. CAH cannot be cured, but it can be effectively treated. Treatment of classical CAH starts soon after birth and is needed throughout the patient’s life. People with classical CAH should have a team of healthcare providers, including specialists in pediatric endocrinology, uro-gynecologic surgery (for girls), psychology and genetics. People with classical CAH can have normal, fulfilling lives. Patients with non-classical CAH may not need any treatment, depending on their symptoms. Treatment must be individualized by doctors who have experience with this condition. The primary goal of treating classical CAH is to reduce the excess androgen production and replace the deficient hormones. Proper treatment with the correct dosage of these medications is crucial to preventing adrenal crisis and virilization. Daily tablets including glucocorticoids (usually as hydrocortisone to replace cortisol), mineralocorticoids (fludrocortisone to replace aldosterone) and salt supplements may be prescribed, the latter particularly in infancy. During times of high stress or illness adrenal glands are normally much more active. Therefore, when ill or after major surgery or stressful event, CAH patients must be closely monitored because their bodies will require more hormones to help the body recover and meet increased demands. Hormone levels need to be adjusted and monitored throughout the patient’s life. The dose of glucocorticoids should be adjusted to avoid development of Cushing’s syndrome, a disorder characterized by a variety of symptoms and physical abnormalities including weight gain; skin, muscle and bone changes. High dose mineralocorticoid supplements or salt should be avoided to prevent high blood pressure."}
{"OrphaCode": "ORPHA:98880", "name_zh": "家族性无纤维蛋白原血症", "Name": "Congenital Afibrinogenemia", "disease_name": "Congenital Afibrinogenemia", "synonyms": "", "disease-overview": "", "symptoms": "The absence of fibrinogen in the circulating blood of individuals with congenital afibrinogenemia makes them unable to effectively coagulate their blood, leading to prolonged bleeding. Bleeding episodes can be spontaneous or due to minor trauma and can happen anywhere in the body, including the skin, nose, oral cavity, gastrointestinal tract, liver, genital and urinary tract and central nervous system. Symptoms begin to show at birth with umbilical cord bleeding in around 85% of individuals. Bleeding might also be noticed in the stools or vomit of newborns.", "causes": "Absence of fibrinogen in the blood is caused by changes (pathogenic variants or mutations) in one of three genes, known as the fibrinogen alpha-chain (FGA), beta-chain (FGB), and gamma-chain (FGG).", "affected": "Congenital afibrinogenemia is a very rare disorder that affects approximately one in a million people. Males and females are equally affected. There doesn’t seem to be any ethnic predisposition to this disease. However, as it is an autosomal recessive disorder, children whose parents are blood relatives (consanguineous) are more at risk. Indeed, individuals from the same family are more likely to have the same rare gene variant and can have an affected child if they inherit the pathogenic variant from both parents. Therefore, the disease is more common in areas with high rates of consanguineous marriage, such as the Middle East and Southern India.", "related-disorders": "Symptoms of the following blood clotting disorders can be similar to those of congenital afibrinogenemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Factor XIII deficiency is a very rare inherited disorder that prevents the blood from clotting normally. The lack of clotting factor XIII can cause slow, oozing internal bleeding which may begin several days after even a mild trauma, such as a bump or bruise. The bleeding may persist so that large cysts form in the tissue spaces, destroying the surrounding bone and causing peripheral nerve damage. This typically occurs in the thigh and buttocks area. (For more information on this disorder, choose Factor XIII Deficiency as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:661", "name_zh": "Ondine综合征", "Name": "Congenital central hypoventilation syndrome", "disease_name": "Congenital Central Hypoventilation Syndrome", "synonyms": "congenital failure of respiratory drive", "disease-overview": "", "symptoms": "Respiratory system", "causes": "The underlying cause of CCHS is a change (mutation) in the PHOX2B gene, a key player in the prenatal development of the nervous system. The majority of individuals with CCHS (~90%) have mutations in exon 3 of the PHOX2B gene that normally has a repeat of 20 alanines. These mutations cause an increase in the number of these alanine repeats from the normal 20 alanines to a range of 24 to 33 alanines and are called poly-alanine repeat expansion mutations (PARMs). The remaining individuals with CCHS have different mutations in the PHOX2B gene not related to PARMs including missense, nonsense, frameshift, or stop codon mutations. These are non-poly-alanine repeat expansion mutations (NPARMs). Both PARMs and NPARMs lead to impaired function of the PHOX2B protein, and the variations in these mutations result in the broad range of symptoms and differing degrees of severity encountered among individuals with CCHS.", "affected": "CCHS is a rare disorder that affects females and males in equal numbers. Though the mutation is already present before birth, in milder cases the diagnosis may be missed until after the newborn period. Some affected individuals will not be identified until after receiving sedation, anesthesia, or anti-seizure medications, making it especially important to educate health care personnel about CCHS and to have a high index of suspicion for considering a diagnosis of CCHS. As of 2013, more than 1,000 cases are known worldwide. The birth prevalence of CCHS has been extrapolated from incidence figures and general birth rates, but the true prevalence is unknown as culturally diverse large population based studies have not been reported. Because the milder cases of CCHS may go unrecognized or misdiagnosed, it is difficult to estimate the true frequency of CCHS in the general population, though the anticipation is far greater than the current estimate.", "related-disorders": "The following disorders might be considered in the differential diagnosis of CCHS:", "diagnosis": "Along with early recognition of the clinical features of CCHS, the gold standard test to diagnose CCHS is genetic testing to identify mutations in the PHOX2B gene, including PARMs, NPARMs, or deletions and duplications.", "therapies": "A multidisciplinary team approach to the management of CCHS is essential to ensuring proper ventilation and development of children with CCHS. Local children’s hospitals may be sufficient in the management of CCHS. In complex cases, CCHS specialists (listed below) can be found throughout the world and can be consulted, or seen for management of CCHS. Primary team members who play an active role in patient management should include: the primary caregivers (parents or family members), pulmonologists, cardiologists, ENT physicians, gastroenterologists, endocrinologists, neurologists, ophthalmologists, social workers, and speech/language pathologists (SLPs)."}
{"OrphaCode": "ORPHA:70567", "name_zh": "胆管癌", "Name": "Cholangiocarcinoma", "disease_name": "Congenital Contractural Arachnodactyly", "synonyms": "CCA", "disease-overview": "Congenital contractural arachnodactyly (CCA) is an extremely rare genetic disorder characterized by a Marfan-like body habitus (tall, slender), the permanent fixation of certain joints (e.g., fingers, elbows, knees, and hips) in a flexed position (contractures); abnormally long, slender fingers and toes (arachnodactyly); permanently flexed fingers (camptodactyly); and/or differently shaped ears resulting in a crumpled appearance. In addition, affected individuals may exhibit front-to-back and side-to-side curvature of the spine (kyphoscoliosis); feet that are differently positioned (talipes equinovarus or clubfoot); outward displacement of the fingers (ulnar deviation of the fingers); a short neck. Rarely, affected individuals may have a slight deformity of the valve on the left side of the heart (mitral valve prolapse). CCA is inherited in an autosomal dominant pattern.", "symptoms": "CCA encompasses a broad range of symptoms. The specific symptoms that develop in each individual case and the severity of symptoms often vary. Most individuals have permanent fixation of certain joints in a flexed position (contractures) that is present a birth (congenital). The joints of the fingers, elbows, knees and hips are most often affected. In most cases, contractures improve with age.", "causes": "CCA occurs due to changes (variants or mutations) to the fibrillin-2 (FBN2) gene.", "affected": "CCA affects males and females in equal numbers. The prevalence of CCA is unknown. For years, researchers speculated that the Marfan syndrome (another rare connective tissue disorder) and CCA may be the same disorder because of the overlap of clinical symptoms. However, investigators have determined these disorders are caused by variants in different genes confirming that CCA is a distinct disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of CCA. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Arthrogryposis multiplex congenita is a rare congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue. Symptoms of this disorder may be a fixed range of motion of joints; shoulders that are bent inward and internally rotated; wrists and fingers that are bent and muscles that are underdeveloped. (For more information on this disorder, choose arthrogryposis multiplex congenita as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:137", "name_zh": "先天性糖基化障碍", "Name": "Congenital disorder of glycosylation", "disease_name": "Congenital Disorders of Glycosylation", "synonyms": "CDG", "disease-overview": "", "symptoms": "CDG encompass a wide variety of disorders and symptoms. Their severity and prognosis vary greatly depending upon the specific type of CDG, even among individuals with the same type or from the same family. In addition, most types of CDG have only been reported in a handful of individuals, which makes it difficult for physicians to have an accurate picture of associated symptoms and prognosis. In most cases, these disorders become apparent in infancy. It is important to note that affected individuals will not always have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "As discussed above, CDG are caused by a deficiency or lack of specific enzymes or other proteins involved in the formation of sugar trees (glycans) and their binding to other proteins or lipids (glycosylation). Glycosylation is an extensive and complex process that modifies 1000’s of proteins. Hundreds of different genes and unique enzymes are involved in glycosylation. These genes contain instructions for creating (encoding) these enzymes. An individual with a CDG lacks functional levels of one of these enzymes because of a mutation in the corresponding gene. Due to lack of or diminished levels of these enzymes, glycosylation is impaired. Improper glycosylation is the underlying problem in individuals with CDG. The specific organs affected and the various symptoms that develop depend, in part, upon the specific gene and protein product involved. Not all CDG types are caused by mutations in enzymes. Sometimes they result from mutations in proteins that transport, organize or direct other molecules within cells.", "affected": "Congenital disorders of glycosylation affect males and females in equal numbers. The exact incidence or prevalence of these disorders is the general population is unknown. Researchers believe that many cases go unrecognized or misdiagnosed, making it difficult to determine their true frequency. As these disorders become better known and more types are identified, more cases should be recognized. The most common type (PMM2-CDG) has been reported in more than 1,000 individuals, but the real frequency is probably much higher.", "related-disorders": "Numerous different metabolic disorders share similar signs and symptoms to CDG, and comparisons may be useful for a differential diagnosis. Such disorders include congenital muscle disorders (myopathies), urea cycle disorders, inborn errors of bile metabolism, fatty acid oxidation disorders, organic acidurias, peroxisome biogenesis disorders and sphingolipidoses. Additional disorders that have similar signs and symptoms include cerebral palsy, Prader-Willi syndrome, congenital coagulation disorders, ataxia-telangiectasia and other hereditary ataxias. (For more information on these disorders, choose the specific disorder or umbrella group name as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of a CDG may be suspected based upon the identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. A variety of specialized tests may be necessary to confirm a diagnosis of CDG and/or to determine the specific subtype. CDG should be considered and ruled out in any unexplained syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79277", "name_zh": "先天性红细胞生成性卟啉病", "Name": "Congenital erythropoietic porphyria", "disease_name": "Congenital Erythropoietic Porphyria", "synonyms": "CEP", "disease-overview": "Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) and the fluid-filled sacs rupture, and the lesions often get infected. These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. CEP is inherited as an autosomal recessive genetic disorder. Typically, there is no family history of the disease. Neither parent has symptoms of CEP, but each carries a defective gene that they can pass to their children. Affected offspring have two copies of the defective gene, one inherited from each parent.", "symptoms": "The most common symptom of CEP is hypersensitivity of the skin to sunlight and some types of artificial light (photosensitivity), with blistering of the skin occurring after exposure. Affected individuals may also exhibit abnormal accumulations of body fluid under affected areas (edema) and/or persistent redness or inflammation of the skin (erythema). Affected areas of the skin may develop sac-like lesions (vesicles or bullae), scar, and/or become discolored (hyperpigmentation) if exposure to sunlight is prolonged. These affected areas of skin may become abnormally thick. In addition, in some cases, affected individuals may also have loss of nails and end digits of the fingers due to infection of the underlying bone. Loss of sun exposed facial features such as lips, parts of the ears, and nose can also occur. The severity and degree of photosensitivity differ depending on the severity of the patient’s gene lesions which correlate with the deficient enzyme activity. Photosensitivity is seen from birth; however, in some cases, it may not occur until childhood, adolescence or adulthood. Patients also often have brownish discolored teeth (erythrodontia) which fluoresce under ultraviolet light as well as increased hair growth (hypertrichosis).", "causes": "Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, and usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.", "affected": "CEP is a very rare genetic disorder that affects males and females in equal numbers. Over 200 cases have been reported worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of CEP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "CEP is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular porphyrins in the body due to deficiencies of specific enzymes essential to the synthesis of heme for hemoglobin and other hemo-proteins. The symptoms associated with the various types of porphyria differ, depending upon which of the eight enzymes in the heme biosynthesis pathway is deficient. There are two major types of porphyria: The cutaneous porphyrias which present with skin involvement, and the acute porphyrias which are usually characterized by abdominal pain and neurological symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2020", "name_zh": "先天性肌型比例失调肌病", "Name": "Congenital Fiber Type Disproportion", "disease_name": "Congenital Fiber Type Disproportion", "synonyms": "CFTD", "disease-overview": "", "symptoms": "The symptoms of CFTD are similar to other types of congenital myopathy and may vary from person to person. Onset of symptoms occurs at birth or in early infancy. The severity of symptoms is highly variable, ranging from mild deficits to severe weakness that may result in death in early childhood. In many patients with CFTD, the health problems are less severe than those of other classic congenital myopathies.", "causes": "The clinical features of CFTD arise at least in part from abnormalities in the relative size and distribution of certain types of muscle fibers, most notably fiber types I and II. Muscle fibers are the highly organized, specialized, contractile cells of skeletal or cardiac muscle tissue. Type I fibers are considered slow twitch and participate in longer, more-sustained periods of contraction, whereas type II fibers are considered fast twitch and participate in faster bursts of activity. Ordinarily, type I fibers are slightly larger than type II fibers. In individuals with CFTD, type I fibers are abnormally, uniformly small (hypotrophy) and are usually (but not always) present in increased numbers.", "affected": "CFTD affects males and females in equal numbers. In a meta-analysis examining CFTD prevalence across European, North American and Asian populations, a pooled prevalence of the disorder for all-age population was estimated to be between 0.23 per 100,000 and between 0.25 per 100,000 for a pediatric population. Based on these prevalence estimates, CFTD is considered a rare disease.", "related-disorders": "Symptoms of the following disorders can resemble those of CFTD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of CFTD may be suspected based on a thorough clinical evaluation and identification of characteristic findings (i.e., hypotonia and muscle weakness). However, clinical presentation alone is not enough to diagnose CFTD because symptoms are similar to other types of congenital myopathies. A diagnosis of CFTD is confirmed if type I muscle fibers are, on average, significantly (12-40%) smaller in diameter than type II muscle fibers on muscle biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:45358", "name_zh": "先天性广泛眼外肌纤维化综合征", "Name": "Congenital fibrosis of extraocular muscles", "disease_name": "Congenital Fibrosis of the Extraocular Muscles", "synonyms": "congenital fibrosis syndrome", "disease-overview": "Congenital fibrosis of the extraocular muscles (CFEOM) includes at least five rare genetic eye movement disorders present at birth that are characterized by incomitant strabismus. Specifically, there is an inability to move the eyes in certain directions (opthalmoplegia), droopy eyelids (ptosis) and eyes that are fixed in an abnormal position. The oculomotor nucleus and nerve (cranial nerve III) and the muscles it serves and, in some cases the trochlear nucleus and nerve (cranial nerve IV) and/or the abducens nucleus and nerve (cranial nerve VI) and the muscles they serve are affected.", "symptoms": "Affected individuals have limited ability to move their eyes vertically (upward and downward) and can have variable limitations in moving their eyes horizontally. CFEOM is also frequently associated with droopy eyelids (ptosis) and eyes that are fixed in an abnormal position. Individuals with CFEOM often have their eyes fixed in a downward position, and elevate the chin so they can see. These disorders have been classified as CFEOM1, CFEOM2, and CFEOM3 based on ophthalmologic findings and molecular genetic testing. CFEOM3 can be characterized by additional involvement of the peripheral and central nervous system in addition to the eye findings. Tukel syndrome is characterized by missing and webbed fingers and toes in addition to the eye findings. These disorders do not worsen over time.", "causes": "CFEOM 1 and CFEOM 3 are inherited as autosomal dominant genetic conditions. CFEOM 2 and Tukel syndrome are inherited as autosomal recessive genetic conditions.", "affected": "CFEOM are rare disorders that have been seen in a range of diverse ethnic populations and affect males and females. A minimum prevalence has been estimated to be 1 in 230,000.", "related-disorders": "Strabismus is a common group of eye movement disorders in which the eyes are not properly yoked together and one or both eyes are misaligned and cannot be voluntarily controlled. Strabismus is either concomitant or incomitant. Concomitant strabismus occurs when the misalignment, or the angle of deviation between the two eyes, remains constant and independent of the direction of gaze. Strabismus is incomitant when the misalignment varies with gaze direction. Congenital cranial dysinnervation disorders include the various forms of incomitant strabismus such as CFEOM, Duane syndrome, Moebius syndrome, and Brown syndrome. Strabismus may be an isolated finding or found in association with other birth defects.", "diagnosis": "The diagnosis of CFEOM is made by a thorough eye examination, with special attention to the presence of other eye or systemic malformations. Measurements of the ocular (eye) misalignment, ocular range of motion, head turn, glove (eyeball) retraction, palpebral fissure (eye opening) size, and upward and downward movement of the eye are taken. Forced duction (the rotation of the eye by its extraocular muscles) and vision tests are also recommended.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:528", "name_zh": "Berardinelli-Seip先天性脂肪营养不良", "Name": "Congenital generalized lipodystrophy", "disease_name": "Congenital Generalized Lipodystrophy", "synonyms": "Berardinelli-Seip syndrome", "disease-overview": "", "symptoms": "Infants with all forms of CGL have a near total absence of body fat at birth or soon thereafter. They also have an extremely muscular appearance and may display prominent superficial veins. During early childhood, most children grow at an accelerated rate and have slightly enlarged hands, feet, and jaws (acromegaloid features). Infants and children have a markedly increased appetite and have been described as voracious eaters.", "causes": "CGL is caused by variants (mutations) of specific genes. Four genes that cause CGL have been identified including the AGPAT2 gene, which causes CGL type 1; the BSCL2 gene, which causes CGL type 2; the CAV1 gene, which causes CGL type 3; and the CAVIN1 gene, which causes CGL type 4. Some individuals with CGL do not have a mutation in any of these genes, suggesting that additional, as yet unidentified genes can cause the disorder.", "affected": "Approximately 500-600 patients with CGL have been reported in the medical literature. The estimated worldwide prevalence ranges from 1 in a million to 1 in 10 million individuals in the general population. The disorder has been reported in individuals of every ethnic group.", "related-disorders": "Symptoms of the following disorders can be similar to those of CGL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CGL is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A lipodystrophy diagnosis should be suspected in individuals who are lean or non-obese and who present with early diabetes, severe hypertriglyceridemia, hepatic steatosis, hepatosplenomegaly, acanthosis nigricans and/or polycystic ovarian syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:60041", "name_zh": "先天性心脏传导阻滞", "Name": "Congenital heart block", "disease_name": "Congenital Heart Block", "synonyms": "atrioventricular (AV) block", "disease-overview": "Congenital heart block (CHB), or atrioventricular block (AVB), is characterized by interference of the transfer of the electrical nerve impulses (conduction) that regulate the normal and rhythmic pumping action of the heart muscle. The severity of such conduction abnormalities varies among affected individuals.", "symptoms": "The presentation of congenital heart block varies with age of onset, underlying etiology, and type of heart block.", "causes": "Over half the cases of congenital heart block (60-90 percent) are associated with an autoimmune disorder in the affected individual’s mother such as systemic lupus erythematosus or Sjogren’s syndrome. This results in a passively acquired autoimmune disease in the child termed neonatal lupus. Autoimmune disorders occur when the body’s natural defenses against foreign or invading organisms (antibodies) begin to attack healthy tissue for unknown reasons. Congenital heart block may result when maternal antibodies cross the placenta, enter the fetus, and attack the fetal cardiac conduction system. The antibodies that were originally produced by the mother’s body to fight infections recognize parts of the conduction system in the fetal heart as foreign and abnormally attack and damage the tissues, resulting in inflammation and scarring which leads to faulty conduction. Neonatal lupus may present with other symptoms such as cutaneous lupus lesions and liver abnormalities, though these symptoms normally resolve after a few months of age when the maternal antibodies have been cleared. The heart conduction system abnormalities, on the other hand, are irreversible. Autoimmune heart block is typically of the third degree and begins in utero, while heart block due to other causes tends to present after birth and may be first, second, or third degree. In fact, up to 40 percent of AV block cases do not present until later in childhood, out of which only around 5 percent are of autoimmune origin. (For information on neonatal lupus, choose lupus as your search term in the Rare Disease Database.)", "affected": "Congenital heart block is a rare disorder that appears to affect males and females in equal numbers. In the general population, the incidence varies between 1 in 15,000 to 1 in 22,000 live births. The incidence of complete (third degree) congenital heart block is one in approximately 20,000 to 25,000 live births.", "related-disorders": "Symptoms of bundle branch block, another disorder affecting the heart’s electrical activity, can be similar to those of congenital heart block. Comparison may be useful for a differential diagnosis.", "diagnosis": "The prenatal diagnosis of congenital heart block is more common as cardiac imaging techniques are improving. A growing number of autoimmune cases are being diagnosed between 18 and 24 weeks of pregnancy, leading to a better prognosis. Diagnosis depends on the results of one or more cardiac imaging tests such as fetal electrocardiography (ECG) and fetal echocardiography. This may help determine the type of heart block and may rule out any structural heart anomalies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:485426", "name_zh": "单发先天性肝硬化", "Name": "Congenital Hepatic Fibrosis", "disease_name": "Congenital Hepatic Fibrosis", "synonyms": "CHF", "disease-overview": "Congenital hepatic fibrosis (CHF) is a rare disease that is present at birth (congenital) and affects the liver. CHF rarely occurs as an isolated problem, and is usually associated with ciliopathies that affect the kidneys, called hepatorenal fibrocystic diseases (FCD). These include polycystic kidney disease (PKD), nephronophthisis (NPHP) chronic tubulointerstitial disease, and others. Typical liver abnormalities include an enlarged liver (hepatomegaly), increased pressure in the venous system that carries blood from different organs to the liver (portal hypertension), and fiber-like connective tissue that spreads over and through the liver (hepatic fibrosis). Gastrointestinal (stomach and intestine) bleeding, splenomegaly (enlarged spleen) and hypersplenism (decreased platelet and other blood counts due to enlarged spleen) may be early signs of this condition.", "symptoms": "The more obvious symptoms are a swollen abdomen, a firm, slightly enlarged and abnormally shaped liver and vomiting blood (hematemesis) due to bleeding from the enlarged blood vessels (varices) under the inner lining of the esophagus, stomach, and intestines. There is an increased risk for inflamed bile ducts (cholangitis) as well. The main findings in this disorder are identified through diagnostic testing. Many of the following signs are present in affected individuals with this disorder:", "causes": "CHF is caused by abnormal development of the portal veins and bile ducts that begins with a malformation in the embryonic structure called the ductal plate. CHF rarely occurs as an isolated problem, and is usually associated with ciliopathies that are associated with kidney disease, called hepatorenal fibrocystic diseases (FCD). These include polycystic kidney disease (PKD), nephronophthisis (NPHP) chronic tubulointerstitial disease, and others.  FCDs are caused by defects in proteins on the primary (immotile) cilia that interfere with receiving signals from other cells or fluids nearby.  FCDs can be inherited as autosomal recessive, autosomal dominant or X-linked disorders.  Mutations in many different genes are associated with the various FCDs. No specific genes have been associated with isolated CHF.", "affected": "The frequency of CHF is not known. The prevalence has been estimated to be 1/10,000 -20,000 based on the prevalence of ciliopathies that are associated with CHF.", "related-disorders": "Symptoms of the following disorders can be similar to those of CHF. Comparisons may be useful for a differential diagnosis.", "diagnosis": "CHF is diagnosed by ultrasound exam and magnetic resonance imaging of the liver and kidneys, and rarely, by liver biopsy. CHF and Caroli’s syndrome are often associated with cystic disease of the kidneys. Family history, physical exam, and various tests including kidney ultrasound exam, kidney function tests, X-rays, eye exam, brain MRI, and molecular genetic testing can help to determine the underlying FCD syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:657", "name_zh": "先天性孤立型高胰岛素血症", "Name": "Congenital Hyperinsulinism", "disease_name": "Congenital Hyperinsulinism", "synonyms": "CHI", "disease-overview": "Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. About 60% of babies with HI are diagnosed during the first month of life. An additional 30% will be diagnosed later in the first year and the remainder after that. With early treatment and aggressive prevention of hypoglycemia, brain damage can be prevented. However, brain damage can occur in children with HI if the condition is not recognized or if treatment is ineffective in the prevention of hypoglycemia.", "symptoms": "It is often difficult to identify symptoms of HI because they are often confused with typical behaviors of newborns and infants. Common symptoms include irritability, sleepiness, lethargy, excessive hunger and rapid heart rate. More severe symptoms, such as seizures and coma, can occur with a prolonged or extremely low blood sugar level. Common symptoms of low blood sugar in older children and adults include feelings of shakiness, weakness, or tiredness, confusion and rapid pulse. More severe symptoms include seizures or coma.", "causes": "A number of causes exist. Some forms will resolve and are considered transient. Others arise from genetic defects and persist for life. These genetic forms of HI do not go away, but in some cases, may become easier to treat as the child gets much older.", "affected": "HI affects both males and females and has been reported in many countries. In most countries it occurs in approximately 1/25,000 to 1/50,000 births.", "related-disorders": "Due to the similarity in names people often confuse hyperinsulinemia with hyperinsulinism. Hyperinsulinemia is something completely different but over production of insulin is also involved and the names are similar.", "diagnosis": "The diagnosis of HI may be quite difficult if one relies on demonstrating a detectable blood insulin concentration at the time of hypoglycemia because insulin levels fluctuate widely over time in patients with HI. Other signs and chemical markers must be used to provide clues to excess insulin action and are often easier to demonstrate.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70472", "name_zh": "先天性乳酸酸中毒，Saguenay-Lac-Saint-Jean型", "Name": "Congenital Lactic Acidosis", "disease_name": "Congenital Lactic Acidosis", "synonyms": "", "disease-overview": "Lactate is a chemical compound normally produced by all cells and plays important roles in several chemical processes in the body. Lactic acidosis occurs when lactate and other molecules, called protons, accumulate in bodily tissues and fluids faster than the body can remove them. Consequently, tissues and fluids may become acidic and impair the normal functioning of cells. Lactic acidosis can have many different causes and is often present in severely ill patients hospitalized in intensive care units.", "symptoms": "The enzyme deficiencies that give rise to congenital lactic acidosis can potentially affect many different organ systems of the body and, therefore, lead to a wide variety of symptoms and signs. Whereas some individuals may have persistently elevated levels of lactic acid in blood, cerebrospinal fluid and urine, other people may have only occasional increases in lactic acid that are brought on by another illness, such as an infection, a seizure or an asthmatic attack.", "causes": "Most cases of congenital lactic acidosis are caused by one or more inherited mutations of genes in DNA located in the nucleus (nDNA) or in genes in the mitochondria (mtDNA) of cells. Genes carry the genetic instructions for cells. A mutation (also called a pathogenic variant) is a change in a gene located in nuclear or mitochondrial DNA that may cause disease. Mutations in nDNA, which occur in cellular chromosomes, can be inherited in different patterns, including autosomal recessive, autosomal dominant or X-linked recessive inheritance.", "affected": "Congenital lactic acidosis affects males and females in equal numbers. The exact incidence of congenital lactic acidosis is unknown. One estimate is that the incidence is 250-300 live births per 1,000 per year in the United States. However, it is likely that many cases go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of congenital lactic acidosis in the general population.", "related-disorders": "", "diagnosis": "A diagnosis of congenital lactic acidosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood and cerebrospinal fluid tests can reveal certain findings associated with congenital lactic acidosis such as elevated levels of lactate. An enzyme deficiency may be diagnosed by tests conducted on white blood cells or on skin or muscle cells obtained by biopsy. Genetic testing can be used to determine the molecular cause (pathogenic variants or mutations) of congenital lactic acidosis in many patients.", "therapies": NaN}
{"OrphaCode": "ORPHA:66628", "name_zh": "先天性瘦素缺乏所致肥胖症", "Name": "Congenital Leptin Deficiency", "disease_name": "Congenital Leptin Deficiency", "synonyms": "obesity due to congenital leptin deficiency", "disease-overview": "", "symptoms": "Most babies with CLD have a normal weight at birth. The earliest symptoms of CLD are constant hunger and excessive eating leading to rapid weight gain and obesity before one year of age. People with CLD always feel hungry even after eating a full meal and often have abnormal behaviors related to food. Many have low levels of sex hormones (hypogonadotropic hypogonadism) causing delayed or absent puberty and infertility. Other symptoms include low energy levels, low blood pressure and insulin resistance, which can lead to type 2 diabetes. Children with CLD are often prone to infections, due to an immune system that doesn’t work correctly. Excessive weight gain can lead to other symptoms such as abnormal bone growth, liver disease and difficultly walking.", "causes": "CLD is caused by pathogenic variants (mutations) in the LEP gene. The LEP gene is responsible for making the protein, leptin.  Leptin is made by fat cells and helps regulate energy storage in the body by balancing how much fat is made and how much is burned for energy. Without leptin, the body doesn’t recognize when the body has enough energy and it’s time to stop eating.", "affected": "Congenital leptin deficiency is a very rare disorder. It has been estimated that 1 in 4.4 million people may have this condition. Many come from parts of the world where it is customary for relatives to marry.", "related-disorders": "CLD is one of several rare inherited conditions that include early-onset extreme obesity with few or no other signs or symptoms. These conditions are due to variants in one of the genes that normally work together to help regulate hunger and growth of body fat. These conditions may be difficult to diagnose based solely on clinical examination and sometimes genetic testing is the only way to tell the difference between them.", "diagnosis": "Congenital leptin deficiency is diagnosed based on a clinical examination, symptoms and the results of laboratory and genetic testing. Because there are several inherited conditions that include excessive hunger and early-onset obesity, genetic testing may be done to help make a specific diagnosis. This testing often involves using a gene panel, allowing the lab to look for genetic variants in several different genes at the same time. Genetic testing is usually done with a blood or saliva sample. It is helpful to speak to a genetics professional before having genetic testing to learn more about the risk, benefits and limitations.", "therapies": "Congenital leptin deficiency is treatable with leptin replacement using recombinant human leptin, also known as metreleptin. Treatment results in a decreased appetite and significant weight and fat loss.  In addition, leptin replacement leads to normal sexual development, decreased insulin levels and restores the immune system."}
{"OrphaCode": "ORPHA:97242", "name_zh": "先天性肌营养不良", "Name": "Congenital muscular dystrophy", "disease_name": "Congenital Muscular Dystrophy", "synonyms": "CMD", "disease-overview": "", "symptoms": "The onset, specific symptoms, and severity of CMD varies considerably even among affected members of the same family. Several different methods of classifying the CMDs have been proposed. One classification separates these disorders based upon the primary genetic defect. This classification has three main categories: CMDs caused by defective genes that produce structural proteins of the basement membrane or the extracellular matrix, a complex structure that surrounds and supports cells; CMDs caused by defective genes that produce proteins essential for the normal attachment or binding (glycosylation) of sugar molecules to dystroglycan, a protein found on the membrane (sarcolemma) of muscle cells; or CMDs caused by a defective selenoprotein 1 (SEPN1) gene, which produces a protein without a currently known function. Recently, defective genes that produce proteins of the nuclear envelope, the double-layered membrane that covers the nucleus of certain cells, have also been linked to CMD.", "causes": "Most of the congenital muscular dystrophies are inherited as autosomal recessive conditions.", "affected": "CMD affects males and females in equal numbers. The exact incidence and prevalence of CMD is unknown. One estimate based upon findings within an Italian population place the incidence at 1 in 125,000. Another study placed the incidence in western Sweden at 1 in 16,000. However, these findings may not be applicable in other parts of the world. The muscular dystrophies as a whole are estimated to affect approximately 250,000 people in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of congenital muscular dystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CMD is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms, and a variety of specialized tests including surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers; a test that assesses the health of muscles and the nerves that control muscles (electromyography); specialized blood tests; tests that evaluate the presence and number of certain muscle proteins (immunohistochemistry); magnetic resonance imaging (MRI), and molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:590", "name_zh": "先天性肌无力综合征", "Name": "Congenital myasthenic syndrome", "disease_name": "Congenital Myasthenic Syndromes", "synonyms": "CMS", "disease-overview": "", "symptoms": "The cardinal symptom of all myasthenic disorders is muscle weakness that is induced or worsened by exertion. This is referred to as fatigable weakness. In healthy people, physical activity causes a small decrease in the number of ACh quanta released from the nerve terminal that does not impair the safety margin of neuromuscular transmission, but it is incapacitating in myasthenic patients in whom the safety margin is already reduced.", "causes": "Congenital myasthenic syndromes are caused by alterations (mutations) in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "", "related-disorders": "", "diagnosis": "A generic diagnosis of a CMS can be made on clinical grounds from a history of fatigable weakness involving ocular muscles, bulbar muscles (muscles of the face, and muscles used for speaking and swallowing), and limb muscles since infancy or early childhood, a history of similarly affected relatives, and a variety of tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97245", "name_zh": "先天性肌病", "Name": "Congenital Myopathy", "disease_name": "Congenital Myopathy", "synonyms": "CM", "disease-overview": "", "symptoms": "The subtypes of CM have highly variable severity of muscle loss symptoms and differ in the age of onset.", "causes": "There is still emerging research on the causes of CM and mutations in more than twenty genes have been associated with CM. Genes responsible for calcium ion balance in muscle cells have been implicated in some inherited forms of the disease. Calcium ion balance is important in muscle cells because calcium is a signal for muscle cells to contract. Other mutations described in CM patients occur in genes that lead to malformed filaments in muscle cells. These filaments are normally responsible for the contraction of muscles.", "affected": "Congenital myopathy is an extremely rare disorder that generally affects males and females in equal numbers. There are subsets of centronuclear myopathy, i.e. XLMTM that affect males more than females.", "related-disorders": "Symptoms of the following disorders can be similar to those of congenital myopathy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Congenital hypotonia is a non-progressive neuromuscular disorder that is present at birth. This condition is characterized by decreased muscle tone or floppiness with no known cause or may be a symptom of another disorder. Newborns with this disorder have muscle weakness and generalized weakness. In many children, the symptoms improve as the child ages.", "therapies": "Adults with congenital myopathy should be encouraged to get adequate exercise and to avoid unhealthy dietary and sedentary habits that may lead to obesity. Affected adults may experience episodes of mild muscle weakness, but generally there are no major physical disabilities."}
{"OrphaCode": "ORPHA:2414", "name_zh": "先天性肺淋巴管扩张症", "Name": "Congenital pulmonary lymphangiectasia", "disease_name": "Congenital Pulmonary Lymphangiectasia", "synonyms": "CPL", "disease-overview": "Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder that is present at birth (congenital). Affected infants have abnormally widened (dilated) lymphatic vessels within the lungs. The lymphatic system helps the immune system in protecting the body against infection and disease. It consists of a network of tubular channels (lymph vessels) that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph accumulates in the tiny spaces between tissue cells and contains proteins, fats, and certain white blood cells known as lymphocytes.", "symptoms": "Much of the older medical literature suggests that CPL has an extremely high mortality rate. However, recent studies suggest that the disorder does not have as poor a prognosis as described and that symptoms may improve with age in some cases.", "causes": "The exact cause of CPL is unknown. Most cases occur randomly, for no apparent reason (sporadically). The disorder may be caused by a congenital defect in the development of the lung or result from obstruction of the lymph vessels in the lungs (pulmonary lymphatics). Some cases have been associated with genetic multisystem disorders including Noonan syndrome, Turner syndrome, Hennekam syndrome or Fryns syndrome. CPL may be inherited as dominant, recessive, or X-linked inheritance pattern.", "affected": "According to some reports CPL occurs more often in males than females. However, the data is not conclusive and CPL may occur in males and females in equal numbers. The exact number of cases of CPL is unknown. In the past, the disorder was associated with high mortality in the newborn period. CPL was first described in the medical literature in 1856.", "related-disorders": "Symptoms of the following disorders can be similar to those of CPL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CPL may be made based upon a thorough clinical evaluation, identification of characteristic symptoms and a variety of specialized imaging tests. These may include high resolution helical chest computed tomography (CT) scans. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of an organ's tissue structure. In individuals with CPL, CT scans may reveal fluid build up in the chest cavity or lung tissue, showing the characteristic diffuse thickening of the interstitium. An imaging procedure called lymphoscintigraphy may be used to provide pictures of the lymphatic system, and it is very useful to detect diffuse aspects of congenital lymphatic dysplasia, such as lymphedema.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35122", "name_zh": "先天性蔗糖酶异麦芽糖酶缺乏", "Name": "Congenital sucrase-isomaltase deficiency", "disease_name": "Congenital Sucrase-Isomaltase Deficiency", "synonyms": "CSID", "disease-overview": "Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugars (i.e., sucrose) and certain products of starch digestion (dextrins). The sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections (microvilli or brush border) lining the small intestine. When this enzyme complex is deficient, nutrients based on ingested sucrose and starch cannot be absorbed properly from the gut.", "symptoms": "CSID is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. When the concentration of this enzyme complex is low or absent, the breakdown of the disaccharide sucrose and starch and the subsequent absorption of smaller molecular components cannot take place.", "causes": "CSID is inherited as an autosomal recessive genetic trait. The faulty gene has been tracked to chromosome 3 (3q25-q26).", "affected": "CSID is a metabolic disorder that affects males and females in equal numbers and is diagnosed in approximately 0.2 percent of North Americans. This disorder has a higher frequency among Greenland and Canadian Inuit populations, with a reported incidence of approximately 10 percent. In addition, researchers report a higher degree of homozygosity among these more frequently affected groups than among other groups. Also, as a diagnosis may be easily missed, especially in those individuals with mild symptoms, many researchers suspect there may be a higher incidence of this disorder than is actually reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of CSID. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Congenital lactase deficiency (lactose intolerance) is an extremely rare metabolic disorder characterized by the severe deficiency or absence of the enzyme lactase. This enzyme, found in the brush border membrane of the intestine, aids in the breakdown of the disaccharide lactose, found in mother’s milk. Symptoms appear within a few hours or days of birth and may include severe diarrhea with dehydration, malnutrition, undigested lactose in the stool, and/or excoriation of the skin of the buttocks. Research has shown that affected children exhibit normal progress in growth and development when kept on a lactose-free diet. In addition, an adult form of inherited lactase deficiency is quite common among the world’s population. Symptoms of this adult-onset disorder may include abdominal pain, abnormal amounts of gas or air in the digestive system (flatulence), and/or diarrhea. Both congenital and adult-onset lactase deficiency are inherited as autosomal recessive genetic traits.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:499009", "name_zh": "先天性梅毒", "Name": "Congenital syphilis", "disease_name": "Congenital Syphilis", "synonyms": "Lues, Congenital", "disease-overview": "Congenital syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not become apparent until several weeks or months after birth and, in some cases, may take years to appear. Congenital syphilis is passed on to the child from the mother who acquired the disease prior to or during pregnancy. The infant is more likely to have congenital syphilis when the mother has been infected during pregnancy although it is not uncommon for an infant to acquire congenital syphilis from a mother who was infected prior to pregnancy. Symptoms of early congenital syphilis include fever, skin problems and low birth weight. In late congenital syphilis, the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases, the disease may remain latent for years with symptoms not being diagnosed until well into adulthood.", "symptoms": "Congenital syphilis is acquired by the fetus when the treponema pallidum spirochete is present in the mother. Pregnant women with syphilis may have a reduction in estrogen while serum progesterone levels may increase. Symptoms of early congenital syphilis usually appear at three to fourteen weeks of age but may appear as late as age five years. Symptoms may include inflammation and hardening of the umbilical chord, rash, fever, low birth weight, high levels of cholesterol at birth, aseptic meningitis, anemia, monocytosis (an increase in the number of monocytes in the circulating blood), enlarged liver and spleen, jaundice (yellowish color of the skin), shedding of skin affecting the palms and soles, convulsions, mental retardation, periostitis (inflammation around the bones causing tender limbs and joints), rhinitis with an infectious nasal discharge, hair loss, inflammation of the eye’s iris and pneumonia.", "causes": "Congenital syphilis is a chronic infectious disease caused by the spirochete treponema pallidum and transmitted by an infected mother to the fetus in the womb. Adults transmit syphilis through sexual contact. (For information on syphilis in adults choose Syphilis as your search term in the Rare Disease Database).", "affected": "In 1998, the National Syphilis Elimination Plan went into effect. One of the goals of this plan was to reduce the incidence of congenital syphilis (CS) to fewer than 40 cases per 100,000 live births. The incidence of congenital syphilis in newborns under a year old rose in the United States from 180 cases in 1957 to 422 cases in 1972. More recently there has been a dramatic increase of congenital syphilis, especially in urban areas, that has been attributed in part to crack cocaine use. In the year 2000, the incidence rate was about 13.4 per 100,000 live births, which represented about 529 cases.", "related-disorders": "Symptoms of the following disorders can be similar to those of Congenital Syphilis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Bejel, or endemic syphilis, is an infectious disease caused by an organism (treponema pallidum II) related to and identical in appearance to that causing venereal syphilis. This infection causes lesions of the skin and bone and is common among children in the Mediterranean countries of the Middle East, northern Africa, parts of eastern Europe, Arabia, subsaharan Africa, and Southeast Asia. In the United States, however, it is rare. Bejel is transmitted by physical, non-sexual contact and the sharing of eating and drinking utensils. (For more information on this disease choose Bejel as your search term in the Rare Disease Database)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95430", "name_zh": "先天性气管软化", "Name": "Congenital tracheomalacia", "disease_name": "Congenital Tracheomalacia", "synonyms": "congenital major airway collapse", "disease-overview": "", "symptoms": "Many patients with congenital tracheomalacia do not have symptoms. The most common symptoms include:", "causes": "Congenital tracheomalacia can be associated with:", "affected": "The prevalence of congenital tracheomalacia is roughly estimated to be around 1 in 2,100 livebirths. It is often associated with certain genetic conditions or structural birth defects (see Causes).", "related-disorders": "Tracheobronchomalacia – the cartilage of both the trachea and bronchi are weakened, causing them to collapse when exhaling", "diagnosis": "Congenital tracheomalacia is diagnosed by bronchoscopy to visualize the airway collapsing as the patient breathes. The patient is awake but numbed so they can take deep breaths during the procedure. Additional imaging may include a CT scan, a chest x-ray and/or an MRI to determine if a blood vessel is compressing the airway.", "therapies": "Since many cases of congenital tracheomalacia resolve before two years of age, the objective is to manage any symptoms by a multidisciplinary team of professionals. These therapies may include:"}
{"OrphaCode": "ORPHA:465", "name_zh": "先天性纤溶酶原激活物抑制剂1型缺乏症", "Name": "Congenital Type 1 Plasminogen Deficiency", "disease_name": "Congenital Type 1 Plasminogen Deficiency", "synonyms": "", "disease-overview": "", "symptoms": "The signs and symptoms of type 1 plasminogen deficiency can vary from one person to another, even among members of the same family with the same genetic variants and enzyme levels. Oftentimes, initial signs are present in infants or young children. Symptoms may be persistent and lifelong, may wax and wane or be intermittent or may not appear until later in life. Some individuals appear to remain asymptomatic and may be diagnosed based upon testing of clinically apparent family members. Lesions may develop spontaneously or be ‘triggered’ by infection, trauma or injury and may be localized to one area of the body or affect multiple body systems.", "causes": "Congenital type 1 plasminogen deficiency is caused by changes (mutations or pathogenic variants) in the plasminogen (PLG) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a pathogenic variant of a gene is present, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Congenital type 1 plasminogen deficiency is a rare disorder that occurs worldwide. Slightly more females have been identified than males. The exact incidence or prevalence of the disorder is not completely established, but the current best estimate places the incidence at 1.6 people per 1,000,000 in the general population. Incidence is the rate of new or newly diagnosed people with a disorder. Prevalence is the overall number of people who have the disorder at a given time. People with no symptoms or a mild case with localized symptoms may remain undiagnosed.", "related-disorders": "", "diagnosis": "A diagnosis of congenital plasminogen deficiency is based upon identification of characteristic symptoms, family medical history, detailed patient history and a thorough clinical evaluation. Some affected individuals may be identified due to another family member’s diagnosis even if they are without symptoms. Diagnosis is confirmed by specific laboratory tests that measure the activity and immunoreactive level (also called the antigen level) of plasminogen; the activity level is decreased while the immunoreactive level is normal or near normal. These tests are available in most clinical coagulation laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:291", "name_zh": "先天性水痘综合征", "Name": "Congenital varicella syndrome", "disease_name": "Congenital Varicella Syndrome", "synonyms": "Fetal Effects of Chickenpox", "disease-overview": "Congenital Varicella Syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth (congenital) due to the mother’s infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin; the arms, legs, hands, and/or feet (extremities); the brain; the eyes; and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.", "symptoms": "Affected newborns may have low birth weight and characteristic abnormalities of the skin; the arms, legs, hands, and/or feet (extremities); the brain; the eyes; and/or, in rare cases, other areas of the body.  The range and severity of symptoms and physical findings may vary greatly from case to case depending upon when maternal chickenpox occurred during fetal development.  For example, while some affected infants may exhibit only characteristic skin and limb malformations, others may have only specific eye abnormalities (e.g., cataracts) and/or may experience symptoms associated with brain involvement.", "causes": "Congenital varicella syndrome is an extremely rare disorder in which affected infants demonstrate distinctive abnormalities at birth due to the mother’s infection with chickenpox (maternal varicella zoster) early during pregnancy.", "affected": "Congenital varicella syndrome is an extremely rare disorder that appears to affect male and female newborns in equal numbers.  Symptoms and physical characteristics associated with the disorder are apparent at birth.", "related-disorders": "Symptoms of the following disorders may be similar to those of Congenital Varicella Syndrome.   Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of congenital varicella syndrome is usually suggested by confirmation of maternal varicella zoster infection early during pregnancy and the presence of certain characteristic symptoms and physical findings in the developing fetus or newborn.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35173", "name_zh": "X-连锁显性点状软骨发育不良", "Name": "X-linked dominant chondrodysplasia punctata", "disease_name": "Conradi Hünermann Syndrome", "synonyms": "CDPXD2", "disease-overview": "", "symptoms": "The symptoms, progression and severity of Conradi-Hünermann syndrome can vary dramatically, even among members of the same family. The disorder can cause serious complications at birth or be so mild that individuals may not be identified until adulthood (usually after having a child with Conradi-Hünermann syndrome). It is important to note that individuals with Conradi-Hünermann syndrome may not have all of the symptoms discussed below. Individuals with Conradi-Hünermann syndrome should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The classic symptoms of Conradi-Hünermann syndrome involve the skeleton, skin and eyes. Intelligence is usually unaffected.", "causes": "Conradi-Hünermann syndrome is caused by particular changes that disrupt the function of the emopamil-binding protein (EBP) gene. This gene codes for a substance called 3β-hydroxysteroid-∆8,∆7- isomerase or sterol-∆8-isomerase, that works to excite a reaction (enzyme). This enzyme is important in the final steps of the production of cholesterol. Cholesterol is a waxy, fat substance that is present in all the cells of the body. Cholesterol is produced by our cells and obtained by the food we consume. Although too much cholesterol increases our risk for heart disease, cholesterol plays an important role in development before and after birth. The lack of cholesterol has been shown to disrupt certain molecular signaling that impacts the development of the limbs of a fetus. As a result of the dysfunction of sterol-∆8-isomerase, there is an accumulation of substances that precede cholesterol (precursor compounds) called sterols that accumulate and are toxic. How exactly the disruption of cholesterol production results in the signs and symptoms associated with Conradi-Hünermann syndrome are not fully understood.", "affected": "Conradi-Hünermann syndrome is a rare disorder that almost exclusively affects females. The exact incidence of the disorder in the general population is unknown, but one estimate is that 1 in 100,000 to 1 in 200,000 individuals are born with Conradi-Hünermann syndrome. The disorder is often apparent at birth (congenital), but some individuals with mild cases may not be identified until adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of Conradi-Hünermann syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Conradi-Hünermann syndrome is based upon identification of characteristic symptoms, a detailed medical history, thorough clinical evaluation and a variety of specialized tests. X-ray (radiographic), eye (ophthalmologic), skin (dermatological), tissue examination (histological exam) and biochemical examinations may be performed to help diagnose Conradi-Hünermann syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:444092", "name_zh": "自身免疫性间质性肺病-关节炎综合征", "Name": "Autoimmune interstitial lung disease-arthritis syndrome", "disease_name": "COPA Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes or factors (e.g. environmental factors) influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Individuals and parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "COPA is caused by a variation in the coatomer protein complex subunit alpha (COPA) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Initial reports have shown more females being affected than males. Larger groups of patients will need to be identified to confirm whether women are affected more often than men. Less than 100 families have been identified with this disorder in the medical literature, but the exact number of people who have this disorder is unknown. The low number of people identified with this disorder is because COPA syndrome was only first defined as a disorder in 2015, and genetic testing has only recently become available. In general, rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. COPA syndrome is likely underrecognized and underdiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of COPA syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of COPA syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Molecular genetic testing can confirm a diagnosis. Two findings that are suggestive of COPA syndrome are diffuse alveolar hemorrhaging and follicular bronchiolitis. Follicular bronchiolitis is when there is an overgrowth (hyperplasia) of lymphoid tissue within the small airways (bronchioles) of the lungs causing inflammation of those airways. Lymphoid tissue is the tissue in the body that produces white blood cells and antibodies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1463", "name_zh": "三房心", "Name": "Triatrial heart", "disease_name": "Cor Triatriatum", "synonyms": "Cor Triatriatum Sinistrum", "disease-overview": "Cor triatriatum is an extremely rare congenital (present at birth) heart defect. Normally, the human heart has four chambers of which two are the atria. These two are separated from each other by a partition (septum) called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. In cor triatriatum there is a small extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra third atrium. The passage of blood from the lungs into the heart (left atrium and ventricle) is slowed by this extra chamber. Cor triatriatum may eventually lead to features of congestive heart failure and obstruction over time.", "symptoms": "The symptoms of cor triatriatum vary greatly, depending on the size of the opening between the extra chamber and the left atrium.  If the opening is small, symptoms usually develop early in infancy and probably will include abnormally rapid breathing (tachypnea), wheezing, coughing, and/or abnormal accumulation of fluid in the lungs (pulmonary congestion).  Progressive enlargement of the heart (cardiomegaly) occurs and often results in congestive heart failure along with abnormally high pressure within the artery that leads to the heart from the lungs (pulmonary artery).  Some newborns with cor triatriatum may also have abnormal heart sounds or heart murmurs.", "causes": "The exact cause of cor triatriatum is not known.", "affected": "Cor triatriatum is an extremely rare congenital heart condition that affects males and females in equal numbers.  In the USA, this disorder accounts for an extremely small percentage (0.1% to 0.4%) of all infants with congenital heart disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of cor triatriatum.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrial Septal Defects are common congenital heart defects characterized by the presence of a small opening between the two atria of the heart.  This defect leads to an increase in the workload on the right side of the heart, and excessive blood flow to the lungs.  The symptoms, which may occur during infancy, childhood, or adulthood, can vary greatly and depend on the severity of the defect.   The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, abnormal bluish discoloration of the skin and/or mucous membranes (cyanosis).  Some people with Atrial Septal Defects may be at increased risk for the formation of blood clots that can travel to the major arteries of the blood system (embolism).  (For more information on this disorder, choose Atrial Septal Defects as your search term in the Rare Disease Database.)", "therapies": "Infants with cor triatriatum should be referred to a hospital that can perform sophisticated diagnostic procedures and cardiovascular surgery. Most patients with cor triatriatum will require surgery at a young age, usually before the age of one year."}
{"OrphaCode": "ORPHA:34533", "name_zh": "角膜营养不良", "Name": "Corneal Dystrophies", "disease_name": "Corneal Dystrophies", "synonyms": "", "disease-overview": "Corneal dystrophies are a group of genetic, often progressive, eye disorders in which abnormal material often accumulates in the clear (transparent) outer layer of the eye (cornea). Corneal dystrophies may not cause symptoms (asymptomatic) in some individuals; in others they may cause significant vision impairment. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. The disorders have some similar characteristics – most forms of corneal dystrophy affect both eyes (bilateral), progress slowly, do not affect other areas of the body, and tend to run in families. Most forms are inherited as autosomal dominant traits; a few are inherited as autosomal recessive traits.", "symptoms": "The symptoms of corneal dystrophies result from the accumulation of abnormal material within the cornea, the clear outer layer of the eye. The cornea serves two functions – it protects the rest of the eye from dust, germs and other harmful or irritating material, and it acts as the eye’s outermost lens, bending incoming light onto the inner lens, where the light is then directed to the retina (a membranous layer of light-sensing cells in the back of the eye). The retina converts light to images, which are then transmitted to the brain. The cornea must remain clear (transparent) to be able to focus incoming light.", "causes": "Most cases of corneal dystrophy are inherited as an autosomal dominant trait with variable expressivity. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Corneal dystrophies affect women and men in equal numbers, except for Fuchs corneal dystrophy which affects women about four times as often as men. The corneal dystrophies can affect individuals of any age. The incidence of corneal dystrophies is unknown. Because some individuals do not have symptoms (asymptomatic), determining the true frequency of these disorders in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of corneal dystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The presence of a corneal dystrophy may be found incidentally during a routine eye examination. A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history and a variety of tests, such as a slit lamp examination, in which a special microscope (slit lamp) allows a physician to view the eye through high magnification. Some specific corneal dystrophies can be diagnosed with molecular genetic tests even before symptoms develop.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:199", "name_zh": "德朗热综合征", "Name": "Cornelia de Lange syndrome", "disease_name": "Cornelia de Lange Syndrome", "synonyms": "BDLS", "disease-overview": "Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is generally apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth delay); characteristic appearance of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe intellectual disability. Many infants and children with the disorder have an unusually small, short head (microbrachycephaly); a prominent vertical groove between the upper lip and nose (philtrum); a depressed nasal bridge; upturned nostrils (anteverted nares); and a small chin (micrognathia). Additional characteristic facial features may include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the forehead and the back of the neck; and curly, unusually long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, and webbing (syndactyly) of certain toes. Less commonly, there may be absence of the forearms, hands, and fingers. Infants with CdLS may also have feeding and breathing difficulties; an increased susceptibility to respiratory infections; a low-pitched growling cry and low voice; heart defects; delayed skeletal maturation; hearing loss; or other physical differences. The range and severity of associated symptoms and findings may be extremely variable from person to person.", "symptoms": "CdLS is a very rare disorder characterized by growth delays; distinctive facial features; malformations of the hands, feet, arms, and/or legs (limb anomalies); other physical differences; intellectual disability and/or developmental delays. The range and severity of symptoms and physical characteristics may vary greatly from person to person.", "causes": "CdLS can be inherited as an autosomal dominant condition or an X-linked condition. Most affected individuals have an abnormal gene as a result of a new gene mutation. Seven genes have been found to be associated with CdLS including the NIPBL gene on chromosome 5, the SMC1A gene on the X chromosome, the SMC3 gene on chromosome 10, the Rad21 gene on chromosome 8, the HDAC8 gene on the X chromosome, the ANKRD11 on chromosome 16 and the BRD4 gene on chromosome 19. Approximately 60% of those affected have a NIPBL gene mutation and a small percentage (about 10%) have mutations in the other genes. Other genes may be found to be associated with CdLS in the future.", "affected": "CdLS is a very rare disorder that is apparent at birth (congenital). Males and females appear to be affected in equal numbers. It has been estimated that CdLS occurs in approximately one in every 10,000 live births in the United States. More than 400 cases have been reported in the medical literature, including affected individuals within several families (kindreds). Multiple affected siblings have been reported in some families. It is estimated that there is a 1-2 % rate of recurrence within affected families.", "related-disorders": "Symptoms of the following disorders can be similar to those of Cornelia de Lange syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Coffin-Siris syndrome is an extremely rare genetic disorder that is present at birth (congenital). Infants with this disorder typically have underdeveloped (hypoplastic) or missing fifth fingers on both hands. The toenails may be underdeveloped or absent. Affected individuals may also exhibit characteristic abnormalities of the head and facial (craniofacial) area including a small head (microcephaly), broad nose, wide mouth with thick lips, low nasal bridge, widely-spaced eyes (ocular hypertelorism), droopy upper eyelids (ptosis), thick eyelashes, dental abnormalities and/or sparse scalp hair. During infancy, many affected individuals have feeding difficulties, vomiting, slow growth and/or frequent respiratory infections. During the first two years of life, developmental delays, unusually short stature, and varying degrees of intellectual disability may become apparent. Some children with Coffin-Siris syndrome may also have additional physical differences including abnormally loose joints (laxity) that may result in frequent dislocations, particularly of the elbows; mild to severe muscle weakness (hypotonia); motor delays; sideways curvature of the spine (scoliosis) and/or other skeletal, gastrointestinal, genitourinary and/or cardiac malformations. In some cases, Coffin-Siris syndrome may occur randomly, for no apparent reason (sporadically); in other cases, the disorder may be inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose Coffin Siris as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3071", "name_zh": "Costello综合征", "Name": "Costello syndrome", "disease_name": "Costello Syndrome", "synonyms": "faciocutaneoskeletal syndrome", "disease-overview": "Costello syndrome is an extremely rare disorder that affects multiple organ systems of the body. This condition is characterized by growth delays after birth; short stature; extra loose skin on the neck, palms of the hands, fingers, and soles of the feet; noncancerous tumors (papillomata) around the face and anus; developmental delay and intellectual disability; and a characteristic facial appearance. Other physical features may include the development of dry hardened skin on the palms of the hands and the soles of the feet (palmoplantar hyperkeratosis), abnormally deep creases on the palms and soles, and/or abnormally flexible joints of the fingers (hyperextensible). There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy. Characteristic craniofacial features may include an abnormally large head (macrocephaly); coarse facial features; unusually thick lips; and/or abnormally wide nostrils (nares). Affected individuals have an increased lifetime risk to develop specific malignant tumors. Costello syndrome is an autosomal dominant genetic condition caused by mutations in the HRAS gene.", "symptoms": "Infants with Costello syndrome typically have a normal or high birth weight, but show poor sucking ability, have swallowing difficulties, and fail to grow and gain weight at the expected rate (failure to thrive). Growth delay after birth typically results in short stature during childhood and adulthood. Affected children may have developmental delay or mild to moderate intellectual disability. In some individuals, speech development and/or the ability to walk is significantly delayed. Children with Costello syndrome generally have warm, sociable personalities.", "causes": "Costello syndrome is inherited as an autosomal dominant genetic condition and is caused my mutations in the HRAS gene. Mutations in this gene result in production of an abnormal H-Ras protein that leads to continuous cell growth and division.", "affected": "Costello syndrome is a very rare disorder that affects males and females in relatively equal numbers. Approximately 350 affected individuals have been reported worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of Costello syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cardiofaciocutaneous (CFC) syndrome is an extremely rare inherited disorder characterized by multiple defects that affect various parts of the body. The major features of this disorder include growth failure; characteristic facial appearance; sparse hair; variable skin disease; heart defects; and/or mild to moderate intellectual disability. Characteristic facial features may include an abnormally large head (macrocephaly) with a prominent forehead (frontal bossing), widely-spaced eyes (ocular hypertelorism), a short upturned nose, and/or unusually shallow eye socket ridges (hypoplastic orbital ridges). CFC syndrome is a dominant genetic disorder caused by a gene abnormality (mutation) in one of three genes named BRAF, MEK1 and MEK2. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC. (For more information on this disorder, choose cardiofaciocutaneous as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1520", "name_zh": "颅额鼻发育不良", "Name": "Craniofrontonasal dysplasia", "disease_name": "Craniofrontonasal Dysplasia", "synonyms": "CFND", "disease-overview": "Craniofrontonasal dysplasia (CFND) is a very rare inherited disorder characterized by body – especially facial – asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin. In addition, the head may have an unusual shape due to premature closure of the fibrous joints (sutures) between certain bones in the skull (coronal synostosis). CFND is an X-linked genetic disorder that occurs mostly in females and is caused by a mutation in the EFNB1 gene.", "symptoms": "The symptoms of CFND vary greatly in number and severity among affected individuals. The most common symptoms of this disorder include widely spaced eyes (ocular hypertelorism), a vertical groove (cleft) on the tip of the nose, shoulder and limb abnormalities and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). The head typically has an unusual shape due to premature closure of the fibrous joints (sutures) between certain bones in the skull (coronal synostosis) resulting in facial asymmetry.", "causes": "CFND is an X-linked disorder caused by a mutation in the EFNB1 gene. There have been at least 33 different mutations of the EFNB1 gene identified. All daughters of affected males are affected, consistent with X-linked inheritance.", "affected": "CFND is a very rare genetic disorder that affects females more often than males. Females have a more severe form of the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of craniofrontonasal dysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability. Aarskog syndrome is inherited as an X-linked recessive genetic condition.  (For more information on this disorder, choose Aarskog as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97242", "name_zh": "先天性肌营养不良", "Name": "Congenital muscular dystrophy", "disease_name": "Craniometaphyseal Dysplasia", "synonyms": "CMD", "disease-overview": "", "symptoms": "CMD is often first noticed within the first few weeks of life. The early symptoms of CMD are difficulty eating and breathing.", "causes": "CMD is a genetic condition caused by changes (mutations) in the genes ANKH or GJA1. The function of ANKH is to move a chemical called pyrophosphate in the body. The function of GJA1 is to create a passage for chemicals in the body between cells.", "affected": "CMD is a very rare disorder. Males and females are affected equally. Little is known about how many people have CMD.", "related-disorders": "Pyle’s disease has features similar to CMD. Pyle’s disease is a disorder of the bones. Pyle’s disease and CMD both have widening of the long bones of the arms and legs. Persons with Pyle’s disease have wide collar bones (clavicle), ribs, or bones in the fingers and hands. These bones are usually not wide in persons with CMD. Pyle’s and CMD can have delayed presence of adult teeth. Pyle’s disease can also have misplacement of the teeth, muscle weakness, and pain in the joints.", "diagnosis": "A diagnosis of CMD can be made by an examination by a doctor familiar with craniofacial disorders. X-rays or other imaging are often required to diagnose and treat CMD. Genetic testing can also help diagnose CMD.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:54595", "name_zh": "颅咽管瘤", "Name": "Craniopharyngioma", "disease_name": "Craniopharyngioma", "synonyms": "Rathke pouch tumor", "disease-overview": "", "symptoms": "They are almost always benign but they can cause symptoms by compressing closely located important anatomical structures such as the pituitary gland, the hypothalamus, and the crossing of the two optic nerves (optic chiasm). Limb weakness (paresis), difficulty walking, seizures, and psychiatric symptoms such as paranoid delusions can also occur from compression of the brain. Another general consequence of tumor compression is a raise in intracranial pressure, which can cause symptoms such as headache and nausea. As craniopharyngiomas are difficult to treat and located in an anatomical location difficult to access and close to many important structures, patients can experience many symptoms that are related to the treatment of the disease rather than the disease itself.", "causes": "Craniopharyngiomas are caused by malformations of embryonic tissue in the sellar and parasellar regions. Adamantinomatous craniopharyngioma, which occur mostly in children, and papillary craniopharyngioma, which occur mostly in adults, have different embryological origins.", "affected": "Craniopharyngiomas occur in around 0.5 to 2 people per million each year and represent around 1.2 to 4% of all intracranial tumors in children. They mostly develop in two age groups (bimodal incidence peaks): children aged 0 to 14 years and adults aged 50 to 74 years. They occur in men and women equally. Adamantinomatous craniopharyngioma are more common, representing 86 to 89% of all craniopharyngiomas.", "related-disorders": "Disorders that can damage or compress structures in proximity to the sellar region, such as the pituitary gland, the hypothalamus, and the optic chiasm, can have clinical manifestations similar to those of a craniopharyngioma. Examples of entities that can lead to compression or damage include tumors, cysts, and blood vessel disruptions.", "diagnosis": "A diagnosis of craniopharyngioma is based on three main modalities: clinical history and physical exam, laboratory testing, and imaging.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:52503", "name_zh": "X-连锁肌酸转运蛋白缺乏", "Name": "X-linked creatine transporter deficiency", "disease_name": "Creatine Transporter Deficiency", "synonyms": "creatine transporter defect", "disease-overview": "", "symptoms": "The severity of CTD varies from patient to patient. Global developmental delays affect all children with this disorder and may be the first sign, appearing before other symptoms. Intellectual disability of variable severity is typically present with prominent speech and language delay, autistic behavior and seizures.", "causes": "CTD is caused by a change (called a variant or mutation) in the creatine transporter gene, SLC6A8. This mutation results in a block in the transport of creatine to the brain and muscle.", "affected": "CTD is estimated to account for 1-2% of all unexplained X-linked intellectual disabilities. It is the most common of the three cerebral creatine deficiency syndromes.", "related-disorders": "Children with CTD often have autism or global developmental delays.", "diagnosis": "Testing in both urine and plasma is recommended by measuring the concentration of creatine (Cr), guanidinoacetate (GAA) and creatinine (Crn). A positive screen for CTD is based on normal plasma GAA and creatine, with abnormally elevated urine creatine being elevated (maybe normal in females).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:454700", "name_zh": "获得性克雅氏病", "Name": "Creutzfeldt-Jakob Disease", "disease_name": "Creutzfeldt-Jakob Disease", "synonyms": "CJD", "disease-overview": "", "symptoms": "All types of Creutzfeldt-Jakob disease (CJD) are extremely rare degenerative brain disorders (i.e., spongiform encephalopathies), characterized by the sudden onset of cognitive impairments and neuromuscular symptoms. Specific signs and symptoms of each type are outlined below.", "causes": "All types of CJD are caused by the presence of abnormal prion proteins in the brain. Abnormal changes in the prion protein are thought to play some role in causing deterioration in certain areas of the brain, appearing as sponge-like holes and gaps (thus, the term spongiform encephalopathy). Such spongiform deterioration in turn results in the progressive neurological and neuromuscular symptoms associated with CJD.", "affected": "CJD affects males and females in equal numbers. It is rare, arising in approximately one to two individuals per million people each year.", "related-disorders": "Symptoms of the following disorders may be similar to those of Creutzfeldt-Jakob disease (CJD). Comparison may be useful for a differential diagnosis:", "diagnosis": "Prion diseases", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:280", "name_zh": "Wolf-Hirschhorn综合征", "Name": "Wolf-Hirschhorn syndrome", "disease_name": "Cri du Chat Syndrome", "synonyms": "5p- syndrome", "disease-overview": "", "symptoms": "The symptoms of cri du chat syndrome vary from case to case. The characteristic high-pitched, shrill cry associated with cri du chat syndrome is present during the first few weeks of life. The cry, which resembles the mewing of a cat, becomes less pronounced as affected infants grow older.", "causes": "Cri du chat syndrome is a chromosomal disorder caused by a partial deletion (monosomy) of a varying length of the short arm (p) of chromosome 5. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated p and a long arm designated q.", "affected": "Cri du chat syndrome affects females more often than males. The incidence ranges from 1-15,000 to 50,000 live births. Some cases of cri du chat syndrome may go undiagnosed making it difficult to determine the true frequency of this disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of cri du chat syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In newborns, the diagnosis of cri du chat syndrome is confirmed by a thorough clinical evaluation, identification of characteristic findings (e.g., cat-like cry) and chromosomal studies (karyotyping) that reveal a deletion on the short arm of chromosome 5. A specific test known as fluorescence in situ hybridization (FISH) may be used to confirm a diagnosis of cri du chat syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:205", "name_zh": "Crigler-Najjar综合征", "Name": "Crigler-Najjar syndrome", "disease_name": "Crigler Najjar Syndrome", "synonyms": "familial nonhemolytic unconjugated hyperbilirubinemia", "disease-overview": "", "symptoms": "The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.", "causes": "Crigler-Najjar syndrome is caused by an alteration (mutation) in the UGT1A1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Crigler-Najjar syndrome affects males and females in equal numbers. The incidence is estimated to be 1 in 750,000-1,000,000 people in the general population. Many researchers believe that the disorder often goes undiagnosed or misdiagnosed making it difficult to determine its true frequency in the general population. It is likely more common than estimated.", "related-disorders": "Symptoms of the following disorders can be similar to those of Crigler-Najjar syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis may be suspected within the first few days of life in infants with persistent jaundice. A diagnosis may be confirmed by a thorough clinical evaluation, characteristic findings, detailed patient history, and specialized testing. For example, in infants with this disorder, blood tests reveal abnormally high levels of unconjugated bilirubin in the absence of increased levels of red blood cell degeneration (hemolysis), as in Rh disease (isoimmunization). In addition, bile analysis reveals no detectable bilirubin glucuronides and urine analysis may demonstrate a lack of bilirubin.", "therapies": "Treatment is directed toward lowering the level of unconjugated bilirubin in the blood. Early treatment is imperative in Crigler-Najjar syndrome type I to prevent the development of kernicterus during the first few months of life. Because Crigler-Najjar syndrome type II is milder and responds to phenobarbital, treatment is different."}
{"OrphaCode": "ORPHA:2930", "name_zh": "Cronkhite-Canada综合征", "Name": "Cronkhite-Canada syndrome", "disease_name": "Cronkhite-Canada Syndrome", "synonyms": "allergic granulomatous angiitis of Cronkhite-Canada", "disease-overview": "Cronkhite-Canada syndrome (CCS) is an extremely rare disease characterized by various intestinal polyps, loss of taste, hair loss, and nail growth problems. It is difficult to treat because of malabsorption that accompanies the polyps. CCS occurs primarily in the older population (average age 59) and predominantly occurs in males. It is considered to be an acquired, not hereditary, disease.", "symptoms": "The symptoms of Cronkhite-Canada syndrome occur because of multiple polyps occurring in the stomach, small intestine, colon and, less frequently, the esophagus. These include chronic or recurring watery diarrhea, cramps, and abdominal discomfort. These people may also have abnormally low levels of protein in the blood (protein-losing enteropathy), causing a feeling of general ill health (cachexia), malnutrition, nausea and vomiting.", "causes": "The exact cause of Cronkhite-Canada syndrome is unknown. It seems to occur for no known reason (sporadically) and is not thought to be hereditary.", "affected": "Cronkhite-Canada syndrome is an extremely rare disorder that affects males predominantly. (The ratio seems to be approximately 3 males to 2 females.) Typically, the age of onset is during the middle years or old age. The average is about 59 years with a range of 31 to 86 years. Worldwide, over 500 cases have been reported in the past 50 years, primarily in Japan but also in the United States and other countries.", "related-disorders": "Symptoms of the following disorders can be similar to those of Cronkhite-Canada syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps) appearing on average at age 16 years. If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. FAP is inherited in an autosomal dominant manner and caused by abnormalities (mutations) in the APC gene. (For more information on this disorder, choose FAP as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:207", "name_zh": "遗传性家族性颅面骨畸形", "Name": "Crouzon syndrome", "disease_name": "Crouzon Syndrome", "synonyms": "craniofacial dysostosis", "disease-overview": "", "symptoms": "Crouzon syndrome, also known as craniofacial dysostosis, is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis) and distinctive facial features. Cranial and facial malformations may vary, ranging from mild to potentially severe, including among members of the same family (kindred).", "causes": "Crouzon syndrome is caused by changes (pathogenic variants or mutations) in one of the FGFR genes, most commonly FGFR2. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Crouzon syndrome affects males and females. Some articles in the medical literature report that males are affected more often than females. Crouzon syndrome is estimated to affect about 1.6 in 100,000 people in the general population. All forms of craniosynostosis are estimated to affect about 1 in 2,000-2,5000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of Crouzon syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Crouzon syndrome is usually diagnosed at birth or during infancy based upon a thorough clinical evaluation, identification of characteristic physical findings and a variety of specialized tests. Such testing may include advanced imaging techniques, such as computerized tomography (CT) scanning or magnetic resonance imaging (MRI) or other imaging studies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1546", "name_zh": "隐球菌病", "Name": "Cryptococcosis", "disease_name": "Cryptococcosis", "synonyms": "Busse-Buschke Disease", "disease-overview": "Cryptococcosis is caused by a fungus known as Cryptococcosis neoformans. The infection may be spread to humans through contact with pigeon droppings or unwashed raw fruit. Contact with an infected individual may also spread the infection. Individuals with disorders characterized by lowered immunity (for instance, HIV infection) are at high risk for contracting these infections.", "symptoms": "The pulmonary forms of this disease include acute infections and chronic pulmonary infections.  The disseminated forms include central nervous system (brain) infections, cutaneous (skin) infections, and infections involving other organs or systems.", "causes": "Cryptococcosis is caused by the fungus Cyptococcus neoformans.  It is spread by contact with pigeon droppings, unwashed raw fruit or by infected individuals.  People with immune deficiencies or lowered immunity (such as people undergoing cancer chemotherapy or organ transplants or those infected with HIV-AIDS) are at high risk for contracting this fungal infection.", "affected": "Cryptococcosis occurs worldwide.  In the United States it occurs predominately in the Southeastern states and usually in adults aged forty to sixty years of age.  It tends to occur more often in males than females. Individuals with disorders involving reduced or impaired immunity to infection are particularly at risk.", "related-disorders": "Meningitis is a possible complication of cryptococcosis.  Meningitis is an inflammation of the membranes surrounding the brain and spinal cord.  There are many types of Meningitis, caused by many different infectious agents with the severity of infection ranging from mild to severe.", "diagnosis": "The diagnosis depends on proof of the presence of Cyptococcus neoformans in either a bodily fluid or body tissue. The presence of the fungus may be seen under a light microscope in some circumstances; other circumstances require growing the organism from samples of fluid taken from a patient. An immunological test designed to detect the substance that would be mobilized in the body to fight this fungus if it were present (antigen) is available in commercial kits.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:404473", "name_zh": "严重智力障碍-进行性痉挛性截瘫综合征", "Name": "Severe intellectual disability-progressive spastic diplegia syndrome", "disease_name": "CTNNB1 Syndrome", "synonyms": "CTNNB1 neurodevelopmental disorder (CTNNB1-NDD)", "disease-overview": "", "symptoms": "CTNNB1 syndrome is a collection of signs and symptoms that can vary between affected individuals. It is important to note that every individual is unique and how the disorder affects one person can be different from how it affects another.", "causes": "CTNNB1 syndrome is caused by changes (pathogenic variants or mutations) in the CTNNB1 gene. Genes provide instructions for creating (encoding) proteins that play a critical role in many functions of the body. When a variation in a gene occurs, the protein that is created may be faulty, inefficient, absent or overproduced. Depending upon the functions of the protein, this can affect many parts of the body.", "affected": "CTNNB1 syndrome is believed to affect females and males in equal numbers. The exact number of people who have this disorder is unknown. According to CTNNB1 Connect & Cure, as of March 2023, there are 300 individuals around the world known to have CTNNB1 syndrome. Rare disorders like CTNNB1 syndrome often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. As molecular genetic testing becomes more widely used, it is estimated that approximately 3 individuals in every 100,000 births may be affected by CTNNB1 syndrome.", "related-disorders": "Clinical features of the following disorders can be similar to those of CTNNB1 syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of CTNNB1 syndrome is based on characteristic clinical features, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. No formal clinical diagnostic criteria have been established for CTNNB1 syndrome. A diagnosis can only be made through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:553", "name_zh": "库欣综合征", "Name": "Cushing Syndrome", "disease_name": "Cushing Syndrome", "synonyms": "hypercortisolism", "disease-overview": "", "symptoms": "People with Cushing syndrome gain an excessive amount of weight. Obesity extends to include fat deposits around the face causing a moon-shaped or rounded appearance. Fat also accumulates around the neck (supraclavicular) and upper back (dorsal cervical) areas. Obesity also occurs in the trunk of the body (centripetal obesity), but the arms and legs remain slender. People with Cushing syndrome may have skin that is reddened, thin, fragile and slow to heal. The connective tissue may also become weak, resulting in the appearance of reddish-blue stretch marks on the arms, breasts, underarms (axillae), abdomen, buttocks and/or thighs.", "causes": "Cushing syndrome is a rare endocrine disorder caused by abnormally excessive amounts of the hormone cortisol.", "affected": "Many cases of Cushing syndrome are due to exogenous corticosteroid medication. It is reported that the incidence of endogenous Cushing syndrome is approximately 13 per million people annually.", "related-disorders": "The following disorders can have symptoms similar to those of Cushing syndrome, even though people with these disorders do not have abnormally elevated cortisol levels. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Polycystic ovary syndrome (PCOS) is characterized by absent or irregular menstruation, excessive hair on the face and/or body (hirsutism), weight gain, acne, male pattern balding and impaired insulin action and diabetes mellitus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:171901", "name_zh": "原发性皮肤T细胞淋巴瘤", "Name": "Cutaneous T-Cell Lymphomas", "disease_name": "Cutaneous T-Cell Lymphomas", "synonyms": "CTCL", "disease-overview": "General Discussion", "symptoms": "The signs and symptoms associated with cutaneous T-cell lymphomas vary greatly from case to case, depending upon the specific type of lymphoma present and how far the disease has progressed (i.e., staging). (For further information on stages, please see the section entitled Standard Therapies: Diagnosis [Staging] below.)", "causes": "The exact underlying cause of cutaneous T-cell lymphomas is unknown. Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation [carcinogens]; certain viral infections; bacterial skin infections, etc.), diet, stress, and/or additional factors may play varying contributing roles in causing specific types of cancer. Investigators at the National Institutes of Health (NIH)/National Cancer Institute, across the United States, and around the world are conducting ongoing basic research to learn more about the many factors that may result in cancer. (The National Cancer Institute is listed in the Resources section of this report below.)", "affected": "According to the medical literature, CTCL affects males twice as often as females. In the majority of cases, diagnosis is made between 40 and 60 years of age. One study estimated that from .5 to 5 percent of all CTCLs occur in children. CTCLs occur twice as often in individuals of African-American descent as in individuals of European or Asian descent.", "related-disorders": "Symptoms of the following disorders can be similar to those of CTCL. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A variety of disorders are associated with CTCL, including small plaque parapsoriasis, large plaque parapsoriasis (poikiloderma atrophicans vasculare) and follicular (alopecia) mucinosa. Significant debate exists in the medical literature as to whether these disorders are distinct premalignant conditions or early forms of CTCL. Individuals with these disorders have a greater chance than the general population of developing CTCL later during life. Approximately 10-30 percent of cases of large plaque parapsoriasis progress to CTCL.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:209", "name_zh": "皮肤松弛症", "Name": "Cutis Laxa", "disease_name": "Cutis Laxa", "synonyms": "Elastolysis", "disease-overview": "", "symptoms": "Cutis laxa encompasses a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending upon the specific type of cutis laxa and the presence and extent of associated symptoms. The specific symptoms and severity can vary even among individuals with the same subtype and even among members of the same family. In addition, some subtypes of cutis laxa have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Despite the wide variety in presentation, most affected individuals develop the characteristic skin abnormalities and joints problems described above.", "causes": "Cutis laxa is caused by mutations in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. For disorders classified as cutis laxa, these mutations can be inherited in an autosomal recessive or autosomal dominant trait.", "affected": "Cutis laxa is a rare disorder that affects males and females in equal numbers. The disorder has been reported in approximately 400 families worldwide. Cutis laxa is estimated to affect 1 in 1,000,000 individuals in the general population. However, because cases may go misdiagnosed or undiagnosed determining the true frequency of cutis laxa in the general population is difficult. Cutis laxa affects individuals of all races and every ethnic group.", "related-disorders": "Symptoms of the following disorders can be similar to those of cutis laxa. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of cutis laxa is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Surgical removal and microscopic examination (biopsy) of affected skin can reveal characteristic changes in elastic fibers. Distinguishing between the specific genetic forms of cutis laxa can be difficult. Molecular genetic testing can confirm a diagnosis of an inherited form cutis laxa and establish the specific, underlying subtype in some cases. Molecular genetic testing can detect mutations in specific genes known to cause cutis laxa, but is available only as a diagnostic service at specialized laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1556", "name_zh": "先天性毛细血管扩张性大理石样皮肤", "Name": "Cutis marmorata telangiectatica congenita", "disease_name": "Cutis Marmorata Telangiectatica Congenita", "synonyms": "CMTC", "disease-overview": "Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital (present at birth)disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. As a result, the skin has a purple or blue marbled or fishnet appearance (cutis marmorata). In some affected individuals, ulcerations or congenital skin defects (aplasia cutis) can be present. The latter association can be part of Adams-Oliver syndrome. Additional associated abnormalities have been reported including pink or dark red, irregularly shaped patches of skin (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); and/or undergrowth (hypotrophy) of one leg. However, many if not all of those cases represent forms of Klippel-Trenaunay syndrome or related disorders, in particular Cowden’s disease. The most common association of true CMTC is with soft tissue (subcutaneous fat and muscle) hypoplasia. The disorder formerly known as macrocephaly-cutis marmoratatelangiectatica congenital (M-CMTC) is a distinct genetic disease and is now called macrocephaly-capillary malformation (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.", "symptoms": "The symptoms of CMTC are present at birth (congenital). Affected infants have discolored patches of skin caused by widened (dilated) surface blood vessels (livedoreticularistelangiectases). The affected areas of skin have a marbled or fishnet appearance (cutis marmorata). In most cases, skin abnormalities affect the arms and legs (limbs), although the trunk may also be involved. Facial involvement is very rare. The skin symptoms associated with classical CMTC improve with age and usually disappear completely around puberty. Atrophic patches may remain. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality. In an affected leg, the greater saphenous vein may be too wide. It is not yet known whether this will lead to venous insufficiency later in life.", "causes": "The exact cause of CMTC is not known. Most cases occur randomly, for no apparent reason (spontaneously). Researchers believe that the disease results from genetic mosaicism. One theory suggests that abnormal pericyte recruitment can cause skin capillaries to contract inappropriately. In a few rare cases, it has appeared that CMTC may occasionally run in families (familial cases).", "affected": "CMTC affects males and females in equal numbers and is present at birth (congenital). Fewer than 300 cases of CMTC have been reported in the medical literature. Since many cases of CMTC are mild and clear up without treatment, the disorder may be under-diagnosed making it difficult to determine the true frequency of CMTC in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of CMTC. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cutis marmorata is a transient skin disorder in which the skin has a bluish red marbling pattern when exposed to cold temperatures. This condition is found most often in infants but may also affect adults. When the skin is warmed the condition disappears. Cutis marmorata is very common in premature infants and usually disappears completely at two months of age. Cutis marmorata may occur in conjunction with other syndromes but is not diagnostic.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79319", "name_zh": "先天性糖基化障碍1b型", "Name": "Cyclic Vomiting Syndrome", "disease_name": "Cyclic Vomiting Syndrome", "synonyms": "adult cyclic vomiting syndrome", "disease-overview": "Cyclic vomiting syndrome (CVS) is an uncommon disorder affecting both children and adults and characterized by recurrent episodes of severe nausea and vomiting. An episode may last for a few hours to several days and is then followed by a period of time during which affected individuals are relatively free of severe nausea and vomiting. Some can experience milder symptoms between attacks. This alternating pattern of disease and disease-free periods distinguishes cyclic vomiting syndrome from other gastrointestinal disorders. For each person who suffers from this condition, the episodes are similar to each other. The associated nausea and vomiting can be severe enough to incapacitate the individual who may be unable to walk or talk and/or be bedridden. Additional symptoms often present during an episode including dizziness, paleness of the skin (pallor), lack of energy (listlessness) and, abdominal pain and headaches. Oftentimes, nausea is the most disturbing symptom, more so than vomiting. Some affected children outgrow these episodes as they get older but for many others, CVS transitions into migraine headache. Cyclic vomiting syndrome may affect children more often than adults. The exact causes of cyclic vomiting syndrome remains unknown in many people, but a cause or risk factors can be determined in many others.", "symptoms": "The hallmark of cyclic vomiting syndrome is recurrent episodes of severe nausea and vomiting. In children, these episodes usually last for several hours to a few days. In adults, episodes tend to occur less frequently, but can last longer, even over a week. These recurrent, characteristic episodes are quite similar within each individual, often beginning at the same time of day, with similar severity, duration and associated symptoms as in previous episodes. Episodes often occur in the early morning hours or upon awakening in the morning. Affected individuals may only experience episodes several times a year or as frequently as several times a month. On occasion, after years of cycling, episodes can coalesce together with daily nausea and vomiting between severe attacks such that there is no symptom-free period.", "causes": "Although nausea and vomiting are the main features of cyclic vomiting syndrome, researchers now believe that the primary system affected is the nervous system, including the brain and peripheral nerves. There are more nerve cells (neurons) in the abdomen than in the head, and symptoms of the disorder develop due to abnormalities in the normal interaction between neurons in the brain and in the gut (thus, brain-gut disorder).", "affected": "Cyclic vomiting syndrome affects females somewhat more often than males (55:45). It most commonly occurs in children between the ages of three and seven, although it can begin at any age, from early infancy through to old age (73 is the oldest reported). Because CVS it is sometimes not recognized or misdiagnosed as stomach flu, a correct diagnosis is often delayed for many years. Although CVS is found more often in children, it is being recognized with greater frequency in adults. The incidence of CVS is unknown, although it is not rare. Two studies in Scotland and Australia have suggested that as many as 2% of all Caucasian school-aged children suffer from CVS. However, researchers believe the disorder is underdiagnosed, making it difficult to estimate its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of cyclic vomiting syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of cyclic vomiting syndrome may be suspected based upon a thorough clinical evaluation with the identification of characteristic findings. Diagnostic criteria are currently based upon the consensus criteria of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition and the Rome IV Committee. The determination of CVS can only be made after other causes of recurrent vomiting have been ruled out. There is no test to prove the presence of cyclic vomiting syndrome, although the presence of urine ketosis early in an episode may be helpful. A variety of tests of may be used to rule out other causes of recurrent nausea and vomiting. In particular, it is important to rule out a physical/structural blockage of the intestines, including malrotation, with an upper gastrointestinal series of radiographs. Standard blood chemistries testing is important to detect abnormal levels of sodium and potassium (electrolytes) and well as pancreatitis (lipase).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:586", "name_zh": "囊性纤维化", "Name": "Cystic fibrosis", "disease_name": "Cystic Fibrosis", "synonyms": "CF", "disease-overview": "Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs) or externally (e.g., sweat glands). In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. The symptoms of cystic fibrosis can vary greatly in number and severity from one individual to another. Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result in poor growth and poor nutrition; and obstruction of the intestines. Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and over 50 percent of individuals with the disorder are adults. Cystic fibrosis is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited as an autosomal recessive trait.", "symptoms": "The symptoms of cystic fibrosis result because mucus secretions are abnormally thick and sticky, whereas normally they are thin and slippery and serve as a protective lubricant. Other secreted material such as saliva, sweat and digestive juices may also be affected. These abnormal secretions can clog up vital tubes, ducts and passageways throughout the body.", "causes": "Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This defective gene is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Cystic fibrosis is the most common, life-limiting recessive genetic disorder in Caucasians. Approximately 30,000 people have cystic fibrosis in the United States. One thousand new cases are diagnosed each year, with males and females affected in equal numbers. The disorder occurs predominately among Caucasians, occurring in approximately one of every 3,200 live Caucasian births compared to one in 3,900 live births of all Americans. Among African Americans, CF is manifest in about one in 15-17,000 live births. There is also a small but significant number of Americans of Asian descent who are affected by the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of cystic fibrosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of cystic fibrosis may be suspected based upon newborn screening, identification of characteristic symptoms (e.g., pulmonary disease, pancreatic insufficiency) or a positive family history. The standard diagnostic test for cystic fibrosis is the sweat test, a painless and simple procedure that measures the amount of salt in the sweat. Genetic testing can identify carriers of the defective gene. In May 2005, the U.S. Food and Drug Administration (FDA) approved the first DNA-based blood test to help detect cystic fibrosis. The Tag-It Cystic Fibrosis Kit directly analyzes human DNA to find genetic variations indicative of the disease. All 50 States have newborn screening for CF. In most states, immunoreactive trypsinogen (IRT) assays are performed on dried blood spots from newborns. Trypsinogen is synthesized in the pancreas and IRT levels are elevated in CF. Abnormal IRT results are followed up with sweat testing and/or molecular genetic (DNA-based) testing to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1560", "name_zh": "囊虫病", "Name": "Cysticercosis", "disease_name": "Cysticercosis", "synonyms": "neurocysticercosis (NCC)", "disease-overview": "", "symptoms": "Symptoms usually appear years after becoming infection with the eggs of the pork tapeworm (T. solium). Symptoms may last for many years if medical treatment is not received.", "causes": "Cysticercosis is an infection in both humans and pigs. Pigs acquire the infection through the ingestion of segments of the pork tapeworm (proglottids), infected human feces, or food contaminated by infected human feces. Following ingestions, the embryos hatch in the small intestine, get into the blood stream, and travel through the pig’s body to the brain, muscle, and/or other tissues. After three to eight weeks, a fluid filled cyst with an invaginated scolex (tissue cysticerci) develops in the tissue where the embryo travelled.", "affected": "Cysticercosis can affect anyone at any age and affects males and females in equal numbers. Cysticercosis is most seen in endemic regions (Central and South America, sub-Saharan Africa, and Asia (including China, southeast Asia, and India)), where 10 to 20 percent of individuals have evidence of the disease. Within these endemic regions, cysticercosis is most common in rural areas, where pigs roam freely and eat human feces, and where sanitary conditions are less than optimal. Cysticercosis can also be found in non-endemic regions, especially where there are high numbers of immigrants, or in people who have traveled to endemic regions and to countries where sanitation may be substandard and where the water supply may be unsafe. Individuals with no history of pork consumption or travel to endemic areas can also develop cysticercosis, via household contacts of people with an adult pork tapeworm infection (taeniasis).", "related-disorders": "Tapeworms can be acquired from various uncooked meats, including beef and fish, but only pork tapeworms appear to produce larvae capable of invading human muscle and forming cysts.", "diagnosis": "Cysticercosis should be suspected in individuals with seizures and/or symptoms of increased pressure in the brain (increased intracranial pressure). The diagnosis of cysticercosis is made based on the combination of characteristic signs and symptoms obtained via a detailed patient history, neuroimaging findings, and exposure to risk factors, such as living in an endemic region, household exposure to a carrier of the adult pork tapeworm infection (taeniasis), or a history of prolonged travel or residence in an endemic region. Neuroimaging studies should include computed tomography (CT), and magnetic resonance imaging (MRI). A special blood test that looks at the immune system (serologic testing with enzyme-linked immunotransfer blot) is recommended as a confirmatory test in people who are suspected of having neurocysticercosis. Very rarely, if the neuroimaging and serology are unable to make the diagnosis, a piece of the suspected infected brain tissue is taken (biopsy) and examined by a specialist (pathologist) to look for neurocysticercosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:213", "name_zh": "胱氨酸贮积症", "Name": "Cystinosis", "disease_name": "Cystinosis", "synonyms": "", "disease-overview": "", "symptoms": "At one time, nephropathic cystinosis was fatal at a very young age. However, improvements in kidney transplantation and the development of a medication known as cysteamine (which lowers the levels of cystine in the cells of the body) have transformed cystinosis from a fatal kidney disorder to a chronic, multisystem disorder with a life expectancy well into adulthood.", "causes": "All types of cystinosis are caused by disease-causing variants in the CTNS gene. The CTNS gene contains instructions for producing (encoding) a protein called cystinosin that is required to transport the amino acid cystine out of lysosomes and into the rest of a cell. Lysosomes break down (degrade) certain proteins into their component amino acids such as cystine. Cystine is then transported out of the lysosome by cystinosin. Deficient levels of functional cystinosin result in the accumulation of cystine in the lysosomes of various tissues and organs of the body, eventually damaging the affected organs. The accumulated cystine forms crystals in many cell types.", "affected": "Cystinosis affects males and females in equal numbers. The disorder is estimated to occur in 1 in 100,000-200,000 people in the general population. Cystinosis has been reported worldwide, in all ethnic groups. Cystinosis is the most common cause of renal Fanconi syndrome in children and accounts for approximately 5 percent of all childhood cases of kidney failure.", "related-disorders": "Many different disorders can cause renal Fanconi syndrome in children including Lowe syndrome, Wilson disease, tyrosinemia type I, galactosemia and glycogen storage diseases. Additional disorders that may have symptoms similar to those found in cystinosis include Bartter’s syndrome and diabetes insipidus. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of cystinosis is based upon identification of characteristic symptoms (e.g., symptoms of renal Fanconi syndrome), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A prompt diagnosis of cystinosis is critical to maximize the preventive and therapeutic benefits of cystine depleting medications.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:214", "name_zh": "胱氨酸尿症", "Name": "Cystinuria", "disease_name": "Cystinuria", "synonyms": "CSNU", "disease-overview": "Cystinuria is an inherited metabolic disorder characterized by excessive amounts of undissolved cystine in the urine, as well as three chemically similar amino acids: arginine, lysine, and ornithine. Excess cystine in the urine can lead to the formation of crystals and stones (calculi) in the kidney, bladder, and/or urinary tract (ureters). Some people with cystinuria do not form stones, while others frequently form stones.", "symptoms": "People with cystinuria excrete abnormally high levels of cystine in the urine. The level of cystine is so high that it remains undissolved in the urine. The amino acids lysine, arginine, and ornithine are also excreted in massive amounts by people with this disorder, but they dissolve more readily in the urine and are not associated with any particular symptoms.", "causes": "Cystinuria is caused by changes (mutations) in the SLC3A1 and SLC7A9 genes. These mutations result in the abnormal transport of cystine in the kidney and this leads to the symptoms of cystinuria.", "affected": "Cystinuria is an inherited metabolic disorder that affects males and females in equal numbers. Symptoms of this disorder typically begin between 10 and 30 years of age, although elevated cystine excretion may be found in infancy. The disorder occurs in approximately 1 in 7,000 to 1 in 10,000 people in the United States. The prevalence of cystinuria varies in different countries.", "related-disorders": "Symptoms of the following disorders can be similar to those of cystinuria. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Kidney stones are hard deposits of minerals and salts that form inside the kidneys. Kidney stones form when urine contains more crystal-forming substances such as calcium, oxalate and uric acid than the fluid in the urine can dilute. Signs and symptoms of kidney stones can include severe, sharp pain in the side and back, below the ribs; pain that radiates to the lower abdomen and groin; pain that comes in waves and fluctuates in intensity; and pain or burning sensation while urinating.", "therapies": "The primary objective of treatment for cystinuria is to reduce the cystine concentration in the urine. Consumption of large amounts of fluid both day and night maintains a high volume of urine and reduces cystine concentration in the urine. Making the urine more alkaline (alkalization) helps cystine to dissolve more readily in the urine and may also prevent the formation of stones. Drugs that may be prescribed to make the urine more alkaline include potassium citrate and acetazolamide. This treatment is accompanied by dietary salt and animal protein restriction."}
{"OrphaCode": "ORPHA:254905", "name_zh": "孤立性细胞色素C氧化酶缺乏症", "Name": "Cytochrome C Oxidase Deficiency", "disease_name": "Cytochrome C Oxidase Deficiency", "synonyms": "complex IV deficiency", "disease-overview": "Cytochrome C Oxidase deficiency is a very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome C oxidase (COX), or Complex IV, an essential enzyme that is active in the subcellular structures that help to regulate energy production (mitochondria). Deficiency of COX may be limited (localized) to the tissues of the skeletal muscles or may affect several tissues, such as the heart, kidney, liver, brain, and/or connective tissue (fibroblasts); in other cases, the COX deficiency may be generalized (systemic). Four distinct forms of Cytochrome C Oxidase deficiency have been identifed. The first form of this disorder is known as COX deficiency, benign infantile mitochondrial myopathy. Affected infants exhibit many of the same symptoms as those with the more severe infantile form of the disease; however, because the COX deficiency is limited (localized) to tissues of the skeletal muscles, they typically do not have heart or kidney dysfunction.", "symptoms": "Cytochrome C Oxidase (COX) deficiency is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme cytochrome C oxidase or Complex IV. Cytochrome C oxidase is an essential enzyme that is active in subcellular structures that help to regulate energy production (mitochondria). Four distinct forms of Cytochrome C Oxidase deficiency have been identified. The range and severity of symptoms varies greatly from case to case.", "causes": "Researchers believe that most cases of Cytochrome C Oxidase deficiency are inherited in an autosomal recessive pattern. (For example, research seems to indicate that COX deficiency French-Canadian type has a recessive mode of inheritance.) Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Cytochrome C Oxidase (COX) Deficiency is a very rare metabolic disorder that appears to affect males and females in equal numbers. The overall incidence rates of various forms of the disorder (i.e., infantile mitochondrial myopathic forms and Leigh’s disease) are unclear. However, COX deficiency French-Canadian type has been reported in the French-Canadian population of the Saguenay-Lac-Saint-Jean region of northeastern Quebec with an estimated incidence of 1 in 2,473 births.", "related-disorders": "Symptoms of the following disorders may be similar to those of Cytochrome C Oxidase deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "MELAS syndrome, one of a group of rare disorders known as mitochondrial encephalomyopathies, is characterized by recurring, stroke-like episodes in which there are sudden headaches followed by vomiting and seizures. Short stature, an accumulation of lactic acid in the blood (lactic acidosis), and muscular weakness on one side of the body (hemiparesis) are typically present. Visual symptoms may include impaired vision or blindness in one half of the visual field (hemianopsia) and/or blindness due to lesions in the area of the brain involved with vision (cortical blindness). MELAS syndrome is thought to be inherited due to abnormal changes in genetic material (mutation) found within mitochondria (mtDNA). (For more information on this disorder, choose MELAS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35062", "name_zh": "特发性播散性巨细胞病毒感染", "Name": "Cytomegalovirus Infection", "disease_name": "Cytomegalovirus Infection", "synonyms": "CMV", "disease-overview": "Cytomegalovirus infection (CMV) is a viral infection that rarely causes obvious illness. The virus that causes CMV is part of the herpes virus family and, like other herpes viruses, may become dormant for a period of time and then be reactivated. CMV affects young children mainly, but it is estimated that by age 30 in the United States, half of all adults are, or have been, infected. The virus can pass from an infected, pregnant mother to her child through the shared blood supply (umbilical cord).", "symptoms": "Most of those who are infected with CMV (children or adult) do not develop symptoms.  When symptoms are present, there may be a great range in the type and severity of symptoms experienced.  Among the 10 to 20% of infants who do have symptoms, they may range from such benign signs as the presence of CMV in the urine to dangerous conditions such as hemorrhagic anemia, liver damage and central nervous sytem (CNS) damage.", "causes": "Cytomegalovirus infection is caused by the human cytomegaloviruses (also known as salivary gland viruses). These are a subgroup of infective agents closely related to the herpes group of viruses.  Like other herpes viruses, they may remain latent for years in people.", "affected": "Cytomegalovirus infection has increased in the United States in recent years, possibly because of the increased use of daycare facilities.  Recent studies of the percent of children with CMV virus in daycare facilities compared to the percent of children with CMV who are cared for at home found that about 60% of the children in daycare facilities have CMV compared to only 20% of the children cared for at home.  If a woman is infected during pregnancy, fetal infections known as cytomegalic inclusion disease (CID) can occur.", "related-disorders": "The CMV virus is closely related to the herpes group of viruses.  (For more information on Cytomegalovirus Infection and other herpes viruses, use CMV and Herpes as your search terms in the Rare Disease Database.)", "diagnosis": "", "therapies": "CMV infections can be controlled by drug therapy but, as yet, cannot be cured. Two drugs that keep the infection from getting worse are ganciclovir and foscarnet. These are delivered intravenously, and treatment must continue over a long period of time. A tablet form of ganciclovir, approved for CMV infections of the eye, has become available."}
{"OrphaCode": "ORPHA:217", "name_zh": "孤立型丹迪-沃克畸形", "Name": "Dandy Walker Malformation", "disease_name": "Dandy Walker Malformation", "synonyms": "Dandy-Walker Cyst", "disease-overview": "Dandy-Walker malformation (DWM) is a brain malformation that occurs during embryonic development of the cerebellum and 4th ventricle. The cerebellum is the area of the brain that helps coordinate movement, and is also involved with cognition and behavior. The 4th ventricle is a space around the cerebellum that channels fluid from inside to around the outside of the brain. DWM is characterized by underdevelopment (small size and abnormal position) of the middle part of the cerebellum known as the cerebellar vermis, cystic enlargement of the 4th ventricle and enlargement of the base of the skull (posterior fossa). DWM is sometimes (20-80%) associated with hydrocephalus, in which blockage of the normal flow of spinal fluid leads to excessive amounts of fluid accumulating in and around the brain. This leads to abnormally high pressure within the skull and swelling of the head, and can lead to neurological impairment.", "symptoms": "The symptoms of Dandy Walker syndrome typically include developmental delay, low tone (hypotonia) or later high tone (spasticity), poor coordination and balance (ataxia), and sometimes enlarged head circumference and increased pressure within the skull due to hydrocephalus.  Mental retardation occurs in fewer than half, most often in those with severe hydrocephalus, chromosome abnormalities or other birth defects. Seizures occur in 15-30% of those affected.   Respiratory control centers in the brainstem are sometimes affected and can lead to respiratory failure, again most likely with severe hydrocephalus.  The age at diagnosis varies depending on the onset and severity of hydrocephalus, and presence of other birth defects or medical problems.", "causes": "DWM results from defects in early embryonic development of the cerebellum and surrounding structures.  A few patients have chromosome abnormalities including deletion of chromosome 3q24.3 (the location of the first DWM genes, known as ZIC1 and ZIC4), 6p25 or 13q32.2-q33.2, or duplication of 9p.  In the remainder, it is probably due to other more complex genetic and perhaps environmental factors (teratogens) as the recurrence risk in siblings less than 5%.  A few examples of affected siblings with isolated Dandy-Walker malformation have been reported, suggesting autosomal recessive or X-linked inheritance, but most of these are probably CVH and not typical DWM.  In these families, the recurrence risk is higher, up to 25%.  DWM may also occur as part of a genetic syndrome that includes multiple birth defects, such as the PHACES syndrome of facial hemangioma, heart and sternal defects and DWM.  Many other syndromes and chromosome abnormalities have been reported with DWM, but most of these appear to have CVH rather than typical DWM.", "affected": "The frequency of Dandy Walker malformation in the US is approximately 1 per 25,000 -35,000 live births and affects more females than males.", "related-disorders": "Symptoms of the following disorders can be similar to those of Dandy-Walker malformation.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hydrocephalus is a condition in which abnormally widened (dilated) cerebral spaces in the brain (ventricles) inhibit the normal flow of cerebrospinal fluid (CSF). The cerebrospinal fluid accumulates in the skull and puts pressure on the brain tissue. An enlarged head in infants and increased cerebrospinal fluid pressure are frequent findings but are not necessary for the diagnosis of hydrocephalus. There are several different forms of hydrocephalus: communicating hydrocephalus, non-communicating hydrocephalus or obstructive hydrocephalus, internal hydrocephalus, normal pressure hydrocephalus, and benign hydrocephalus.  (For more information on this disorder, choose hydrocephalus as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:34587", "name_zh": "LAMP2缺乏所致糖原贮积病", "Name": "Danon disease", "disease_name": "Danon Disease", "synonyms": "Antopol disease", "disease-overview": "Danon disease is a rare genetic disorder characterized by an X-linked dominant inheritance pattern, so males are more severely affected than females. Among boys, the key features are diseased heart muscle (cardiomyopathy), weakness of the body muscles (skeletal myopathy) and intellectual disability ranging from mild learning problems to overt intellectual disability. In many males, the disease progresses until a heart transplant is required or death occurs in the second to third decade of life. Females are also affected, although usually more mildly, and often onset is delayed until they reach adulthood. However, some females will progress to being considered for cardiac transplantation during their second decade of life, similar to what is observed in males. Other features include heart arrhythmias, which can lead to a need for medications or a pacemaker, and eye disease affecting the retina; the retinal disease does not always affect vision, especially early in the disease. Danon disease is not usually evident at birth unless blood tests are done in a suspected case (i.e., a son born to a mother known to have the disease).", "symptoms": "Symptoms of Danon disease vary from person to person and depend on gender. Boys usually show early signs of muscle problems (difficulty sitting or walking), and motor skills may be awkward or delayed. Intellectual disability is usually noticed by parents and/or teachers and can be quite mild. The development of heart disease can lead to further fatigue and shortness of breath. Visual complaints are also prevalent with serious color vision disturbances and near-complete loss of retinal pigment in some patients.", "causes": "Danon disease is caused by a change (mutation or variant) in a gene called LAMP2. To date, there are over 160 different variants in the LAMP2 gene identified in case reports and databases that could lead to Danon disease. Variants that lead to a complete absence of the LAMP2 protein have been shown to be most detrimental in terms of prognosis. Other variants that lead to a partial LAMP2 protein deficiency maybe less severe clinically.", "affected": "At present, it is thought that Danon disease can affect all ethnic populations. The prevalence of Danon disease is unknown but may be rising due to increased detection from wider availability of LAMP2 gene testing. Histories of affected patients at birth are usually normal. As discussed, males are more severely affected in this X-linked dominant disease.", "related-disorders": "Until recently, Danon disease and Pompe disease were thought to be closely related because in both conditions, skeletal and cardiac muscles are involved. Under the microscope, Danon disease shows many features (i.e., increased glycogen content), that are typical of Pompe disease. Two main features distinguish the two diseases: 1) the inheritance pattern in Pompe disease is autosomal recessive while that in Danon disease is X-linked dominant, and 2) the enzyme deficient in Pompe disease (acid maltase or acid alpha glucosidase) is present in normal amounts in Danon disease.", "diagnosis": "Because Danon disease is rare and unfamiliar to most physicians, diagnosis is difficult and takes substantial time. The diagnosis is suggested based on a family history compatible with X-linked dominant inheritance and symptoms in affected relatives (cardiomyopathy, skeletal myopathy, intellectual disability, Wolff-Parkinson White, etc.). Skeletal muscle biopsy is done in some males to determine the cause of muscle weakness. If, while examining the biopsy materials, glycogen buildup and/or empty spaces appear in the cells of the muscle tissue (vacuolization), Danon disease must be considered. This also holds true for the analysis of a heart biopsy. A muscle biopsy that yields evidence of glycogen build-up and empty spaces in the muscle cells are key signs and indications that a diagnosis of Danon disease is a high probability.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2962", "name_zh": "De Barsy综合征", "Name": "De Barsy syndrome", "disease_name": "De Barsy Syndrome", "synonyms": "autosomal recessive cutis laxa type 3 (ARCL3)", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about de Barsy syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Some cases of de Barsy syndrome are caused by mutations in either the PYCR1 or ALDH18A1 genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Some individuals with de Barsy syndrome do not have mutations in either of these genes suggesting that as-yet-unidentified genes cause the disorder.", "affected": "De Barsy syndrome affects males and females in equal numbers. Fewer than 50 cases have been reported in the medical literature. The exact incidence and prevalence of this disorder is unknown. Because cases may go misdiagnosed or undiagnosed, determining the true frequency of de Barsy syndrome in the general population is difficult. De Barsy syndrome is usually obvious at birth or early infancy.", "related-disorders": "Symptoms of the following disorders can be similar to those of de Barsy syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of de Barsy syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Surgical removal and microscopic examination (biopsy) of affected skin can reveal characteristic changes in elastic fibers. Distinguishing between the specific genetic forms of cutis laxa can be difficult. Molecular genetic testing can confirm a diagnosis of an inherited form cutis laxa and establish the specific, underlying subtype in some cases. Molecular genetic testing can detect mutations in specific genes known to cause cutis laxa, but is available only as a diagnostic service at specialized laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1569", "name_zh": "De Sanctis-Cacchione 综合征", "Name": "De Sanctis-Cacchione syndrome", "disease_name": "De Sanctis Cacchione Syndrome", "synonyms": "Xerodermic Idiocy", "disease-overview": "De Sanctis-Cacchione syndrome is an extremely rare disorder characterized by the skin and eye symptoms of xeroderma pigmentosum (XP) occurring in association with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensitivity), skin discolorations, and the possible development of several types of eye disorders and skin cancers. The most common neurological abnormalities associated with De Sanctis- Cacchione syndrome are low intelligence, an abnormally small head (microcephaly), the loss of ability to coordinate voluntary movement (ataxia), and/or absent (areflexia) or weakened (hyporeflexia) reflexes. De Sanctis-Cacchione syndrome is inherited as an autosomal recessive trait.", "symptoms": "In De Sanctis-Cacchione syndrome, the earliest symptoms are the skin abnormalities associated with xeroderma pigmentosum (XP) including excessive freckling and blistering occurring after exposure to ultraviolet light (photosensitivity). In some cases, pain and blistering may occur immediately after contact with sunlight. Acute sunburn and persistent redness or inflammation of the skin (erythema) are also early symptoms of De Sanctis-Cacchione syndrome. In most cases of XP, these symptoms may be apparent immediately after birth or by the age of three years. However, in some rare cases, symptoms may not be apparent until later in childhood. In most cases of De Sanctis-Cacchione syndrome, onset is often during infancy.", "causes": "The symptoms of De Sanctis-Cacchione syndrome occur because of the body’s inability to repair damage to the building blocks of genes (DNA). The damage is caused by exposure to ultraviolet light, such as rays of the sun. Everyone has certain connective tissue cells (fibroblasts) that have the ability to repair this damage through a complex process. However, the fibroblasts in people affected by De Sanctis-Cacchione syndrome lack the ability or have a reduced capacity to repair their DNA. In addition, some affected individuals’ cells cannot properly repair sunlight-damaged skin.", "affected": "De Sanctis-Cacchione syndrome is an extremely rare disorder that affects males and females in equal numbers. Although about 200 cases have been reported in Western medical literature, the exact number of cases of this disorder is not known. Onset of symptoms usually occurs during the first year of life, but in rare cases may appear during early or late childhood. Onset of some neurological symptoms may occur as late as five to 10 years of age or even in the second decade of life. De Sanctis-Cacchione syndrome was first described in the medical literature in 1932.", "related-disorders": "Symptoms of the following disorders can be similar to those of De Sanctis-Cacchione syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cockayne syndrome is a rare inherited disorder characterized by short stature; distinctive skin abnormalities; characteristic craniofacial malformations and a prematurely aged (progeric) appearance; eye abnormalities resulting in visual impairment; deafness; and/or mental retardation. In individuals with the disorder, eye abnormalities may include gradual deterioration of the nerves of the eyes (optic atrophy), progressive degeneration of the nerve-rich membrane lining the eyes (retinal degeneration), and/or abnormal clouding of the lenses of the eyes (cataracts). In addition, the skin may be abnormally sensitive to sunlight, resulting in scarring, a scaly rash, abnormal pigmentation, and degeneration (atrophy) of affected areas. Individuals with Cockayne syndrome may also have a prematurely aged appearance and characteristic facial abnormalities including a thin nose, sunken eyes, and/or a protruding lower jaw (prognathism). Affected individuals may also have additional physical abnormalities including unusually sparse hair and various skeletal malformations. Cockayne syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose Cockayne as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:656071", "name_zh": "", "Name": "Atrophic papulosis", "disease_name": "Degos Disease", "synonyms": "Degos-Kohlmeier disease", "disease-overview": "Degos disease is an extremely rare disorder, with only about 200 reported cases worldwide. In affected individuals, arteries of smaller diameter become blocked (occlusive arteriopathy), subsequently restricting the flow of blood to affected areas. Degos disease usually presents with characteristic skin lesions (porcelain-white macules) that may persist for several weeks or even years. Degos disease can occur at any age, with onset of symptoms typically between the age of 20 and 50. In most individuals, the symptoms of Degos disease are limited to the skin, termed benign cutaneous Degos disease. This form of the disease has an excellent prognosis.", "symptoms": "In most people, the initial sign of Degos disease is the development of skin lesions which evolve to a very distinct appearance (see below). Affected individuals develop small, elevated bumps or spots (papules) of varying shapes, typically appearing on the trunk, upper arms and upper legs. At onset, only a few lesions may be present, but over time, the skin often continues to develop lesions, so that ultimately hundreds may appear. The palms of the hands, soles of the feet and face are usually not affected so that lesions may not be apparent to others. Over a period of weeks to months, the lesions typically transition from reddish or pink bumps to flat or depressed porcelain-white lesions with a red rim.", "causes": "Degos disease is caused by multiplication of the cells lining small arteries, resulting in the narrowing or blocking of affected vessels termed arterial occlusion. Areas of severely damaged tissue (necrosis) may appear in locations where these affected arteries restrict blood flow, known as occlusive arteriopathy. The symptoms and severity of Degos disease depend upon the location of the blocked arteries and necrotic lesions (characterized by cell death in tissues).", "affected": "Since its recognition as a distinct clinical entity by Dr. Degos in 1942, well more than 200 cases of Degos disease have been reported in the medical literature; however, the exact incidence of the disorder is unknown. Many researchers believe that Degos disease is under-diagnosed, making it difficult to determine its true frequency in the general population. Degos disease can affect individuals of any age, with one case reporting an onset as early as 8 months old; however, symptoms most frequently appear between the ages of 20-50. Males have been affected more often than females, with a male predominance of 3:1. One study found that females developed the benign cutaneous form of Degos disease more often than males.", "related-disorders": "", "diagnosis": "Identification of the characteristic skin lesions is typically the first step in the diagnosis of Degos disease. Mature lesions have white centers and pink/red borders due to dilated blood vessels, and are primarily located on the chest, back and upper extremities. Biopsy of affected tissue reveals necrosis (tissue cell death due to lack of blood supply) and blockage of small arterioles. This microscopic examination of affected skin tissue reveals a wedge-shaped area of necrotic tissue, a distinctive change that is characteristic of Degos disease. No specific laboratory test can be used to aid in the diagnosis of Degos disease. Most lab tests return normal results, though anemia may manifest in certain individuals with the systemic form of the disease. Imaging (i.e., MRI, EEG, and EMG) may be used to identify affected areas of the brain and body with systemic Degos disease. Gastrointestinal lesions of Degos, when present, involve the outer (serosal) surface of the bowel, especially the small bowel. As with skin lesions, bowel lesions have a highly characteristic appearance and are best visualized by performance of laparoscopy (endoscopy and colonoscopy are much less sensitive methods to detect these lesions).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64748", "name_zh": "Dejerine-Sottas综合征", "Name": "Dejerine-Sottas syndrome", "disease_name": "Dejerine-Sottas Syndrome", "synonyms": "hereditary motor sensory neuropathy type III, HSMN type III", "disease-overview": "", "symptoms": "DSS often begins suddenly by age two. Tingling, prickling or burning sensations are usually the first symptoms. Muscle weakness is usually first noticed in the back of the leg. This then spreads to the front leg muscles. Children may have delayed motor milestones, including walking at preschool age or later. Some individuals may need to use a wheelchair by their teenage years. The hand and forearm muscles may become weak as the condition worsens. Individuals with DSS may have respiratory insufficiency, meaning they do not take in enough oxygen or breathe out enough carbon dioxide. Mild vision difficulties may also occur. Other symptoms include pain, loss of heat sensitivity, absence of reflexes, muscle loss (atrophy) of leg muscles, scoliosis (curving of the spine), and ataxia (loss of coordination and balance). Symptoms can vary among individuals diagnosed with DSS.", "causes": "DSS is caused by changes (mutations) in several different genes. Genes associated with DSS include MPZ, EGR2, PMP22, and PRX. Mutations in these genes can result in the continued loss of myelin (the protective sheath surrounding nerves) leading to muscle weakness and mobility problems. Not all genes associated with DSS have been identified. For about 45% of individuals diagnosed with DSS, the genetic cause of the condition has been determined. This may indicate that other genes not yet identified could also be associated with DSS.", "affected": "Dejerine-Sottas syndrome often begins by age two. This disorder is thought to affect males and females equally. It can affect people from all races and ethnicities.", "related-disorders": "Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy as well as sensory loss. Nerves in the feet, legs, and sometimes the hands are affected. (For more information, choose CMT as your search term in the Rare Disease Database.)", "diagnosis": "Diagnosis of DSS can be made through genetic testing or based on symptoms and disease severity. Criteria for a clinical diagnosis include:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99828", "name_zh": "登革热", "Name": "Dengue fever", "disease_name": "Dengue Fever", "synonyms": "dengue", "disease-overview": "", "symptoms": "Dengue has a wide clinical spectrum with some individuals showing no symptoms, while others show mild symptoms to severe symptoms. The incubation period is a period between being infected with the virus to appearance of the first symptoms and for dengue it lasts 3-10 days. Approximately 25% experience a self-limited febrile illness, accompanied by mild-to-moderate haematological and biochemical abnormalities. Clinically relevant complications develop in a small proportion of these patients, including a systemic vascular leak syndrome, coagulation abnormalities that can be associated with bleeding, and organ involvement, typically hepatic or neurological. However, although these severe complications are infrequent the spectrum of clinical manifestations is broad. The most important risk factor for severe dengue is a prior dengue infection. The risk of developing severe dengue is greatest after a secondary infection with a different infecting type of dengue virus.", "causes": "Transmission", "affected": "There is a high risk of contracting dengue throughout the tropics and subtropics and it is the leading cause of fever among travelers returning from Latin America, the Caribbean and Southeast Asia. Sporadic outbreaks with local transmission have also been seen in Florida, Hawaii and Texas along the border with Mexico. The geographic distribution of dengue is similar to that of malaria; however the risk for dengue is higher in urban and residential areas versus malaria which is found in rural areas.", "related-disorders": "Chikungunya", "diagnosis": "Dengue can be suspected in an individual showing the symptoms listed above and if they reside in or have traveled within the past 2 weeks to an endemic area. Early clinical presentation of dengue is similar to other viral infections such as Zika and Chikungunya; therefore laboratory tests are useful in such cases.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1652", "name_zh": "Dent病", "Name": "Dent disease", "disease_name": "Dent Disease", "synonyms": "", "disease-overview": "", "symptoms": "The specific symptoms and severity of Dent disease can vary dramatically, even among individuals within the same family. Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about these disorders is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorders prevent physicians from developing a complete picture of associated symptoms and prognosis.", "causes": "Dent disease type 1 is caused by a mutation in the CLCN5 gene; Dent disease type 2 is caused by mutations in the OCRL1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "The exact incidence and prevalence of Dent disease is unknown. Dent disease type 1 has been reported in approximately 250 families. Dent disease type 2 has been reported in approximately 25 individuals. Because some affected individuals go undiagnosed or misdiagnosed, determining these disorders’ true frequency in the general population is difficult. Dent disease is fully expressed in males only. Dent disease may be recognized during childhood, while other cases can remain undiagnosed well into adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of Dent disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Dent disease is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be suspected in individuals with high levels of low-molecular-weight proteins in the urine, excess levels of calcium in the urine and one of the following: nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease, or evidence of X-linked recessive inheritance.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99789", "name_zh": "牙本质发育异常1型", "Name": "Dentin dysplasia type I", "disease_name": "Dentin Dysplasia Type I", "synonyms": "Dentin Dysplasia, Radicular", "disease-overview": "Dentin dysplasia type I is an inherited disorder characterized by atypical development of the dentin of a person’s teeth. Dentin makes up most of the tooth and is the bone-like material under the enamel. It serves to contain the pulp of the tooth. The pulp is a soft tissue that is well supplied with blood vessels and nerves. This disorder is also known as radicular dentin dysplasia because the underdeveloped, abnormal pulp tissue is predominately in the roots of the teeth. The teeth lack pulp chambers or have half-moon shaped pulp chambers in short or abnormally shaped roots. The condition may affect juvenile as well as adult teeth and, since the roots are abnormally short, usually leads to the premature loss of teeth.  The color of the teeth is usually normal.", "symptoms": "Some people with dentin dysplasia type I have teeth with a bluish-brown shine.  In most instances, however, the teeth have normally colored enamel.  It is clear from X-ray photos that the tooth pulp chambers in the roots are unusually small, half-moon shaped or lacking altogether.  The roots are very short and may appear to be dark (radiolucent) on X-rays.", "causes": "Dentin dysplasia is inherited as an autosomal dominant trait.  The defective gene has not been identified or traced to a particular site on a particular chromosome.", "affected": "Dentin dysplasia type I appears to affect about 1 in 100,000 persons.  Males and females are apparently equally at risk.", "related-disorders": "Symptoms of the following disorders can be similar to dentin dysplasia type I.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Dentin dysplasia, type II, also known as coronal dentin dysplasia since it affects the crown of the tooth rather than the root, is another autosomal dominant hereditary disorder.  It is characterized by brownish-blue shiny baby teeth with reduced root canals and normal appearing permanent teeth.  (For more information on this disorder, choose Coronal Dentin Dysplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99791", "name_zh": "牙本质发育异常2型", "Name": "Dentin dysplasia type II", "disease_name": "Dentin Dysplasia Type II", "synonyms": "coronal dentin dysplasia", "disease-overview": "", "symptoms": "Dentin dysplasia type II is a dental abnormality characterized by abnormal development (dysplasia) of dentin. Within the interior of a tooth is pulp – a specialized tissue that contains nerves, blood vessels and lymphatic vessels. Pulp is surrounded by a hard dental tissue known as dentin, which forms the primary material of the tooth. The exposed region of the tooth above the gum (also known as the crown or coronal region) is covered by enamel, which is harder than dentin, while the root is covered by a bone-like rigid connective tissue known as cementum. Dentin protects the pulp chamber and provides support for enamel and cementum.", "causes": "Dentin dysplasia type II is caused by variants in the dentin sialophosphoprotein (DSPP) gene. This variant is inherited in an autosomal dominant pattern.", "affected": "Dentin dysplasia type II affects males and females in equal numbers. The exact incidence and prevalence of dentin dysplasia type II is unknown. It occurs more frequently than dentin dysplasia type I, which is estimated to affect 1 in 100,000 people in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of dentin dysplasia type II. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of coronal dentin dysplasia is made based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. X-rays may reveal abnormal coronal pulp formation, obliteration of the pulp chambers, pulp stones or thistle-shaped deformity of the pulp chamber.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:166265", "name_zh": "牙本质发育不全3型", "Name": "Dentinogenesis Imperfecta Type III", "disease_name": "Dentinogenesis Imperfecta Type III", "synonyms": "Brandywine Type Dentinogenesis Imperfecta", "disease-overview": "Dentinogenesis imperfecta type III (DGI-III) is one of five distinct, hereditary disorders of dentin development affecting the teeth. Dentin is the hard, bone-like material that makes up most of a tooth and lies under the enamel serving to protect the soft, pulp tissue. These heritable dentin disorders may affect only the teeth or may be associated with the condition known as osteogenesis imperfecta. Whether this association is present is a major criterion in the classification of dentinogenesis imperfecta into three types.", "symptoms": "Dentinogenesis imperfecta type III is characterized by rapid erosion of the crowns in baby and permanent teeth.  Dental pulp inside several teeth may be exposed.  This pulp may be opalescent, smooth, and amber colored.  Pulp chambers and root canals may appear very large on X-ray photos of baby teeth. Permanent teeth may have a reduction or even complete loss of the pulp chambers and root canals.  Carriers of the gene for this disorder may have teeth that appear normal.  However, upon examination their teeth have only an extremely thin ivory layer and an enlarged pulp chamber (shell teeth).  Pitting of the tooth enamel may occur in the permanent teeth of patients.", "causes": "Dentinogenesis imperfecta type III is inherited as an autosomal dominant trait.  The abnormal (mutated) gene has been tracked to a site on the long arm of chromosome 4 at band 21.3 (4q21.3).  Interestingly, this gene is thought to code for two major dentin proteins — dentin sialoprotein and dentin phosphoprotein.  Hence, the gene has been called DSPP for dentin sialophosphoprotein.", "affected": "Patients with dentinogenesis imperfecta type III are affected in a ratio of approximately 55 males to 45 females.  Symptoms begin as soon as baby teeth erupt.  It tends to run in families.  The disorder was first found to occur in people who lived in Brandywine, MD, but it can also affect persons of Ashkenazi Jewish heritage.", "related-disorders": "Symptoms of the following disorders can be similar to those of dentinogenesis imperfecta, type III.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Radicular dentin dysplasia is a genetic disorder characterized by abnormal formation of tooth ivory (dentin).  The teeth lack pulp chambers, or have half-moon shaped pulp chambers in short or abnormally shaped roots.  The color of the teeth is usually normal.  (For more information, choose Dentin Dysplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:220", "name_zh": "Denys-Drash综合征", "Name": "Denys-Drash syndrome", "disease_name": "Denys-Drash Syndrome", "synonyms": "DDS", "disease-overview": "Denys-Drash syndrome (DDS) is characterized by abnormal kidney function (congenital nephropathy), a cancerous tumor of the kidney called Wilms tumor, and disorders of sexual development in affected males. Most affected females have normal genitalia. DDS is a genetic disorder caused by mutations in the Wilms tumor suppressor gene, WT1.", "symptoms": "The initial symptoms of DDS may be similar to nephrotic syndrome and include edema, abdominal distention and recurrent infections, sometimes present at birth but more often developing between 1 and 2 years of age. Many affected children develop high blood pressure (hypertension). The kidney abnormality that results in abnormal kidney function is termed diffuse mesangial sclerosis and usually results in a progression to renal failure during the first three years of life.", "causes": "DDS is a genetic disorder caused by mutations in the Wilms tumor suppressor gene, WT1. The vast majority of the mutations occur in one of two areas of the gene located on chromosome 11, called exon 8 or exon 9. While mutations in a single copy of the WT1 gene are sufficient to produce nephropathy and disorders of sexual development, Wilms tumor results from mutations in both copies of the WT1 gene. The abnormal product of a single copy of mutant WT1 gene interferes with the function of the unaffected copy of the WT1 gene and changes its normal regulatory function. This is sufficient to produce nephropathy and disorders of sexual development. In contrast, Wilms tumor is a result of two independent events (two-hit hypothesis) that sequentially lead to loss of function of both copies of the WT1 gene. The first mutation in a single copy of the WT1 gene (first hit) leads to persistence of an undifferentiated tissue in the developing kidney, called mesenchyme. Subsequently, another mutation (second hit) in the second copy causes uncontrolled cell growth in the kidney and Wilms tumor formation.", "affected": "The prevalence of DDS is not known. Over 200 cases have been reported in the medical literature.", "related-disorders": "Signs of the following disorders can be similar to those of Denys-Drash syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "DDS is diagnosed by physical signs and symptoms, laboratory tests, imaging studies, and kidney biopsy to document diffuse mesangial sclerosis. Molecular genetic testing for the WT1 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36397", "name_zh": "痛性肥胖病", "Name": "Adiposis dolorosa", "disease_name": "Dercum Disease", "synonyms": "adiposis dolorosa", "disease-overview": "Dercum’s disease is a rare disorder characterized by multiple, painful growths of fatty tissue (lipomas). Fat tissue is known as loose connective tissue, hence Dercum’s disease is a loose connective tissue disease. The lipomas mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously) but also can be found deeper in the body coupled to muscle, tendons, ligaments or bone by connective tissue. Pain associated with Dercum’s disease can often be severe. Pain may be caused by lipomas pressing on nearby nerves or inflamed connective tissue, also called fascia, which is commonly associated with the lipomas. Dercum’s disease mainly occurs in adults and more women are affected than men. Some affected individuals may also experience weight gain, depression, lethargy, and/or confusion. The exact cause of Dercum’s disease is unknown.", "symptoms": "The characteristic finding of Dercum’s disease is the formation of multiple, painful growths consisting of fatty tissue (lipomas) that are found just below the surface of the skin but also deep. Lipomas in people with Dercum’s disease may be found in any part of the body, although they are rare in the head, neck, hands and feet. The trunk, upper arms and upper legs are most often affected. The lipomas can be the size of a pea or as large as a grape, plum or fist. Dercum’s disease may occur in one or more people in a family with familial multiple lipomatosis (FML Type), may occur due to angiolipomas which are known to be painful (angiolipoma type) or may occur as small diffuse (widespread) pea-sized or larger lipomas anywhere in subcutaneous fat tissue especially over the ribs and including around joints due to the presence of inflammation in the body from any cause (healing disorder type). Pain may vary from mild discomfort when a growth is pressed or touched to severe pain that is disproportionate to the physical findings; pain must be present for at least three months. Some affected individuals feel that all fat hurts. Pain can last for hours and may come and go or last continuously. In severe cases, pain may worsen with movement. Many people with Dercum’s disease describe exacerbations or flares of pain that may be accompanied by worsening of symptoms such as fatigue and brain fog. The exact reason for pain associated with Dercum’s disease is unknown but may occur because the lipomas press on nearby nerves or because the fascia is inflamed. The lipomas associated with Dercum’s disease have more connective tissue than non Dercum’s disease fat. Connective tissue (fascia) in fat has more pain sensors than muscle, for example, and when tight or inflamed, can cause pain as in fibromyalgia. Fibromyalgia is not uncommon in people with Dercum’s disease.", "causes": "The exact cause of Dercum’s disease is unknown. In most cases, Dercum’s disease appears to occur spontaneously for no apparent reason (sporadic), though causes of inflammation should be sought. One case reported the development of Dercum’s disease in a man after trauma (motor vehicle accident).", "affected": "Dercum’s disease affects females more often than males with medical publications citing the disease as 5-30 times more common in women. Dercum’s disease can affect individuals of any age with an average age of 34 years in one medical publication. Although an extremely rare occurrence, it has been reported in children. The prevalence of Dercum’s disease is unknown. The disorder is underdiagnosed, making it difficult to determine its true frequency in the general population. Dercum’s disease was first described in the medical literature in 1882 by an American neurologist named Francis Xavier Dercum.", "related-disorders": "Symptoms of the following disorders can be similar to those of Dercum’s disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Dercum’s disease is suspected based on a detailed patient history, a thorough clinical evaluation and identification of characteristic multiple lipomas. The distribution of the lipomas is important in distinguishing Dercum’s disease from the other disorders involving lipomas. Surgical removal and microscopic study (biopsy) of affected tissue confirms that these growths are lipomas.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1656", "name_zh": "疱疹样皮炎", "Name": "Dermatitis herpetiformis", "disease_name": "Dermatitis Herpetiformis", "synonyms": "Duhring-Brocq disease", "disease-overview": "", "symptoms": "This autoimmune disease may cause skin, oral and/or gastrointestinal manifestations related to gluten-sensitivity.", "causes": "The cause of DH appears to be complex, involving both genetic and environmental factors. The importance of gluten in the development of DH is supported by the observation that elimination of dietary gluten can result in remission of the lesions.", "affected": "DH most frequently occurs in individuals of northern European heritage. It is estimated that this disorder affects as many as 75.3 per 100,000 people in northern Europe.", "related-disorders": "The differential diagnosis of DH includes many itchy and blistering disorders such as:", "diagnosis": "In addition to recognizing the consistent clinical findings (see signs and symptoms), diagnosis of DH can be made by performing a skin biopsy for direct immunofluorescence microscopy (DIF). The characteristic finding that is necessary is the presence of antibody protein (IgA) deposits within the dermis. These antibody protein (IgA) deposits are not normally found in skin tissue. It has been reported that DIF is positive in DH 92% of the time.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:221", "name_zh": "皮肌炎", "Name": "Dermatomyositis", "disease_name": "Dermatomyositis", "synonyms": "ADM", "disease-overview": "", "symptoms": "In those with dermatomyositis, the onset of symptoms may be gradual (insidious) or sudden (acute). The symptoms often wax and wane for no apparent reason.", "causes": "The specific underlying cause(s) of dermatomyositis remain unknown. However, evidence suggests that genetic, immune, and environmental factors play some role. Underlying genetic and immune mechanisms may be suggested by various findings, including an increased frequency of certain genetically determined HLAs or human leukocyte antigens in individuals with the disorder. HLAs are proteins that play an important role in the body’s immune system, influence the outcome of transplantation, and appear to affect an individual’s predisposition to certain diseases. Evidence suggests that certain HLAs have an increased frequency in children and adults with dermatomyositis. However, the specific implications of such findings are not fully understood.", "affected": "Dermatomyositis may occur at any time from infancy through approximately age 80, but most commonly it occurs between ages 40 to 60. The estimated incidence of dermatomyositis is 9.63 cases per million people. In children, the symptoms usually appear between the ages of five to 15 years. Approximately three in 1,000,000 children are affected by juvenile dermatomyositis. Females are affected by dermatomyositis twice as often as males.", "related-disorders": "Symptoms of the following disorders may be similar to those of dermatomyositis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Polymyositis is a type of inflammatory myopathy characterized by inflammatory and degenerative changes in the muscles, leading to symmetric weakness and some degree of muscle wasting (atrophy). The areas principally affected include the muscles closest to and within the trunk of the body such as the hip, shoulders, arms, pharynx and neck. Polymyositis occurs most often in women over 20 years of age, but men can also be affected. Muscle weakness usually happens over days, weeks or months. Some affected people have muscle pain, breathing problems, and trouble swallowing. (For more information, choose polymyositis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:873", "name_zh": "韧带样纤维瘤", "Name": "Desmoid tumor", "disease_name": "Desmoid Tumor", "synonyms": "aggressive fibromatosis", "disease-overview": "", "symptoms": "While each child or adult may experience symptoms differently, the following are the most common symptoms of desmoid tumors. The symptoms vary greatly depending on size and location:", "causes": "The cause of the desmoid tumor is not known. Desmoid tumors may occur sporadically or may be part of a disease called familial adenomatous polyposis (FAP).", "affected": "Desmoid tumors constitute 0.03% of all tumors. The estimated incidence in the general population is 2-4 per million people per year. Desmoid tumors are observed to be more common in persons aged 10-40 years but can occur in other age groups. Desmoid tumors can commonly occur in women after childbirth. The female: male gender ratio is 2:1. In children, the incidence is the same in males and females.", "related-disorders": "Gardner’s syndrome is a genetic disorder characterized by multiple colonic polyps and tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The multiple colon polyps predispose to development of colon cancer. Gardner’s syndrome is caused by variants in the APC gene and is recognized as a type of FAP. If one parent has Gardner’s syndrome, each of their male or female children are at 50% risk of inheriting the APC gene and developing Gardner’s syndrome.", "diagnosis": "The conclusive diagnosis of desmoid tumor requires a biopsy. Microscopic examination of the biopsy tissue confirms the diagnosis. On microscopic examination, the spindle cells of desmoid tumors appear to be myofibroblasts and are thought to be an abnormal proliferation of myofibroblasts, which normally gradually disappear during the later stages of wound healing. Additionally, immunohistochemical stains can establish the nuclear accumulation of beta-catenin, a protein that is caused by the genetic mutations usually found in desmoid tumors. Nuclear reactivity shows relatively high specificity, detected in up to 90% of desmoids, regardless of site. Finally, antibodies are often examined in desmoid tumors, including smooth muscle actin, desmin and KIT, to aid in distinguishing them from other tumors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98861", "name_zh": "原发性纤毛运动障碍Kartagener型", "Name": "Dextrocardia with Situs Inversus", "disease_name": "Dextrocardia with Situs Inversus", "synonyms": "Mirror-Image Dextrocardia", "disease-overview": "Dextrocardia with Situs Inversus is a rare heart condition characterized by abnormal positioning of the heart. In this condition, the tip of the heart (apex) is positioned on the right side of the chest. Additionally, the position of the heart chambers as well as the visceral organs such as the liver and spleen is reversed (situs inversus). However, most affected individuals can live a normal life without associated symptoms or disability.", "symptoms": "Electrocardiography reveals an inversion of the electrical waves from the heart and is the diagnostic measure of choice.", "causes": "Dextrocardia with Situs Inversus, a rare condition that is present at birth, is transmitted by autosomal recessive genes.  The primitive loop in the  embryo moves into the reverse direction of its normal position during fetal  development, causing displacement of organs.", "affected": "Dextrocardia with Situs Inversus is present at birth.  The condition affects males and females in equal numbers.", "related-disorders": "Dextroversion of the heart means that the location of the heart is abnormally positioned in the right half of the chest.  The left ventricle remains on the left, but lies in front of the right ventricle.  The heart is rotated to the right.  The waves representing the heart beat on the electrocardiogram will indicate an abnormality.", "diagnosis": "", "therapies": "Treatment of Dextrocardia with Situs Inversus is symptomatic and supportive when needed. In most cases, affected individuals can live a normal life without any symptoms or discomfort. If the condition is associated with other more serious heart malformations, the prognosis and treatment will vary. Genetic counseling may be helpful for affected families."}
{"OrphaCode": "ORPHA:916", "name_zh": "Aase-Smith综合征", "Name": "Aase-Smith syndrome", "disease_name": "Diamond Blackfan Anemia", "synonyms": "Aase-Smith II Syndrome", "disease-overview": "Diamond Blackfan anemia (DBA) is a rare blood disorder that affects the bone marrow. The function of the bone marrow is to make new blood cells, including red blood cells (which carry oxygen to the body’s tissues), white blood cells (which help the body fight infections), and platelets (which help the body stop bleeding). In DBA the bone marrow cannot make enough red blood cells to meet the body’s needs. DBA is characterized by a shortage of red blood cells which usually becomes evident during the first year of life when the patient develops anemia. About half of the affected patients have abnormal physical abnormalities associated with DBA. The symptoms and physical findings associated with DBA vary greatly from person to person.", "symptoms": "Diamond Blackfan anemia is characterized by moderate to severe deficiency of red blood cells (anemia). Sometimes white blood cells and platelets may be lower as well. Symptoms of anemia include rapid heartbeat, pale skin, sleepiness, irritability, poor appetite, and weakness. Approximately ninety percent of affected patients are diagnosed within the first year of life. The diagnosis is generally made by 3-4 months of age.", "causes": "Diamond Blackfan anemia is caused by changes (mutations) in ribosomal protein genes in about 80-85% of those affected. In the remaining 10-15% of patients, no abnormal genes have yet been identified.", "affected": "Diamond Blackfan anemia affects approximately 5 to 7 people per million live births per year. Thus in the United States, with 4 million livebirths per year, there are approximately 25-35 new patients born per year. There are several approximately 5000 cases world-wide. There are an equal number of males and females with the disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of DBA. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The average age of presenting with anemia is two months and the average age of diagnosis with DBA is 3-4 months. Some tests that aid in diagnosing DBA are:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1653", "name_zh": "牙本质发育异常", "Name": "Dentin dysplasia", "disease_name": "Diastrophic Dysplasia", "synonyms": "DD", "disease-overview": "Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas of the body; progressive abnormal curvature of the spine (scoliosis and/or kyphosis); abnormal tissue changes of the outer, visible portions of the ears (pinnae); and/or, in some cases, malformations of the head and facial (craniofacial) area.", "symptoms": "The symptoms and physical findings associated with diastrophic dysplasia may be extremely variable, differing in range and severity even among affected family members (kindreds).  However, in all individuals with the disorder, there is abnormal development of bones and joints of the body (skeletal and joint dysplasia).", "causes": "Diastrophic dysplasia is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Diastrophic dysplasia affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of diastrophic dysplasia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some families with a previous history of diastrophic dysplasia, it is possible that the disorder may be detected before birth (prenatally) during early pregnancy (e.g., first trimester) based upon the results of specialized genetic (i.e., DNA marker) testing. In addition, in some cases, the disorder may be detected during mid pregnancy (e.g., second trimester) through fetal ultrasonography, a specialized imaging technique in which sound waves are used to create an image of the developing fetus. In such cases, diagnosis is most easily established when a clear family history is present. During fetal ultrasonography, a diagnosis of diastrophic dysplasia may be considered due to detection of certain characteristic findings, such as marked shortening of bones of the fingers (phalanges), arms, and legs; abnormal deviation (abduction) of the thumbs (hitchhiker thumbs) and great toes; severe deformities of both feet (talipes or clubfeet); and/or other findings.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1672", "name_zh": "间脑综合征", "Name": "Diencephalic syndrome", "disease_name": "Diencephalic Syndrome", "synonyms": "diencephalic syndrome of childhood", "disease-overview": "Diencephalic syndrome is a rare disorder caused by a tumor that is usually located in the diencephalon, a portion of the brain just above the brainstem. The diencephalon includes the hypothalamus and the thalamus. Affected infants and young children may develop symptoms that include the failure to gain weight and grow as would be expected based upon age and gender (failure to thrive) and abnormal progressive thinness and weakness (emaciation). Affected infants and children may behave in an alert, happy and outgoing manner, which contrasts with their physical appearance. However, more frequently, infants and young children are irritable. Additional symptoms such as vomiting, vision abnormalities, nystagmus, headaches and pallor can also develop. Diencephalic syndrome can progress to cause severe, life-threatening complications. Diencephalic syndrome is treated by surgery, radiation, chemotherapy and/or molecular-targeted therapy. The reason for the development of the tumor that causes diencephalic syndrome is unknown. Diencephalic syndrome was first described in the medical literature in 1951 by Dr. Russell.", "symptoms": "The specific symptoms and severity of diencephalic syndrome can vary from one person to another. The disorder can potentially cause severe, even life-threatening complications. Onset is usually in infancy or early childhood. Usually, there is a period of normal development and weight gain, followed by a prolonged period of failure to gain weight and weight loss.", "causes": "Diencephalic syndrome is caused by a tumor, most commonly located in the hypothalamus or the optic chiasm. The hypothalamus is a special area in the brain that is divided into several regions that have different functions. The hypothalamus controls the pituitary gland by controlling the gland’s release of certain hormones. The hypothalamus also helps regulate basic functions of the body including sleep, hunger, thirst and body temperature. The optic chiasm is the region where the optic nerves pass through to the brain.", "affected": "Diencephalic syndrome is an extremely rare disorder that affects both males and females. The incidence and prevalence of this disorder in the general population is unknown. The disorder is most often seen in infants or young children but has also been reported in older children and adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of diencephalic syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of diencephalic syndrome is suspected in a child who has failed to thrive despite eating an apparently normal diet. A history of relatively normal development followed by a period of weight loss and lack of clear-cut stomach or intestinal problems is suggestive of diencephalic syndrome. A detailed patient history, a thorough clinical evaluation and a variety of specialized imaging techniques are used to establish a diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71274", "name_zh": "播散性腹膜平滑肌瘤病", "Name": "Disseminated peritoneal leiomyomatosis", "disease_name": "Diffuse Pulmonary Lymphangiomatosis", "synonyms": "DPL", "disease-overview": "", "symptoms": "The symptoms and severity of DPL are variable and there is no typical or standard presentation for the disorder. Generally, pulmonary lymphangiomatosis progresses faster in children than adults. Some individuals may eventually experience life-threatening complications, while others have mild symptoms that can go undiagnosed well until adulthood. Consequently, it is important to note that one person’s experience can vary dramatically from another’s. Affected individuals and parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The exact cause of diffuse pulmonary lymphangiomatosis is unknown. Lymphangiomatosis in general is believed to result from abnormalities in the development of the lymphatic vascular system during embryonic growth. No environmental, immunological or genetic risk factors that may play a role in the development of the disorder have been identified.", "affected": "Diffuse pulmonary lymphangiomatosis affects males and females in equal numbers. Most cases have been reported in infants and children, but the disorder has occurred in adults as well. The disorder has been reported in individuals of every race and ethnicity. The exact incidence or prevalence is unknown. The disorder often goes misdiagnosed or undiagnosed, making it difficult to determine true frequency of diffuse pulmonary lymphangiomatosis in the general population.", "related-disorders": "Symptoms of the following disorders can be like those of diffuse pulmonary lymphangiomatosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of diffuse pulmonary lymphangiomatosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Because of the disorder’s rarity and varying presentation, obtaining a correct diagnosis can be challenging.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1676", "name_zh": "特发性肺动脉扩张", "Name": "Dilatation of the Pulmonary Artery, Idiopathic", "disease_name": "Dilatation of the Pulmonary Artery, Idiopathic", "synonyms": "IDPA", "disease-overview": "Idiopathic dilatation of the pulmonary artery (IDPA) is a rare congenital defect characterized by a wider than normal main pulmonary artery in the absence of any apparent anatomical or physiological cause.", "symptoms": "Idiopathic dilatation of the pulmonary artery commonly does not produce symptoms because there is no circulatory abnormality.  Clinical signs are minimal, and usually consist of a palpable pulmonary ejection sound that disappears when the patient inhales, a soft pulmonary ejection systolic murmur (abnormal heart sound), and splitting of the second sound on breathing in.  IDPA does not cause pulmonary valve disease, nor does bacterial endocarditis occur in patients with this condition.  The electrocardiogram is normal, and diagnosis is made when chest X-rays reveal a dilated pulmonary artery without cardiac chamber enlargement.", "causes": "The cause of idiopathic dilatation of the pulmonary artery is unknown.  A defect in the normal development of pulmonary artery elastic tissue before or after birth has been postulated.  The dilatation may also be a consequence of a generalized connective tissue disease as it is occasionally found in Marfan’s syndrome or Ehlers-Danlos syndrome.  (For more information on these disorders, choose Marfan and Ehlers-Danlos as your search terms in the Rare Disease Database.", "affected": "The incidence and prevalence of IDPA are not known.  Because the disorder is benign in most instances, neither clinicians nor epidemiologists are able to measure the distribution of the disease with confidence.", "related-disorders": "", "diagnosis": "", "therapies": "Treatment for idiopathic dilatation of the pulmonary artery is not required. People with this condition have a normal life expectancy, provided they have no cardiac lesions."}
{"OrphaCode": "ORPHA:599", "name_zh": "远端型肌病", "Name": "Distal myopathy", "disease_name": "Distal Myopathy", "synonyms": "Distal Muscular Dystrophy", "disease-overview": "Distal myopathy (or distal muscular dystrophy) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles. The distal muscles are those farther from the center of the body and include the muscles of the lower arms and legs and the hands and feet. Conversely, the proximal muscles are the muscles closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Although age of onset can occur anytime from infancy to adulthood, most forms develop later in life and are slowly progressive. Inheritance is autosomal dominant or recessive.", "symptoms": "The severity, specific symptoms, and progression of the distal myopathies vary greatly, even among members of the same family. Slowly progressive weakness and degeneration of the voluntary distal muscles characterizes these disorders. In some cases, additional muscles including various proximal muscles may become involved.", "causes": "The distal myopathies are inherited as either autosomal dominant or recessive traits. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Since no distal myopathy has been linked to the X-chromosome, distal myopathies affect males and females in equal numbers. The exact incidence of the distal myopathies is unknown. Some forms have been identified with greater frequency in certain populations. Udd distal myopathy occurs with greater frequency in Finland where the prevalence is estimated to be 7 in 100,000 individuals. Welander distal myopathy occurs with greater frequency in Sweden where the prevalence is estimated to be 1 in 1,000 individuals. Approximately 220 cases of IBM2 have been identified in the medical literature. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of distal myopathies. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of distal myopathy is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of tests including a test that assesses the health of muscles and the nerves that control muscles (electromyography); specialized blood tests; magnetic resonance imaging (MRI) of muscle tissue; and surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:251", "name_zh": "多发性骨骺发育不良", "Name": "Multiple epiphyseal dysplasia", "disease_name": "Dominant Multiple Epiphyseal Dysplasia", "synonyms": "MED", "disease-overview": "", "symptoms": "The specific signs and symptoms of these disorders can vary from one person to another, even among those with the same subtype. Onset is usually in early childhood. Pain in the hips and knees following exercise is usually the initial sign of these disorders. Affected children may fatigue easily. Some affected children develop a waddling manner of walking (abnormal gait). Growth deficiency occurs in childhood and some children may be short for their age (mild to moderate short stature). Adult height is usually normal, but in the shorter range. An individual’s arms and legs may be short in comparison to the torso, which can become apparent during childhood. These growth features may be mild and difficult to appreciate.", "causes": "Dominant multiple epiphyseal dysplasia is caused by a mutation in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, many organ systems of the body can be affected.", "affected": "Dominant multiple epiphyseal dysplasia affects males and females in equal numbers. The exact incidence and prevalence is unknown, but multiple epiphyseal dysplasia, collectively, has been estimated to occur in approximately 1 in 20,000 people in the general population. Because some cases go undiagnosed or misdiagnosed, determining the true frequency these disorders in the general population is difficult. Dominant multiple epiphyseal dysplasia type 1 accounts for approximately 70% of cases. Gene alterations of MATN3 are seen in roughly 20% of molecularly diagnosed cases and alterations of the three different COL9 genes account for another 10%.", "related-disorders": "Symptoms of the following disorders can be similar to those of dominant multiple epiphyseal dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of dominant multiple epiphyseal dysplasia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The disorder may be suspected in individuals with joint pain, particularly in the hips and knees, skeletal malformation of the hands, feet and knees, and scoliosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79500", "name_zh": "DOORS综合征", "Name": "DOORS syndrome", "disease_name": "DOORS Syndrome", "synonyms": "DOOR syndrome", "disease-overview": "DOORS syndrome is a rare multisystem genetic disorder that is typically recognized shortly after birth. DOORS is an acronym for the abnormalities that characterize the disorder: (D)eafness (sensorineural hearing loss); (O)nychodystrophy (malformation of the nails); (O)steodystrophy (malformation of certain bones); intellectual disability (previously referred to as mental (R)etardation), and in many cases, affected infants may experience (S)eizures (sudden episodes of uncontrolled electrical activity in the brain). DOORS syndrome is inherited in an autosomal recessive pattern. Treatments are directed toward specific symptoms of affected individuals.", "symptoms": "DOORS syndrome is typically identified at birth by these symptoms: deafness, malformation of the fingernails and toenails (onychodystrophy) and defective formation of certain bones (osteodystrophy) of the fingers and toes. The syndrome may also be associated with seizure disorders.", "causes": "In most patients, DOORS syndrome is caused by harmful changes (variants) in the TBC1D24 gene. Some patients with DOORS syndrome have variants in the ATP6V1B2 gene.", "affected": "Approximately 50 cases of DOORS syndrome have been reported in the medical literature, most often diagnosed at birth. DOORS syndrome appears to affect males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of DOORS syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "DOORS syndrome is in a group of conditions called TBC1D24-related disorders. Other conditions in this group include familial infantile myoclonic epilepsy (FIME), progressive myoclonus epilepsy (PME), early infantile epileptic encephalopathy 16 (EIEE16), autosomal recessive nonsyndromic hearing loss, DFNB86 and autosomal dominant nonsyndromic hearing loss, DFNA65. These conditions have similar signs and symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:231", "name_zh": "龙线虫病", "Name": "Dracunculiasis", "disease_name": "Dracunculosis", "synonyms": "Dracontiasis", "disease-overview": "Dracunculosis is an infection caused by a parasitic worm known as Dracunculus medinensis, the guinea worm. Infected water fleas release the larvae of the worm into drinking water. Ingestion of contaminated water causes the larvae to migrate from the intestines via the abdominal cavity to the tissue under the skin. The larvae mature and release a toxic substance that makes the overlying skin ulcerate. After treatment, symptoms disappear and the worms can be safely removed from the skin.", "symptoms": "Dracunculosis is characterized by chronic skin ulcers.  Tissue under the skin is infiltrated by developing larvae of the parasitic worm known as Dracunculus medinensis, or Guinea worm.  A female worm ready to release larvae produces stinging elevated spots (papules), causing redness and itching of the skin.  These symptoms may be an allergic reaction to the parasite.  The spots form blisters and later rupture, developing into painful ulcers.  Multiple ulcers (usually on the legs) are common.  Without treatment, the worms are absorbed or protrude from the skin over a period of several weeks.", "causes": "The cause of dracunculosis is the consumption of water contaminated by the larvae of the parasitic worm Dracunculus medinensis, which live in an intermediate host in the water.  The larvae are released from the intermediate host while in the stomach, where they mate and grow.  This stage lasts for as long as a year.  The female apparently survives this process and may grow to three feet in length.  The symptoms and characteristic ulcers and infections occur when the female moves from the stomach or intestine to tissues under the skin.", "affected": "In 1986, there were approximately 3.2 million cases of dracunculosis worldwide.  However, due to the efforts of several national and international organizations in cooperation with local governments, the incidence of the disease has significantly decreased.  According to current estimates, there are now fewer than 100,000 cases of dracunculosis worldwide, with the remaining cases primarily occurring in Sudan and certain countries in West Africa, such as Nigeria and Niger.", "related-disorders": "", "diagnosis": "In individuals with dracunculosis, the condition is diagnosed based upon characteristic symptoms (e.g., fever, pain, and blistering and ulceration of the affected area) in association with the emergence of the adult worm through the individual's skin.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33069", "name_zh": "Dravet综合征", "Name": "Dravet syndrome", "disease_name": "Dravet Syndrome", "synonyms": "DS", "disease-overview": "Dravet syndrome (DS) is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by high body temperature (hyperthermia), developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems. DS is thought to be at the severe end of a spectrum of disorders associated with changes (mutations) in genes for the sodium ion channel. The sodium ion channel is a gated pore-like structure in the cell membrane that regulates the movement of sodium ions into and out of the cell, helping to propagate electrical signals along neurons. Sodium ion channels are critical components of any tissue requiring electrical signals including the brain and heart.  More than 80% of patients with Dravet syndrome have a mutation in the SCN1A gene (Rosander 2015), but not all SCN1A mutations lead to Dravet syndrome. DS is considered an epileptic encephalopathy, or disorder of the brain due to seizures. In addition, it is considered a channelopathy because the effects of the mutation on the sodium channel appear to contribute to the disorder independently of the seizures.", "symptoms": "The average age at seizure onset is 5.2 months, with a range of 1-18 months, but most often under 12 months (Cetica 2017, Wirrell 2017). The first seizure is often prolonged, either of the generalized tonic clonic or hemiclonic variation, and may or may not be associated with fever. Shorter seizures may also occur. Hyperthermia, or overheating, is a common seizure trigger in DS, and patients display heightened sensitivity to warm baths, fevers, exertion, and other forms of temperature elevation (Wirrell 2017).", "causes": "Dravet syndrome is associated with a mutation in the SCN1A gene in 80-90% of cases (Rosander 2015). Improved genetic testing including duplication, deletion, and mosaicism identification continues to increase this percentage (Djemie 2016). Missense (40%), nonsense (20%), frameshift (20%), duplications/deletions (7%), and splice site mutations (10%) have all been associated with Dravet syndrome. (A description of different types of gene mutations is available here:  https://ghr.nlm.nih.gov/primer/mutationsanddisorders/possiblemutations )", "affected": "Dravet syndrome affects an estimated 1:15,700 individuals in the U.S., or 0.0064% of the population (Wu 2015). Approximately 80-90% of those, or 1:20,900 individuals, have both an SCN1A mutation and a clinical diagnosis of DS. This represents an estimated 0.17% of all epilepsies.", "related-disorders": "Patients with Dravet syndrome may be misdiagnosed with myoclonic atonic epilepsy, Lennox-Gastaut syndrome, myoclonic epilepsy of infancy, genetic epilepsy with febrile seizures plus, atypical febrile seizures, and mitochondrial disorders. Additionally, some children may be diagnosed with focal epilepsy. Conversely, patients with myoclonic atonic epilepsy, myoclonic epilepsy of infancy, and PCDH19-associated epilepsy may be misdiagnosed with Dravet syndrome (Wirrell 2017). Close examination of the clinical history and characteristic progression of Dravet syndrome is important to make a differential diagnosis.", "diagnosis": "Dravet syndrome is a clinical diagnosis. Presentation is uniquely characteristic and, according to the 2017 consensus of North American neurologists with expertise in DS, includes:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:139402", "name_zh": "伴嗜酸性粒细胞增多症和全身症状的药疹", "Name": "Drug reaction with eosinophilia and systemic symptoms", "disease_name": "Drug Reaction with Eosinophilia and Systemic Symptoms (DReSS)", "synonyms": "DReSS syndrome", "disease-overview": "", "symptoms": "DReSS most commonly begins with a flu-like prodrome of malaise, sore throat, fever and swollen lymph nodes. The lag time between drug exposure and symptom onset is typically between 2-8 weeks (although longer and shorter times have been reported). Additionally, with re-exposure to the drug symptoms can develop in just hours or days.", "causes": "DReSS is a hypersensitivity reaction that results from a complex interaction between drug exposure, genetic predisposition and viral reactivation. Why some develop this condition while others do not, despite the same exposure, is thought to be a result of the cumulative effect of multiple risk factors.", "affected": "While DReSS does occur in children, it is predominantly seen in adults with a mean age of onset between 40 and 60 years old. Female patients tend to be significantly younger than their male counterparts, and while several studies have found a slight female predominance in DReSS, many more have not replicated this finding. There is significant association between ethnic background and DReSS, with an abundance of research showing HLA alleles being a strong risk factor with exposure to certain drugs. Specific ethnicities at risk include Han-Chinese, Korean, Thai and Europeans with allopurinol exposure, the Chinese with dapsone, and European, Chinese, Korean and Japanese groups with carbamazepine.", "related-disorders": "There are many conditions that mimic DReSS, including viral infections (EBV, SARS-CoV-2, CMV, and HIV), sepsis, toxic shock syndrome, Kawasaki’s Disease, Still’s disease, lymphoma, mycosis fungoides, hypereosinophilic syndromes, connective tissue diseases, hemophagocytic syndrome and angioimmunoblastic lymphadenopathy.", "diagnosis": "The diagnosis of DReSS is clinical. There are two sets of diagnostic criteria that currently exist: The RegiSCAR criteria (Kardaun et al. 2007) and The Japanese Consensus Group criteria (Shiohara et al. 2007). For the RegiSCAR criteria, a score of 5 or higher denotes probable DReSS. For the Japanese Consensus Group criteria all seven criteria are required for a diagnosis of typical DIHS.", "therapies": "The mainstay treatment of DReSS remains systemic steroids alongside identification and immediate withdrawal the culprit drug. All patients should be hospitalized, at least in the initial phase, to monitor for delayed systemic involvement and response to treatment. It should be clearly communicated to the patient that the causative drug needs to be avoided indefinitely. In non-serious DReSS with no systemic involvement or only stage I drug-induced liver injury or stage I kidney injury, high potency topical steroids alone may suffice. For DReSS with more severe organ involvement, oral prednisone at a dose ranging from 0.5-1 mg/kg/day is suggested with a gradual taper over 4-6 weeks, or longer. If a relapse occurs during steroid tapering, a more gradual taper is suggested or use of steroid-sparing agents. If control is not obtained with steroids, cyclosporine or alternative immunosuppressants, less evidence-based therapies such as intravenous immunoglobulin (IVIG), plasmapheresis or cyclophosphamide can be used. In cases of viral reactivation, anti-viral treatment is recommended."}
{"OrphaCode": "ORPHA:233", "name_zh": "眼球后退综合征", "Name": "Duane retraction syndrome", "disease_name": "Duane syndrome", "synonyms": "DR syndrome", "disease-overview": "Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation: a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction) or in both directions. When the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. In some patients, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot).", "symptoms": "The three types of Duane syndrome present as follows:", "causes": "Most Duane syndrome cases are sporadic in origin, with only approximately 10% of patients showing a familial pattern (running in families). Both dominant (most common) and recessive forms of DS have been documented. In some families with dominant DS, it has skipped a generation (shown reduced penetrance) and ranged in severity within the same family (shown variable expressivity). Most familial cases are not associated with other anomalies.", "affected": "Duane syndrome has been seen in diverse ethnic groups. The frequency of DS in the general population of individuals with eye movement disorders (strabismus) is approximately 1-5%. Most individuals are diagnosed by the age of 10 years. The female to male ratio of individuals with DS is approximately 60:40, showing a slightly higher preponderance of female patients.", "related-disorders": "Strabismus is a large category of eye movement disorders in which the eyes are not properly yoked together, and one or both eyes are misaligned and cannot be voluntarily controlled. Strabismus is either concomitant or incomitant. Concomitant strabismus occurs when the misalignment or the angle of deviation between the two eyes remains constant and independent of the direction of gaze. Strabismus is incomitant when the misalignment or the angle of deviation varies with gaze direction. Extraoccular (outside of the eye) fibrosis syndromes are grouped under incomitant strabismus and include Duane syndrome, Brown syndrome, and the congenital fibrosis of the extraocular muscles (CFEOM) syndromes. There are many cases of strabismus and treatments can include surgery and eye patching. Strabismus may be an isolated finding or found in association with other birth defects.", "diagnosis": "When the presence of DS is suspected, a thorough ocular (eye) examination is required, with special attention to the presence of other ocular or systemic malformations. Measurements of the ocular misalignment, ocular range of motion, head turn, globe (eyeball) retraction, palpebral fissure (eye opening) size, upshoots and downshoots and visual acuity are indicated. In addition, an examination of the cervical (neck) and thoracic (chest) spine, palate (roof of mouth), vertebrae, hands and a hearing test is recommended to rule out disorders associated with DS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:234", "name_zh": "Dubin-Johnson综合征", "Name": "Dubin-Johnson syndrome", "disease_name": "Dubin Johnson Syndrome", "synonyms": "chronic idiopathic jaundice", "disease-overview": "", "symptoms": "Approximately 80% to 99% of people with DJS have intermittent jaundice caused by excess bilirubin (bile pigment) that cannot be excreted normally. It builds up in the liver cells and then goes into the blood and is deposited in the eyes and skin. The same pigment can cause an abnormal urine color. The liver functions normally aside from the loss of an important transporter protein needed to move bilirubin out of the liver. Other less common symptoms include fatigue and fever. Rarely, bilirubin levels can become so high that organ damage is possible.", "causes": "DJS is caused by changes (disease-causing variants) in the ABCC2 gene. This gene codes for a protein called multidrug resistance protein 2 (MRP2). This protein moves substances out of the liver cells into the bile ducts. It is found mainly in the liver but is also present in the kidneys, intestine and placenta. The normal functioning protein works to secrete bilirubin into the bile, which is then transported to the gallbladder where it is stored. When the gall bladder is contracted during digestion, the bile is secreted into the intestine and then passes into the feces. Several different gene variants have been identified that alter the function of the carrier protein.", "affected": "DJS is a rare disease that affects males and females in equal numbers. Onset occurs slightly earlier in males than females. The disorder can occur in all races. Among Iranian, Iraqi and Moroccan Jews the incidence is as high as one in 1,300. In Japan, an unusually high incidence of DJS was found in an isolated area where there was a high rate of marriage between blood relatives (consanguinity).", "related-disorders": "Some features of the following disorders can be similar to those of Dubin Johnson syndrome and need to be considered in a patient prior to determining the diagnosis of DNS.", "diagnosis": "The presenting symptom in DJS is jaundice. The first test performed documents the presence of elevated blood levels of bilirubin and determines if it is direct (conjugated) or indirect, (unconjugated). In conjunction with this examination, the laboratory will look for other evidence of liver disease by measuring transaminases, proteins found within liver cells. Elevation implies that there is damage to the liver and rules out DJS. If transaminases are normal and bilirubin is elevated, a diagnosis for DJS is confirmed by examining an unusual feature of bilirubin degradation seen exclusively in DJS. In normal individuals coproprohyrin III is 3-4 times higher than coproporphyrin I in the urine. However, this ratio is reversed in DJS and an elevated ratio of coproporphyrin I to III is seen. The gene variants responsible for DJS in a patient or family can be determined through genetic testing. A test often employed to investigate other liver diseases, a liver biopsy, is very rarely indicated in a patient with DJS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:235", "name_zh": "dubowitz综合征", "Name": "Dubowitz Syndrome", "disease_name": "Dubowitz Syndrome", "synonyms": "Intrauterine Dwarfism", "disease-overview": "", "symptoms": "While there are some differences in the types and severity of symptoms that a person can have, people with Dubowitz syndrome share a few common symptoms. Almost everyone has short stature and slow growth. This can be seen before birth in an ultrasound. It can also be seen after birth. People usually have a small head (microcephaly), with a small jaw (micrognathia). They also have mild to moderate intellectual disability. People with Dubowitz syndrome have allergies and get infections easily. About half have eczema (rough, red, itchy patches of skin). The best way to diagnose Dubowitz syndrome is through the facial features. People have a narrow or triangle-shaped face with a high or sloping forehead. The bones around their eyes haven’t fully formed (hypoplastic supraorbital ridges) and their eyes are far apart (hypertelorism). They tend to have droopy eyes (ptosis) that make the eyes look wide and narrow (blepharophimosis). Their ears are large, not fully formed, and set low on their head. Affected individuals also tend to have sparse hair and eyebrows. The roof of their mouth tends to be higher than normal (arched palate), and they may have cleft lip/palate. Hearing problems have not been reported, but vision problems such as problems seeing things up close (farsightedness) and cataracts (clouding of the eye lens) have been reported.", "causes": "The cause of Dubowitz syndrome is not known. Some affected individuals have changes (mutations) in the NSUN4 and LIG4 genes, while others have had small additions or deletions of DNA (microduplications/ microdeletions).", "affected": "Males and females have an equal chance of developing Dubowitz syndrome. It can happen in people of all ethnicities and races. There are between 150 and 200 cases recorded in research articles, but researchers believe that there are more people with Dubowitz syndrome who have not been diagnosed.", "related-disorders": "Dubowitz syndrome is often confused with other genetic conditions because of similar symptoms. These other genetic conditions include Bloom syndrome, Fanconi anemia, and fetal alcohol syndrome. People with Bloom syndrome also have short stature, slow growth, frequently get infections, and are more likely to have cancers. The main difference between Bloom syndrome and Dubowitz syndrome is that the facial features of Dubowitz syndrome are not similar to the facial features of Bloom syndrome. Also, people with Bloom syndrome have red and purple patches on their skin caused by blood vessels.", "diagnosis": "There is a debate among researchers about whether Dubowitz syndrome is a true genetic condition because specific gene mutations or genetic differences that cause the condition have not been confirmed. Some researchers believe that Dubowitz syndrome is a group of symptoms that often appear together. This makes diagnosing Dubowitz syndrome somewhat tricky because geneticists can’t order a definitive genetic test. They can only diagnose someone based on the symptoms they show, and affected people show different types of symptoms. The main symptoms that geneticists look for are short stature, slow growth, small head, specific facial features, intellectual disabilities, and eczema.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98896", "name_zh": "杜氏肌营养不良症", "Name": "Duchenne muscular dystrophy", "disease_name": "Duchenne Muscular Dystrophy", "synonyms": "DMD", "disease-overview": "", "symptoms": "DMD usually becomes apparent early during childhood. Affected children develop weakness and wasting (atrophy) of the muscles closest to the trunk (proximal muscles) such as those of the upper legs and pelvic area and upper arms and shoulder area. However, a few other muscles appear disproportionally bulky. As the disease progresses, muscle weakness and atrophy spread to affect the lower legs, forearms, neck and trunk. The rate of progression is quite similar from person to person but individual variation may happen.", "causes": "DMD is caused by variants of the DMD gene located on the X chromosome. The DMD gene regulates (encodes for) the production of dystrophin, a protein that appears to play an essential role in maintaining the integrity of cell membrane in skeletal (voluntary) and cardiac muscle cells. Dystrophin is found attached to the inner side of the membrane that surrounds muscle fibers. Variants of the DMD gene will result in absence of the dystrophin protein, leading to degeneration of muscle fibers. The body can replace (regenerate) some muscle fibers, but over time more and more muscle fiber is lost. Such degeneration leads to the symptoms and findings associated with DMD. In Becker muscular dystrophy, a related disorder, dystrophin is present, but it is smaller than normal or only present in insufficient levels to function properly.", "affected": "DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The birth prevalence is estimated to be 1 in every 3,500 live male births. Age of onset is usually between 3 and 5 years of age. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of DMD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of DMD is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including molecular genetic tests. If the genetic tests are not informative, surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers. Specialized blood tests (e.g. creatine kinase) that evaluate the presence and levels of certain proteins in muscle (immunohistochemistry) are also used.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1203", "name_zh": "十二指肠闭锁", "Name": "Duodenal Atresia or Stenosis", "disease_name": "Duodenal Atresia or Stenosis", "synonyms": "Duodenal Atresia", "disease-overview": "Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait.", "symptoms": "Duodenal atresia and duodenal stenosis are abnormalities in which there is an absence or complete closure (atresia) in the first part of the small intestines (duodenum) or narrowing (stenosis) of the duodenum.  These obstructions in the digestive tract of infants prevent proper absorption of food.", "causes": "The majority of cases of duodenal atresia or stenosis occur for no apparent reason (sporadically).  There are two theories as to why the abnormalities may occur.  Blood vessel defects in the embryo may cause the absence or closure of the duodenum by decreasing the blood supply in the affected area, or there may be an overgrowth of cells in the duodenum that obstruct the channel of the first part of the duodenum (lumen) occuring during the sixth or seventh week of fetal development.", "affected": "Duodenal atresia or stenosis is a rare disorder that occurs in approximately 1 of 7,500 live births to 1 of 40,000 live births.  In Finland, the rate goes up to 1 case per 3,400 live births.  Males and females are affected in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of duodenal atresia or stenosis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Jejunal atresia is a birth defect in which there is a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen.  This abnormality causes a portion of the small intestine (the jejunal) to twist around one of the arteries of the colon. The appearance of this condition resembles a Christmas tree or apple peel when viewed by a surgeon.  Jejunal atresia may be inherited as an autosomal recessive genetic trait, or may occur sporadically with no known cause.  (For more information on this disorder, choose Jejunal Atresia as your search term in the Rare Disease Database.)", "therapies": "Duodenal atresia may be recognized through ultrasound by the presence of a double bubble which can be seen in the abdominal area. The earlier the disorder is recognized and surgery is performed, the better the outcome. Parenteral nutrition (food given through a vein or directly to the stomach, but not by mouth) may be needed for a period of time."}
{"OrphaCode": "ORPHA:238446", "name_zh": "15q11q13微重复综合征", "Name": "15q11q13 microduplication syndrome", "disease_name": "Dup15q Syndrome", "synonyms": "15q11.2-q13.1 duplication syndrome", "disease-overview": "", "symptoms": "Two individuals with similar dup15q chromosomes based on breakpoints (BP) may be very different in terms of their abilities. However, the following features are found to some degree in most individuals with dup15q syndrome.", "causes": "Dup15q syndrome is caused by presence of at least one extra maternally derived copy of the PWACR within chromosome 15q11.2-q13.1. The extra copy or copies most commonly arise by one of two mechanisms:", "affected": "The prevalence of dup15q in the general population is unknown but may be as high as 1:5000.  Dup15q is one of the most common chromosome (cytogenetic) anomalies in persons with ASD. In patients referred for clinical chromosomal microarray analysis (CMA) testing due to developmental concerns (developmental delay, intellectual disability, or ASD) or multiple congenital anomalies, the prevalence of dup15q is approximately 1:508. In ASD cohorts, the prevalence of dup15q is 1:253-1:522.  In intellectual disability cohorts, the prevalence of dup15q is 1:584.", "related-disorders": "Paternal interstitial duplications of 15q11.2-q13.1: Because this duplicated region is imprinted, the phenotypes resulting from paternal and maternal duplications differ: paternal interstitial duplications are associated with a more variable phenotype that includes sleep concerns such as parasomnia (abnormal or unusual behavior during sleep). Clinical findings, particularly autistic features, may be present in up to 50% of affected individuals [Urraca et al 2013]. Because there is some overlap in the phenotypic features of maternal and paternal duplications, parent-of-origin testing should be performed to determine whether a patient has dup15q syndrome or a paternal interstitial duplication.", "diagnosis": "The diagnosis of Ddup15q syndrome is established by detection of at least one extra maternally derived copy of the PWACR, a region approximately 5 Mb long within chromosome 15q11.2-q13.1.", "therapies": "To establish the extent of disease and needs in an individual diagnosed with dup15q syndrome a complete review of systems, a physical examination, assessments of possible feeding difficulties associated with hypotonia, neurologic examinations including assessment for seizure activity and baseline EEG and consultation with a clinical geneticist and/or genetic counselor are recommended.  A need for ongoing specialist care is frequent."}
{"OrphaCode": "ORPHA:239", "name_zh": "Dyggve-Melchior-Clausen综合征", "Name": "Dyggve Melchior Clausen syndrome", "disease_name": "Dyggve Melchior Clausen syndrome", "synonyms": "DMC disease", "disease-overview": "Dyggve-Melchior-Clausen syndrome (DMC) is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother’s paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, these authors believed that their affected patients had Morquio-Ullrich disease (now Morquio syndrome). Skeletal abnormalities in this condition may include a barrel-shaped chest with a short truck, partial dislocation of the hips, genu valgum (knocked knees) or varum (bowed legs), and decreased joint mobility. In 11% of patients, there is atlantoaxial (upper neck vertebrae) instability that can lead to spinal cord compression, weakness and paralysis (Kandziora et al. 2002). Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder (Aglan at et. 2009). DMC results from mutations in the DYM (dymeclin) gene and is inherited in an autosomal recessive mode.", "symptoms": "Affected newborns may be small at birth, but otherwise appear normal. With age, other characteristics develop. For instance, chest deformities, feeding difficulties and developmental delay usually are manifest by or before 18 months. Disproportionate short stature, with the arms and legs being disproportionately too long for the torso, typically is present after 18 months. Additional clinical features that may also develop include dolichocephaly (a long skull), microcephaly (a small head), coarse facial appearance, prognathism (a protruding lower jaw). Intellectual disability ranges from moderate to severe, and worsens with age (Dgyyve et al. 1977; Aglan et al. 2009. Microcephaly occurs in most individuals. Thinning of the corpus callosum has also been reported (Dupuis et al. 2015). The overall health of an affected person is generally good and survival into adulthood is usual.", "causes": "Dyggve-Melchior-Clausen syndrome is inherited as an autosomal recessive trait. Normally, autosomal genes come in pair with an individual receiving one gene of the paired genes from his or her father, and the other from the mother. Recessive genetic disorders occur when an individual inherits an abnormal or mutated gene for the same trait from each parent. In autosomal recessive conditions, if an individual receives one normal gene and one gene for the disease, the person is a carrier for the disease, but usually will not have any clinical manifestations of the condition. The risk for two carrier parents to both pass on their defective genes to an offspring, and therefore have an affected child, is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. And the chance for a child to receive two normal genes from his or her parents and be genetically normal for that particular trait is 25%. Many children with DMC and SMS are offspring of consanguineous parents with many reported patients being from Morocco or other Mediterranean countries (Aglan et al. 2009; Santos et al. 2009).", "affected": "DMC and SMS syndromes are rare genetic disorders. As of 2007 there were over 90 individuals with DMC or SMS reported in the literature (Lachman, 2007, p 934) who were from a number of different ethnic groups (El Ghouzzi et al. 2003; Pogue et al. 2005; Aglan et al. 2009).", "related-disorders": "Features in the following disorders can be similar to those found in DMC. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes, N-acetylgalactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in cells, cloudy corneas, deafness, abnormal skeletal development, and other features.  Most individuals with Morquio syndrome have normal intelligence. The clinical features of Morquio syndrome type B are usually fewer and milder than those associated with Morquio syndrome type A. Findings in both types may also include growth retardation, mildly course facial appearance, glaucoma, a prominent lower face, an abnormally short neck, pectus carinatum, kyphoscoliosis, platyspondyly, irregular epiphyses (ends of the long bones), broad metaphyses (segments underneath the epiphyses), genu valgum, and flat feet. In some patients, hearing loss, leg weakness, and/or additional abnormalities also occur. In contrast to Morquio syndrome, individuals with DMC have normal hearing and teeth, lack cloudy corneas and lack the urinary mucopolysaccharides, but do have intellectual disability. (For more information, choose Morquio syndrome as a search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:324", "name_zh": "法布里病", "Name": "Fabry disease", "disease_name": "Dysautonomia, Familial", "synonyms": "FD", "disease-overview": "Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions.", "symptoms": "An infant born with familial dysautonomia typically has poor sucking ability, impaired swallowing reflexes, poor muscle tone (hypotonia), and/or abnormally low body temperature (hypothermia). Infants with this disorder may have cold hands and feet and experience unstable body temperature (from 94 to 108 degrees) during the course of infectious diseases. Profuse sweating and drooling may also occur. Crying without tears is one of the most striking symptoms of familial dysautonomia. Sometimes a lack of tears and insensitivity of the eyes to pain from foreign objects (corneal anesthesia) can lead to inflammation of the corneas and ulcerations in the eyes.", "causes": "Familial dysautonomia is inherited as a recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.", "affected": "Familial dysautonomia is a rare genetic disorder that affects males and females in equal numbers. This disorder primarily affects infants of Ashkenazi Jewish or Eastern European ancestry; approximately 1 in 30 people of East European Jewish ancestry are thought to be carriers of the defective gene that causes this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of familial dysautonomia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Biemond congenital and familial analgesia is a genetic disorder characterized by symptoms that are similar to those of familial dysautonomia. The symptoms of this disorder include insensitivity to pain, a diminished sense of temperature and touch, and the absence of tendon reflexes.", "therapies": "Drugs used to relieve the symptoms of familial dysautonomia include diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes."}
{"OrphaCode": "ORPHA:1775", "name_zh": "先天性角化不良", "Name": "Dyskeratosis congenita", "disease_name": "Dyskeratosis Congenita", "synonyms": "DC", "disease-overview": "Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that patients with these skin changes almost always develop bone marrow failure. Thus, for the last 40 years or so, the bone marrow failure syndrome dyskeratosis congenita was diagnosed when patients presented with the triad of abnormal skin, malformation (dystrophy) of the nails, and white, thickened patches on the mucous membranes of the mouth (oral leukoplakia). The skin changes may be present before the development of bone marrow failure. Bone marrow failure is usually diagnosed by the low number of circulating blood cells including red blood cells, white blood cells, and platelets. Additional findings in patients with dyskeratosis congenita may include short stature, eye and tooth abnormalities, thin and early graying of the hair, lung (pulmonary) disease, liver disease, gut abnormalities, bone thinning (osteoporosis), infertility, learning difficulties, and delays in reaching developmental milestones. An increased incidence of leukemia and cancer has also been documented.", "symptoms": "The symptoms and onset of symptoms in patients with dyskeratosis congenita varies greatly depending on the gene mutated, the nature of the mutation, for how many generations the mutation has been inherited, and possibly other genetic and environmental factors. However, even among members of the same family the symptoms and onset may vary to some degree. In some families disease seems to become more severe and manifests earlier in life with subsequent generations. One of the characteristics is that, with the exception of the very severe forms (Hoyeraal-Hreidarsson and to some extent the Revesz syndrome), clinical symptoms are not present at birth, but develop during childhood, adolescence, and in some cases only late in life. In general, the earlier the disease becomes apparent, the more likely it is that the disease is severe and rapidly progressing. Likewise, the later in life clinical symptoms appear, the milder the form of disease and the slower the progression of disease. The exception to this is the risk of cancer and leukemia, which increases with age and is more common in patients with moderate to mild forms of disease. Patients with the classic form of dyskeratosis congenita are those who present with the originally described skin, nail and mouth abnormalities. In these patients the skin and nail abnormalities usually appear before 10 years of age and bone marrow failure by 20 years of age. In approximately 80-90 percent of patients with classic dyskeratosis congenita bone marrow failure occurs by age 30. In some cases, bone marrow failure appears before skin, nail or mucous membrane symptoms. Patients with the mild form of dyskeratosis congenita may have no apparent symptoms (asymptomatic) into their 30s or 40s and often present only with one of the clinical features associated with dyskeratosis congenita such as bone marrow failure, pulmonary fibrosis, liver fibrosis, or osteoporosis. Skin and nail changes, might be so mild that they are overlooked, or not noticed.", "causes": "To date six genes when mutated have been shown to be responsible for dyskeratosis congenita. However, mutations in these genes only account for about one half of patients with classical clinical manifestations of dyskeratosis congenita, suggesting that there are additional genes that when mutated cause dyskeratosis congenita.", "affected": "The prevalence or incidence of dyskeratosis congenita is difficult to assess. In a population of patients with bone marrow failure about 2-5% of patients have bone marrow failure due to dyskeratosis congenita. In patients with pulmonary fibrosis similarly 2-5% are thought to be due to mutations in TERC or TERT. In families with an increased frequency of bone marrow failure and/or lung disease, dyskeratosis congenita should be excluded as a possible cause of their disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of dyskeratosis congenita. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of dyskeratosis congenita may be suspected based upon a thorough clinical evaluation, detailed patient history, and identification of characteristic findings especially changes in the skin or mouth. In individuals who develop aplastic anemia as the first sign of the disorder or pulmonary fibrosis diagnosis is more difficult.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1822", "name_zh": "半肢畸形骨骺发育异常", "Name": "Dysplasia epiphysealis hemimelica", "disease_name": "Dysplasia Epiphysealis Hemimelica", "synonyms": "DEH", "disease-overview": "Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a developmental bone disease of childhood. It is very rare and clinical experience with this condition is limited. It is extremely rare in adults. Most cases are diagnosed before 8 years of age. It is characterized by a benign, abnormal growth of cartilage arising most frequently from the pre-existing cartilage of the distal ends (epiphysis)of the long bones. The joints of the lower limbs are most frequently affected including the ankle, knee, hip joints and the foot bones. The upper limbs are less frequently affected. The abnormal cartilage produces an irregular mass with varying degrees of deformities of the bone and adjacent joints. DEH may affect a single bone (localized form), multiple bones in a single limb (classical form) or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected children have the classic form. The lesions are usually located on the same side of the limbs, mostly medial, and this is called hemimelia. DEH was first described in the medical literature in 1926. Trevor recognized this condition in 1950. The name, dysplasia epiphysealis hemimelica first appeared in the medical literature in 1956.", "symptoms": "The symptoms present in each child with DEH vary depending on the location and size of the cartilage mass. The most common is a painless mass or swelling on one side of an affected joint, mostly the medial side. Associated pain occurs at the beginning or at a later stage of the disease.", "causes": "The cause of DEH is unknown. There is no evidence that hereditary factors play a role in the development of this disease. More research is necessary to determine the exact underlying cause(s) of this disorder. DEH is benign and there are no reports of malignant transformation of the cartilage abnormality.", "affected": "DEH usually affects children between the ages of 1 and 15. Males are affected more often than females. The incidence of DEH has been estimated at 1 in 1,000,000 individuals in the general population. However, some authors consider that the incidence is probably higher because some patients may be misdiagnosed with other conditions.", "related-disorders": "The following disorders can histologically resemble those of DEH:", "diagnosis": "The diagnosis of DEH is made based on the child’s history and the evaluation of imaging studies which include plain radiographs (X-rays), computed tomography (CT) and particularly magnetic resonance imaging (MRI). If possible, the expert knowledge of a pediatric or bone radiologist is very important for the diagnosis of this very rare disorder. In early childhood, as the disease consists mainly of growing cartilage, initial radiographs of the joint may appear normal or show minimal changes. As the child grows older, there is progression of the disease, and the abnormal cartilage mass undergoes bone formation (osteocartilaginous mass) and will be recognized by radiographs and CT. MRI is the best technique to demonstrate the uncalcified cartilaginous component of the lesion and the extent of epiphyseal and joint involvement. MRI can also establish the diagnosis of DEH at an early stage of the disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:156159", "name_zh": "孤立性肌张力障碍", "Name": "Dystonia", "disease_name": "Dystonia", "synonyms": "torsion dystonia", "disease-overview": "", "symptoms": "Early onset childhood dystonia (generalized dystonia) is a neurologic movement disorder that usually begins in childhood or adolescence. Symptoms start in one part of the body (usually an arm or leg) and may eventually spread to other parts of the body, causing contractions and spasms of muscles that twist the body into unnatural positions. The most frequent cases of hereditary form of dystonia are changes (pathogenic variants) in the TOR1A gene (especially in the Ashkenazy Jewish population), previously called DYT1-dystonia, and in the KMT2B gene (previously called DYT28 dystonia).", "causes": "In some people, dystonia occurs due to a known specific cause (acquired dystonia). Other cases are genetic and occur due to specific genetic variants. Other cases occur randomly for no apparent reason, without a family history of the disorder (sporadically). In many cases, the exact underlying cause of dystonia is unknown or unproven (idiopathic). Most likely, many cases of dystonia develop due to multiple factors including genetic and environmental ones.", "affected": "Dystonia can affect individuals of any age, gender, race, or ethnic background. It is estimated that as many as 300,000 people in North America may be affected by the various forms of dystonia. However, because many cases of dystonia go misdiagnosed or undiagnosed, determining the true frequency of dystonia in the general population is difficult. Focal forms of dystonia are approximately 10 times more common than generalized forms.", "related-disorders": "Symptoms of the following disorders can be similar to those of dystonia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pseudodystonia is a general term for a group of conditions that can resemble dystonia. Such conditions include dystonic tics; spinal abnormalities such as forward flexion or bending of the trunk and spine (camptocormia) and abnormal side-to-side curvature of the spine (scoliosis); partial dislocation of the shoulder (shoulder subluxation); Chiari malformations; soft tissues masses; congenital muscular torticollis (wryneck), in which the muscles that extend down the side of the neck are abnormally tight and short; Klippel-Feil syndrome, a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column within the neck (cervical vertebrae); Satoyoshi syndrome, a rare disorder characterized by progressive, painful muscle spasms; and Dupuytren’s contracture, a connective tissue disorder characterized by fixation of certain joints. In addition, various neuromuscular, orthopedic, and rheumatologic conditions can cause symptoms similar to those seen in dystonia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:40923", "name_zh": "Eales病", "Name": "Eales disease", "disease_name": "Eales Disease", "synonyms": "Eales Retinopathy", "disease-overview": "Eales Disease is a rare disorder of sight that appears as an inflammation and white haze around the outercoat of the veins in the retina. The disorder is most prevalent among young males and normally affects both eyes. Usually, vision is suddenly blurred because the clear jelly that fills the eyeball behind the lens of the eye seeps out (vitreous hemorrhaging).", "symptoms": "Eales Disease usually presents as blurred vision resulting from oozing of the clear jelly-like substance from behind the lens of the eye.  At the onset of the disorder, the small outer veins of the retina show sheathing (encapsulation or covering).  As the disease progresses, the inflammation around the veins in the retina extends further behind the lens.  Eales Disease may also be associated with peripheral retinal neovascularization which is the formation of new blood vessels on the outer part of the retina.", "causes": "The exact case of Eales Disease is not known.  This disorder seems to occur spontaneously because no precipitating factors such as injury, infection, or heredity appear to be involved.", "affected": "Eales Disease is a rare disorder that affect males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Eales Disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "", "therapies": "Treatment of Eales Disease is symptomatic and supportive. The surgical process of coagulating tissue with a laser beam (laser panretinal photocoagulation) may be used to eliminate the deficiency of blood in the retina caused by constriction of blood vessels and to slow down excessive formation of blood vessel tissue."}
{"OrphaCode": "ORPHA:79373", "name_zh": "外胚层发育不良综合征", "Name": "Ectodermal dysplasia syndrome", "disease_name": "Ectodermal Dysplasias", "synonyms": "ED", "disease-overview": "The ectodermal dysplasias (EDs) are a heterogeneous group of nearly 100 inherited disorders characterized by anomalies in at least two of the structures derived from the embryonic ectoderm, with at least one involving the skin appendages (hair, nails, sweat glands) or teeth. Other tissues derived from the primitive ectoderm that can be involved in EDs include the mammary glands, adrenal medulla, central nervous system, inner ear, retina, optic lens, pigment cells and branchial arch cartilages. Advances in molecular genetics and developmental biology have led to the identification of the causative genes and developmental pathways in at least 80 of the EDs.", "symptoms": "Each of the nearly 100 EDs has its own set of clinical signs and symptoms. Commonly, the conditions will have one or more of the following associated findings:", "causes": "The molecular causes of these diverse conditions involve many genes and multiple developmental pathways that are necessary for normal formation, structure and function of the ectodermal derivatives. This classification scheme does not include all disorders that affect two or more ectodermal derivatives. Genetic alterations of ED-associated genes that affect only one derivative of the ectoderm would be considered non-syndromic traits of the causative gene. Conditions already included as part of other classifications or groups of diseases (vesiculobullous disorders, palmoplantar keratodermas, etc.) are not included in the ED classification. Complex syndromes that have ED signs, but also major non-ED signs, such as trisomy 21, are also excluded from the ED classification scheme.", "affected": "ED’s have been reported from essentially all races, ethnic groups and geographic regions.", "related-disorders": "", "diagnosis": "", "therapies": "Treatment depends upon the specific disease manifestations in the affected individual, and is largely aimed at minimizing symptoms. For most of the ED’s, multidisciplinary management is required, with involvement of primary care physicians, geneticists, dermatologists, multiple dental specialists,  nutritionists, speech therapists, otolaryngologists, ophthalmologists, orthopedic surgeons and/or plastic surgeons."}
{"OrphaCode": "ORPHA:98249", "name_zh": "Ehlers-Danlos综合征", "Name": "Ehlers-Danlos syndrome", "disease_name": "Ehlers Danlos Syndrome", "synonyms": "EDS", "disease-overview": "", "symptoms": "Classical (cEDS)", "causes": "EDS can be inherited as a dominant or recessive genetic condition. Human traits are the product of the interaction between two genes. Genes are received in sets of two, one from the father and another from the mother.", "affected": "Signs and symptoms of EDS may become apparent during childhood. However, depending upon the form and severity, age of diagnosis varies widely. Reported estimates for the incidence of all EDS types range from 1/ 2,500 to 1/5,000 births. hEDS is estimated to affect 1/10,000-1/15,000. cEDS is estimated to affect 1/20,000-1/40,0000. Because those with mild joint and skin manifestations may not seek medical attention they remain undiagnosed and it is difficult to determine the true frequency of EDS mutations in the general population. hEDS, clEDS, and vEDS are most common subtypes. Other subtypes (kEDS, aEDS, and dEDS) are much less common. Only about 60 individuals with kEDS have been identified. Only about 30 patients with aEDS have been reported. Only about 12 patients of dEDS have been described. Some named variants of EDS (e.g. X type or dysfibronectinemic type) have only been identified and reported in single individuals within one affected family.", "related-disorders": "Several disorders closely mimic EDS in clinical presentation. The following is a non-exhaustive list of conditions that may be considered in the differential diagnosis of a patient’s presentation.", "diagnosis": "EDS is generally diagnosed based on patient history and clinical findings. Genetic testing can facilitate the diagnosis of some subtypes. Electron microscopic analysis of tissue samples can also sometimes reveal characteristic abnormalities in collagen structure seen in EDS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97214", "name_zh": "艾森曼格综合征", "Name": "Eisenmenger Syndrome", "disease_name": "Eisenmenger Syndrome", "synonyms": "Eisenmenger complex", "disease-overview": "General Discussion", "symptoms": "The specific symptoms of Eisenmenger syndrome vary greatly from person to person. Although the heart defect is present at birth, Eisenmenger syndrome with cyanosis often develops around puberty, but may develop earlier or later depending on the location and severity of the congenital heart defect. The symptoms and complications result from a combination of the effects of the heart defect, reduced oxygen in the blood and high pressures in the lungs.", "causes": "Specific genes that cause Eisenmenger syndrome have not been identified and the condition is not thought to be inherited.", "affected": "Eisenmenger syndrome appears to affect males and females in relatively equal numbers. Individuals with Down syndrome represent between 25-50% of the adult Eisenmenger population.", "related-disorders": "Eisenmenger syndrome belongs to a group of conditions called pulmonary arterial hypertension (PAH) and also includes idiopathic PAH, PAH related to connective tissue diseases etc. It is a rare, progressive disorder, characterized by pulmonary vascular disease and high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery), often for no apparent reason (idiopathic). The pulmonary arteries are the blood vessels that carry blood from the right side of the heart through the lungs. Symptoms of PAH include shortness of breath (dyspnea), especially during exercise, fatigue, chest pain, and fainting episodes. The exact cause of PAH is unknown and although it is treatable, there is no known cure for this condition. Idiopathic PAH usually affects women between the ages of 30-60 years. Individuals with PAH may remain undiagnosed for years because their symptoms are initially mild and nonspecific, resembling other conditions such as asthma. It is important to treat PAH as early as possible, to avoid heart failure. The progressive nature of this disease means that an individual may experience only mild symptoms at first, but will eventually require treatment and medical care to maintain a reasonable quality of life. PAH remains life threatening despite treatment.", "diagnosis": "The diagnosis of Eisenmenger syndrome is not particularly complex but may require cardiac catheterization, an invasive procedure to measure pressures in the heart and lungs. Other tests include pulse oximetry, which checks oxygen levels in the blood, chest x-ray, EKG, pulmonary function test, iron levels and complete blood count (CBC). Echocardiography is fundamental in identifying the heart defect and raising the suspicion of high pressures in the lungs. Other imaging modalities (e.g. cardiac MRI) can provide valuable anatomic information.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2035", "name_zh": "淋巴性丝虫病", "Name": "Elephantiasis", "disease_name": "Elephantiasis", "synonyms": "", "disease-overview": "Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results in the accumulation of a fluid called lymph in the affected areas.", "symptoms": "The initial symptom of lymphatic dysfunction is a mild edema, which can gradually progress to elephantiasis if not treated.", "causes": "Elephantiasis is caused by under-treatment of lymphedema, and due to the obstruction of the lymph vessels of the lymphatic system. As lymph moves through the lymphatic system, it is filtered by a network of small structures known as lymph nodes that help to remove microorganisms (e.g., viruses, bacteria, etc.) and other foreign bodies. Groups of lymph nodes are located throughout the body, including in the neck, under the arms (axillae), at the elbows, and in the chest, abdomen, and groin. In addition to the lymph nodes, the lymphatic system includes the spleen, which filters worn-out red blood cells and produces lymphocytes, and the tonsils, which are masses of lymphoid tissue in the throat region that help to fight infection. Lymphatic tissues also include the thymus, a relatively small organ behind the breastbone that is thought to play an important role in the immune system until puberty, as well as the bone marrow, which is the spongy tissue inside the cavities of bones that manufactures blood cells. Lymphatic tissue may also be located in other regions of the body, such as the skin, small intestine, liver, and other organs.", "affected": "Elephantiasis is present worldwide, but with greater frequency in poor third world regions,  including Southeast Asia, India, Africa and South America, and not only as a manifestation of lymphatic filariasis.", "related-disorders": "Symptoms of the following disorders can be similar to those of elephantiasis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of elephantiasis is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic symptoms. A variety of tests may be used to determine the underlying cause of lymphatic damage and subsequent elephantiasis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:289", "name_zh": "Ellis Van Creveld综合征", "Name": "Ellis Van Creveld syndrome", "disease_name": "Ellis-Van Creveld Syndrome", "synonyms": "chondroectodermal dysplasia", "disease-overview": "Ellis-Van Creveld syndrome is a rare genetic disorder that is mainly characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the patients, congenital heart defects. Nearly 50% of patients die by 18 months of age from cardiopulmonary complications. Motor development and intelligence are usually normal. This disorder is caused by variants in several different genes including the EVC1 and EVC2 genes and occasionally the DYNC2LI1, GLI1, WDR35, PRKACA, PRKACB and SMO genes. Inheritance is autosomal recessive. Treatment is symptom-specific and generally requires a team of medical professionals.", "symptoms": "Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Shortened length between the neck and abdomen and a narrow chest may occur. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Abnormal development (dysplasia) of fingernails, toenails, hair, teeth and inner lining of the mouth (oral mucosa) may occur.", "causes": "Ellis-Van Creveld syndrome is caused by disease-causing variants mainly in two genes called EVC1 and EVC2. These gene variants result in the production of abnormally small EVC1 and EVC2 proteins. While the exact function of these proteins is unclear, they are found on the cilia of the cell and ultimately assist in the proper development of body parts including bones and teeth. Some affected individuals do not have variants in these genes, and it is likely that variants in other genes (DYNC2LI1, GLI1, WDR35, PRKACA, PRKACB and SMO) also cause the condition. The DYNC2LI1 gene encodes a protein that assists in neurotransmitter release and provides architectural support for neurons. The GLI1 gene is a transcriptional regulator involved in the development of different types of cancer. The WDR35, PRKACA, PRKACB, and SMO genes provide instructions for making proteins that are involved in the formation and maintenance of cilia (microscopic, finger-like projections that stick out from the surface of cells).", "affected": "Ellis-Van Creveld syndrome occurs in many ethnic groups throughout the world and affects males and females equally. This condition has been reported in approximately 150 individuals. It is more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the native population of Western Australia.", "related-disorders": "Ellis Van-Creveld syndrome is part of a category of rare skeletal disorders called short rib-polydactyly syndromes, belonging to the ciliopathies group.", "diagnosis": "Ellis-Van-Creveld syndrome is diagnosed by the observation of short stature, slow growth, skeletal abnormalities and dental malformations determined by imaging techniques and sometimes teeth present at birth (natal teeth). Molecular genetic testing for the EVC1, EVC2, GLI1, DYNC2LI1, WDR35, PRKACA, PRKACB, and SMO genes is available on a research basis only. Prenatal diagnosis is possible by ultrasound.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:261", "name_zh": "Emery-Dreifuss肌营养不良", "Name": "Emery-Dreifuss muscular dystrophy", "disease_name": "Emery Dreifuss Muscular Dystrophy", "synonyms": "EDMD", "disease-overview": "", "symptoms": "The age of onset, severity, and progression of EDMD varies greatly from case to case, even among individuals of the same family. Some affected individuals may experience childhood onset with rapid disease progression and severe complications; others may experience adult onset and a slowly progressive course.", "causes": "In most cases, EDMD is inherited as an X-linked recessive trait. EDMD may also be inherited as an autosomal dominant trait. Autosomal recessive inheritance is extremely rare, but has been reported in at least one family. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "The overall prevalence of EDMD is unknown. The X-linked form is estimated to affect 1 in 100,000 people in the general population. EDMD is believed to be the third most common form of muscular dystrophy. X-linked EDMD is fully expressed in males only. Approximately 10-20 percent of female carriers for X-linked EDMD will develop heart conduction defects and/or muscle weakness. The autosomal dominant and recessive forms of EDMD affect males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of EDMD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of X-linked EDMD is based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms (contractures, myopathy, heart defects, etc.), surgical removal and microscopic study (biopsy) of affected tissue, and specialized tests such as immunodetection and molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1928", "name_zh": "先天性肺叶气肿", "Name": "Emphysema, Congenital Lobar", "disease_name": "Emphysema, Congenital Lobar", "synonyms": "CLE", "disease-overview": "Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases of congenital lobar emphysema may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).", "symptoms": "Congenital lobar emphysema is characterized by  (1) difficulty in breathing or very rapid respiration (respiratory distress) in infancy, (2) an enlarged chest due to overinflation of at least one lobe of the lung, (3) compressed normal lung tissue in the section of the lung nearest to the diseased lobe, (4) bluish color of the skin due to a lack of oxygen in the blood (cyanosis), and (5) underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia).", "causes": "Congenital lobar emphysema may result from unknown causes or it may be inherited.  Many cases are sporadic, (unknown causes) but others are transmitted by autosomal dominant genes.", "affected": "About 50% of cases occur in the first four weeks after birth.  About 75% of cases are found in infants less than six months of age.  This disorder is more common among boys than among girls.", "related-disorders": "Symptoms of the following disorders can be similar to those of Congenital Lobar Emphysema.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies.  A clear membrane is found lining the sack like spaces (alveolar) in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant).  The surfactant is a lipoprotein that stabilizes alveolar volume.  When this surfactant is missing the affected infant must be placed on some type of ventilator.  Recently new drugs have become available to aid the infant in breathing;  Surfactant TA and Human Surf.  (For more information on this disorder, choose Infant Respiratory Distress Syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91354", "name_zh": "空泡蝶鞍综合征所致垂体缺陷", "Name": "Empty Sella Syndrome", "disease_name": "Empty Sella Syndrome", "synonyms": "empty sella turcica", "disease-overview": "Empty sella syndrome is a rare disorder characterized by enlargement or malformation of a structure in the skull known as the sella turcica. The sella turcica is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone), in which resides the pituitary gland. In empty sella syndrome, the sella turcica is either partially filled with cerebrospinal fluid and a very small associated pituitary gland lying in the floor of the sella (partially empty sella) or completely filled with cerebrospinal fluid with no visualized pituitary gland (completely empty sella). Most individuals with empty sella syndrome do not have any associated symptoms, but the finding raises concerns about hormone deficiencies. Empty sella syndrome may occur as a primary disorder, for which the cause is unknown (idiopathic), or as a secondary disorder, in which it occurs due to an underlying condition or disorder such as a treated pituitary tumor, head trauma, or a condition known as idiopathic intracranial hypertension (also called pseudotumor cerebri) during which elevated intracranial pressure causes empty sella syndrome.", "symptoms": "The symptoms of empty sella syndrome may vary from one person to another and depends on the underlying cause. In most cases, especially in individuals with primary empty sella syndrome, there are no associated symptoms (asymptomatic). Often, empty sella syndrome is discovered incidentally on CT or MRI examination when individuals are being evaluated for other reasons.", "causes": "The exact, underlying cause of primary empty sella syndrome is unknown (idiopathic).", "affected": "Primary empty sella syndrome affects approximately 4 times more women than men. Most cases occur in middle-aged women who are obese and have high blood pressure (hypertension). Because most people with empty sella syndrome do not have symptoms and may go undiagnosed, determining the disorder’s true frequency in the general population is difficult. Some researchers have estimated that less than 1 percent of individuals with empty sella syndrome ultimately develop symptoms associated with the disorder, although this may be higher in men compared to women.", "related-disorders": "", "diagnosis": "A diagnosis of empty sella syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and specialized imaging techniques. Imaging may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs, tissues and structures such as the sella turcica.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1930", "name_zh": "单纯疱疹病毒性脑炎", "Name": "Encephalitis, Herpes Simple", "disease_name": "Encephalitis, Herpes Simple", "synonyms": "Herpes Encephalitis", "disease-overview": "Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simplex encephalitis. Herpes simplex encephalitis is caused by a virus known as herpes simplex virus (HSV).", "symptoms": "Symptoms associated with herpes simplex encephalitis usually develop over several days, often without warning. Early symptoms include headaches, fevers, and seizures. Additional symptoms include drowsiness with general weakness (stupor), and confusion or disorientation.", "causes": "Herpes simplex encephalitis is a complication of infection with the herpes simplex virus. In most cases, the disorder results from herpes simplex virus type I (HSV-I). In rare cases, usually in newborns (neonatals), the disorder is caused by herpes simplex virus type II (HSV-II).", "affected": "Herpes simplex encephalitis usually occurs during early childhood or adulthood. It affects males and females in equal numbers. The disorder is the most common form of acute encephalitis in the United States with approximately 2,000 cases occurring per year. It accounts for 10 percent of all cases of encephalitis in the United States per year.", "related-disorders": "Symptoms of the following disorders can be similar to those of herpes simplex encephalitis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Encephalitis is an inflammation of the brain. There are several different types of encephalitis that differ in cause, parts of the body affected, severity, and areas of the world where they occur. The symptoms of these disorders may also overlap with or resemble other infectious disorders. Symptoms common to all forms of encephalitis include fever, fatigue, drowsiness, and confusion. Causes of encephalitis include herpes simplex virus, varicella zoster virus, arboviruses, and enteroviruses. Encephalitis may also occur secondary to other disorders.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79139", "name_zh": "日本脑炎", "Name": "Encephalitis, Japanese", "disease_name": "Encephalitis, Japanese", "synonyms": "Japanese B Encephalitis", "disease-overview": "Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurological damage or death.", "symptoms": "Japanese Encephalitis is a rare viral disorder characterized by high fever, headaches, weakness, nausea, vomiting, mental deterioration, personality changes, psychoses, impaired speech, spastic rigidity, and paralysis of the face or extremities.", "causes": "Japanese Encephalitis is caused by the Japanese B Encephalitis Virus, an arbovirus (mediated via  insect bites), and transmitted through the bite of infected mosquitoes.  Symptoms occur as the virus directly invades the central nervous system causing selective infection, destruction of nerve cells, and weakening of the immune system.", "affected": "Japanese Encephalitis occurs in approximately 20,000 people each year. The disorder erupts in the form of epidemics usually during the summer months in India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, and northern Thailand. In tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka, the disease is present year-round and causes sporadic outbreaks. During the tropical rainy season, the illness can be transmitted in epidemic proportions.", "related-disorders": "Symptoms of the following disorders can be similar to those of Japanese Encephalitis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Murray Valley Encephalitis is also known as Australian X Disease and is characterized by severe brain inflammation.  The virus which causes this disorder is related to the Japanese B virus and is transmitted from mosquitoes to birds to other mosquitoes.  Cases among children tend to be most severe.  The first noticeable symptoms may be headache, fever, a general feeling of discomfort, drowsiness and/or convulsions, and a stiff neck. Extensive brain damage may result.", "therapies": "In Asian nations, vaccinations are available that prevent Japanese Encephalitis. American travelers to areas at risk can obtain the vaccination in the United States. High risk areas include India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, northern Thailand, tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka."}
{"OrphaCode": "ORPHA:199647", "name_zh": "孤立性脑膨出", "Name": "Encephalocele", "disease_name": "Encephalocele", "synonyms": "cephalocele", "disease-overview": "Encephaloceles are rare neurological birth defects characterized by sac-like protrusions of brain tissue, the membranes that cover the brain (meninges) and the clear, watery fluid within the tissues that surround the brain (cerebrospinal fluid) through openings in the skull. Encephaloceles are usually congenital (present from birth) and result from the incomplete closing of the neural tube, a structure during fetal development that folds and normally becomes the brain and spinal cord. In some cases, encephaloceles may be acquired from trauma, tumors or injury caused by medical treatment. Surgery is usually necessary to treat encephaloceles.", "symptoms": "The signs of an encephalocele depend on the location of the lesion. Some are present as a skin-covered mass near the midline in the head that is filled brain tissue and cerebrospinal fluid. Some encephaloceles protrude into spaces such as the nasal sinuses or the base of the skull and may not have external signs.", "causes": "The exact underlying cause of encephalocele is unknown but is likely linked to both genetic and environmental factors. Most cases occur sporadically because of neural tube defects. The neural tube typically folds and closes early during pregnancy (third or fourth week) to complete the formation of the brain and spinal cord. A neural tube defect occurs when the neural tube does not close completely, which can occur anywhere along the head, neck or spine. The lack of proper closing of the neural tube can lead to a herniation (movement of brain tissue, blood, and cerebrospinal fluid from its normal position in the brain) process which appears as a pedunculated (having a stalk-like base) or sessile (attached directly to its base without a stalk) cystic lesion protruding through a defect in the cranial vault referred as encephalocele.", "affected": "The Centers for Disease Control and Prevention (CDC) estimates that approximately 375 babies are born each year in the United States with an encephalocele. That would be approximately 1 in 10,000 babies each year. About 70% of encephaloceles are in females and 90% involve the midline. Additionally, females are more likely to have an encephalocele in the back (occipital area) of the skull, while males are more likely to have one in the front of the skull. In Western populations, encephaloceles are more common in the back of the skull. In Southeast Asia, they are more common in the front of the skull. Anterior encephaloceles are more common in Asia, Africa and Russia, with 1 case in 3,500 to 6,000 births.", "related-disorders": "Other related disorders include nasal glioma, cranial dermal sinus tract, nasal dermoid cyst, nasal epidermoid, dacryocystitis, dacryocystocele, hemangioma, nasal polyp, Dandy-Walker malformation and Chiari malformation.", "diagnosis": "Most encephaloceles are diagnosed on a routine prenatal ultrasound or seen right away when a baby is born. In some, small encephaloceles may initially go unnoticed but an individual will present symptoms that lead to diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2022", "name_zh": "心内膜弹力纤维增生症", "Name": "Endocardial fibroelastosis", "disease_name": "Endocardial Fibroelastosis", "synonyms": "EFE", "disease-overview": "Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles.", "symptoms": "The symptoms of endocardial fibroelastosis begin rapidly, generally between the ages of 4 and 12 months.  Symptoms are due to the overgrowth of fibrous tissue and thickening of the lining of the hearts’ chambers (i.e., endocardium and subendocardium), especially the left ventricle.  In some very rare cases of EFE, the left ventricle is small (hypoplastic) or of normal size and the right ventricle is enlarged.", "causes": "Some cases of endocardial fibroelastosis occur as a result of random changes (mutations), with no apparent cause (sporadic). These cases are known as endocardial fibroelastosis 1 (EFE1). Others cases are thought to be inherited as an X-linked recessive genetic trait.  These cases are known as endocardial fibroelastosis 2 (EFE2). In EFE1, neither the chromosome nor the precise location of the mutated gene on that chromosome have been determined.  In EFE2, the mutated gene is located on the X chromosome, but its precise location is not known.", "affected": "Endocardial fibroelastosis is a rare disorder that affects males and females in equal numbers.  Fewer than 1 percent of infants and children with congenital heart disease are diagnosed with this disorder.  A 1964 study suggested an incidence of 1 in 5,000 live births.  However, in the United States there has been a marked reduction in incidence since then for reasons that are not known.  The disorder is extremely rare.", "related-disorders": "Symptoms of the following disorders can be similar to those of Endocardial Fibroelastosis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Barth Syndrome, also known as Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria, is a rare inherited metabolic disorder.  Symptoms may include low levels of certain white blood cells (agranulocytopenia), muscle weakness, and/or abnormal enlargement of the heart (hypertrophic cardiomyopathy) leading to congestive heart failure.  Failure to thrive, growth delays, and/or recurring respiratory infections are common in children with Barth Syndrome.  Some affected infants also have Endocardial Fibroelastosis.  Barth Syndrome is inherited as an X-linked genetic trait.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:75565", "name_zh": "热带心内膜心肌纤维化", "Name": "Tropical endomyocardial fibrosis", "disease_name": "Endomyocardial Fibrosis", "synonyms": "Davies' disease", "disease-overview": "Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) of the right or left ventricular cavities. It may involve the valves between the chambers of the heart as well as the tendon-like cords that fix the valves to the ventricles (chordae tendineae).", "symptoms": "The main microscopic feature of endomyocardial fibrosis (as well as of Loeffler’s disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by a thick, inelastic tissue. The fibrotic lesions may be over 1 cm thick and may extend finger-like projections into the heart muscle (the myocardium).", "causes": "At this time, clinicians believe that an as yet unknown immunological process is the preferred explanation for the cause of most cases of endomyocardial fibrosis and Loeffler’s disease. In the past, the cause of both conditions was attributed to the presence of the filaria worm in patients or to poor nutrition. Widespread infection with such worms and poor diets are typical in the tropical regions in which these disorders are more common. Eosinophils have been observed in some cases of endomyocardial fibrosis, suggesting a form of hypersensitivity may play a role in select cases. In children, endomyocardial fibrosis has been associated with the mumps virus.", "affected": "Endomyocardial fibrosis is principally an endemic disease of the equatorial tropics. It is exceedingly rare in Europe and North America. It affects all races, mostly children and young adults. The disease has been described in a few patients over 60 years of age and, rarely, in patients younger than 5 years of age.", "related-disorders": "Amyloidosis is the term applied to a group of metabolic disorders characterized by the abnormal accumulation of a fibrous protein (amyloid) in various tissues of the body, including the heart. This can lead to impaired function of the affected organs. When amyloidosis affects the gastrointestinal system, symptoms may include ulceration, bleeding, weak stomach activity, protein loss, diarrhea, and/or vomiting. Amyloid accumulation may also cause a lack of movement in the esophagus and intestines. Amyloid accumulation in the heart may lead to heart failure symptoms including shortness of breath, swelling of the legs and ascites. (For more information on this disorder, choose Amyloidosis as your search term in the Rare Disease Database.)", "diagnosis": "Echocardiography is the primary tool used to diagnose suspected cases of endomyocardial fibrosis or Loeffler’s disease. A heart muscle biopsy is sometimes obtained to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:85438", "name_zh": "附着点炎症相关幼年特发性关节炎", "Name": "Enthesitis-related juvenile idiopathic arthritis", "disease_name": "Enthesitis-Related Juvenile Idiopathic Arthritis", "synonyms": "ERA", "disease-overview": "", "symptoms": "The symptoms of enthesitis-related juvenile idiopathic arthritis vary from person to person. Initial symptoms often include pain and stiffness in the joints of the lower body, especially knees, hips, ankles and feet. Joint pain, stiffness, and swelling are usually asymmetric (affecting each side of the body differently), and children can have trouble with walking as the joints of the lower body are commonly affected. While joint pain and stiffness may come and go initially, they can last for longer periods over time as the condition progresses. Pain and stiffness are often worse in the morning and can get better with movement. Enthesitis-related JIA is more likely to have pain and stiffness in the hips and midfoot area than other forms of JIA.", "causes": "The exact cause of enthesitis-related juvenile idiopathic arthritis is not known, but it is thought that both genetic and environmental factors contribute. One gene that is strongly linked with the condition is called HLA-B27. HLA genes make proteins that help the immune system differentiate between its own cells and other harmful organisms. The precise way that HLA-B27 leads to symptoms of arthritis is still being studied, but it may be related to abnormal activation of the immune system towards its own cells. Children with enthesitis-related JIA have an increased number of immune cells in their blood and in the fluid within their joint spaces. These immune cells release more inflammatory proteins which likely contribute to developing the disease. Additionally, abnormal interactions between the immune system and bacteria found in the gut may also contribute to development of the disease.", "affected": "Enthesitis-related juvenile idiopathic arthritis most commonly affects boys older than six years. It is also the most common type of JIA in children of Asian descent. Children who have relatives with enthesitis-related arthritis or other conditions associated with variants in the HLA-B27 gene, such as ankylosing spondylitis, reactive arthritis, inflammatory bowel disease or acute anterior uveitis, are also at increased risk.", "related-disorders": "Juvenile idiopathic arthritis (JIA) is defined as pain, swelling and/or limited range of motion of a joint starting before age 16 that lasts for at least six weeks and is not due to an identifiable cause. Enthesitis-related JIA can be differentiated from other types of JIA by unique signs and symptoms. These include asymmetric arthritis in the small joints of the lower body, enthesitis or pain at insertion sites of the ligaments and tendons on bone, acute uveitis (inflammation of the front portion of the eye) and association with HLA-B27 gene variants, which is not seen in other types of JIA.", "diagnosis": "Enthesitis-related juvenile idiopathic arthritis is often diagnosed via thorough history and physical exam by a pediatric rheumatologist. Common findings in the history include joint pain and/or stiffness persistent for weeks (often worse in the morning) and enthesitis (pain at the insertion points of tendons and ligaments on bone). Physicians may test for enthesitis by physically pressing on the tendon/ligament insertions and checking for tenderness. Imaging studies may also help in diagnosis. Ultrasound and whole-body magnetic resonance imaging (MRI) are occasionally used to identify enthesitis although they are not used commonly in children. For children who are thought to have inflammation of the spine and sacroiliac joint, physicians can test for mobility of the spine during a physical exam. These tests are normal early in the disease course, so imaging of the spine and sacroiliac joint with MRI may be more helpful in showing inflammation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2582", "name_zh": "色氨酸相关性肌痛-嗜酸性粒细胞增多综合征", "Name": "Eosinophilia-Myalgia Syndrome", "disease_name": "Eosinophilia-Myalgia Syndrome", "synonyms": "EMS", "disease-overview": "", "symptoms": "The symptoms and severity of eosinophilia-myalgia syndrome can vary greatly from one person to another. In most cases, the onset of the disorder is rapid.", "causes": "Although almost all cases of eosinophilia-myalgia syndrome in the 1989 epidemic were traced back to ingestion of contaminated L-tryptophan manufactured by a single company, namely Showa Denko K.K. (Tokyo, Japan), a large petrochemical company, the precise contaminant causing the disease is still unknown.", "affected": "Eosinophilia-myalgia syndrome was identified as an epidemic in 1989 after three people in New Mexico were identified with the disorder. The exact incidence of eosinophilia-myalgia syndrome is unknown. One estimate indicates that anywhere from 5,000-10,000 people developed the disorder during the epidemic. Most reported individuals are females and from the United States. However, eosinophilia-myalgia syndrome has been reported in other countries as well including Germany, Canada and the United Kingdom.", "related-disorders": "Symptoms of the following disorders can be similar to those of eosinophilia-myalgia syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "EMS is a syndrome with multiple clinical presentations and variable severity. The first clinical reports showed that most patients developed profound eosinophilia and severe myalgias. Further, other symptoms included joint pains, weakness or fatigue, difficulty breathing or cough, rash, headache, peripheral edema (swelling), fever and abnormal tingling sensations. Most patients also showed an elevation of an enzyme called serum aldolase, which is an indicator of muscle damage. About one-half of the patients had abnormal liver function tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:73247", "name_zh": "嗜酸细胞性食管炎", "Name": "Eosinophilic Esophagitis", "disease_name": "Eosinophilic Esophagitis", "synonyms": "allergic esophagitis", "disease-overview": "Eosinophilic esophagitis (EoE) is a chronic disorder of the digestive system in which large numbers of a particular type of white blood cell called eosinophils are present in the esophagus. The esophagus is the tube that carries food from the mouth to the stomach. Eosinophils are part of the immune system and play a role in immune regulation and fighting certain infection, and their accumulation is a hallmark of allergic diseases. This condition is characterized by vomiting, stomach or chest pain, failure to thrive (particularly in children), difficulty swallowing and food getting stuck in the throat.", "symptoms": "The symptoms of eosinophilic esophagitis are variable, especially in people of different ages. Common symptoms include difficulty swallowing (dysphagia); food getting stuck in the throat (impaction); nausea; vomiting; poor growth; weight loss; stomach pain; poor appetite; and malnutrition. Because of an overlap of these symptoms with gastroesophageal reflux disease (GERD), many patients are initially thought to have GERD, but EoE patients do not typically have GERD upon diagnostic workup. Recently, it has been appreciated that some patients with pronounced esophageal eosinophilia can have complete responses to proton pump inhibitor (PPI) therapy, typically used for the treatment of GERD, but these patients do not typically have GERD but rather EoE that is responsive to PPIs.  PPI exert this therapeutic effect by direct action rather than blockade of stomach acid alone. For example, PPIs are also ligands (bind to) the aryl hydrocarbon receptor and this elicits an anti-inflammatory and anti-proliferative effect in the esophagus. PPI responsive esophageal eosinophilia has largely overlapping clinical, histological and molecular characteristics with PPI-resistant esophageal eosinophilia, but entities are referred to as EoE and usage of PPIs is now considered a treatment of EoE. Individuals with eosinophilic esophagitis often have allergic diseases such as asthma or eczema.", "causes": "Eosinophilic esophagitis is associated with the presence of many eosinophils in the esophagus driven by an immune response to a variety of foods. The production and accumulation of eosinophils may be caused by many factors such as immune hypersensitivity responses to particular foods or environmental proteins (allergens) in some affected individuals. Most individuals with this condition have been found to have an unusually high expression of a particular gene called eotaxin-3. This gene codes for a protein that is important in controlling the accumulation of eosinophils. Eosinophilic esophagitis can run in families but the risk for additional family members is <5% unless they are twins with the EoE patient. Several genes have been identified to contribute to EoE including CAPN14 and TSLP. A fundamental step in the development of EoE is loss of esophageal barrier function which is mediated by loss of anti-proteases such as SPINK7 and desmosomal proteins such as desmoglein-1 and dysregulated expression of the CAPN14 gene product (calpain-14). It is now appreciated that esophageal eosinophilia as well as other pathological features of EoE are driven by a strong cellular response of the adaptive immune system, primarily orchestrated by type 2 helper T cells (Th2 cells). These cells, along with esophageal mast cells, produce high levels of the cytokine interleukin (IL)-13, which is essential in eliciting multiple pathological processes in the esophagus.", "affected": "The overall prevalence rate, standardized to the U.S. population, has been estimated to be about 56.7/100,000, which is about 152,152 cases. EoE is still considered a rare condition in U.S., but the prevalence has increased over the past 2 decades, nearly doubling in both adults and children. It is not considered a rare condition in Europe. This condition has been reported in multiple continents including Europe, Australia and America.", "related-disorders": "Symptoms of the following disorders are similar to those of eosinophilic esophagitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Gastroesophageal reflux disease (GERD) is a digestive disorder characterized by reflux of the contents of the stomach or small intestines into the esophagus. Symptoms of gastroesophageal reflux may include a sensation of warmth or burning rising up to the neck area (heartburn or pyrosis), swallowing difficulties (dysphagia) and chest pain. This condition is a common problem and may be a symptom of other gastrointestinal disorders.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3165", "name_zh": "嗜酸细胞性筋膜炎", "Name": "Eosinophilic fasciitis", "disease_name": "Eosinophilic Fasciitis", "synonyms": "diffuse eosinophilic fasciitis", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about eosinophilic fasciitis is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other unknown influencing factors prevent physicians from developing an accurate picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below.", "causes": "The exact cause of eosinophilic fasciitis is unknown (idiopathic). Researchers believe that the disorder results due to a nonspecific triggering event that causes an abnormal immune system response, specifically an abnormal allergic or inflammatory reaction. This abnormal response causes the overproduction and accumulation of eosinophils and other white blood cells in certain tissues of the body. The exact reason for this overproduction and accumulation is not fully understood.", "affected": "Eosinophilic fasciitis affects both sexes. Some reports suggest that women are affected with greater frequency than men. The disorder can occur at any age (with age at diagnosis ranging from 1-88), but most often occurs in individuals between 30-60 years of age. It occurs with greater frequency in Caucasians. Approximately 300 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of eosinophilic fasciitis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of eosinophilic fasciitis is suspected based upon a detailed patient history, a thorough clinical evaluation, and various laboratory studies. Characteristic skin grooves called venous grooving are typically present. The prayer sig. (when someone tries to join hands as in prayer but, cannot press the hands flat so they remain curved with just the fingers touching) is indicative of problems with joint mobility and is associated with eosinophilic fasciitis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2070", "name_zh": "嗜酸细胞性胃肠炎", "Name": "Eosinophilic gastroenteritis", "disease_name": "Eosinophilic Gastroenteritis", "synonyms": "EG", "disease-overview": "Eosinophilic gastroenteritis is a rare digestive disease characterized by the triad of eosinophilic infiltration of segments of the gastrointestinal tract, abnormalities of gastrointestinal function (varying from dyspepsia and obstruction to diarrhea and ascites) and exclusion of other diseases with peripheral eosinophilia. Eosinophilic esophagitis is increasingly being recognized and is not included in this report.", "symptoms": "Eosinophilic gastroenteritis may affect any part of the gastrointestinal tract from the esophagus to the rectum. Symptoms include dysphagia (sometimes presenting as food impaction), heartburn, abdominal pain, nausea, vomiting, diarrhea, weight loss, and bloating (ascites is possible). The eosinophilic infiltration may involve one or more layers of the gastrointestinal wall. The particular symptoms present in each person depend upon the layer and the location of involvement. Most commonly, the stomach wall and the small bowel are involved. Mucosal involvement leads to protein-losing enteropathy and malabsorption. Muscle layer involvement causes abdominal pain, vomiting, dyspeptic symptoms and bowel obstruction. Subserosal involvement predominantly causes ascites with marked eosinophilia. Sometimes eosinophilic pleural effusion is present. Eosinophilic gastroenteritis is a chronic, waxing and waning condition.", "causes": "The exact cause of eosinophilic gastroenteritis is unknown. Some cases of this disease may be caused by a hypersensitivity to certain foods or other unknown allergens. Often, a family history of allergy is present. Atopy (asthma, hay fever or eczema) is present in a subset of patients. Food allergies are common.", "affected": "Eosinophilic gastroenteritis is a rare disease (10/100.000) that affects both males and females, but is slightly more common among men. Peak prevalence is in children and adults 20-50 years of age. The reported prevalence has increased markedly, and this is probably due to prior under-diagnosis. People with a history of allergies, eczema, and seasonal asthma are more likely to develop this disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of eosinophilic gastroenteritis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Whipple’s disease is an uncommon digestive disorder of microbial origin that affects the lining of the small intestine and results in malabsorption of nutrients. This disorder may also affect other organs of the body. (For more information on this disorder, choose Whipple as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:183", "name_zh": "嗜酸性肉芽肿性血管炎", "Name": "Eosinophilic granulomatosis with polyangiitis", "disease_name": "Eosinophilic Granulomatosis with Polyangiitis", "synonyms": "allergic angiitis and granulomatosis", "disease-overview": "", "symptoms": "Because multiple organ systems can potentially be affected, the specific symptoms of EGPA vary widely from person to person, including in their severity, duration and onset. Since different organ systems will be affected in different people, all the symptoms discussed below will not occur in every patient. Classically the disorder was separated into three distinct phases – prodromal, eosinophilic and vasculitic; however, these phases may or may not occur sequentially or in all individuals.", "causes": "The exact cause of EGPA is unknown. Most researchers think that several different factors (e.g., environmental, immunological and genetic) all play a role in the development of the disorder. Researchers also think there may be two different types of EGPA. In one, EGPA is classified as an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms begin to attack healthy tissue for unknown reasons. Researchers do not know what sets off or triggers the abnormal immune system response in individuals with EGPA. An autoantibody called antineutrophil cytoplasmic antibodies (ANCAs) is sometimes present in EGPA. The immune system creates antibodies against granules in neutrophils and these may be found on neutrophils, a type of white blood cell, in the lining of blood vessels suggesting they may be part of the damage that occurs in vasculitis. ANCAs have been identified in other related blood vessel disorders (vasculitides) including granulomatosis with polyangiitis (GPA), or in medication induced vasculitis. The development of ANCAs after exposure to medications or infections suggests that exposures may play a role in the immune response though whether a separate immune process that causes vasculitis and development of ANCAs is not clear. In the autoimmune type of EGPA where ANCAs are present (in 30-50% of individuals with EGPA depending on the study), certain symptoms are more common. For example, the development of kidney involvement or bleeding in the lungs is more common in ANCA-associated EGPA.", "affected": "EGPA does not have a sex predilection with equal presentation in males and females. The disorder can affect individuals of almost any age, with children and elderly patients being reported. However, it is rarer in children, adolescents and older adults. Most cases occur in individuals between 38 and 54 years of age. The estimated mean prevalence varies globally but ranges from 3-30.7 individuals per million in the USA, among an insured population. Some researchers think that EGPA is underdiagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of EGPA. It is helpful to keep these conditions in mind when diagnosing EGPA.", "diagnosis": "There are no validated diagnostic criteria for EGPA. Rather, the diagnosis of EGPA may be suspected based on a thorough clinical evaluation, characteristic physical findings and specialized tests particularly in those that present with asthma, sinusitis and blood eosinophilia.  In 2022, the American College of Rheumatology revised their classification criteria for EGPA. Among patients who have been shown to have vasculitis, an individual can be classified as having EGPA rather than another small- or medium-vessel vasculitis) if they have a score of six or more points from the following seven items:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35125", "name_zh": "表皮痣综合征", "Name": "Epidermal Nevus Syndromes", "disease_name": "Epidermal Nevus Syndromes", "synonyms": "ENSs", "disease-overview": "Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribution and appearance. Neurological abnormalities that can be associated with ENSs can include seizures, cognitive impairment, developmental delays and paralysis of one side of the body (hemiparesis). Skeletal abnormalities can include abnormal curvature of the spine, malformation of the hip and abnormalities of the arms and legs (e.g., underdevelopment or absence or overgrowth of limbs). Ocular abnormalities may include cataracts, clouding (opacity) of the cornea or partial absence of tissue of the iris or retina (colobomas). Endocrine abnormalities such as vitamin D-resistant rickets have been associated with Schimmelpenning syndrome. The specific symptoms and severity of ENSs can vary greatly from one person to another. Most ENSs occur randomly for no apparent reason (sporadically), most likely due to a gene mutation that occurs after fertilization (postzygotic mutation) and is present in only some of the cells of the body (mosaic pattern).", "symptoms": "Epidermal nevus syndromes encompass a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending on the specific type of ENS and the presence and extent of associated extra-cutaneous symptoms. The onset and progression of these disorders varies greatly as well.", "causes": "Most epidermal nevus syndromes are thought to be caused by a gene mutation that occurs after fertilization of the embryo (postzygotic mutation), at an early stage of embryonic development. Affected individuals have some cells with a normal copy of this gene and some cells with the abnormal gene (mosaic pattern). This may be referred to as having two distinct cell lines in the body. The variability of symptoms associated with ENSs is due in part to the ratio of healthy cells to abnormal cells. When all cells have the abnormal gene, the condition is not compatible with life. Researchers believe that this postzygotic mutation occurs randomly for no apparent reason (sporadically). By  contrast, CHILD syndrome is inherited as an X-linked dominant, male-lethal trait which means that the disorder can be transmitted from a mother to 50% of her daughters. Her sons will not be affected because male embryos can only survive when they have inherited the normal (healthy) X-chromosome from the mother.", "affected": "Epidermal nevi (including as an isolated finding) have been reported to occur in approximately 1 to 3 per 1,000 live births. The percentage of individuals with epidermal nevi who also have extra-cutaneous malformations is much lower but likewise unknown. The prevalence and incidence of individual ENSs is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of ENS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of an epidermal nevus syndrome is made based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. In some cases, a small sample of affected skin may be taken for microscopic study (biopsy). Additional tests may be required to detect the presence and extent of associated symptoms. Such tests include a skeletal survey, chest x-rays and specialized imaging techniques to evaluate the brain. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). Whether a child with an epidermal nevus should undergo such imaging techniques is controversial. Some researchers believe that these tests should be avoided unless there are clinical signs of central nervous involvement. In three of the well-defined ENSs (type 2 segmental Cowden disease, García-Hafner-Happle syndrome, CHILD syndrome), molecular testing is now possible.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79361", "name_zh": "遗传性大疱性表皮松解症", "Name": "Epidermolysis Bullosa", "disease_name": "Epidermolysis Bullosa", "synonyms": "EB", "disease-overview": "Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one may be either mildly or severely affected. EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal.", "symptoms": "Epidermolysis bullosa is divided into four subdivisions, and each subdivision has subtypes.", "causes": "Inherited epidermolysis bullosa is the focus of this report. The inherited forms follow either autosomal dominant or autosomal recessive inheritance. There is also a rare acquired autoimmune disorder called epidermolysis bullosa aquisita. A mutation in any of at least 18 genes encoding the proteins in the epidermis, basement membrane or dermis causes poor integrity of the skin leading to fragility.", "affected": "Some type of EB occurs in an estimated 1 out of every 50,000 live births. The disorder occurs in every racial and ethnic group throughout the world and affects both sexes equally.", "related-disorders": "Any blistering disorder in the newborn period may mimic EB. These include herpes simplex virus, epidermolytic ichthyosis, bullous impetigo and incontinentia pigmenti.", "diagnosis": "Clinical diagnosis of the type of EB based on presentation in the neonatal period should be avoided as all types of EB may look alike in this age group. When EB is suspected, a skin biopsy should be obtained and sent to an appropriate laboratory to confirm the diagnosis with transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping. Molecular genetic testing for mutations in most of the genes known to be associated with the various types of EB is clinically available.", "therapies": "By definition, inherited EB is a genetically transmitted disorder characterized by marked fragility of the skin. Any trauma, no matter how minimal it may seem, is likely to cause the skin of an EB child or adult to tear or blister. The following are recommended ways to avoid or minimize this problem:"}
{"OrphaCode": "ORPHA:312", "name_zh": "常染色体显性遗传表皮松解性鱼鳞病", "Name": "Autosomal dominant epidermolytic ichthyosis", "disease_name": "Epidermolytic Ichthyosis", "synonyms": "bullous congenital ichthyosiform erythroderma (of Brocq)", "disease-overview": "Epidermolytic ichthyosis (EI) is a genetic skin disorder that is characterized by varying degrees of blistering and scaling of the skin. The symptoms of the disease are often noticed at birth or shortly after, and symptoms change as the patient ages. Symptoms may vary from mild blistering upon friction to severe erosions or widespread warty scaling. Hair and nail abnormalities, reduced sweating and the formation of calluses on the palms or soles (palmoplantar keratoderma) of the feet can also occur. Under a microscope, the skin may show mid-epidermal splitting and skin thickening (hyperkeratosis). Current treatments address the specific symptoms and can include topical treatments, medications and antiseptic washes for skin infections. The cosmetic issues and sometimes unpleasant odor associated with EI can lead to stress and psychological distress.", "symptoms": "The symptoms of EI progress with the patient’s age. Infants more commonly show signs of red, blistering skin and will usually develop thickened skin (cornification) and scaling into adulthood. Infants may also show growths on the inner surface of the eyelid (conjunctival hamartoma). Scales tend to form in parallel rows of spines or ridges. Reddened skin (erythroderma), itchiness (pruritus) and abnormal dryness (xerosis) are common symptoms. Skin ulcers and other damage can lead to bacterial infections. Heat intolerance and sensitivity to sunlight may also occur. A palmoplantar keratoderma may be present and can be so severe as to limit movement and hand function. Milder cases usually show minimal blistering in areas subject to friction or have only a palmoplantar keratoderma.", "causes": "EI is caused by harmful changes (variants) in the KRT1 or KRT10 genes. These variants result in improper expression of keratin 1 and keratin 10, which are structural proteins specifically found in epithelial and epidermal cells. The malfunctioning proteins result in barrier abnormalities that can lead to epidermal inflammation, causing the various symptoms seen with the disease.", "affected": "EI occurs in approximately 1 in 200,000 individuals, affecting males and females equally.", "related-disorders": "Epidermolytic ichthyosis can resemble different diseases depending on the stage it is in. Early stages of EI can resemble diseases that involve the extreme onset of blisters and lesions in infants. Specific disorders include toxic epidermal necrolysis (TEN), epidermolysis bullosa (EB) and incontinentia pigmenti (IP). Blister presentation associated with TEN is caused by the first-time exposure to drugs during infancy. EB is a group of diseases, each characterized by the fragility and blistering of skin and mucosae. IP is an X-linked dominant skin disease caused by variants in the IKBKG gene. IP is a multisystem disorder, and the skin is most commonly affected in infants.", "diagnosis": "EI is diagnosed by clinical signs and symptoms. Histopathology tests and electron microscopy assessments may be used but are not the most definitive. Genetic testing for harmful variants in the KRT1 and KRT10 genes can confirm a diagnosis.", "therapies": "The main goal of treating EI is to ease the presenting symptoms. This can be challenging as it may require a combination of treatments and therapies. The medications that help to remove the excess thickened skin (topical keratolytics or oral retinoids) can leave the very fragile epidermis (underlying living cell layers) exposed. Therefore, application of a barrier repair formula containing ceramides or cholesterol, or topical emollients, may be used in conjunction to relieve and protect the vulnerable skin. Since bacterial infections are a cause of concern, it is recommended that patients wash with antiseptic soap 2-3 times per week. Many patients find baths with salt or sodium bicarbonate, as well as bleach, beneficial as it helps to descale and prevent bacterial overgrowth. If symptoms are seen at birth, the newborn is recommended to be transferred to the neonatal ICU for proper monitoring and care."}
{"OrphaCode": "ORPHA:139431", "name_zh": "Jeavons综合征", "Name": "Epilepsy with eyelid myoclonia", "disease_name": "Epilepsy with Eyelid Myoclonia", "synonyms": "Eyelid myoclonia with or without absence", "disease-overview": "Epilepsy with eyelid myoclonia (EEM) is a genetic generalized epilepsy syndrome with an average age of onset between 6-8 years. Patients typically present in childhood with prominent eyelid myoclonia, which is a jerking or flickering up of the eyelids associated with the eyes rolling up. This typically happens many times a day. Patients may be misdiagnosed, as eyelid myoclonia may be mistaken as a tic or a behavioral reaction and these children are often referred to a psychologist or psychiatrist. Eyelid myoclonia may be associated with absence seizures and eye closure sensitivity, and other seizure types may also be present. Intellectual ability and development are typically normal, but school difficulties and attention problems may occur. The underlying cause is thought to be genetic, and studies suggest that many different genes may be involved. Seizures typically persist for life and drug-resistant epilepsy is common.", "symptoms": "EEM consists of the following three characteristics: 1) eyelid myoclonia with or without absence seizures, 2) eye closure induced seizures or EEG paroxysms and 3) sensitivity to light (photosensitivity). Eyelid myoclonia is required for the diagnosis, which is defined as a jerking, flickering or fluttering of the eyelids usually associated with upward deviation of the orbit and can be associated with a tendency for the head to go backwards (retropulsion of the head). Eyelid myoclonia is typically prominent and the most difficult to control seizure type. Eyelid myoclonia can be induced by eye closure, especially in sunlight or other bright lights and may be associated with loss of awareness, known as absence seizures.", "causes": "The underlying cause of EEM is thought to be genetic, which is supported by a positive family history of epilepsy in many patients and cases in twins. Many different genes may be involved and in recent years, changes (variants) in specific genes have been recognized in a minority of patients, including the genes RORB, SYNGAP1, KCNB1, NAA10, COL6A3, NEXMIF and CHD2. An underlying gene variant may influence the severity and prognosis. In many patients, a specific gene variant may not be identified at this time. Further research is needed to clarify the role of genetics in this disorder.", "affected": "EEM affects about twice as many females than males. Onset is between the ages of 1-15 years with a peak from 6-8 years of age. EEM accounts for only about 1.2-2.7% of patients with epilepsy.", "related-disorders": "EEM shares similarities with other generalized epilepsy syndromes, which should be considered in the differential diagnosis. The features of EEM, including the eye-closure induced EEG paroxysms, photosensitivity and even the eyelid myoclonia may be seen in other epilepsy syndromes. Childhood absence epilepsy (CAE) is an idiopathic generalized epilepsy with onset around the same age as EEM. Patients typically have multiple absence seizures a day, which can be associated with eye fluttering that is not as pronounced as the eyelid myoclonia seen in EEM. CAE resolves in childhood for most patients, unlike EEM. Rarely, it has been reported that patients with CAE can develop EEM.", "diagnosis": "EEM is diagnosed based on the presence of three features that include eyelid myoclonia with or without absence seizures, eye closure-induced seizures or EEG paroxysms and photosensitivity. Making the diagnosis requires a thorough clinical history, neurological examination and an EEG. An EEG capturing eyelid myoclonia or other seizures is not required to make the diagnosis if eyelid myoclonia is witnessed on exam by a healthcare provider and other features of the diagnosis are seen on EEG. An MRI of the brain is not required for the diagnosis, but when done is typically normal or shows nonspecific changes unrelated to epilepsy.", "therapies": "Treatment for EEM consists of broad-spectrum antiseizure medications, including valproic acid, levetiracetam, lamotrigine and clobazam. Modern antiseizure medications like lacosamide, brivaracetam and perampanel are also options, but more experience and research are needed to determine the best treatment. The response to different antiseizure medications can vary between patients, and trials of multiple medications may be necessary. In addition, all antiseizure medications have possible side effects that may limit their use and patients should discuss this with their doctors. For patients with significant photosensitivity, sometimes lens therapy can be effective at reducing seizures. Special lenses have been studied but are not readily available worldwide. In addition, these lenses significantly reduce brightness (luminance), and therefore, may not be well tolerated."}
{"OrphaCode": "ORPHA:157791", "name_zh": "上皮样血管内皮瘤", "Name": "Epithelioid Hemangioendothelioma", "disease_name": "Epithelioid Hemangioendothelioma", "synonyms": "EHE", "disease-overview": "Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma that has a prevalence of less than one in a million people and affects all age groups, with incidence peaking in the fourth and fifth decade of life and is very rare in children. EHE can arise anywhere in the body and most commonly occurs in the liver, lung and bones with more than 50% of patients presenting with metastatic disease.", "symptoms": "", "causes": "", "affected": "", "related-disorders": "", "diagnosis": "", "therapies": NaN}
{"OrphaCode": "ORPHA:35687", "name_zh": "Erdheim-Chester病", "Name": "Erdheim Chester Disease", "disease_name": "Erdheim Chester Disease", "synonyms": "ECD", "disease-overview": "Erdheim-Chester disease (ECD) is a rare multisystem disorder of adulthood. It is characterized by excessive production and accumulation of histiocytes within multiple tissues and organs. Histiocytes are large phagocytic cells (macrophages) that normally play a role in responding to infection and injury. (A phagocytic cell is any scavenger cell that engulfs and destroys invading microorganisms or cellular debris.) In people with ECD, sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, pituitary gland and/or additional tissues and organs. Associated symptoms and findings and disease course depend on the specific location and extent of such involvement. The underlying cause of ECD is thought to be a malignancy of the myeloid progenitor cells.", "symptoms": "ECD characteristically affects certain regions of the long bones of the legs, including the shafts (diaphyses) and the areas (i.e., metaphyses) where the shafts converge with the ends (epiphyses). The ends of the long bones are usually spared or may have mild changes. Infiltration by histiocytes typically leads to widespread or patchy increases in bone density as well as hardening (osteosclerosis) and thickening of bone. In some rare cases, there may also be involvement of other bones, such as the lower jawbone (mandible) or certain bones of the spinal column (vertebrae). In many affected individuals, the initial symptom of the disorder is associated bone pain, usually affecting the knees and legs, that is similar on both sides of the body (symmetrical). In some cases, more generalized symptoms may also develop, including weight loss, fever, muscle and joint aches; and a general feeling of discomfort, weakness, and fatigue (malaise).", "causes": "ECD is thought to represent an abnormal inflammatory process characterized by excessive proliferation and accumulation of certain cells, with associated scarring or overgrowth of fibrous connective tissue (fibrosis). Somatic mutations in the BRAF-V600 gene and other mutations in the mitogen-activated protein kinase (MAPK) signaling and phosphatidylinositol 3-kinase (PI3K)-ART pathways have established ECD as a malignancy of myeloid progenitor cells. A BRAF V600 gene mutation has been found in about half of patients with ECD. There may be widespread infiltration of affected tissues by histiocytic cells that contain large amounts of fatty (lipid) material (xanthomatous histiocytes); certain lymphocytes; and distinctive, large cells with multiple nuclei (Touton giant cells). (Lymphocytes are an immune system cell type that originates in the bone marrow.) In those with ECD, these fatty, nodular (xanthogranulomatous) cell deposits may infiltrate multiple tissues and organs, leading to impaired organ functioning.", "affected": "ECD is a rare disorder of adulthood that most frequently becomes apparent in middle age, with an average age of onset in the mid-50s. More than 100 cases have been reported in the medical literature with a slight male preponderance. ECD is named for the two investigators who originally described the disease.", "related-disorders": "Symptoms of the following disorders may be similar to those of Erdheim-Chester disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Histiocytosis X, also known as Langerhans cell histiocytosis (LCH), is a group of diseases characterized by excessive production and accumulation of histiocytes in various tissues and organs. The lesions may include certain distinctive granule-containing cells (known as Langerhans’ cells) involved in certain immune responses as well as lymphocytes and other immune system cell types (e.g., monocytes, eosinophils). Associated symptoms and findings may vary from case to case, depending on the specific tissues and organs affected and the extent of involvement. Most affected individuals have single or multiple bone lesions characterized by degenerative changes and loss of the calcium of bone (osteolysis). Although the skull is most commonly affected, there may also be involvement of other bones, such as those of the spine (vertebrae) and long bones. Affected individuals may have no apparent symptoms (asymptomatic), experience associated pain and swelling, and/or develop certain complications, such as fractures or secondary compression of the spinal cord. In some cases, other tissues and organs may also be affected, including the skin, lungs, or other regions. In some individuals, LCH may be associated with involvement of the pituitary gland, leading to diabetes insipidus; this form of LCH is known as Hand-Schuller-Christian disease. Certain cellular tissue changes, symptoms, and findings seen in LCH may resemble those associated with ECD, causing some to suggest that the latter may represent a form of LCH. However, evidence suggests that it is a distinct disease entity that differs from LCH regarding age of onset, characteristic bone changes, and other features. LCH most commonly becomes apparent during childhood, while ECD primarily affects middle-aged adults. In addition, the bone changes in LCH are typically characterized by osteolysis and involve the axial skeleton (e.g., the skull and vertebrae); in contrast, as noted earlier, ECD is associated with symmetric hardening (osteosclerosis) and thickening of certain regions of the long bones. (For more information on LCH, choose histiocytosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:502499", "name_zh": "多发性红斑", "Name": "Erythema Multiforme", "disease_name": "Erythema Multiforme", "synonyms": "Dermatostomatitis, Erythema Multiforme Type", "disease-overview": "Erythema multiforme (EM) is the name applied to a group of hypersensitivity disorders, affecting mostly children and young adults, and characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents.", "symptoms": "Onset of erythema multiforme is usually sudden in an otherwise healthy individual.  Red spots (macules or papules), or ridges (wheals), and sometimes blisters appear on the tops of the hands and forearms.  Other areas of involvement may include the face, neck, palms, soles of feet, legs, and trunk.  The lesions continue to erupt for two or three days.  Some spots, especially on the hands and forearms, may evolve into concentric circles that resemble a target, with a grayish discoloration in the center.  A crust may develop over the center.  In about half of the cases, lesions may develop on the lips and the mucous membranes in the mouth.  The skin lesions are usually distributed on both sides of the body.  Itching can also occur.", "causes": "The cause of erythema multiforme is unknown, but it appears to be an allergic reaction that occurs in response to medications, infections, or illness.  As noted above, it often appears in association with herpes simplex virus or with infectious organisms such as Mycoplasma pneumoniae.", "affected": "Erythema multiforme is a rare disorder that affects slightly more males than females.  It may begin at any age, but is most common in children and young adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of Erythema Multiforme.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Urticaria (hives) is easily recognized by the typical well-defined edematous ridges (wheals).  This type of skin disorder does not include blisters.  (For more information on this disorder, choose Urticaria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79355", "name_zh": "角化性红皮病", "Name": "Erythrokeratoderma", "disease_name": "Erythrokeratoderma", "synonyms": "", "disease-overview": "", "symptoms": "The symptoms of PSEK usually develop shortly after birth or during the first year of life. Infants develop reddened plaques of thickened, rough and/or scaly skin, especially on the face, buttocks, arms and legs. Over time, these lesions can cover large areas of the body. The distribution of these lesions is almost perfectly symmetrical, meaning the size, shape and location of the lesions are extremely similar on both sides of the body. These plaques are slowly progressive increasing in number and size throughout early childhood before either stabilizing, regressing or disappearing sometime later during life. Rarely, waxing and waning may occur. In some patients, the chest and abdomen may become involved. Abnormally thickened or calloused skin on the palms and soles (palmoplantar keratoderma; PPK) is not uncommon and can be disabling.", "causes": "Erythrokeratoderma is typically caused by pathogenic variants (mutations) in any of the known genes or an as of yet unidentified gene. These conditions may occur at random (i.e., spontaneous new mutation) or be inherited in an autosomal dominant or autosomal recessive pattern.", "affected": "Erythrokeratoderma affects males and females in equal numbers. The prevalence of the disorder in the general population is unknown. The disorder was first described by Darier in 1911. Since then, more than 100 cases have been described in the medical literature. Autosomal recessive inherited forms of erythrokeratoderma have been reported more commonly in Middle Eastern populations with a higher degree of marriage among blood relatives (consanguinity).", "related-disorders": "Symptoms of the following disorders can be similar to those of erythrokeratoderma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of erythrokeratoderma is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and specialized tests including genetic testing or surgical removal (biopsy) and microscopic evaluation of affected tissue.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79278", "name_zh": "常染色体遗传红细胞生成性原卟啉病", "Name": "Autosomal erythropoietic protoporphyria", "disease_name": "Erythropoietic Protoporphyria and X-Linked Protoporphyria", "synonyms": "EPP", "disease-overview": "", "symptoms": "The most common symptom of erythropoietic protoporphyria and X-linked protoporphyria is severe pain on sun exposure. Some patients may also be sensitive to some types of artificial light. When the skin is exposed to sun, patients first develop tingling, itching, and/or burning of the skin. These symptoms serve as warning signs as longer exposure can result in severe pain. Affected individuals may also have an abnormal accumulation of body fluid under affected areas (edema) and/or persistent redness or inflammation of the skin (erythema). In rare cases, affected areas of the skin may develop sac-like lesions (blisters) and scar if exposure to sunlight is prolonged. However, scarring and/or discoloring of the skin is uncommon and rarely severe. These affected areas of skin may become abnormally thick. The severity and degree of symptoms is different from case to case. Some patients may only be able to tolerate a few minutes of sun exposure while others may be able to tolerate longer sun exposure without symptoms. The amount of sun tolerated may also be different based on weather conditions. Symptoms are often seen during infancy; however, in some cases, it may not occur until adolescence or rarely in adulthood.", "causes": "EPP is a rare genetic disorder caused by genetic changes in the FECH gene. The FECH gene is responsible for providing instructions for the body to create an enzyme called ferrochelatase. This enzyme is involved in a long process to make heme, a chemical that functions to transport oxygen around the body. Without enough of the enzyme, ferrochelatase, the body is not able to finish converting a heme precursor called protoporphyrin into heme, causing buildup of protoporphyrins in certain tissues in the body (i.e., the plasma, red blood cells, and the liver). These protoporphyrins also build up in the superficial blood vessels under the skin. These protoporphyrins are highly sensitive to sunlight. When they absorb sunlight, it results in a reaction which causes severe pain and inflammation resulting in symptoms of EPP.", "affected": "EPP is a very rare inherited disorder that affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 75,000 to 1 in 200,000 individuals in Europe. The number of patients affected by these disorders in the US is unknown. XLP accounts for about 10% of cases in the United States. It is more likely to present in males. Females with XLP may or may not have symptoms.", "related-disorders": "Symptoms of the following disorders can be similar to those of EPP and XLP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are several other types of porphyrias, all of which involve deficiencies of specific enzymes. Most of the symptoms of these porphyrias are not similar to the symptoms found in erythropoietic protoporphyria. Individuals with porphyria cutanea tarda and congenital erythropoietic porphyria may develop skin lesions; however, these lesions do not resemble the skin lesions found in EPP. It is important to note that individuals with one type of porphyria do not develop any of the other types. In addition, there are skin disorders characterized by hypersensitivity to artificial light and sunlight besides EPP, such as xeroderma pigmentosum and epidermolysis bullosa. The skin lesions in these disorders do not resemble the skin lesions in EPP. (For more information on these disorders, choose porphyria, xeroderma pigmentosum or epidermolysis bullosa as your search terms in the Rare Disease Database.).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3103", "name_zh": "Roberts综合征", "Name": "ESCO2 Spectrum Disorder", "disease_name": "ESCO2 Spectrum Disorder", "synonyms": "", "disease-overview": "", "symptoms": "The symptoms associated with Roberts syndrome vary widely from person to person even among members of the same family. Most infants experience growth deficiencies and have abnormalities of the limbs and craniofacial region. Infants with Roberts syndrome often experience life-threatening complications early in infancy.", "causes": "The ESCO2 spectrum disorders, including Roberts syndrome, are caused by changes (variants or mutations) in the ESCO2 gene.", "affected": "ESCO2 spectrum disorders affect males and females in equal numbers. Affected children often have parents who are blood relatives. Patients have been reported from all over the world. The two families with Juberg-Hayward syndrome were identified in a tribe in Thailand with the identical ESCO gene mutation.", "related-disorders": "Symptoms of the following disorders can be similar to those of Roberts syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cornelia de Lange syndrome (CdLS) is a dominantly inherited, multi-system developmental disorder. The asymmetrical upper limb defects are similar but different from those in Roberts syndrome, which is ranging from small hands with single palmar creases and subtle changes in the bones of fingers (phalanges) and the palm (metacarpal bones) to severe forms of lack of fingers (oligodactyly) and truncation of the forearm primarily involving the structures on pinky side (ulnar). The characteristic facial features seen in individuals with CdLS are easy to identify and may be one of the most useful diagnostic signs, which includes one fused heavy eyebrow (synophrys), long eyelashes, depressed nasal bridge, long philtrum, thin upper lip, small widely spaced teeth, disproportionate small and short head (brachycephaly), and low-set ears. Other common clinical presentations are excessive bodily or facial hair (hirsutism), various eye (ophthalmologic) problems, stomach and esophagus (gastroesophageal) dysfunction, heart defects, growth delay, and neurodevelopmental delay. The intellectual disability seen in CdLS is severe; autism and self-destructive tendencies are also seen in many patients. Mildly affected patients may go undiagnosed.About 50% of CdLS patients have a mutation in the NIPBL gene and a small portion of patients have mutations in the SMC1A or SMC3 gene, while the rest have no reported gene mutations. SMC1A and SMC3 proteins are structural subunits of the cohesin complex. Both ESCO2 (the disease-causing gene of RBS) and NIPBL regulate cohesin complex, although through different mechanisms. (For more information on this disorder, choose CdLS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2198", "name_zh": "掌跖角化病-食管癌综合征", "Name": "Esophageal Cancer", "disease_name": "Esophageal Cancer", "synonyms": "", "disease-overview": "", "symptoms": "In the early stages esophageal cancer may not be associated with any symptoms (asymptomatic). As the cancer grows, affected individuals may have difficulty swallowing solid foods (dysphagia). This occurs because the tumor has grown enough to partially block the esophageal tube. Initially, this may affect certain foods such as meat, apples or bread, which can stick in the throat. Eventually, affected individuals may have difficulty swallowing liquids. Many individuals may experience pain when attempting to swallow (odynophagia). This most often occurs with dry foods, and can often differentiate cancer from more benign causes of swallowing difficulty.", "causes": "The exact underlying cause of esophageal cancer is not fully understood. Many cancers are caused by damage to the DNA (deoxyribonucleic acid; genes) in cells which leads to cancer. However, the exact reason normal cells become cancerous is not known. Most likely, multiple factors including genetic and environmental ones play a role in the development of esophageal cancer in certain people. Current research suggests that abnormalities of DNA which is the carrier of the body’s genetic code, are the underlying basis of cellular malignant transformation.", "affected": "Approximately 17,000 people are diagnosed with esophageal cancer in the United States each year. Squamous cell carcinoma and adenocarcinoma account for about 95% of people with esophageal cancer. The number of people with squamous cell carcinoma is decreasing in the U.S., but the number of people with adenocarcinoma is increasing. The number of people with esophageal cancer varies greatly throughout the world. It is the seventh most common cancer worldwide. Squamous cell carcinoma of the esophagus is more common in East Asia and the Middle East. Adenocarcinoma is more common in Western Europe, North America, and Australia. Adenocarcinoma occurs more often in the lower portion of the esophagus.", "related-disorders": "Symptoms of the following disorders can be similar to those of esophageal cancer. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of esophageal cancer is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis is usually confirmed by a biopsy, in which a small piece of tissue is taken and studied under a microscope to identify cancerous cells. The tissue sample is studied by a doctor who specializes in examining tissue and cells and determining what disease is present (pathologist).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98981", "name_zh": "特发性虹膜萎缩症", "Name": "Essential Iris Atrophy", "disease_name": "Essential Iris Atrophy", "synonyms": "ICE syndrome, essential iris atrophy type", "disease-overview": "Essential iris atrophy is a very rare, progressive disorder of the eye characterized by a pupil that is out of place and/or distorted areas of degeneration on the iris (atrophy), and/or holes in the iris. This disorder most frequently affects only one eye (unilateral) and develops slowly over time. Attachment of portions of the iris to the cornea (peripheral anterior synechiae) and subsequent closure of the drainage angle may lead to secondary glaucoma and vision loss.", "symptoms": "Major symptoms of essential iris atrophy may include a displaced and/or distorted pupil, patchy areas of degeneration (atrophy) on the iris, and/or holes in the iris. The edge of the pupil may turn outward (ectropion uveae). The onset of this disorder is gradual, and the changes in the shape and placement of the pupil are usually noticed before any change in vision occurs. Degeneration and holes in the iris may develop over a period of several years.", "causes": "The cause of essential iris atrophy or any other of the iridocorneal endothelial syndromes is not known. They are thought to be the result of the same mechanism.  The primary defect is believed to be a cellular membrane secreted by the abnormal endothelial cells. This membrane covers the iris and the drainage angle of the eye. The contraction of this membrane leads to pupillary changes and formation of peripheral anterior synechiae with resultant angle closure glaucoma.", "affected": "Essential iris atrophy is a very rare disorder that predominantly affects females in the middle adult years. The prevalence is not known.", "related-disorders": "", "diagnosis": "Symptoms of the following disorders can be similar to those of essential iris atrophy. Comparisons may be useful for a differential diagnosis:", "therapies": "Secondary Glaucoma and Treatment:"}
{"OrphaCode": "ORPHA:3318", "name_zh": "原发性血小板增多症", "Name": "Essential thrombocythemia", "disease_name": "Essential Thrombocythemia", "synonyms": "essential hemorrhagic thrombocythemia", "disease-overview": "", "symptoms": "The greatest health risk in patients with ET is an increased risk of developing blood clots. Blood clots can be in the deep vessels of the legs or lungs; ET patients are also more likely to experience strokes and heart attacks. ET patients can develop clots elsewhere, including within the abdomen, an otherwise rare site for clots to form. The risk of clotting increases with age, and disease-associated risks may be quite different for children than for adults, with children generally being at low risk for clots and other problems related to ET. In addition, (and somewhat counter-intuitively) a subset of ET patients may also be more likely to bleed; this appears to be restricted to a small minority of patients with a very high (over 1.5 million) platelet count. Other symptoms in ET include headaches, fatigue, temporary changes in vision, dizziness, ringing in the ears, vertigo and tingling in the hands.", "causes": "Over the ensuing decades, Dr. Dameshek’s predictions about a stimulus triggering the proliferation of blood cells were confirmed. The first came in the 1960s, when the genetic basis for another MPN family member known as chronic myelogenous leukemia (CML) was identified as the Philadelphia chromosome, named after the city in which it was discovered. The Philadelphia chromosome is an abnormal chromosome caused by the fusion of two chromosomes in the leukemia cells. This genetic change causes a specific protein, called a kinase, to be overactive. Because kinases are very powerful drivers of cell growth, this genetic change leads to an elevation in blood counts and enlargement of the liver and spleen. Once the genetic basis of CML was identified, drugs that might interfere with kinase activity (kinase inhibitors) were tested and proved to be extraordinarily successful in treating CML. Collectively these studies radically reversed the natural history of the CML by converting what was previously a fatal disease to one with an excellent prognosis. The majority of patients with CML are diagnosed because they have a high white blood cell count, but on occasion patients with CML will only have a high platelet count, therefore every patient with suspected ET is also evaluated for CML, with a test for the Philadelphia chromosome.", "affected": "Fewer than 1 in 100,000 people are diagnosed with ET in any year (the most recent estimates range from 0.38 to 1.7 per 100,000). Women are more likely to be diagnosed with ET than men, although the reason for this is unknown. The average age of onset is mid-fifties, but the range is wide, and includes women in their childbearing years, which makes up an important subset of ET patients with special therapeutic considerations (discussed below). In children ET is exceedingly rare and typically is an inherited genetic disorder. In adults, the genetic mutations typically identified in ET (described below) are not inherited, and instead are acquired genetic accidents (known as an acquired mutation) that happen during an individual’s lifetime. Genetic accidents happen to all of us as we age, although they do not always result in a disease.", "related-disorders": "Symptoms of the related myeloproliferative disorders can be similar to those of essential thrombocythemia, although as a general rule the burden of symptoms is milder in ET patients. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Many, if not most ET patients have no symptoms related to their disease when they are diagnosed, and instead have an abnormally high platelet count identified on routine blood tests. Other ET patients are identified when they have symptoms or a complication – often a blood clot – related to ET. Additional tests may be performed to confirm the elevated platelet count, and to elucidate its possible causes. These may include blood tests that evaluate for iron deficiency and/or inflammatory diseases, and genetic tests for mutations that are seen in ET or related diseases. If no other obvious cause for an elevated platelet count is identified, and/or ET or a related blood disorder is suspected, a hematologist will typically recommend a bone marrow biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1959", "name_zh": "Evans综合征", "Name": "Evans syndrome", "disease_name": "Evans Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "The symptoms and severity of Evans syndrome can vary greatly from one person to another as can the onset, course and duration of the disorder. Most individuals exhibit a chronic course with periods of worsening symptoms (exacerbation) and remissions usually induced transiently by treatment. Most symptoms are caused by low levels of specific blood cells in the body. These blood cells perform specific functions. Red blood cells deliver oxygen to the body and remove carbon dioxide, platelets assist in clotting to stop blood loss, and white blood cells help to fight infection.", "causes": "The exact, underlying cause of Evans syndrome is unknown. Evans syndrome is an autoimmune disorder. It occurs when the immune system produces antibodies that mistakenly attack healthy tissue, specifically red blood cells, platelets and sometimes certain white blood cells.", "affected": "The incidence and prevalence of Evans syndrome is unknown. The disorder can affect children or adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of Evans syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Evans syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. No specific test is conclusive for Evans syndrome and a diagnosis is made after excluding other possible diagnoses. Specifically, a diagnosis of Evans syndrome may be made when autoimmune hemolytic anemia (with a positive direct coombs test) and thrombocytopenia (ITP) occur in the same patient even if not at the same time.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:319", "name_zh": "骨骼尤文氏肉瘤", "Name": "Ewing Sarcoma", "disease_name": "Ewing Sarcoma", "synonyms": "EFT", "disease-overview": "Ewing sarcoma is a rare bone tumor that occurs most often in adolescents. It can also arise outside of the bone in soft tissue (extraosseous Ewing sarcoma). Ewing sarcoma is related to another type of tumor known as primitive neuroectodermal tumor (PNET). Researchers have learned that these tumors are associated with the same chromosomal abnormality (balanced reciprocal translocation) and share many physiological characteristics. Consequently, these tumors are sometimes collectively classified as the Ewing family of tumors (EFT). This general term encompasses Ewing sarcoma of bone, extraosseous Ewing sarcoma, primitive neuroectodermal tumor, and Askin’s tumor (a tumor of the chest wall). Ewing sarcoma of bone accounts for approximately 70 percent of the tumors in this family. Generally, the term Ewing sarcoma is preferred because, despite the different names, it is one tumor, molecularly. Ewing sarcoma of bone most often affects the long bone of the legs (femur) and flat bones such as those found in the pelvis and chest well. Ewing sarcoma is an aggressive cancer that may spread (metastasize) to the lungs, other bones, and bone marrow potentially causing life-threatening complications. The exact cause of these tumors is unknown.", "symptoms": "Individuals with a tumor in the Ewing family of tumors may exhibit pain, tenderness, and swelling near the affected part of the body. Pain often comes and goes (intermittent) initially, eventually progressing to be more consistent. Weakness and numbness in the affected area can also occur. In some cases, affected individuals may also experience fever, lack of energy, weight loss, low levels of circulating red blood cells (anemia), and increased levels of circulating white blood cells (leukocytosis). A palpable mass is often present.", "causes": "The exact cause of Ewing sarcoma is unknown and the underlying cell type has not been identified. Most cases are thought to occur randomly, for no specific reason (sporadically).", "affected": "Ewing sarcoma affects males more often than females. It may affect individuals of any age, but most often occurs in individuals between 10 and 20 years of age. The annual incidence of Ewing sarcoma is 2.93 children per 1,000,000. Approximately 200-250 children and adolescents in the United States are diagnosed with a tumor in the Ewing family of tumors each year. Two-thirds will be long-term survivors (more than five years). The tumor occurs with greater frequency in Caucasians. It is extremely rare in African Americans and Asians.", "related-disorders": "Symptoms of the following disorders can be similar to those of Ewing sarcoma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of a tumor in the Ewing family of tumors is based upon a thorough clinical evaluation, the identification of characteristic symptoms and physical findings, a detailed patient history, and a variety of specialized tests. Such testing includes microscopic evaluation of tumor cells and affected tissue (histopathology) and molecular analysis looking for the EWS-FLI1 translocation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:324", "name_zh": "法布里病", "Name": "Fabry disease", "disease_name": "Fabry Disease", "synonyms": "alpha-galactosidase A deficiency", "disease-overview": "Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders. This enzymatic deficiency is caused by alterations (mutations) in the α-galactosidase A (GLA) gene that instructs cells to make the α-galactosidase A (α-Gal A) enzyme. Lysosomes function as the primary digestive tract of cells. Enzymes within lysosomes break down or digest particular compounds and intracellular structures. α-Gal A functions to break down complex sugar-lipid molecules called glycolipids, specifically, globotriaosylceramide (GL-3 or Gb3), its deacylated form Lyso-GL-3/Gb3 and related glycolipids, by removing the terminal galactose sugar from the end of these glycolipid molecules. The enzyme deficiency causes a continuous build-up of GL-3/Gb3 and related glycolipids in the body’s cells, resulting in the cell abnormalities and organ dysfunction that particularly affect small blood vessels, the heart and kidneys (Desnick 2001, Germain 2010).", "symptoms": "Type 1 Classic Phenotype", "causes": "Genetics", "affected": "Fabry disease is a rare pan-ethnic disorder, meaning that it occurs in all racial and ethnic populations affecting males and females. It is estimated that type 1 classic Fabry disease affects approximately one in 40,000 males. The type 2 later-onset phenotype is more frequent, than the type 1 phenotype by 3-10 fold, and in some populations may occur as frequently as about 1 in 1,500 to 4,000 males (Spada 2006, Hwu 2009, Chien 2012). Data emerging from the newborn screening studies suggests that the incidence of Fabry disease varies in different geographic regions (Spada 2006, Hwu 2009, Burlina 2018, Wasserstein 2019).  Already, newborn screening for Fabry disease has been initiated in several states in the USA.", "related-disorders": "Symptoms of the following disorders can be similar to those of Fabry disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Schindler disease is a rare inherited metabolic disorder characterized by a deficiency of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA), which leads to an abnormal accumulation of certain complex compounds (glycosphingolipids and oligosaccharides) in many tissues of the body (Schindler 1989). Schindler disease is inherited as an autosomal recessive disorder. There are three types of Schindler disease. The classic form of the disorder, known as Schindler disease, type I, has an infantile onset. Affected individuals appear to develop normally until approximately one year of age, when they begin to lose previously acquired skills that require the coordination of physical and mental activities (developmental regression). Additional neurological and neuromuscular symptoms may become apparent, including diminished muscle tone (hypotonia) and weakness; involuntary, rapid eye movements (nystagmus); visual impairment; and episodes of uncontrolled electrical activity in the brain (seizures). With continuing disease progression, affected children typically develop restricted movements of certain muscles due to progressively increased muscle rigidity, severe intellectual disability, hearing and visual impairment, and a lack of response to stimuli in the environment. Type II Schindler disease also known as Kanzaki disease, is the adult-onset form with symptoms presenting in the second or third decade of life (Kanzaki 1993). The disorder is characterized by angiokeratoma, a skin lesion and distribution similar to that seen in type 1 classic Fabry disease. Presentation may also include lymphedema, intellectual impairment, and distinct facial features including mildly coarse features, thick lips, a depressed nasal bridge and an enlarged tip of the nose. Type III Schindler disease is an intermediate form the disorder. Symptoms can range from more serious intellectual impairment, neurological dysfunction and seizures to milder neurological and psychiatric issues such as speech and language delays and mild autism-like symptoms. (For more information on this disorder, choose Schindler as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:269", "name_zh": "面肩肱型营养不良", "Name": "Facioscapulohumeral dystrophy", "disease_name": "Facioscapulohumeral Muscular Dystrophy", "synonyms": "facio-scapulo-humeral dystrophy", "disease-overview": "Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). The disorder gets its name from muscles that are affected in the face (facio), around the shoulder blades (scapulo), and in the upper arms (humeral). Hamstring and trunk muscles are affected -early on but are less well recognized. Other arm and leg muscles are frequently eventually affected in the course of the disease. Symptoms usually appear before age 20, but can begin in infancy or later in adulthood. Severity of the condition varies widely and some people with the disease allele remain asymptomatic. FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family. Life expectancy is not shortened. FSHD is usually inherited as an autosomal dominant genetic condition.", "symptoms": "FSHD may initially involve weakness of muscles of the face, shoulder girdle and arms. Facial weakness may result in limited movements of the lips, causing difficulties whistling, using a straw, or puckering the lips. Affected individuals may also develop a distinctive mask-like facial appearance. Upper facial weakness may also lead to an inability to completely close the eyes during sleep.", "causes": "FSHD1 is caused by abnormal expression of the DUX4 gene, which is located in the D4Z4 region of chromosome 4. Normally, the DNA in the D4Z4 region is hypermethylated (has many methyl groups: 1 carbon atom and 3 hydrogen atoms) and includes 11-100 repeated segments of DNA. In individuals with FSHD1, this region of chromosome 4 is shortened and contains 1-10 repeats and fewer methyl groups. The lack of methyl groups allows the DUX4 gene to be turned on and produce DUX4 protein in cells and tissues where it is usually not produced, resulting in progressive muscle weakness and atrophy. Generally, a smaller number of repeats is associated with more severe disease.", "affected": "FSHD appears to affect males and females in relatively equal numbers. The estimated prevalence is between four and ten per 100,000 people.", "related-disorders": "There are a number of genetic neuromuscular diseases that may be characterized by muscle weakness of varying severity, muscle atrophy, and associated symptoms that may be similar to those that may occur with FSHD. These include some limb girdle muscular dystrophies such as due to calpainopathy and inclusion body myositis. These conditions typically have characteristic features that may differentiate them from FSHD. (For more information on such disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)", "diagnosis": "FSHD may be diagnosed based upon a thorough clinical examination, identification of characteristic physical findings, a complete individual and family history, and genetic testing. In some affected individuals, laboratory studies may reveal elevated levels of a particular enzyme in the fluid portion of the blood (serum creatine kinase). Tests may also be conducted to record electrical activity in voluntary (skeletal) muscles at rest and during muscle contraction (electromyography [EMG]). Surgical removal (biopsy) and microscopic examination of small samples of muscle tissue is generally not informative in FSHD.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:58", "name_zh": "亚历山大病", "Name": "Alexander disease", "disease_name": "Factor VII Deficiency", "synonyms": "Alexander's disease", "disease-overview": "", "symptoms": "The symptoms and severity of factor VII deficiency are highly variable; no consistent correlation between the amount of factor VII in the blood and overall severity is seen. Some individuals may not develop any symptoms (asymptomatic), including individuals with relatively low levels of factor VII. Other individuals may have mild cases that are only apparent after trauma or surgery. Mild symptoms can include chronic nosebleeds, easy bruising, and bleeding from the gums. People who menstruate may develop heavy and prolonged periods (menorrhagia).", "causes": "Factor VII deficiency is caused by mutations of the F7 gene. These mutations are inherited in an autosomal recessive manner. Genetic diseases are determined by the combination of genes for a particular trait that are received from the father and the mother.", "affected": "Factor VII deficiency affects males and females in equal numbers. The disorder is estimated to affect 1 in 300,000 to 500,000 individuals in the general population. However, many cases of factor VII deficiency go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. The incidence of factor VII deficiency tends to be higher in countries where marriage to close relatives (consanguineous marriage) is more common. According to the medical literature, more than 200 cases of true factor VII deficiency have been reported. Because of the variable severity of factor VII deficiency, the age of presentation can vary widely from birth until adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of factor VII deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of factor VII deficiency is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized blood tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:328", "name_zh": "先天性10因子缺乏", "Name": "Congenital factor X deficiency", "disease_name": "Factor X Deficiency", "synonyms": "congenital factor X deficiency", "disease-overview": "Factor X deficiency is a rare genetic blood disorder that causes the normal clotting process (coagulation) to take longer than normal. This causes people to bleed for a longer amount of time spontaneously or after trauma/surgery. Factor X is a clotting protein (also called a clotting factor). Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Clotting requires a series of reactions to ultimately form a clot to plug a wound. This is referred to as the clotting (coagulation) cascade. The clotting cascade involves different substances in addition to clotting factors. Factor X, which is produced (synthesized) in the liver, eventually interacts with other clotting factors and certain cells or substances, e.g., platelets or fibrinogen, to help to form a clot. Factor X deficiency is caused by a change (variant or mutation) in the F10 gene. The U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) approved a drug called Coagadex for adults and children over 12. This medication restores functional factor X levels.", "symptoms": "The signs and symptoms of factor X deficiency are highly variable; this means that how the disorder affects one person can be very different from how it affects another person. Symptoms can develop at any age. Generally, the more severe the disorder, the earlier the symptoms begin.", "causes": "The F10 gene creates (encodes) factor X. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent or overproduced. Variants in the F10 gene result in deficient levels of functional factor X, which in affected individuals, prevents the blood from clotting properly. Depending upon the functions of the protein, this can affect many organ systems of the body. Consequently, affected individuals have difficulty stopping the flow of blood from a wound; but they do not bleed faster or more profusely than healthy individuals.", "affected": "Factor X deficiency affects males and females and can occur in individuals of any ethnic or racial group. The disorder is estimated to affect about 1 in every 500,000-1,000,000 people in the general population. Rare disorders like factor X deficiency often go unrecognized or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of factor X deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of factor X deficiency is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment of factor X deficiency may require the coordinated efforts of a team of specialists. Pediatricians, general internists, physicians who specialize in diagnosing and treating blood disorders (hematologists), dental specialists and other healthcare professionals may need to plan treatment systematically and comprehensively. Psychosocial support for the entire family is essential as well. Genetic counseling is recommended for affected individuals and their families."}
{"OrphaCode": "ORPHA:329", "name_zh": "先天性XI因子缺乏", "Name": "Factor XI Deficiency", "disease_name": "Factor XI Deficiency", "synonyms": "haemophilia C", "disease-overview": "", "symptoms": "In most cases, the bleeding tendency in individuals with factor XI deficiency, even with very low factor levels, is mild. Affected individuals may experience bleeding episodes following trauma or surgery including dental procedures, tonsillectomies or surgery involving the urinary or genital tracts. Bleeding may also occur after circumcision. Bleeding may begin at the time of injury and persist if untreated, or bleeding may develop several hours after the injury. Untreated individuals may develop large, solid swellings of congealed blood (hematomas) following a surgical procedure.", "causes": "Factor XI deficiency is caused by mutations in the F11 gene. The F11 gene encodes factor XI. Factor XI is one of the essential blood proteins and plays a role in aiding the blood to clot. Mutations of the F11 gene result in deficient levels of functional factor XI. The symptoms of factor XI deficiency occur, in part, due to this deficiency. Individuals with factor XI deficiency often have varying levels of residual factor XI. In many disorders, the amount of residual protein activity correlates with the severity of the disease (e.g. little to no residual protein activity results in severe disease). However, in factor XI deficiency the severity of the disorder does not always correlate with the residual activity of factor XI. For example, individuals with a severe deficiency of factor XI may have mild or no symptoms of the disorder and individuals with a partial deficiency of factor XI may have more significant symptoms. This suggests that additional genetic and environmental factors play a role in the severity of the disorder. This variability even exists among members of the same family.", "affected": "Factor XI deficiency affects males and females in equal numbers. The disorder can affect individuals of any age and any ethnic group. It is the second most common bleeding disorder to affect women (after von Willebrand disease). The incidence of factor XI deficiency is higher in individuals of Ashkenazi Jewish descent where it is estimated to affect 8% of the population. The severe form of the disorder is estimated to affect approximately 1 in 1,000,000 people in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of factor XI deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of factor XI deficiency is based upon identification of characteristic symptoms, a detailed patient and family history, and a thorough clinical evaluation. Several different tests may be necessary to confirm a diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:330", "name_zh": "先天性XII因子缺乏症", "Name": "Factor XII Deficiency", "disease_name": "Factor XII Deficiency", "synonyms": "F12 deficiency", "disease-overview": "", "symptoms": "Factor XII deficiency is rarely associated with any symptoms (asymptomatic). However, when blood from a patient is subjected to a partial thromboplastin time test (PTT), a test measuring clotting time, it takes an abnormally long time for the blood to clot. Serum prothrombin (PT) time, another test of blood clotting, is also abnormally long. The blood level of factor XII tends to vary greatly.", "causes": "Factor XII deficiency is inherited as an autosomal recessive disorder. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Factor XII deficiency affects persons of Asian descent more often than individuals of other ethnicities. Males and females are affected in equal numbers. Since no symptoms are usually associated with factor XII deficiency, many individuals remain undiagnosed. The exact incidence of the disorder in the general population is unknown, but estimated to be approximately 1 in 1 million individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of factor XII deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Factor XII deficiency is often diagnosed accidentally during a routine blood clotting (coagulation) tests as in one done before surgery. In affected individuals, it will take longer for their blood to clot during these tests. Further tests can reveal low levels of factor XII in the blood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:331", "name_zh": "先天性XIII因子缺乏", "Name": "Congenital factor XIII deficiency", "disease_name": "Factor XIII Deficiency", "synonyms": "congenital factor XIII deficiency", "disease-overview": "", "symptoms": "The symptoms and severity of factor XIII deficiency can vary from one person to another. However, in most of the patients (80%) bleeding symptoms appear after birth with bleeding from the umbilical stump being most common. Some individuals may only have a mild expression of the disorder that will not become apparent until after a bleeding complication occurs following trauma or surgery. In more serious cases, bleeding can occur spontaneously or following activities that normally would not produce problems such as strenuous exercise. It is important to note the variability of factor XIII deficiency and to understand that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Mutations causing factor XIII deficiency are inherited as autosomal recessive traits. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Factor XIII deficiency affects males and females in equal numbers. Symptoms can become apparent at any age. Individuals of any race or ethnicity can be affected. The incidence of factor XIII deficiency has been estimated to be between 1 in 2,000,000-5,000,000 people in the general population. However, factor XIII deficiency can go undiagnosed or misdiagnosed, making it difficult to determine the disorder’s true frequency. Most researchers believe that the disorder is under-diagnosed. The incidence of factor XIII deficiency tends to be higher in countries where marriage to close relatives (consanguineous marriage) is more common.", "related-disorders": "Symptoms of the following disorders can be similar to those of factor XIII deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of factor XIII deficiency is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Standard tests used to diagnose bleeding disorders such as activated partial thromboplastin time (aPTT) and prothrombin time (PT) are normal and therefore ineffective. A diagnosis of factor XIII may be suspected in infants that experience heavy or abnormal bleeding at birth.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:733", "name_zh": "家族性腺瘤性息肉病", "Name": "Familial adenomatous polyposis", "disease_name": "Familial Adenomatous Polyposis", "synonyms": "adenomatous polyposis of the colon (APC)", "disease-overview": "Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. FAP is inherited in an autosomal dominant manner and caused by abnormalities (mutations) in the APC gene. Mutations in the APC gene cause a group of polyposis conditions that have overlapping features: familial adenomatous polyposis, Gardner syndrome, Turcot syndrome and attenuated FAP.", "symptoms": "Classic FAP is characterized by hundreds to thousands of colorectal adenomatous polyps, with polyps appearing on average at age 16 years. Without colectomy, affected individuals usually develop colorectal cancer by the third or fourth decade of life. FAP is also associated with an increased risk for cancer of the small intestine including the duodenum, and cancer of the thyroid, pancreas, liver (hepatoblatoma), central nervous system (CNS), and bile ducts, although these typically occur in less than 10% of affected individuals.", "causes": "Familial adenomatous polyposis is caused by germline (present in the first cell of the embryo) mutations in the APC gene and is inherited in an autosomal dominant manner, meaning that on average 50% of children of an affected parent will have the disease passed on to them.", "affected": "Familial adenomatous polyposis affects males and females in equal numbers. It occurs in approximately one in 5,000 to 10,000 individuals in the United States and accounts for about 0.5% of all cases of colorectal cancer. One estimate suggests that familial adenomatous polyposis affects 50,000 American families. According to national registries, familial adenomatous polyposis occurs in 2.29-3.2 per 100,000 individuals.", "related-disorders": "Features of the following disorders can be similar to those of the APC gene-associated polyposis conditions. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Classical FAP is diagnosed clinically when an individual has 100 or more adenomatous colorectal polyps (typically occurring by the third decade of life) or fewer than 100 polyps and a relative with FAP. Genetic testing for mutations in the APC gene is available to confirm the diagnosis of FAP and the associated conditions. Younger individuals may have fewer polyps. A diagnosis is made in younger people by the presence of the typical polyps and in immediate relative with FAP or by genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1416", "name_zh": "家族性焦磷酸钙沉着", "Name": "Familial Calcium Pyrophosphate Deposition Disease", "disease_name": "Familial Calcium Pyrophosphate Deposition Disease", "synonyms": "chondrocalcinosis 1 (CCAL1)", "disease-overview": "", "symptoms": "The symptoms of CCAL1 and CCAL2 usually begin as acute, recurring attacks of pain, swelling, warmth and redness in one or more joints. Other affected people have swelling, stiffness, and pain with little or no inflammation in the joints.  A knee, wrist, hip, or shoulder is most frequently affected, although any joint of the body may be involved. Acute episodes can last for days to weeks, and symptoms may go away without treatment. CPP deposits may accumulate around the bones of the spine (vertebrae) and cause back or neck pain and/or loss of mobility. Many patients with CPPD develop chronic arthritis which can resemble osteoarthritis or rheumatoid arthritis.", "causes": "CCAL2 is caused by changes (variants or mutations) in the ANKH gene that lead to an increased amount of the ANKH protein produced.", "affected": "CCAL1 and CCAL2 are rare disorders. Eight families have been described in the medical literature with CCAL2. Four families with TNFSRF11B gene variants associated with CCAL1 have been identified. There is no known ethnic or sex predilection.", "related-disorders": "Symptoms of the following disorders can be similar to those of CCAL1 and CCAL2. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Sporadic CPDD typically occurs in people over age 60 but causes similar symptoms of acute and chronic arthritis. The non-genetic forms may also occur in association with certain metabolic conditions such as hyperparathyroidism, familial hypocalciuric hypercalcemia, Bartter’s syndrome, hypophosphatasia, hypomagnesemia and hereditary hemochromatosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:47045", "name_zh": "家族性寒冷性荨麻疹", "Name": "Familial cold urticaria", "disease_name": "Familial Cold Autoinflammatory Syndrome", "synonyms": "familial cold urticaria", "disease-overview": "Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is a rare, inherited inflammatory disorder characterized by intermittent episodes of rash, fever, joint pain and other signs/symptoms of systemic inflammation triggered by exposure to cold. Onset of FCAS occurs during infancy and early childhood and persists throughout the patient’s life.", "symptoms": "Patients with FCAS experience mild to debilitating symptoms such as rash, fatigue, recurrent fever and chills, recurrent joint pain, and recurrent conjunctivitis (inflammation of the outer most layer of the eye causing redness, discomfort and discharge from the eye).", "causes": "FCAS is usually inherited in an autosomal dominant condition and is caused by a heterozygous mutation in a gene identified as CIAS1/NLRP3 that codes for the protein cryopyrin (NALP3). Mutations in this gene are hypothesized to cause increased activity of a protein complex containing cryopyrin. This protein complex is known as the inflammasome and regulates inflammation in the body. Increased inflammasome activity results in increased release of a protein known as interleukin (IL) 1ß, which leads to symptoms of inflammation such as fever and joint pain.", "affected": "Since FCAS is a newly discovered condition, the actual incidence and prevalence of the disease is difficult to determine at this time.", "related-disorders": "Symptoms of the following disorders can be similar to those of FCAS and there is significant phenotypic overlap. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of FCAS is determined through an evaluation of a patient’s symptoms. Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4), although not all FCAS patients possess a mutation in this gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:85110", "name_zh": "家族性脑病伴神经丝氨酸蛋白包涵体", "Name": "Familial encephalopathy with neuroserpin inclusion bodies", "disease_name": "Familial Encephalopathy with Neuroserpin Inclusion Bodies", "synonyms": "familial encephalopathy with Collins bodies", "disease-overview": "Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare genetic degenerative disorder affecting the brain and spinal cord, or central nervous system (neurodegenerative disorder). Affected individuals display poor attention and concentration, declining work or academic performance, and language difficulties. Eventually, they experience a decline in their intellectual abilities (dementia). Memory, however, is relatively well-preserved early in the course of the disease compared to the severe memory deficits that are typical of Alzheimer’s disease. Some affected individuals develop additional symptoms such as uncontrolled, irregular muscle contractions and seizures. Changes in mood, such as apathy, depression, or anger frequently occur. Eventually, affected individuals require comprehensive medical care.", "symptoms": "The age of onset, rate of progression, and severity of FENIB varies depending on the specific mutation in the neuroserpin gene. All individuals with a given mutation tend to become symptomatic at approximately the same age and to have similar clinical manifestations. The symptoms of FENIB may become apparent as early as the first decade or as late as the fifth or sixth decade of life. Our knowledge of FENIB is limited by the fact that only a few families with FENIB have been described.", "causes": "FENIB is caused by changes (mutations) of the serine protease inhibitor 1 (SERPINI1) gene. The SERPINI1 gene contains instructions for creating (encoding) a protein known as neuroserpin. Neuroserpin is normally found in nerve cells and, although its exact function is not fully understood, it is believed to play a vital role in the development, repair, and maintenance of the central nervous system. In FENIB, mutant neuroserpin proteins link together (a process called polymerization) to form long chains that entangle and aggregate. Microscopically, these aggregates are observed as distinct inclusions called Collins bodies within the nerve cells. Collins bodies are believed to disrupt the normal functioning of affected nerve cells, eventually causing the symptoms of FENIB. As the disorder progresses, more Collins bodies are formed and a greater portion of the central nervous system is affected. The relationship between the accumulation and deposition of neuroserpin in the form of Collins bodies in individuals with FENIB and the subsequent development of characteristic symptoms is not fully understood. More research is necessary to determine exactly how Collins bodies may damage or injure nerve cells.", "affected": "FENIB affects males and females in equal numbers. Only a few families with this disorder have been reported in the medical literature. FENIB was originally described in the medical literature in 1999. The incidence of FENIB in the general population is unknown. The age of onset of FENIB can be as early as the first decade or as late as the fifth or sixth.", "related-disorders": "Symptoms of the following disorders can be similar to those of FENIB. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of FENIB may be suspected based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms and a variety of specialized tests that can rule out other conditions. Such tests may include brain imaging studies such as magnetic resonance imaging (MRI), computed tomography (CT) scans, a test that measures the electrical activity of the brain (electroencephalogram [EEG]), and neuropsychological assessment. The diagnosis of FENIB is usually confirmed by a physician who specializes in the treatment of neurological disorders. The principal confirmatory test is genetic analysis to identify the causative mutation in the SERPINI1 gene or more rarely the identification of Collins bodies in a brain tissue biopsy specimen.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:901", "name_zh": "韦尔斯综合征", "Name": "Wells syndrome", "disease_name": "Familial Eosinophilic Cellulitis", "synonyms": "Eosinophilic Cellulitis", "disease-overview": "Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, bees, mites, fleas, or ticks (arthropods) are often associated with this skin condition.", "symptoms": "Familial eosinophilic cellulitis is a rare skin disorder.  It sometimes occurs as an exaggerated response to bites of spiders, bees, fleas, ticks, or mites (arthropods), or it may have other causes such as surgery or drugs.  The skin of the person will develop flame shaped patterns of raised, swollen, red areas that are warm to the touch.  The episodes usually come on rapidly. Often, familial eosinophilic cellulitis will recur suddenly over a period of years with swelling and redness developing for no apparent reason. The attack may last up to six weeks and may continue to recur for years.", "causes": "The exact cause of familial eosinophilic cellulitis is still not known.  Some scientists believe that there may be an autoimmune basis for the disorder.  Autoimmune disorders are caused when the body’s natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack perfectly healthy tissue.", "affected": "Familial eosinophilic cellulitis affects males and females in equal numbers.  The disorder is more often found in adults, but it may strike children as well.", "related-disorders": "Symptoms of the following disorders can be similar to those of familial eosinophilic cellulitis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cellulitis is characterized by inflamed tissue of the skin.  Often the skin becomes red, swollen, and painful, over a large area.  There may be accompanying chills and fever. This disorder can be caused by either Group A beta-hemolytic streptococci, or in older persons it is sometimes caused by Group G streptococci.", "therapies": "Standard treatment of familial eosinophilic cellulitis may consist of administration of steroid drugs. However, the disorder often resolves itself after a number of weeks. Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:391665", "name_zh": "纯合家族性高胆固醇血症", "Name": "Familial Hypercholesterolemia", "disease_name": "Familial Hypercholesterolemia", "synonyms": "autosomal dominant hypercholesterolemia", "disease-overview": "", "symptoms": "Heterozygous Familial Hypercholesterolemia", "causes": "Genetics of FH", "affected": "Recent studies have shown that FH is as common as 1 in 250, making it one of the most common genetic diseases. However, most individuals go undiagnosed and most are undertreated given their very high risk. Small subpopulations around the world have a higher incidence, such as Lebanese Christians (1/85), Afrikaners in South Africa (1/72 – 1/100), French Canadians (1/270), and Ashkenazi Jews originating from Lithuania (1/67) known as a founder effect.", "related-disorders": "A diagnosis of FH can be made using any of the accepted standardized diagnostic criteria described in the Diagnosis section. In instances when a diagnosis of FH is suspected but cannot be definitively confirmed with the available information, genetic testing can often aid in the assessment. In 2019, an international expert panel published a consensus paper supporting the utility of FH genetic testing and a statement that genetic testing should be offered as standard of care.", "diagnosis": "FH should be considered in an untreated child with LDL-C above 160 mg/dL, or with LDL-C above 130 mg/dL and a positive family history of FH or premature heart disease. In untreated adults, an LDL-C  above 190 mg/dL, a personal and/or family history of early CAD, physical signs such as those described under Symptoms,  or a relative known to have FH, should increase the suspicion of FH", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2238", "name_zh": "家族性孤立性甲状旁腺功能减退", "Name": "Familial Isolated Hypoparathyroidism", "disease_name": "Familial Isolated Hypoparathyroidism", "synonyms": "FIH", "disease-overview": "Familial isolated hypoparathyroidism is a group of rare genetic disorders characterized by parathyroid glands that do not produce or secrete enough parathyroid hormone to maintain normal mineral balance. The parathyroid glands are part of the endocrine system, the network of glands that regulate the chemical processes within the body controlling essential aspects of human development and metabolism throughout the lifespan. Parathyroid hormone plays a vital role in regulating the levels of calcium, magnesium, and phosphorus in the blood. Parathyroid hormone deficiency causes low levels of calcium and magnesium in the blood (hypocalcemia) and high levels of phosphorous.", "symptoms": "The symptoms of hypoparathyroidism are predominantly due to low levels of calcium in the blood which lead to neuromuscular irritability and manifested by various symptoms which may include numbness, tingling, spasms (tetany) of the hands, feet, or face, and seizures. Other symptoms include fatigue and muscle weakness. The onset of symptoms of familial hypoparathyroidism is usually during early childhood but can occur at any time from birth to adulthood. Seizures during infancy or childhood may be the first sign of the disorder.", "causes": "Familial isolated hypoparathyroidism is caused by variants in genes that directly or indirectly control PTH production or secretion. These genetic variants can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern.1", "affected": "Familial isolated hypoparathyroidism, with the exception of the X-linked form, affects males and females in equal numbers. The X-linked form affects males almost exclusively. The exact incidence and prevalence of these disorders in the general population is unknown. Some mild cases may go unrecognized, making it difficult to determine the true frequency of these disorders.", "related-disorders": "Symptoms of the following disorders can be similar to those of familial isolated hypoparathyroidism. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of familial isolated hypoparathyroidism is made based upon the identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests should include measurement of intact parathyroid hormone, calcium, phosphorous, and magnesium. Additionally, the measurement of urine mineral levels is important to identify the unusual clinical presentation associated with a heterozygous activating CaSR mutation resulting in familial hypercalciuric hypocalcemia. Urine calcium and magnesium levels are elevated in this disorder. Molecular genetic testing may confirm the diagnosis of hypoparathyroidism. This is an important first step in identifying hypoparathyroidism in family members.", "therapies": "Treatment is aimed at raising calcium levels high enough to provide symptom relief without causing abnormally high levels of calcium excretion in the urine (hypercalciuria). Vitamin D analogs and calcium supplements are the conventional FDA approved therapy for all forms of hypoparathyroidism. The main form of active vitamin D used for individuals with hypoparathyroidism is 1,25 OH vitamin D3, calcitriol. Two other synthetic forms of vitamin D that are often used are cholecalciferol and dihydrotachysterol. These forms of vitamin D have a longer duration of action than calcitriol. Many individuals receive a combination of shorter and longer acting vitamin D analogs."}
{"OrphaCode": "ORPHA:309015", "name_zh": "家族性脂蛋白脂酶缺乏症", "Name": "Familial lipoprotein lipase deficiency", "disease_name": "Familial Lipoprotein Lipase Deficiency", "synonyms": "familial LPL deficiency", "disease-overview": "", "symptoms": "Most cases of familial LPL deficiency are identified during childhood, usually before the age of 10. In approximately 25 percent of patients, the disorder is identified during the first year of life. Some affected individuals may not be identified until adulthood. For example, some women may not be diagnosed until after becoming pregnant or when they begin taking contraceptive medication.", "causes": "Familial LPL deficiency is caused by changes (mutations) in the LPL gene. The LPL gene contains instructions for creating (encoding) an enzyme known as lipoprotein lipase. This enzyme is essential for the proper breakdown of certain fats in the body. Fat is obtained through the diet and is absorbed by the intestines. It is transported in the form of triglyceride by large lipoproteins known as chylomicrons. (Triglycerides are fatty molecules that are used by the cells of the body for fuel.) When chylomicrons are released into the bloodstream, a protein within chylomicrons called apolipoprotein C2 is activated. This protein is recognized by the enzyme lipoprotein lipase, ultimately resulting in the breakdown of triglyceride. When lipoprotein lipase is inadequate or impaired, chylomicrons accumulate in the plasma, which, in turn, causes abnormal amounts of triglyceride to accumulate in the plasma as well. The accumulation of excess.", "affected": "Familial LPL deficiency affects males and females in equal numbers. It is estimated to occur in approximately 1 in 250,000 people in the general population and has been described in all races. The prevalence is much higher in Quebec, Canada due to a founder effect. A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a particular genetic trait.", "related-disorders": "Symptoms of the following disorders can be similar to those of familial LPL deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of familial LPL deficiency may be suspected based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and certain tests including blood tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:342", "name_zh": "家族性地中海热", "Name": "Familial Mediterranean fever", "disease_name": "Familial Mediterranean Fever", "synonyms": "familial paroxysmal polyserositis", "disease-overview": "", "symptoms": "The symptoms and severity of FMF can vary greatly from one person to another, even among members of the same family.", "causes": "FMF is caused by changes (disease-causing variants) of the MEFV gene. More than 400 different variants of the MEFV gene have been identified, although only four are clearly disease-causing (pathogenic). They are recorded on a dedicated website https://infevers.umai-montpellier.fr/web/.", "affected": "FMF can affect individuals of any ethnic group, but the rates are much higher for certain Mediterranean populations including individuals of Armenian, Turkish, Arabic and North African Jewish descent. In these populations, the prevalence is estimated to be 1 in 200.", "related-disorders": "Symptoms of the following disorders can be similar to those of FMF. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of FMF is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. These tests can aid in obtaining a diagnosis of FMF or in assessing the extent of the disorder. Prompt diagnosis in FMF is important to avoid misdiagnosis and unnecessary surgery (as many children are misdiagnosed as having appendicitis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98306", "name_zh": "家族性部分脂肪营养不良", "Name": "Familial partial lipodystrophy", "disease_name": "Familial Partial Lipodystrophy", "synonyms": "FPL", "disease-overview": "", "symptoms": "FPL encompasses several subtypes differentiated by the underlying genetic mutation. The specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of FPL and the presence and extent of associated symptoms. The specific symptoms and severity can also vary among individuals with the same subtype and even among members of the same family. In addition, some subtypes of FPL have only been reported in a handful of individuals, which prevents physicians from developing an accurate picture of associated symptoms, severity, and prognosis. Therefore, it is important to note that affected individuals will not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.", "causes": "FPL is caused by mutations of specific genes. So far, mutations in five genes that cause FPL have been identified including the LMNA gene, which causes FPL2, Dunnigan variety; the PPARG gene, which causes FPL3; the PLIN1 gene, which causes FPL4; the AKT2 gene, which cases FPL5; and the CIDEC gene, which causes autosomal recessive FPL. The gene that causes FPL1, Kobberling variety has not been identified. Some individuals with FPL do not have mutations in any of these genes, suggesting that additional, as yet unidentified genes can cause the disorder.", "affected": "FPL is a rare disorder that has been reported in women more often than in men. This may be due to ascertainment bias because women are more severely affected and more easily recognized. The prevalence of FPL is estimated to be 1 in 1,000,000 people in the general population. However, many cases may go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of the disorder in the general population. The majority of individuals reported in the medical literature have been of European descent. The disorder has also been reported individuals of African and Asian Indian descent.", "related-disorders": "Symptoms of the following disorders can be similar to those of FPL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of FPL is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A diagnosis of FPL should be suspected in individuals who lose subcutaneous fat around puberty and gain a muscular appearance. Lipodystrophy, in general, should be suspected in individuals who are lean or non-obese and who present with early diabetes, severe hypertriglyceridemia, hepatic steatosis, hepatosplenomegaly, acanthosis nigricans and/or polycystic ovarian syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71290", "name_zh": "家族性血小板疾病伴相关髓系恶性肿瘤", "Name": "Familial platelet disorder with associated myeloid malignancy", "disease_name": "Familial Platelet Disorder with Associated Myeloid Malignancy", "synonyms": "familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML)", "disease-overview": "", "symptoms": "Common signs and symptoms of FPD/AML relate to the impact of inherited RUNX1 mutations on platelets and the increased likelihood of developing MDS and/or AML. Platelets are a type of blood cell that are made by specialized cells in the bone marrow (megakaryocytes). Platelets are an important component of our blood and their main function is to help to stop bleeding and form clots. This process is known as hemostasis.", "causes": "FPD/AML is caused by inherited alterations (mutations) is the RUNX1 gene, located on chromosome 21. The RUNX1 gene is responsible for production of the RUNX1 protein.", "affected": "FPD/AML is a very rare disorder with an unknown incidence and prevalence. To date, more than 70 FPD/AML families (pedigrees) with inherited RUNX1 mutations have been identified. Patients with FPD/AML have a lifetime risk of approximately 35-40% of developing MDS and/or AML. The average age of onset of MDS or AML is 33 years but has also occurred in patients as young as 6 years and as old as 77 years. Males and females seem to be equally affected and there is no known racial predilection.", "related-disorders": "Patients with FPD/AML with inherited RUNX1 mutations often have mild to moderately low levels of platelets resulting in symptoms like those seen in immune thrombocytopenia (ITP). ITP is an autoimmune disorder characterized by a low platelet count and symptoms of easy bruising and bleeding. A normal platelet count ranges between approximately 100,000 to 400,000 per microliter of blood. ITP is suspected when a person’s platelet count is persistently below 100,000 per microliter of blood and no other cause has been found. The lower the platelet count, the higher the risk of bleeding. Patients with ITP often present to their doctor with symptoms and signs of bleeding into the skin causing bruising (ecchymosis), small red spots (petechiae), or larger red or purple patches (purpura), or bleeding from the nose (epistaxis), gums, or heavy vaginal bleeding. There are no definitive tests to diagnose ITP so it remains a diagnosis of exclusion, meaning that no other cause for the low platelet count has been found. Treatment of ITP depends on a number of factors including how severe the symptoms are, the platelet count, the patient’s age, the patient’s lifestyle, and personal preferences. (For more information on this disorder, choose Immune Thrombocytopenia as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of FPD/AML is based on clinical suspicion following a thorough clinical history, physical examination, specialized blood tests, and confirmed through genetic testing detecting mutations in the RUNX1 gene. Persons newly diagnosed with AML or MDS, especially at a relatively young age, who have a history of low or abnormally functioning platelets or those with a family history of AML, MDS or other hematologic malignancies such as T-ALL or CMML may be referred for specialist evaluation and genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:84", "name_zh": "范科尼贫血", "Name": "Fanconi anemia", "disease_name": "Fanconi Anemia", "synonyms": "Fanconi pancytopenia", "disease-overview": "", "symptoms": "The symptoms of FA vary from person to person. Identified symptoms include a variety of physical abnormalities, bone marrow failure, and an increased risk of malignancy. Physical abnormalities normally reveal themselves in early childhood, but in rare cases diagnoses are made in adulthood. Blood production problems often develop between 6 to 8 years of age. Bone marrow failure eventually occurs in the majority of affected individuals, although the progression and age of onset vary. Patients who live into adulthood are likely to develop head and neck, gynecologic, and/or gastrointestinal cancer at a much earlier age than the general population, whether or not they had earlier blood problems.", "causes": "The chromosomes within the cells of individuals with FA are unable to repair deoxyribonucleic acid (DNA) damage, and thus break and rearrange easily (chromosome instability). DNA is the carrier of the genetic code and damage to DNA is a normal daily occurrence. In most people, damage to DNA is repaired. However, in individuals with FA, breaks and rearrangements occur more often and their bodies are slow or fail to repair the damage.", "affected": "The incidence rate of FA is estimated to be about 1 in 136,000 births. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans.", "related-disorders": "Symptoms of the following disorders may be similar to those of FA. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of FA is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:466", "name_zh": "致死性家族性失眠症", "Name": "Fatal Familial Insomnia", "disease_name": "Fatal Familial Insomnia", "synonyms": "FFI", "disease-overview": "", "symptoms": "The characteristic symptom in FFI is progressive insomnia. Insomnia often begins during middle age, but it can occur earlier or later in life. Insomnia may first be mild, but it then becomes progressively worse until an affected individual gets very little sleep. Insomnia usually begins suddenly and can rapidly worsen over the next few months. When sleep is achieved, vivid dreams may occur. The lack of sleep leads to physical and mental deterioration and the disease ultimately progresses to coma and death.", "causes": "FFI is caused by an abnormal variant (gene mutation) of the PRNP gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent or overproduced. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain.", "affected": "FFI is an extremely rare disorder. The exact incidence and prevalence of the disorder is unknown. The sporadic form of FFI, known as sporadic fatal insomnia (SFI), is extremely rare and has only been described in the medical literature in a few dozen people. Collectively, prion disorders affect 1 to 2 persons per million people in the general population per year. Genetic prion diseases are thought to make up about 15% of all individuals with prion diseases. Because rare diseases often go undiagnosed or misdiagnosed, it is difficult to determine their true frequency in the general population. FFI affects males and females in equal numbers. The average age of onset is 45-50 years old, although the disorder has been described in individuals in their teens and as late as their 70s. FFI has been described in populations around the world.", "related-disorders": "Symptoms of the following disorders can be similar to those of FFI. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of FFI is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:47612", "name_zh": "Felty综合征", "Name": "Felty syndrome", "disease_name": "Felty Syndrome", "synonyms": "Splenomegaly with Rheumatoid Arthritis", "disease-overview": "Felty syndrome is usually described as associated with or a complication of rheumatoid arthritis. This disorder is generally defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (spenomelgaly) and a low white blood cell count (neutropenia). The presence of RA gives rise to painful, stiff and swollen joints. A low white blood cell count, especially when accompanied by an abnormally large spleen, leads to a greater chance for infections. Other symptoms associated with Felty syndrome may include fatigue, fever, weight loss, and/or discoloration of patches of skin (brown pigmentation). The exact cause of Felty syndrome is unknown. It is believed to be an autoimmune disorder that may be genetically transmitted as an autosomal dominant trait.", "symptoms": "The symptoms of Felty syndrome are similar to those of rheumatoid arthritis.  Patients suffer from painful, stiff, and swollen joints, most commonly in the joints of the hands, feet, and arms.  In some affected individuals, Felty syndrome may develop during a period when the symptoms and physical findings associated with rheumatoid arthritis have subsided or are not present.  In this case, Felty syndrome may remain undiagnosed.  In more rare instances, the development of Felty syndrome may precede the development of the symptoms and physical findings associated with rheumatoid arthritis.", "causes": "The exact causes of Felty syndrome are not clear at this time.  Scientists believe that the blood cell abnormalities, an allergy, or some unknown immunity disturbance may lead to the frequent infections that are commonly associated with this disorder.  These clinicians think that Felty syndrome may be an autoimmune disorder.  Autoimmune disorders occur when the body’s natural defenses (antibodies) against invading or foreign organisms begin to attack the body’s own tissue, often for unknown reasons.", "affected": "It is estimated that 1 to 3 percent of all patients with rheumatoid arthritis are affected by Felty syndrome.  This is a large number, but most of these go undiagnosed.  The disorder is about three times more common in women than in men.  Felty syndrome is not found as frequently among those of African descent as among Caucasian populations. The disorder generally affects persons 50 to 70 years of age.", "related-disorders": "The differential diagnosis of Felty syndrome may include sarcoidosis, amyloidosis, reactions to certain drugs, and/or myeloproliferative disorders.  (For more information on these disorders, choose Sarcoidosis or Amyloidosis as your search term in the Rare Disease Database.)", "diagnosis": "Felty syndrome is usually diagnosed as a result of a thorough clinical evaluation, a detailed patient history, and the identification of the classic triad of physical findings (i.e. the presence of rheumatoid arthritis, low white blood count, and splenomegaly).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1988", "name_zh": "股-面综合征", "Name": "Femoral Facial Syndrome", "disease_name": "Femoral Facial Syndrome", "synonyms": "femoral dysgenesis, bilateral", "disease-overview": "", "symptoms": "Femoral facial syndrome is a rare disorder characterized by underdeveloped thigh bones (femurs) and unusual facial characteristics. It presents with a very broad range and variety of symptoms. One source lists 31 clinical signs, classified as very frequent, relatively frequent and less frequent.", "causes": "The exact cause of femoral facial syndrome is not known. Most cases of this disorder occur for no apparent reason (sporadically). However, there have been at least two reported cases of affected relatives that are thought to have been inherited as an autosomal dominant pattern.", "affected": "Femoral facial syndrome is a very rare disorder that seems to affect more males than females. As of 1993, about 55 patients had been reported and one-third of are associated with maternal diabetes.", "related-disorders": "Symptoms of the following disorders can be similar to those of femoral facial syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79230", "name_zh": "血色素沉着病2型", "Name": "HJV or HAMP-related hemochromatosis", "disease_name": "Ferroportin Disease", "synonyms": "hemochromatosis type 4", "disease-overview": "Ferroportin disease, also known as hemochromatosis type 4, is a rare genetic disorder characterized by the abnormal accumulation of iron in the body. Ferroportin disease is caused by changes (variants or mutations) of the SLC40A1 gene. The specific symptoms associated with ferroportin disease can vary greatly from one person to another. Some individuals may only have elevated levels of ferritin, a protein that binds to iron and is used as an indicator of the body’s iron stores in the blood plasma. Other individuals may develop symptoms similar to classic HFE-related hemochromatosis.", "symptoms": "The symptoms of ferroportin disease vary greatly from one person to another. Researchers believe that different variants in the SLC40A1 gene are associated with different symptoms. Generally, ferroportin disease is separated into two main forms.", "causes": "Ferroportin disease is caused by variants in the SLC40A1 gene. The SLC40A1 gene contains instructions for creating ferroportin, a specialized protein that is crucial to the proper export of iron from cells. Ferroportin also plays a role in the proper breakdown (metabolism) of iron. Iron is a critical mineral that is found in all cells of the body and is essential for the body to function and grow properly. Iron is found in many types of food including red meat, poultry, eggs and vegetables. Iron levels must remain in a specific range within the body, otherwise they can cause anemia (due to low iron levels) or damage affected organs (due to high iron levels).", "affected": "Ferroportin disease affects males and females in equal numbers. The exact incidence of ferroportin disease is unknown. Researchers believe that the disorder occurs more frequently than has been reported in the medical literature. Ferroportin affects individuals of all races and ethnicities. Some researchers believe that ferroportin disease is the most common form of hereditary iron overload after classic (type 1 or HFE-related) hemochromatosis.", "related-disorders": "Symptoms of the following disorders can be similar to those of ferroportin disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ferroportin disease is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A family history with affected individuals in successive generations is highly suggestive (autosomal dominant inheritance). Blood tests can reveal certain findings associated with ferroportin disease including high levels of ferritin in the blood and, in the milder form of the disease, low or normal saturation of transferrin, another protein that plays a role in the proper transport of iron within the body. Molecular genetic testing for variants in the SLC40A1 gene is available and necessary to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:853", "name_zh": "胎儿和新生儿同种免疫性血小板减少症", "Name": "Fetal and neonatal alloimmune thrombocytopenia", "disease_name": "Fetal and Neonatal Alloimmune Thrombocytopenia", "synonyms": "FNAIT", "disease-overview": "", "symptoms": "Signs and symptoms of FNAIT vary depending on how low the platelet levels drop in the baby due to increased platelet destruction and reduced platelet production. Signs and symptoms may occur before birth or up to four weeks after birth.", "causes": "FNAIT occurs when a mother makes antibodies that destroy her baby’s platelets. A mother’s immune system may target her child’s platelets when they contain an antigen inherited from the child’s father that the mother does not have. An antigen is an identifying tag on a cell that all individuals have. The presence of the tag signals the immune system to make antibodies specific to the tag. Those antibodies then turn on the immune system to destroy the foreign cell. When this is the case, the mother’s immune system recognizes her child’s platelets as foreign and mounts an immune response against them. Common platelet antigens in Caucasians with FNAIT are human platelet antigen (HPA)-1a and HPA-5b. Other platelet antigens exist and may include HPA-2, HPA-3, HPA-4 and HPA-15. The mother’s antibodies that attack these antigens are known as anti-HPA antibodies. The HPA-1 antigen is involved in 80-90% of FNAIT cases, and FNAIT associated with anti-HPA-1a antibodies is usually more severe.", "affected": "FNAIT is the most frequent cause of thrombocytopenia in newborns with an estimated incidence of 1 in 1,500 pregnancies. Fetal intracranial hemorrhage (ICH) associated with FNAIT is estimated to occur in 1 in 10,000 pregnancies.", "related-disorders": "Other disorders can cause thrombocytopenia in a fetus or newborn. This can occur in autoimmune thrombocytopenia where the mother makes antibodies to her own platelets that may also attack her baby’s platelets if they carry the same antigen as her own. Autoimmune thrombocytopenia can occur when a mother has a disease such as idiopathic thrombocytopenic purpura, systemic lupus erythematosus or hyperthyroidism. Symptoms associated with autoimmune thrombocytopenia are typically milder than those of FNAIT and may include petechiae and purpura that appear several days after delivery.", "diagnosis": "FNAIT is not routinely screened for during pregnancy and is thought to be underdiagnosed. Babies are screened for FNAIT when they have older siblings who have had it, but for firstborn children with FNAIT, diagnosis is not made until further testing after birth, usually after the baby has developed widespread skin petechiae and thrombocytopenia.", "therapies": "Treatment differs depending on the timing of diagnosis (fetus or newborn). Because of the risk of severe complications like ICH, treatment in a newborn found to have severe thrombocytopenia should begin before diagnostic test results confirm FNAIT."}
{"OrphaCode": "ORPHA:1912", "name_zh": "胎儿乙内酰脲综合征", "Name": "Fetal hydantoin syndrome", "disease_name": "Fetal Hydantoin Syndrome", "synonyms": "Dilantin embryopathy", "disease-overview": "", "symptoms": "The specific symptoms and physical features associated with fetal hydantoin syndrome can vary greatly from one infant to another. Symptoms may not be noticeable at birth (congenital), but will become apparent as an affected child grows older.", "causes": "Maternal use of anti-seizure medications such as phenytoin, which is often used to treat epileptic seizures, can result in multiple effects on the developing embryo and fetus, including fetal hydantoin syndrome. The specific amount of phenytoin ingestion required to cause the disorder has not been determined. Phenytoin is often given with other anti-seizure drugs and other (adjunct) medications that may influence development of the disorder. Fetal hydantoin syndrome may be caused by a combination of specific genetic and environmental factors.", "affected": "Fetal hydantoin syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown. Studies have suggested that approximately 5%-10% of infants exposed to phenytoin during pregnancy will develop fetal hydantoin syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of fetal hydantoin syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "There is no diagnostic testing that can identify fetal hydantoin syndrome. A diagnosis is made clinically based upon identification of characteristic symptoms in an affected infant in conjunction with a history of phenytoin exposure during gestation. It is important to note that the majority of infants born to women who take phenytoin during pregnancy will not develop fetal hydantoin syndrome.", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:2305", "name_zh": "异维甲酸综合征", "Name": "Fetal Retinoid Syndrome", "disease_name": "Fetal Retinoid Syndrome", "synonyms": "Accutane embryopathy", "disease-overview": "Fetal retinoid syndrome is a pattern of mental and physical birth defects (congenital malformations) that can result from a mother taking retinoids during pregnancy. The absolute risk of congenital malformations following oral isotretinoin therapy is currently unclear. Overall malformation rates in liveborn infants from prospectively reported pregnancies range from 5% to 20%.", "symptoms": "Characteristic features of infants with fetal retinoid syndrome include abnormalities of the craniofacial region, CNS and cardiovascular system. The specific symptoms and physical findings can vary from one infant to another. Affected infants may not have all the symptoms listed below.", "causes": "Maternal use of synthetic vitamin A (retinoids) such as isotretinoin (Accutane) during pregnancy can result in multiple effects on the developing embryo and fetus including miscarriage, premature delivery and a variety of birth defects. Commercially available isotretinoin brand products include, Absorica, Amnesteem, Claravis, Myorisan and Zenatane; as well as various types of generics available globally.", "affected": "Fetal retinoid syndrome affects males and females in equal numbers. The exact incidence of fetal retinoid syndrome is unknown and because many children with fetal retinoid syndrome often go unrecognized. The disorder is under-diagnosed, making it difficult to determine the true frequency of the disorder in the general population.", "related-disorders": "", "diagnosis": "Confirmed diagnosis of fetal retinoid syndrome is made following clinical examination of an affected infant in conjunction with a history of retinoid exposure during pregnancy.", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:1906", "name_zh": "胎儿丙戊酸盐综合征", "Name": "Fetal valproate spectrum disorder", "disease_name": "Fetal Valproate Syndrome", "synonyms": "valproic acid embryopathy", "disease-overview": "", "symptoms": "The use of VPA as a single drug (monotherapy) in the first trimester of pregnancy was associated with significantly increased risks of major and minor malformations, including a 20-fold increase in neural tube defects (NTDs) such as spina bifida, cleft lip and palate, cardiovascular abnormalities, genitourinary defects, developmental delay, endocrine disorders, limb defects, and autism as compared with no-use of antiepileptic drugs (AEDs) or with use of other AEDs.", "causes": "FVS is a rare condition that may occur when a baby is exposed to VPA (brand names include Depakene, depakine, convulex, depakote, encorate, valpakine, etc) during the first trimester. It is believed that VPA crosses the placenta and interferes with normal development causing developmental abnormalities in the fetus (teratogenesis).", "affected": "FVS affects males and females in equal numbers. There is a 20-fold increase in neural tube defects, cleft lip and palate, cardiovascular abnormalities, genitourinary defects, developmental delay, endocrine disorders, limb defects, and autism, when VPA is used during the 1st trimester of pregnancy compared to no use of antiepileptic drugs.", "related-disorders": "Fetal abnormalities caused by other antiepileptic drugs may be similar to those of FVS. The determining factor is the identification of the drugs the mother was taking during the first three months of pregnancy.", "diagnosis": "Fetal hydantoin syndrome is a characteristic pattern of mental and physical birth defects that results from maternal use of the antiepileptic drug phenytoin (Dilantin) during pregnancy. (For more information on this disorder choose Fetal hydantoin syndrome as your search term in the Rare Disease Database.)", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:93932", "name_zh": "FG综合征1型", "Name": "FG Syndrome Type 1", "disease_name": "FG Syndrome Type 1", "synonyms": "FGS1", "disease-overview": "FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), intellectual disability, constipation and or anal anomalies and complete or partial absence of the part of the brain that connects the two hemispheres of the brain (corpus callosum). Other features of the disorder are small and simple ears, tall and prominent forehead, wide and flat thumbs and great toes and down slanting eyes. FGS1 is an X-linked genetic disorder typically caused by a change (variant or mutation) in the MED12 gene. The spectrum of disorders caused by variants in this gene is still being defined. Some individuals previously diagnosed with FGS1 do not have a MED12 gene variant and, therefore, probably have a different reason for intellectual disability.", "symptoms": "FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), intellectual disability, constipation and or anal anomalies and complete or partial absence of the part of the brain that connects the two hemispheres of the brain (corpus callosum). Other features of the disorder are small and simple ears, tall and prominent forehead, wide and flat thumbs and great toes and down slanting eyes. Additional features may include a large head (macrocephaly), widely spaced eyes (ocular hypertelorism) and upswept frontal hair. Seizures and congenital heart defects have also been reported.", "causes": "FGS1 is typically caused by a variant in the MED12 gene on the X chromosome located at Xq13.1. The MED12 gene is responsible for production of the MED12 (TRAP230) protein that is involved in the regulation of transcription.", "affected": "The prevalence of FGS1 is unknown. The spectrum of disorders caused by variants in this gene is still being defined. Some individuals previously diagnosed with FGS1 do not have a MED12 gene variant and, therefore, probably have a different reason for intellectual disability.", "related-disorders": "Symptoms of the following disorders can be similar to those of FGS1 syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lujan syndrome is an X-linked genetic disorder in the spectrum of disorders caused by variants in the MED12 gene. This condition is characterized by intellectual disability, hypotonia, large head, tall and thin body, long and thin face and high and narrow palate. Additional features that may be present include small jaw, long hands with hyperextensible digits, abnormalities of the corpus callosum and nasal speech.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97566", "name_zh": "非淀粉样纤维样肾小球病", "Name": "Fibrillary Glomerulonephritis ", "disease_name": "Fibrillary Glomerulonephritis ", "synonyms": "fibrillary GN", "disease-overview": "", "symptoms": "The most common symptoms of fibrillary glomerulonephritis include:", "causes": "The causes of fibrillary glomerulonephritis are currently unknown and are being researched. Antibodies (immunoglobulins) build up in the glomerulus, often in patients with an underlying disease such as cancer (particularly leukemia, lymphoma and multiple myeloma), a monoclonal gammopathy or an autoimmune disease (Crohn’s disease, Graves’ disease, immune thrombocytopenia, etc.).", "affected": "Patients with a history of cancer (particularly leukemia or multiple myeloma), a monoclonal gammopathy or an autoimmune disease (particularly Crohn’s disease, lupus, Graves’ disease, or immune thrombocytopenia [ITP]) are at risk for fibrillary glomerulonephritis.", "related-disorders": "Immunotactoid glomerulopathy – a similar disease in which antibodies (immunoglobulins) and microtubules affect the glomerulus rather than fibrils.", "diagnosis": "A diagnosis is made from a kidney biopsy to look at the fibrils under an electron microscope and immunofluorescence microscope. Routine lab tests may detect the blood and protein in the urine, but a biopsy is the only way to determine which proteins are affecting the glomerulus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:337", "name_zh": "进行性骨化性纤维发育不全", "Name": "Fibrodysplasia ossificans progressiva", "disease_name": "Fibrodysplasia Ossificans Progressiva", "synonyms": "FOP", "disease-overview": "Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons and skeletal muscles. Specifically, this disorder causes the body’s skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible. Patients with FOP have malformed big toes that are present at birth (congenital). Other skeletal malformations may occur. The abnormal episodic development of bone at multiple soft tissue sites leads to stiffness in affected areas, limited movement and eventual fusion (ankylosis) of affected joints (neck, back, shoulders, elbows, hips knees, wrists, ankles, jaw – often in that order).", "symptoms": "All individuals with classic FOP have malformations of the great toes and, in approximately 50% of patients, the thumbs. These changes in the skeleton are present at birth (congenital) and are the first clinical signs of this disorder. The most common skeletal malformation associated with FOP is a shortened great toe with a malformed distal first metatarsal and a missing or abnormal first phalanx and/or interphalangeal joint. Other malformations of the toes and fingers may include inward turning of the great toe toward the other toes (hallux valgus), abnormally short fingers and toes (microdactyly) and/or permanent fixation of the fifth finger in a bent position (clinodactyly). Other congenital signs of FOP include proximal medial tibial osteochondromas, malformation of the upper part of the spinal column (cervical vertebrae) and an abnormally short broad neck of the bone in the thigh that extends from the knee to the pelvis (femur).", "causes": "Most cases of FOP occur sporadically, and there is a single affected individual within a family. When a familial pattern has been identified, FOP is inherited in an autosomal dominant pattern.", "affected": "FOP is a very rare inherited connective tissue disorder that was first identified in the 18th century. The prevalence of FOP is estimated to be 1/1,000,000. FOP affects males and females equally, and people from all ethnicities.", "related-disorders": "Symptoms of the following disorders may be similar to those of fibrodysplasia ossificans progressiva. Comparisons may be useful for differential diagnosis:", "diagnosis": "Aggressive juvenile fibromatosis is a condition in which cells called fibroblasts increase in number in tendons, ligaments and other connective tissues. This overgrowth of cells may invade adjacent tissues, causing pain and disability. The resulting lesions may resemble the tissue swelling associated with FOP. However, individuals with aggressive juvenile fibromatosis do not have the toe malformation that is associated with FOP, nor do they develop heterotopic ossification.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:401920", "name_zh": "纤维板层肝细胞癌", "Name": "Fibrolamellar Carcinoma", "disease_name": "Fibrolamellar Carcinoma", "synonyms": "fibrolamellar carcinoma or cancer (FLC)", "disease-overview": "Fibrolamellar carcinoma is a rare form of cancer that affects the liver. Unlike most cancers of the liver, it occurs with greater frequency in adolescents and young adults who are otherwise healthy. There are often no symptoms or signs of the disorder for a long time. Symptoms that can develop include abdominal pain, unintended weight loss, and a general feeling of poor health (malaise). Treatment is usually through surgical removal (resection) of the tumor. When surgery is not possible or is unsuccessful, then other therapies may be considered. Recurrence following successful surgical removal of a tumor can occur, meaning that sometimes the tumor can come back after it was removed. The exact, underlying cause of this disorder is unknown.", "symptoms": "The signs and symptoms usually arise with advanced disease. For many years, affected individuals may not have any noticeable signs or symptoms (asymptomatic) because they are otherwise healthy. Initial symptoms are nonspecific, which means they can be seen in a variety of different medical conditions. Every person is unique and how this disorder affects one person can be different from how it affects another person. Fibrolamellar carcinoma may not cause problems for many, many years or it can be aggressive, quickly spreading locally or spreading to other parts of the body (metastasizing).", "causes": "As with many forms of cancer, the exact, underlying cause of fibrolamellar carcinoma is unknown. Researchers speculate that multiple factors including genetic and environmental ones play a role in the disorder’s development. Current research suggests that abnormalities of DNA (deoxyribonucleic acid), which is the carrier of the body’s genetic code, are the underlying basis that causes cells to become malignant.", "affected": "Fibrolamellar carcinoma is an ultra rare form of cancer. It affects both men and women and affects approximately 1 in 5,000,000 people in the general population.  Fibrolamellar carcinoma occurs with greater frequency among young adults with a median age of diagnosis of 25. It is found all over the world and the rate of occurrence can vary geographically. The disorder accounts for about 1% of all people with primary liver cancer in the United States, but accounts for about 5.8 percent of all people with primary liver cancer in Mexico.", "related-disorders": "Symptoms of the following disorders can be similar to those of fibrolamellar carcinoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of fibrolamellar carcinoma is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. A diagnosis of fibrolamellar carcinoma can be difficult because symptoms may be nonspecific and can be caused by many different types of disorders. Because the disorder occurs in young adults, a diagnosis of cancer is usually not suspected initially until many other more common conditions are ruled out.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:336", "name_zh": "欧洲非罕见：动脉肌纤维发育不良", "Name": "Fibromuscular Dysplasia", "disease_name": "Fibromuscular Dysplasia", "synonyms": "FMD", "disease-overview": "Fibromuscular dysplasia, commonly called FMD, is a disease that causes one or more arteries in the body to have abnormal cell development in the artery wall. As a result, areas of narrowing (stenosis), aneurysms, or tears (dissection) may occur. If narrowing or a tear causes a decrease in blood flow through the artery, symptoms may result. FMD is most commonly found in the arteries that supply the kidneys with blood (renal arteries) and the arteries called the carotid and vertebral arteries which are found in the neck and supply the brain with blood. Less commonly, FMD affects the arteries in the abdomen (supplying the liver, spleen and intestines) and extremities (legs and arms). In more than one-half of people with this disease, there will be evidence of FMD in more than one artery.", "symptoms": "Some people with this disease do not have symptoms or findings on a physical examination. The signs and/or symptoms that a person with FMD may experience depend on the arteries affected and whether there is narrowing, tears, or aneurysms within them. Any pain or clinical sign related to FMD typically comes from the organ that is supplied by that artery. For example, FMD in the kidney arteries may cause high blood pressure. FMD in the carotid arteries may cause headaches or a swooshing sound in the ears (called pulsatile tinnitus). Some patients with FMD may have no symptoms at all but are diagnosed with this disease when a physician hears a noise over one of the arteries due to disturbed or turbulent blood flow within the vessel. This noise is known as a bruit.", "causes": "The cause of FMD is not yet known, but several theories have been suggested. A number of case reports in the literature have identified the disease in multiple members of the same family including twins. As a result, it is felt that there may be a genetic cause. However, a relative may have different artery involvement, different disease severity, or not develop FMD at all. In fact, most individuals with FMD do not have a family member who also has the disease. Among some individuals with FMD, there is a family history of other vascular problems, such as blood vessel aneurysms.", "affected": "FMD affects women far more commonly than men, although men and children can be affected with this disease. In children with FMD, the disease seems to more commonly present with significant narrowing rather than tears of arteries and also seems to involve the arteries to the kidneys and intestines more commonly than the carotid vessels. In the pediatric population, FMD affects both boys and girls.", "related-disorders": "The vascular subtype of Ehlers-Danlos syndrome (type IV) has been associated with the most common type of fibromuscular dysplasia, known as multifocal FMD. This syndrome should be suspected in patients with multiple aneurysms and/or tears (dissections) in arteries in addition to the typical angiographic findings of fibromuscular dysplasia. There have been isolated reports of fibromuscular dysplasia associated with other disorders, including Alport syndrome, pheochromocytoma, Marfan syndrome, and moyamoya disease. (For more information on these disorders, search for the term in the Rare Disease Database.)", "diagnosis": "In order to diagnosis FMD, a test must be done to image the blood vessels. There are many options for imaging the arteries, including specialized blood vessel ultrasound known as duplex ultrasound; a CAT scan of the arteries which is obtained after a dye is given through the veins, or a special type of MRI. In many cases, the diagnosis of FMD requires that a procedure known as an arteriogram be performed. Arteriography is a procedure that is performed by a radiologist, vascular surgeon, cardiologist, or vascular medicine specialist with appropriate training. It involves inserting a wire into or near the affected artery and injecting contrast material, a dye that can be detected by an X-ray machine. An X-ray of the affected area is then taken and examined. The individual is usually awake during an arteriogram procedure although medications may be given to keep her or him comfortable. This outpatient procedure usually lasts from one to two hours with a recovery period of up to six hours (this varies widely).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:63999", "name_zh": "IgG4相关性纵隔炎", "Name": "IgG4-related mediastinitis", "disease_name": "Fibrosing Mediastinitis", "synonyms": "mediastinal fibrosis", "disease-overview": "Fibrosing mediastinitis (FM) is a rare disease characterized by dense invasive fibrotic infiltration of the mediastinum (middle portion of the chest, situated between the lungs) and/or hilar regions (areas between the upper and lower lobes of each lung) of the chest causing narrowing or occlusion of important chest structures, including pulmonary arteries, pulmonary veins, the superior vena cava, airways/bronchi, or the esophagus. Because of the vital nature of these structures, this slowly progressive disease is associated with significant morbidity and can be fatal if it affects both lungs.", "symptoms": "Typically, people with PHFM were originally exposed/infected with H. capsulatum as children but the symptoms begin in most patients in the third or fourth decade of life. No evidence suggests an association with specific ancestry or gender. Patients may present with shortness of breath (dyspnea), fatigue or loss of stamina, cough with blood (hemoptysis) or without, chronic chest (pleuritic) pain, recurrent pulmonary infections or pneumonias, difficulty swallowing (dysphagia), or swelling of the arms and face. These symptoms most commonly occur because there is an occlusion or critical narrowing of one of the main vessels in the chest, such as the superior vena cava (the vein which returns blood from the head, neck, and arms the heart), pulmonary arteries, and/or pulmonary veins. Superior vena cava (SVC) syndrome, characterized by face and arm swelling due to obstruction of the vena cava, is a common symptom. Some patients do not develop this syndrome despite having obstruction of the SVC because collateral alternative veins (sometimes visible on the anterior chest) enlarge sufficiently to bypass the SVC as it becomes slowly obstructed and successfully return blood to the heart. Cough and shortness of breath are the most common symptoms when obstruction of a central airway occurs. Pulmonary venous obstruction usually presents with shortness of breath, coughing blood, or sometimes collection of fluid in the space between the lung and the chest wall (pleural effusion). Symptoms can be present for years before diagnosis.", "causes": "In the majority of patients, FM is triggered by the body’s abnormal excessive immune reaction to prior exposure to Histoplasma capsulatum, a fungus found in soil in endemic areas, most notably along the Mississippi and Ohio River valleys in the United States. The fungus resides in the soil, becomes airborne when the soil is disturbed, and is subsequently inhaled. Histoplasma is also associated with bird and bat droppings, the former of which do not appear to become infected by the fungus but may carry the fungus on their feathers, while the GI tracts of the latter may become colonized with the fungus.", "affected": "Of the entire population who are exposed to Histoplasma, only a tiny fraction (far fewer than 1%) develop the excessive response to the fungal infection that is the basis of PHFM. Of the many millions of people with repeated exposures to Histoplasma while living in endemic areas, the vast majority never develop symptomatic histoplasmosis, and far fewer go on to develop PHFM. It is estimated that there are only a few hundred cases of PHFM in the United States. At Vanderbilt University Medical Center, a referral center for this condition in an endemic area, approximately 10 new cases have been evaluated annually over the last few decades. PHFM is seen only in individuals who lived in an endemic region sometime during their life. Idiopathic FM is believed to be even rarer, with an estimated several dozen cases known in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to, or caused by, FM. Others may have a similar radiographic appearance as FM leading to misdiagnosis. Understanding of each condition may be critical for correct diagnosis.", "diagnosis": "Diagnosing either form of FM is best accomplished by chest CT, a scan that shows the abnormal tissue in the mediastinum. The characteristic appearance of a mediastinal abnormality on chest CT scan in a person who has lived in a region with endemic histoplasmosis can definitively diagnose PHFM in many cases, especially when assessed by a pulmonologist or radiologist with expertise in this disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:324", "name_zh": "法布里病", "Name": "Fabry disease", "disease_name": "Fibrous Dysplasia", "synonyms": "FD", "disease-overview": "", "symptoms": "The severity and specific symptoms of FD can vary greatly from one person to another. Most affected individuals only have one bone involved and often there are no associated symptoms (asymptomatic). Many times, FD is discovered incidentally when x-rays are performed for another reason. Conversely, some affected individuals can have multiple bones affected and develop severe and potentially disabling or disfiguring symptoms. In most affected individuals, onset of symptoms is usually in childhood; it is unusual for the onset of the disorder to occur after 10.", "causes": "The underlying cause of FD is not fully understood. Researchers believe that the disorder is caused by a change (mutation) in a gene called GNAS1. This gene mutation occurs after fertilization of the embryo (somatic mutation) and is therefore not inherited, nor will affected individuals pass the mutation on to their children. Affected individuals have some cells with a normal copy of this gene and some cells with the abnormal gene (mosaic pattern). The variability of symptoms of FD is due, in part, to the ratio of healthy cells to abnormal cells. Researchers do not know why these somatic mutations occur; they appear to develop randomly for unknown reasons (sporadically).", "affected": "Fibrous dysplasia affects males and females in equal numbers. The disorder is diagnosed earlier in children and young children. The exact incidence and prevalence of the disorder is unknown. Mild cases may go undiagnosed, making it difficult to determine the true frequency of FD in the general population. The monostotic form is more common than the polyostotic form; according to some reports by a ratio of 4:1.", "related-disorders": "Symptoms of the following disorders can be similar to those of fibrous dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of fibrous dysplasia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Individuals with mild forms of monostotic FD may be diagnosed incidentally when receiving an x-ray for another reason.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2034", "name_zh": "丝虫病", "Name": "Filariasis", "disease_name": "Filariasis", "synonyms": "Bancroftian Filariasis", "disease-overview": "Filariasis is an infectious tropical disease caused by any one of several thread-like parasitic round worms. The two species of worms most often associated with this disease are Wuchereria bancrofti and Brugia malayi. The larval form of the parasite transmits the disease to humans by the bite of a mosquito. In the early stages of the infection, the patient characteristically complains of fever, chills, headaches and skin lesions. Any one of several antiparasitic agents may be effective in eliminating the worm. However, if the disease is left untreated, obstruction of the lymph flow will cause particular areas of the body especially the legs and external genitals, to swell profoundly. Symptoms are primarily a response to adult worms that cause inflammation. Chronic inflammation may progress to hardening of the lymphatic vessels (fibrosis) and obstruction of the lymph flow.", "symptoms": "Some people with filariasis have no symptoms.  Other affected individuals may have episodes of acute inflammation of lymphatic vessels (lymphangitis) along with high temperatures, shaking chills, body aches, and swollen lymph nodes.  Excessive amounts of fluid may accumulate (edema) in the affected areas (i.e., arms and/or legs), but the accumulation typically resolves after the other symptoms are gone.  Attacks may also be accompanied by acute inflammation of the genitalia leading, in males, to inflammation, pain and swelling of the testes (orchitis), sperm track (funiculitis), and/or sperm ducts (epididymitis).  The scrotum may become abnormally swollen and painful.", "causes": "Filariasis is a rare infectious tropical disorder caused by the round worm parasites (nematode) Wuchereria bancrofti or Brugia malayi.  Symptoms result primarily from inflammatory reactions to the adult worms.  Some people may also develop hypersensitivity reactions to the small larval parasites (microfilariae).", "affected": "Filariasis is common disease in tropical regions of the world.  The organism W. bancrofti is present throughout Africa, Asia, China, and South America. B. malayi is found in southern and southeast Asia.  Filariasis is extremely rare in North America and occurs only when these organisms are imported from tropical regions.  The infection is transmitted by several different types of tropical mosquitos which transfer the larval stage of the organism (microfilariae) from one host to another. Lymphatic filariasis affects about 120 million people worldwide.  Short-term travelers to areas where it is endemic are at low risk for this infection.  People who visit endemic areas for extended periods of time, and especially those who are in areas or situations in which they are intensely exposed to infected mosquitoes, can become infected.  Most infections seen in the U.S. are in immigrants from endemic countries, according to the Centers for Disease Control and Prevention (CDC).", "related-disorders": "Symptoms of the following disorders can be similar to those of Filariasis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acanthocheilonemiasis is a tropical infectious disease caused by a multicellular parasite (filarial worm [nematode]), called Acanthocheilonema perstans.  This parasite is found most commonly in Africa.  Initially people with Acanthocheilonemiasis may have no symptoms.  Symptoms may include itchy skin (pruritis), abdominal pain, chest pain, muscle pain (myalgias), and/or areas of swelling under the skin.  Other symptoms may include an abnormally enlarged liver and spleen (hepatosplenomegaly), and inflammation in the affected organs.  (For more information on this disorder, choose Acanthocheilo as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3255", "name_zh": "Filippi综合征", "Name": "Filippi syndrome", "disease_name": "Filippi Syndrome", "synonyms": "Syndactyly Type I with Microcephaly and Mental Retardation", "disease-overview": "Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation. Primary physical findings include growth delays, webbing or fusion (syndactyly) of certain fingers and toes, inward deviation or bending (clinodactyly) of the fifth fingers (pinkies) and microcephaly, condition that indicates that the head circumference is smaller than would be expected for an infant’s age and sex. Filippi syndrome is transmitted as an autosomal recessive trait.", "symptoms": "Filippi syndrome is characterized by growth delays before and after birth (prenatal and postnatal growth retardation), a low birth weight, and short stature. Affected individuals also have characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. Affected infants may often exhibit microcephaly, condition that indicates that the head circumference is smaller than would be expected for an infant’s age and sex", "causes": "Filippi syndrome is transmitted as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Filippi syndrome is a rare genetic disorder that appears to affect males and females equally. Since the disorder was originally described in 1985 (G. Filippi), approximately 18 cases have been reported in the medical literature, including affected siblings within certain families (kindreds) as well as isolated cases.", "related-disorders": "Symptoms of the following disorders may be similar to those of Filippi syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "KBG syndrome is a rare genetic disorder characterized by mild to moderate mental retardation and speech defects, abnormalities of the head and facial (craniofacial) area, short stature, and additional skeletal malformations.  Characteristic facial features include a relatively round face and short head (brachycephaly); broad eyebrows that grow together across the base of the nose (synophrys); a high nasal bridge; bow-shaped lips; and prominent ears.  In addition, certain teeth may be abnormally large (macrodontia) whereas others may be absent (oligodontia).  Skeletal abnormalities may include delayed bone age; abnormal shortness of certain bones of the fingers; webbing or fusion (syndactyly) of the second and third toes; or malformations of bones within the spinal column (vertebrae).   KBG syndrome is inherited as an autosomal dominant trait.  (For further information, choose KBG as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2044", "name_zh": "Floating-Harbor综合征", "Name": "Floating Harbor Syndrome", "disease_name": "Floating Harbor Syndrome", "synonyms": "FHS", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Floating-Harbor syndrome is caused by a mutation in the SRCAP gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Floating-Harbor syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder is unknown. Because cases may go undiagnosed or misdiagnosed, determining the true frequency of FHS in the general population is difficult. As of 2014, approximately 100 cases have been reported in the medical literature. However, some of these individuals do not fit the classical description of FHS and were found not to carry mutations in the SRCAP gene.", "related-disorders": "Symptoms of the following disorders can be similar to those of Floating-Harbor syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Floating-Harbor syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The distinctive facial features that characterize FHS can be subtle and difficult to recognize during infancy. Additionally, many of the other symptoms are nonspecific to FHS, making it difficult to diagnose the disorder on clinical grounds alone.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2092", "name_zh": "局灶性皮肤发育不全", "Name": "Focal dermal hypoplasia", "disease_name": "Focal Dermal Hypoplasia", "synonyms": "combined mesoectodermal dysplasia", "disease-overview": "Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare multisystem disorder that principally involves the development of the skin, hands and feet and eyes. It is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. Most of the cases of FDH (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on various parts of the body. This syndrome displays a wide array of symptoms and may affect almost any organ. FDH is caused by changes (variants or mutations) or duplications/deletions in the PORCN gene.", "symptoms": "An extremely wide range of symptoms characterizes FDH.", "causes": "FDH is caused by changes (variants or mutations) in the PORCN gene that creates proteins important in the development of the skin, skeleton and eyes in a developing embryo and fetus. Recent studies of patients with symptoms consistent with FDH have found genetic changes in the PORCN gene in nearly all affected females.", "affected": "Prevalence estimates are not available for FDH. Approximately 200 to 300 affected individuals have been reported worldwide, and only about 10 percent are live born males.", "related-disorders": "Symptoms of the following disorders can be similar to those of focal dermal hypoplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ectodermal dysplasias are a group of hereditary, non-progressive skin diseases in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. Symptoms may include eczema, poorly functioning sweat glands, sparse or absent hair, abnormal hair, disfigured nails and difficulty with the nasal passages and ear canals. (For more information on these disorders, choose ectodermal dysplasias as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93213", "name_zh": "弃用：家族性激素敏感型原发性肾病综合征伴局灶性节段性透明样变性", "Name": "Focal Segmental Glomerulosclerosis", "disease_name": "Focal Segmental Glomerulosclerosis", "synonyms": "FSGS", "disease-overview": "Focal segmental glomerulosclerosis (FSGS) is a term for a specific pattern of damage to the kidneys. The kidneys are two bean-shaped organs in the body, one on each side of the body just below the rib cage in the back. The kidney has multiple functions including filtering the blood of waste products and other substances and producing urine to carrying waste from the body. FSGS occurs when the filters of the kidney, which are made of clusters of tiny blood vessels (capillaries) and known as renal glomeruli, become scarred or hardened (sclerosis). Each kidney has about a million glomeruli, which are part of a larger structure called the nephron; the nephron is the basic unit of the kidneys. The glomeruli help to filter out waste products and extra fluid from the blood. Scarring or damage to the glomeruli can lead to an inability of the kidneys to process waste products and eliminate those waste products from the body through the urine. Ultimately, these abnormalities lead to progressive kidney damage including decreased function and efficiency of the kidneys, and potentially kidney failure. There are different causes of FSGS and, in some instances, the cause is unknown. Depending on the cause, FSGS may be treated with certain medications, but sometimes despite treatment affected individuals will eventually require dialysis or a kidney transplant.", "symptoms": "The signs and symptoms of focal segmental glomerulosclerosis are related to progressive damage to the kidneys. Some people may not have any noticeable symptoms (asymptomatic), while others may have progressive disease that can, often rapidly, result in kidney failure.", "causes": "There are many different causes for FSGS. Many researchers believe that FSGS is caused by damage to a specialized kidney cell in the glomerulus (filter) called the podocyte. Abnormalities in the health, function, or number of podocytes ultimately leads to the scarring (sclerosis) of the glomeruli that characterizes FSGS.", "affected": "Focal segmental glomerulosclerosis is estimated to affect about 7 people per million people in the general population, although specific incidence rates vary in different populations. FSGS accounts for about 40% of adults with nephrotic syndrome and about 20% of children with nephrotic syndrome. In the United States, FSGS accounts for 5%-20% of all people who experience end stage renal disease. Some recent studies have found that the number of people who have FSGS is increasing each year.", "related-disorders": "Symptoms of the following disorders can be similar to those of focal segmental glomerulosclerosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of focal segmental glomerulosclerosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. To confirm the diagnosis, small pieces of kidney tissue are sampled in a procedure called a kidney biopsy. These tissue samples are evaluated under a microscope to look for the signs of FSGS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:545", "name_zh": "滤泡型淋巴瘤", "Name": "Follicular Lymphoma", "disease_name": "Follicular Lymphoma", "synonyms": "", "disease-overview": "Follicular lymphoma is a form of cancer. It is a type of non-Hodgkin lymphoma (NHL), which is a group of related cancers that affect the lymphatic system (lymphomas). The lymphatic system functions as part of the immune system and helps to protect the body against infection and disease. It consists of a network of tubular channels (lymph vessels) that drain a thin watery fluid known as lymph from different areas of the body into the bloodstream. Lymph accumulates in the tiny spaces between tissue cells and contains proteins, fats, and certain white blood cells known as lymphocytes. As lymph moves through the lymphatic system, it is filtered by a network of small structures known as lymph nodes that help to remove microorganisms (e.g., viruses, bacteria, etc.) and other foreign bodies. Groups of lymph nodes are located throughout the body, including, but not limited to, the neck, under the arms (axillae), at the elbows, and in the chest, abdomen, and groin. Lymphocytes are stored within lymph nodes and may also be found in other lymphatic tissues. In addition to the lymph nodes, the lymphatic system includes the spleen, which filters worn-out red blood cells and produces lymphocytes, and bone marrow, which is the spongy tissue inside the cavities of bones that manufactures blood cells. Lymphatic tissue or circulating lymphocytes may also be located in other regions of the body. There are two main types of lymphocytes: B-lymphocytes (B-cells), which may produce specific antibodies to neutralize certain invading microorganisms, and T-lymphocytes (T-cells), which may directly destroy microorganisms or cancer cells, or assist in the activities of other lymphocytes.", "symptoms": "The specific symptoms and physical findings of follicular lymphoma can vary from one person to another, depending upon the extent and region(s) of involvement and other factors. Follicular lymphoma is described as having a relapsing and remitting course; the cancer alternates between flaring up or worsening for a period of time often requiring treatment, and periods of time where the cancer is in remission or levels off. For many people, follicular lymphoma is a slow-growing cancer that develops over many years.", "causes": "The exact, underlying cause of follicular lymphoma is not fully understood. The reason why cancer develops is a complex question and researchers speculate that multiple factors are involved in the development of follicular lymphoma. These factors include genetic, environmental and immunologic factors, which all may play a role in the development of this cancer. About 85% of affected adults have a genetic abnormality that is not inherited, but found only within the cancer cells called a translocation.", "affected": "Follicular lymphoma affects both men and women, but is slightly more common in women. This form of cancer is found all over the world and can affect people of all races. It is less common in individuals of Asian or African heritage than it is in other ethnicities. The mean age at diagnosis is 65. In the United States and Western Europe, follicular lymphoma is the second most common subtype of non-Hodgkin lymphoma accounting for about 30%-35% of people with non-Hodgkin lymphoma and almost 75% of people with indolent forms of lymphoma. Each year, 15-20,000 people in the U.S. are diagnosed with follicular lymphoma. Pediatric follicular lymphoma is extremely rare variant that makes up only 1-2% of all malignant lymphomas in children. Non-Hodgkin lymphoma, as a group, accounts for about 4.3% of people with cancer in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of follicular lymphoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of follicular lymphoma is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Such testing is necessary to confirm the specific type (and subtype) of non-Hodgkin lymphoma, to determine the nature and extent of the cancer, and to determine the most appropriate treatments.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3219", "name_zh": "Fountain综合征", "Name": "Fountain syndrome", "disease_name": "Fountain Syndrome", "synonyms": "intellectual disability-deafness-skeletal abnormalities-coarse face with full lips", "disease-overview": "Fountain syndrome is an extremely rare genetic multisystem disorder that is characterized by intellectual disability; abnormal swelling of the cheeks and lips due to the excessive accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea) within the inner ear. The exact underlying cause of Fountain syndrome is unknown. The disorder is believed to be inherited as an autosomal recessive trait.", "symptoms": "Although researchers have been able to establish a syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis.", "causes": "The exact underlying cause Fountain syndrome is unknown. The disorder is believed to be inherited in an autosomal recessive manner. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Fountain syndrome is an extremely rare inherited disorder that is believed to affect males and females in equal numbers. Only several cases have been reported in the medical literature. The exact incidence or prevalence of the disorder is unknown. Because cases may go undiagnosed or misdiagnosed, determining the true frequency of Fountain syndrome in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of Fountain syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Fountain syndrome is usually diagnosed during infancy or early childhood, based upon a thorough clinical evaluation, characteristic physical findings, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:908", "name_zh": "脆性X综合征", "Name": "Fragile X syndrome", "disease_name": "Fragile X Syndrome", "synonyms": "fragile site, folic acid type, rare, Fra(X)(Q27.3)", "disease-overview": "Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. Distinctive physical features are sometimes present in affected males including a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes, but these features develop over time and may not be obvious until puberty. Motor and language delays are usually present but also become more apparent over time. Behavioral abnormalities including autistic behaviors are common.", "symptoms": "Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. The physical features in affected males are variable and may not be obvious until puberty. These symptoms can include a large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes. Other symptoms can include flat feet, frequent ear infections, low muscle tone, a long narrow face, high arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse. Delayed motor development, hyperactivity, behavior problems, toe walking, and/or occasional seizures can also occur in some patients. Autistic behaviors such as poor eye contact, hand flapping, and/or self-stimulating behaviors are also common. Motor and language delays are usually present but become more apparent over time.", "causes": "As mentioned above, fragile X syndrome is caused by a mutation in the FMR1 gene located on the X chromosome at Xq27.3. Individuals with fragile X syndrome nearly always have (in greater than 99% of cases) a full mutation of the FMR1 gene which means that they have over 200 CGG repeats and abnormal methylation of the gene. Methylation is a chemical change to the DNA that carries the genetic code of a gene and the abnormal methylation associated with fragile X syndrome causes the gene to be unable to produce FMRP, the protein made by the FMR1 gene, needed for normal development. On rare occasions some patients with fragile X syndrome are partially or completely missing the FMR1 gene due to a deletion of the DNA on the X chromosome where FMR1 is located and have the syndrome because their cells do not produce FMRP. Ultra-rare patients with fragile X syndrome have been found to have a mutation in a single DNA base (called point mutations) resulting in absent or defective FMRP. FMRP is involved in making connections between neurons (nerve cells) in the brain. The absence or severe reduction of this protein leads to the symptoms of fragile X syndrome.", "affected": "The fragile X syndrome affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females in the USA; that is, it affects about twice as many males as it does females. However, about four times as many females appear to be carriers of the altered gene as do males (1:250 females and 1:1000 males). Fragile X syndrome has been found in all major ethnic groups and races.", "related-disorders": "Premutations of the FMR1 gene are associated with two other disorders and these conditions have been termed FMR1-Related disorders. Not all individuals with a premutation will develop FMR1 – Related disorders, but having a premutation increases the risks for developing these.", "diagnosis": "Fragile XE syndrome (FRAXE) is rare and caused by an abnormal FMR2 gene located on the X chromosome very close to the site of the FMR1 gene. The normal FMR2 gene contains 6-35 copies of CCG and people with the disorder have over 200 copies of CCG in the FMR2 gene. The effect of FMR2 genes with 35-200 copies of CCG has not yet been determined likely because the disorder has a mild clinical presentation. Common symptoms of FRAXE include mild intellectual disability, learning deficits, and possible developmental delays.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2052", "name_zh": "Fraser综合征", "Name": "Fraser syndrome", "disease_name": "Fraser Syndrome", "synonyms": "cryptophthalmos-syndactyly syndrome", "disease-overview": "", "symptoms": "Fraser syndrome is characterized by multiple physical abnormalities.", "causes": "Fraser syndrome is caused by changes (mutations) in the FRAS1, FREM1, FREM2 or GRIP1 genes). More specifically, Fraser syndrome 1 (FRASRS1) is caused by mutations in the Fraser extracellular matrix complex subunit 1 (FRAS1) gene. Fraser syndrome 2 (FRASRS2) is caused by mutations in the FRAS1-related extracellular matrix protein 2 (FREM2) gene. Fraser syndrome 3 (FRASRS3) is caused by mutations in the glutamate receptor-interacting protein 1 (GRIP1) gene. FRAS1 gene mutations are the most common cause for Fraser syndrome, representing approximately half of the FS cases; whereas FREM2 gene and GRIP1 gene mutations account for a smaller percentage of cases.", "affected": "Fraser syndrome affects males and females in equal numbers. The age of onset for this disorder is neonatal/antenatal, meaning an affected individual develops this disorder before birth. FS is seen to be more prevalent in gypsy populations (Roma ethnicity) of southern and eastern Europe.", "related-disorders": "Symptoms of the following disorders can be similar to those of Fraser syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Bilateral renal agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid in a pregnant woman. Normally the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. (For more information on this disorder, choose Renal Agenesis, Bilateral as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2053", "name_zh": "Freeman-Sheldon 综合征", "Name": "Freeman-Sheldon syndrome", "disease_name": "Freeman Sheldon Syndrome", "synonyms": "Freeman-Burian syndrome", "disease-overview": "", "symptoms": "Certain problems are required to be present for diagnosis of FSS. All persons with FSS have the following problems: very small mouth (microstomia), whistling-face appearance (pursed lips), H or V shaped chin dimple and very obvious crease from the nostril to the corners of the mouth (nasolabial creases). Classically, persons also have restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.", "causes": "There is no known link between FSS and environmental or parental factors, such as exposure to illnesses, toxins, drugs or harsh substances.", "affected": "FSS appears to occur all ethnicities, both biologic genders and all geographic regions, evenly. FSS is an exceptionally rare disorder. It is estimated that 200-300 individuals worldwide may be affected, but the number of diagnosed and undiagnosed persons with FSS (population prevalence) remains uncertain.", "related-disorders": "Problems associated with other arthrogryposis and craniofacial disorders may resemble FSS. Generally, other disorders called distal arthrogryposis (DA) and arthrogryposis multiplex congenita (AMC), both broad groups of disorders that include hand, foot, head and face problems, may overlap with FSS. DAs and AMCs vary greatly in severity but are generally not inherited from parents. The major form of AMC is called amyoplasia. (For more information on this disorder, choose arthrogryposis multiplex congenita as your search term in the Rare Disease Database.)", "diagnosis": "FSS is diagnosed by thorough physical examination and medical history. Plastic surgeons and anesthesiologists who specialize in treating patients with skull and face problems are the best to diagnose and evaluate patients who may have FSS. The following problems must be present for diagnosis of FSS: small mouth (microstomia), whistling-face (pursed lips as in someone trying to whistle), down-slanting crease from the nostril to the corners of the mouth (nasolabial creases), and H or V shaped chin dimple. Classically, there must be two or more body areas with limited movement of joints, frequently the hands or feet and ankles, but FSS may be diagnosed without problems beyond the face. Patients who have the facial deformities plus two or more body areas with limited movement of joints are considered to have FSS type 1, classic. Patients who have only the facial deformities are considered to have FSS type 2, craniofacial. Patients who have the facial deformities plus one body areas with limited movement of joints are considered to have FSS type 3, mixed (upper or lower extremities). Patients with FSS type 2 tend to be the most mild and have the least complications, and patients with FSS type 1 or classic tend to be the most seriously affected and more likely to have medical complications. Patients with FSS type 3 fall between FSS types 1 and 2.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:662240", "name_zh": "", "Name": "Frey syndrome", "disease_name": "Frey Syndrome", "synonyms": "auriculotermporal syndrome", "disease-overview": "", "symptoms": "The symptoms of Frey syndrome typically develop within the first year after surgery in the area near the parotid glands. In some people, Frey syndrome may not develop until several years after surgery. The characteristic symptom of Frey syndrome is gustatory sweating, which is excessive sweating on the cheek, forehead and around the ears shortly after eating certain foods, specifically foods that produce a strong salivary response such as sour, spicy or salty foods.", "causes": "The exact underlying cause of Frey syndrome is not completely understood. The most widely held theory is that Frey syndrome results from simultaneous damage to sympathetic and parasympathetic nerves in the region of the face or neck near the parotid glands. Parasympathetic nerves are part of the autonomic nervous system, which is the portion of the nerve system that controls or regulates involuntary body functions (i.e., those functions that occur without instruction from the conscious mind). One function of parasympathetic nerves is to regulate the activity of glands including the parotid glands, but not the sweat glands. Sweat glands and blood vessels throughout the body are controlled by sympathetic fibers.", "affected": "The exact incidence of Frey syndrome is unknown. The disorder most often occurs as a complication of the surgical removal of a parotid gland (parotidectomy). The percentage of individuals who develop Frey syndrome after a parotidectomy is controversial and reported estimates range from 30-50 percent. In follow-up examinations, approximately 15 percent of affected individuals rated their symptoms as severe. Frey syndrome affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Frey syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Frey syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a specialized test called the minor iodine-starch test. During this test, an iodine solution is applied to the affected areas of the face. Then, a starch powder such as corn starch is applied over the iodine solution. Individuals are then given an oral stimulus, usually a highly acidic food such as a lemon wedge. In affected individuals, discoloration (usually purple) due to excessive sweating occurs on the affected areas.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95", "name_zh": "弗里德赖希共济失调", "Name": "Friedreich ataxia", "disease_name": "Friedreich Ataxia", "synonyms": "FRDA", "disease-overview": "Friedreich’s ataxia (FRDA) is a genetic, progressive, neurodegenerative movement disorder, with a typical age of onset between 10 and 15 years. Initial symptoms may include unsteady posture, frequent falling, fatigue and progressive difficulty walking due to impaired ability to coordinate voluntary movements (ataxia). Affected individuals often develop slurred speech (dysarthria), characteristic foot deformities and an irregular curvature of the spine (scoliosis). FRDA is often associated with cardiomyopathy, a disease of cardiac muscle that may lead to heart failure or irregularities in heart rhythm (cardiac arrhythmias). About a third of the people with FRDA develop diabetes mellitus. The symptoms and clinical findings associated with FRDA result from degenerative changes in sensory nerves, including the point where they enter the spinal cord in structures known as dorsal root ganglia, and in specific nerve tracts in the spinal cord, which leads to a deficiency of sensory signals to the cerebellum, the part of the brain that helps to coordinate voluntary movements. A specific region of the cerebellum called the dentate nucleus also degenerates in FRDA. FRDA is caused by abnormalities (variants) in the FXN gene and people with FRDA inherit a pathogenic variant from each parent, so both copies of their FXN gene do not function normally. This pattern, wherein parents who are clinically unaffected because they only carry a single variant FXN gene but can have a child who is affected because they inherit pathogenic variants from both carrier parents, is called autosomal recessive inheritance.", "symptoms": "The primary symptom of FRDA is progressive ataxia of the limbs during walking. Ataxia involves inadequate muscle coordination that results in an unsteady gait and poor control of fine movements of the limbs. Involvement of muscles in the mouth and throat may lead to slurred speech and impaired swallowing. Intellect is unaffected. Sideways curvature of the spine (scoliosis) and foot abnormalities may develop. A form of heart disease (cardiomyopathy) may develop in over half of the people with FRDA. The clinical features are progressive and after initially making use of walking aids people with FRDA ultimately require the use of a wheelchair for mobility.", "causes": "FRDA is caused by pathogenic variants (mutations) in the FXN gene. The FXN gene codes for frataxin, a protein that is required for proper functioning of mitochondria, which are the energy producing parts of our cells. In people with FRDA, since both copies of the FXN gene are abnormal and they do not produce adequate amounts of frataxin, tissues that are especially dependent on mitochondrial energy production (e.g., nerve and heart cells) start to degenerate.", "affected": "The prevalence of FRDA is approximately 1 in 40,000 people. FRDA is the most common inherited ataxia in Europe, the Middle East, South Asia (Indian subcontinent) and North Africa. It is rarely identified in other populations.", "related-disorders": "Symptoms of the following disorders can be similar to those of Friedreich’s ataxia. Careful examination and appropriate testing may be useful for differential diagnosis.", "diagnosis": "FRDA is suspected in an individual based on characteristic symptoms and clinical examination. The diagnosis is confirmed by molecular genetic testing to look for pathogenic variants in the FXN gene. The most common type of variant – which is observed in both the maternal and paternal copies of the FXN gene of more than 90% of individuals with FRDA – is an abnormally expanded GAA repeat in intron 1 of the gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1791", "name_zh": "额面鼻发育不良", "Name": "Frontofacionasal dysplasia", "disease_name": "Frontofacionasal Dysplasia", "synonyms": "facio-fronto-nasal dysplasia", "disease-overview": "Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasia) of the nose with malformation of the nostrils. Affected infants may also have abnormal narrowing of the folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis) and an unusually increased distance between the eyes (ocular hypertelorism). Additional eye abnormalities may include partial absence of tissue (coloboma) from the upper eyelids or the colored regions of the eyes (irides) and an inability to completely close the eyes (lagophthalmos). The signs and symptoms of frontofacionasal dysplasia are highly variable. Frontofacionasal dysplasia appears to be inherited in an autosomal recessive pattern.", "symptoms": "Infants with frontofacionasal dysplasia typically have distinctive malformations of certain bones forming the skull as well as additional facial, nasal, and eye (ocular) defects. For example, the disorder may be associated with premature closure of the fibrous joints (sutures) between particular bones of the skull (craniosynostosis), causing the head to appear unusually short and broad (brachycephaly). In addition, there may be early conversion of fibrous tissue into bone (early ossification) within the base of the skull (sphenoid bone), and some of the air-filled cavities (i.e., paranasal ethmoidal sinuses) within certain bones around the nose may be abnormally large. Underdevelopment of the middle portion of the face (midface hypoplasia) also occurs.", "causes": "Frontofacionasal dysplasia appears to be inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. The risk is the same for males and females.", "affected": "Since the disorder was originally described in 1981 (T.R. Gollop) in a brother and sister, fewer than 10 cases of frontofacionasal dysplasia have been reported in the medical literature. The two siblings as well as the third individual reported with the disorder are of Brazilian descent.", "related-disorders": "Symptoms of the following disorders may be similar to those of frontofacionasal dysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Craniofrontonasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may vary greatly in range and severity from person to person. However, in many affected individuals, such abnormalities may include an unusually broad, prominent forehead; widely spaced eyes (ocular hypertelorism); a broad nose with a grooved nasal tip; and a wide mouth. Additional malformations may sometimes be present, such as incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); split nails; unusually broad great toes; webbing of certain fingers or toes (syndactyly); and/or additional skeletal abnormalities. (For further information on this disorder, please choose craniofrontonasal as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:250", "name_zh": "额鼻发育不良", "Name": "Frontonasal dysplasia", "disease_name": "Frontonasal Dysplasia", "synonyms": "FND", "disease-overview": "Frontonasal dysplasia is a rare disorder characterized by abnormal development of the head and face before birth. Major physical characteristics may include widely spaced eyes (ocular hypertelorism); a flat broad nose; and/or a vertical groove down the middle of the face. The depth and width of the vertical groove may vary greatly. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. There are at least three types of frontonasal dysplasia that can be distinguished by genetic causes and symptoms.", "symptoms": "Frontonasal dysplasia-1(FND-1)", "causes": "FND-1 is caused by mutations in the ALX3 gene; FND-2 is caused my mutations in the ALX4 gene; and FND-3 is caused by mutations in the ALX1 gene.", "affected": "Frontonasal dysplasia is a very rare disorder that affects males and females in equal numbers. The number of people affected by this disorder is not known. There are at least 100 cases reported in the scientific literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of frontonasal dysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Craniofrontonasal dysplasia is a rare disorder characterized by widely spaced eyes (ocular hypertelorism), a missing or grooved tip of the nose, a broad nasal bridge, and/or malformation of the bone forming the center of the chest (sternum). Other abnormalities associated with this disorder may include an unusually wide mouth, webbed fingers and/or toes (syndactyly), a broad index finger, split nails, malformed ears, and/or a broad, high forehead. Craniofrontonasal dysplasia is thought to be inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose craniofrontonasal dysplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment of this disorder depends upon the severity of the physical characteristics in each individual case. Surgery may be performed to correct the craniofacial abnormalities (e.g., divided nose, cleft lip, etc.) associated with this disorder. In some cases, additional surgeries may be necessary when an affected child grows older."}
{"OrphaCode": "ORPHA:282", "name_zh": "额颞叶痴呆", "Name": "Frontotemporal dementia", "disease_name": "Frontotemporal Degeneration", "synonyms": "frontotemporal dementia", "disease-overview": "", "symptoms": "Frontotemporal degeneration clinical subtypes are organized according to:", "causes": "Frontotemporal degeneration is caused by damage to the frontal and temporal lobes of the brain. The frontal lobe is the largest lobe in the brain and is located right behind the forehead. The frontal lobe is critical for thinking, planning, decision making and other higher mental processes. The frontal lobe helps people to manage and control emotional responses. The temporal lobes are located below and to both sides of the frontal lobe. The temporal lobes are believed to be involved in semantic memory, or our knowledge of objects, people, words and faces. They also play a role in language and emotion.", "affected": "Frontotemporal degeneration is the second most common form of dementia in people under the age of 65 after Alzheimer’s disease. The mean age of onset is usually given as the late 50s, with an age range of 20-80. However, onset before 40 or after 75 is less common. Frontotemporal degeneration is estimated to affect about 50,000-60,000 people in the United States. Researchers believe that many people go undiagnosed or misdiagnosed with another condition. This makes it difficult to determine the true frequency of frontotemporal degeneration in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of frontotemporal degeneration. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of frontotemporal degeneration is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A neuropsychological evaluation involves an interview and certain tests, often pencil and paper type tests. This evaluation will allow a physician to assess behavior, language, memory, visual-spatial and other cognitive functions. Early in the course of the disorder, people with the behavioral variant of frontotemporal degeneration tend to score very well on neuropsychological testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:469", "name_zh": "遗传性果糖不耐受症", "Name": "Fructose Intolerance, Hereditary", "disease_name": "Fructose Intolerance, Hereditary", "synonyms": "Fructose-1-Phosphate Aldolase Deficiency", "disease-overview": "There are three inherited disorders of fructose metabolism that are recognized and characterized. Essential fructosuria, is a mild disorder not requiring treatment, while Hereditary fructose intolerance (HFI) and Hereditary fructose-1,6-biphosphatase deficiency (HFBP) are treatable and controllable but must be taken seriously.", "symptoms": "Soon after fructose is added to the diet of an infant with HFI, symptoms become apparent.  These may include prolonged vomiting, failure to thrive, jaundice and growth retardation. There may be occasional episodes of unconsciousness.  Other symptoms include enlargement of the liver and frequently cirrhosis, and a tendency towards gastrointestinal bleeding because of deficiency of clotting factors. There are decreased levels of glucose and phosphate in the blood and increased levels of fructose in the blood and urine.", "causes": "Studies of families in which HFI occurs leads geneticists to believe that the disorder is inherited as an autosomal recessive trait, The responsible gene has been mapped to the long arm (q) of chromosome 9 at gene  map locus 9q22.3.", "affected": "Hereditary Fructose Intolerance may be diagnosed at birth or shortly thereafter when the infant is weaned. Like other autosomal disorders it is equally distributed among males and females.  Estimates of the incidence of the disorder range widely from 1:10,000 to 1:100,000 births.", "related-disorders": "Essential Fructosuria is characterized by the presence of fructose in the urine after ingesting fructose.  It arises as a result of a deficiency of the hepatic enzyme fructokinase and is an autosomal recessive genetic disorder.  The disorder is mild and it probably remains undiagnosed in many, many people.", "diagnosis": "A diagnosis of HFI can be definitively confirmed by either of two tests: an enzyme assay, requiring a liver biopsy, to determine the level of aldolase activity or a fructose tolerance test in which the patient's response to intravenous fructose feeding is carefully monitored. It should be carefully noted, however, that each of these tests carries with it a substantial risk, especially to a newborn child. A non-invasive DNA test is increasingly being recommended instead.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2059", "name_zh": "Fryns综合征", "Name": "Fryns syndrome", "disease_name": "Fryns Syndrome", "synonyms": "FRNS", "disease-overview": "", "symptoms": "Fryns syndrome is characterized by multiple congenital anomalies that vary in severity from person to person. Although not all patients present with the following characteristics, the most common clinical features in this condition are:", "causes": "The specific gene/s that cause Fryns syndrome are not known, but due to patterns detected within families, it is thought that Fryns syndrome is an autosomal recessive condition.", "affected": "Fryns syndrome is a rare disease that affects both males and females equally. A 1989 French study reported 7 cases per 100,000 live births, but no other recent estimates of prevalence have been published.", "related-disorders": "Symptoms of the following disorders may be similar to those of Fryns syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In studies, 1.3% to 4%-10% of persons with congenital diaphragmatic hernia have Fryns syndrome, making it the most common autosomal recessive condition associated with CDH. However, not all individuals with CDH have Fryns syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:349", "name_zh": "岩藻糖苷贮积病", "Name": "Fucosidosis", "disease_name": "Fucosidosis", "synonyms": "alpha-L-fucosidase deficiency", "disease-overview": "", "symptoms": "The symptoms of fucosidosis vary greatly even among individuals within the same family. Fucosidosis can be rapidly progressive causing severe, life-threatening complications in children or develop during adolescence and progress more slowly eventually causing serious complications in adulthood. In the past, fucosidosis was sometimes separated in type I and type II. However, researchers now believe that fucosidosis represents a disease spectrum with a wide variety of expression. Cases labeled fucosidosis type I (early onset, rapid progression) represent the severe end of the spectrum and those labeled fucosidosis type II represent the mild end.", "causes": "Fucosidosis is caused by disruptions or changes (mutations) of the alpha-L-fucosidase (FUCA1) gene resulting in deficiency of the alpha-L-fucosidase enzyme. The symptoms of fucosidosis occur as a result of excessive accumulation of fucose-containing compounds (e.g., certain glycosphingolipids or certain glycoproteins) in the body due to abnormally low levels of this enzyme. Researchers do not know why the symptoms and severity vary so greatly in individuals with fucosidosis. Some researchers believe that mutation of the FUCA1 gene in combination with certain genetic and environmental factors all play a role in the severity of the disease in individuals. More research is necessary to determine what these factors may be.", "affected": "Fucosidosis affects males and females in equal numbers. Fewer than 100 cases have been reported in the medical literature. One estimate place the incidence rates at below 1 in 200,000 live births. Some researchers believe fucosidosis is underdiagnosed making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of fucosidosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of fucosidosis may be suspected in infants with skeletal disease during the first year of life that is accompanied by neurological deterioration and intellectual disability. The diagnosis may be confirmed thorough clinical evaluation, detailed patient history, and a variety of specialized tests. For example, electron microscopic examination of tissue samples from the skin, liver, spleen, heart, lung, kidney, sweat glands, and/or other cells may reveal abnormal cavities (vacuoles) inside these cells. These vacuoles may be clear or filled with sand-like granules or thin, disc-like (lamellar) bodies. Advanced imaging techniques, such as magnetic resonance imaging (MRI) and computer-assisted tomography (CT scan) of the brain may confirm degeneration of the white matter of the brain. Laboratory analysis of urinary samples may reveal increased levels of certain fucose-containing complex compounds in the urine (e.g., oligosacchariduria and glycopeptiduria). In addition, reduced activity of the alpha-L-fucosidase enzyme may be confirmed by enzyme tests (assays) on cultured fibroblasts and leukocytes. (As some unaffected individuals may normally show reduced levels of alpha-L-fucosidase in the serum and plasma, assays conducted on the serum and plasma alone may not be conclusive; therefore, fibroblast and leukocyte assay testing is necessary.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:272", "name_zh": "福山型先天性肌营养不良症", "Name": "Fukuyama Type Congenital Muscular Dystrophy", "disease_name": "Fukuyama Type Congenital Muscular Dystrophy", "synonyms": "cerebromuscular dystrophy, Fukuyama type", "disease-overview": "Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited in an autosomal recessive pattern. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, intellectual disability and speech problems. This disorder is predominantly found in Japan.", "symptoms": "Infants with FCMD are floppy at birth and usually have problems sucking and swallowing. They have a weak cry and there is a loss of muscle tone as well as weakness of the muscles. The joints in the knees and elbows may be in a fixed position (contractures) and reflexes of the tendons are poor.", "causes": "FCMD occurs because of a change (mutation or variant) in the gene that gives instructions for the production of (codes for) a protein known as fukutin. The normal role of this protein isn’t yet well understood.", "affected": "FCMD is almost nonexistent in the United States, but in Japan is second only to Duchenne muscular dystrophy in frequency. The incidence in Japan is reported as about 0.7-1.2 cases per 100,000 children.", "related-disorders": "Symptoms of the following disorders can be similar to those of Fukuyama type congenital muscular dystrophy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Becker muscular dystrophy (BMD) is much like Duchenne muscular dystrophy and is characterized by weakness of the muscles of the legs that usually first is noticed in a boy’s pre-teen and teen years. The muscle weakness is progressive but milder in severity than in Duchenne muscular dystrophy. (For more information on this disorder, choose Becker as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:369929", "name_zh": "原发性醛固酮增多症伴癫痫和神经系统异常综合征", "Name": "Functional Neurological Disorder", "disease_name": "Functional Neurological Disorder", "synonyms": "functional neurological symptom disorder", "disease-overview": "Functional neurological disorder (FND) is a medical condition in which there is a problem with the functioning of the nervous system and how the brain and body sends and/or receives signals, rather than a structural disease process such as multiple sclerosis or stroke. FND can encompass a wide variety of neurological symptoms, such as limb weakness or seizures.", "symptoms": "FND patients can experience a wide range and combination of symptoms that are physical, sensory and/or cognitive. The most common include:", "causes": "The exact cause of FND is unknown, although ongoing research is starting to provide suggestions as to how and why it develops. Many different predisposing factors can make patients more susceptible to FND such as having another neurological condition, experiencing chronic pain, fatigue or stress. Childhood abuse, maltreatment or neglect and life stress, particularly around the time of symptom onset, is also more common in people with FND than in the general population. However, many people with FND have none of these risk factors which are also unfortunately common in all, including healthy, populations. As with most complex disorders affecting the brain, it’s likely that genetic factors play a role in the condition, but it is not a problem that someone should expect to pass on genetically.", "affected": "The exact prevalence of FND is unknown. However, research suggests FND is the second most common reason for a neurological outpatient visit after headache/migraine, accounting for one sixth of diagnoses. This means FND could be as common as multiple sclerosis or Parkinson’s disease.", "related-disorders": "It is common for FND to co-exist with other illnesses. FND can have similar symptoms to most other types of conditions seen in neurological practice such as multiple sclerosis, stroke and epilepsy. Some patients have another neurological disease diagnosis such as stroke and FND. A neurologist is normally required to assess which symptoms relate to FND and to monitor where required for any new symptoms.", "diagnosis": "FND is not a diagnosis of exclusion. It should be diagnosed on the basis of positive physical signs and clinical features, and usually requires a neurologist or a doctor familiar with neurological diagnosis. There are dozens of these clinical features but some examples are:", "therapies": "Overview"}
{"OrphaCode": "ORPHA:352", "name_zh": "半乳糖血症", "Name": "Galactosemia", "disease_name": "Galactosemia", "synonyms": "galactose-1-phosphate uridylyl transferase deficiency", "disease-overview": "Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose to glucose. Galactose is a sugar contained in milk, including human mother’s milk as well as other dairy products. It is also produced by the human body, and this is called endogenous galactose. Glucose is a different type of sugar. The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process. Early diagnosis and treatment with a lactose-restricted (dairy-free) diet is absolutely essential to avoid profound intellectual disability, liver failure and death in the newborn period. Galactosemia is inherited as an autosomal recessive genetic condition. Classic galactosemia and clinical variant galactosemia can both result in life-threatening health problems unless lactose is removed from the diet shortly after birth. A biochemical variant form of galactosemia termed Duarte is not thought to cause clinical disease due to lactose consumption.", "symptoms": "An infant with galactosemia appears normal at birth, but within a few days or weeks loses their appetite and starts vomiting excessively. Yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), enlargement of the liver (hepatomegaly), appearance of amino acids and protein in the urine, growth failure, and, ultimately, accumulation of fluid in the abdominal cavity (ascites) with abdominal swelling (edema) may also occur. Diarrhea, irritability, lethargy and a bacterial infection may also be early signs of galactosemia. In time, wasting of body tissues, marked weakness, and extreme weight loss occur unless lactose is removed from the diet.", "causes": "Galactosemia occurs due to disruptions or changes (mutations) in the GALT gene resulting in deficiency of the GALT enzyme. This leads to abnormal accumulation of galactose-related chemicals in various organs of the body causes the signs and symptoms and physical findings of galactosemia.", "affected": "Classic galactosemia is diagnosed in the range of 1/16,000 to 1/48,000 births through newborn screening programs around the world, depending on the diagnostic criteria used by the program. The disorder has been reported in all ethnic groups. An increased frequency of galactosemia occurs in individuals of Irish ancestry. Clinical variant galactosemia occurs most often in African Americans and native Africans in South Africa who have a specific  gene mutation.", "related-disorders": "Symptoms of the following disorders can be similar to those of galactosemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Galactokinase (GALK) deficiency is associated with cataracts, increased blood concentration of galactose and increased concentration of galactitol in the urine. Galactitol accumulates in the lens of the eye where it causes lens swelling and protein precipitation and subsequently, cataracts. GALK deficiency is an autosomal recessive genetic disorder caused by mutations in the GALK1 gene and diagnosed by reduced GALK enzyme activity.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2065", "name_zh": "Galloway-Mowat综合征", "Name": "Galloway-Mowat syndrome", "disease_name": "Galloway-Mowat Syndrome", "synonyms": "Galloway Syndrome", "disease-overview": "Galloway-Mowat syndrome is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney disease. Physical features may include microcephaly, (a condition that indicates that the head circumference is significantly smaller than would be expected based upon an infant’s age and gender) and, in some cases, protrusion of part of the stomach through an abnormal opening in the diaphragm (hiatal hernia). Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements (nystagmus). Infants and children exhibit a delay in obtaining developmental milestones. The majority of affected children do not obtain independent sitting or ambulation or the acquisition of any purposeful hand use or verbal communication. Severe/profound intellectual disability is typically present. Kidney disease is characterized by damage to the clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse mesangial sclerosis) resulting in loss of protein in the urine and abnormal kidney function with associated swelling of the face and peripheries resistant to current medical treatment (steroid resistant nephrotic syndrome). Most affected individuals do not survive beyond teenage years, with the commonest causes of death being nephrotic syndrome or seizures. Galloway-Mowat syndrome appears to be genetically heterogeneous and is believed to be inherited in an autosomal recessive manner, a significant proportion of cases identified to date have been shown to be caused by biallelic alterations (mutations) in the WDR73 gene.", "symptoms": "Although researchers have been able to establish a syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genetic causes aside from WDR73 and other yet undiscovered genetic factors influencing the disorder, have prevented physicians from developing a complete picture of associated symptoms and prognosis. Some researchers believe that Galloway-Mowat syndrome represents a clinically and genetically heterogeneous group of disorders, which means disorders that have different underlying causes (e.g. different aberrant genes), but that result in the same symptoms or spectrum of symptoms. Consequently, the specific symptoms present and overall severity can vary greatly from one person to another.", "causes": "In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. Because cases may go misdiagnosed or undiagnosed, determining the true frequency of Galloway-Mowat syndrome in the general population is difficult.  There is a WDR73 founder mutation present at high frequency in the Old Order Amish population, leading to an increased frequency of Galloway-Mowat syndrome within this population.", "related-disorders": "Because of the varied symptoms and presentation of Galloway-Mowat syndrome, there are many disorders that can have overlapping symptoms or similar disease expression.", "diagnosis": "Galloway-Mowat syndrome can be diagnosed after birth (postnatally) by a thorough clinical evaluation, characteristic physical findings, specialized laboratory tests, imaging techniques, and genetic testing. Several main symptoms associated with the disorder such as nephrotic syndrome, and a small brain (microcephaly) may be obvious at birth.", "therapies": "Treatment is directed toward the specific symptoms that are apparent in each individual and may require the coordinated efforts of a team of specialists. Pediatricians, kidney specialists (nephrologists), gastroenterologists, neurologists, surgeons, physical therapists, and/or other healthcare professionals may need to work together to ensure a systematic, comprehensive approach to treatment. Genetic counseling may be of benefit for affected individuals and their families."}
{"OrphaCode": "ORPHA:44890", "name_zh": "胃肠道间质肿瘤", "Name": "Gastrointestinal stromal tumor", "disease_name": "Gastrointestinal Stromal Tumors", "synonyms": "GIST", "disease-overview": "", "symptoms": "GIST can present with a wide spectrum of subjective symptoms, such as nausea, early satiety, bloating and weight loss. Patients can also experience objective signs of a tumor, such as anemia (low red blood cell count) or a lump in the abdomen. These signs and symptoms depend on the tumor location (e.g., stomach versus rectum), size and pattern of growth.", "causes": "Current research suggests that disease-causing gene variants underlie the processes by which cells become cancerous. Specifically, malignancies most often develop due to variants in genes known as oncogenes or tumor suppressor genes. Oncogenes promote cell division, while tumor suppressor genes block cell division and ensure that cells die at the proper time; abnormalities of either type of gene can contribute to cancer development. In the case of GIST, most tumors have variants in the KIT oncogene and a minority have variants in the PDGFRA oncogene. Both genes encode proteins called tyrosine kinases, a finding that has been critical for better understanding and treating the disease. Most of these cancer-causing variants are acquired during life, rather than being inherited, and are found only in the cancerous cells.", "affected": "The exact incidence and prevalence of GIST are unknown, but estimates range from 3.2–19 people per million in the general population. GISTs are the most common sarcomas of the GI tract, though they account for only a small fraction of all GI cancers. The typical GIST patient presents in the fifth to seventh decade of life, with some studies suggesting that males are affected more often than females. Children have also been found to present with GIST, but these cases are very rare and usually occur as SDH-deficient GIST in the setting of CSS (males or females) or Carney triad (females only). The disease in children may have a slower time course, but this is not always so; in rare cases, the disease may be more aggressive. As a better understanding of GIST biology has emerged, and potential links between the incidence of GIST and ethnic backgrounds have been revealed. In the U.S., the highest rate is within the black population, followed by Asian/Pacific Islanders, whites and Hispanics.", "related-disorders": "", "diagnosis": "GIST diagnosis can be confirmed by biopsy during endoscopy or by percutaneous biopsy (through the skin). The use of endoscopic ultrasound for lesions in the stomach can be helpful, as these tumors can be below the surface of the stomach and therefore not seen by standard endoscopy. If tumors are larger than 2 cm, a biopsy suggesting a benign lesion should be interpreted with caution.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:558411", "name_zh": "特发性胃肌轻瘫", "Name": "Gastroparesis", "disease_name": "Gastroparesis", "synonyms": "delayed gastric emptying", "disease-overview": "Gastroparesis (abbreviated as GP) represents a clinical syndrome characterized by sluggish emptying of solid food (and more rarely, liquid nutrients) from the stomach, which causes persistent digestive symptoms especially nausea and primarily affects young to middle-aged women, but is also known to affect younger children and males. Diagnosis is made based upon a radiographic gastric emptying test. Diabetics and those acquiring gastroparesis for unknown (or, idiopathic) causes represent the two largest groups of gastroparetic patients; however, numerous etiologies (both rare and common) can lead to a gastroparesis syndrome.", "symptoms": "The digestive symptom profile of nausea, vomiting, abdominal pain, reflux, bloating, a feeling of fullness after a few bites of food (early satiety), and anorexia can vary in patients both in combination and severity. A small percentage of patients who live with poorly managed symptoms despite numerous treatment interventions, and an inability to meet their nutritional needs represent the extreme end of the gastroparesis spectrum of gastric failure. For most, the prevailing symptom experience is persistent nausea that often intensifies a few hours after eating. Nausea may become so intense as to trigger vomiting even after a few sips of water. Vomiting, also commonly reported, typically starts a couple of hours after eating so that the food is still recognizable and undigested. Chronic abdominal pain, which may also occur, is felt to result from visceral neuropathy. The pain, often diffuse, is described as burning, shearing or gnawing in character. The nature of pain may also be complex with some individuals experiencing acute pain, trigged by eating, layered on top of the chronic pain. This acute, sharp pain may be related to intestinal cramping and/or to spasms in the upper portion of the stomach caused by its failure to relax and accommodate the just-eaten food. As well, a gall bladder that is sluggish to empty (paresis) is commonly found in association with a poorly emptying stomach. This may all add to the pain experienced soon after eating. A poorly emptying stomach additionally predisposes patients to regurgitation of solid food, as well as gastric esophageal reflux disease (GERD). The reflux may range from mild through to severe. GERD complications can create esophageal spasm (also called non-cardiac chest pain) and can add to the burden of chronic pain. In severe cases, reflux aspiration pneumonitis compounds the clinical picture.", "causes": "The etiologies (causes) for gastroparesis are extensive and varied. Reports from one tertiary referral center found that out of their 146 patients with gastroparesis: 36% were idiopathic (unknown causes), 29% were diabetic, 13% were post-surgical, 7.5% had Parkinson’s disease and 4.8% had collagen diseases. Any disease of metabolic, neurological (psychiatric, brainstem, autonomic including sympathetic and parasympathetic or enteric), or connective tissue (autoimmune) origin has the potential to disrupt gastric neural circuitry. Regional areas of the stomach may show various degrees of dysfunction, such as: failure of fundic relaxation, weakened postprandial antral contractions, pylorospasm, and / or gastric hyperalgesia; yet, rarely is gastroparesis restricted exclusively to the stomach. If perturbation of stomach function occurs, this will indirectly impact function in many other regions along the GI tract due to the complex enteric reflexes and neuronal relays which exist throughout the gastrointestinal (GI) system. The ability of the GI track to cross-talk is essential for coordination of normal digestion. Gastroparesis then is a complex, multifactor, chronic, digestive disease state with possible genetic, physiological, immune, psychological, social and environmental interplays.", "affected": "Gastroparesis demonstrates a gender bias affecting more women than men. Approximately 80% of idiopathic cases are women. Idiopathic gastroparesis may be linked to an as yet-to-be-elucidated enteric autoimmune disease. The prevalence of delayed gastric emptying in Type 1 diabetics has been reported to be 50% and in type 2 diabetics, reports range from 30% to 50%. Post surgical gastroparesis is a recognized as inadvertent vagal nerve damage or entrapment following upper abdominal surgery, examples are: fundoplication for the treatment of GERD, bariatric surgery, peptic ulcer surgery, anterior approach for spinal surgery (scoliosis), heart, lung transplant, or pancreatic surgery.", "related-disorders": "A stomach motor disturbance known as dumping syndrome whereby food or liquids empty too quickly from the stomach can present with similar symptoms as are found in gastroparesis. Other disorders that may clinically present as gastroparesis (gastritis, gastric ulcers, pyloric stenosis, celiac disease, and GI obstructions) need to be ruled out.", "diagnosis": "A diagnosis of gastroparesis is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. Tests may first be performed to rule out other causes of delayed gastric emptying such as obstruction of the gastrointestinal tract. Additional tests are then performed to confirm a diagnosis of gastroparesis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2368", "name_zh": "腹裂", "Name": "Gastroschisis", "disease_name": "Gastroschisis", "synonyms": "congenital fissure", "disease-overview": "", "symptoms": "Gastroschisis is apparent at birth and can also be detected prenatally with ultrasound. Infants with this disorder have a 2-5 cm opening at the umbilical ring in which prolapsed abdominal organs appear on the outer surface of the abdomen. The abdominal cavity is smaller than normal, and the prolapsed intestines and other organs have no membranous sac covering it. This opening is typically found to the right, adjacent to the umbilical cord attached on the left side. The stomach, small intestine and large intestine are the most common organs that extend outside the abdomen. If the liver is also prolapsed, this should not be considered a gastroschisis.", "causes": "The exact mechanism of gastroschisis is not known; however, several theories have been suggested.", "affected": "As of 2023, this condition is estimated to affect about 2 to 5 per 10,000 newborns. The Centers for Disease Control and Prevention (CDC) estimates that there are about 1,953 babies born with gastroschisis in the United States each year.", "related-disorders": "Clinical findings of the following disorders can be similar to those of gastroschisis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Omphalocele is a herniation of internal abdominal organs located within the umbilicus from a defect of an enlarged umbilical ring. The umbilical cord is inserted centrally in the distal membrane of the protruded organs. The umbilical ring is intact. The protrusion may be very small with just a few loops of bowel protruding or may contain all the intestines, liver and stomach. Unlike gastroschisis, the organs that are protruding are covered with a membranous sac. It has been suggested that omphalocele and gastroschisis may be the same disorder but that the omphalocele may rupture during fetal growth thus absorbing the membranous sac. This theory has not been proven to date.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:355", "name_zh": "戈谢病", "Name": "Gaucher disease", "disease_name": "Gaucher Disease", "synonyms": "cerebroside lipidosis syndrome", "disease-overview": "", "symptoms": "Researchers have identified three distinct forms of Gaucher disease separated by the absence (type 1) or presence and extent (type 2 or type 3) of neurological complications. Additional forms of Gaucher disease include perinatal-lethal form and cardiovascular form. The specific symptoms present in individuals with Gaucher disease vary greatly from person to person. Some individuals exhibit few or no symptoms (asymptomatic); others experience chronic, and sometimes severe, complications.", "causes": "Gaucher disease is caused by changes (mutations) in the GBA gene.", "affected": "All forms of Gaucher disease affect males and females in equal numbers. Gaucher disease type 1 is the most common type, accounting for more than 90 percent of cases among Caucasians. Individuals with Gaucher disease type 1 usually exhibit symptoms during adolescence, but the age of onset ranges from childhood to adulthood. The age of onset for Gaucher disease type 2 is during early infancy. The age of onset of Gaucher disease type 3 varies, but the disorder generally begins during childhood or adolescence. The frequency of neuropathic forms of Gaucher disease, that is, the proportion of such cases, is higher among non-Caucasians.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gaucher disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found in all tissues, especially in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of an inability to mobilize cholesterol and other substances, which results in excessive amounts of these materials in various organs of the body. Symptoms common to all types of Niemann-Pick disease include yellow discoloration of the skin, eyes, and/or mucous membranes (jaundice), progressive loss of motor skills, feeding difficulties, learning disabilities, and an abnormally enlarged liver and/or spleen (hepatosplenomegaly). The different types of Niemann-Pick disease are inherited as autosomal recessive traits. (For more information on this disorder, choose Niemann Pick as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:51608", "name_zh": "婴儿全身性动脉钙化", "Name": "Generalized arterial calcification of infancy", "disease_name": "Generalized Arterial Calcification of Infancy", "synonyms": "ENPP1 deficiency", "disease-overview": "", "symptoms": "Newborns with GACI may exhibit symptoms such as difficulty breathing, reduced or absent pulses, cardiomyopathy, cardiomegaly or accumulation of fluid in the extremities (edema). They may struggle with heart failure or high blood pressure (hypertension). Newborns with GACI may also present with feeding difficulties, irritability or failure to thrive. On ultrasound or echocardiograph, the condition is characterized by calcification of the arteries or the valves of the heart accompanied by thickening of the lining of the arteries (intima).", "causes": "In 2003 it was discovered that variants in the ENPP1 gene were the cause of approximately 75% of cases of GACI. The ENPP1 gene provides the instructions for making a protein that helps to break down a molecule called adenosine triphosphate (ATP), when it is found outside the cell (extracellular). Extracellular ATP is broken down into adenosine monophosphate (AMP) and pyrophosphate (PPi). Variants in the ENPP1 gene result in low levels of pyrophosphate. Pyrophosphate is important in controlling calcification and other mineralization in the body. Low pyrophosphate levels allow calcification to develop in the arteries. Low AMP levels lead to narrowing of the blood vessels, with restriction of blood flow.", "affected": "GACI affects males and females equally and occurs in populations all across the world. There have been slightly over 200 cases documented since GACI was first described in the medical literature in 1899. It is estimated to occur in approximately 1 out of every 200,000 pregnancies with the carrier rate being 1:223. Survival statistics vary greatly but are currently estimated at around 50%.", "related-disorders": "Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a very rare disease typically caused by variants in the ENPP1 gene. It is also a component of ENPP1 deficiency. Patients with ARHR2 suffer from low phosphate levels in the blood (hypophosphatemia) as a result of renal phosphate wasting. The correct balance of phosphate is essential for the normal formation of teeth and bones. The frequency of the disease is unknown. (For more information on this condition, search for ARHR2 in the Rare Disease Database.)", "diagnosis": "GACI should always be considered in infants and children presenting with hypertension, cardiac failure or sudden death. Ultrasonography can aid in the diagnosis. The preferred imaging modality to assess calcifications extension is whole-body computed tomography (CT) scan combined with CT angiography.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:247353", "name_zh": "全身性疱疹性银屑病", "Name": "Generalized pustular psoriasis", "disease_name": "Generalized Pustular Psoriasis", "synonyms": "generalized pustular psoriasis of von Zumbusch", "disease-overview": "", "symptoms": "Signs and symptoms of GPP vary, but general symptoms include the widespread appearance of pustules and skin redness (erythema). Pustules are white, pus-filled bumps on the skin that are painful. The pustules of GPP are sterile (i.e., not infected with bacteria or viruses and not contagious).", "causes": "GPP is thought to be linked to a variety of triggers, but some cases of GPP are not associated with any trigger. Some triggers include emotional stress, infections, injuries, certain medications, vaccines, low calcium levels, sunlight, smoking, menstruation and pregnancy.", "affected": "The estimated incidence of GPP worldwide is 2 to 7 per million people. GPP can affect anyone at any age, but it is more likely to occur in people aged 40 to 60 years old. Females are slightly more likely to be affected than males.", "related-disorders": "Other disorders that affect the skin can resemble GPP. A history of how the condition started, the appearance of the skin lesions and skin biopsies to examine the appearance of skin under a microscope are helpful in distinguishing between GPP and disorders with similar symptoms.", "diagnosis": "A diagnosis of GPP is based on the history of how the rash started, signs and symptoms, and skin biopsy results. The presence of widespread pustules on red skin should increase suspicion for GPP, along with any other signs and symptoms consistent with GPP including skin scales and dryness, swelling, pain, itching, burning sensations, and in cases of acute GPP, systemic symptoms such as fever, fatigue, headaches and body aches.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:221117", "name_zh": "格斯特曼综合征", "Name": "Gerstmann Syndrome", "disease_name": "Gerstmann Syndrome", "synonyms": "Developmental Gerstmann Syndrome", "disease-overview": "Gerstmann syndrome is a rare neurological disorder that can occur as the result of a brain injury or as a developmental disorder. The syndrome is characterized by the loss or absence of four cognitive abilities- the loss of the ability to express thoughts in writing (agraphia, dysgraphia), to perform simple arithmetic problems (acalculia), to recognize or indicate one’s own or another’s fingers (finger agnosia), and to distinguish between the right and left sides of one’s body. Additional cognitive defects may occur in some cases.", "symptoms": "Gerstmann syndrome is a rare disorder characterized by the loss of four specific neurological functions: Inability to write (dysgraphia or agraphia), the loss of the ability to do mathematics (acalculia), the inability to identify one’s own or another’s fingers (finger agnosia), and inability to make the distinction between the right and left side of the body. It is very rare for a person with learning disabilities to have all four of these neurologic dysfunctions. Only when all four symptoms appear together without mental retardation is the classic syndrome present.", "causes": "In adults, the syndrome can arise in adults as a result of impaired blood flow to the brain (cerebrovascular disease) such as a stroke or other damage to the brain. The parietal lobes (upper side lobes) of the brain are affected in Gerstmann syndrome. The parietal lobes are involved with sensation and perception as well as understanding sensory input.", "affected": "Gerstmann syndrome affects males and females in equal numbers. The incidence of Gerstmann syndrome in the general population is unknown. The disorder was first described by Dr. Josef Gerstmann, a Viennese neurologist, in 1924.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gerstmann syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Alzheimer disease is a progressive condition of the brain that affects memory, thought, and language. The degenerative changes of Alzheimer disease lead to patches or plaques in the brain and the entanglement of nerve fibers (neurofibrillary tangles). Memory loss and behavioral changes occur as a result of these changes in brain tissue. The characteristic findings associated with Gerstmann syndrome can occur due to Alzheimer disease. (For more information on this disorder, choose Alzheimer’s as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:356", "name_zh": "Gerstmann-Sraussler-Scheinker综合征", "Name": "Gerstmann-Sträussler-Scheinker Disease", "disease_name": "Gerstmann-Sträussler-Scheinker Disease", "synonyms": "Gerstmann-Sträussler-Scheinker (GSS) syndrome", "disease-overview": "Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic degenerative brain disorder. The symptoms, the progression of the disorder, and the overall severity can vary greatly among affected families and individuals. This is true even among members of the same family. A common symptom is a progressive loss of coordination that may present as unsteadiness of gait, difficulty walking, and clumsiness. As the disease progresses, other symptoms become apparent including dementia, in which there are worsening problems with thought, cognition, memory, language, and behavior. In all instances, GSS is caused by an abnormal variant of the prion protein (PRPN) gene. The PRNP gene encodes the human prion protein (PrPc). Alterations in this gene lead to the generation of abnormally-shaped (misfolded) prion protein (PrPSc), also known simply as a prion, which is toxic to the body. In GSS, the abnormal prions build up primarily within the brain. This leads to the progressive loss of nerve cells (neurons) and the various symptoms associated with this disorder. The disorder most often affects people in their 40s through 50s. There is no cure, but investigators are researching ways to best treat and manage GSS.", "symptoms": "The initial symptoms associated with Gerstmann-Sträussler-Scheinker disease are progressive loss of coordination and mild difficulty with speech (dysarthria). Loss of coordination may present as unsteadiness, difficulty walking, and clumsiness. Affected may have problems coordinating voluntary movements (ataxia). Speech problems may present as slurred speech and progress to severe dysarthria in which people have difficulty speaking and other people have difficulties understanding what they are trying to say. There may be problems with swallowing (dysphagia) due to lack of coordination of the muscles needed for swallowing.", "causes": "GSS is caused by an abnormal variant (gene mutation) of the PRNP gene. Genes provide instructions for encoding proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "The exact incidence or prevalence of GSS is unknown. Estimates range from 1 to 10 in 100,000,000 people in the general population. CJD affects about 1 in 1,000,000 people in the general population per year. Genetic prion diseases are believed to make up about 15% of all individuals with prion diseases. Because rare diseases often go undiagnosed or misdiagnosed, it is difficult to determine their true frequency in the general population. GSS affects men and women in equal numbers. The average age of onset is 35-50 years old, the youngest describe occurrence was in a 10-year-old child.", "related-disorders": "Symptoms of the following disorders can be similar to those of GSS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of GSS is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis of GSS cannot be confirmed through laboratory tests or imaging studies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:59305", "name_zh": "妊娠滋养细胞肿瘤", "Name": "Gestational Trophoblastic Disease", "disease_name": "Gestational Trophoblastic Disease", "synonyms": "GTD", "disease-overview": "", "symptoms": "Hydatiform Moles", "causes": "The female ovum and the male sperm are called human gametes. Each gamete carries half of the total genetic information required to form the future fetus. Typically, an ovum will be fertilized by exactly one sperm. Each human gamete carries 23 chromosomes, referred to as a haploid genome. Upon fertilization, the chromosomes from each parent combine and reassemble in complementary pairs of two. The hydatiform moles result from abnormal fertilization of the female ovum by male sperm. There are many aberrant forms of fertilization. Several scenarios are described throughout this report, but the trigger factor for these reactions is unknown. Farther along in this section, we describe the biology of normal pregnancy in more detail to explain where the trophoblastic cell population arises and what its normal role is.", "affected": "There is a strikingly, ethnic predisposition to hydatiform moles in groups of women with Asian, Hispanic, and Native American ethnicity. Additionally, women who are adolescents and women over forty years old have a higher risk.", "related-disorders": "Recurrent Hydatidiform Syndrome", "diagnosis": "Hydatifirm Mole", "therapies": "First Line Treatment"}
{"OrphaCode": "ORPHA:100642", "name_zh": "欧洲非罕见：淋病", "Name": "Gianotti Crosti Syndrome", "disease_name": "Gianotti Crosti Syndrome", "synonyms": "Acrodermatitis, Infantile Lichenoid", "disease-overview": "Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infection.", "symptoms": "Gianotti-Crosti Syndrome is characterized by blisters on the skin that may or may not itch.  They are usually found on the face, buttocks, arms or legs. The blisters consist of large, flat-topped, fluid filled sacks.  They usually occur along with upper respiratory tract infection.  The blisters usually last from twenty to twenty-five days; they do not usually recur.  There may be an enlargement of the lymph nodes in the trunk area of the body. Gianotti-Crosti Syndrome usually occurs after a bout with a viral disease such as:  Coxsackievirus, Hepatitis-B, Infectious Mononucleosis or Cytomegalovirus, or after vaccination with a live virus serum.", "causes": "The cause of Gianotti-Crosti Syndrome is thought to be a reaction to a previous viral infection.  In many countries the predisposing cause is usually the Hepatitis-B virus.  In North America other viruses are more often the predisposing cause.  The exact reasons for this cause and effect situation are unknown.", "affected": "Gianotti-Crosti Syndrome usually affects children between the ages of nine months and nine years of age.  It affects males and females in equal numbers. Although the disorder is regularly associated with Hepatitis-B infections in other countries, in North America it is rarely the cause.", "related-disorders": "The following viral infections can cause Gianotti-Crosti.", "diagnosis": "", "therapies": "Because Gianotti-Crosti Syndrome is a self-limiting disorder, the treatment of affected children is primarily symptomatic and supportive. For example, in some cases, the use of topical ointments or certain medications by mouth may be recommended to help alleviate mild to potentially severe itching (pruritus). The skin lesions associated with Gianotti-Crosti Syndrome typically spontaneously resolve within approximately 15 to 60 days. When associated findings include enlargement of the lymph nodes (lymphadenopathy) and/or enlargement of the liver (i.e., in association with liver inflammation [hepatitis]), such findings may persist for several months after initial symptom onset."}
{"OrphaCode": "ORPHA:643", "name_zh": "巨轴索神经病", "Name": "Giant axonal neuropathy", "disease_name": "Giant Axonal Neuropathy", "synonyms": "GAN", "disease-overview": "Giant axonal neuropathy is a rare neuropathy that severely affects the peripheral as well as the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. Pale, tightly curled hair is frequently seen in those affected. Giant axonal neuropathy follows autosomal recessive genetic inheritance.", "symptoms": "Symptoms of giant axonal neuropathy occur in early childhood before the age of seven years. Both the central and peripheral nervous systems are affected. The central nervous system includes the brain and spinal cord and the peripheral nervous system spreads out from the brain and spinal cord to all other areas of the body. Characteristics include low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and intellectual disability. In contrast to purely peripheral neuropathies, the reflex of the toes known as Babinski’s sign is often positive, indicating involvement of central motor pathways. Most affected children have pale, tightly curled hair unlike their parent’s hair. Cranial nerves may also be affected leading to facial weakness, abnormal eyes and poor vision. An unusual leg posture is present in some affected children. Skeletal abnormalities such as scoliosis and foot deformities have been described and are thought to be a result of the nervous system dysfunction. Mental development is in most cases initially normal, but later in childhood degenerative mental changes (dementia) may occur as the disorder progresses. Giant axonal neuropathy is rapidly progressive, usually leading to dependence on a wheel chair by the second decade of life and death in the second or third decade.", "causes": "Giant axonal neuropathy is an autosomal recessive genetic disorder. This condition is caused by an abnormality in the GAN gene located on chromosome 16 at 16q24.1 that codes for the gigaxonin protein. The abnormal gigaxonin protein causes a portion of the nerve cell called the axon to swell up with deposits of tiny threads of protein called neurofilaments, giving the appearance of giant axons. The giant axons cause degeneration and abnormal functioning of the peripheral nervous system.", "affected": "Giant axonal neuropathy is a rare disorder that presents in early childhood. This disorder affects equal numbers of males and females. The prevalence of giant axonal neuropathy and the frequency of carriers of one defective copy of the GAN gene is not known, but it is known that giant axonal neuropathy is a very rare disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of giant axonal neuropathy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Charcot-Marie-Tooth (CMT) hereditary neuropathies are a group of disorders in which the motor and sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, primarily in the legs and sometimes in the hands. In contrast to giant axonal neuropathy, the overwhelming majority of patients with CMT shows no, or only very mild, central nervous system (CNS) involvement. The differential diagnosis between the rather common CMT and giant axonal neuropathy is, therefore, rarely difficult. CMT group hereditary neuropathies affect mainly the peripheral nerves that control many muscles in the body. The nerve cells in individuals with this disorder are not able to send electrical signals properly because of abnormalities in the nerve axon or abnormalities in the insulation (myelin) around the axon. Specific gene mutations are responsible for the abnormal function of the peripheral nerves. Charcot Marie Tooth hereditary neuropathy can be inherited in an autosomal dominant, autosomal recessive or X-linked mode of inheritance. (For more information about this condition, choose Charcot as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:397", "name_zh": "巨细胞动脉周围炎", "Name": "Giant Cell Arteritis", "disease_name": "Giant Cell Arteritis", "synonyms": "cranial arteritis", "disease-overview": "Giant cell arteritis (GCA) is the most common blood vessel disorder in persons over 50 years old that causes inflammation of medium and large-sized arteries in the body (vasculitis). GCA causes changes in blood vessel walls leading to poor blood circulation. Arteries most affected in giant cell arteritis are the temporal artery and other cranial arteries (now called cranial-GCA), but inflammation of the aorta and other large arteries in the body can occur as well and may present differently (now called large vessel-GCA). If left untreated, this can lead to a medical emergency where sudden blindness occurs without early detection and treatment. Signs and symptoms when the temporal or other cranial arteries are involved include arm pain, pulsing headaches on one side or on the back of the head, jaw pain, scalp tenderness, double vision or other visual disturbances, bulging temporal artery that is tender with skin edema and redness. It can also present with constitutional symptoms such as polymyalgia, fevers, anorexia, and weight loss, a presentation of LV-GCA. The cause of giant cell arteritis is still unknown but is thought to be from the immune system causing damage to the body’s own blood vessels. Polymyalgia rheumatica is an inflammatory disorder that is closely related to giant cell arteritis and occurs in 40% to 60% of patients with giant call arteritis. 15% to 20% of persons with polymyalgia rheumatica will have giant cell arteritis. Treatments available include steroids (corticosteroids) that will help with symptoms and reoccurrence and medications that weaken the immune system.", "symptoms": "Common symptoms when the temporal arteries (located on each side of the head) are affected are headaches with the artery being tender, thicker, nodular, and pulsating early-on but may become blocked later-on. Headaches are present in more than 60% of patients. The temporal artery and its parietal and frontal branches may bulge while appearing twisted/ knotted under the scalp and feel tender with skin edema and redness and may become pulseless.", "causes": "The cause of giant cell arteritis is still not fully known, however, studies linking genetic factors and infections have shown that the body’s immune system may play a role in the inflammation. Giant cell arteritis is thought to be an autoimmune disorder, where the body’s defense system used against invading organisms is used instead to attack normal healthy tissues. These immune cells come together at the site where they are attacking the body and form giant cells. These giant cells produce substances that damage walls of the artery and lead to further inflammation.", "affected": "Giant cell arteritis most commonly affects those over 50 years old (mostly above 65 years) and is more common in Caucasians, people of Nordic or northern European descent, and others in northern latitudes. Women are 2 to 3 times more likely to develop GCA than men in persons of northern European descent while there is no higher risk for women from Spain, Israel, Turkey, other Mediterranean countries, and India. Specifically, about 20 per 100,000 people among whites in northern European populations are affected, 10 per 100,000 people affected among southern European populations, and about 1 per 100,000 people affected among American populations of Asian or African descent.", "related-disorders": "The condition that presents most commonly with giant cell arteritis is polymyalgia rheumatica, which is characterized by muscle pain, stiffness, fatigue, and with or without fever. It presents abruptly as stiffness and pain in the neck, shoulders, and hips. It is also most common in persons over the age of 50.", "diagnosis": "There are no universally accepted diagnostic criteria and giant cell arteritis may be diagnosed by laboratory evaluation or physical examination. The American College of Rheumatology developed provisional classification criteria which requires at least 3 of the following: age of more than 50 years, localized headache that had not happened before, temporal artery abnormalities like tenderness or pulsations, increased time it takes red blood cells to settle (erythrocyte sedimentation rate) of greater than or equal to 50mm per hour, and or abnormal arterial biopsy. Confirmation of the diagnosis can be done by obtaining a temporal artery biopsy up to 14 days after the start of treatment, however, some patients can be positive for giant cell arteritis and respond to treatment and have a negative biopsy result. The use of ultrasound and magnetic resonance are becoming more reliable to help confirm or establish early diagnosis to prevent vision loss. Internationally, the European League Against Rheumatism (EULAR) guidelines have similar recommendations with vascular ultrasound as the first diagnostic test and if not available, the temporal artery biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:329874", "name_zh": "特发性巨细胞心肌炎", "Name": "Giant Cell Myocarditis", "disease_name": "Giant Cell Myocarditis", "synonyms": "GCM", "disease-overview": "Giant cell myocarditis is a rare cardiovascular disorder that occurs for unknown reasons (idiopathic). It is characterized by inflammation of the heart muscle (myocardium), a condition referred to as myocarditis. Inflammation is caused by widespread infiltration of giant cells associated with other inflammatory cells and heart muscle cell destruction. Giant cells are abnormal masses produced by the fusion of inflammatory cells called macrophages. Individuals with giant cell myocarditis may develop abnormal heartbeats, chest pain and, eventually, heart failure. Many individuals eventually require a heart transplant. The disorder most often occurs in young adults.", "symptoms": "The onset of symptoms of giant cell myocarditis is often rapid. Initial symptoms may include swelling of the ankles, chest pain, heart palpitations, fatigue and shortness of breath (dyspnea) especially upon exertion or lying flat. Affected individuals eventually develop irregular heartbeats (arrhythmias) such as abnormally fast (tachycardia) or slow (brachycardia) heartbeats. Arrhythmias may cause sudden episodes of lightheadedness or loss of consciousness.", "causes": "The exact cause of giant cell myocarditis is unknown. Approximately 20 percent of cases occur in individuals with autoimmune disorders suggesting that autoimmunity may play a role in the development of giant cell myocarditis. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "Giant cell myocarditis affects males and females in equal numbers. It can affect individuals of any age although most cases occur in young or middle-aged adults (median age 42 years). Approximately 300 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of giant cell myocarditis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cardiac sarcoidosis refers to the heart abnormalities sometimes associated with sarcoidosis, a rare disease characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified macrophages or epithelioid cells) in certain organs of the body. The range and severity of symptoms associated with sarcoidosis vary greatly, depending upon the specific organ(s) involved and the degree of such involvement. In some cases, only the heart may be involved (isolated cardiac sarcoidosis). The exact cause of sarcoidosis is not known. However, infectious, environmental, genetic and immunological factors are under investigation as possible causes of the disorder. (For more information on this disorder, choose sarcoidosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:626", "name_zh": "巨大先天性黑色素细胞痣", "Name": "Large congenital melanocytic nevus", "disease_name": "Giant Congenital Melanocytic Nevus", "synonyms": "bathing trunk nevus", "disease-overview": "", "symptoms": "Large/giant CMN are obvious at birth, most commonly covering an aspect of the trunk and less common on the head, neck and extremities. Affected areas of large CMN have been designated as cape, bathing trunk, tippet or garment CMN due to their respective distributions. Lesions may have irregular or geographic borders. In about 75% of cases, multiple small CMN will accompany the large CMN, usually in a generalized manner. Satellite is a commonly used description of discrete small or medium CMN or tardive nevi in the presence of a large/giant CMN, though semantically and molecularly, it is more accurate to refer to disseminated lesions. These additional smaller, disseminated CMN may be present at birth and/or may increase to significant numbers over the first few years of life. These multiple CMN should be noted in number, as greater numbers (>20) have been correlated with neurological anomalies.", "causes": "Both CMN and acquired melanocytic nevi are associated with somatic mutations in intracellular proteins of the microtubule-associated protein signal transduction pathway. For 4 in 5 cases, a single mutation in the DNA encoding the NRAS enzyme can be found, and for up to one in 6 cases, a single mutation in the DNA for the BRAF enzyme. The currently identified mutations cause the enzymes to become permanently active, and have been found in many apparently unrelated cancers as well, perhaps driving cells to proliferate. These findings imply that other, less common and not yet identified, mutations may also contribute to cause CMN.", "affected": "People of all races and colors of skin can be affected with large/giant CMN.  A slight female preponderance has been noted in large/ giant CMN (male/female ratio of 1 to 1.4), but is not observed in the smaller population of people affected by NCM.", "related-disorders": "Neurocutaneous melanocytosis is present in an estimated 5-15% of patients with large/giant CMN, while melanoma can occur in an estimated 1-2%.", "diagnosis": "Making the diagnosis of a CMN is most often done by examining clinical and dermoscopic features. The larger CMN can easily be diagnosed based solely on their size. For smaller CMN, their history of presence since birth, surface topography, presence of hair or globular dermoscopic pattern can assist in diagnosis. When biopsied, the histological features of CMN are similar to those found in common acquired nevi which arise later in life; however, CMN tend have a greater cellularity with deeper extension of nevus cells into the deep dermis and subcutis, and cells extend along adnexal structures such as hair follicles and around blood vessels and nerves. Histological criteria alone cannot be used to dictate with absolute certainty whether a nevus is congenital or acquired.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:357", "name_zh": "欧洲非罕见：吉尔伯特综合征", "Name": "Gilbert Syndrome", "disease_name": "Gilbert Syndrome", "synonyms": "constitutional liver dysfunction", "disease-overview": "Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. Most affected individuals have no symptoms (asymptomatic) or may only exhibit mild yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). Jaundice may not be apparent until adolescence. Bilirubin levels may increase following stress, exertion, dehydration alcohol consumption, fasting, and/or infection. In some individuals, jaundice may only be apparent when triggered by one of these conditions. Gilbert syndrome is inherited as an autosomal recessive trait.", "symptoms": "Although Gilbert syndrome may become apparent shortly after birth, it may not be recognized for many years. Episodes of mild jaundice may appear in young adults and is more common in males than females. Frequently, episodes of jaundice are overlooked. Gilbert syndrome is associated with fluctuating levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin levels may increase with stress, strain, dehydration, fasting, infection or exposure to cold. In many individuals, jaundice is only evident when one of these triggers raises the bilirubin levels.", "causes": "Gilbert syndrome is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Gilbert syndrome is diagnosed more often in males than females. The disorder affects approximately 3-7 percent of individuals in the general population. Gilbert syndrome affects individuals of all races. It is present at birth, but may remain undiagnosed until the late teens or early twenties. Gilbert syndrome was first described in the medical literature in 1901.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gilbert syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Gilbert syndrome is often made when blood, drawn for routine health check up or another illness, such as an infection, detects mildly elevated bilirubin levels. Because the levels of bilirubin fluctuate, blood tests may not always show elevated bilirubin. Individuals are determined to have Gilbert syndrome by the presence of hyperbilirubinemia in the absence of hemolysis (premature breakdown of red blood cells) or structural liver damage.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:358", "name_zh": "Gitelman综合征", "Name": "Gitelman Syndrome", "disease_name": "Gitelman Syndrome", "synonyms": "familial hypokalemia-hypomagnesemia", "disease-overview": "", "symptoms": "Gitelman syndrome usually becomes apparent anywhere from late childhood (usually over the age of six) to early adulthood. The disorder is highly variable, even among individuals in the same family. Some people do not develop any symptoms (asymptomatic), while others can develop chronic issues that can impact their quality of life.", "causes": "Most cases of Gitelman syndrome are caused by mutations in the SLC12A3 gene. In a minority of cases, mutations in the CLCNKB gene cause the disorder. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or not inserted in a tubule membrane properly. Depending upon the functions of the particular protein, this can affect many organ systems of the body. In the case of Gitelman syndrome, defective protein structure causes failure to reclaim filtered sodium and chloride (channelopathy). More severe salt wasting is caused by a defect in a different channel in Bartter syndrome.", "affected": "Gitelman syndrome affects males and females in equally. The disorder occurs in approximately 1 in 40,000 Caucasian individuals. However, many cases of these disorders may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of Gitelman syndrome in the general population. The prevalence of individuals with one mutated copy of a gene (known as heterozygotes or carriers of the disease) is approximately 1% of European populations. These heterozygotes may enjoy a benefit of a small degree of salt wasting: they have lower blood pressures than the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gitelman syndrome.", "diagnosis": "A diagnosis of Gitelman syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be suspected after other more common causes of hypokalemia and metabolic alkalosis are ruled out.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:849", "name_zh": "Glanzmann血小板减少症", "Name": "Glanzmann Thrombasthenia", "disease_name": "Glanzmann Thrombasthenia", "synonyms": "Glanzmann disease", "disease-overview": "Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder usually include abnormal bleeding, which may be severe. Prolonged untreated or unsuccessfully treated hemorrhaging associated with Glanzmann thrombasthenia may be life threatening.", "symptoms": "The symptoms of Glanzmann thrombasthenia usually begin at birth or shortly thereafter and include the tendency to bruise and bleed easily and sometimes profusely, especially after surgical procedures. Other symptoms may include susceptibility to easy bruising, nosebleeds (epistaxis), bleeding from the gums (gingival), intermittent gastrointestinal bleeding and/or variably small or large red or purple-colored spots on the skin that are caused by bleeding in the skin (purpura). Women with GT often also have unusually heavy menstrual bleeding, irregular uterine bleeding and excess bleeding in childbirth. Rarely, gastrointestinal bleeding and blood in the urine (hematuria) can occur. The severity of the symptoms varies greatly. Some affected individuals have mild bruising and others have severe hemorrhages that can be life threatening.", "causes": "Glanzmann thrombasthenia is inherited in an autosomal recessive pattern. An abnormality in either the gene for aIIb (glycoprotein IIb; GPIIb) or the gene for β3 (glycoprotein IIIa; GPIIIa) results in an abnormal platelet aIIbβ3 (GPIIb/IIIa) integrin family receptor and prevents platelets from forming a plug when bleeding occurs. Many different changes (mutations or variants) in these genes have been identified. Recent evidence suggests that approximately 0.5% of healthy individuals in the general population are probably carrying one gene with an abnormal (pathogenic) variant of αIIb or β3.", "affected": "Glanzmann thrombasthenia is a rare disorder that affects males and females in equal numbers. The symptoms of this disease are usually apparent at birth (neonates) or during infancy. Approximately 500 cases have been reported, but many cases have probably not been reported. This condition occurs with greater frequency in populations in which intermarriage within a group (consanguinity) is more prevalent such as in some regions of the Middle East, India and France.", "related-disorders": "Symptoms of other disorders listed below can be similar to those of Glanzmann thrombasthenia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hemophilia is a rare inherited blood clotting (coagulation) disorder caused by an inactive or deficient blood protein, usually factor VIII or IX, both of which are needed for normal blood clotting. Factors VIII and IX are two of several proteins that enable the blood to clot. Hemophilia due to abnormalities in either factor VIII or IX is found in males almost exclusively because these genes are on the X chromosome and these disorders can be classified as mild, moderate or severe. The most common forms of bleeding are hemorrhage in joints and muscles and the most serious symptom of hemophilia is bleeding in the brain. Bleeding may begin spontaneously, that is, without any apparent cause. Bleeding may cause permanent damage to the joints and muscles. People with hemophilia bleed for a longer period of time than people who have the normal amount of clotting factors in their blood. Bruises and trauma can trigger episodes of serious internal bleeding in people with this disorder. (For more information on this disorder, choose hemophilia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:360", "name_zh": "胶质母细胞瘤", "Name": "Glioblastoma", "disease_name": "Glioblastoma", "synonyms": "glioblastoma multiforme", "disease-overview": "", "symptoms": "Patients with glioblastoma have two types of symptoms, generalized and focal. Generalized symptoms tend to occur in many types of brain tumors. These symptoms include headaches, seizures, nausea/vomiting, memory loss and decrease in normal function. Focal symptoms are dependent on the location and size of the tumor. The size and location of the tumor often influences the signs and symptoms seen in patients. For example, if the tumor is in the part of the brain required for language processing, the patient may have more issues speaking or understanding speech. Other focal symptoms can include seizures, muscle weakness, sensory loss and visual changes.", "causes": "The exact cause of glioblastoma is unknown. However, there are factors that can influence the risk of glioblastomas. A risk factor known to be associated with glioblastoma is prior ionizing radiation therapy that uses high energy waves or particles to destroy cancer cells but can also cause normal cells to be damaged and even lead to new cancer cells forming. Other risk factors include employment in synthetic rubber manufacturing, petroleum refining and exposure to vinyl chloride or pesticides. It is important to note that most individuals who are diagnosed with glioblastoma may not have any of these risk factors. Likewise, those with these risk factors may never develop glioblastoma in their lifetime. Causation due to risk factors has not been established and further research is needed.", "affected": "3/100,000 people per year are affected by glioblastoma in the United States. The average age of diagnosis is 64 years of age with a slightly higher rate in males than females. Caucasians have the highest rate of glioblastoma diagnoses compared to other ethnic groups such as African Americans, Asians and Native Americans.", "related-disorders": "It is important to differentiate glioblastoma from other tumors that can affect the brain. These include but are not limited to chordomas, central nervous system (CNS) lymphomas, ependymoma, medulloblastomas, lower grade brain tumors and other cancers that have spread to the brain from other areas. Other conditions such as stroke, brain abscesses, brain bleeds and cavernous malformations can be mistaken for glioblastoma and should also be ruled out before a diagnosis is made.", "diagnosis": "Individuals who are suspected of having a glioblastoma should first undergo a full physical and neurological examination. Neurological examinations are used to assess patient sensory and muscle responses. If any signs or symptoms of glioblastoma are present, the patient will require brain imaging using contrast-enhanced magnetic resonance imaging (MRI). MRI is often used to identify glioblastomas. It is a technique that creates detailed images of the human body. An MRI machine produces a strong magnetic field and directs radio waves towards the body. Computers interpret changes in the body caused by radio waves and produce images. Contrast dye is used to further enhance imaging. This makes it easier to distinguish tumors from normal cells. Although MRI can help identify possible glioblastomas, a tissue sample from a biopsy is required to make a definite diagnosis. A biopsy is an operation that removes tissues. A diagnosis should only be made when these tissues are confirmed to be a form of glioblastoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:182067", "name_zh": "胶质瘤", "Name": "Glial tumor", "disease_name": "Glioma", "synonyms": "glial tumor", "disease-overview": "", "symptoms": "The symptoms associated with gliomas are similar among all types but can vary depending on the individual and the location of the tumor. Seizures (focal or generalized), language impairment (aphasia), weakness of part of the body (hemiparesis), sensory changes on part of the body and headaches are common. Other possible symptoms include gait disturbances, fatigue, dizziness, visual changes, vomiting and changes in urination. Psychological symptoms such as cognitive impairment, personality changes, depression, anxiety and memory impairment can also occur. Most of the symptoms are a consequence of the compressive effect of the tumor and fluid that surrounds it on the brain. Malignant gliomas (grade 3 and 4) are also associated with the development of blood clots in the deep veins, notably of the legs, (deep vein thrombosis) that can dislodge and migrate to occlude the arteries of the lungs (pulmonary embolism).", "causes": "Gliomas are caused by the accumulation of genetic mutations in glial stem or progenitor cells, leading to their uncontrolled growth. Mutated genes are typically involved in functions such as tumor suppression, DNA repair and regulation of cell growth. Examples of mutated genes in certain types of gliomas include TP53, PTEN (tumor suppressor genes), ATRX (involved in the remodeling of chromatin, a DNA-RNA-protein complex), TERT (encoding a subunit of telomerase, an enzyme that can lead to an infinite division potential in cells) BRAF (involved in cell growth) and IDH (involved in cellular metabolism).", "affected": "Excluding metastases from other cancers that reach the central nervous system, gliomas make up 26% of all brain tumors, (primary brain tumors) and 81% of all malignant brain tumors. They develop in approximately 6.6 per 100,000 individuals each year and 2.94 per 100,000 individuals under age 14. The median age (meaning that half of affected individuals are younger than this age and the other half are older) for the development of glioma is between 12 and 65 years, depending on the subtype. Pilocytic astrocytoma is the most common glioma in individuals under age 14 (34.4% of all gliomas) whereas glioblastoma is the most common glioma in adults (56.6% of all gliomas) (for more information on these types of gliomas, choose the specific glioma name as your search term in the Rare Disease Database).", "related-disorders": "", "diagnosis": "A diagnosis of glioma requires an extensive patient history as well as a complete physical and neurological examination. Signs that further investigation might be required include a new onset of seizures, abrupt onset of cognitive decline and presence of other neurological symptoms. Headaches that develop or worsen abruptly, that begin to occur after age 50, that awaken the affected person from sleep even when they are mild and that are associated with cognitive impairment are warning signs that could indicate a brain mass.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71277", "name_zh": "经典型葡萄糖转运体1缺乏综合征", "Name": "Classic glucose transporter type 1 deficiency syndrome", "disease_name": "Glucose Transporter Type 1 Deficiency Syndrome", "synonyms": "De Vivo Disease", "disease-overview": "", "symptoms": "Glut1DS represents a clinical spectrum disease. The symptoms and severity can vary dramatically from one individual to another. Mild cases often go undiagnosed, while other cases can potentially lead to severe, debilitating complications. It is important to note that affected individuals may not have all the classic symptoms discussed below or may have less severe symptoms. Affected individuals should talk to their physician and medical team about their specific clinical features, standard management and prognosis.", "causes": "Glut1DS is caused by mutations in the SLC2A1 gene. These mutations are inherited in an autosomal dominant (or rarely recessive) pattern. Most individuals with Glut1DS have a spontaneous genetic change (i.e., new mutation) in the SLC2A1 gene. In essence, the mutation started with the individual, was not inherited from the parents, but can be passed on to future generations.", "affected": "Glut1DS affects males and females in equal numbers. The incidence and prevalence of Glut1DS in the general population is unknown. Because the disorder may go unrecognized or misdiagnosed, determining its true frequency in the general population is difficult. Several hundred cases have been identified and described in the medical literature since 1991. The prevalence estimates have ranged from 1:90,000 to 1:24,000 suggesting that there are several thousand cases of Glut1DS in the USA.", "related-disorders": "Symptoms of the following disorders can be shared with Glut1DS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Glut1DS is confirmed by the presence of characteristic clinical features, hypoglycorrhachia and a disease-causing mutation in the SLC2A1 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:364", "name_zh": "葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症", "Name": "Glycogen storage disease due to glucose-6-phosphatase deficiency", "disease_name": "Glucose-6-Phosphate Dehydrogenase Deficiency", "synonyms": "G6PD deficiency", "disease-overview": "", "symptoms": "As stated above, most G6PD-deficient persons are asymptomatic most of the time; however, any one of them, when exposed to certain triggering factors, can develop acute hemolytic anemia (AHA), which may be life-threatening especially in children. Triggers for AHA in G6PD deficient persons include: (a) certain drugs (see Causes section), (b) certain infectious diseases, (c) ingestion of fava beans. The onset of symptoms is within 2-3 days after exposure to the trigger (even less with fava beans).", "causes": "G6PD deficiency is caused by an alteration (mutation) in the G6PD gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. In people with G6PD deficiency, the gene mutation and resultant enzyme deficiency is not sufficient by itself to cause symptoms. The development of symptoms requires the specific interaction of an alteration in the G6PD gene in combination with a specific environmental factor.", "affected": "G6PD deficiency is one of the most common forms of enzyme deficiency and is believed to affect more than 400 million people worldwide. Although the prevalence is high, the vast majority of people remain clinically asymptomatic throughout their lives. Many medical sources state that the disorder is more common in males, but this is not accurate.", "related-disorders": "Symptoms of the following disorders can be similar to those of G6PD deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis is based upon the identification of characteristic physical findings and symptoms, a thorough clinical evaluation, a detailed patient history, and/or specialized tests. If a person experiences symptoms, e.g. blood in the urine, and spontaneously reports eating fava beans and comes from an area or a population where G6PD deficiency is common, suspicion of the disorder should be high.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35710", "name_zh": "葡葡糖-半乳糖吸收不良症", "Name": "Glucose-galactose malabsorption", "disease_name": "Glucose-Galactose Malabsorption", "synonyms": "monosaccharide malabsorption", "disease-overview": "", "symptoms": "Symptoms usually begin in the first days of life, when a newborn drinks milk. Milk is broken down into simple sugars. Symptoms include severe diarrhea which can lead to life-threatening dehydration and difficulties gaining weight. The diarrhea and dehydration are fatal if left untreated. Once symptoms are managed, affected children typically have a normal lifespan. The symptoms may become less severe as patients age, which can allow for some sugars to be introduced back into their diet.", "causes": "Normally, the SCL5A1 gene creates a protein that transports glucose and galactose into the intestines and kidneys. These simple sugars are used throughout the body and removed through urination.", "affected": "GGM is an extremely rare disorder. There are around 300 cases worldwide. It appears to be more common in females. Most cases are seen in families where the parents are related by blood because they are more likely to carry the same harmful gene change.", "related-disorders": "The following disorders may appear with similar symptoms to GGM.", "diagnosis": "GGM can be diagnosed by testing the SLC5A1 gene to look for harmful changes. Diagnosis may also be confirmed through restricting dietary sugars (glucose, galactose, sucrose and lactose) to see if the symptoms stop. Genetic testing is replacing the glucose hydrogen breath test which is now less frequently used.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:25", "name_zh": "戊二酰-辅酶A脱氢酶缺乏", "Name": "Glutaryl-CoA dehydrogenase deficiency", "disease_name": "Glutaric Aciduria Type I", "synonyms": "GA1", "disease-overview": "", "symptoms": "Babies with GA1 are born healthy and may only have unspecific signs like macrocephaly or muscular hypotonia at birth. Macrocephaly is one of the earliest signs of GA1 so newborns with an enlarged head circumference should be evaluated for GA1. Especially during the age of 3 months to 3 years, most affected untreated babies develop an acute encephalopathic crisis which is triggered by catabolic conditions such as febrile infections, febrile reactions to vaccinations or surgery. These crises result in striatal injury and a complex, mostly dystonic, irreversible and severe movement disorder which is associated with high morbidity and mortality. These babies can experience several symptoms resembling those of cerebral palsy, such as frequently assuming odd positions due to disordered muscle tone (dystonia), involuntary and ceaseless slow, sinuous, writhing (athetotic) or jerky (choreic) movements of the trunk and limbs. Controlling the movement of hands, arms, feet, legs, head and neck may become very hard and muscle spasms may occur. Repeated stress on the body (such as infection and fever) can cause symptoms to worsen, but in some children, brain damage will occur without a triggering fever.", "causes": "GA1 is caused by pathogenic variants in the GCDH gene that leads to deficiency of the enzyme, glutaryl-CoA dehydrogenase or GCDH. This enzyme is responsible for metabolizing the amino acids lysine, hydroxylysine and tryptophan. Pathogenic variants in GCDH prevent production of the enzyme resulting in abnormal levels of glutaric, 3-hydroxyglutaric and (to a lesser extent) glutaconic acids These products accumulate and cause damage to an area of the brain called the basal ganglia that regulates motor movement.", "affected": "GA1 is a rare inborn error of metabolism that affects males as often as females. It has been estimated that there are about 140 patients with this type of organic aciduria in the United States. GA1 occurs in approximately 1 of every 100,000 births. Five genetic isolates are known with a high carrier frequency (up to 1:10) and incidence (up to 1:250 newborns): the Old Order Amish Community in Lancaster County, Pennsylvania, United States, the Oji-Cree First Nations in Manitoba and Western Ontario, Canada, the Irish Travelers in the Republic of Ireland and United Kingdom, the Lumbee in North Carolina, United States and the Xhosa in South Africa.", "related-disorders": "There are many rare disorders caused by enzyme deficiencies, so misdiagnosis is common for a GA1 patient. Differential diagnosis includes encephalitis, Reye’s syndrome, familial infantile bilateral striatal necrosis, familial megalocephaly, post encephalitic parkinsonism, dystonic cerebral palsy, battered child syndrome with chronic subdural effusions, sudden infant death syndrome and vaccine induced brain-injury. Increased levels of 3‐OH‐GA, typical in GA1 patients, have been found in patients with short‐chain 3‐hydroxyacyl CoA dehydrogenase (SCAD) deficiency, patients with renal insufficiency, in patients with disorders of long‐chain fatty acid oxidation and mitochondrial disorders, and in ketotic patients.", "diagnosis": "GA1 Is diagnosed by the characteristic metabolites GA, 3-OH-GA, glutaconic acid and glutarylcarnitine (C5DC) detected in body fluids (urine, plasma, CSF) and tissues using gas chromatography/mass spectrometry (GC/MS) or electrospray-ionization tandem mass spectrometry (MS/MS). As neonatal diagnosis and start of treatment significantly improves neurologic outcome, GA1 has been included in MS/MS based NBS disease panels in many countries worldwide.", "therapies": "Metabolic treatment"}
{"OrphaCode": "ORPHA:35706", "name_zh": "戊二酸血症3型", "Name": "Glutaric Aciduria Type II", "disease_name": "Glutaric Aciduria Type II", "synonyms": "electron transfer flavoprotein, deficiency of", "disease-overview": "Glutaric aciduria type II (GAII) is one of the conditions termed organic acidemias. Individuals with these conditions have a deficiency or absence of an enzyme that prevents the breakdown of certain chemicals (proteins and fats) in the body, resulting in the accumulation of several organic acids in the blood and urine. Two enzymes that may be deficient in GAII are electron transfer flavoprotein (ETF) and ETF-dehydrogenase (ETFDH). The severity of GAll varies widely among affected individuals. A complete enzyme deficiency causes a severe form of the disorder termed neonatal GAll that is associated with a short life span and, sometimes, with specific physical birth defects. Individuals with this form may be born with physical abnormalities including brain malformations, enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. The less severe form of the disorder is termed late onset GAll, which may appear in infancy, childhood, or even adulthood. Most often, GAll first appears in infancy or early childhood as a sudden episode of a metabolic crisis, that can cause weakness, behavior changes (such as poor feeding and decreased activity) nausea, vomiting and low blood sugar (hypoglycemia). GAII is an autosomal recessive genetic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.", "symptoms": "Signs and symptoms of GAII vary greatly depending on the age of onset and severity of the condition in each affected individual.", "causes": "Glutaric aciduria type II is an autosomal recessive disease caused by changes (mutations) in the ETF-A (subunit alpha), ETF-B (subunit beta) or ETFDH genes. The mutations result in deficient or complete absence of activity of multiple acyl-CoA dehydrogenase (MADD) enzymes needed to break down fats and proteins that the body uses for energy. This results in the accumulation of several organic acids in the blood and urine. Mutations in ETFA and ETFB generally cause the neonatal forms of this disorder and the ETFDH gene mutation is found in many late onset forms of GAII. Dysfunction of either ETF or ETFDH flavoproteins leads to compromised fatty acid oxidation and amino acid degradation that alters energy production as well as production of other molecules needed for fuel storage and use.", "affected": "Prevalence is estimated to be 1/200,000 and GAll affects both males and females. Prevalence in ethnicities is not known.", "related-disorders": "Glutaric aciduria type I is a rare hereditary metabolic disorder caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. Patients are usually well at birth but present during early infancy/childhood with an acute event of vomiting, seizures & reduced consciousness often in association with an infection such as a bad cold or gastroenteritis. The patient may have involuntary movements of the trunk and limbs (dystonia or athetosis), and intellectual disability may occur. (For more information on this disorder, choose glutaric aciduria I as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of GAll begins with examining urine organic acids. The characteristic pattern for glutaric aciduria is an elevation of a range of organic acids which may include glutaric, lactic, ethylmalonic, isovaleric, adipic,butyric, isobutyric, suberic & sebacic acids with a number of characteristic acylglycines. Blood acylcarnitine analysis by tandem mass spectrometry will show increases in a wide range of acylcarnitines from C4-C18. Some mildly affected individuals may not have an abnormal pattern of urine organic acids except when they are ill. Diagnosis of GAll can also be made by demonstrating reduced fatty acid oxidation in cultured fibroblasts obtained from a skin biopsy or by molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:32", "name_zh": "谷胱甘肽合成酶缺乏症", "Name": "Glutathione synthetase deficiency", "disease_name": "Glutathione Synthetase Deficiency", "synonyms": "Pyroglutamicaciduria", "disease-overview": "Glutathione synthetase deficiency is an extremely rare disorder characterized by a deficiency of the enzyme glutathione synthetase. This enzyme is part of the chemical process by which the body creates glutathione, a protein molecule that plays a role in many cell processes. Glutathione synthetase deficiency is often classified as mild, moderate or severe. Consequently, the specific symptoms and severity can vary greatly from one person to another. Generally, the mild form only affects red blood cells (erythrocytes). The severe form is widespread (generalized) affecting many types of cells of the body. The moderate form falls in between these two extremes. Glutathione synthetase deficiency is caused by alterations (mutations) in the GSS gene and is inherited in an autosomal recessive manner.", "symptoms": "Glutathione synthetase deficiency may be best thought of as a spectrum of disease ranging from mild to moderate to severe expression of the disorder. Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that each individual is unique. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Glutathione synthetase deficiency is caused by alterations in the GSS gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Glutathione synthetase deficiency affects males and females in equal numbers. More than 70 individuals from 50 families have been described in the medical literature. The exact incidence and prevalence are unknown. Because individuals may be misdiagnosed or go undiagnosed, determining the true frequency in the general population is difficult.", "related-disorders": "Symptoms of the following disorders may be similar to those of glutathione synthetase deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are numerous other conditions that cause elevated levels of 5-oxoproline in the urine (5-oxoprolinuria) including severe burns, Stevens-Johnson syndrome, nephropathic cystinosis, and various inborn errors of metabolism including 5-oxoprolinase deficiency, urea cycle disorders, tyrosinemia and homocystinuria. In some individuals, the use of certain drugs may cause 5-oxoprolinuria. Such drugs include paracetamol, vigabatrin, and certain antibiotics. Hemolytic anemia can occur in many different conditions including other disorders of glutathione metabolism including gamma-glutamylcysteine synthetase deficiency and glucose-6-phosphate dehydrogenase deficiency. (For more information, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "The treatment of glutathione synthetase deficiency is directed toward the specific symptoms that are apparent in each individual. Treatment will include sodium bicarbonate to correct the metabolic acidosis. Initially, this may require parenteral (e.g. intravenous) therapy. Eventually, affected individuals can be treated with sodium bicarbonate or citrate, delivered through the mouth (orally). Supplemental therapy with vitamins E and C, which have antioxidant properties, may also be given."}
{"OrphaCode": "ORPHA:371", "name_zh": "肌磷酸果糖激酶缺乏所致糖原贮积病", "Name": "Glycogen Storage Disease Type 7", "disease_name": "Glycogen Storage Disease Type 7", "synonyms": "GSD7", "disease-overview": "", "symptoms": "There are four types of GSD7:", "causes": "GSD7 is caused by harmful changes (mutations) in the gene for muscle phosphofructokinase (PFKM). This leads to problems with the function of phosphofructokinase enzyme, the protein that breaks down glycogen to glucose. This lowered enzyme activity results in a decreased amount of energy for muscles to use during exercise. This leads to muscle pain and cramps.", "affected": "GSD7 is a rare disease that is seen more often in individuals of Japanese and Ashkenazi (Eastern European) Jewish ancestry. GSD7 affects males and females in equal numbers. The condition is estimated to occur is less than 1/1,000,000 people.", "related-disorders": "Glycogen storage disease type 5 (McArdle disease or GSD5) is an inherited or genetic glycogen storage disease. In GSD5, symptoms are caused by a missing muscle enzyme called myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body’s form of stored energy) into sugar (glucose) in muscle. Autosomal recessive GSD5 symptoms can start in childhood or in adulthood. There is also a much rarer autosomal dominant form of GSD5. Symptoms of GSD5 are exercise intolerance, muscle cramping and dark, reddish brown-colored urine (myoglobinuria)", "diagnosis": "GSD7 is diagnosed by measuring the amount of the phosphofructokinase enzyme in a sample of muscle tissue taken from a muscle biopsy. It can also be diagnosed by measuring the phosphofructokinase enzyme level in red blood cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:364", "name_zh": "葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症", "Name": "Glycogen Storage Disease Type I", "disease_name": "Glycogen Storage Disease Type I", "synonyms": "glucose-6-phosphatase deficiency", "disease-overview": "Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of excessive glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities (mutations) in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB). These mutations result in enzyme deficiencies that block glycogen breakdown in affected organs causing excess amounts of glycogen and fat accumulation in the body tissues and low levels of circulating glucose in the blood. The enzyme deficiency also results in an imbalance or excessive accumulation of other metabolites, especially lactates, uric acid and fats like lipids and triglycerides.", "symptoms": "The primary symptom of GSDI in infancy is a low blood sugar level (hypoglycemia). Symptoms of GSDI usually begin at three to four months of age and include enlargement of the liver (hepatomegaly), kidney (nephromegaly), elevated levels of lactate, uric acid and lipids (both total lipids and triglycerides), and possible seizures caused due to repeated episodes of hypoglycemia. Continued low blood sugar can lead to delayed growth and development and muscle weakness. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen.", "causes": "Type I glycogen storage disease is associated with abnormalities in two genes. Mutations in the G6PC gene result in a deficiency in the glucose-6-phosphatase (G6Pase) enzyme and account for approximately 80% of GSDI. This type of GSDI is termed glycogen storage disease type Ia. Mutations in the SLC37A4 gene result in a deficiency in the glucose-6-phosphatase translocase enzyme (transporter deficiency) and account for approximately 20% of GSDI. This type of GSDI is termed glycogen storage disease type Ib. Both these enzyme deficiencies cause excess amounts of glycogen along with fats to be stored in the body tissues.", "affected": "Type I glycogen storage disease occurs in approximately 1 in 100,000 births. The prevalence of GSDI in Ashkenazi Jews is approximately 1 in 20,000. This condition affects males and females in equal numbers in any given population group.", "related-disorders": "Symptoms of the following disorders can be similar to those of glycogen storage disease type I. Detailed evaluations may be useful for a differential diagnosis:", "diagnosis": "Forbes or Cori disease (GSD-III) is one of several glycogen storage disorders that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excessive amounts of an abnormally digested glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and, in some cases, the heart. Symptoms become evident during the first years of life with hepatomegaly and/or myopathy, and elevated liver enzymes. In the first few months some symptoms may overlap with GSDI (elevated lipids, hepatomegaly, low glucose).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:366", "name_zh": "糖原脱支酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to glycogen debranching enzyme deficiency", "disease_name": "Glycogen Storage Disease Type III", "synonyms": "amylo-1,6-glucosidase deficiency", "disease-overview": "", "symptoms": "The median age at the first clinical presentations is in the first year of life. Most common presenting symptoms are enlarged liver (hepatomegaly) (98%), low blood sugar (hypoglycemia) (53%), failure to thrive (49%) and recurrent illness and/or infections (17%). Symptoms and signs of GSD-III, at least during the first 4 to 6 years of life, may be indistinguishable from GSD type I. The amount of glycogen in the liver and muscles is abnormally high, the liver is enlarged, and the abdomen protrudes. The muscles tend to be flaccid or weak.", "causes": "GSD-III is an inborn error of metabolism caused by mutations in the AGL gene that is located on chromosome 1p21. The AGL gene is responsible for the production of the debranching enzyme.", "affected": "All glycogen storage diseases together affect fewer than 1 in 40,000 persons in the United States. GSD-III has an incidence of about 1 in 100,000. The incidence of GSD-III is higher in North African Jews (± 1 in 5,400), Faroese (± 1 in 3,100) and the Inuit population in Nunavik, Canada (± 1 in 2,500).", "related-disorders": "The following diseases are similar to GSD-III. Comparisons may be useful for a differential diagnosis. Several GSD subtypes can be considered:", "diagnosis": "An enlarged liver and low blood sugar with high levels of ketones, transaminases, lipids and creatine kinase is indicative of GSD-III. Uric acid and fasting lactic acid levels are usually normal. In GSD-IIIb creatine kinase can be normal. Molecular genetic testing for mutations in the AGL gene can be used to confirm the diagnosis. Nowadays, liver and muscle biopsies are uncommon. In many countries besides the United States, studies in blood cells and skin fibroblasts are clinically available to confirm GDE deficiency.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:370", "name_zh": "磷酸化酶激酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to phosphorylase kinase deficiency", "disease_name": "Glycogen Storage Disease Type IX", "synonyms": "GSD-IX", "disease-overview": "", "symptoms": "GSD-IX is caused by deficiency of the enzyme phosphorylase kinase. The specific symptoms present, severity and prognosis can vary depending upon the subtype and the areas of the body affected. The symptoms and severity can vary even among individuals with the same mutation. In addition, some subtypes have only been reported in a handful of individuals, which prevents physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Individuals with the liver form of GSD-IX have a wide range of clinical symptoms ranging from less severe to more severe hepatic manifestations of the disease. Natural history studies are necessary to understand completely the long-term course and prognosis of GSD IX.", "causes": "Glycogen storage disease type IX is caused by mutations in the PHKA1, the PHKA2, the PHKB, or the PHKG2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation is present in a gene, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. For GSD-IX, these mutations can be inherited in either an autosomal recessive or X-linked manner.", "affected": "The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The X-linked forms primarily affect males, although females can have symptoms, such as enlargement of the liver and, more rarely, females can have symptoms similar to those seen in males. GSD-IX types A, B and C are estimated to affect 1 in 100,000 individuals in the general population. These disorders account for approximately 25% of all glycogen storage disorders making GSD-IX one of the most common forms of these disorders. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population. GSD-IXd is extremely rare and its prevalence is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of glycogen storage disease type IX. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of glycogen storage disease type IX is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:368", "name_zh": "肌糖原磷酸化酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency", "disease_name": "Glycogen Storage Disease Type V", "synonyms": "Glycogenosis Type V", "disease-overview": "Glycogen storage disease type V (GSD-V or McArdle disease) is the most common disorder of skeletal muscle carbohydrate metabolism and one of most frequent genetic myopathies (prevalence ~1:100000). Twelve different types of glycogen storage disease have been described (type 0, I-VII, IX, XI-XIII), which result from defects in glycogen synthesis and breakdown principally in the muscle and liver, although other tissues can also be affected. GSD-V is caused by the lack of the muscle glycogen phosphorylase (myophosphorylase) enzyme. Although symptoms typically begin during the first ten years of life, the age of diagnosis can vary significantly. The characteristic symptoms of GSD-V are exercise intolerance, myalgia (muscle pain), muscle stiffness and contractures, quick fatigue as well as hyperCKemia and myoglobinuria (dark, burgundy-colored urine due to the presence of myoglobin, a protein found in heart and muscles). These symptoms are usually caused by isometric or uninterrupted aerobic exercise. Currently, there is no cure for GSD-V.  To manage GSD-V, medical professionals suggest that people affected avoid intense exercise and a completely inactive lifestyle, but do engage in consistent, reasonable aerobic exercise.", "symptoms": "GSD-V is characterized by exercise intolerance. This typically consists in acute crises of early fatigue and muscle stiffness and contractures, especially at the start of the exercise, that usually disappear if exercise is stopped or the intensity is reduced. Symptoms usually present within the first ten years of life, but there is a wide range of clinical onset and severity. Some GSD-V patients have mild symptoms while another form progresses quickly and is apparent shortly after the person is born.  Progressively weak muscles, in some individuals, do not manifest until the age of sixty to seventy years old.", "causes": "GSD-V is caused by mutations in the PYGM (glycogen phosphorylase, muscle form) gene that codes for the myophosphorylase enzyme.  The PYGM gene is located on chromosome 11 at 11q13.", "affected": "GSD-V is very rare with only a few hundred cases reported in the medical literature. Some researchers believe that it is probably under-diagnosed because of the mildness of the symptoms. The neonatal, early-onset and very late-onset forms are even rarer. The prevalence of GSD-V in the Dallas-Fort Worth, TX area has been estimated at 1:100,000 and the prevalence in Spain has been reported at 1:170,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of GSD-V. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pompe Disease (GSD-II) is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). The infantile form is characterized by severe muscle weakness and abnormally diminished muscle tone (hypotonia) without muscle wasting, and usually manifests within the first few months of life. Additional abnormalities may include enlargement of the heart (cardiomegaly), the liver (hepatomegaly), and/or the tongue (macroglossia). Without treatment, progressive cardiac failure usually causes life-threatening complications by the age of 12 to 18 months. Pompe disease can also present in childhood, adolescence or adulthood, collectively known as late-onset Pompe disease. The extent of organ involvement may vary among affected individuals; however, skeletal muscle weakness is usually present with minimal cardiac involvement. Initial symptoms of late-onset Pompe disease may be subtle and may go unrecognized for years. Pompe disease is inherited as an autosomal recessive trait.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:369", "name_zh": "肝糖原磷酸化酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to liver glycogen phosphorylase deficiency", "disease_name": "Glycogen Storage Disease Type VI", "synonyms": "Hers disease", "disease-overview": "", "symptoms": "Symptoms vary from person to person, and people with GSD6 may not have all the symptoms listed. GSD6 is usually a relatively mild disorder, although rare cases with more severe symptoms have been reported.", "causes": "GSD6 is caused by harmful changes (mutations) in the PYGL gene. This gene is responsible for telling the body how to make an enzyme called liver glycogen phosphorylase. This enzyme is responsible for breaking down glycogen. Glycogen is a form of energy that comes from carbohydrates and is stored in the liver. When the body needs more energy, glycogen in the liver is broken down by the PYGL gene product, glycogen phosphorylase.", "affected": "Males and females are affected in equal numbers due to the autosomal recessive inheritance of GSD6. The incidence of all glycogen storage diseases is estimated to be between 1 in 20,000 and 1 in 25,000 persons in the United States. However, GSD6 is estimated to affect only 1 in 1,000,000 individuals in the general population. Because some affected individuals go undiagnosed or are misdiagnosed, it is difficult to determine the exact frequency of GSD6 in the general population. A higher occurrence of GSD6 has been seen in the Mennonite population, about 1 in 1,000 live births. There is a specific PYGL gene mutation that is present in about 3% of the Mennonite population which accounts for this higher incidence.", "related-disorders": "Symptoms of the following disorders can be similar to those of GSD6. Comparisons may be useful for a differential diagnosis:", "diagnosis": "GSD6 is diagnosed based on signs and symptoms of the disease, such as an enlarged liver, growth delay and hypoglycemia. The diagnosis can be confirmed by genetic testing of the PYGL gene. A liver biopsy that tests the function of liver glycogen phosphorylase may be necessary if the results of the genetic testing are not clear.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:488613", "name_zh": "全球发育迟缓-神经-眼异常-癫痫发作-智力障碍综合征", "Name": "GNB1-Related Disorder", "disease_name": "GNB1-Related Disorder", "synonyms": "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome", "disease-overview": "", "symptoms": "The most common signs and symptoms of GNB1-related disorder are developmental delays and intellectual disabilities, which can range from mild to severe. Intellectual disability is the most common characteristic, but it may not be recognized until the child attends school. Some people with GNB1-related disorder can talk and walk independently and others cannot.", "causes": "GNB1-related disorder is caused by a disease-causing variant or a likely disease-causing variant in the GNB1 gene.", "affected": "There are over 60 individuals reported in the world with GNB1-related disorder. The condition is not currently known to be more common in any specific population or ethnic group.", "related-disorders": "There are many different genetic conditions that have symptoms such as seizures and developmental delay that are present in children with GNB1-related disorder. Distinguishing this condition from other conditions based on signs and symptoms can be challenging.", "diagnosis": "Many genetic conditions are associated with developmental delays and seizures, so individuals with GNB1-related disorder are usually diagnosed with broad genetic tests such as whole exome sequencing or whole genome sequencing that look for variants in thousands of different genes. Gene panel tests that look for variants in a number or genes or analysis of the GNB1 gene only can also confirm the diagnosis, but these tests are ordered less frequently.", "therapies": "There is currently no cure for GNB1-related disorder. Treatment is based on managing the symptoms that are present in the patient with therapies that are known to be effective for those symptoms. Treatment should include developmental therapies, seizure medications as needed and early intervention services if needed. There is no specific anti-seizure medication recommended for individuals with GNB1-related disorder."}
{"OrphaCode": "ORPHA:602", "name_zh": "包涵体肌炎病", "Name": "GNE myopathy", "disease_name": "GNE Myopathy", "synonyms": "hereditary Inclusion body myopathy", "disease-overview": "", "symptoms": "GNE myopathy manifests between the second and third decade of life and is characterized by progressive muscle wasting often accompanied by severe incapacitation within 10 to 20 years after onset. Even at early stages of the disease, GNE myopathy patients exhibit a characteristic bilateral foot drop which is caused by weakness of the tibialis anterior muscle (one of the frontal muscles that is connected to the knee and the foot). Early stage muscle weakness in GNE myopathy patients can include disturbed gait and decreased stability, frequent falls, difficulty in climbing stairs, running and getting up from a seated position. Most patients end up wheelchair-bound within 10-20 years of disease onset. Lower limb muscles are affected first with the exception of the quadriceps which appears to be relatively spared. As the disease progresses, 5 to 10 years after the onset of symptoms, the majority of patients experience progressive weakness and loss of the upper limb muscles. In advanced stages of the disease, neck muscles can also be affected. 1, 10, 11 Ultimately, disease progression may result in complete loss of skeletal muscle function and dependence on caregivers 1, 12, 13", "causes": "GNE myopathy is caused by mutations in the GNE gene. This gene is responsible for the production of an enzyme needed to make SA. Patients consistently express lower levels of SA as clearly demonstrated by analyses performed on muscle biopsies. It is believed that the loss of SA is one of the main contributors in the typical muscle wasting observed in patients, although further studies are required to determine the specific mechanisms of action of the GNE enzyme in muscle. Mutations in GNE can occur anywhere along the sequence of the gene. The majority of mutations reported are so-called missense mutations. These are alterations of the genetic code that only produce a small change in the genetic sequence but affect the function of the GNE enzyme.", "affected": "Mutations in the GNE gene have been reported worldwide in approximately 4,000 patients although the incidence of the disease has been estimated to be 1-9/100,000 individuals (Orphanet; https://www.orpha.net/). This suggests that the vast majority (approximately 40,000) of GNE myopathy patients still remain undiagnosed. 1", "related-disorders": "Clinically, the diagnosis may be confused with other conditions, such as other distal myopathies, limb girdle muscular dystrophy, spinal muscular atrophy or Charcot-Marie-Tooth disease. As such, referral to a neuromuscular specialist is highly recommended.", "diagnosis": "Patients presenting with foot drop (young adults) and distal extremity muscle weakness (in individuals at more advance stages of the disease) are good candidates for GNE myopathy testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:329984", "name_zh": "杯状细胞癌", "Name": "Goblet cell carcinoma", "disease_name": "Goblet Cell Adenocarcinoma", "synonyms": "goblet cell carcinoma", "disease-overview": "", "symptoms": "At the time of diagnosis, GCAs can be either localized to the appendix or have spread to other parts of the body – particularly the abdomen. For GCAs that are localized, the most common signs and symptoms are those of acute appendicitis – namely right lower abdominal pain. For GCAs that have already spread away from the appendix, the most common presenting signs and symptoms are abdominal pain and a mass. Finding GCAs that have already spread at the time of diagnosis is more common in females and 15-30% are initially diagnosed as having an ovarian cancer. There is a clear attraction of GCAs to the ovary for a reason that is not yet known but it is under investigation.", "causes": "The exact cause of GCAs are unknown. One study has suggested a possible connection between schistosomiasis (a parasitic infection found in certain tropical and subtropical countries) and GCAs, however a causal relationship has not been established and the vast majority of GCAs occur in the absence of schistosomiasis. Recent studies have shown that GCAs do have a unique genomic profile distinct from adenocarcinomas and neuroendocrine tumors of the appendix, which may offer future targetable pathways for treatment. There are no genetic, familial or environmental factors known to cause this disorder. It does not run in families.", "affected": "GCAs are very rare with approximately 1 case per 2 million individuals. The average age at the time of diagnosis is most frequently reported between 50-60. While most studies have reported that males and females are affected in equal numbers, a few have suggested a slightly increased frequency in females (2-3:1). Advanced GCAs tend to present more frequently in females and 15-30% of females are initially diagnosed with an ovarian cancer. Less than 1% of GCAs are accurately diagnosed prior to surgery.", "related-disorders": "GCAs are a subtype of neoplasms (cancers and tumors) that can occur in the appendix. The general topic of appendiceal cancer and tumors is discussed in a separate Rare Disease Report.", "diagnosis": "Because there are no unique features of GCAs on imaging studies such as ultrasound, CT scan, PET scan or MRI, the diagnosis of GCA cannot be made until a tumor specimen is examined by a pathologist. This is frequently accomplished at the time of appendectomy for appendicitis, surgery for an intestinal blockage or presumed ovarian cancer. It can also be diagnosed during a tumor biopsy performed for an abnormal clinical or radiographic finding, such as a palpable tumor or tumors seen on an imaging study. GCAs tend to be easier to identify because of the unique combination of neuroendocrine and epithelial cells, although the presence of neuroendocrine cells is not required.", "therapies": "Once the diagnosis is established, a staging work-up including imaging studies (most commonly a CT scan of the chest, abdomen and pelvis) and tumor marker blood tests (CEA, CA 19-9 and CA 125) should be performed. (Tumor markers are proteins related to the cancer cells that can be measured in the blood.) Treatment recommendations depend on both the histology of the GCAs (the microscopic structure of the tumor cells) and whether it is localized or disseminated. Most of the larger and more recent studies of GCAs recommend surgical removal of the right side of the colon (right hemicolectomy) to ensure that all the disease has been removed and to test the regional lymph nodes for any cancer cells. Some also recommend removal of the ovaries in post-menopausal females given the affinity of these tumors for the ovaries. In very rare instances, when the tumor is localized to the appendix, low grade, and removed completely with an appendectomy, some may consider appendectomy alone, but this remains controversial."}
{"OrphaCode": "ORPHA:375", "name_zh": "抗肾小球基膜疾病", "Name": "Anti-glomerular basement membrane disease", "disease_name": "Goodpasture Syndrome", "synonyms": "Pneumorenal Syndrome", "disease-overview": "Goodpasture syndrome is a rare autoimmune disorder characterized by inflammation of the filtering structures (glomeruli) of the kidneys (glomerulonephritis) and excessive bleeding into the lungs (pulmonary hemorrhaging). Autoimmune syndromes occur when the body’s natural defenses (antibodies) against invading or foreign organisms begin to attack the body’s own tissue, often for unknown reasons. Symptoms of Goodpasture syndrome include recurrent episodes of coughing up of blood (hemoptysis), difficulty breathing (dyspnea), fatigue, chest pain, and/or abnormally low levels of circulating red blood cells (anemia). In many cases, Goodpasture syndrome may result in an inability of the kidneys to process waste products from the blood and excrete them in the urine (acute renal failure). In some cases of Goodpasture syndrome, affected individuals have had an upper respiratory tract infection before the development of the disorder. The exact cause of Goodpasture syndrome is not known.", "symptoms": "The major symptoms of Goodpasture syndrome are excessive bleeding into the lungs (pulmonary hemorrhaging) and inflammation of the filtering structures (glomeruli) or the kidneys (glomerulonephritis). In some cases, an upper respiratory tract infection may precede the development of the disorder. General symptoms associated with Goodpasture syndrome may include fever, nausea, and fatigue.", "causes": "Goodpasture syndrome develops due to unknown causes. Environmental factors such as hydrocarbon chemical exposure, cigarette smoke, or infections such as influenza may play a role in the development of the disorder. It is not known why simple infections can progress to Goodpasture syndrome in some people. When infection occurs, the body’s natural defenses (antibodies) fight the invading organisms (e.g., viruses or bacteria). In autoimmune disorders, antibodies attack healthy tissue for no apparent reason. Pulmonary hemorrhage has been frequently associated with smoking in individuals with Goodpasture syndrome.", "affected": "Goodpasture syndrome is a rare autoimmune disorder that appears to affect males more frequently than females. Age of onset is usually between 20 and 30, but individuals at any age may be affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of Goodpasture syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Wegener’s granulomatosis is an uncommon disorder characterized by inflammation of blood vessels (vasculitis) that results in damage to various organ systems of the body, most often the respiratory tract and kidneys. Symptoms may include ulcerations of the mucous membranes in the nose with secondary bacterial infection, a persistent runny nose, sinus pain, and chronic middle ear infection (otitis media) potentially resulting in hearing loss. In some cases, kidney abnormalities may progress to kidney failure, a serious complication. If the lungs are affected, a cough, expectoration of blood (hemoptysis), and inflammation of the thin membrane lining the outside of the lungs and the inside of the lung may be present. The exact cause of Wegener’s granulomatosis is not known. (For more information on this disorder, choose Wegener’s as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:376", "name_zh": "Gordon综合征", "Name": "Gordon syndrome", "disease_name": "Gordon Syndrome", "synonyms": "arthrogryposis multiplex congenita, distal, type IIA", "disease-overview": "", "symptoms": "Gordon syndrome is characterized by stiffness and impaired mobility of certain joints of the arms and legs (distal arthrogryposis) including the knees, elbows, wrists, and/or ankles. In most infants with this disorder, several fingers may be permanently fixed in a flexed position (camptodactyly), which may result in limitations in range of motion and manual dexterity. In addition, affected infants may exhibit abnormal bending inward of the foot (clubfoot or talipes). In severe instances, infants with Gordon syndrome may experience delays in walking.", "causes": "Gordon syndrome is caused by an alteration (mutation) in the PIEZO2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Gordon syndrome affects males and females in equal numbers. More than 40 people in five families (kindreds) have been reported in the medical literature. In most people, physical features associated with Gordon syndrome are obvious at birth (congenital).", "related-disorders": "Symptoms of the following disorders can be similar to those of Gordon syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In most people, Gordon syndrome is diagnosed at birth by a thorough clinical evaluation and the identification of characteristic physical findings. Many of the physical features associated with Gordon syndrome (e.g., camptodactyly, clubfoot, and/or cleft palate) are obvious at birth (congenital).", "therapies": "The treatment of Gordon syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, speech pathologists, physical therapists, and other health care professionals may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:73", "name_zh": "骨溶解症", "Name": "Gorham-Stout disease", "disease_name": "Gorham-Stout Disease", "synonyms": "disappearing bone disease", "disease-overview": "", "symptoms": "The symptoms of GSD depend upon the specific bones involved. The ribs, spine, pelvis, skull, collarbone (clavicle), and jaw are the most commonly affect bones in GSD. In some cases, affected individuals may rapidly develop pain and swelling in the affected area. In other cases, affected individuals may experience a dull pain or ache or generalized weakness that builds over time. Trauma is often a trigger of the initial presentation of the disease. Bones affected by GSD are prone to pathological fractures.", "causes": "The exact cause of GSD is unknown. No environmental, immunological or genetic risk factors have been identified. Most cases occur randomly for no known reason (sporadically).", "affected": "GSD usually affects children and young adults under the age of 40. However, the disorder has been reported in an infant less than one month old and an adult more than 70, suggesting GSD can potentially affect individuals of any age. Some medical sources state that males are affected more often than females. Other medical sources state that the ratio is even (1:1). More than 300 affected individuals have been reported in the medical literature. Because GSD is so rare, many cases go undiagnosed or misdiagnosed making it difficult to determine the disorder’s true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of GSD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "There is no specific test or procedure that definitively diagnoses GSD, which is partly a diagnosis of exclusion. A diagnosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including biopsies and specialized imaging techniques.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2095", "name_zh": "Gorlin-Chaudhry-Moss综合征", "Name": "Gorlin-Chaudhry-Moss syndrome", "disease_name": "Gorlin-Chaudhry-Moss Syndrome", "synonyms": "Craniofacial Dysostosis-PD Arteriosus-Hypertrichosis-Hypoplasia of Labia", "disease-overview": "Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or excessive amounts of hair (hypertrichosis) on most areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and/or toes; and/or underdevelopment (hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two large blood vessels that carry blood away from the heart (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait.", "symptoms": "Gorlin-Chaudhry-Moss syndrome is characterized by a mild delay in physical development (growth retardation), short stature, mild mental retardation, and several physical abnormalities.", "causes": "It is believed that Gorlin-Chaudhry-Moss syndrome may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). Approximately four cases have been reported in the medical literature. Although all reported cases have involved females, the true ratio of affected females to males is not known. The first case of Gorlin-Chaudhry-Moss syndrome was reported in the medical literature in 1960.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gorlin-Chaudhry-Moss syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Weill-Marchesani syndrome is a rare inherited disorder of the connective tissue. It is characterized by an abnormally short head (brachycephaly), round face, and pug nose; short fingers (brachydactyly); joint stiffness with limited extension; and short stature with a muscular, stocky build. In most cases, several eye abnormalities are present, including abnormally small, round lenses (microspherophakia) that tend to dislocate (ectopia lentis); loss of transparency of the lenses (cataracts); nearsightedness (myopia); and/or abnormally increased pressure in the fluid of the eye (glaucoma). It is believed that Weill-Marchesani syndrome may be inherited as an autosomal dominant or recessive genetic trait. (For more information on this disorder, choose Weill-Marchesani as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2500", "name_zh": "肢端早老症", "Name": "Acrogeria", "disease_name": "Gottron Syndrome", "synonyms": "acrogeria, Gottron type", "disease-overview": "", "symptoms": "The signs and symptoms of Gottron syndrome vary somewhat from one person to another. Because this condition is so rare, it is difficult to get a complete picture of the core features that define the syndrome.", "causes": "Gottron syndrome is a rare disorder that for which the mode of inheritance is still not well understood. There is evidence for both autosomal recessive and autosomal dominant inheritance patterns. Most often, a child with Gottron syndrome is the only affected person in the family.", "affected": "It is believed that Gottron syndrome may affect more females than males. While about 50 affected individuals have been reported in the medical literature, the exact number of people with this condition is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of Gottron syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "De Barsy syndrome is a rare genetic disorder characterized by a prematurely-aged appearance (progeroid) as well as skin that is loose and lacking elasticity (cutis laxa).The appearance of the infant appears prematurely aged-due to the underdevelopment of the skin and structures of the face (facial hypoplasia) which is further enhanced by wrinkled and saggy skin. Other notable facial features include a prominent forehead, thin lips, and large ears. This is often accompanied by eye abnormalities, intellectual disability as well as growth delays. Affected infants may also have diminished muscle tone (hypotonia). Signs and symptoms of de Barsy syndrome are usually evident in early infancy if not at birth. (For more information on this disorder, choose De Barsy syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:477673", "name_zh": "出生后小头畸形-小儿肌张力低下-痉挛性截瘫-构音障碍-智力障碍综合征", "Name": "GPT2 Deficiency", "disease_name": "GPT2 Deficiency", "synonyms": "alanine transaminase 2 (ALT2) deficiency", "disease-overview": "GPT2 deficiency (glutamate pyruvate transaminase 2 deficiency) is a genetic, neurological and metabolic disorder that results in intellectual disability and progressive motor dysfunction. This deficiency disrupts important biological processes necessary for proper brain growth. The developing brain relies on the creation and reinforcement of synapses, or connections, between neurons. This disease compromises those connections, resulting in fewer synapses and weaker brain circuits. GPT2 deficiency ultimately hinders brain development, causes metabolic abnormalities including deficiencies in metabolites that protect the nervous system, so patients tend to become more severely affected over time (neurodegenerative course).", "symptoms": "Individuals with GPT2 deficiency have been reported to have varying levels of intellectual disability. Most affected infants have low muscle tone (hypotonia) at birth and too much muscle tone (hypertonia) later in childhood. Most individuals experience progressive coordination and movement problems, including spastic paraplegia or diplegia around 8-10 years of age. Below is a list of reported and researched symptoms:", "causes": "GPT2 deficiency is caused by loss-of-function variants (mutations) in the GPT2 gene. This gene codes for the important mitochondrial enzyme glutamate pyruvate transaminase 2 (GPT2). Loss-of-function mutations reduce the capacity of important enzymes and proteins to carry out normal operation, sometimes with total inactivation. The GPT2 gene is expressed in the brain and helps regulate levels of metabolites central to proper development. Metabolites are tiny molecules that are responsible for proper cell growth, defense and function.", "affected": "GPT2 deficiency seems to affect males and females equally. Individuals with this condition are from a variety of countries across the globe and from many different ethnic backgrounds. GPT2 deficiency is currently considered an ultra-rare disease with a very small number of individuals reported with the mutations and it is often unrecognized or misdiagnosed. As genetic testing, specifically whole exome sequencing (WES), becomes more accessible, it will be possible to gain more information about affected populations.", "related-disorders": "GPT2 deficiency may appear in a differential diagnosis with other disorders that may be defined by intellectual and developmental disability, postnatal microcephaly and spastic paraplegia. This includes several different genetic forms of intellectual disability or complex spastic paraplegias.", "diagnosis": "Diagnosis of GPT2 deficiency must be confirmed through genetic testing. The GPT2 gene is included in certain genetic diagnostic panels and whole exome sequencing.", "therapies": NaN}
{"OrphaCode": "ORPHA:39812", "name_zh": "移植物抗宿主病", "Name": "Graft versus host disease", "disease_name": "Graft versus Host Disease", "synonyms": "GVHD", "disease-overview": "Graft versus Host Disease (GVHD) is a rare disorder that can strike persons whose immune system is deficient or suppressed and who have received a bone marrow transplant or a nonirradiated blood transfusion. Symptoms may include skin rash, intestinal problems and liver dysfunction.", "symptoms": "GVHD occurs most frequently after allogeneic bone marrow transplant and initially leads to dermatitis (a skin rash), gastrointestinal problems and liver dysfunction. In its chronic form involvement of mucosa (mouth and eyes) resembling sicca syndrome, lungs (resembling bronchiolitis obliterans) and the muskuloskeletal system (resembling myositis) is observed. GVHD affects about 60% of all bone marrow transplant but usually is limited and mild.", "causes": "GVHD is caused by donor T cells recognizing foreign antigens (histocompatibility or human leucocyte antigens) on the recipient’s cells and reacting to them. Prior to allogeneic bone marrow transplants recipients usually undergo myeloablative treatment with radiation or chemotherapy to destroy their own diseased bone marrow and weaken their immune system. When receiving the bone marrow or stem cell transplant, immunocompetent donor lymphocytes recognize foreign minor locus histocompatibility antigens on the recipient’s cells resulting in GVHD.", "affected": "GVHD affects males and females of all ages who have been immunosuppressed before being given a bone marrow transplant or a nonirradiated blood transfusion containing allogeneic lymphocytes. The risk of GVHD usually increases with the recipient’s age and with the degree of HLA differences between donor and recipient unless fully T-cell depleted.", "related-disorders": "Symptoms of the following disorders can be similar to those of Graft versus Host Disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:900", "name_zh": "肉芽肿性血管炎", "Name": "Granulomatosis with polyangiitis", "disease_name": "Granulomatosis with Polyangiitis", "synonyms": "GPA", "disease-overview": "Granulomatosis with polyangiitis (GPA) is a rare disorder characterized by inflammation of small- and medium-sized blood vessels (vasculitis) that results in damage to various organ systems of the body, most often the respiratory tract and kidneys. Symptoms may include ulcerations of the mucous membranes in the nose with secondary bacterial infection, a persistent runny nose, sinus pain, and chronic middle ear infection (otitis media) potentially resulting in hearing loss. In some individuals, kidney abnormalities may progress to kidney failure, a serious complication that requires dialysis or a kidney transplant. If the lungs are affected, a cough, coughing up of blood (hemoptysis), and inflammation of the thin membrane lining the outside of the lungs and the tissues inside of the lung may be present. Other symptoms can occur depending on which organ systems are affected in an individual.", "symptoms": "The specific symptoms and severity of the symptoms associated with granulomatosis with polyangiitis vary greatly from one person to another. Indeed, granulomatosis with polyangiitis has been described affecting almost all organ systems of the body.", "causes": "The exact cause of granulomatosis with polyangiitis is not fully understood. Because of the characteristic tissue changes seen in affected tissues, and increased immune response of the body, an abnormal immune reaction has been suggested as a possible basis for the disorder. Many researchers consider the disorder an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "Granulomatosis with polyangiitis is a rare disorder that affects males and females in equal numbers. In most people, onset is after the fourth or fifth decade of life; however, the disorder can occur at any age. There are some studies that suggest that girls are affected more often than boys when the disorder occurs in childhood. There are also studies that suggest that males are more likely to have severe disease, while females are more likely to have localized disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of granulomatosis with polyangiitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Microscopic polyangiitis (MPA), formerly known as microscopic polyarteritis, is another form of antineutrophil cytoplasmic antibodies-associated (ANCA-associated) vasculitis. MPA overlaps with granulomatosis with polyangiitis and the two disorders are often discussed together in the medical literature. Individuals with MPA have inflammation of small blood vessels in various organs of the body.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:525731", "name_zh": "小儿格雷夫斯病", "Name": "Graves’ Disease", "disease_name": "Graves’ Disease", "synonyms": "Basedow disease", "disease-overview": "Graves’ disease is a disease affecting the thyroid and often the skin and eyes. The thyroid is a gland and is part of the endocrine system, the network of glands that secrete hormones that regulate the chemical processes (metabolism) that influence the body’s activities as well as regulating the heart rate, body temperature, and blood pressure. Hormones are secreted directly into the bloodstream where they travel to various areas of the body. Graves’ disease is characterized by abnormal enlargement of the thyroid (goiter) and increased secretion of thyroid hormone (hyperthyroidism). Thyroid hormones are involved with many different systems of the body and, consequently, the specific symptoms and signs of Graves’ disease can vary widely from one person to another. Common symptoms include unintended weight loss, an abnormal intolerance of heat, muscle weakness, fatigue and protrusion or bulging of the eyeballs from their sockets. Graves’ disease is an autoimmune disease.", "symptoms": "Onset of the symptoms associated with Graves’ disease is usually gradual, often taking several weeks or months to develop. Symptoms may include behavioral changes such as nervousness, irritability, anxiousness, restlessness and difficulty sleeping (insomnia). Additional symptoms include unintended weight loss, muscle weakness, an abnormal intolerance to heat, increased sweating, a rapid, irregular heartbeat (tachycardia) and fatigue", "causes": "Graves’ disease is considered to be an autoimmune disorder, but other factors may contribute to its development, including genetic, environmental, and/or other factors.", "affected": "Graves’ disease affects females more often than males by a ratio of 5-10 to 1. The disorder usually develops during middle age with a peak incidence of 40-60, but can also affect children, adolescents and the elderly. Graves’ disease occurs in almost any part of the world. Graves’ disease is estimated to affect 2%-3% of the general population. Graves’ disease is the most common cause of hyperthyroidism.", "related-disorders": "Individuals with Graves’ disease often have a history of other family members with thyroid or autoimmune problems. Some relatives may have had hyperthyroidism or an underactive thyroid; others may have other autoimmune diseases including premature graying of the hair (beginning in their 20s). Similarly, there may be a history of related immune problems in the family, including juvenile diabetes, pernicious anemia (due to lack of vitamin B12) or painless white patches on the skin known as vitiligo.", "diagnosis": "A diagnosis of Graves’ disease is made based upon a detailed patient and family history, a thorough clinical evaluation, identification of characteristic findings, and specialized tests such as blood tests that measure the levels of thyroid hormone and thyroid-stimulating hormone. Blood tests to detect the presence of specific antibodies that cause Graves’ disease can be performed to confirm a diagnosis, but are usually not necessary.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:380", "name_zh": "Greig头多指（趾）综合征", "Name": "Greig cephalopolysyndactyly syndrome", "disease_name": "Greig Cephalopolysyndactyly Syndrome", "synonyms": "GCPS", "disease-overview": "Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the fingers and/or toes (cutaneous or osseous syndactyly), and/or additional abnormalities. Craniofacial malformations associated with this disorder may include a large and/or unusually shaped skull; metopic synostosis; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism); and/or other physical abnormalities. The range and severity of symptoms may vary greatly among affected individuals. In most individuals, GCPS is inherited in an autosomal dominant pattern.", "symptoms": "GCPS, a rare genetic disorder that is present at birth (congenital), is characterized by abnormalities of the fingers and toes (digits) and the head and facial (craniofacial) area. The range and severity of symptoms vary from individual to individual, with the facial characteristics, in particular, being quite subtle in some individuals.", "causes": "GCPS is caused by abnormal variants in the GLI3 gene. Most of the variants in GLI3 that cause the disorder are single nucleotide changes, deletions or insertions. Less commonly, affected individuals have larger insertions or deletions of the gene. Patients who have very large deletions that include GLI3, and neighboring genes are diagnosed with the Greig cephalopolysyndactyly contiguous gene syndrome. A few patients have the disorder because of a balanced chromosomal translocation. Regardless of the specific variant type, it is deletion and/or reduced expression of the GLI3 gene that leads to GCPS.", "affected": "GCPS affects males and females in equal numbers. There have been over 200 patients with this disorder reported in the medical literature. However, because some affected individuals may exhibit few and/or mild symptoms, they may never be diagnosed with the disorder. Therefore, it is difficult to determine the true frequency of GCPS in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Greig cephalopolysyndactyly syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "GCPS is usually diagnosed at birth based upon a thorough clinical evaluation; identification of characteristic physical findings; and specialized imaging procedures, including X-rays and computed tomography (CT) scanning. In pregnancies at 50% risk, GCPS may be detected before birth by observing extra fingers or toes (polydactyly) and an enlarged skull (macrocephaly) during ultrasound imaging. During ultrasonography, reflected sound waves create images of the developing fetus. There are other prenatal testing methods available, such as analyzing the fetal cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:631", "name_zh": "非获得性孤立型生长激素缺乏症", "Name": "Growth Hormone Deficiency", "disease_name": "Growth Hormone Deficiency", "synonyms": "", "disease-overview": "Growth hormone deficiency (GHD) is a rare disorder characterized by the inadequate secretion of growth hormone (GH) from the anterior pituitary gland, a small gland located at the base of the brain that is responsible for the production of several hormones. GHD can be present from birth (congenital), resulting from genetic mutations or from structural defects in the brain. It can also be acquired later in life as a result of trauma, infection, radiation therapy, or tumor growth within the brain. A third category has no known or diagnosable cause (idiopathic). Childhood-onset GHD may be all three: congenital, acquired, or idiopathic. It results in growth retardation, short stature, and maturation delays reflected by the delay of lengthening of the bones of the extremities that is inappropriate to the chronological age of the child. Adult-onset GHD is most often is acquired from a pituitary tumor or trauma to the brain but may also be idiopathic. It is characterized by a number of variable symptoms including reduced energy levels, altered body composition, osteoporosis (reduced bone mineral density), reduced muscle strength, lipid abnormalities such as increased LDL cholesterol, insulin resistance, and impaired cardiac function. Treatment for GHD requires daily injections of recombinant human growth hormone (rHGH). Patients with GHD that have no known cause are diagnosed as having idiopathic GHD. Genetic tests may reveal a congenital anomaly, but are often considered unnecessary after confirmation of GHD since they will have no effect on treatment. However, it is recommended that children be retested for GHD when they transition from pediatric to adult care since GH levels may normalize upon reaching adulthood. The level of GH considered normal for an adult is much lower than that for a child, especially one undergoing the pubertal growth spurt.", "symptoms": "A child with GHD is usually of normal size at birth. A few children may become hypoglycemic (low blood sugar) during the newborn period. Males may have a small penis (micropenis). Later, children with GHD may present with delayed rates of development of facial bones, slow tooth eruption, delayed lengthening of long bones, fine hair, and poor nail growth. They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.", "causes": "Congenital GHD results from genetic error, and may be associated with brain structure defects or with midline facial defects such as a cleft palate or single central incisor.", "affected": "Prevalence and incidence data vary widely due to the lack of standard diagnostic criteria. While congenital GHD and most cases of idiopathic GHD are thought to be present from birth, diagnosis is often delayed until the patient’s short stature is noticed in relation to their peers. Diagnosis most often occurs during two age ranges. The first is around 5 years of age when children begin school. The second is around 10-13 years old in girls and 12-16 years in boys associated with the delay in the pubertal growth spurt.", "related-disorders": "Symptoms of the following disorders can be similar to those of Growth Hormone Deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Small for gestational age (SGA) generally describes any infant whose birth weight and/or length was less than the 3rd percentile (adjusted for prematurity). Children with SGA are shorter and thinner than his or her peers. Typical characteristics for these children include low birth weight, short birth length, inadequate catch-up growth in first two years, persistently low weight-for-height proportion, and lack of muscle mass and/or poor muscle tone. The FDA has approved growth hormone therapy as long-term treatment of children who were born SGA and who have not achieved catch-up growth by two years of age.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:181393", "name_zh": "生长激素不反应性综合征", "Name": "Growth Hormone Insensitivity", "disease_name": "Growth Hormone Insensitivity", "synonyms": "GHI", "disease-overview": "", "symptoms": "There is a wide range of effects depending on the gene mutations involved (see Causes section). The very few individuals with IGF-I gene mutation have severe intellectual disability and intrauterine growth failure, with deafness and micrognathia. GHRD results in severe growth failure without deleterious effects on intrauterine growth or brain development, and the mutation of STAT5b, responsible for an important activator protein, has similar growth effects but is also associated with severe impairment of immunocompetence. The IGFALS mutation, affecting an important stabilizing component of the circulating IGF-I, while associated with very low circulating IGF levels, has only modest effects on growth.", "causes": "GHI is inherited as an autosomal recessive genetic disorder and caused by mutation of the GHR gene or mutations in the genes involved in the action pathway within the cell after GH binds to its receptor, including STAT5b, IGF-1, and IGFALS.", "affected": "Worldwide, only about 300 cases of GHI due to GHRD have been reported. The ethnic background for most (90%) of the reported cases is known. About 65% of patients have Middle Eastern ancestry and a group of Ecuadorian conversos. (Conversos are Jews who converted to Christianity in Spain during the Inquisition, some of whom migrated to the New World) Subsequently, marriage among close relatives made the disorder more common among the descendants of these groups. STAT5b, IGF-1 and IGFALS mutations have been reported in only a few families.", "related-disorders": "Symptoms of the following disorders can be similar to those of GHI. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In addition to the genetic forms of GHI, failure to have a normal growth response despite adequate GH production is characteristic of a number of conditions including chronic illness, undernutrition, kidney disease, liver disease, and congenital syndromes. These conditions are often referred to as secondary GHI.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:382", "name_zh": "乙酸胍转甲基酶缺乏症", "Name": "Guanidinoacetate methyltransferase deficiency", "disease_name": "Guanidinoacetate Methyltransferase Deficiency", "synonyms": "GAMT deficiency", "disease-overview": "", "symptoms": "The severity of GAMT varies from patient to patient. Global developmental delays affect all individuals with this disorder and may be the first sign, appearing before other symptoms. Most individuals with GAMT deficiency have intellectual disabilities, seizure disorders, muscle weakness, behavior disorders and movement disorders. People with GAMT may have weak muscle tone and delayed development of motor skills such as sitting or walking. Severely affected patients may lose previously acquired skills such as the ability to support their head or to sit unsupported.", "causes": "GAMT deficiency is a caused by changes (called variants or mutations) in the GAMT gene that makes the enzyme that creates creatine, resulting in a shortage of creatine. It is the most severe of the three CCDS due to the elevation of guanidinoacetate (which is neurotoxic) in addition to creatine deficiency. Affected individuals may demonstrate cerebral creatine deficiency on MR spectroscopy and high GAA in plasma.", "affected": "The prevalence of GAMT deficiency has been estimated to be from 1 out of 250,000 to 1 out of 550,000 patients being diagnosed. As of 2015, there have only been 110 individuals with GAMT deficiency diagnosed worldwide.", "related-disorders": "GAMT deficiency patients are frequently misdiagnosed with cerebral palsy as infants and toddlers. Children are often misdiagnosed with autism or global developmental delays.", "diagnosis": "Testing in both urine and plasma is recommended by measuring the concentration of creatine (Cr), guanidinoacetate (GAA), and creatinine (Crn). A positive screen for GAMT is based on plasma GAA that is elevated with creatine being low and urine GAA that is elevated and creatine being low to normal. Urine testing might be normal in young children, for which plasma testing is recommended.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2103", "name_zh": "吉兰巴雷综合征", "Name": "Guillain-Barré syndrome", "disease_name": "Guillain-Barré Syndrome", "synonyms": "acute polyneuritis", "disease-overview": "Introduction", "symptoms": "Weakness usually begins in the legs and spreads to the arms and body. Sometimes it spreads to the face, throat and breathing muscles. In up to a quarter of people with GBS, the breathing muscles become so weak that a breathing machine (respirator) is needed. Tingling feelings, pins and needles, and numbness (loss of feeling) are common. These are due to damage to the sensory nerves that signal feeling from the skin and joints. The abnormal feelings are usually worst in the feet and hands. The tingling may be painful, and the muscles may hurt. The symptoms usually worsen for the first two weeks, but progression may last as little as one day or as long as four weeks. Symptoms usually affect both sides of the body equally.", "causes": "The cause of GBS is inflammation of the peripheral nerves. These nerves normally take messages to and from the skin and muscles to the brain and spinal cord. There is strong evidence that the cause is autoimmune. The immune system produces an immune response to an infection which cross-reacts with the nerves. It usually reacts with and damages the outer coating sheath of the nerve fibers, called myelin. In more severely affected people, this damage also affects the central conducting core of the nerve, called the axon. In some people, the axon is itself the main target of the autoimmune response.", "affected": "", "related-disorders": "Some people have a similar illness but lack some characteristic features or have additional features. For instance, Miller Fisher syndrome has three main features:", "diagnosis": "Guillain-Barré syndrome is only one of many causes of acute weakness and numbness. The diagnosis requires recognition of the characteristic symptoms and signs. Because the disease is rare, diagnosis may be difficult for the non-specialist and referral to a neurologist is usually appropriate. Clinical examination shows loss of tendon reflexes and supports the diagnosis of peripheral nerve disease. Two tests are commonly used to support the diagnosis:", "therapies": "The most important parts of treatment are general medical and nursing care, physiotherapy and rehabilitation. Because of the risks of breathing failure and heart-beat instability in the acute stage, people with severe disease need to be monitored for pulse and breathing. If breathing becomes difficult, mechanical ventilation with a breathing machine in an intensive care unit becomes necessary. For this, a special plastic tube, called an endotracheal tube, connects the person to the breathing machine via the mouth or nose. If mechanical ventilation lasts more than a few days, it is more comfortable to put the tube in the throat by making a small opening in the windpipe for this purpose (an operation called a tracheostomy). After recovery, the tube is removed and the opening gradually closes on its own. Difficulty swallowing requires insertion of a thin plastic tube through the nose into the stomach for feeding and drinking. Medicines and nursing measures treat pain and reduce the risk of veins clotting, bed sores and constipation. Physical therapy helps muscle strength and function and prevents muscle shortening and joint stiffness. When people become medically stable, they often move to a rehabilitation center for physical and occupational therapy. Psychological support is important throughout the illness."}
{"OrphaCode": "ORPHA:2841", "name_zh": "家族性良性慢性天疱疮", "Name": "Hailey-Hailey disease", "disease_name": "Hailey-Hailey Disease", "synonyms": "benign chronic familial pemphigus", "disease-overview": "", "symptoms": "The symptoms and severity of Hailey-Hailey disease varies from one person to another, even among members of the same family. In most cases, there is a family history of the disorder.", "causes": "Hailey-Hailey disease is caused by a change (variant or mutation) in the ATP2C1 gene. The ATP2C1 gene contains instructions for creating (encoding) a protein that acts as a calcium and magnesium pump in the cells. This protein pumps calcium or magnesium ions into a specialized organelle in the cell known as the Golgi apparatus. Calcium ions play an essential role in cell-to-cell adhesion and, when the calcium pump does not function properly, the affected cells will not stick together, damaging the skin (acantholysis). The exact process by which loss or improper function of the protein product of the ATP2C1 gene causes Hailey-Hailey disease is not fully understood, although recent studies suggest that Hailey-Hailey disease and the related diseases, Darier’s disease (see below) and Grover’s disease share defects in a central structural system of actin organization. The ATP2C1 protein is most active in keratinocytes, the main cell type of the outermost layer of skin (epidermis). Failure of keratinocytes to stick together results in the blistering seen in the disease.", "affected": "Hailey-Hailey disease affects males and females in equal numbers. According to one estimate, the disorder affects 1 in 50,000 people in the general population. Hailey-Hailey disease often goes misdiagnosed or undiagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hailey-Hailey disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Hailey-Hailey disease is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests including the surgical removal and microscopic examination (biopsy) of affected skin tissue. A biopsy may reveal abnormal formation of keratin tissue (keratinization) and failure of cell-to-cell adhesion (acantholysis). Blood tests in individuals with Hailey-Hailey disease will fail to detect antibodies, which rules out autoimmune disorders such as pemphigus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2342", "name_zh": "Haim-Munk综合征", "Name": "Haim-Munk syndrome", "disease_name": "Haim-Munk Syndrome", "synonyms": "Cochin Jewish Disorder", "disease-overview": "Haim-Munk syndrome is a rare genetic disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryposis), and degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in the premature loss of teeth. Additional features associated with the disorder may include flat feet (pes planus); abnormally long, slender fingers and toes (arachnodactyly); loss of bone tissue at the ends of the fingers and/or toes (acroosteolysis); and/or other physical findings. Haim-Munk syndrome is inherited as an autosomal recessive trait.", "symptoms": "Haim-Munk syndrome is a rare inherited disorder characterized by the development of dry scaly patches of skin that are abnormally red and thickened on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Such patches may appear around the age of one to five years. However, in some cases, hyperkeratosis may be present at birth (congenital). These reddened patches are usually confined to the undersides of the hands and feet, but may eventually spread to the knees and elbows. In some rare cases, the upper portions of the hands and feet, the eyelids, the lips, and the cheeks may also be affected. Affected individuals also may have frequently recurring, pus-producing (pyogenic) skin infections.", "causes": "Haim-Munk syndrome is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Haim-Munk syndrome is a rare genetic disorder that affects males and females in equal numbers. The disorder is named after the investigators (Haim S, Munk J) who originally reported the disease entity in 1965 among members of an extended Jewish family (kindred) from Cochin, India. Since then, the disorder has been described in over 50 individuals in several multigenerational Jewish families in Cochin. It has sometimes been referred to as Cochin Jewish disorder.", "related-disorders": "Symptoms of the following disorders may be similar to those of Haim-Munk syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of Haim-Munk syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings. In some cases, skin abnormalities, including characteristic red, scaly thick patches of skin (hyperkeratosis) on the palms of the hands and the soles of the feet, may be apparent at birth (congenital) or during infancy. In most cases, Haim-Munk syndrome may not be firmly distinguished from other disorders with similar skin abnormalities until the inflammation and degeneration of the tissues surrounding and supporting the teeth (periodontium) becomes apparent. This usually occurs between the third and fifth year of life, when the infant teeth (deciduous) begin to erupt.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:58017", "name_zh": "经典型毛细胞白血病", "Name": "Hairy Cell Leukemia", "disease_name": "Hairy Cell Leukemia", "synonyms": "HCL", "disease-overview": "General Discussion", "symptoms": "Onset of hairy cell leukemia is usually gradual. Symptoms are nonspecific and may include a general feeling of ill health (malaise), fatigue, weakness, fever, night sweats, and/or weight loss. In addition, affected individuals may experience abdominal pain and a feeling of abdominal fullness due to an abnormally enlarged spleen (splenomegaly).", "causes": "The exact cause of hairy cell leukemia is unknown.", "affected": "Hairy cell leukemia is a rare disorder that affects males four times more often than females (M4:F1). Hairy cell leukemia affects about 6,000 persons in the United States. Approximately 600-800 new cases are diagnosed each year. Most of the affected individuals are males 50 years of age or older. However, the disorder may occur in individuals between 20 to 80 years of age.", "related-disorders": "Leukemia is a form of cancer affecting the bone marrow and blood. It is characterized by the uncontrolled accumulation of cancerous blood cells. Acute forms of leukemia often result in low levels of red and white blood cells and platelets (pancytopenia). (For more information, choose leukemia as your search term in the Rare Disease Database.)", "diagnosis": "", "therapies": "Until recently, treatment of hairy cell leukemia consisted of surgically removing the spleen (splenectomy). In rare cases, in which individuals do not respond to drug treatments, a splenectomy may still be performed. Chemotherapy drugs, specifically purine analogs such as cladribine and pentostatin, are now the initial treatment option for most individuals with hairy cell leukemia. Those who do not have any symptoms may not need treatment right away."}
{"OrphaCode": "ORPHA:955", "name_zh": "肢端骨质溶解外显型", "Name": "Hajdu Cheney Syndrome", "disease_name": "Hajdu Cheney Syndrome", "synonyms": "acro-dento-osteo-dysplasia", "disease-overview": "", "symptoms": "The signs and symptoms of Hajdu-Cheney syndrome can vary greatly among affected individuals. The disorder is present at birth (congenital), but in some individuals the signs and symptoms may be more apparent during adolescence and adulthood.", "causes": "Hajdu-Cheney syndrome is associated with a change (variant or mutation) in the NOTCH2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant of a gene occurs, the protein product may be faulty, inefficient, absent or have increased function. When there is increased function, this is called a gain-of-function variant. In Hajdu-Cheney syndrome there is a gain of NOTCH2 protein function and increased activity of the protein. Depending upon the functions of the protein, and where the protein is made can affect many organ systems of the body.", "affected": "Hajdu-Cheney syndrome is an extremely rare disorder. More than 80 affected individuals have been described in the medical literature. The exact prevalence or incidence of the disorder is unknown. Rare disorders often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hajdu-Cheney syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Hajdu-Cheney syndrome is based upon the identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized imaging tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2108", "name_zh": "Hallermann-Streiff综合征", "Name": "Hallermann-Streiff syndrome", "disease_name": "Hallermann-Streiff Syndrome", "synonyms": "Francois dyscephaly syndrome", "disease-overview": "", "symptoms": "Associated symptoms and signs vary greatly in range and severity from case to case. The principal features of Hallermann-Streiff syndrome include abnormalities of the skull (cranium) and certain bones of the face (known as dyscephaly); distinctive facial features; ocular defects; dental anomalies; and/or proportionate short stature. In many cases, additional abnormalities are also present.", "causes": "In almost all reported cases, Hallermann-Streiff syndrome has occurred randomly for unknown reasons (sporadically), most likely due to a new spontaneous dominant genetic change (mutation). There have been reports of patients with this disorder reproducing successfully and bearing multiple normal children. From families with an affected child, there is little evidence for this being a recessively inherited disorder in which both parents are carriers (normal looking but carry the mutation). Therefore, the mode of inheritance of this disorder remains elusive making it difficult to determine the exact recurrent risk.", "affected": "Hallermann-Streiff syndrome appears to affect males and females in relatively equal numbers. More than 150 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hallermann-Streiff syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hutchinson-Gilford progeria syndrome is a very rare progressive disorder of childhood characterized by premature aging (progeria); growth delays occurring in the first year of life resulting in short stature and low weight; deterioration of the layer of fatty tissue beneath the skin (subcutaneous lipodystrophy); and characteristic craniofacial abnormalities including an abnormally small face, underdeveloped jaw (micrognathia), unusually prominent eyes, and/or a small, beak-like nose. In addition, during the first year or two of life, scalp hair, eyebrows, and eyelashes may become sparse, and veins of the scalp may become unusually prominent. Additional symptoms and physical findings may include joint stiffness, repeated non-healing fractures, a progressive aged appearance, delays in tooth eruption (dentition), and/or malformation and crowding of the teeth. Individuals with the disorder typically have normal intelligence. In most cases, affected individuals develop premature, widespread thickening and loss of elasticity of arterial walls (arteriosclerosis), potentially resulting in life-threatening complications. Hutchinson-Gilford progeria syndrome is due to a de novo heterozygous mutation in the lamin A gene (LMNA) on chromosome 1q22. (For more information on this disorder, choose Hutchinson Gilford as your search term in the Rare Disease Database) Other disorders with less severe, but overlapping features include mandibuloacral dysplasia, an autosomal recessive disorder, which is caused by different mutations in the LMNA gene or the ZMPSTE24 gene, and Werner syndrome, an autosomal recessive progeroid syndrome caused by autosomal recessive mutations in the RECQL2 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:989", "name_zh": "缺舌-缺指综合征", "Name": "Hypoglossia-hypodactyly syndrome", "disease_name": "Hanhart Syndrome", "synonyms": "aglossia-adactylia", "disease-overview": "", "symptoms": "The craniofacial abnormalities in children with Hanhart syndrome can include a small mouth (microstomia); small jaw and deeply receding jaw (micrognathia); shorty, incompletely developed tongue (hypoglossia); cleft palate; cleft tongue; broad nose; increased distance between the inner corners of the eyelids (telecanthus); lower eyelid defects; facial asymmetry; and partial absence of the jaw (mandibular hypodontia).", "causes": "The exact cause of Hanhart syndrome is not known. Cases tend to occur randomly, with no apparent cause (sporadic). Some researchers believe that the disorder, which has been reported in the children of blood relatives (consanguinity) in a number of cases, may be inherited in an autosomal recessive pattern.", "affected": "Hanhart syndrome is a very rare developmental disorder that affects males and females in equal numbers. Fewer than 1 in 20,000 children are affected with this disorder. Approximately 30 cases of Hanhart syndrome were reported in the medical literature from 1932 to 1991.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hanhart syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Oromandibular-limb hypogenesis syndrome is the name sometimes used to describe a group of rare disorders that are all characterized by underdevelopment (hypogenesis) of the mouth and jaw (oromandibular) areas, the limb buds, and possibly other areas in the developing embryo. This group of disorders includes Hanhart syndrome, ankyloglossum superiorsyndrome, Charlie M syndrome, and Moebius syndrome. Some researchers believe that these are overlapping disorders or disease variants representing a spectrum of malformations caused by environmental or other factors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:319247", "name_zh": "汉坦病毒肺综合征", "Name": "Hantavirus Pulmonary Syndrome", "disease_name": "Hantavirus Pulmonary Syndrome", "synonyms": "HCPS (hantavirus cardiopulmonary syndrome)", "disease-overview": "Hantavirus pulmonary syndrome (HPS) is an infectious disease caused by hantaviruses (Sin Nombre hantavirus in most of the US). Transmission occurs when direct or indirect (airborne) contact is made with the saliva or waste products of rodents that carry the virus, most commonly the deer mouse (Peromyscus maniculatus). Initial symptoms may include fever, muscle aches (myalgias), headache, cough, and/or difficulty breathing. Symptoms progress rapidly, and abnormally low blood pressure (hypotension), shock, and/or respiratory failure may occur.", "symptoms": "The initial symptoms of HPS most commonly include fever, muscle aches (myalgias), headache, and/or cough. Chills, abdominal pain, diarrhea, and/or a sense of overall discomfort (malaise) may be present. Other symptoms usually include shortness of breath, rapid breathing (tachypnea), rapid heartbeat (tachycardia), dizziness, and sometimes joint pain (arthralgia), back and/or chest pain, and/or sweating.", "causes": "HPS in the US is mostly caused by Sin Nombre Hantavirus, a newly identified virus within the Bunyaviridae family. The virus is carried by the deer mouse (Peromyscus maniculatus). The deer mouse can be found in most parts of the United States, except the southeast. Not all deer mice are infected with Sin Nombre hantavirus, and those that do carry the virus do not appear to be affected by any associated disease.", "affected": "HPS appears to affect males and females in equal numbers. Approximately half of the cases reported in the medical literature have affected Native Americans, and the majority of the remaining reported cases affected Caucasians. The population affected by HPS appears to be related to geographic location and exposure to rodent droppings as opposed to ethnic background. Because many of the documented cases have occurred in the southwestern United States, a high percentage of the initially affected individuals were Native Americans. As the virus was found in others parts of the US, many others of varied ethnic backgrounds have been affected throughout the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hantavirus Pulmonary Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are many types of pneumonia that can be caused by bacteria or virus. In general the symptoms of pneumonia are similar to those of Hantavirus Pulmonary Syndrome. Only laboratory testing can determine which disease is affecting an individual.", "therapies": "It is important to avoid areas where deer mice leave their droppings, such as storage sheds, basements, and wood piles. When exposed to mouse droppings, an individual should wear a face mask that covers both nose and mouth, as well as rubber gloves. The area should be sanitized with disinfectant to avoid aerosolization of potentially infected dust. People who exhibit flu-like symptoms after exposure to mouse droppings should be taken to a hospital immediately, because this disorder progresses over a matter of hours, and every hour is crucial."}
{"OrphaCode": "ORPHA:457", "name_zh": "花斑眼镜蛇样鱼鳞病", "Name": "Harlequin ichthyosis", "disease_name": "Harlequin Ichthyosis", "synonyms": "harlequin fetus", "disease-overview": "Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited in an autosomal recessive pattern.", "symptoms": "Infants with Harlequin ichthyosis are covered in thick plate-like scales of skin. The tightness of the skin pulls around the eyes and the mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings. The chest and abdomen of the infant may be severely restricted by the tightness of the skin, making breathing and eating difficult. The hands and feet may be small and swollen, and partially flexed. The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin. Infants born with harlequin ichthyosis may also have a flat nose (depressed nasal bridge), abnormal hearing, frequent respiratory infections, and decreased joint mobility.", "causes": "Harlequin ichthyosis is caused by changes (mutations) in the ABCA12 gene, which gives instructions for making a protein that is necessary for skin cells to develop normally. It plays a key role in the transport of fats (lipids) to most superficial layer of the skin (epidermis), creating an effective skin barrier. When this gene is mutated, the skin barrier is disrupted.", "affected": "Harlequin ichthyosis affects males and females in equal numbers. This condition affects approximately one in 500,000 persons or about seven births annually in the United States.", "related-disorders": "Symptoms of the following disorder may be similar to harlequin ichthyosis.", "diagnosis": "Harlequin ichthyosis is diagnosed at birth based on the child’s physical appearance. Prenatal testing may be possible by testing fetal DNA for mutations in the ABCA12 gene. In addition, some of the features of harlequin ichthyosis maybe seen on ultrasound during the second trimester and onward.", "therapies": "A multi-disciplinary team is involved in the care of infants with harlequin ichthyosis as soon as they are born. This has been shown to improve outcomes and reduce complications such as respiratory distress, dehydration, electrolyte imbalances, impaired thermoregulation, systemic bacterial infections, and feeding difficulties. Early treatment with oral retinoids is also thought to improve outcomes. However, they are only used in severe cases due to their known toxicity and side effects."}
{"OrphaCode": "ORPHA:2116", "name_zh": "Hartnup病", "Name": "Hartnup disease", "disease_name": "Hartnup Disease", "synonyms": "Hartnup disorder", "disease-overview": "Hartnup disease is a rare genetic disorder that involves an inborn error of amino acid metabolism. The disorder is characterized by a distinctive skin rash and in a few reported patients was accompanied by episodes of neurological involvement including an inability to coordinate voluntary movements (ataxia), vision problems and cognitive delays. The symptoms associated with this disorder may be triggered by fever, drugs or situations when an affected individual is under emotional or physical stress such as during an illness. Generally, the frequency of such episodes usually diminishes with age. Hartnup disease is caused by changes (variants or mutations) in the SLC6A19 gene and is inherited in an autosomal recessive pattern.", "symptoms": "The symptoms of Hartnup disease vary greatly from one person to another. Most affected individuals do not have any apparent symptoms (asymptomatic). When symptoms do develop, they most often occur between the ages of 3-9. In rare instances, symptoms first appear in adulthood.", "causes": "Hartnup disease is caused by disease-causing variants in the SLC6A19 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Hartnup disease affects both males and females in equal numbers. The disorder usually begins in childhood and continues into adulthood. The number of people affected by Hartnup disease is unknown. It has been estimated to occur at a frequency of approximately one in 30,000 individuals based upon newborn screening results in the United States and Australia.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hartnup disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Loss of collectrin, which is required for transportation and activation of SLC6A19 in the kidney has been reported in two patients with symptoms that are very similar to Hartnup disease. Both presented with neuropsychiatric symptoms including autistic features, anxiety, depression, compulsions and motor tics. Due to amino acids appearing in urine, both were initially diagnosed with Hartnup disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:288", "name_zh": "遗传性椭圆形红细胞增多症", "Name": "Hereditary elliptocytosis", "disease_name": "Hashimoto Encephalopathy", "synonyms": "HE", "disease-overview": "Hashimoto encephalopathy is a rare disorder characterized by impaired brain function (encephalopathy). The exact cause is unknown, but it is believed to be an immune-mediated disorder or a disorder in which there is inflammation resulting from abnormal functioning of the immune system. Affected individuals have the presence of antithyroid antibodies in their body. Antibodies are part of the immune system; they are specialized proteins that target foreign or invading organisms. Antithyroid antibodies are ones that mistakenly target thyroid tissue. However, it is unclear whether these antibodies play any role in the development of Hashimoto encephalopathy or are a coincidental finding. The main signs and symptoms are related to the encephalopathy. The onset of impaired brain function is rapid (acute), while other times it can develop slowly over many years. The specific symptoms, severity, and course of the disorder can vary greatly among affected individuals. The disorder often responds to therapy with corticosteroids.", "symptoms": "The most important symptom is impaired brain function (encephalopathy), namely, altered mental status. It is impairment of the cognition, attention, orientation, sleep-wake cycle and consciousness.", "causes": "The exact cause of Hashimoto encephalopathy is unknown. However, some clinical researchers believe that the disorder is most likely the result of an abnormal immune system response to an infection or other trigger. Many researchers suggest that the disorder may represent, in part, an abnormal immune reaction directed against the body’s own tissues (autoimmune disorder). In autoimmune disorders, the body’s natural defenses (e.g. antibodies, lymphocytes) against substances that are perceived as foreign (antigens) inappropriately begin to attack healthy tissues for unknown reasons. When antibodies mistakenly target healthy tissue, they may be referred to as autoantibodies.", "affected": "Hashimoto encephalopathy is a rare disease that affects women more often than men. The disorder is estimated to affect 2.1 per 100,000 individuals in the general population. It can affect children, but only approximately 60 affected children have been described in the medical literature. Rare disorders often go misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hashimoto encephalopathy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Hashimoto encephalopathy is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. By definition, Hashimoto encephalopathy must have detectable levels of antithyroid antibodies in the body. However, there is no correlation between the amount of antibody levels and the presence or severity of symptoms. Antithyroid antibodies are relatively common in the general population, so this finding must occur in individuals with the characteristic findings associated with Hashimoto encephalopathy and in whom other potential diagnoses have been ruled out.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99802", "name_zh": "半侧巨脑畸形", "Name": "Hemimegalencephaly", "disease_name": "Hemimegalencephaly", "synonyms": "macrencephaly", "disease-overview": "Hemimegalencephaly (HME) is a rare neurological condition in which one-half of the brain, or one side of the brain, is abnormally larger than the other. The structure of the brain on the affected side may be markedly abnormal or show only subtle changes. In either case, as a consequence of this size and structural differences, the enlarged brain tissue causes frequent seizures, often associated with cognitive or behavioral disabilities. Seizures in association with HME often begin in early infant life including an association with infantile spasms. Hemimegalencephaly may occur as an isolated or sporadic brain malformation or it may be associated with other neurodevelopmental syndromes. Thus, when detected, HME should prompt a search for other syndromic diagnoses.", "symptoms": "HME typically is identified in the neonatal period when the baby develops presents seizures. The seizures usually do not decline in severity or number with medical treatment and in some cases they may exceed 50 or more per day. On physical examination, a child with HME may presents with enlarged head circumference or an asymmetrical head shape.  There may be movement or motor deficits on the side opposite to the HME. When these signs are present, the neurologist may suspect the presence of HME and order magnetic resonance imaging (MRI) examination.", "causes": "The basic cause(s) of HME is not well understood. The disorder occurs because the cells of one hemisphere of the brain grow much more rapidly than do the corresponding cells of the other half of the brain (hamartomatous overgrowth of one hemisphere). It is widely believed that a single or multiple gene mutations contribute to this process. As might be expected, the cortex of the enlarged brain is malformed (dysplastic) and the white matter is abnormal. One of the common, empty spaces of the brain (lateral ventricle) in the enlarged hemisphere is enlarged in proportion to the lateral ventricle of the smaller hemisphere.", "affected": "Hemimegalencephaly is a very rare disorder for which prevalence estimates are not available.", "related-disorders": "Hydrocephalus is a condition in which abnormally widened (dilated) cerebral spaces in the brain (ventricles) inhibit the normal flow of cerebrospinal fluid (CSF). The cerebrospinal fluid accumulates in the skull and puts pressure on the brain tissue. An enlarged head in infants and increased cerebrospinal fluid pressure are frequent findings but are not necessary for the diagnosis of hydrocephalus. There are several different forms of hydrocephalus: communicating hydrocephalus, non-communicating hydrocephalus or obstructive hydrocephalus, internal hydrocephalus, normal pressure hydrocephalus, and benign hydrocephalus.", "diagnosis": "Examination by MRI is usually sufficient to confirm a suspected case of HME. Thus, an MRI examination should be performed as soon as HME is suspected. Seizures are diagnosed and defined by electroencephalography (EEG).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:569", "name_zh": "家族性或散发性偏瘫型偏头痛", "Name": "Hemiplegic Migraine", "disease_name": "Hemiplegic Migraine", "synonyms": "familial hemiplegic migraine", "disease-overview": "Hemiplegic migraine is a rare disorder in which affected individuals experience a migraine headache along with weakness on one side of the body (hemiplegia). Affected individuals are described as having a migraine with aura. Aura refers to additional neurological symptoms that occur with or sometimes before, the development of migraine headaches. Hemiplegia is an aura symptom. Additional aura symptoms usually affect vision, but also can affect speech, sensation and mental status. In some affected individuals, hemiplegic migraine occurs because of a change (variant or mutation) in a specific gene. This is called familial hemiplegic migraine. Abnormal variants in four genes, CACNA1A, ATP1A2, SCN1A and PRRT2, have all been shown to cause the familial forms. Some affected individuals are thought to develop the disorder because of a variant in an as-yet-unidentified gene. There is usually a family history of hemiplegic migraines in affected individuals. Some individuals may be the first person in their family with hemiplegic migraine; these individuals are described as having sporadic hemiplegic migraine.", "symptoms": "Affected individuals experience hemiplegic migraine attacks. These attacks can range from about one a day to fewer than five in a lifetime. There can often be long episode-free periods during life. Generally, episodes become less frequent as a person ages. Individual episodes can vary in severity and duration. Hemiplegic migraine is a chronic disorder and can be extremely painful and debilitating.", "causes": "Hemiplegic migraine can be classified as either familial or sporadic.", "affected": "The number of newly affected individuals within a year (incidence) and prevalence (the overall number of people with a disorder at a given time (prevalence) of hemiplegic migraine is unknown. Studies in a population of Denmark placed the prevalence at 1 in 10,000 individuals in the general population. The prevalence was the same for the familial and sporadic forms. Rare disorders often go misdiagnosed or undiagnosed making it difficult to determine the true frequency of disorders like hemiplegic migraine in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of hemiplegic migraine. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hemiplegic migraine is based upon identification of characteristic symptoms, a detailed patient history, thorough clinical evaluation and a variety of specialized tests. Two proposed diagnostic criteria have been published (The International Classification of Headache Disorders, 3rd edition and a population-based study of familial hemiplegic migraine suggests revised diagnostic criteria, Thomsen et al. 2002) to help physicians diagnose hemiplegic migraine.", "therapies": "The treatment of hemiplegic migraine is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, physicians who specialize in diagnosing and treating disorders of the brain and central nervous system in children (pediatric neurologists), neurologists, physicians who specialized in treating headaches or migraines, pain specialists, physicians who specialize in diagnosing and treating eye disorders (ophthalmologists), social workers and other healthcare professionals may need to plan treatment systematically and comprehensively. Psychosocial support for the entire family may be beneficial as well."}
{"OrphaCode": "ORPHA:275938", "name_zh": "胎儿母体同种异体免疫所致溶血病", "Name": "Hemolytic disease due to fetomaternal alloimmunization", "disease_name": "Hemolytic Disease of the Fetus and Newborn", "synonyms": "maternal alloimmunization", "disease-overview": "Hemolytic disease of the fetus and newborn (HDFN) can occur in an unborn baby or newborn if the mother has red cell antibodies (a diagnosis known as maternal red cell alloimmunization). During pregnancy, these antibodies can cross through the placenta and enter the unborn baby’s blood and destroy the baby’s red blood cells causing anemia (low blood count). The child is at risk for HDFN if their blood type matches the mother’s antibody. Symptoms can be mild or severe. Maternal-fetal incompatibility with ABO, Rhesus factor (Rh) and/or other red blood cell antigens, RhD, Kell, and other non-ABO alloantibodies are the primary cause of moderate to severe HDFN, whereas ABO HDFN is typically mild and occurs after birth.", "symptoms": "In the unborn baby (fetus) symptoms may include:", "causes": "A female can develop red cell alloimmunization after exposure to blood that is not her own through blood transfusion, needle drug use, or pregnancy when mother and baby’s blood may mix due to bleeding, miscarriage, delivery or other procedures. Once she develops antibodies, they remain in her bloodstream forever, though antibody levels can drop to undetectable levels at times. In order for the baby to have HDFN, the mother must have red cell alloimmunization.", "affected": "In the United States, a nationwide Rh HDFN estimate of 106 per 100,000 births in 1986 was obtained from analysis of the nationwide Birth Defects Monitoring Program.  Since then, alloimmunization rates from 740 to 1200 per 100,000 births and HDFN rates from 3 to 150 per 100,000 births have been estimated from single-center studies of Rh, ABO, or other significant red cell antibodies. Variability in estimated rates may be due to small sample size and differences in HDFN severity reported. A recent study utilized the National Hospital Discharge Survey (NHDS) from 1996 to 2010 to identify newborns with HDN and estimated similar rates.", "related-disorders": "Other disorders can cause anemia and hyperbilirubinemia in the fetus or newborn. Fetal anemia requiring intrauterine transfusion is most often necessary due to HDFN but can also be needed in cases of parvovirus B19, significant bleeding between the mother and baby (called fetal-maternal hemorrhage) or twin-to-twin transfusion syndrome.", "diagnosis": "In developed countries, screening for red cell alloimmunization is standard in the first trimester of pregnancy. After a positive antibody screen, the antibody is identified, and the level (titer) should be checked with a blood draw on the mother. If the antibody is known to cause HDFN, it is necessary to find out the baby’s antigen status to understand whether the baby is at risk of HDFN.", "therapies": "Early onset of severe disease, though uncommon, requires close monitoring with serial Doppler ultrasounds and rapid treatment with early IUTs and sometimes other medications such as intravenous immune globulin (IVIG)."}
{"OrphaCode": "ORPHA:158032", "name_zh": "噬血细胞综合征", "Name": "Hemophagocytic syndrome", "disease_name": "Hemophagocytic Lymphohistiocytosis", "synonyms": "hemophagocytic syndrome", "disease-overview": "Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition caused by an overactive, abnormal response of the immune system. The immune system is the body’s natural defense system against foreign or invading organisms or substances. The immune system is a complex network of cells, tissues, organs, and proteins that work together to keep the body healthy. In hemophagocytic lymphohistiocytosis, the immune system responds to a stimulus or ‘trigger’, often an infection, but the response is ineffective and abnormal. This ineffective, abnormal response, causes a variety of signs and symptoms, which, if not treated, can potentially become life-threatening. Some affected individuals may have a genetic predisposition to developing hemophagocytic lymphohistiocytosis. This is known as the primary or familial form. In other individuals, the disorder occurs sporadically usually when there is an underlying predisposing condition or disorder. This is known as the secondary form. The secondary forms are more common than the familial forms. Hemophagocytic lymphohistiocytosis most often affects infants from birth to 18 months, but can affect individuals of any age. Early diagnosis and prompt treatment is essential.", "symptoms": "The onset and severity of hemophagocytic lymphohistiocytosis can vary greatly from one person to another. The specific symptoms that develop can also vary greatly, although the condition often causes multiorgan involvement. Generally, affected individuals develop fevers, a rash, an abnormally large liver (hepatomegaly), and an abnormally large spleen (splenomegaly). Fevers may be prolonged and persistent, often failing to respond to antibiotics. Sometimes, the lymph nodes are also abnormally large (lymphadenopathy). Lymph nodes are part of the lymphatic system, a circulatory network of vessels, ducts, and nodes that filter and distribute certain protein-rich (lymph) and blood cells throughout the body. Lymph nodes are small structures, found in groups throughout the body, that help to filter or drain out harmful substances from the body.", "causes": "Hemophagocytic lymphohistiocytosis is broadly broken down into primary and secondary (acquired) forms. The condition results from an ineffective, abnormal response of the immune system to a stimulus or ‘trigger’. The underlying mechanisms that cause signs and symptoms to develop are complex. There is overproduction and overactivity of immune system cells called histiocytes and T cells. These are types of white blood cells, which are the primary cell of the immune system and help the body to fight off infection.", "affected": "Hemophagocytic lymphohistiocytosis most often affects infants or young children, but can affect individuals of any age. It affects boys and girls in equal numbers. In adults, it affects men slightly more often than women. The exact incidence and prevalence is unknown. Rare disorders often go misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. About 25% of the people with this disorder, have the familial form.", "related-disorders": "Symptoms of the following disorders can be similar to those of hemophagocytic lymphohistiocytosis and it may be important to distinguish these disorders from it.", "diagnosis": "A diagnosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Guidelines have been published that detail the criteria necessary for a diagnosis of hemophagocytic lymphohistiocytosis. If five of the following eight symptoms are present, then a clinical diagnosis can be made. These eight symptoms are fever; an abnormally large spleen (splenomegaly); low red cell, white cell, or platelet levels (cytopenias); abnormally high levels of a type of fat called a triglyceride in the blood (hypertriglyceridemia) or low levels of a specific blood clotting protein (hypofibrinogenemia); destruction of blood cells by macrophages (hemophagocytosis) in the bone marrow; low or absent natural killer cell activity; abnormal high levels in the blood of a protein that binds to iron (ferritinemia); and elevated soluble interleukin-2 receptor (sCD25), a specialized protein that builds up in the blood when the immune system is stimulated.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98878", "name_zh": "血友病A", "Name": "Hemophilia A", "disease_name": "Hemophilia A", "synonyms": "classical hemophilia", "disease-overview": "", "symptoms": "The severity and symptoms of hemophilia A can vary greatly from one person to another. Hemophilia A can range from mild to moderate to severe. Factor VIII levels in these categories are 5-40% of normal, 1-5%, and less than 1%, respectively. The age of onset and frequency of bleeding episodes depend upon the amount of factor VIII protein and overall clotting ability of the blood. In most individuals, regardless of severity, bleeding episodes tend to be more frequent in childhood and adolescence than in adulthood.", "causes": "Hemophilia A is caused by disruptions or changes (variants or mutations) of the F8 gene. The F8 gene contains instructions for creating (encoding) factor VIII. Factor VIII is one of the essential blood proteins and plays a role in aiding the blood to clot in response to injury. Mutations of the F8 gene result in deficient levels of functional factor VIII. The symptoms of hemophilia A occur due to this deficiency.", "affected": "Hemophilia A is the most common X-linked recessive disorder and the second most common inherited clotting factor deficiency after von Willebrand disease. Hemophilia A mostly affects males but females can also be affected. Approximately 1 in 5,000 newborn males  have hemophilia A. Approximately 60% of individuals with hemophilia A have a severe form of the disorder. All racial and ethnic groups are equally affected by hemophilia.", "related-disorders": "Symptoms of the following disorders can be similar to those of hemophilia A. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hemophilia A is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized laboratory tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98879", "name_zh": "血友病B", "Name": "Hemophilia B", "disease_name": "Hemophilia B", "synonyms": "Christmas disease", "disease-overview": "", "symptoms": "The symptoms and severity of hemophilia B vary greatly based upon the level of factor IX present. Hemophilia B can range from mild to moderate to severe. Individuals with mild hemophilia have factor IX levels between 5 and 40% of normal; those with moderate hemophilia have factor levels from 1 to 5% of normal; and individuals with severe hemophilia have factor levels less than 1% of normal. The age an individual becomes aware that they have hemophilia B, known as age of diagnosis, and the frequency of bleeding episodes depends upon the amount of factor IX present in the blood and the family history.", "causes": "Hemophilia B is caused by a change (variant or mutation) in the F9 gene. The F9 gene is located on the X chromosome and thus is inherited in an X-linked recessive pattern. In about 30% of cases of hemophilia B, the altered gene occurs spontaneously without a previous family history.", "affected": "Hemophilia B occurs in approximately 1 in 25,000 male births. It is less prevalent than hemophilia A which occurs in approximately 1 in 5,000 male births. Although many hemophilia B carrier females do not have symptoms, an estimated 10-25% will develop mild symptoms and females have also been reported with moderate and severe symptoms. All races and ethnic groups are affected equally. Individuals with severe hemophilia B are usually diagnosed around birth or within the first few years of life; those with moderate hemophilia B, five to six years of age; and individuals with mild hemophilia B may not be diagnosed until later in life and even into adulthood.", "related-disorders": "Symptoms of the following disorders may be similar to those of hemophilia B. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of hemophilia B is made with attention to the following: the patient’s personal history of bleeding, the patient’s family history of bleeding and inheritance and laboratory testing. Several different specialized tests are necessary to confirm a diagnosis of hemophilia B.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:761", "name_zh": "IgA血管炎", "Name": "Immunoglobulin A vasculitis", "disease_name": "Henoch-Schönlein Purpura", "synonyms": "Allergic Purpura", "disease-overview": "Henoch-Schönlein purpura (HSP) is a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes in the small blood vessels. The symptoms of HSP usually begin suddenly and may include headache, fever, loss of appetite, cramping, abdominal pain, painful menstruation, hives, bloody diarrhea, and joint pain. Red or purple spots typically appear on the skin (petechiae). Inflammatory changes associated with HSP can also develop in the joints, kidneys, digestive system, and, in rare cases, the brain and spinal cord (central nervous system).", "symptoms": "The symptoms of HSP usually begin suddenly. In addition to the characteristic red spotting of the skin (most often on the buttocks and backs of the legs), they may include headache, loss of appetite, and/or fever. The skin typically becomes red (diffuse erythema). Cramping abdominal pain may occur and is usually most severe during the night. Blood may be present in the stool and abnormal bleeding (hemorrhaging) from the gastrointestinal tract can cause bloody diarrhea. Joint pain (arthralgia) may develop in any joint of the body, especially the knees and ankles. Some people with HSP experience vomiting and diarrhea; others may have severe constipation and unusually dark stool (melena).", "causes": "The exact cause of HSP is not known, although research suggests that this disease may be caused by immune system dysfunction (i.e., increased IgA immune complexes). Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons.", "affected": "HSP is a rare disorder that affects more males than females. The disease may occur in all age groups, although it most commonly affects children.", "related-disorders": "Common purpura is the most prevalent type of purpura, occurring most often in women over age 50. When there has been no injury, purpura lesions occur more often than subcutaneous bleeding. However, following surgery or even minor injuries, blood vessel fragility results in excessive bleeding. The bleeding may be reduced by short-term corticosteroid therapy and/or, in postmenopausal women, the administration of estrogen.", "diagnosis": "The diagnosis of  HSP may be difficult, especially in adults. The disease is frequently confused with other forms of vascular inflammation (see Related Disorders section of this report). Routine laboratory tests are usually not definitive for the disorder. The platelet count is typically normal although white blood cell and sedimentation rates may be elevated.", "therapies": "Therapy"}
{"OrphaCode": "ORPHA:288", "name_zh": "遗传性椭圆形红细胞增多症", "Name": "Hereditary elliptocytosis", "disease_name": "Hepatic Encephalopathy", "synonyms": "HE", "disease-overview": "Hepatic encephalopathy is a brain disorder that develops in some individuals with liver disease. Hepatic encephalopathy is a complex disorder that encompasses a spectrum or continuum of disease that ranges from a subtle condition with no outward signs or symptoms to a severe form that can cause serious, life-threatening complications. Symptoms are related to progressive dysfunction of the brain and may include personality changes, intellectual impairment, impaired memory and loss of consciousness (coma). Hepatic encephalopathy can occur in individuals with acute or chronic liver (hepatic) disease or in individuals whose liver is bypassed by a portosystemic shunt (with no liver disease present). A portosystemic shunt is an abnormal passageway that allows blood from the gastrointestinal tract to bypass the liver. They can be present at birth (congenital) or acquired during life. Hepatic encephalopathy is caused when toxins that are normally cleared from the body by the liver accumulate in the blood, eventually traveling to the brain. Many of the symptoms of hepatic encephalopathy are reversible when promptly detected and treated.", "symptoms": "Hepatic encephalopathy encompasses a spectrum or continuum of disease and, consequently, the symptoms and severity of the disorder can vary widely from one person to another. The severity of hepatic encephalopathy can range from mild, barely discernable symptoms to serious, life-threatening complications. Hepatic encephalopathy may develop slowly over time in individuals with chronic liver disease or may occur episodically, worsening and then improving only to recur. An episode of hepatic encephalopathy is often triggered by certain conditions such as infection, gastrointestinal bleeding, constipation, certain drugs, surgery or an alcohol binge. Episodes of hepatic encephalopathy can develop rapidly and without warning, often necessitating hospitalization.", "causes": "Hepatic encephalopathy occurs in individuals with liver disease when toxins that are normally cleared in the liver accumulate in the blood eventually traveling to and damaging the brain. The exact underlying mechanisms by which hepatic encephalopathy develops in individuals with liver disease are not fully understood.", "affected": "The exact incidence of hepatic encephalopathy in the general population is unknown. It affects males and females in equal numbers and can occur in individuals of any age who have acute or chronic liver disease. Approximately 24-53 percent of individuals whose liver is bypassed by a portosystemic shunt (with no liver disease present) develop hepatic encephalopathy.", "related-disorders": "Symptoms of the following disorders can be similar to those of hepatic encephalopathy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hepatic encephalopathy may be suspected in some individuals with liver disease based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests that are used to rule out other conditions. Such tests may include a complete blood count, liver function tests, tests that evaluate serum ammonia levels, and an electroencephalogram, which is a test that measures the electrical activity of the brain, may be useful in detecting encephalopathy. Specialized imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) scans may be used to rule out other conditions affecting the brain such as tumors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:402823", "name_zh": "丁型肝炎", "Name": "Hepatitis delta", "disease_name": "Hepatitis D", "synonyms": "HDV", "disease-overview": "", "symptoms": "As previously noted, HDV can present as a co-infection or as a superinfection. Co-infection occurs when a person is simultaneously infected with both HBV and HDV, which is generally less common than superinfection. Superinfection occurs when a person who is already infected with HBV acquires HDV infection.  Age of onset can vary from acquiring infection at birth via mother to child transmission to acquiring as an adult through different routes of infection detailed below.", "causes": "Hepatitis D is caused by the HDV, which is a unique virus with defective replication processes. Because it cannot replicate like other viruses, it requires co-infection with chronic HBV in order to survive and replicate. HDV is a single-stranded RNA virus and only codes for 2 proteins (HDV large and small antigen). As previously noted, it can present as simultaneous HBV-HDV co-infection or more commonly as a HDV superinfection in patients with underlying chronic HBV. HDV has 8 distinct genetic profiles (genotypes), each with 2-4 subtypes. Genotype 1 is the most prevalent worldwide and is seen predominantly in Europe and North America. Genotype 2 is seen more commonly in Asia and the Middle East. Genotype 3 is mostly seen in the Amazon Basin. Genotype 4 is seen in Taiwan, China, and Japan. Genotypes 5-8 are mostly seen in Africa, although some studies have reported presence of genotypes 5-7 in European regions with newer immigration patterns.", "affected": "Existing studies vary in their estimates of global prevalence of HDV, estimating from 12 to 74 million, but many believe that the true prevalence is between 15 and 20 million. The variation in prevalence estimates is due to lack of high-quality data, which is further compounded by suboptimal awareness of testing, contributing to significant under-diagnosis of this disease. Existing studies estimate that prevalence of HDV in the US ranges from 100,000 to 150,000 individuals affected. While HDV is found globally, certain regions and countries have observed higher prevalence. For example, some of the highest reported prevalence has been observed in Mongolia, Somalia, the Punjab region of India and the Amazon Basin. HDV is mainly transmitted through activities that involve percutaneous contact (for example, a puncture through the skin) and to a lesser extent through mucosal contact (through the digestive, genital, and urinary tracts) with infectious blood or bodily fluids. Examples of potential routes of infection include: sexual contact with an infected individual; injection drug use that involves sharing needles, syringes or drug preparation equipment; contact with blood or open sores with blood from an infected person; needle sticks or exposures to sharp, contaminated instruments; sharing items such as razors or toothbrushes with an infected person; and mother to child via birth from an infected mother.", "related-disorders": "HDV only occurs in the setting of HBV infection in humans. However, there are other disorders that may present with signs and symptoms similar to HDV. As previously mentioned, the clinical presentation of HDV can be fairly non-specific and can be seen in patients with other liver diseases. For example, other viral hepatitis infections may present similarly. There are 5 main types of viral hepatitis: A, B, C, D, E. Hepatitis A is usually transmitted via contaminated food and can present similarly to an acute HDV infection. HBV reactivation or flare can also occur in patients with underlying chronic HBV and can mimic the signs and symptoms seen in acute HDV infection. Hepatitis C can be acquired through blood (e.g., blood transfusion, shared needles, etc.) as well as via sexual contact. While it is more common for hepatitis C to progress without symptoms initially then become a chronic infection, acute hepatitis C infection can occur and present very similarly to acute HDV infection. Hepatitis E infection is commonly acquired through contaminated food and water especially among travelers to regions with high prevalence of viral hepatitis. The clinical presentation of hepatitis E can also be very similar to HDV infection.", "diagnosis": "The detection and diagnosis of HDV is based on laboratory testing of blood samples. Recommendations from the American Association for the Study of Liver Diseases (AASLD) suggest testing for HDV with a total antibody test in patients with chronic HBV who are at high risk. One element of high risk is location, including individuals born in regions with high prevalence of viral hepatitis such as West Africa, the horn of Africa, Central and Northern Asia, Mongolia, Pakistan, Japan, Taiwan, Kiribati, Nauru, the Middle East region, Eastern Mediterranean regions, Turkey, the Amazon Basin and Greenland. Other high-risk individuals are persons who inject drugs, men who have sex with men, persons with HIV or hepatitis C co-infection, individuals at risk for sexually transmitted diseases and patients with elevated liver enzymes despite low HBV DNA levels. The Hepatitis B Foundation recommends testing for HDV in all HBsAg+ patients since risk based testing has been a failure and there are no peer reviewed references that support risk based testing will aid in viral hepatitis elimination.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:88673", "name_zh": "肝细胞癌", "Name": "Hepatocellular carcinoma", "disease_name": "Hepatocellular Carcinoma", "synonyms": "HCC", "disease-overview": "", "symptoms": "Most people do not have any noticeable symptoms associated with hepatocellular carcinoma. They may have symptoms related liver cirrhosis that may become more difficult to control.", "causes": "The exact reasons why hepatocellular carcinoma develops is not fully understood. It is a multifactorial disorder, which means that there are multiple factors that must occur before the disorder develops.", "affected": "Hepatocellular carcinoma is one of the most prevalent cancers in the world, but relatively rare in the United States. There are approximately six new cases of HCC per every 100,000 people in the general population of the U.S. The number of people who develop HCC in the U.S. has risen in the last four decades. In certain geographic regions in the world, HCC is much more common most likely due to increased frequency of hepatitis B infection or exposure to aflatoxins. One estimate places HCC as the fifth most common cancer that leads to death in the world.", "related-disorders": "Symptoms of the following disorders can be similar to those of hepatocellular carcinoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Because hepatocellular carcinoma does not cause symptoms early in the disease, getting a prompt diagnosis is difficult. Since there are more effective treatment options the earlier the disease is identified, early diagnosis is very important.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95159", "name_zh": "肝性红细胞生成性卟啉病", "Name": "Hepatoerythropoietic porphyria", "disease_name": "Hepatoerythropoietic Porphyria", "synonyms": "autosomal recessive PCT", "disease-overview": "", "symptoms": "The symptoms and severity of HEP can vary from one person to another. Onset is usually within the first two years of life, but mild cases that go undiagnosed until adulthood have been reported. Although HEP is associated with specific, characteristic symptoms, several factors, including the small number of identified cases, make it difficult to establish the full range of associated symptoms of the disorder.", "causes": "HEP is caused by mutations of both alleles of the UROD gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "HEP is an extremely rare disorder that affects males and females in equal numbers. Approximately 40 cases have been reported in the medical literature. The exact incidence or prevalence of HEP in the general population is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of HEP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. HEP may be considered in infants and children with chronic, blistering photosensitivity.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79430", "name_zh": "赫曼斯基-普德拉克综合征", "Name": "Hermansky-Pudlak syndrome", "disease_name": "Hepatopulmonary Syndrome", "synonyms": "HPS", "disease-overview": "", "symptoms": "The vast majority of HPS patients (82%) initially present with features of their liver disease, while a minority (18%) present with lung (pulmonary) complaints first. Overall, the most common complaint is an insidiously progressive shortness of breath (dyspnea) at rest or upon exertion, reported in 95% of patients and usually developing after years of liver disease2.  However, given the high prevalence and often multifactorial nature of dyspnea in cirrhotic patients, this complaint is easily overlooked, and HPS patients reportedly have respiratory symptoms for a mean of 4.8 years before diagnosis 7.  In a majority of patients,  dyspnea and hypoxemia progress over time 8.  Furthermore, this progressive decline often occurs despite stable liver function 9.", "causes": "The cause of HPS remains unclear and it is unknown why some patients with liver disease develop IPVDs while others do not. Hypoxemia in HPS is primarily due to limitations to the movement of oxygen from the lungs into the bloodstream (diffusion limitation), and mismatching between air moving through the lungs and blood moving through the lungs (ventilation-perfusion mismatch), caused by the presence of IPVDs1.", "affected": "Among cirrhotic subjects awaiting orthotopic liver transplantation (replacing the recipient liver with the donor liver), approximately 70% complain of dyspnea, 34-47% have intrapulmonary vascular dilatations (IPVDs), and 5-32% have HPS 6,18-23.", "related-disorders": "Portopulmonary hypertension is another vascular complication of liver disease, which is often confused with HPS. However, hepatopulmonary syndrome and portopulmonary hypertension are not the same disease. Although both are abnormalities of the pulmonary vasculature resulting from liver disease, HPS is characterized by vasodilatation and hypoxemia whereas portopulmonary hypertension is characterized by obstruction or narrowing (vasoconstriction) of blood vessels with resulting pulmonary arterial hypertension6.", "diagnosis": "Because dyspnea is common in liver disease, HPS is often missed or diagnosed late. In the absence of an alternative explanation, a saturation of < 96% is suggestive of HPS.24  Worsening dyspnea in the upright compared to supine position (platypnea) and orthodeoxia (PaO2 drop by more than 5% or 4 mmHg in the upright position) occur in only 25% of patients6 but are highly specific for HPS (thought to be from gravitational re-distribution of blood flow to basilar parts of the lungs, where vascular dilatations are more severe), as are clubbing or cyanosis (in any patient with liver disease).21 Accordingly, clinicians should think of HPS in patients with liver disease and an unexplained oxygen saturation of < 96%, or any of: platypnea, orthodeoxia, clubbing, or cyanosis. After pulmonary evaluation, any patient with a PaO2 < 80 mmHg or alveolar-arterial oxygen gradient (AaDO2) ≥ 15 mmHg that cannot be fully explained by other diagnoses should be referred for a diagnostic workup for possible HPS25.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2088", "name_zh": "Fanconi-Bickel综合征", "Name": "Hepatorenal Syndrome", "disease_name": "Hepatorenal Syndrome", "synonyms": "hepato-renal syndrome", "disease-overview": "Hepatorenal syndrome (HRS) is a form of impaired kidney function that occurs in individuals with advanced liver disease. Individuals with hepatorenal syndrome do not have any identifiable cause of kidney dysfunction and the kidneys themselves are not structural damaged. Therefore, hepatorenal syndrome may be referred as a functional form of kidney impairment. In fact, if the kidney of an individual with hepatorenal syndrome were to be transplanted into an otherwise healthy individual, it would function normally. Hepatorenal syndrome is classified into to two distinct types. Type I is a rapidly progressive condition that leads to renal failure; type II does not have a rapid course and progresses slowly over weeks to months.", "symptoms": "Individuals with hepatorenal syndrome will have a variety of nonspecific symptoms including fatigue, abdominal pain, and a general feeling of ill health (malaise). Affected individuals also have symptoms related to advanced liver disease including the accumulation of fluid in the abdomen (ascites), yellowing of the skin and the whites of the eyes (jaundice), an enlarged spleen (splenomegaly) and an enlarged, extremely tender liver (hepatomegaly).", "causes": "The exact cause of hepatorenal syndrome is unknown. It occurs in individuals with advanced liver disease, especially individuals who have scarring and dysfunction of the liver (cirrhosis). The characteristic finding in individuals with hepatorenal syndrome is narrowing (constriction) of the blood vessels that feed the kidneys (renal vasoconstriction), which results in decreased blood flow to the kidneys, eventually impairing kidney function.", "affected": "Hepatorenal syndrome affects males and females in equal numbers. The exact incidence of hepatorenal syndrome is unknown. It is estimated to occur in approximately 8-10 percent of individuals with the accumulation of fluid in the abdomen (ascites) and cirrhosis. Although it is most common in individuals with advanced cirrhosis and ascites, hepatorenal syndrome has also occurs in individuals with other forms of liver disease including fulminant hepatic failure.", "related-disorders": "Symptoms of the following disorders can be similar to those of hepatorenal syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hepatorenal syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. The International Ascites Club, an organization dedicated to encouraging scientific research into advanced cirrhosis, has established criteria for a diagnosis of hepatorenal syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91378", "name_zh": "遗传性血管性水肿", "Name": "Hereditary angioedema", "disease_name": "Hereditary Angioedema", "synonyms": "angioneurotic edema, hereditary", "disease-overview": "Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Usually, this swelling is not accompanied by itching, as it might be with an allergic reaction. Swelling of the gastrointestinal tract leads to cramping. Swelling of the airway may lead to obstruction, a potentially very serious complication. These symptoms develop as the result of deficiency or improper functioning of certain proteins that help to maintain the normal flow of fluids through very small blood vessels (capillaries). In some cases, fluid may accumulate in other internal organs. The severity of the disease varies greatly among affected individuals.", "symptoms": "The characteristic symptom of hereditary angioedema is recurrent episodes of swelling of affected areas due to the accumulation of excessive body fluid (edema). The areas of the body most commonly affected include the hands, feet, eyelids, lips, and/or genitals. Edema may also occur in the mucous membranes that line the respiratory and digestive tracts, which is more common in people with hereditary angioedema than in those who have other forms of angioedema (i.e., acquired or traumatic). People with this disorder typically have areas of swelling that are hard and painful, not red and itchy (pruritic). A skin rash (urticaria) rarely is present.", "causes": "Hereditary angioedema is inherited as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Hereditary angioedema is a rare disorder that affects males and females in equal numbers. Symptoms typically begin in early childhood. An estimated one in 50,000 to 150,000 individuals is affected by this disorder worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary angioedema. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acute nonhereditary angioedema affects the skin and mucous membranes. It commonly clears up on its own after 1 or 2 days. Any number of allergens may be responsible including drugs, insect stings, bites, and certain foods (e.g., eggs, shellfish, nuts, and fruits). Some people can have very severe allergic reactions (anaphylaxis) that may result in respiratory angioedema. Acquired angioedema can also occur because of immune disorders (e.g., B-cell lymphoproliferative disease), chronic lymphocytic leukemia, multiple myeloma, lupus (SLE), chronic sinusitis, dental infection, or certain blood disorders (essential cryoglobulinemias). Other acquired edemas may occur because of surgery (i.e., mastectomy), malignancy, and/or autoimmune diseases. Acquired angioedema may occur at any age. (For more information on these disorders, choose Anaphylaxis, Leukemia, Myeloma, Lupus, and Cryoglobulinemia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:145", "name_zh": "遗传性乳腺癌-卵巢癌综合征", "Name": "Hereditary Breast and Ovarian Cancer Syndrome", "disease_name": "Hereditary Breast and Ovarian Cancer Syndrome", "synonyms": "HBOC", "disease-overview": "Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited cancer-predisposition syndrome. Affected individuals have a significantly greater risk of developing certain cancers, particularly breast cancer, in both men and women, and ovarian cancer in women. Affected individuals tend to develop cancer earlier in life as well, usually before the age of 50. Additionally, to a lesser degree, there is also an increased risk of developing other types of cancer including prostrate cancer, melanoma, and pancreatic cancer. HBOC syndrome is most commonly associated with variations (mutations) in the either the BRCA1 gene or the BRCA2 gene. In HBOC syndrome, there is usually a family history of cancer and the variant gene is inherited. The underlying causes of cancer are not completely understood and while inheriting a variation in the BRCA1 or BRCA2 gene greatly increases a person’s risk of developing certain cancers, it does not mean that the people will definitely develop cancer. Some people with variations in these genes never develop cancer. How these gene variants affect individuals and families will be different. Most likely, there are additional genetic (e.g. variations in other genes) or environmental factors (e.g. smoking) that influence whether and how cancer develops.", "symptoms": "HBOC syndrome is a cancer predisposition syndrome in which individuals are at a greater risk of developing certain cancers, particularly breast or ovarian cancer. Signs and symptoms are associated with the development of cancer, and depend upon the type and location of cancer. HBOC syndrome can cause cancer in multiple family members over several generations in one family. It can also be associated with more than one cancer in the same person.", "causes": "HBOC syndrome is caused by a variation in a single major cancer-causing gene, most often the breast cancer susceptibility gene 1 (BRCA1) or the breast cancer susceptibility gene 2 (BRCA2). Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "HBOC syndrome can affect both men and women and occurs in people from all ethnic and racial backgrounds. In fact, HBOC syndrome is the most common cause of hereditary breast and ovarian cancer in all ethnic and racial backgrounds. The prevalence, which is the number of people with a disorder at a given time, is not known, but estimated to be somewhere between 1 in 200 to 1 in 800 people in the general population. In certain populations, the prevalence is higher. In individuals of Ashkenazi Jewish descent, HBOC syndrome affects about 1 in 40 people. Sometimes, this is due to a founder effect. A founder effect is when a small, isolated population of people expands over several generations leading to a high prevalence of a genetic trait.", "related-disorders": "Symptoms of the following disorders can be similar to those of HBOC syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Several different groups have put out guidelines for screening and diagnostic criteria for HBOC. These guidelines help to identify individuals who would most benefit from screening for variations in the BRCA1 or BRCA2 genes. One of the most commonly referenced guidelines was created by the National Comprehensive Cancer Network (NCCN). Information on these guidelines can be found at: https://www.nccn.org/professionals/physician_gls/default.aspx", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79273", "name_zh": "遗传性粪卟啉症", "Name": "Hereditary Coproporphyria", "disease_name": "Hereditary Coproporphyria", "synonyms": "HCP", "disease-overview": "", "symptoms": "The episodes or attacks that characterize HCP usually develop over the course of several hours or a few days. Affected individuals usually recover from an attack within days. However, if an acute attack is not diagnosed and treated promptly recovery can take much longer, even weeks or months. Most affected individuals do not exhibit any symptoms in between episodes. Onset of attacks usually occurs in the 20s or 30s, but may occur at or just after puberty. Onset before puberty is extremely rare. Attacks are more common in women than men.", "causes": "The CPOX gene mutation that predisposes individuals to developing HCP is inherited as an autosomal dominant trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.", "affected": "HCP is a rare disorder that can potentially affect males and females in equal numbers, although symptoms are more prevalent in females. The exact incidence and prevalence of HCP is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of HCP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HCP is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. The observation of reddish brown urine that is free of blood is indicative, but not conclusive, of an acute porphyria. The intolerance of medications such as oral contraceptives is also suggestive of an acute porphyria.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:774", "name_zh": "遗传性出血性毛细血管扩张症", "Name": "Hereditary hemorrhagic telangiectasia", "disease_name": "Hereditary Hemorrhagic Telangiectasia", "synonyms": "HHT", "disease-overview": "", "symptoms": "The symptoms associated with HHT vary from person to person. Differences in disease expression (phenotype) partially reflect the specific gene that is mutated in HHT.  Phenotypic penetrance is age dependent with approximately 90% showing signs or symptoms by age 40-45 years. Some individuals may experience symptoms during infancy or early childhood; others may show few signs or symptoms until the thirties, forties or later in life.", "causes": "HHT is caused by changes (mutations) in five different genes. It is likely that more genes are yet to be discovered.", "affected": "HHT affects males and females in equal numbers. Symptoms can occur at any age. The disorder is estimated to occur in approximately 1 per 5,000 people. However, because some affected individuals develop few obvious symptoms and findings, the disorder often remains unrecognized. HHT is known to be underdiagnosed. This makes it difficult to determine the true frequency of HHT in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary hemorrhagic telangiectasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Von Willebrand disease (VWD) is a common inherited bleeding disorder in the general population affecting males and females equally. There are three main types of VWD each with differing degrees of severity and inheritance patterns, though AVM are not seen as part of VWD. Uncommonly, individuals with HHT may also have Von Willebrand disease due to random chance. (For more information on this disorder, choose von Willebrand as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2801", "name_zh": "青少年paget病", "Name": "Juvenile Paget disease", "disease_name": "Hereditary Hyperphosphatasia", "synonyms": "chronic congenital idiopathic hyperphosphatasemia", "disease-overview": "Hereditary hyperphosphatasia is a rare genetic bone disorder (osteopathy) that usually becomes apparent during infancy or early childhood. Affected individuals develop progressive skeletal malformations especially in the long bones of the arms and legs. Skeletal malformations in the legs may cause problems walking and may eventually result in short stature. Additional symptoms include pain, fractures of affected bones and muscle weakness. Because the biochemical and radiographic findings of hereditary hyperphosphatasia are similar to those of Paget’s disease (a focal skeletal disorder of adults characterized by abnormal bone turnover), the disorder is sometimes referred to as juvenile Paget’s disease. However, despite these similarities, the two disorders are distinct. Hereditary hyperphosphatasia is inherited in an autosomal recessive pattern.", "symptoms": "The severity of symptoms associated with hereditary hyperphosphatasia varies from patient to patient. Symptoms usually become apparent during infancy or early childhood usually between 2 and 3 years of age. Most individuals develop widening and bowing of the long bones of the legs eventually resulting in problems walking and short stature. Thickening of the upper domelike portion of the skull (calvaria) is another common finding.", "causes": "About two-thirds of cases of hereditary hyperphosphatasia are caused by changes (mutations or pathogenic variants) of the TNFRSF11B gene", "affected": "Hereditary hyperphosphatasia affects males and females in equal numbers. Like all recessive disorders it is more common in countries where within-family marriage is practiced. More than 50 cases have been described since the disorder was first reported in the medical literature in 1956.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary hyperphosphatasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hereditary hyperphosphatasia is made based upon a thorough clinical evaluation, identification of characteristic symptoms and a variety of x-rays tests that reveal distinct radiographic findings. Affected individuals also have elevated levels of serum alkaline phosphatase and other biochemical markers of bone turnover, detectable through blood and urine tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:523", "name_zh": "遗传性肌瘤病及肾细胞癌综合征", "Name": "Hereditary leiomyomatosis and renal cell cancer", "disease_name": "Hereditary Leiomyomatosis and Renal Cell Carcinoma", "synonyms": "HLRCC", "disease-overview": "", "symptoms": "The symptoms and progression of HLRCC can vary widely from one person to another, even among members of the same family. Some individuals who inherit a gene variant for HLRCC will not develop any symptoms. The susceptibility to developing symptoms varies among family members as well. For example, if a parent develops kidney cancer, it does not necessarily mean that an affected child will.", "causes": "HLRCC is caused by variant in the FH gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "HLRCC affects males and females in equal numbers. The disorder may be recognized more readily in females because of the development of uterine fibroid and associated symptoms. The exact incidence and prevalence of HLRCC in the general population is not well defined but it is generally considered to be underdiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of HLRCC. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HLRCC is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Various clinical criteria have been suggested for diagnosing HLRCC including multiple cutaneous leiomyomas with at least one histologically confirmed leiomyoma or", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:321", "name_zh": "多发性骨软骨瘤", "Name": "Hereditary Multiple Osteochondromas", "disease_name": "Hereditary Multiple Osteochondromas", "synonyms": "diaphyseal aclasis", "disease-overview": "", "symptoms": "Hereditary multiple osteochondromas is a rare disorder that affects bone growth. Bony tumors (exostoses or osteochondromas), covered with cartilage, typically appear in the growth zones (metaphyses) of the long bones adjacent to the areas where tendon and muscles attach to the bone. These growths vary in size and number among affected individuals, even within the same family. Some individuals will present with a few large lumps while others will show several small growths. The median age of diagnosis is three years and almost all affected individuals are diagnosed by 12 years of age.", "causes": "Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation in the affected individual. Approximately 10% of cases of HMO are thought to be the result of new mutations. At present two genes, EXT1 and EXT2, are known to show mutations in HMO patients and it is thought that these genes function as tumor suppressors. For some affected individuals no mutation in either gene is detected.  In almost all these cases, the mutation negative patients do not have a familial history for exostoses. Most likely, they have an EXT1 or EXT2 mutation in only part of their body cells and the mutation is absent or undetectable in blood cells, which are usually used for DNA analysis.  Data indicates that individuals with EXT1 mutations may have more severe effects than those with EXT2 mutations. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "The prevalence of HMO has been estimated to be about 1 of 50,000 live births. A high prevalence of this disorder has been reported in some isolated communities. Hereditary multiple osteochondromas is a disorder that affects males and females in equal numbers but in general males tend to be more severely affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary multiple exostoses. Comparisons may be useful for a differential diagnosis.", "diagnosis": "", "therapies": "The diagnosis of HMO is based on clinical features, X-ray findings and family history. Molecular genetic testing of the EXT1 and EXT2 genes is available to confirm the diagnosis."}
{"OrphaCode": "ORPHA:2901", "name_zh": "神经痛性肌萎缩", "Name": "Hereditary Neuralgic Amyotrophy", "disease_name": "Hereditary Neuralgic Amyotrophy", "synonyms": "hereditary brachial plexus neuropathy", "disease-overview": "", "symptoms": "The hallmark finding is the abrupt onset of pain in one or both of the shoulders and/or arms. The right side of the body is affected more often than the left, but both shoulders are affected in approximately one-third of patients. When both shoulders are affected, symptoms are usually worse on one side.", "causes": "Some cases of hereditary neuralgic amyotrophy are caused by mutations or duplications in the SEPT9 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Although SEPT9 mutations have been shown to cause HNA, these mutations have only been found in approximately 55% of affected individuals in the North Americas, and in only < 5% of the families from Europe. Therefore, it is likely that additional, as-yet-unidentified genes may also cause or contribute to HNA (genetic heterogeneity).", "affected": "HNA is a rare disorder that affects males a little more often than females. The exact incidence or prevalence is unknown, but can be extrapolated from the incidence of sporadic, non-familial NA which is about 1 in 1000 per year and the fact that in a large group of 1300+ NA patients approximately 1 in 10 people had a family history for the disorder. This combined suggests that HNA occurs in about 1 in 10.000 people in the population.", "related-disorders": "Symptoms of the following disorders can be similar to those of HNA. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HNA is based upon identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. A variety of specialized tests can help rule out other diagnoses.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:30", "name_zh": "遗传性乳清酸尿症", "Name": "Hereditary orotic aciduria", "disease_name": "Hereditary Orotic Aciduria", "synonyms": "hereditary orotic aciduria", "disease-overview": "Hereditary orotic aciduria is an extremely rare genetic disorder. When untreated, affected infants can develop a blood (hematologic) disorder called megaloblastic anemia as well as failure to thrive, susceptibility to infection, and orotic acid crystals in the urine (crystalluria) resulting from excretion of orotic acid in the urine. Impaired neurological development has been observed, but invariably, especially since a treatment has become available.", "symptoms": "Some affected infants develop megaloblastic anemia, a condition in which the bone marrow produces unusually large, structurally-abnormal, immature red blood cells (megaloblasts). Megaloblastic anemia usually becomes apparent within the first few months of life.", "causes": "Hereditary orotic aciduria is caused by variations in the uridine monophosphate synthetase (UMPS) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Hereditary orotic aciduria is an extremely rare disorder that affects both men and women. Only about 20 individuals with this disorder have been reported in the medical literature. The birth prevalence, which is the number of babies born with a disorder compared to the total number of live births, is estimated to be less than 1 in 1,000,000 live births. Because rare diseases often go misdiagnosed or undiagnosed, determining their true frequency in the general population is extremely difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of hereditary orotic aciduria. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hereditary orotic aciduria is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and examination of the urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36386", "name_zh": "遗传性感觉和自主神经病变1型", "Name": "Hereditary sensory and autonomic neuropathy type 1", "disease_name": "Hereditary Sensory and Autonomic Neuropathy Type 1E", "synonyms": "hereditary sensory autonomic neuropathy with dementia and hearing loss", "disease-overview": "Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a rare genetic disorder. It is considered an adult-onset disorder with symptoms usually starting to occur in the 20-30’s. Although HSAN1E is considered to be a subtype of HSAN, a group of genetic disorders most-ly affecting the sensory and autonomic neurons of the peripheral nervous system, the central nervous system is also severely affected in HSAN1E patients, especially in the later stage of the disease. HSAN1E patients usually have three main symptoms, hearing loss, sensory neu-ropathy, and cognitive decline (dementia), and many have other various symptoms such as sleep disorders and epilepsy. The symptoms are progressive, worsening with age. At this time, there are no available treatments other than management for each specific symptom, (i.e., hearing aids for the hearing loss) and there is currently no cure for HSAN1E. Based on a re-cent study, the average life span of HSAN1E patients is approximately 50 years. HSAN1E is an autosomal dominant genetic disorder caused by a mutation in the DNMT1 gene.", "symptoms": "The signs and symptoms of HSAN1E and the age of onset are variable, even within members of the same family. HSAN1E typically runs a 15 to 30 year progressive course.", "causes": "HSAN1E is caused by a mutation in the DNMT1 gene. Genes provide instructions for creating proteins that play critical roles to allow the body to function normally. When a deleterious mu-tation occurs within a gene, the protein produced will not function normally, and this can af-fect a specific organ or multiple organs of the body. The disease mechanism of the HSAN1E mutations is still being investigated.", "affected": "HSAN1E affects both genders equally. Due to the complexity of disease and relatively lack of awareness of this disease, HSAN1E is often misdiagnosed or undiagnosed, making it difficult to assess its prevalence and incidence in the population.", "related-disorders": "DNMT1 gene mutations have also found to cause autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN). ADCA-DN patients share the same triad of core symp-toms, hearing loss, sensory neuropathy and cognitive decline, and also have adult onset. Progressive cerebellar ataxia and narcolepsy are other common features.", "diagnosis": "A diagnosis of HSAN1E may be suspected based on the identification of the three main symptoms, a detailed patient history, and a family history. DNA testing for mutations in the DNMT1 gene is necessary to confirm the diagnosis of HSAN1E.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:970", "name_zh": "遗传性感觉和自主神经病2型", "Name": "Hereditary sensory and autonomic neuropathy type 2", "disease_name": "Hereditary Sensory and Autonomic Neuropathy Type II", "synonyms": "acroosteolysis, Giaccai Type", "disease-overview": "", "symptoms": "The symptoms of HSNs are highly variable, even among members of the same family. HSNs of various types may attack a single nerve (mononeuropathy) or many nerves simultaneously (polyneuropathy). The resulting symptoms may involve sensory, motor, reflex or blood vessel (vasomotor) function.", "causes": "HSAN2 is caused by a change (variant or mutation) in one of four genes. HSAN2A is caused by variants in the WNK1 gene, HSAN2B is caused by variants in the FAM134B gene, lately renamed to RETREG1. HSAN2C is caused by variants in the KIF1A gene, HSAN2D is caused by variants in the SCN9A gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant of a gene occurs, the protein product may be altered, faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "HSAN2 affects males and females in equal numbers. The exact incidence and prevalence are unknown. HSAN2 may go misdiagnosed or undiagnosed, making it difficult to determine the disorder’s true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of HSAN2. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HSAN2 is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Early onset of sensory deficits and a family history consistent with autosomal recessive inheritance are indicative of HSAN2.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:642", "name_zh": "遗传性感觉和自主神经病4型", "Name": "Hereditary sensory and autonomic neuropathy type 4", "disease_name": "Hereditary Sensory and Autonomic Neuropathy Type IV", "synonyms": "congenital insensitivity to pain with anhidrosis (CIPA)", "disease-overview": "", "symptoms": "Infants cannot or have a markedly decreased ability to sweat (anhidrosis). Sweating is the body’s way of cooling itself and maintaining proper body temperature. The inability to sweat can cause recurrent episodes of fever including extremely high fevers that result in a significant elevation of body temperature (hyperpyrexia). When someone has a significantly increased body temperature it is known as hyperthermia and this can be the initial sign of the disorder. The inability to sweat can affect the entire body, but the trunk and arms are mostly affected. Seizures are sometimes associated with fever episodes. The skin may become abnormally thickened and callused with an exaggeration of normal skin lines (lichenification). There may be areas of hair loss of the scalp (hypotrichosis) and malformation of the fingernails and toenails.", "causes": "HSAN IV is caused by mutations in the neurotrophic tyrosine kinase receptor type I (NTRK1) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "HSAN IV affects males and females in equal numbers. Several hundred cases have been reported in the medical literature. The exact incidence and prevalence is unknown. Many patients have been reported in Japan and the frequency of the disorder is higher in the Japanese and Israeli-Bedouin populations due to a founder effect. A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a particular genetic trait. Regions with a high rate of consanguinity also show a higher prevalence. Onset of the disorder is at birth.", "related-disorders": "Symptoms of the following disorders can be similar to those of HSAN IV. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests, mainly genetic testing. Characterized symptoms proposed as necessary for a diagnosis are insensitivity to pain, anhidrosis and intellectual disability. However, the severity of these symptoms is highly variable.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36386", "name_zh": "遗传性感觉和自主神经病变1型", "Name": "Hereditary sensory and autonomic neuropathy type 1", "disease_name": "Hereditary Sensory Neuropathy Type I", "synonyms": "hereditary sensory and autonomic neuropathy (HSAN) type I", "disease-overview": "", "symptoms": "The symptoms of the HSNs are highly variable, even among members of the same family. HSNs of various types usually involve many nerves simultaneously (polyneuropathy). The resulting symptoms may involve sensory, motor, reflex or blood vessel (vasomotor) function.", "causes": "HSN1A is caused by a mutation in the SPTLC1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "HSN1 affects males and females in equal numbers. The exact incidence and prevalence is unknown. The prevalence is estimated to be approximately 2 in 1,000,000 people in the general population. HSN1 frequently goes undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of HSN1. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of HSN1 is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Characteristic symptoms along with a family history consistent with autosomal dominant inheritance are suggestive of HSN1.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:685", "name_zh": "遗传性痉挛性截瘫", "Name": "Hereditary spastic paraplegia", "disease_name": "Hereditary Spastic Paraplegia", "synonyms": "familial spastic paraplegia", "disease-overview": "Overview", "symptoms": "Symptoms describe an individual’s experience of a medical disorder. Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI). The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree.", "causes": "As with all inherited disorders, the HSPs are due to gene mutations.  Each genetic type of HSP is due to a mutation in a specific HSP gene.  For example, mutations in SPG3A/atlastin, SPG4/spastin, and SPG7/paraplegin genes cause SPG3A, SPG4, and SPG7 HSP, respectively.", "affected": "HSP affects males and females of all ethnic groups from around the world.", "related-disorders": "The primary symptom of HSP, walking disturbance due to leg weakness and spasticity also occurs in many other conditions, including non-inherited (non-genetic) conditions, and as a feature of other inherited neurologic conditions. Some of these disorders have specific treatments (e.g. B12 deficiency, 5-methyltetrahydrofolate reductase deficiency, DOPA-responsive dystonia, cervical spondylosis, multiple sclerosis, HIV, and copper deficiency); and others, though not treatable, have prognoses that differ significantly from HSP (e.g. amyotrophic lateral sclerosis and primary lateral sclerosis).", "diagnosis": "HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia usually accompanied by some degree of spasticity and sometimes a specific pattern of muscle weakness); and 3) by the exclusion of alternate disorders (by history, examination, neuroimaging, and laboratory studies as needed).", "therapies": "Treatment: management of symptoms"}
{"OrphaCode": "ORPHA:822", "name_zh": "遗传性球形红细胞增多症", "Name": "Hereditary spherocytosis", "disease_name": "Hereditary Spherocytosis", "synonyms": "acholuric jaundice", "disease-overview": "", "symptoms": "HS is divided into mild, moderate, and severe forms of the disease. Classification is based on the amounts of hemoglobin, reticulocytes, and bilirubin and the amount of spectrin in red blood cells. Hemoglobin transports oxygen in the blood. Reticulocytes are immature red blood cells. Bilirubin is formed in the liver when hemoglobin is broken down. Spectrin is a protein that helps keep the shape of a cell. Decreased hemoglobin and spectrin and increased reticulocytes and bilirubin are associated with more severe HS. People with severe HS are usually diagnosed at younger ages than those with moderate or mild disease. Those with mild HS may have compensated hemolysis. This means that red blood cells are created at the same rate as they are destroyed. These individuals may not have noticeable symptoms, and thus be diagnosed later in life.", "causes": "HS is caused by changes (mutations) in five different genes that code for proteins that are part of the membrane of red blood cells. These genes are ANK1, SLC4A1, SPTA1, SPTB, and EPB42. HS is inherited in an autosomal dominant manner 75% of the time and an autosomal recessive manner 25% of the time.", "affected": "HS affects 1 in 2,000 people in North America. It also occurs in other regions of the world, although not as well studied. No genetic changes that are more common in certain groups of people (founder mutations) have been reported. HS affects males and females equally. Age at diagnosis of HS is often between 3 – 7 years but can occur in infancy with severe disease or into adulthood with mild disease.", "related-disorders": "Hereditary nonspherocytic hemolytic anemia (HNSHA) is a term used to describe a group of rare, genetically transmitted blood disorders involving destruction of red blood cells. Anemia happens when the red blood cells are destroyed faster than they are replaced. In these disorders, the outside membrane of the cell is weakened, causing it to have an irregular, non-spherical shape and to burst (hemolyze) easily. These disorders are mainly caused by defects in the chemical processes involved in the breakdown of sugar molecules (glycolysis). Red blood cells depend on this process for energy. If this process is not working, the red blood cell cannot function properly and breaks down. The more common forms of HNSHA involve glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate kinase deficiency and hexokinase deficiency. There may be as many as 16 red blood cell enzyme abnormalities that may cause hereditary nonspherocytic hemolytic anemia. In addition, HNSHA may arise as the result of immune disorders, toxic chemicals and drugs, antiviral agents (eg, ribavirin), physical damage, and infections. (For more information on this disorder, choose hereditary hemolytic nonspherocytic anemia as your search term in the Rare Disease Database.)", "diagnosis": "HS is first suspected based on the clinical picture. People with HS often present with one or more of the characteristic features; anemia, splenomegaly, or jaundice. Jaundice is the most common feature that develops in young infants. Other common reasons that people with HS see a specialist are anemia with an unknown cause or anemia that is resistant to iron supplementation. The family history is suggestive if there are relatives with a diagnosis of HS, any of the characteristic features, or a history of surgical removal of the spleen (splenectomy) or gallbladder (cholecystectomy).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79430", "name_zh": "赫曼斯基-普德拉克综合征", "Name": "Hermansky-Pudlak syndrome", "disease_name": "Hermansky Pudlak Syndrome", "synonyms": "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells", "disease-overview": "Hermansky-Pudlak syndrome (HPS) is a rare, hereditary disorder that consists of decreased pigmentation (albinism) with visual impairment, and blood platelet dysfunction with prolonged bleeding. Some individuals have lung fibrosis, inflammatory bowel disease, immunodeficiency or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.", "symptoms": "The first symptoms of HPS often include easy bruising, bleeding gums, nose bleeds and excessive bleeding after surgery or accidents. The classic symptoms of Hermansky-Pudlak syndrome include the lack of color (pigmentation) in the skin, hair, and eyes (oculocutaneous", "causes": "HPS is caused by changes (variants or mutations) in 11 different genes. Variants in the HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S8, BLOC1S3, BLOC1S6, AP3D1, or BLOC1S5 genes are responsible for HPS types 1 to 11, respectively.  Research suggests that an abnormality of the formation or movement of lysosome-like vesicles in specific cells may be responsible for the development of the disease.", "affected": "HPS is a rare disorder that affects males and females in equal numbers. The worldwide prevalence of HPS is estimated at 1-9 per 1,000,000. Worldwide, HPS is the third most common form of albinism. HPS occurs in different populations, but it is most prevalent in people from Puerto Rico. In northwest Puerto Rico, HPS affects one of every 1,800 individuals, and one in 21 individuals of northwest Puerto Rican descent are believed to be carriers of a variant (mutation) in the HPS type 1 gene. A variant in the HPS type 3 gene is frequent in central Puerto Rico, where an estimated 1 of every 4,000 individuals are affected with HPS type 3.", "related-disorders": "Symptoms of other disorders can be similar to those of Hermansky-Pudlak syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The presence of a combination of hypopigmentation (light hair and skin color), characteristic eye findings and a history of bleeding episodes (bruising, nosebleeds, gum bleeding, prolonged bleeding after minor wounds or surgical procedure) can lead to consideration of a diagnosis of HPS. A specialized test demonstrating characteristic appearance of the blood platelets under an electron microscope is consistent with the diagnosis. The HPS diagnosis and HPS subtype is ultimately established by identifying mutations in one of the HPS genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, BLOC1S8, BLOC1S3, BLOC1S6, AP3D1, or BLOC1S5) by molecular genetic testing These tests are available on a clinical basis.", "therapies": "Protection from prolonged sun exposure is critical for individuals with HPS because their skin is sun-sensitive, and they are at risk for sun-induced skin damage (skin cancer, solar keratoses and melanocytic nevi)."}
{"OrphaCode": "ORPHA:293", "name_zh": "先天性单纯疱疹病毒感染", "Name": "Herpes, Neonatal", "disease_name": "Herpes, Neonatal", "synonyms": "Herpes Simplex Infection of Newborn", "disease-overview": "Neonatal herpes is a rare disorder affecting newborn infants infected with the herpes simplex virus (HSV), also called herpesvirus hominis. In most instances, a parent with oral or genital herpes transfers the disorder to an offspring before, during, or shortly after birth. Symptoms vary from mild to severe depending on which of two types of herpes simplex virus is involved. Type 1 HSV is responsible for the more severe cases of the disorder while patients with Type 2 HSV usually present with milder symptoms.", "symptoms": "Disseminated Neonatal Herpes Infection (about 25% of cases)", "causes": "Neonatal herpes is caused by an infection of the newborn by the herpes simplex virus (HSV).", "affected": "Neonatal Herpes is a very rare disorder.  It affects about 1 in 5,000 to 7,500 live births.  During their first year of life, these infants usually develop antibodies against the Herpes virus.  Only malnourished infants, those with an impaired immune system, or otherwise weakened infants tend to carry the infection after one year.", "related-disorders": "Symptoms of the following disorders can be similar to those of neonatal herpes.  Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of neonatal herpes is difficult and requires the physician to maintain a high level of skepticism and wariness. Frequently, neither parent is aware that he or she is carrying the virus. HSV infection must be considered for any neonate presenting with non-specific symptoms such as fever, poor feeding, lethargy and/or seizure. Any rash accompanyied by fluid-filled blisters (vesicles) should be cultured for HSV, and because such tests take days before the results are known, anti-viral treatment should be started.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:396", "name_zh": "慢性嗝逆", "Name": "Hiccups, Chronic", "disease_name": "Hiccups, Chronic", "synonyms": "Hiccough, Chronic", "disease-overview": "A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time. Episodes that last for more than two days and less than a month are sometimes called persistent hiccups. On rare occasions, hiccups persist even longer than a month or recur frequently over an extended period of time. The longest recorded episode of these chronic hiccups lasted 60 years.", "symptoms": "Hiccups are unmistakable, and rarely taken for anything else. They often start for no apparent reason, and usually go away on their own in a few minutes. Of concern is the period of time required for an episode to run its course. Hiccups that persist over a period of time may cause exhaustion and weight loss from lack of sleep and the interruption of normal eating patterns.", "causes": "The cause of hiccups often is not known, but some of the triggers sometimes thought to cause them include the following: spicy foods, hot liquids, any disease or illness that irritates the nerves that control the diaphragm.", "affected": "Hiccups affect males more often than females. Hiccups occur in practically every human being, but chronic hiccups are very rare.", "related-disorders": "There are many disorders involving the autonomic nervous system which controls unconscious activities of the body such as breathing, sweating, heartbeat, hiccups, coughing, etc.", "diagnosis": "The diagnosis of chronic hiccups may be obvious, but blood, imaging, and other laboratory studies may be used to determine the underlying cause.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:84085", "name_zh": "Hinman综合征", "Name": "Hinman syndrome", "disease_name": "Hinman Syndrome", "synonyms": "Hinman-Allen syndrome", "disease-overview": "", "symptoms": "A common presentation of HS is urinary incontinence without symptoms of urgency or the sudden, uncontrollable need to urinate. This is similar to symptoms in patients with neurogenic bladder. Parents may notice their child not urinating as frequently or urinating too much. When asked, parents may report that the patient does not urinate; however, when they are requested or reminded to urinate, the child may empty their bladder. The patient will often report that they cannot feel the sensation of their bladder being full. Other signs include starting and stopping of the urine stream (intermittent stream), squeezing abdominal muscles to urinate and increased urine left in the bladder (residual volume) despite voiding multiple times. These can lead to increased pressure in the bladder due to increased urine volume and bladder muscle contraction. Recurrent UTIs, involuntary defecation (encopresis) and constipation can also be seen in patients with HS.", "causes": "There continues to be disagreement in the scientific community about whether the disease is acquired or inherited. In other words, it is not clear whether parents pass this condition on to their children or if the disorder occurs by chance or because of environmental causes. Children under higher psychosocial stress are likely to have an increased risk. Children with behavioral issues or developmental delays will sometimes voluntarily contract the external sphincter (bladder outflow valve) to prevent urination, which can further aggravate this issue. A hallmark of HS is called detrusor-external sphincter dyssynergia which means the muscle that contracts the bladder (detrusor) and the external sphincter become disconnected. The nerve signals that usually trigger the bladder to contract and the sphincter to open for urine to flow out become unsynchronized and lead to urinary dysfunction. Similarly, disordered signals from the gastrointestinal tract can contribute to constipation and lack of control over bowel movements (fecal incontinence) in patients with HS.", "affected": "The prevalence of HS is not known. The medical literature has described that HS occurs more frequently in males, but it has also been reported that females are more likely to develop complications from the disorder. This condition usually begins during childhood, but rarely, HS can occur during puberty, which is associated with increased severity.", "related-disorders": "Neurogenic bladder occurs because of a disruption of messages between the nervous system and bladder due to abnormalities in brain, spinal cord or nerves. Causes include tethered cord (anchoring of the spinal cord to nearby tissues), multiple sclerosis, diabetes mellitus, stroke, brain tumor or spinal cord injury. The presence of a sacral dimple is a typical telltale sign in children with tethered cord or lower spinal cord abnormalities. Symptoms include intermittent voiding, urinary retention and incontinence without an associated urge to void.", "diagnosis": "No formal diagnostic criteria have been established for Hinman syndrome. A diagnosis is suspected based upon identification of characteristic findings, a detailed patient and family history, a thorough clinical evaluation and voiding records. This condition is managed by pediatricians, nephrologists (kidney doctors) and urologists (surgical kidney and bladder doctors).", "therapies": "Treatment and Prognosis"}
{"OrphaCode": "ORPHA:388", "name_zh": "先天性巨结肠", "Name": "Hirschsprung disease", "disease_name": "Hirschsprung Disease", "synonyms": "colonic aganglionosis", "disease-overview": "Hirschsprung disease (HSCR) is a birth defect. This disorder is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel in an infant. The absence of ganglion cells causes the muscles in the bowels to lose their ability to move stool through the intestine (peristalsis). Peristalsis is a normal process of the body. Peristalsis creates wave-like contractions from the muscles lining the intestines. These contractions propel stool and other waste material through the digestive system. Ineffective peristalsis leads to stool backing up in the intestines. Affected individuals can develop constipation and partial or total obstruction of the bowels. Pain and discomfort can result. If not treated, a potentially serious bacterial infection may develop. The specific symptoms can vary from one person to another. HSCR can occur as an isolated problem or as part of a broader disorder that affects multiple organ systems.", "symptoms": "Symptoms in the newborn period include failure to pass the meconium within a short time after birth. Meconium is the dark sticky substance that is normally present in the intestine at birth and is passed as an infant’s first bowel movement after birth. Failure to pass a first stool for 24-48 hours is suggestive of HSCR.", "causes": "Hirschsprung disease that occurs as an isolated problem has been associated with mutations in several different genes. Approximately 50% of affected individuals have one of these gene abnormalities. This gene changes cause people to be susceptible or predisposed to developing the disorder. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or activated under certain circumstances, such as due to particular environmental factors (multifactorial inheritance).", "affected": "Hirschsprung disease affects males 3 to 4 times more often than females, although long-segment HSCR has a gender ratio of 1:1. The disorder occurs in approximately one in 5,000 live births. It is usually apparent shortly after birth, but may present in older children and adults. Hirschsprung disease should be considered in people with a history of severe constipation.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hirschsprung disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract. Peristalsis propels food and other material through the digestive system under the control of nerves, pacemaker cells and hormones. CIP usually results from abnormalities affecting the muscles or nerves that are involved in peristalsis. Consequently, peristalsis becomes altered and inefficient. The symptoms of CIP resemble those caused by mechanical obstruction of the small bowel. Mechanical obstruction refers to something (such as a tumor, scar tissue, etc.) physically blocking the passage of food and other material through the GI tract. In individuals with CIP no such physical obstruction is present, hence the term pseudo-obstruction. Common symptoms include nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. CIP can potentially cause severe, even life-threatening complications. (For more information on this disorder, choose Intestinal pseudoobstruction as your search term in the Rare Disease Database.)", "therapies": "In almost all cases, treatment of HSCR requires surgery to remove the part of the colon and/or rectum that lacks the normal nerve development, and to join the two healthy ends together. There are three standard surgical procedures designed to correct this disorder. The choice of procedure is a function of the training and experience of the surgeon. Each procedure removes the affected part and attaches the healthy part of the bowel to the rectum completing what is known as a pull-through procedure. Currently most procedures are performed in a single stage."}
{"OrphaCode": "ORPHA:2157", "name_zh": "组氨酸血症", "Name": "Histidinemia", "disease_name": "Histidinemia", "synonyms": "HAL deficiency", "disease-overview": "Histidinemia is a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amounts of histidine, imidazole pyruvic acid, and other imidazole metabolism products are excreted in the urine. The majority of individuals with histidinemia have no obvious symptoms that would indicate that a person has this disorder (asymptomatic). Histidinemia is inherited in an autosomal recessive pattern.", "symptoms": "Histidinemia is considered a benign condition. For years, intellectual disability and speech disorders were associated with histidinemia. However, these findings are now considered coincidental and not due to the metabolic defect of histidinemia because reports of follow-up from newborn screening have demonstrated that the majority of infants with histidinemia do not develop clinical symptoms (asymptomatic). Nevertheless, clinical symptoms have been reported in some patients with histidinemia. To reconcile this with the benign findings from newborn screening, it has been suggested that histidinemia might be a risk factor for the development of CNS problems, and that such problems might develop only in an unfavorable circumstance such as an abnormal perinatal event.", "causes": "Histidinemia is inherited in an autosomal recessive pattern. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Histidinemia is one of the most common inborn errors of metabolism. Based upon newborn screening of more than 20 million infants in several countries, histidinemia is estimated to occur in about one in 11,500 births overall. The disorder appears to be most prevalent among people of French Canadian or Japanese descent. Based upon newborn screening reports, approximately one in 8,600 infants in Quebec and one in 9,500 infants in Japan are affected by the disorder. The abnormality begins at birth and affects males and females in equal numbers. Histidinemia is now thought to be a primarily benign disorder.", "related-disorders": "", "diagnosis": "In some states in the United States (e.g., New York and Massachusetts) routine screening of newborns for histidinemia was conducted through blood or urine tests. However, newborn screening for histidinemia has been discontinued. A diagnosis of histidinemia may be made based upon increased levels of histidine in the blood or urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98293", "name_zh": "霍奇金淋巴瘤", "Name": "Hodgkin Disease", "disease_name": "Hodgkin Disease", "synonyms": "Hodgkin Disease", "disease-overview": "Hodgkin’s disease is one of a group of cancers known as a lymphoma. Lymphoma is a general term used to describe cancers that affect the lymphatic system, especially the lymph nodes. Tumors often form in the lymph nodes (places where lymphatic vessels unite) and/or the area around the nodes. Fever, night sweats, and weight loss may occur along with swollen lymph nodes. The exact cause of Hodgkin’s disease is unknown.", "symptoms": "Usually, the first sign of Hodgkin’s disease is a swollen lymph node. Two-thirds of the time, a lymph node in the neck is affected. Otherwise, lymph nodes in the armpits, chest, groin, or abdomen are affected.  The disease may spread to other lymph nodes, the area around the nodes, the spleen, liver, lungs, and bone marrow.  Some affected individuals may also have fever, night sweats, weight loss, and, rarely, bone pain. In some cases, abnormal enlargement of the spleen (splenomegaly) or the liver (hepatomegaly) may occur. Additional symptoms may include abnormalities affecting the gastrointestinal system and/or kidneys.", "causes": "The exact cause of Hodgkin’s disease is not known. Some preliminary research suggests that an infectious agent, such as a virus (e.g., Epstein Barr Virus) may play some role in Hodgkin’s disease. Recent studies indicate that there may be a genetic susceptibility to Hodgkin’s disease in the young adult form of the disorder. It is also felt that environmental factors or immune system deficiencies may play a role in the development of Hodgkin’s disease. Thus, the cause may be multifactorial.", "affected": "The majority of individuals with the adult form of Hodgkin’s disease are between 15 and 40 years of age at the time of diagnosis. A smaller number of individuals are affected after the age of 50. Hodgkin’s disease may also affect children. Hodgkin’s disease accounts for less than one percent of all cases of cancer in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hodgkin’s Disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Non-Hodgkin’s lymphomas are a group of cancers of the lymphatic system. Swollen lymph nodes in the neck or groin occur and usually spread throughout the body.  Anemia (abnormally low levels of red blood cells), leukemia (abnormally high levels of abnormal white blood cells), weight loss, fever, night sweats, and weakness may also occur.  The cause of non-Hodgkin’s lymphoma is unknown but it may be caused by a virus.  Non-Hodgkin’s Lymphoma may occur at any age.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2162", "name_zh": "前脑无裂畸形", "Name": "Holoprosencephaly", "disease_name": "Holoprosencephaly", "synonyms": "holoprosencephaly sequence", "disease-overview": "Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal complete separation of the left and right halves of the forebrain, there is an abnormal continuity between the two sides. There are several different types of holoprosencephaly. In the alobar form, there is no separation between the right and left halves at all. In semilobar HPE, at least some separation of the two halves is present. In the lobar form, most of the brain has separated into right and left sides, though there is incomplete division into the two halves.", "symptoms": "Holoprosencephaly is a malformation sequence with a very variable degree of severity for both the brain and facial abnormalities. Intellectual disability is associated with HPE and seizures are often present.", "causes": "Holoprosencephaly is a birth defect that arises during the first few weeks of the pregnancy. Diabetes in the mother during the pregnancy can increase the risk of holoprosencephaly in the fetus. However, for most children, no known intrauterine exposure is identified that is causally related to holoprosencephaly in that child.", "affected": "Holoprosencephaly affects males and females in equal numbers before birth and has been reported in many ethnic groups. The incidence of holoprosencephaly has been estimated at 1 in 250 during early embryonic development, and approximately 1 in 16,000 live births.", "related-disorders": "Holoprosencephaly can also occur in association with malformations in other organ systems that are not directly related to holoprosencephaly.", "diagnosis": "", "therapies": "The diagnosis of holoprosencephaly is usually made by MRI or CT of the brain. Holoprosencephaly can sometimes be detected prenatally through ultrasound or MRI, though mild forms may not be reliably detected prenatally."}
{"OrphaCode": "ORPHA:228184", "name_zh": "心-手综合征", "Name": "Heart-hand syndrome", "disease_name": "Holt Oram Syndrome", "synonyms": "atriodigital dysplasia", "disease-overview": "Holt-Oram syndrome is a disorder that affects approximately 1 in 100,000 individuals. It is characterized by abnormalities in the bones of the upper limb, a family or personal history of a congenital heart malformation, and/or an abnormality in the electrical impulses that coordinate the muscle contractions of the heart (cardiac conduction defect). In some affected individuals, an abnormal wrist (carpal) bone is the only evidence of the disease. Seventy-five percent of those affected have a congenital heart malformation. Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with a change (mutation) in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.", "symptoms": "The symptoms and physical findings associated with Holt-Oram syndrome vary greatly from person to person, even within the same family. Upper limb malformations range from abnormally long thumbs that look like fingers (triphalangy) to an absent thumb bone or absent thumb. Other types of upper limb malformations may also be present including underdevelopment or absence of the bones in the forearm (radius and ulna), fusion or abnormal development of thumb and wrist bones (thenar and carpal), and abnormal position of the thumb, forearm or shoulders. Affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down (pronation), or rotate the arms outward with the palms facing upward (supination). More severe cases include a malformation in which the hands are attached to shoulder with absent or shortened arms (phocomelia). In some affected individuals, an abnormal wrist (carpal) bone is the only evidence of the disease.", "causes": "The only gene known to be associated with Holt-Oram syndrome is the TBX5 gene. A TBX5 gene mutation has been identified in approximately 74% of individuals affected with Holt-Oram syndrome. This is likely to be an underestimate of the true TBX5 mutation frequency, since genetic testing does not always detect all types of mutations. Currently, there are more than 70 known mutations in the TBX5 gene that cause Holt-Oram syndrome. Potential causes for the remainder of affected individuals include incorrect reading and translation of the TBX5 gene during protein production.", "affected": "Holt-Oram syndrome is a rare genetic disorder that occurs in many racial and ethnic groups; and affects males and females in equal numbers. The estimated prevalence is 1/100,000 livebirths.", "related-disorders": "Symptoms of the following disorders may be similar to those of Holt-Oram syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Okihiro syndrome (Duane-radial ray syndrome) is an autosomal dominant genetic condition associated with an abnormality in the SALL4 gene. SALL4-related disorders are characterized by upper limb, vision, hearing and kidney abnormalities and can also be associated with heart defects.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:394", "name_zh": "经典型高胱氨酸尿症", "Name": "Homocystinuria due to cystathionine beta-synthase deficiency", "disease_name": "Homocystinuria due to Cystathionine Beta-Synthase Deficiency", "synonyms": "classic homocystinuria", "disease-overview": "Cystathionine Beta-Synthase (CBS) deficiency, more commonly referred to as homocystinuria is a rare metabolic condition characterized by an excess of the compound homocysteine in the urine and blood. CBS deficiency is one of the conditions which often result from deficiency of any one of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid (cysteine)–or, less commonly, impaired conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. In most cases, homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase and this results in CBS deficiency. Infants who develop homocystinuria due to CBS deficiency (which is also known as classical homocystinuria) may fail to grow, or grow longer too fast, often have difficulty with gain weight at the expected rate (failure to thrive) and have developmental delays.", "symptoms": "The symptoms associated with homocystinuria due to CBS deficiency are highly variable. Some affected individuals may have only very mild signs of the disorder; others may have many different symptoms including some potentially life-threatening complications. Individuals can be separated into two distinct groups: those who respond to therapy with pyridoxine (vitamin B6) and those who do not. Generally, individuals who respond to pyridoxine therapy have a milder form of the disorder, most likely because of residual activity of the CBS enzyme, but this does not mean that they will not have life-threatening complications. In addition, the presence and specific location of blood clots also determines the severity of associated symptoms in each individual.", "causes": "Homocystinuria due to CBS deficiency is caused by changes (mutations) of a gene that regulates the production of the enzyme cystathionine beta-synthase. Mutations of the CBS gene may result in reduced activity of the cystathionine beta-synthase enzyme, which is involved in the conversion of the essential amino acid methionine to another amino acid (cysteine). Deficiency of the enzyme leads to increased levels of methionine and the compound homocysteine in bodily fluids, reduced concentrations of cysteine, and the characteristic symptoms and physical findings seen in those with homocystinuria due to CBS deficiency. More than 160 different mutations of the CBS gene have been identified in individuals with the disorder, with many affecting only one or a small number of affected families (kindreds).", "affected": "Homocystinuria due to CBS deficiency is a rare disorder that affects males and females in equal numbers. Population studies suggest that the worldwide frequency of homocystinuria in the general population is one in 344,000. In individual countries, the prevalence may be higher. In Ireland the prevalence has been estimated to be 1 in 65,000. In Germany, the prevalence has been estimated at 1 in 17,500. Several studies in four European countries, suggested that the prevalence of homocystinuria due to CBS deficiency is as high as 1 in 6,400 to 1 in 20,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of homocystinuria due to CBS deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of homocystinuria due to CBS deficiency may be suspected based upon identification of characteristic findings. A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history and a variety of specialized tests. Tests that can detect elevated levels of homocysteine, methionine, or homocysteine in the plasma or urine may be used to help confirm a diagnosis of homocystinuria. Usually individuals will undergo genetic testing looking for changes in both copies of the CBS gene to confirm their diagnosis.  Historically and occasionally now, tests can be performed to determine the level of enzyme function in certain cells of the body to confirm CBS deficiency.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91413", "name_zh": "先天性霍纳综合征", "Name": "Horner Syndrome", "disease_name": "Horner Syndrome", "synonyms": "Bernard-Horner Syndrome", "disease-overview": "Horner syndrome is a relatively rare disorder characterized by a constricted pupil (miosis), drooping of the upper eyelid (ptosis), absence of sweating of the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). These are the four classic signs of the disorder.", "symptoms": "The characteristic physical signs and symptoms associated with Horner syndrome usually affect only one side of the face (unilateral).  These include drooping upper eyelid; contracted pupil; dryness (lack of sweating) on the same side of the face (ipsilateral) as the affected eye; and retraction of the eyeball.", "causes": "Horner syndrome may result from any one of a variety of factors, including carotid artery dissection; the development of a tumor in neck or chest cavity, particularly a neuroblastoma and a tumor of the upper part of the lung (Pancoast tumor); the development of a lesion in midbrain, brain stem, upper spinal cord, neck, or eye orbit; inflammation or growths affecting the lymph nodes of the neck; and/or surgery or other forms of trauma to the neck or upper spinal cord.", "affected": "Horner syndrome is a rare disorder that affects males and females in equal numbers and may occur at any age, among any ethnic grouping in any geographic location.", "related-disorders": "Symptoms of the following disorders can be similar to those of Horner’s Syndrome.  Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of Horner syndrome and the localization of the lesions that cause the disorder can be determined by pharmacological tests combined with imaging techniques such as magnetic resonance imaging and ultrasonography of the carotid artery.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:69739", "name_zh": "Athabaskan脑干发育不良综合征", "Name": "Athabaskan brainstem dysgenesis syndrome", "disease_name": "Human HOXA1 Syndromes", "synonyms": "Athabaskan brainstem dysgenesis syndrome (ABDS)", "disease-overview": "Human HOXA1 syndromes are rare disorders with complex neurological and systemic symptoms. These syndromes are found among a few American Indian tribes such as the Navajo and Apaches, who are related to Athabaskan Indians of northern Canada.", "symptoms": "Both populations studied (those related to Athabaskan Native Americans and the groups from the Middle East) presented with Duane syndrome and/or horizontal gaze palsy, both of which are characterized by restrictions in horizontal eye movements. Both populations also shared deafness, developmental delays, and a spectrum of internal carotid artery and conotruncal heart malformations. Facial asymmetries and mild external ear malformations were also sometimes present.", "causes": "Human HOXA1 syndromes are inherited as autosomal recessive genetic conditions.", "affected": "About the only thing known about the distribution, incidence and/or prevalence of the Human HOXA1 Syndromes is that they have only been identified among three groups in North America, Saudi Arabia, and Turkey. Each group harbors its own founder mutation, suggesting that there is no epidemiological relationship between the diseases in these different locations. Based on a study of languages among North American Indian populations, anthropologists and clinicians believe that the mutation found in the Native American population originated in a population that crossed the Bering Sea to Alaska and northern Canada about 4,000 years ago.", "related-disorders": "Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions. In addition, when the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. In some cases, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot). Duane syndrome falls under the larger heading of strabismus (misalignment of the eyes) under the subclassification of incomitant strabismus (misalignment of the eyes that varies with gaze directions) and subheading of extraocular fibrosis syndromes (conditions associated with fibrosis of the muscles that move the eyes).", "diagnosis": "The diagnosis of human HOXA1 syndromes may be confirmed by a thorough clinical evaluation of members of the suspect populations and a variety of specialized tests, particularly advanced imaging techniques. For example, magnetic resonance angiography (MRA) of the head and neck will reveal malformations of the carotid arteries and outflow tracts of the heart. Other magnetic resonance studies will show whether parts of the brain are lacking or underdeveloped.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:399", "name_zh": "亨廷顿舞蹈病", "Name": "Huntington disease", "disease_name": "Huntington Disease", "synonyms": "Chronic Progressive Chorea", "disease-overview": "Huntington’s disease is a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness, agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more. Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments.", "symptoms": "Huntington’s disease is characterized by rapid uncontrollable muscle movements such as tics or muscle jerks (choreiform movements or chorea). This disorder causes a loss of coordination and personality changes.  As the disease progresses, the ability to speak may be impaired, memory may fade, and the involuntary jerky muscle movements (chorea) become more severe.", "causes": "Huntington’s disease is inherited as an autosomal dominant trait.  Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "About 30,000 people in the United States have Huntington’s disease and another 200,000 are at risk of developing the condition. Symptoms commonly develop between ages 30 and 50. The disease progresses slowly and a person may live for another 15-20 years after the onset of symptoms.", "related-disorders": "Symptoms of the following disorders can be similar to those of Huntington’s disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hallervorden-Spatz disease is a rare progressive disorder that affects muscle movement.  It is associated with the degeneration of the nervous system.  Hallervorden-Spatz Disease is characterized by uncontrolled muscle movements (dystonia), muscular rigidity, and the loss of cognitive abilities (dementia).  The symptoms of this disease typically begin during childhood, although occasionally the disease begins in adulthood.  Approximately one-third of people with Hallervorden-Spatz disease experience sudden jerky muscle movements.  Other less frequent symptoms may include joint pain (dysarthria), mental retardation, facial grimacing, impaired speech (dysphasia), and impaired vision.  (For more information on this disorder, choose Hallervorden-Spatz as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:740", "name_zh": "Hutchinson-Gilford早老症", "Name": "Hutchinson-Gilford progeria syndrome", "disease_name": "Hutchinson-Gilford Progeria Syndrome", "synonyms": "HGPS", "disease-overview": "Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal, genetic condition of childhood with striking features resembling premature aging. Children with progeria usually have a normal appearance in early infancy. At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight. They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small nose; and a subtle blueness around the mouth. In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities. Individuals with HGPS develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood. Children with progeria die of heart disease (atherosclerosis) at an average age of 14.5 years. As with any person suffering from heart disease, children with progeria can experience  high blood pressure, strokes, angina (chest pain due to poor blood flow to the heart itself), enlarged heart, and heart failure, all conditions associated with aging.", "symptoms": "Newborns with HGPS may have certain suspicious findings present at birth, such as unusually taut, shiny, hardened (i.e., scleroderma-like) skin over the buttocks, upper legs, and lower abdomen; bluish discoloration of the skin and mucous membranes within the mid-portion of the face (midfacial cyanosis); and/or a sculptured nose. Profound, progressive growth delay usually becomes evident by approximately 24 months of age, resulting in short stature and weight that remains extremely low for height. Affected children who are 10 years of age typically have a height approximating that of an average three-year-old child.", "causes": "HGPS is caused by a single-letter misspelling in a gene on chromosome 1 that codes for lamin A, a protein that is a key component of the membrane surrounding the cell’s nucleus. The abnormal lamin A protein produced in HGPS is called progerin.", "affected": "HGPS is a rare disorder that appears to affect males and females equally, and all races equally. The disorder was originally described in the medical literature in 1886 (J. Hutchinson) and 1897 (H. Gilford). The prevalence of HGPS is approximately 1 in 20 million, so at any given time, there are approximately 400 children living with progeria worldwide. Two sets of affected identical twins have been reported in the literature. As of December 2020, the Progeria Research Foundation International Progeria Registry has identified a total of 131 children and young adults living with progeria worldwide including 20 living in the US.", "related-disorders": "Symptoms of the following disorders can be similar to those of HGPS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hallermann-Streiff syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye (ocular) abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and/or short stature (i.e., dwarfism). Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually prominent forehead and/or sides of the skull (frontal and/or parietal bossing); a small, underdeveloped lower jaw (hypoplastic mandible); a narrow, highly arched roof of the mouth (palate); and a thin, pinched, tapering nose. Many affected individuals also have clouding of the lenses of the eyes at birth (congenital cataracts); unusually small eyes (microphthalmia); and/or other ocular abnormalities. Dental defects may include the presence of certain teeth at birth (natal teeth) and absence (hypodontia or partial adontia), malformation, and/or improper alignment of teeth. Hallermann-Streiff syndrome appears to occur randomly for unknown reasons (sporadically) and may be the result of a new dominant genetic mutation. (For more information on this disorder, choose Hallermann-Streiff as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2177", "name_zh": "积水型无脑畸形", "Name": "Hydranencephaly", "disease_name": "Hydranencephaly", "synonyms": "Hydroanencephaly", "disease-overview": "Hydranencephaly is a central nervous system disorder characterized by an enlarged head and neurological deficits. The exact cause of Hydranencephaly is not known. This extremely rare form of Hydrocephalus involves the absence of portions of the brain. Results of neurologic examination in newborns may be normal or abnormal. The head usually appears enlarged at birth. Vision impairment, lack of growth and intellectual deficits are symptomatic of this disorder.", "symptoms": "Hydranencephaly can usually be detected at birth due to an enlarged head. Some infants may appear healthy at birth but may later fail to grow at a normal rate.  Irritability, poor feeding, infantile spasms or seizures,  and spasticity or rigidity of arms and legs are symptomatic of this disorder.  Some affected individuals may experience an exaggeration of muscular reflexes (hyperreflexia) and/or increased muscle tone (hypertonia).  Poor body temperature regulation, vision impairment and mental retardation may also occur.", "causes": "Hydranencephaly is suspected to be an inherited disorder although the mode of transmission remains unknown.  Some researchers believe that prenatal blockage of the carotid artery where it enters the cranium may be a cause of this disorder.  However, the reason for the blockage is not known.", "affected": "Hydranencephaly is a rare disorder that affects males and females in equal numbers.", "related-disorders": "Porencephaly is a disorder of the central nervous system involving cerebral cysts or cavities in cortical brain tissue.  The disorder can occur before or after birth.  Fluid which can accumulate in the head can be drained through a surgical shunt procedure.  The prognosis is variable.  Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled.", "diagnosis": "The diagnosis of Hydranencephaly may be confirmed based upon a thorough clinical evaluation, the identification of characteristic physical findings, a detailed patient history, and advanced imaging techniques, such as transillumination, an x-ray of the blood vessels using dye (angiogram), or computerized tomography (CT scan). During CT scanning, a computer and x-rays are used to create a file showing cross-sectional images of internal structures such as the brain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2185", "name_zh": "先天性脑积水", "Name": "Hydrocephalus", "disease_name": "Hydrocephalus", "synonyms": "Hydrocephaly", "disease-overview": "Hydrocephalus is a condition in which abnormally widened (dilated) cerebral spaces in the brain (ventricles) inhibit the normal flow of cerebrospinal fluid (CSF). The cerebrospinal fluid accumulates in the skull and puts pressure on the brain tissue. An enlarged head in infants and increased cerebrospinal fluid pressure are frequent findings but are not necessary for the diagnosis of Hydrocephalus. There are several different forms of Hydrocephalus: communicating hydrocephalus, non-communicating hydrocephalus or obstructive hydrocephalus, internal hydrocephalus, normal pressure hydrocephalus, and benign hydrocephalus.", "symptoms": "Hydrocephalus is characterized in children by an unusually large head (cephalomegaly); a thin, transparent scalp; a bulging forehead with prominent spaces between the bones of the skull (fontanelles); and a downward gaze.  Other symptoms may include convulsions, abnormal reflexes, a slowed heartbeat and respiratory rate, headache, vomiting, irritability, weakness, and problems with vision.  Blindness and continuing mental deterioration may occur if treatment is not administered.", "causes": "The cause of hydrocephalus is not known.  Very few cases are caused by a birth defect; others can follow hemorrhage, viral infection, or meningitis.  A genetic predisposition has been proposed, with transmission through autosomal recessive or X-linked genes.", "affected": "Most cases of Hydrocephalus are diagnosed in the first 2 years of life, but onset may occur at any age, depending on the cause.  Most types of Hydrocephalus (with the exception of those caused by an X-linked genetic trait) seem to affect males and females equally.", "related-disorders": "The following disorders can occur in conjunction with Hydrocephalus. Comparisons may be useful for differential diagnosis.", "diagnosis": "The diagnosis of hydrocephalus may be confirmed based upon a thorough clinical evaluation, the identification of characteristic physical findings, a detailed patient history, and advanced imaging techniques, such as transillumination, an x-ray of the blood vessels using dye (angiogram), computerized tomography (CT scan), or magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a file showing cross-sectional images of internal structures such as the brain. During MRI, a magnetic field and radio waves are used to create cross-sectional images of certain structures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:101090", "name_zh": "高IgM综合征3型", "Name": "Hyper IgM Syndromes", "disease_name": "Hyper IgM Syndromes", "synonyms": "HIGM", "disease-overview": "", "symptoms": "The signs and symptoms of hyper IgM syndromes can vary from one person to another. This is true even among members of the same family. Affected individuals are more susceptible to developing various infections and cannot fight off infections well once they occur. Without treatment, these disorders can become life-threatening during childhood or adolescence. The initial symptoms of hyper IgM syndrome usually develop in the first or second year of life.", "causes": "Hyper IgM syndromes are caused by variations (mutations) in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body. X-linked hyper IgM syndrome is caused by a variation in the CD40LG gene. Hyper IgM syndrome type 2 is caused by a variation in the AICDA (also called AID) gene. Hyper IgM syndrome type 3 is caused by a variation in the CD40 gene. The genetic cause of hyper IgM syndrome type 4 is unknown. Hyper IgM syndrome type 5 is caused by a variation in the UNG gene.", "affected": "X-liked hyper IgM syndrome is estimated to affect about 2 in 1,000,000 newborn boys. The autosomal recessive forms of hyper IgM syndrome are extremely rare. Hyper IgM syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. The other forms of hyper IgM syndrome have only been described in the medical literature in a very small number of people. Because rare disorders often go undiagnosed, determining their true frequency in the general population is difficult. The X-linked form predominately affects males; the autosomal recessive forms affect both males and females. X-linked hyper IgM syndrome accounts for about 70% of people with this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of hyper IgM syndromes. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hyper IgM syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, a variety of specialized tests, including laboratory testing that can detect a pattern of immune system defects.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:306773", "name_zh": "过度惊吓反应症", "Name": "Hyperekplexia", "disease_name": "Hyperekplexia", "synonyms": "familial startle disease", "disease-overview": "", "symptoms": "There are major and minor forms of hyperekplexia. In the major form, hyperekplexia is characterized by an unusually extreme startle reaction to sudden unexpected noise, movement, or touch. Arching of the head (exaggerated head-retraction reflex or HRR), spastic jerking movements (myoclonic jerks) or falling stiffly to the ground (without losing consciousness) tend to occur when the individual is startled.  The frequency and severity of the startle response can be increased by emotional tension, stress, or fatigue.", "causes": "In most cases, hyperekplexia is inherited as an autosomal dominant trait, but can also follow autosomal recessive or X-linked inheritance.  Mutations in the following genes are associated with the condition: GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9 (X-linked).  Most affected individuals have a mutation in either the GLRA1, SLC6A5 gene and have an affected parent.", "affected": "Hyperekplexia is a rare genetic disorder that is most often present at birth and affects both males and females. In some individuals, onset of the disorder may be delayed until adolescence or adulthood. Hyperekplexia affects approximately one in 40,000 people in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hyperekplexia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hyperekplexia is one thing that should be considered when an infant has seizures. A family history is an important part of the diagnosis, because of the usual genetic linkage. The major features of hyperekplexia are an excessive startle reflex/response, stiffness at birth, and brief impaired voluntary movement following the startle response", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163", "name_zh": "遗传性高铁蛋白血症-白内障综合征", "Name": "Hereditary hyperferritinemia-cataract syndrome", "disease_name": "Hyperferritinemia Cataract Syndrome", "synonyms": "hereditary hyperferritinemia cataract syndrome", "disease-overview": "Hyperferritinemia-cataract syndrome is an extremely rare genetic disorder characterized by the early onset of cataracts associated with persistently elevated levels of ferritin in the blood plasma. Ferritin is a protein that binds to iron and is used as an indicator of the body’s iron stores. Cataracts are the only known complication associated with this disorder. Hyperferritinemia-cataract syndrome is caused by mutations to ferritin light chain (FTL) gene. This mutation is inherited as an autosomal dominant trait.", "symptoms": "The only known symptom of hyperferritinemia-cataract syndrome is the early onset of cataracts, usually between the second and fourth decades of life. However, onset of the disorder has been reported in children as young as five and adults more than 40. The overall prognosis of the disorder is very good. The severity of the hyperferritinemia-cataract syndrome can vary greatly from one person to another even among members of the same family. Some individuals with characteristic mutations of the FLT gene have not developed any symptoms (asymptomatic).", "causes": "Hyperferritinemia-cataract syndrome is caused by mutations of the ferritin light chain (FTL) gene and is inherited as an autosomal dominant trait.", "affected": "Hyperferritinemia-cataract syndrome is an extremely rare disorder that affects males and females in equal numbers. More than 100 families with the disorder have been described in the medical literature. The prevalence of hyperferritinemia-cataract syndrome has been estimated at 1 in 200,000 people in the general population. Because the disorder is so rare, it often goes unrecognized or undiagnosed, making it difficult to determine the disorder’s true frequency in the general population. Hyperferritinemia-cataract syndrome was first described in the medical literature in 1995.", "related-disorders": "Symptoms of the following disorders can be similar to those of hyperferritinemia-cataract syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hyperferritinemia-cataract syndrome is made based upon identification of characteristic symptoms (e.g., cataracts), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests such as blood tests, which can reveal elevated levels of ferritin in the blood plasma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:412", "name_zh": "β脂蛋白异常", "Name": "Hyperlipoproteinemia Type III", "disease_name": "Hyperlipoproteinemia Type III", "synonyms": "broad beta disease", "disease-overview": "Hyperlipoproteinemia type III is a genetic disorder that causes the body to breakdown (metabolize) fats (lipids) incorrectly. This results in the buildup of lipids in the body (hyperlipidemia) and can lead to the development of multiple small, yellow skin growths (xanthomas). Affected individuals may also develop the buildup of fatty materials in the blood vessels (atherosclerosis) blocking blood flow and potentially leading to heart attack or stroke. Hyperlipoproteinemia type III affects 1-5,000 to 1 in 10,000 people in the general population. Without treatment, affected individuals are 5-10 times more likely to develop cardiovascular disease.", "symptoms": "The symptoms of hyperlipoproteinemia type III may vary from person to person. Some individuals may not show any symptoms (asymptomatic). Symptoms of hyperlipoproteinemia type III often do not appear unless additional conditions are present such as diabetes, obesity, or hypothyroidism.", "causes": "Hypolipoproteinemia type III is a genetic condition caused by changes in the APOE gene. The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats, carrying them through the bloodstream, and helping clear them from the bloodstream.", "affected": "Hyperlipoproteinemia type III affects males more often than females. Of the 10-15% of people who develop symptoms, this most often happens in early adulthood. Most people begin to experience symptoms in early adulthood, although some individuals have symptoms begining in childhood or late adulthood. Women are rarely affected until after menopause.", "related-disorders": "Symptoms of the following disorders can be similar to those of hyperlipoproteinemia type III:", "diagnosis": "A diagnosis of hyperlipoproteinemia type III can be made based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic findings such as xanthoma striata palmaris. Arterial imaging and a cardiac stress test can identify signs of silent atherosclerosis in young adults.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:77296", "name_zh": "Morgagni-Stewart-Morel综合征", "Name": "Morgagni-Stewart-Morel syndrome", "disease_name": "Hyperostosis Frontalis Interna", "synonyms": "Endostosis Crani", "disease-overview": "Hyperostosis Frontalis Interna is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population. The disorder may be found associated with a variety of conditions such as seizures, headaches, obesity, diabetes insipidus, excessive hair growth and sex gland disturbances. Increased serum alkaline phosphatase and elevated serum calcium may occur.", "symptoms": "The major feature of Hyperostosis Frontalis Interna is excessive growth or thickening of the frontal bone of the head.  This excess growth can only be seen in an x-ray.  As a result, scientists feel that this condition may be much more prevalent than suspected, but often goes undetected.  Many people have no apparent symptoms.", "causes": "Hyperostosis Frontalis Interna has been found in multiple generations suggesting that the disorder may be inherited as a dominant trait.  It is not known if the disorder is autosomal dominant or X-linked.  There are no known cases of male-to-male (father to son) transmission.", "affected": "Hyperostosis Frontalis Interna affects females 9 times more often than males. This disorder presents itself most often among the middle-aged and elderly but has also been found in adolescents.", "related-disorders": "Symptoms of the following disorders can be similar to those of Hyperostosis Frontalis Interna.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acromegaly is a slowly progressive, chronic metabolic disorder in which an excess of growth hormone causes abnormal enlargement of various tissues of the body and unusual height.  Most conspicuously affected are the extremities, jaws, and face.  The enlargement of soft tissue, especially of the heart, is a serious feature of this disorder.  High blood pressure (hypertension) may be another serious consequence of Acromegaly.  (For more information on this disorder choose Acromegaly as your search term in the Rare Disease Database.)", "therapies": "There is no known treatment for Hyperostosis Frontalis Interna. Seizures and headaches can be treated with standard medications."}
{"OrphaCode": "ORPHA:419", "name_zh": "1型高脯氨酸血症", "Name": "Hyperprolinemia type 1", "disease_name": "Hyperprolinemia Type I", "synonyms": "proline oxidase deficiency", "disease-overview": "", "symptoms": "HPI does not usually cause symptoms, but patients with intellectual disability and/or generalized epilepsy have been reported. A relationship between adult schizophrenia or schizoaffective disorders and HPI has been discussed. Kidney (renal) symptoms have been reported in some affected people. Other symptoms include abnormal EEG readings, generalized low muscle tone (hypotonia), global developmental delay, aggressive behavior, hyperactivity and repetitive movements (stereotypy).", "causes": "Hyperprolinemia has been reported in patients with a microdeletion of the POX (PRODH) gene in the chromosome 22q11 region. Various mutations have been reported. This gene is involved in the initial steps of breaking down proline. The PRODH mutations have been divided into three groups: those leading to mild (<30%); moderate (30–70%); and severe (>70%) reductions of POX enzyme activity. Serum proline level seems to correlate with the severity of POX enzyme deficiency but not to be related with clinical severity.", "affected": "HPI is a very rare disorder that is present at birth. It affects males and females in equal numbers. There appears to be no differences across ethnicities. The prevalence is unknown, but current studies of different populations suggest rates of 1 in 310,000 to 1 in 700,000.", "related-disorders": "Symptoms of the following disorders are similar to those of HPI. Comparisons may be useful for a differential diagnosis.", "diagnosis": "HPI is diagnosed biochemically based on a high plasma proline level without urinary excretion of P5C. In contrast, the presence of P5C in the urine is indicative of HPII.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79101", "name_zh": "高脯氨酸血症2型", "Name": "Hyperprolinemia Type II", "disease_name": "Hyperprolinemia Type II", "synonyms": "Pyrroline Carboxylate Dehydrogenase Deficiency", "disease-overview": "Two types of hyperprolinemia are recognized by physicians and clinical researchers. Each represents an inherited inborn error of metabolism involving the amino acid, proline.", "symptoms": "Hyperprolinemia Type II is characterized by an abnormally high level of the amino acid proline in the blood.  Fevers associated with seizures are common and mild mental retardation may be present.", "causes": "Hyperprolinemia Type II is an autosomal recessive disorder.  The gene involved has been mapped to the short arm of chromosome 1 (1p36).  Chromosomes, which are present in the nucleus of human cells, carry the genetic characteristics of each individual.  Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females.  Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into many bands that are numbered.  For example, chromosome 1p36 refers to band 36 on the short arm of chromosome 1.", "affected": "Hyperprolinemia Type II is a very rare disorder that is present at birth.  It affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorder are similar to those of Hyperprolinemia Type II.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hyperprolinemia Type I is a hereditary condition characterized by an excessive level of proline in the blood.  However, the levels of proline are lower than those in Type II Hyperprolinemia.  This condition is caused by a deficiency of the enzyme proline dehydrogenase.  It may be associated with kidney disease.  (For more information, choose Hyperprolinemia Type I as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:31740", "name_zh": "过敏性肺炎", "Name": "Hypersensitivity pneumonitis", "disease_name": "Hypersensitivity Pneumonitis", "synonyms": "extrinsic allergic alveolitis", "disease-overview": "", "symptoms": "The clinical presentation of a patient with HP varies substantially depending on the type, duration and intensity of the inciting antigen exposure and whether they have lung fibrosis. Symptoms of early non-fibrotic HP may arise several hours after the exposure and consist of a flu-like syndrome with malaise, fever and chills. Respiratory symptoms include non-productive cough and difficulty breathing. Symptoms usually resolve within 24-48 hours but may recur upon re-exposure to the antigen. The presentation of fibrotic HP has a more gradual onset with dry cough, exertional breathlessness and fatigue as the most common symptoms.", "causes": "Hundreds of antigen exposure sources have been implicated in causing HP. These causes of HP are frequently named according to the setting in which the patient was exposed (e.g., humidifier lung, farmer’s lung, mushroom picker’s disease, bird fancier lung). HP antigens can be grouped according to three main categories – microbial, animal proteins and chemical sensitizers. These exposures can take place in residential, occupational, avocational or geographic settings.", "affected": "The prevalence rate for HP in the U.S. is approximately 2 to 3 cases per 100,000 persons. HP is one of the most common diagnoses encountered at interstitial lung disease referral centers worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to HP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "HP is classified based on the presence or absence of radiologic or lung tissue fibrosis, antigen exposure likelihood, and the confidence level of imaging and lung tissue findings by a radiologist and pathologist, respectively. Both lung fibrosis and inciting antigen exposure characterization have implications for diagnosis, prognosis and treatment. The diagnosis of HP requires the exclusion of other conditions and a thorough multidisciplinary evaluation. No single test can confidently establish or exclude a diagnosis of HP. Exposure history, clinical manifestations, and radiological and lung tissue biopsy information must be considered before a diagnosis is made.", "therapies": "All symptoms can usually be resolved in acute cases if they are diagnosed and treated early before permanent changes in the lungs can develop. If permanent lung changes such lung scarring are present at the time of diagnosis, it is possible that the patient may not respond well to treatment."}
{"OrphaCode": "ORPHA:429", "name_zh": "软骨发育不良", "Name": "Hypochondroplasia", "disease_name": "Hypochondroplasia", "synonyms": "HCH", "disease-overview": "Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood. In those with the disorder, bowing of the legs typically develops during early childhood but often improves spontaneously with age. Some affected individuals may also have an abnormally large head (macrocephaly), a relatively prominent forehead, and/or other physical abnormalities associated with the disorder. In addition, in about 10 percent of cases, mild mental retardation may be present.", "symptoms": "Hypochondroplasia is primarily characterized by small stature, disproportionately short arms and legs (limbs), mild to moderate shortness of the fingers and toes (brachydactyly), and broad, short hands and feet (i.e., short-limbed dwarfism).  Slow growth often is not apparent at birth; as noted above, it may not be recognized until about two to three years of age, later during childhood, or as late as adulthood.", "causes": "In some cases, hypochondroplasia appears to occur randomly for unknown reasons (sporadically) with no apparent family history of the disorder.  According to researchers, such cases typically represent new (sporadic) genetic changes (mutations) that may be transmitted as an autosomal dominant trait (i.e., new dominant gene mutations).  Investigators have noted increased age of the father (advanced paternal age) in some instances of apparently sporadic hypochondroplasia.", "affected": "Hypochondroplasia appears to affect females and males in relatively equal numbers.  The features of the disorder were originally reported in 1913; hypochondroplasia was described as a distinct disease entity in 1924.  Over 100 cases have since been recorded in the medical literature, including isolated (sporadic) and familial cases.  Hypochondroplasia is thought to have an incidence of approximately one-twelfth that of achondroplasia.  (Incidence refers to the number of new cases of a particular disorder or condition during a specific period.)  The estimated frequency of achondroplasia has ranged from about one in 15,000 to one in 35,000 births.  (For further information on achondroplasia, please see the Related Disorders section of this report below.)", "related-disorders": "Symptoms of the following disorders may be similar to those of hypochondroplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Achondroplasia is a genetic disorder characterized by short-limbed dwarfism that is apparent at birth.  Although hypochondroplasia has certain similar findings, experts indicate that it may be distinguished from achondroplasia by less severe skeletal malformations of the hands and spine; absence of pelvic involvement; lack of or relatively mild associated abnormalities of the skull and facial (craniofacial) region; and/or other differences as determined by clinical and x-ray (radiographic) evaluation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:238468", "name_zh": "少汗性外胚层发育不良", "Name": "Hypohidrotic ectodermal dysplasia", "disease_name": "Hypohidrotic Ectodermal Dysplasia", "synonyms": "Anhidrotic Ectodermal Dysplasia", "disease-overview": "Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, sweat glands, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating (anhidrosis or hypohidrosis), heat intolerance, and fever; abnormally sparse hair (hypotrichosis), and absence (hypodontia) and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called saddle nose), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigmentation) and finely wrinkled, appearing prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment (hypoplasia) or absence (aplasia) of mucous glands within the respiratory and gastrointestinal (GI) tracts and, in some cases, decreased function of certain components of the immune system (e.g., depressed lymphocyte function, and rarely cellular immune hypofunction), potentially causing an increased susceptibility to certain infections and/or allergic conditions. Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma), respiratory infections; chronic inflammation of the nasal passages (atrophic rhinitis), scaling, itchy (pruritic) skin rashes (eczema), and/or other findings.", "symptoms": "HED is characterized by lack of or diminished sweating (anhidrosis or hypohidrosis), abnormally sparse hair (hypotrichosis), and/or absence (hypodontia) and/or malformation of certain teeth. In addition, affected individuals often have characteristic facial abnormalities, irregularities of the skin, abnormalities of the mucous membranes lining the respiratory and gastrointestinal (GI) tracts, an increased tendency to develop certain infections and allergic conditions, and/or other abnormalities. The range and severity of the symptoms and findings associated with HED varies from case to case.", "causes": "In the majority of reported cases, HED is inherited as an X-linked recessive genetic trait and caused by a mutation of the EDA gene. The protein regulated (encoded) by this gene is a type II membrane protein that acts as a homotrimer (a protein with three identical units of polypeptide) and may be involved in cell-cell signaling during early embryonic development when ectodermal organs are beginning to be formed. The ectodermal germ cell layer normally forms the nervous system, tooth enamel, epidermis of the skin, lining of the mouth, anus, nose, sweat glands, hair, and nails, but a mutated EDA gene will disrupt the normal function of a number of these characteristics.", "affected": "X-linked HED is a rare disorder that is fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygote carriers) may exhibit milder symptoms associated with the disorder. In those rare cases when HED is inherited as an autosomal recessive genetic trait, males and females are affected in equal numbers. Because the vast majority of cases of HED are thought to be X-linked, it is suspected that approximately 90 percent of affected individuals are male.", "related-disorders": "Symptoms of the following disorders may be similar to those of hypohidrotic ectodermal dysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In most cases, HED is diagnosed during early childhood when characteristic dental and hair abnormalities become apparent and prompt further testing. Such diagnosis is based upon a thorough clinical evaluation, identification of characteristic physical findings, a detailed patient and family history, and specialized laboratory testing. In some cases, during the newborn period, heat intolerance, unexplained fevers, and/or extensive skin peeling may lead to an earlier diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:435", "name_zh": "弃用：无色性色素失调症", "Name": "Hypomelanosis of Ito", "disease_name": "Hypomelanosis of Ito", "synonyms": "HMI", "disease-overview": "Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas. In many affected individuals, additional symptoms affecting areas outside of the skin also occur. There are a wide variety of symptoms potentially associated with hypomelanosis of Ito. Neurological findings such as seizures and developmental delays and musculoskeletal symptoms such as abnormal curvature of the spine (scoliosis) are commonly associated with this condition. Because of the neurological and skin symptoms, hypomelanosis of Ito may be referred to as a neurocutaneous syndrome. However, in many patients the condition arises from genetic irregularities that are present in some cells of the body, but not in others (mosaicism). Some researchers believe that hypomelanosis of Ito does not represent a distinct disorder but rather a symptom common to a group of disorders involving genetic mosaicism.", "symptoms": "The most distinctive finding associated with hypomelanosis of Ito is characteristic skin changes. Most affected individuals develop areas that lack skin color (hypopigmentation). Any area of the body may be involved although the scalp, palms and soles are rarely affected. Skin changes may occur as patches, streaks or spiral-shaped (whorled) areas of discoloration and may affect one side of the body (unilateral) or both sides (bilateral). Affected areas of skin are usually normal otherwise. The skin lesions usually appear during the first year of life and remain unchanged through childhood, but may fade or darken in adulthood.  Skin lesions are not associated with inflammation or a premalignant (verrucous) condition.", "causes": "The exact cause of hypomelanosis of Ito is unknown. Many cases are associated with genetic mosaicism and sporadic gene mutations. Genetic mosaicism is the term for individuals who have two distinct cell lines in the body that developed because of a gene mutation that occurred during embryonic development. The two cell lines have differences involving the chromosomes (chromosomal mosaicism).", "affected": "In earlier reports, hypomelanosis of Ito affected women more often than men by a ratio of 2.5:1. More recent, larger studies suggest that the difference may not be as large. The incidence of hypomelanosis of Ito is estimated to be 1 in 8,000-10,000 people in the general population. The symptoms usually become apparent during the first or second year of life. Hypomelanosis of Ito was first described in the medical literature in 1952.", "related-disorders": "Symptoms of the following disorders can be similar to those of hypomelanosis of Ito. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hypomelanosis of Ito is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests such as the finding of chromosomal mosaicism in fibroblasts (the major cell type of the lower layer of the skin) or keratinocytes (the major cell of the outer layer of the skin [epidermis]) obtained from an area of affected (hypopigmented) skin. Computed tomography (CT) scans or magnetic resonance imaging (MRI) may be able to detect structural abnormalities of the brain if neurological abnormalities are present.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2238", "name_zh": "家族性孤立性甲状旁腺功能减退", "Name": "Hypoparathyroidism", "disease_name": "Hypoparathyroidism", "synonyms": "", "disease-overview": "Hypoparathyroidism is a rare condition in which the parathyroid glands fail to produce sufficient amounts of parathyroid hormone or the parathyroid hormone produced lacks biologic activity. The parathyroid glands are part of the endocrine system, the network of glands that secrete hormones into the bloodstream where they travel to various areas of the body. These hormones regulate the chemical processes (metabolism) that influence the function of various organs and activities within the body. Hormones are involved in numerous vital processes including regulating heart rate, body temperature and blood pressure as well as cell differentiation and growth and also in modulation of several metabolic processes. Parathyroid hormone (along with vitamin D and the hormone calcitonin, which is produced by the thyroid gland) plays a role in regulating the levels of calcium and phosphorus in the blood and in determining bone growth and bone cell activity. Due to a deficiency of parathyroid hormone, individuals may exhibit abnormally low levels of calcium in the blood (hypocalcemia) and high levels of phosphorus (hyperphosphatemia). Hypocalcemia can cause a variety of symptoms including weakness, muscle cramps, excessive nervousness, headaches, and/or uncontrollable twitching and cramping spasms of certain muscles such as those of the hands, feet, arms, legs, and/or face (tetany). Numbness and tingling around the mouth and in the fingers and toes can also occur. The most common cause of hypoparathyroidism is damage to or removal of the parathyroid glands due to surgery for another condition. Hypoparathyroidism can also be caused by an autoimmune process or can occur for unknown reasons (idiopathic) or in association with a number of different underlying disorders. In rare cases, hypoparathyroidism may occur as a genetic disorder. Such cases can include familial hypoparathyroidism, which may be inherited as an autosomal recessive, autosomal dominant or X-linked recessive trait. NORD has a separate report on familial isolated hypoparathyroidism.", "symptoms": "The symptoms of hypoparathyroidism occur due to low levels of calcium in the blood. The severity of the condition can range from mild symptoms such as a tingling or numbness in the fingers, toes or around the lips (paresthesias) to severe muscle cramps and muscle spasms. The muscle symptoms are often called tetany, a condition characterized by uncontrollable twitching and cramping spasms of certain muscles such as those of the hands, feet, legs, and arms. In rare cases, seizures or fits can occur, or the level of consciousness can be depressed.", "causes": "Hypoparathyroidism may result from removal of or damage to the parathyroid glands or their blood supply, the absence of or failure to function properly of the parathyroid glands at birth (congenital hypoparathyroidism) or due to or in association with a number of different underlying disorders.", "affected": "Hypoparathyroidism affects males and females in equal numbers. The incidence and prevalence of hypoparathyroidism in the general population are unknown. There are approximately 70,000 people with hypoparathyroidism in the United States.  Hypoparathyroidism can affect individuals of any age.", "related-disorders": "Symptoms of the following disorders can be similar to those of hypoparathyroidism. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hypoparathyroidism is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal abnormal levels of calcium, phosphorus, magnesium, creatinine and intact parathyroid hormone. Urine tests can reveal if the body is excreting too much calcium.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:436", "name_zh": "低磷酸酯酶症", "Name": "Hypophosphatasia", "disease_name": "Hypophosphatasia", "synonyms": "HPP", "disease-overview": "", "symptoms": "HPP has remarkably wide-ranging severity. The six major clinical forms are separated based primarily upon the age when symptoms occur and the diagnosis is made. By decreasing severity, these forms are called perinatal, infantile, childhood (severe or mild), adult, and odontohypophosphatasia.", "causes": "HPP is caused by mutations in the ALPL gene. This is the only gene that causes HPP. Genes provide instructions for making proteins that have an important function in the body. When a mutation occurs, the protein may be faulty, inefficient, or absent, as in HPP. Depending upon the protein’s function, one or more organ systems of the body can be compromised.", "affected": "HPP affects males and females in equal numbers. In Canada, severe HPP is estimated to occur in approximately 1 in 100,000 live births. The overall incidence and prevalence of the various forms of HPP is poorly understood or unknown. Milder cases can go undiagnosed or misdiagnosed. HPP occurs with greatest frequency in the Mennonite population in Canada, is relatively prevalent in Japan, and seems to be rare in individuals with Black ancestry.", "related-disorders": "Other disorders can resemble HPP.  Osteogenesis imperfecta (OI), also called brittle bone disease, is a group of rare disorders that together are more common than HPP. OI features bones that fracture easily from osteoporosis rather than rickets. OI may be mild or severe. As for HPP, the signs and symptoms and physical findings of OI vary greatly from affected person to person, even among individuals in the same family. Four main types of OI have been identified. OI type I is the most common and the mildest form. OI type II is the most severe. Most forms of OI are inherited as an autosomal dominant trait (For more information on this disorder, choose osteogenesis imperfecta as your search term in the Rare Disease Database.)", "diagnosis": "HPP is diagnosed by identifying its symptoms and complications beginning with a detailed patient history. HPP signs are revealed by a thorough clinical examination, and supported by routine x-rays and various laboratory tests including biochemical studies. HPP is often easy for physicians to identify for those familiar or experienced with this disorder. Understandably, however, most physicians have little or no knowledge of HPP. Consequently, affected individuals and families may face a frustrating delay in diagnosis. Now, genetic mutation analysis of the ALPL gene is available from commercial laboratories to support a diagnosis of HPP.", "therapies": "In 2015, the U.S. Food and Drug Administration (FDA) approved asfotase alfa (Strensiq) as the first medical treatment for perinatal, infantile and juvenile-onset HPP. In the US, patients of any age with pediatric-onset HPP are eligible for this bone-targeted TNSALP replacement therapy given by subcutaneous injection."}
{"OrphaCode": "ORPHA:2248", "name_zh": "左心发育不良综合征", "Name": "Hypoplastic Left Heart Syndrome", "disease_name": "Hypoplastic Left Heart Syndrome", "synonyms": "Aortic and Mitral Atresia with Hypoplasic Left Heart Syndrome", "disease-overview": "Hypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The valves allow for blood to be pumped through the chambers. Blood travels from the right ventricle through the pulmonary artery to the lungs where it receives oxygen. The blood returns to the heart through pulmonary veins and enters the left ventricle. The left ventricle sends the now oxygen-filled blood into the main artery of the body (aorta). The aorta sends the blood throughout the body.", "symptoms": "The symptoms of hypoplastic left heart syndrome are directly related to the underdevelopment of the left side of the heart and associated structures.  In all cases, infants have impaired blood flow from the lungs, through the heart, and on to other parts of the body (systemic circulation).  Symptoms may include difficulty breathing (dyspnea), a high-pitched noise while inhaling (rales), and grayish-blue discoloration of the skin (cyanosis) during the first 48 hours of life, which occurs because of low levels of circulating oxygen in the blood.  Impaired blood flow characteristic of hypoplastic left heart syndrome results in fluid buildup in the heart, lung and various body tissues (congestive heart failure).", "causes": "The exact cause of most cases of hypoplastic left heart syndrome is not known. It occurs for no apparent reason (sporadically) in the majority of cases. Research suggests that the interaction of many genes and other environmental factors (multifactorial inheritance) may be responsible for hypoplastic left heart syndrome. In some cases, autosomal dominant and recessive inheritance has been suggested.", "affected": "Hypoplastic left heart syndrome is a rare disorder that affects males (67 percent) more often than females. The estimated prevalence of the disorder is 1 in 100,000 live births. Hypoplastic left heart syndrome accounts for 7-9 percent of all congenital heart defects. The symptoms of this disorder are present at birth (congenital).", "related-disorders": "Symptoms of the following disorders can be similar to those of Hypoplastic Left Heart Syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrioventricular Septal Defect is a rare heart defect that is present at birth (congenital) and is characterized by the improper development of the septa and valves (atrial and ventricular septa and atrioventricular valves). Infants with the complete form of Atrioventricular Septal Defect usually develop congestive heart failure.  Excessive fluid also accumulates in other areas of the body, especially the lungs.  Pulmonary congestion may lead to difficulty breathing (dyspnea).  Other symptoms may include a bluish discoloration of the skin and mucous membranes (cyanosis), poor feeding, abnormally rapid breathing (tachypnea), excessive sweating, and/or an abnormally rapid heartbeat (tachycardia).  (For more information on this disorder, choose Atrioventricular Septal Defect as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:675362", "name_zh": "", "Name": "Hobnail hemangioma", "disease_name": "Hypothalamic Hamartoma", "synonyms": "HH", "disease-overview": "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. They are non-progressive lesions and do not expand, spread or metastasize to other locations. They grow in proportion to normal brain growth, and consequently their relative size to the rest of the brain is the same for the lifetime of the patient. There is tremendous diversity in the type and severity of symptoms from patient to patient. However, symptoms are apparent during childhood in the overwhelming majority of patients. Two clinical phenotypes of HH are recognized: 1) central precocious puberty and 2) epilepsy and related neurobehavioral symptoms.", "symptoms": "Central precocious puberty (CPP) is one of the hallmark clinical syndromes associated with HH. Puberty is abnormally early if it occurs prior to the age of 8 years in girls or 9 years in boys. Central indicates that the disease process responsible for triggering puberty at an abnormally early age involves the brain, with premature pulsatile release of gonadotropin-releasing hormone (GnRH) which in turn signals the ovaries or testes to begin production of sex hormones (estrogen and progesterone in females and testosterone in males).", "causes": "The underlying cause for hypothalamic hamartomas remains unknown. Over 95% of cases are sporadic (that is, there is no prior family history and the identified patient remains the only affected individual in the family). A defect in factors that regulate fetal development of the hypothalamus is most likely.", "affected": "Hypothalamic hamartomas are relatively rare. Population-based research has shown that HH with epilepsy occurs in 1 of 200,000 children and adolescents. The prevalence of HH with only precocious puberty is unknown. At least for HH with epilepsy, males appear to have a slightly higher risk than females (approximately 1.3 to 1 ratio). HH occurs worldwide, without any obvious geographical concentration of cases. It is currently felt that all ethnic groups are at equal risk. There are no identified maternal risk factors or fetal exposures that increase the risk of HH.", "related-disorders": "As malformations of the ventral (inferior) hypothalamus, hypothalamic hamartomas are rather distinct from other conditions. It is important to note that tumors that occur in the same region (such as craniopharyngiomas, astrocytomas, optic nerve gliomas, etc) usually do not cause gelastic seizures. These tumors can, however, be associated with endocrine dysfunction, which includes precocious puberty under rare circumstances.", "diagnosis": "Brain imaging with magnetic resonance (MR) techniques is the single most important diagnostic test. MR imaging is sufficient to establish (or exclude) the diagnosis of HH. However, there are important considerations to imaging for HH. Imaging must be technically adequate to permit detailed visualization of the hypothalamus. Movement artifact resulting from restlessness of the patient within the scanner can obscure small HH lesions. Accordingly, for children or other patients with limited cooperation, a sedated study is recommended. Additionally, the choice of specific MR imaging sequences is also important. A coronal T2 fast spin echo (FSE) sequence is recommended, with thin slices and no gap or space between slices. Lastly, the radiologist should be informed that HH is one of the clinical conditions under consideration, so as to include careful inspection of that region of the brain. Most patients (over 90%) have normal brain findings on MR imaging aside from the HH. A small number of patients may have additional abnormalities, such as malformations of cortical development.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71", "name_zh": "乳糜微粒潴留病", "Name": "I Cell Disease", "disease_name": "I Cell Disease", "synonyms": "GNPTA", "disease-overview": "I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome. The symptoms associated with this disorder typically become obvious during infancy and may include multiple abnormalities of the skull and face and growth delays.", "symptoms": "Some of the physical features associated with I-cell disease (ML II) may be apparent at birth (congenital), whereas other features may become apparent between the ages of 6 to 10 months. Craniofacial abnormalities may include coarse facial features, a depressed nasal bridge, a long and narrow head, an unusually high and narrow forehead, and/or skin folds on the inner corners of the eyes (epicanthal folds). The skin may appear to be unusually thick and tight in certain areas of the body (e.g., face, arms, and legs).  The corneas of the eyes may appear cloudy.", "causes": "I-cell disease (Mucolipidosis II) is caused by a mutation in the GNPTA gene that is located on the long arm of chromosome 4 (4q21-q23).", "affected": "I-Cell Disease is a rare disorder that affects males and females in equal numbers.  Siblings of affected infants have a 1 in 4 chance of being affected by this disorder.  Approximately 30 cases of I-Cell Disease have been reported in the medical literature.  This disease appears to be more common in Japan than in other countries.", "related-disorders": "Symptoms of the following disorders can be similar to those I-cell disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The mucopolysaccharidoses are a group of inherited lysosomal storage disorders characterized by the accumulation of certain complex carbohydrates (mucopolysaccharides) in many tissues and organs of the body (e.g., eyes, skeleton, arteries, joints, ears, skin, and/or teeth). In general, the symptoms of these disorders are progressive and vary greatly depending on the specific enzyme deficiencies. Symptoms of the mucopolysaccharidoses, which generally affect many systems of the body, may include abnormal enlargement of different organs (e.g., liver and spleen), multiple bone deformities (dysostosis multiplex) and/or unusual facial features. (For more information on these disorders, choose mucopolysaccharidoses as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79503", "name_zh": "Curth-Macklin型高起性鱼鳞病", "Name": "Ichthyosis hystrix of Curth-Macklin", "disease_name": "Ichthyosis Hystrix, Curth Macklin Type", "synonyms": "Disorder of Cornification 8, Curth-Macklin Type", "disease-overview": "Ichthyosis hystrix, Curth-Macklin type is a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. The patches of scaly, thickened skin range from spotty to severe, and may appear on almost any part of the body.", "symptoms": "Ichthyosis hystrix, Curth-Macklin type is characterized by patches of abnormally thick, hard skin that may appear almost anywhere on the body.  Some clinicians describe the skin as horn-like. With treatment, the patches may be considerably reduced.  Under examination by electron microscopy, numerous cells (keratinocytes) with two nuclei are found. Frequently, the nuclei are surrounded by shells of a primitive, precursor protein of the skin.", "causes": "The cause of ichthyosis hystrix, Curth Macklin type is a defect in the development of the precursor, structural protein (tonofilaments).  The defect occurs as a result of a change (mutation) in the gene that produces (codes for) these proteins.  The faulty gene has been mapped to chromosome 12q13.", "affected": "Ichthyosis hystrix, Curth Macklin type is a rare disorder present at birth.  It affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of Ichthyosis hystrix, Curth Macklin type.  Comparisons can be useful for a differential diagnosis:", "diagnosis": "Ichthyoses or Disorders of Cornification are general terms describing a group of scaly skin disorders.  They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin.  The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of the skin cells known as corneocytes or of the fat-rich matrix around these cells.  The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together.  (See Ichthyosis in the Rare Disease Database.)", "therapies": "Ichthyosis hystrix, Curth-Macklin type is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder."}
{"OrphaCode": "ORPHA:139", "name_zh": "CHILD综合征", "Name": "Ichthyosis, CHILD Syndrome", "disease_name": "Ichthyosis, CHILD Syndrome", "synonyms": "CHILD Naevus", "disease-overview": "CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.", "symptoms": "CHILD syndrome is usually present at birth.  It may first become apparent at some point during the first month of life.", "causes": "CHILD syndrome is a hereditary disorder transmitted as an X-linked dominant trait.  The faulty gene is on the long arm of the X chromosome (Xq28).  The protein/enzyme product coded by the gene has been identified as NSDHL and governs an essential step in the biosynthesis of cholesterol.", "affected": "Only about 30 cases have been reported in the United States and of these 29 involved infant girls and only 1 involved a boy.   Of these 30 cases, only 6 cases involved organs or systems on the left side of the body.", "related-disorders": "Symptoms of the following disorders may resemble those of CHILD Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Conradi-Hunermann Syndrome is a form of Chondrodysplasia Punctata.  It is a rare inherited disorder affecting infants and young children.  This disorder is characterized by mild to moderate growth deficiencies including a shortened neck and slowed growth of arms or legs.  Unusual facial characteristics, large skin pores and sparse hair that tends to be coarse may also occur.  (For more information, choose Conradi-Hunermann Syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:634", "name_zh": "Netherton综合征", "Name": "Netherton syndrome", "disease_name": "Ichthyosis, Netherton Syndrome", "synonyms": "Comel-Netherton Syndrome", "disease-overview": "Netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema (a skin condition that can result in dry, red and flaky skin), elevated IgE levels, and other related symptoms. Netherton syndrome is inherited as an autosomal recessive trait.", "symptoms": "Newborns with Netherton syndrome have reddened skin (erythroderma) and sometimes a thick parchment-like covering of skin (collodion membrane). The skin is red and scaly all over. Hair shafts are fragile and break easily due to trichorrhexis or bamboo hair, resulting in short sparse hair. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). Another characteristic of Netherton syndrome is a predisposition to allergies, asthma, and eczema.", "causes": "The mutation that causes Netherton syndrome has been pinpointed to the gene SPINK5 located on the long arm (q) of chromosome 5 (5q32). This mutation is transmitted by autosomal recessive inheritance. Individuals must inherit two recessive genes in order to show the disorder, with each parent donating one mutated gene. The parents (carriers) show no evidence of Netherton syndrome.", "affected": "Netherton syndrome is a rare hereditary disorder.  There are approximately 150 cases reported in the medical literature, but the true number of affected individuals may be much higher due to diagnostic difficulties and overlapping symptoms with common atopic dermatitis and other congenital ichthyoses.", "related-disorders": "Symptoms of the following disorders may be similar to those of Netherton syndrome.  Comparisons can be useful for a differential diagnosis.", "diagnosis": "", "therapies": "The treatment of Netherton syndrome is symptomatic, often difficult, and should be tailored to the patient's specific needs. Recommendations include the regular use of emollients and moisturizing creams and lotions. Other topical agents should be used with caution because the skin in Netherton syndrome may allow ingredients from some topically applied medications to be absorbed into the blood, which may pose a danger to the child. Topical keratolytic agents such as urea or lactic acid derivatives may be limited by skin irritation and should generally be reserved for older children. The base line treatment also includes oral antihistamines, which can help to control the itchy, eczematous component, and topical or systemic antibiotics as needed. To treat the scaling of the scalp, mild dandruff shampoos and topical steroids might be helpful. Oral and topical steroids are beneficial in reducing inflammation and the eczematous component of the disease. However, the well-documented side effects of long-term steroid use need to be considered. Oral retinoids have been used with varying success, leading to dramatic improvement in some patients and severe worsening of the disease in others."}
{"OrphaCode": "ORPHA:461", "name_zh": "X连锁隐性遗传鱼鳞病", "Name": "Ichthyosis, X Linked", "disease_name": "Ichthyosis, X Linked", "synonyms": "Placental Steroid Sulfatase Deficiency; STS", "disease-overview": "X-linked ichthyosis is a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. Under normal conditions, this enzyme breaks down (metabolizes) cholesterol sulfate, a member of the chemical family of steroids. Cholesterol sulfate plays a role in maintaining the integrity of the skin. If steroid metabolism is interrupted and cholesterol sulfate accumulates in the skin cells, the skin cells stick together more strongly than usual. The normal shedding of dead skin cells is inhibited and the skin cells build up and clump into scales.", "symptoms": "Boys with X-linked ichthyosis appear normal at birth.  The skin symptoms generally appear within the first year of life.  Brownish scales that adhere to the skin are among the first signs of the disorder.  The back and legs are most frequently involved early.  The face, scalp, palms and soles, and hollows of the elbows and knees are usually spared.", "causes": "X-linked recessive disorders are conditions that are coded on the X chromosome.  Females have two X chromosomes; males have one X chromosome and one Y chromosome.  Therefore, in females, the normal gene on one X chromosome can mask disease traits on the other X chromosome.  Since males have only one X chromosome, if they inherit the gene for a disease present on the X they will express the disease.  Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons.  Women who are carriers of an X-linked disorder have a 50 percent chance of transmitting the carrier condition to their daughters and a 50 percent risk of transmitting the disease to their sons.", "affected": "X-linked ichthyosis is a rare disorder affecting one in 6,000 males.", "related-disorders": "Symptoms of the following disorders may be similar to those of X-linked ichthyosis.  Comparisons can be useful for a differential diagnosis.", "diagnosis": "", "therapies": "X-linked ichthyosis can be diagnosed before birth by amniocentesis or chorionic villus sampling. Low maternal estriol levels can suggest the presence of X-linked ichthyosis."}
{"OrphaCode": "ORPHA:79354", "name_zh": "鱼鳞病", "Name": "Ichthyosis", "disease_name": "Ichthyosis", "synonyms": "Disorders of Cornification", "disease-overview": "Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. The various forms are distinguished from one another by: 1) extent of the scaling and how widely and where the scaling is scattered over the body; 2) the presence or absence and intensity of reddening of the skin (erythroderma); 3) the mode of inheritance; and 4) the character of associated abnormalities.", "symptoms": "Ichthyosis is characterized by scaly and dry skin usually over large areas of the body.  The skin may also itch (pruritis) and be red (erythroderma).  Babies born with some forms of the disorder may be born covered in a parchment-like membrane called a collodion membrane.", "causes": "Most known forms of ichthyosis are hereditary disorders.  Some forms are caused by dominant genes; some are caused by recessive genes.", "affected": "All the ichthyoses are rare disorders.  Incidences vary according to disease type.  The ichthyoses occur in all populations.  Most forms are not bounded by gender, race or ethnicity.", "related-disorders": "Ichthyosis congenita (collodion baby; congenital ichthyosiform erythroderma; xeroderma; desquamation of the newborn) is an inherited skin disorder.  It is characterized by generalized, abnormally red, dry, and rough skin with large coarse and fine white scales.  Itchiness (pruritus) usually also develops.  Skin on the palms of the hands and soles of the feet can be abnormally thick.  (For more information, choose Ichthyosis Congenita as your search term in the Rare Disease Database.)", "diagnosis": "", "therapies": "The dry skin of ichthyosis is treating by applying skin softening emollients. This can be particularly effective after bathing while the skin is still moist. Lotions containing alpha-hydroxy acids, urea, or propylene glycol can also be effective. Skin barrier repair formulas containing ceramides or cholesterol may also improve scaling."}
{"OrphaCode": "ORPHA:238624", "name_zh": "自发性颅内高压", "Name": "Idiopathic intracranial hypertension", "disease_name": "Idiopathic Intracranial Hypertension", "synonyms": "benign intracranial hypertension", "disease-overview": "Intracranial Hypertension (IH) is characterized by increased pressure inside the skull. Intracranial means inside the skull and hypertension means high fluid pressure. Intracranial hypertension means that the pressure of the fluid that surrounds the brain (cerebrospinal fluid or CSF) is too high. Elevated CSF pressure can cause two problems, severe headache and visual loss. If the elevated CSF pressure remains untreated, permanent visual loss or blindness may result. Pseudotumor cerebri and benign intracranial hypertension are both former names for IH, which are now considered inaccurate. These names do not adequately describe the disorder and downplay the seriousness of IH.", "symptoms": "The most common symptom is often an unbearably painful or frequent headache, sometimes associated with nausea and vomiting that is not relieved by medication. The headache often awakens the patient from sleep. Some patients are treated in the emergency room where a lumbar puncture (spinal tap) is done as a last resort, to temporarily ease the headache. Measurement of the opening pressure is encouraged during these procedures in order to assess for intracranial hypertension.", "causes": "In the idiopathic or primary type (IIH), obesity is considered a factor in young women. However, only a small fraction of obese individuals develop IH, so other unknown causes are yet to be determined.", "affected": "The incidence of IIH in the general population is thought to be about 1 per 100,000. In obese young females the incidence of IIH is about 20 per 100,000. IIH occurs in men and children as well, but with substantially lower frequency. Weight is not usually a factor in men and in children under 10 years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of IIH. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Arachnoiditis is a progressive inflammatory disorder affecting the middle membrane surrounding the spinal cord and brain (arachnoid membrane). It may affect both the brain and the spinal cord and may be caused by foreign solutions (such as dye) being injected into the spine or arachnoid membrane. Symptoms may include severe headaches, vision disturbances, dizziness, nausea and/or vomiting. If the spine is involved, pain, unusual sensations, weakness and paralysis can develop.", "therapies": "Treatment should first and foremost involve lifestyle and dietary modifications in order to promote weight loss for those patients who are overweight or obese. This may even include consultation with a nutritionist or dietician."}
{"OrphaCode": "ORPHA:33577", "name_zh": "非化脓性结节性脂膜炎", "Name": "Nodular non-suppurative panniculitis", "disease_name": "Idiopathic Nodular Panniculitis", "synonyms": "nodular nonsuppurative panniculitis", "disease-overview": "", "symptoms": "Idiopathic nodular panniculitis usually begins gradually. Abnormal bumps or masses (nodules) appear in the fatty layer under the skin (subcutaneous fat) of the legs, thighs and buttocks. In some patients, the arms, abdomen, and/or face may be involved. These nodules are usually 1-2 centimeters wide and may be either painful and tender or painless. In some patients, the affected area may become blue and red (erythema), ulcerated (open sore with yellow discharge) and waste away (atrophic), eventually healing and leaving a slight depression after a few weeks.", "causes": "The exact cause of idiopathic nodular panniculitis is unknown. There are numerous different causes that may be associated with the development of panniculitis including Sjogren’s syndrome, inflammatory bowel disease, gout, diabetes mellitus, systemic lupus erythematosus, subacute bacterial endocarditis, tuberculosis, iodide or bromide therapy, withdrawal from large doses of corticosteroids or pancreatitis. Sometimes the cause may be identified as an allergy or possibly a predisposition of fatty tissue to inflammation following cell injury due to an infection or toxin (granulomatous reaction). One hypothesis of the cause of disease is that fat is the trigger of an autoimmune reaction, causing white blood cells to invade the area and cause pathological damage to the subcutaneous fat resulting in the nodules.", "affected": "Idiopathic nodular panniculitis is a rare disorder that may affect males and females of any age group but rarely affects young children. Most cases are young adult females.", "related-disorders": "Symptoms of the following disease may be similar to those of idiopathic nodular panniculitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cytophagic histiocytic panniculitis is a rare disorder affecting the skin and the layers of fatty (adipose) tissue directly under the skin (subcutaneous). The first symptom of this disease is typically the appearance of reddened and tender nodules (lesions) under the skin. In addition, a fever may be present. Most affected individuals have a chronic form of the disease. As the disease progresses, the lesions may increase in size and number and the deeper layers of the skin and other organs of the body (e.g., bone marrow, lymphatic system, etc.) may also be affected. In severely affected patients, blood clotting (coagulation) abnormalities and liver malfunction may also be present. The exact cause of cytophagic histiocytic panniculitis is not known.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2032", "name_zh": "特发性肺纤维化", "Name": "Idiopathic pulmonary fibrosis", "disease_name": "Idiopathic Pulmonary Fibrosis", "synonyms": "cryptogenic fibrosing alveolitis", "disease-overview": "", "symptoms": "In the early stages of IPF no symptoms may be present (asymptomatic). As stated above, the progression of the disorder is highly variable. Some individuals may experience ‘exacerbations’ in which symptoms worsen for a period of time, before improving somewhat. The initial, characteristic symptom is shortness of breath that is particularly noticeable during exertion such as exercise. This is known as breathlessness or dyspnea. Affected individuals may also exhibit a mild, dry cough that produces little to no sputum (nonproductive cough). Sputum is material that is coughed up from the respiratory tract and can include saliva, mucus and phlegm. This persistent, nonproductive cough lasts for more than 30 days.", "causes": "The exact, underlying cause of IPF is not fully understood. The disorder is occurs in families and also sporadically. Different factors, including immunologic, environmental, and genetic ones, are thought to play a role in the development of the disorder.  The strongest risk factor, accounting for 30% of risk of developing IPF, is a variation in the MUC5B gene that results in more mucus production in the smallest airways in the lung (respiratory bronchioles).", "affected": "The exact prevalence and incidence of IPF is unknown. Estimates have ranged from 2-29 people per 100,000 in the general population. This variation may be partially due to the lack of a uniform definition when attempting to identify the disorder. Additionally, many cases of IPF go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. Familial IPF accounts for approximately 5-10% of all cases of IPF. IPF primarily affects older adults. Males tend to be affected more often than females.", "related-disorders": "Symptoms of the following disorders can be similar to those of idiopathic pulmonary fibrosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of idiopathic pulmonary fibrosis may be suspected based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A diagnosis may be confirmed based upon a variety of specialized tests including traditional chest x-rays (radiography), computer tomography (CT) scans, pulmonary function tests, blood tests, and the surgical removal and microscopic examination of lung tissue (lung biopsy).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99931", "name_zh": "特发性肺含铁血黄素沉积", "Name": "Idiopathic Pulmonary Hemosiderosis", "disease_name": "Idiopathic Pulmonary Hemosiderosis", "synonyms": "IPH", "disease-overview": "", "symptoms": "Some patients may not show any symptoms early in the disease, but the most common symptoms include:", "causes": "The cause of IPH is still not known but it is considered to be an autoimmune disease. Many patients also have celiac disease, another autoimmune disease, and the combination of celiac disease and IPH is known as Lane-Hamilton syndrome. In most patients with Lane-Hamilton syndrome, eliminating gluten from the diet also improved the symptoms of IPH. The autoimmune hypothesis theorizes that the cells responsible for providing immunity are somehow responsible for causing bleeding into the lungs and irreversible scarring over time. Although the exact mechanism is unknown, scientists have hypothesized that the offending agents could be bioactive proteins (such as histamine, ECP or VEGF). When triggered by a yet to be discovered antigen(s), the immune cells are inappropriately activated, causing the release of these factors and prompting bleeding in the lungs.", "affected": "Approximately 80% of cases occur in children, mostly under 10 years old and 20% of cases occur in adults (majority under 30 years old). IPH may affect more girls than boys and more adult men than women, according to some studies.", "related-disorders": "The following conditions have signs and symptoms that are similar to IPH: Goodpasture syndrome, acute respiratory distress syndrome (ARDS), lung infections, systemic lupus erythematous, Henoch-Schoenlein purpura, ANCA vasculitis, and mixed connective tissue disease.", "diagnosis": "Since it is a rare disease, diagnosing IPH involves ruling out all other possible causes of bleeding or scarring in the lungs. This may include various blood tests (iron studies, blood cell counts and antibody levels), sputum tests, imaging (x-rays, CT scans), bronchoscopy and biopsies. A multidisciplinary team is often involved and may include pulmonologists, hospitalists, rheumatologists, respiratory therapists, intensivists and thoracic surgeons. Early recognition and treatment can help avoid serious complications and disease progression. IPH is typically diagnosed using a camera (bronchoscope) that takes samples of the fluid in the lungs, known as a bronchoalveolar lavage. The pulmonologist will also take biopsies of the lungs to confirm the diagnosis under the microscope.", "therapies": NaN}
{"OrphaCode": "ORPHA:652681", "name_zh": "", "Name": "Idiopathic subglottic stenosis", "disease_name": "Idiopathic Subglottic Stenosis", "synonyms": "idiopathic subglottic and tracheal stenosis", "disease-overview": "", "symptoms": "Stridor and dyspnea are the most common symptoms. The noisy breathing that characterizes stridor can resemble (and is often mistaken for) wheezing. These symptoms often lead affected individuals to be misdiagnosed with asthma and can result in a delay in diagnosis. Stridor can become progressively worse over time. Shortness of breath upon exertion can also be slowly progressive, worsening over a period of years so that affected individuals are gasping for breath after simple activities or even at rest.", "causes": "By definition, the exact, underlying cause of idiopathic subglottic stenosis is unknown. Inflammation and scarring of the affected area is usually present.", "affected": "Idiopathic subglottic stenosis is a rare disorder that affects women almost exclusively. The disorder most often occurs in women between the ages of 30 and 50, but has been reported in younger women, and elderly adults as well. Idiopathic subglottic stenosis only accounts for approximately 15% of all cases of subglottic stenosis. However, the exact incidence and prevalence is unknown. Because people may go undiagnosed or misdiagnosed, determining the true frequency of idiopathic subglottic stenosis in the general population is difficult.", "related-disorders": "There are a variety of known causes of subglottic stenosis. Most often, this results from prolonged intubation (i.e. having a breathing tube in place for several days), but can result from intubation for only a short period of time as well. Subglottic stenosis also occurs as part of autoimmune disorders such as Wegener’s granulomatosis or relapsing polychondritis. Rarely, some infants are born with the disorder (congenital subglottic stenosis).", "diagnosis": "Diagnosis of idiopathic subglottic stenosis is basically one of exclusion, in which the known causes of subglottic scarring are ruled out. A diagnosis is obtained through identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:34145", "name_zh": "欧洲非罕见病：贝格尔疾病", "Name": "Immunoglobulin A nephropathy", "disease_name": "IgA Nephropathy", "synonyms": "Berger's disease", "disease-overview": "", "symptoms": "Patients with IgA nephropathy often present with:", "causes": "As mentioned above, the kidneys serve as filters for the blood. Each kidney consists of about 1 million mini-filters called nephrons.", "affected": "In North America and Europe, males are two times more likely to get the disease, while in Asia, females are just as likely as males to be affected. In terms of ethnicity, Asians are much more likely than Caucasians who are, in turn, much more likely than black population to get IgA nephropathy. This disease most often presents between teenage years to late 30’s but can present at any age.", "related-disorders": "Symptoms of the following disorders can be similar to those of IgA nephropathy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "•\tHenoch-Schönlein purpura (now considered a type of IgA that predominantly affects the small blood vessels of the body including the kidney) – For more information on this disorder choose Henoch-Schönlein Purpura as your search term in the Rare Disease Database.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:659463", "name_zh": "", "Name": "Imagawa-Matsumoto syndrome", "disease_name": "Imagawa-Matsumoto Syndrome", "synonyms": "IMMAS", "disease-overview": "", "symptoms": "IMMAS is characterized by rapid growth in childhood and early bone maturation, leading to features such as increased height (tall stature), enlarged head circumference and hands and feet that are large for age. Children with IMMAS may have bent fingers or toes  (camptodactyly/clinodactyly) that do not completely straighten. It may also be difficult for affected individuals to extend their knees and elbows. Some patients have very flexible limbs (hypermobility of joints) and some may also develop a curved spine (scoliosis).", "causes": "IMMAS is caused by changes (variants) in the SUZ12 gene. These changes can result in the production of a SUZ12 protein that does not function normally.", "affected": "IMMAS is an extremely rare disorder. As of 2024, there are between 15 and 17 patients reported in the medical literature with IMMAS.", "related-disorders": "Imagawa-Matsumoto syndrome is categorized with diseases known as Weaver-like syndromes. These syndromes are clinically similar to Weaver syndrome. It is also sometimes termed an overgrowth-intellectual disability (OGID) syndrome.", "diagnosis": "IMMAS may be suspected based on a combination of the characteristic clinical features outlined above (e.g., general overgrowth, macrocephaly, increased height, developmental delay, intellectual disability, etc.).", "therapies": "There is currently no cure for IMMAS. Treatment for IMMAS is focused on the individual signs and symptoms in each patient."}
{"OrphaCode": "ORPHA:3002", "name_zh": "免疫性血小板减少症", "Name": "Immune thrombocytopenia", "disease_name": "Immune Thrombocytopenia", "synonyms": "autoimmune thrombocytopenic purpura", "disease-overview": "Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder characterized by abnormally low levels of blood cells called platelets, a situation referred to as thrombocytopenia. Platelets are specialized blood cells that help maintain the integrity of the walls of blood vessels and help prevent and stop bleeding by accelerating clotting where it is needed. A normal platelet count ranges from approximately 150,000 to 400,000 per microliter (µL) of blood depending on the laboratory. However substantial bleeding does not usually occur until the platelet count is less than 50,000 or even 30,000/µl.", "symptoms": "A child or adult may display no symptoms (be asymptomatic) when a low platelet count is first discovered, or bleeding symptoms may appear first and then the platelet count is discovered to be low. Such symptoms may include:", "causes": "The fundamental abnormality in ITP is that the patient’s immune system tags their own platelets as foreign, leading their B-lymphocytes and plasma cells to produce self-reactive anti-platelet antibodies that attach to platelet surfaces. A type of white blood cells in the spleen and in other organs, called macrophages, normally recognize antibody-coated particles. In ITP, antibody-coated platelets are ingested and subsequently destroyed within the macrophages. The bone marrow attempts to compensate but is often unable to keep up with the destruction, especially in severe cases. Platelet production may also be impaired when anti-platelet antibodies bind to the cells in the bone marrow called megakaryocytes that produce platelets. However, ITP is heterogeneous with respect to pathophysiology, clinical symptoms such as risk of bleeding and thrombosis or of fatigue, coincident autoimmune disease, and responses to treatments.", "affected": "ITP occurs in people of all races and ethnicities. ITP can occur at any age from 3 months to over 100 years of age. About 40% of all patients diagnosed with ITP are children younger than 10 years of age. The incidence is highest between 2 to 4 years of age, and males and females are affected equally until adolescence. Between adolescence and the age of 60, ITP is more common in females. The highest prevalence is among males and females over the age of 60.", "related-disorders": "Thrombocytopenia can also be due several other disorders that can resemble ITP in addition to inherited and secondary thrombocytopenia. It is important that physicians develop a differential diagnosis for other possible causes of thrombocytopenia, to consider the full spectrum of what could be underlying the thrombocytopenia. The most likely underlying conditions depend on patient age, sex and many other features of the presentation. Clinical judgment is important since it is not possible to do testing for every other cause of thrombocytopenia.", "diagnosis": "Most patients with ITP present with some form of bleeding, typically in the skin. On occasion, a low platelet count may be detected incidentally by a complete blood count (CBC) ordered for other purposes such as for infection, before surgery or on a routine checkup in an individual without apparent symptoms (asymptomatic). Most ITP patients have isolated thrombocytopenia with normal appearing red cells and white cells, but anemia can result from bleeding and iron deficiency and changes in the white blood cell count can occur with recent infection. If there are lower or higher than normal WBC or RBC counts, the chance this is NOT ITP increases substantially.  Secondary forms of ITP are suspected when an individual has a history of recurrent infections, fever or weight loss, enlarged lymph nodes, joint pains, is post vaccination, etc.", "therapies": "Treatment Overview"}
{"OrphaCode": "ORPHA:97567", "name_zh": "免疫触发性肾小球肾病", "Name": "Immunotactoid glomerulopathy", "disease_name": "Immunotactoid Glomerulopathy ", "synonyms": "glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GIMMD)", "disease-overview": "", "symptoms": "The most common symptoms of immunotactoid glomerulopathy include:", "causes": "The causes of immunotactoid glomerulopathy are still unknown and are being researched. Microtubules build up in the glomerulus, often in patients with an underlying disease such as cancer (particularly leukemia, lymphoma and multiple myeloma) or a previous hepatitis C viral infection.", "affected": "Adults with a history of leukemia, lymphoma, multiple myeloma or another monoclonal gammopathy are most at risk for immunotactoid glomerulopathy. Some evidence also shows an association between a previous hepatitis C viral infection and immunotactoid glomerulopathy. However, many cases have no identifiable underlying disease and the cause is unknown.", "related-disorders": "Fibrillary glomerulonephritis– a similar disease in which fibril proteins affect the glomerulus rather than microtubules and antibodies.", "diagnosis": "A diagnosis is made from a kidney biopsy to look at the microtubules under an electron microscope and immunofluorescence microscope. Routine lab tests may detect the blood and protein in the urine, but a biopsy is the only way to determine which proteins are affecting the glomerulus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:464", "name_zh": "色素失调症", "Name": "Incontinentia pigmenti", "disease_name": "Incontinentia Pigmenti", "synonyms": "Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis", "disease-overview": "", "symptoms": "Skin", "causes": "IP is an X-linked dominant genetic disorder caused by changes (variants or mutations) in the IKBKG gene (formerly called NEMO). IKBKG codes for a protein that helps regulate other proteins that help protect cells from self-destruction in response to specific triggers.", "affected": "IP affects all racial and ethnic groups.  As of 2014 there were more than 2000 female with IP reported in the scientific literature and this number, along with reports of affected males, continues to rise. Current estimates from public health and analytical systems put the birth prevalence at 0.6-2.1/1,000,000.  Orphanet reports an estimated birth prevalence of 1.2/100,000 in the European Union which is likely more accurate. The female:male ratio is 20:1.", "related-disorders": "Mutations in IKBKG can also cause ectodermal dysplasia and Immunodeficiency 1 (OLEDAID). This is an X-linked recessive disorder with variable ectodermal and immunologic features. There is most often reduced sweating (hypohydrosis) or lack of sweating (anhidrosis). There can be abnormal teeth and nails. The infection patterns are of differing severity.", "diagnosis": "Interleukin 1 receptor antagonist deficiency (DIRA) has blistering skin lesions that can be present at birth but does not follow a linear or swirled pattern. The nails can be abnormal, and biopsy of the skin shares some features with the first stage of IP. Patients with DIRA have bone abnormalities, particularly periosteal elevation. Both sexes are equally affected. DIRA has a medical treatment.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2591", "name_zh": "婴儿型肌纤维瘤病", "Name": "Infantile Myofibromatosis", "disease_name": "Infantile Myofibromatosis", "synonyms": "congenital generalized fibromatosis", "disease-overview": "", "symptoms": "More than 90% of cases of juvenile myofibromatosis have onset in infancy, although the disorder can first present later in childhood or less often in adults. The tumors can continue to develop throughout an individual’s life.", "causes": "Most cases of infantile myofibromatosis are believed to occur spontaneously and without a known family history of the disorder. In these cases, the underlying cause of the disorder is unknown. Rare cases of myofibromatosis have been identified that run in families, and mutations in two genes have been identified as causing the disorder in some cases. These genes are the platelet-derived growth factor receptor beta (PDGFRB) gene and the neurogenic locus notch homolog protein 3 (NOTCH3) gene.", "affected": "Infantile myofibromatosis affects males and females in equal numbers. Some reports have noted that males are affected more often by the solitary form and females are affected more often by multicentric forms. The exact incidence is unknown, but is estimated to be between 1 in 150,000 to 400,000 live births, reported in different ethnic and geographical groups. Because cases of this rare condition can go undiagnosed or misdiagnosed, determining the true frequency in the general population is difficult. Although rare, infantile myofibromatosis is the most common fibrous tissue tumor in infancy and early childhood.", "related-disorders": "Symptoms of the following disorders can be similar to those of infantile myofibromatosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of infantile myofibromatosis is based on the microscopic examination of the tissue in a patient with characteristic symptoms and physical examination. Imaging studies including ultrasound and MRI are most often used to visualize the extent of the growths. Imaging techniques may be used to assess the extent of the growths, the progression of the growths, and to diagnose recurrence of a growth. Imaging may be used to help evaluate the size, placement, and extension of lesions and to aid surgical procedures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:570762", "name_zh": "感染性心内膜炎", "Name": "Infective endocarditis", "disease_name": "Infective Endocarditis", "synonyms": "bacterial endocarditis", "disease-overview": "", "symptoms": "Infective endocarditis is an infection of the valves and/or lining of the heart. The presenting symptoms are a low-grade persistent fever without an obvious cause and fatigue and shortness of breath on exertion. Patients also may have joint pain (arthralgia) and muscle pain (myalgia) and their health care provider may hear a new or changing murmur. In addition, the following signs and symptoms occur:", "causes": "Bacteria that cause infective endocarditis reach the heart through the bloodstream. Normally, heart valves are highly resistant to the attachment of bacteria and resulting infection. Damage to the heart valves and inner lining of the heart is the main risk factor for infective endocarditis because it leaves the tissue susceptible to bacterial overgrowth. As the microorganisms quickly move past the damaged valve lining, those strains that can most strongly adhere to the surface are bacteria that have the best chance of producing infective endocarditis. Clumps of bacteria and cells called vegetations form on the heart valves affecting proper function of the heart. If left untreated, this vegetation may cause the valve to leak or may result in an abscess next to the valve or in the heart muscles leading to tissue damage and blockage of the normal electrical conduction pathways. In addition, the vegetation may break loose and cause damage to the brain (stroke), kidneys or lungs.", "affected": "Infective endocarditis appears to be approximately twice as common in men as women. In the past, disease onset occurred at an average age of 35 years of age. However, with more patients having artificial heart valves and pacemakers, the average age at onset has increased to over 50 years. Infective endocarditis has an incidence rate of 3-10 cases in every 100,000 people. No race or ethnicity is more affected than others. Prognosis of infective endocarditis remains poor despite advances in diagnosis and therapies. Mortality rates are approximately 25% even with the best therapies available.", "related-disorders": "", "diagnosis": "The key step in the diagnosis of endocarditis is obtaining blood cultures before antibiotics are started. People with risk factors for endocarditis, particularly those with prosthetic valves and pacemakers, should know the symptoms of endocarditis and should insist on blood culture when they have an unexplained fever. Diagnosis of infective endocarditis can be done based on pathology or by meeting certain clinical diagnostic criteria. These criteria are known as the Duke Clinical Criteria and a patient must show either: 2 major, 1 major and 3 minor, or 5 minor criteria to be diagnosed with infective endocarditis. These include", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:397933", "name_zh": "重度智力障碍-进行性产后小头畸形-中线刻板手部动作综合征", "Name": "IQSEC2-Related Disorder", "disease_name": "IQSEC2-Related Disorder", "synonyms": "IQSEC2-related encephalopathy", "disease-overview": "", "symptoms": "Patients with IQSEC2-related disorder have a range of intellectual disabilities. Some patients can live independently with minimal support, and others require 24-hour care and in-depth support for daily activities. Many are unable to walk independently and have minimal ability to talk or respond to commands.  Most children also have some level of cognitive impairment, such as an inability to name body parts and common objects. Children with ISEC2-related disorder often have autistic features such as difficulty with communication, restricted interests, repetitive behaviors and lack of interest in other children. Associated mental health disorders may develop including anxiety, depression and schizophrenia.", "causes": "IQSEC2-related disorder is a genetic condition caused by variants in the IQSEC2 gene that are not inherited. The variant occurs spontaneously in the affected person (de novo variant). The gene change is not known to be caused by environmental exposures or events during pregnancy.", "affected": "It is estimated that fewer than 1,000 people in the U.S. have this disorder. There have been no studies to identify ethnic groups, regions or environmental factors that influence this disorder. Since IQSEC2-related disorder is an X-linked genetic disorder, more males are affected than females.", "related-disorders": "Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affected. Patients with Rett syndrome have developmental regression, distinctive hand movements, small head circumference, intellectual disability and seizures. Rett syndrome is caused by variants in the MECP2 gene.", "diagnosis": "Physical examination and developmental assessments are not enough to make a diagnosis of IQSEC2-related disorder. If a child has intellectual disability and seizures, consultation with a genetic counselor and DNA testing is warranted. Identification of a pathogenic variant in the IQSEC2 gene confirms the diagnosis.", "therapies": "Patients should see a neurologist and start antiepileptic medication if they have frequent recurrent seizures. It is recommended to continue care with a neurologist to monitor dosage and maintain seizure control, as specific dosage can change over time. Unfortunately, most male children with IQSEC2 gene variants have drug resistant seizures."}
{"OrphaCode": "ORPHA:250923", "name_zh": "孤立性无虹膜畸形", "Name": "Isolated Aniridia", "disease_name": "Isolated Aniridia", "synonyms": "irideremia", "disease-overview": "", "symptoms": "Aniridia is the partial or complete absence of the iris of the eye. Vision is preserved in some patients with mild cases of aniridia. This condition occurs when the iris fails to develop normally before birth in one or both eyes. Typically, aniridia can be diagnosed at birth. Aniridia can be isolated, i.e., occur as a single abnormality or can be one of many symptoms in an underlying condition.", "causes": "Most forms of isolated aniridia are caused by variants in the PAX6 gene. The PAX6 gene belongs to a family of genes that are important for the correct formation of tissues and organs during embryonic development and for maintaining the normal function of certain cells after birth.", "affected": "All types of aniridia affect males and females in equal numbers. This disorder is thought to occur in approximately 1 in 40,000 to 96,000 livebirths in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of aniridia. Comparisons may be useful in helping a doctor make a diagnosis:", "diagnosis": "Irido goniodysgenesis is a genetic eye structure disorder. People with this disorder are born with underdevelopment of the foundation substance (stroma) of the iris. Glaucoma may also occur, followed by the iris changing to a lighter color. It may result in varying degrees of pain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33", "name_zh": "异戊酸血症", "Name": "Isovaleric acidemia", "disease_name": "Isovaleric Acidemia", "synonyms": "isovaleric acid CoA dehydrogenase deficiency", "disease-overview": "", "symptoms": "Isovaleric acidemia is a rare metabolic disorder that ranges in severity from asymptomatic to mild or life-threatening symptoms depending on the mutation and factors predisposing acute attacks. Two major clinical scenarios are often described, an acute form and a chronic intermittent form, but in reality the disease is best thought of as a continuous spectrum from asymptomatic to life threatening. A characteristic ‘sweaty feet’ odor is often present in patient sweat or cerumen due to a buildup of isovaleric acid. Patients may develop aversion early to protein-rich foods.", "causes": "Isovaleric acidemia is a genetic disorder inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.", "affected": "Isovaleric acidemia is a rare disorder that presents either soon after birth or during infancy. It may present up to adolescence. It affects an equal number of males and females. The prevalence of this condition is 1 per 526,000 in Western populations and the incidence is 1 per 250,000 in the US.", "related-disorders": "Organic acidemias are a group of disorders in which there is a genetic mutation in genes for enzyme(s) responsible for breaking down amino acids. There is an accumulation of organic acid metabolites that cause symptoms in a patient. Many organic acidemias present similarly, including during acute attacks, often in the neonatal period. Below are examples of some organic acidemias.", "diagnosis": "In the United States and some developed countries, isovaleric acidemia is routinely identified by newborn screening through a blood test called tandem mass spectrometry, often designated as MS/MS. In other countries, the diagnosis must be suspected clinically before it can be diagnosed. Laboratory studies that can be useful in symptomatic patients include checking for high levels of acid and ketones (ketoacidosis) in blood, high levels of glycine in the blood or urine (hyperglycinemia and hyperglycinuria), high levels of ammonia (hyperammonemia), or low levels of certain white blood cells (neutropenia), platelets (thrombocytopenia) or all blood cell types (pancytopenia). The diagnosis is then confirmed by DNA testing. Less commonly, certain types of cells from the body (white blood cells, skin cells) may be sampled from the patient and tested to confirm decreased or deficient activity of the enzyme isovaleryl-CoA dehydrogenase.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97548", "name_zh": "右侧心房异构", "Name": "Right sided atrial isomerism", "disease_name": "Ivemark Syndrome", "synonyms": "asplenia syndrome", "disease-overview": "Ivemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnormal arrangement of the internal organs of the chest and abdomen. The symptoms of Ivemark syndrome can vary greatly depending upon the specific abnormalities present. Many infants have symptoms associated with abnormalities affecting the heart including bluish discoloration to the skin due to a lack of oxygen in the blood (cyanosis), heart murmurs, and signs of congestive heart failure. Ivemark syndrome often causes life-threatening complications during infancy. The exact cause of Ivemark syndrome is not known.", "symptoms": "The symptoms of Ivemark syndrome are due to the abnormal arrangement and malformation of certain internal organs. The organs of the chest and abdomen normally develop with specific left-right asymmetry, which means that the internal organs on the left side of the body are different than those on the right. In Ivemark syndrome, there are several characteristic findings involving the internal organs of the chest and abdomen including misplacement of the liver near the center of the body, abnormal positioning of the intestines (intestinal malrotation), and severe underdevelopment (hypoplasia) or absence (asplenia) of the spleen. Ivemark syndrome may also be known as right isomerism sequence because the left side of the body is identical to the right. For example, the right and left sides of the heart and lungs, which normally are distinct, may not be clearly defined.", "causes": "The exact cause of Ivemark syndrome is unknown. Most cases seem to occur randomly for no apparent reason (sporadic cases). Researchers believe that multiple factors (e.g., genetic and environmental) play a role in the development of the disorder. Ivemark syndrome has occurred in multiple members of the same family suggesting that an inherited genetic predisposition may have been a factor in the development the disorder in these cases.", "affected": "According to the medical literature, Ivemark syndrome affects boys more often than girls. The exact incidence of Ivemark syndrome is unknown. The incidence of laterality disorders taken together is estimated to be 1 in 15,000 people in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Ivemark syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Ivemark syndrome is made based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic symptoms and a variety of specialized tests. Blood samples may be taken to detect the presence of Howell-Jolly bodies, which are small fragments of DNA found in red blood cells that indicate problems with the function of the spleen (or the lack of a spleen). In addition, a test that uses sound waves to make a picture of the heart (echocardiogram) can confirm the presence and severity of heart defects.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1540", "name_zh": "Jackson-Weiss综合征", "Name": "Jackson-Weiss syndrome", "disease_name": "Jackson-Weiss Syndrome", "synonyms": "craniosynostosis, midfacial hypoplasia and foot abnormalities", "disease-overview": "", "symptoms": "JWS is typically characterized by craniofacial malformations occurring in association with skeletal abnormalities of the feet, but some affected individuals have no craniofacial abnormalities. The range and severity of associated findings may vary greatly among members of the same or other affected families.", "causes": "JWS is caused by variants in the FGFR2 gene. The FGFR2 gene regulates the production of a protein known as a fibroblast growth factor receptor (FGFR). One of the many functions of this protein is to signal immature cells to become bone cells during embryonic development. Gene variants that disrupt the functioning of these proteins may result in certain abnormalities such as premature fusion of the craniofacial area and the limbs.", "affected": "JWS appears to affect males and females in equal numbers. The incidence rate is unknown.", "related-disorders": "Symptoms of the following disorders can be like those of Jackson-Weiss syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Apert syndrome is a rare disorder inherited in an autosomal dominant pattern. This disorder is characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities and intellectual disability. (For more information on this disorder, choose Apert syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33067", "name_zh": "干骺端软骨发育不良，Jansen型", "Name": "Jansen Type Metaphyseal Chondrodysplasia", "disease_name": "Jansen Type Metaphyseal Chondrodysplasia", "synonyms": "Jansen disease", "disease-overview": "Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during early childhood. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals and metatarsals). Infants with Jansen type metaphyseal chondrodysplasia may also have characteristic facial abnormalities and additional skeletal malformations. During childhood, affected individuals may begin to exhibit progressive stiffening and swelling of many joints and/or an unusual waddling gait and squatting stance. In addition, affected adults may eventually develop abnormally hardened (sclerotic) bones especially in the back of the head (cranial bones), which, in some cases, may lead to blindness and/or deafness. In addition, affected individuals have abnormally high levels of calcium in the blood (hypercalcemia). The range and severity of symptoms may vary from person to person. Most cases of Jansen type metaphyseal chondrodysplasia occur randomly as the result of a spontaneous genetic change (i.e., new genetic mutation).", "symptoms": "In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during childhood. Abnormal cartilage development and bone formation may also affect other bones of the body, including those of the hands and feet (i.e., metacarpals and metatarsals). As affected individuals age, abnormal cartilage formations in affected areas may harden into rounded (bulbous) masses of bone, which may become prominent.", "causes": "The gene that is probably involved in most cases of Jansen type metaphyseal chondrodysplasia associated with hypercalcemia is located on the short arm (p) of chromosome 3 (3p21.1-p22). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. In order for researchers to clearly refer to the thousands of genes that may be present on one chromosome, both the long arm and short arm of each chromosome are divided into many bands that are numbered.", "affected": "Jansen type metaphyseal chondrodysplasia is an extremely rare disorder that affects males and females in equal numbers. Approximately 20 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Jansen type metaphyseal chondrodysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hypochondroplasia is a rare inherited skeletal disorder characterized by short stature with abnormally short arms and legs (short-limbed dwarfism) and an unusually long trunk (thorax and abdomen). Major symptoms may include bowing of the legs, abnormally short, broad fingers and toes (brachydactyly), mild limitation of elbow movements, and/or abnormal backward curvature of the spine (lordosis). In addition, affected infants may exhibit abnormalities of the head and face (craniofacial) area including drooping of the upper eyelids (ptosis), an abnormally prominent forehead (frontal bossing), and/or an unusually large head (macrocephaly). Hypochondroplasia is inherited in an autosomal dominant pattern. (For more information on this disorder, choose Hypochondroplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1201", "name_zh": "小肠闭锁", "Name": "Small bowel atresia", "disease_name": "Jejunal Atresia", "synonyms": "", "disease-overview": "Jejunal atresia is a rare type of obstruction of the small bowel affecting newborns. Patients with this disorder are born with a complete mechanical obstruction of the proximal small intestine. The obstruction may be caused by a membrane across the lumen of the bowel (type 1) or a complete gap in the bowel (types 2 and 3). In type 3b, in addition to a gap, the jejunum folds up against one of the arteries that supply blood to distal small bowel and proximal large bowel (the ileo-colic artery and marginal artery) so that the bowel coils up in a manner that looks like an apple peel or Christmas tree. This is sometimes also called maypole bowel or pagoda bowel.", "symptoms": "Jejunal atresia affects the passage of material through the small intestine. Symptoms in individuals with this disorder include poor feeding, vomiting bile, a swollen abdomen, and constipation.", "causes": "Jejunal atresia occurs sporadically for unknown reasons in fetuses that are generally normal in all other respects. The best theory to explain what happens is that the blood flow to a segment of the bowel is cut off with the result that the affected segment disappears leaving a gap in the bowel.", "affected": "Jejunal atresia affects male and female newborns in equal numbers.", "related-disorders": "Symptoms of the following disorder can be similar to those of jejunal atresia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Duodenal atresia is a rare disorder in which there is a blockage of the normal opening in the first division of the small intestine, the duodenum. This malformation causes excessive accumulation of amniotic fluid before birth and vomiting of the neonate immediately after birth. Other symptoms of this disorder may be: a swollen upper abdomen; a yellowish coloring of the skin (jaundice). The obstruction can be repaired with surgery.", "therapies": "Surgery to repair the intestinal obstruction is performed as soon as possible after delivery. A section of the intestine including the atresia will be removed and the two ends will be sewn together. Food is given by a vein but not by mouth (parenteral nutrition) for a period of time before and after surgery until proper function of the intestine is established."}
{"OrphaCode": "ORPHA:90647", "name_zh": "Jervell和Lange-Nielsen综合征", "Name": "Jervell and Lange-Nielsen syndrome", "disease_name": "Jervell and Lange-Nielsen Syndrome", "synonyms": "autosomal recessive long QT syndrome (LQTS)", "disease-overview": "", "symptoms": "Symptoms of JLNS are usually apparent during early childhood. Hearing loss is detected at birth or during early childhood. Hearing loss associated with JLNS is caused by the inability of the auditory nerves to transmit sensory information to the brain (sensorineural hearing loss) and affects both ears (bilateral). In JLNS hearing loss is usually profound, but it tends to affect the hearing of high frequencies more than low frequencies. Low levels of iron and increased levels of gastrin are often present in patients with JLNS, possibly leading to iron deficient anemia.", "causes": "Researchers have determined that most cases of JLNS are caused by disruptions or changes (mutations) of one of two different genes (KCNQ1 or KCNE1). Most of these mutations result in the truncation, or premature shortening of the protein length. This results in a dysfunctional protein. More than 90 percent of cases of JLNS are caused by mutations of the KCNQ1 gene. These two genes produce (encode) proteins essential to the function of the ion channels of the heart and the snail-like tube that forms part of the inner ear (cochlea). Ion channels regulate the movement of electrically charged particles (e.g., potassium and sodium ions) in certain structures of the ear and heart. These ions carry electrical impulses necessary for hearing and the normal function of the heart. Mutations of these genes result in abnormal function of the ion channels and, in turn, affect hearing and the proper function of the heart’s electrical system.", "affected": "JLNS affects males and females in equal numbers, but females seem to have a lower number of life-threatening events. JLNS is generally present in early childhood with a 90% chance of symptomatic problems by the age of 18. The prevalence of the disorder is 1 to 6 people per 1,000,000 live births. The disorder has a higher prevalence in Norway as well as Sweden (both are 1 in 200,000).", "related-disorders": "Symptoms of the following disorders can be similar to those of JLNS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Romano-Ward syndrome (RWS) is a rare genetic heart disorder characterized by abnormalities affecting the electrical system of the heart that result in long QT syndrome. The severity of RWS varies greatly from patient to patient. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. RWS is inherited as an autosomal dominant trait. (For more information on this disorder, choose Romano-Ward as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2315", "name_zh": "Johanson-Blizzard综合征", "Name": "Johanson-Blizzard syndrome", "disease_name": "Johanson-Blizzard Syndrome", "synonyms": "JBS", "disease-overview": "Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial (craniofacial) region including a small beak-shaped nose; and/or varying degrees of intellectual disability. JBS is caused by mutations to the UBR1 gene. This genetic mutation is inherited as an autosomal recessive trait.", "symptoms": "The features and physical findings associated with JBS can vary greatly from one person to another. It is important to note that affected individuals may not have all of the symptoms discussed below. However, pancreatic insufficiency, tooth abnormalities, and a characteristic shape of the nose are found in almost all affected individuals. The severity of JBS can vary as well and some infants may develop life-threatening complications during infancy. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "JBS is caused by mutations of the ubiquitin E3 ligase (UBR1) gene. This genetic mutation is inherited as an autosomal recessive trait.", "affected": "JBS affects males and females in equal numbers. Although the exact incidence is unknown, the frequency has been estimated to be 1 in 250,000 births. More than 60 cases have been described in the medical literature. JBS was first described in the medical literature in 1971 by doctors Johanson and Blizzard. The defective gene was identified by Zenker, et al. in 2006.", "related-disorders": "Symptoms of the following disorders can be similar to those of JBS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of may be suspected based upon identification of characteristic symptoms (e.g., distinctive beak-shaped nose, exocrine pancreatic insufficiency, tooth abnormalities, scalp defects, deafness), a thorough clinical evaluation and a detailed patient history. A diagnosis of JBS can be confirmed through molecular genetic testing, which can identify characteristic mutations of the UBR1 gene that cause the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:475", "name_zh": "Joubert综合征", "Name": "Joubert syndrome", "disease_name": "Joubert Syndrome", "synonyms": "cerebellooculorenal syndrome 1; CORS1", "disease-overview": "", "symptoms": "Many of the clinical symptoms of Joubert syndrome are apparent in infancy and most affected children have delays in gross motor milestones. The most common features are lack of muscle control (ataxia), abnormal breathing patterns (hyperpnea), sleep apnea, abnormal eye and tongue movements and low muscle tone. Intellect ranges from normal to severe intellectual disability. Joubert syndrome is characterized by a specific finding on an MRI called a molar tooth sign in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal.", "causes": "More than thirty genes have been identified that cause Joubert syndrome. The proteins produced from these genes are known or suspected to play roles in cell structures called primary cilia. Primary cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in sensing the physical environment and in chemical signaling. Primary cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Primary cilia are also necessary for the perception of sensory input, which is interpreted by the brain for sight, hearing, and smell.", "affected": "The birth prevalence of JS is estimated to be between 1/80,000 and 1/100,000 live births, but JS may be underdiagnosed and the true prevalence may be higher.", "related-disorders": "Several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome are present in addition to other findings. The term Joubert syndrome and related disorders.was used in the past to describe these conditions. The following conditions were once thought to be distinct syndromes, but are now considered to be part of the spectrum of Joubert syndrome:", "diagnosis": "Dandy-Walker malformation is a rare malformation of the brain that is present at birth (congenital). It is characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain. Excessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus) and neurological impairment. Motor delays and learning problems may also occur. Dandy-Walker malformation is a form of obstructive or internal non-communicating hydrocephalus, meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles. (For more information, choose Dandy Walker as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:228346", "name_zh": "神经元蜡样脂褐质沉积症3型", "Name": "Juvenile CLN3 Disease", "disease_name": "Juvenile CLN3 Disease", "synonyms": "CLN3", "disease-overview": "", "symptoms": "The symptoms of juvenile CLN3 disease usually become apparent between 5 and 15 years of age, usually with visual abnormalities that progresses rapidly. Affected children also suffer from problems with their speech, cognitive decline, behavioral changes, and motor decline.", "causes": "Juvenile CLN3 disease occurs because of disruptions or changes (mutations) of the CLN3 gene located on the short arm (p) of chromosome 16 (16p12.1). The function of the protein encoded by this gene is not yet understood.", "affected": "Juvenile CLN3 disease affects males and females in equal numbers. In the United States, juvenile CLN3 disease along with the other forms of neuronal ceroid lipofuscinoses, occurs in approximately three in 100,000 births. It can occur with greater frequency in families of Northern European Scandinavian ancestry; in particular, those of Swedish heritage. It is thought to occur in one in 25,000 infants in northern Europe. Juvenile CLN3 disease is one of the most common neurodegenerative disorders affecting children.", "related-disorders": "Symptoms of the following disorders can be similar to those of juvenile CLN3 disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of juvenile CLN3 disease may be made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic physical findings, and a variety of specialized tests including the microscopic examination (i.e., electron microscopy) and study of the chemical components (histochemical examination) of samples of tissue (biopsy), usually from the skin. The study of such tissue samples reveals abnormal accumulations of deposits (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) in membrane-bound cavities within the body (cytoplasm) of cells (inclusion bodies). In juvenile CLN3 disease these have a characteristic appearance rather like fingerprints. Similar deposits may also be present in other tissues and cells of the body (e.g., certain white blood cells [lymphocytes].", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79230", "name_zh": "血色素沉着病2型", "Name": "HJV or HAMP-related hemochromatosis", "disease_name": "Juvenile Hemochromatosis", "synonyms": "hereditary hemochromatosis type 2", "disease-overview": "Juvenile hemochromatosis is a rare genetic disorder characterized by the accumulation of iron in various organs of the body. Symptoms usually become apparent before the age of 30, though they may appear at a later age in some individuals. The specific symptoms and severity of juvenile hemochromatosis vary from one person to another. Common symptoms include absent or decreased function of the testes in males or ovaries in females (hypogonadotropic hypogonadism), heart (cardiac) disease, scarring of the liver (cirrhosis), joint disease, diabetes and dark discoloration of patches of skin (hyperpigmentation). If untreated, juvenile hemochromatosis can potentially cause life-threatening complications. Juvenile hemochromatosis is caused by mutations in one of two genes (HJV and HAMP). Juvenile hemochromatosis is inherited in an autosomal recessive manner.", "symptoms": "The symptoms and severity of juvenile hemochromatosis can vary from one person to another, even within the same family. Major symptoms include hypogonadotropic hypogonadism and heart, liver and joint disease. In some patients, nonspecific, vague symptoms may precede the development of more serious complications. These earlier symptoms may include fatigue, joint pain (arthralgia) and lack of appetite. If left untreated, juvenile hemochromatosis can cause serious, life-threatening complications.", "causes": "Juvenile hemochromatosis is a genetic condition inherited in an autosomal recessive manner. Juvenile hemochromatosis is caused by mutations in HJV and HAMP. Individuals have two copies of the HJV gene and the HAMP gene, one copy from the sperm and one copy from the egg. Juvenile hemochromatosis type 2A occurs when a child inherits two altered (or mutated) copies of HJV, and therefore has no normal copy of the gene. Juvenile hemochromatosis type 2A is more common, accounting for 90 percent of known cases of juvenile hemochromatosis. Juvenile hemochromatosis type 2B occurs when a child has two altered copies of HAMP.", "affected": "Juvenile hemochromatosis affects males and females in equal numbers. The disorder is rare, but the actual incidence in the general population is unknown. Juvenile hemochromatosis has been reported worldwide. The disorder typically becomes apparent between 10-30 years of age. Mutations of the HJV gene account for the majority (~90%) of cases of juvenile hemochromatosis.", "related-disorders": "There are several conditions with overlapping laboratory findings or symptoms of juvenile hemochromatosis. These conditions are primary disorders of iron overload, a group of disorders characterized by iron accumulation in the body. Symptoms common among primary disorders of iron overload include fatigue, abdominal pain, lack of sex drive, joint pain and heart abnormalities, though the specific symptoms related to these disorders can vary depending upon the location and extent of iron accumulation. Besides juvenile hemochromatosis, primary disorders of iron overload include atransferrinemia, African iron overload disease, HFE-related hemochromatosis (classic hereditary hemochromatosis), TFR2-related hereditary hemochromatosis and ferroportin disease. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "diagnosis": "Early diagnosis and prompt treatment of juvenile hemochromatosis are essential and may help to prevent permanent organ damage and potentially life-threatening complications resulting from excessive iron storage. The disorder may be diagnosed based upon a thorough clinical evaluation; detection of certain physical findings (including hepatomegaly, diabetes mellitus, abnormal skin pigmentation, heart disease, hypogonadism, and/or arthritis), a thorough patient history; a complete family history and specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:86834", "name_zh": "青少年型骨髓单核细胞白血病", "Name": "Juvenile myelomonocytic leukemia", "disease_name": "Juvenile Myelomonocytic Leukemia", "synonyms": "chronic myelomonocytic leukemia of infancy", "disease-overview": "", "symptoms": "Although the symptoms below are common to JMML, affected children can potentially exhibit these symptoms in any combination. Among individual cases, the specific symptoms and signs can vary. Symptoms can develop over a period of weeks or months.", "causes": "The exact underlying cause of JMML is unknown. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "JMML accounts for ~ 2-3% of all childhood leukemias. The mean age at diagnosis is 2. Males are affected more often than females by a ratio of approximately 2:1. Studies conducted in Denmark and British Columbia placed the incidence at 1.2 cases per million in children each year. In the UK, a study found a lower incidence rate of 0.6 per million. Childhood leukemia as a whole is estimated to affect approximately 4,000 children each year in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of JMML. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of JMML is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis of JMML is usually considered after other conditions have been ruled out.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:673580", "name_zh": "", "Name": "Classic pilocytic astrocytoma", "disease_name": "Juvenile Pilocytic Astrocytoma", "synonyms": "Astrocytoma Grade I", "disease-overview": "Juvenile pilocytic astrocytoma (JPA) is a rare childhood brain tumor. In most cases, the tumor is a benign, slow growing tumor that usually does not spread to surrounding brain tissue. Symptoms of a JPA will vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems and vision abnormalities.", "symptoms": "The symptoms associated with juvenile pilocytic astrocytomas vary depending upon the size and location of the tumor. A JPA can develop anywhere with the central nervous system (i.e., brain and spinal cord). Most cases arise in the lower area of brain near the back of the neck that controls movement and balance (cerebellum), the brainstem, the hypothalamic region or the optic nerve pathways.", "causes": "The exact cause of juvenile pilocytic astrocytomas is unknown. Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation), diet, stress, and/or other factors may play contributing roles in causing specific types of cancer. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "Juvenile pilocytic astrocytomas affect males and females in equal numbers. Most JPAs develop within the first two decades of life. JPAs are the most common cerebellar tumor in children. Astrocytomas as a whole are the most common brain tumor of childhood accounting for more than half of all primary childhood tumors of the central nervous system. The incidence rate is estimated at 14 new cases per million in children younger than 15 years of age. Most astrocytomas (approximately 80 percent) in children are low grade.", "related-disorders": "Symptoms of the following disorders can be similar to those of a juvenile pilocytic astrocytoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of juvenile pilocytic astrocytoma is made based upon a thorough clinical evaluation and a variety of specialized test, including various imaging techniques. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues such as the brain. CT scanning and MRIs may also be to help evaluate the size, placement, and extension of the tumor and to serve as an aid for future surgical procedures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2322", "name_zh": "歌舞伎综合征", "Name": "Kabuki syndrome", "disease_name": "Kabuki Syndrome", "synonyms": "Kabuki makeup syndrome", "disease-overview": "", "symptoms": "Some features of Kabuki syndrome are present at birth (congenital). Other features become apparent as an affected child ages. The specific findings and the severity of those findings can vary from one person to another. A wide variety of findings affecting multiple organ systems of the body can potentially occur. It is important to note that affected individuals may not have all the features discussed below. Parents of an affected child should talk to their physician and medical team about their child’s specific case, associated features and overall prognosis.", "causes": "In August of 2010, a group of researchers at the University of Washington reported that pathogenic variants in the gene KMT2D (formerly MLL2) were responsible for Kabuki syndrome in most affected individuals who were tested. In 2012, a group of researchers from Belgium identified a second gene, termed KDM6A, that causes Kabuki syndrome. Most cases of Kabuki syndrome, particularly those caused by variants of KMT2D, occur for the first time in the affected individual with no family history of the disorder (de novo). However, familial occurrence of Kabuki syndrome has been reported.", "affected": "Kabuki syndrome affects males and females in equal numbers. The incidence of Kabuki syndrome is unknown but has been estimated to be somewhere between 1 in 32,000-86,000 individuals in the general population. More than 400 affected individuals who have genetically proven Kabuki syndrome have been reported in the medical literature. Although the disorder was first reported in Japan, Kabuki syndrome has since been reported in a wide variety of different ethnic groups.", "related-disorders": "Features of the following disorders can be similar to those of Kabuki syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "International consensus diagnostic criteria for Kabuki syndrome have been published, which allow for a diagnosis to be made when a person has either a positive genetic testing result or a combination of certain clinical features.", "therapies": NaN}
{"OrphaCode": "ORPHA:478", "name_zh": "Kallmann综合征", "Name": "Kallmann syndrome", "disease_name": "Kallmann Syndrome", "synonyms": "idiopathic hypogonadotropic hypogonadism with anosmia", "disease-overview": "Kallmann syndrome (KS) is a rare genetic disorder in humans that is defined by a delay/absence of signs of puberty along with an absent/impaired sense of smell. A closely related disorder, normosmic idiopathic hypogonadotropic hypogonadism (nIHH), refers to patients with pubertal failure but with a normal sense of smell. Both KS and nIHH are due to an isolated deficiency of a key reproductive hormone called gonadotropin-releasing hormone (GnRH). KS and nIHH occurs in both sexes but males are more commonly diagnosed with this condition.", "symptoms": "The clinical hallmark of IGD is the failure of onset of puberty. This lack of pubertal maturation, i.e. hypogonadism, occurs in both sexes and is characterized by reduced blood levels of the sex hormone levels (testosterone and estrogen) as well as gonadotropins (LH and FSH) and infertility. In boys, the onset of normal pubertal development is heralded by testicular enlargement that is then followed by penile growth and the appearance of pubic hair. Affected men complain of absence of secondary sexual characteristics (facial hair growth, body hair growth, decreased pubic hair growth and genital enlargement) and a delayed growth spurt in comparison to their peers. In addition, an absence of sexual interest (libido) and poor sexual function (inability to attain or sustain an erection) may also be present. Unusual growth of breasts may also be rarely seen in these subjects although this more typically occurs during treatment of this condition and is often transient (see below).", "causes": "IGD is caused by mutations in a number of different genes and to-date, ~50% of patients have a demonstrable genetic mutation that is identifiable. While some genes primarily cause the KS form of IGD, others cause nIHH only, and some can cause both forms of this disorder. Mutations in genes that are thought to disrupt the development and migration of GnRH neurons from the olfactory epithelium to hypothalamus result in the KS phenotype. These include: KAL1, NELF, FGFR1, FGF8, PROK2, PROKR2, HS6ST1, CHD7, WDR11 and SEMA3A. Genes that primarily interfere with the normal secretion of GnRH (GNRH1, KISS1, KISS1R (GPR54), TAC3, TACR3) or its action on the pituitary (GNRHR) cause nIHH. The overlap genes ie. the ones that cause both KS and nIHH include FGFR1, FGF8, PROK2, PROKR2, HS6ST1, CHD7, WDR11 and SEMA3A. Presumably, these genes may have multiple roles in GnRH biology including both migration and their normal secretory function.", "affected": "Both KS and nIHH are relatively rare, can affect both males and females, with a clear male predominance (~4:1). According to a recent retrospective study, to identify all diagnosed KS cases throughout Finland born during a defined time period, the minimal incidence of KS in Finland was approximately 1 in 48,000 newborns. There was a clear difference in estimates between boys (1 in 30,000) and girls (1 in 125,000). The reason for this sex ratio relates in part to the genetics and in part due to a bias of ascertainment wherein males with delayed puberty tend to seek care more frequently than do their female counterparts. A precise estimate of prevalence remains a challenge as there may be differences in different populations.", "related-disorders": "Occasionally, GnRH deficiency may present as adult-onset GnRH deficiency, wherein there is a history of an age-appropriate normal puberty followed by decrease in libido and fertility in adult life. These patients have usually normal testicular size and historical or physical evidence of normal spontaneous maturation, with documented fertility in several cases.", "diagnosis": "The diagnosis of Kallmann syndrome is based on the clinical evidence of arrested sexual maturation or hypogonadism and the incomplete sexual maturation by Tanner staging on physical examination. Tanner staging is an established way used during the physical examination by endocrinologists and pediatric endocrinologists worldwide to evaluate the maturation of the primary and secondary sexual characteristics:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2330", "name_zh": "卡梅综合征", "Name": "Kasabach-Merritt phenomenon", "disease_name": "Kasabach-Merritt Phenomenon", "synonyms": "KMP", "disease-overview": "Kasabach-Merritt phenomenon (KMP) is a rare condition that is associated with two rare vascular tumors: kaposiform hemangioendothelioma (KHE) and tufted angioma (TA). It is characterized by a coagulopathy with features including profound low platelets (thrombocytopenia), low fibrinogen (hypofibrinogenemia) and low level of red blood cells (anemia). The rare vascular tumors associated with this phenomenon usually occur in infants and young children and can be life-threatening secondary to the risk of bleeding and organ dysfunction.", "symptoms": "Initially a vascular lesion is usually noted on the skin which can be firm and  hard (indurated). Areas of tiny red dots (petechiae) can appear around the lesion or on other parts of the body. If the vascular lesion is internal, these petechiae and bruising can be seen on the skin. Bruising and spontaneous bleeding can also occur. The tumors are not hemangiomas. They usually present in young infants, less than three months of age, but have also been reported in the toddler age group. These tumors occur in the extremities, chest, neck, abdomen and pelvis. They infiltrate across tissue and can be aggravated by interventions, infection and trauma. When the tumors associated with KMP are internal such as in the chest or abdomen, they can cause significant illness and can be life-threatening due to bleeding. Internal lesions can take a longer time to diagnose.", "causes": "The cause of KMP is unknown. It is believed to be secondary to sequestration or trapping of platelets and proteins into the tumor. These tumors are made up of abnormal endothelial cells (spindle cells) and abnormal lymphatic tissue. It is unclear why the KMP occurs and if it is caused by the spindle cells or the lymphatic component. A cause for the tumor (KHE and or TA) is also unknown but possibly secondary to a change in a gene in the tissue involved (somatic gene mutation).", "affected": "KMP is a rare disorder that affects males and females equally. The diagnosis is most often made during infancy. The pnenomenon occurs much less often in older children. KHE and TA tumors can occur without KMP. The reason for this is still unknown and may be secondary to a smaller size of the tumor, an older age at presentation or other clinical features.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kasabach-Merritt phenomenon. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Vascular Malformations", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:457193", "name_zh": "常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征", "Name": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "disease_name": "KAT6A Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about KAT6A syndrome is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of additional genes, environmental factors, or other factors influencing the disorder have prevented physicians and researchers from developing a complete picture of associated symptoms and prognosis.", "causes": "KAT6A syndrome is caused by a variation (mutation) in the KAT6A gene. This gene is also known as the MOZ or MYST3 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain.", "affected": "KAT6A syndrome is believed to affect females and males in equal numbers. The exact number of people who have this disorder is unknown. According to the KAT6 Foundation, as of December 2022, there are 350 individuals known to have the disorder. Rare disorders like KAT6A syndrome often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. KAT6A syndrome is often underdiagnosed, and a 2015 report suggests that the disorder may account for as much as 1% of undiagnosed individuals with syndromic developmental delay.", "related-disorders": "Symptoms of the following disorders can be similar to those of KAT6A syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of KAT6A syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. There are no formal diagnostic criteria established for this disorder. A diagnosis is confirmed through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:457193", "name_zh": "常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征", "Name": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome", "disease_name": "KAT6B-Related Disorders", "synonyms": "KAT6B syndrome", "disease-overview": "", "symptoms": "Variants in the KAT6B gene can lead to a broad spectrum of signs and symptoms. On either side of the spectrum are some clinical features that are associated more often with either genitopatellar syndrome (GPS) or a type of Ohdo syndrome called Say-Barber-Biesecker-Young-Simpson (SBBYS). But individuals affected by KAT6B-related disorders frequently have intermediate clinical features that are a mixture or overlap between these two syndromes. Some individuals have clinical features that do not overlap with either syndrome at all.", "causes": "KAT6B-related disorders are caused by a pathogenic variant (mutation) in the KAT6B gene. This gene is also known as the MORF or MYST4 gene. Genes provide instructions for creating (encoding) proteins that play a critical role in many functions of the body. When a variant occurs, the protein that is created may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the protein, this can affect many parts of the body.", "affected": "KAT6B-related disorders affect females and males in equal numbers. The exact number of people who have this disorder is unknown. According to the KAT6 Foundation, as of February 2023, there are 150 individuals around the world known to have a KAT6B gene variant. Rare disorders like KAT6B-related disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population but it is estimated that fewer than one in a million individuals may be affected.", "related-disorders": "Clinical features of the following disorders can be similar to those of KAT6B-related disorders. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a KAT6B-related disorder is based upon identification of characteristic clinical features, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. No formal diagnostic criteria have been established for KAT6B-related disorders, even if clinical features cause suspicion that an individual may have GPS or SBBYS. A diagnosis can only be confirmed through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2331", "name_zh": "川崎病", "Name": "Kawasaki disease", "disease_name": "Kawasaki Disease", "synonyms": "Kawasaki Syndrome", "disease-overview": "Kawasaki disease is an acute multisystem inflammatory disease of blood vessels (vasculitis) that most commonly affects infants and young children. The disease may be characterized by a high fever, inflammation of the mucous membranes of the mouth and throat, a reddish skin rash, and swelling of lymph nodes (lymphadenopathy). In addition, individuals with Kawasaki disease may develop inflammation of arteries that transport blood to heart muscle (coronary arteritis), associated widening or bulging (aneurysms) of the walls of affected coronary arteries, inflammation of heart muscle (myocarditis), and/or other symptoms and findings. Kawasaki disease is the primary cause of acquired heart disease in children in the United States. Although the cause of the disease is unknown, it is widely thought to be due to infection or an abnormal immune response to infection.", "symptoms": "In many affected children, the initial symptom associated with Kawasaki disease is a high fever that typically rises and falls (remittent fever) and lasts for approximately one to two weeks without treatment.  In some cases, fever may persist for up to about three to four weeks.  Additional characteristic features include inflammation of the whites of the eyes (bilateral conjunctivitis); inflammation of mucous membranes of the mouth and throat, resulting in dry, red, cracked lips and a strawberry-red tongue; swelling of lymph nodes in the neck (cervical lymphadenopathy); redness and swelling of the hands and feet; and a reddish rash, typically affecting the trunk and often involving the groin area.  By about the second or third week, skin tissue may peel (desquamate) from the tips of the fingers and toes and may progress to involve the hands and feet.", "causes": "Although the exact cause of Kawasaki disease is not known, evidence indicates an infection or an inappropriate immune response to infection.  However, despite much research in this area, a specific infectious cause has not been identified.", "affected": "Kawasaki disease most frequently affects children five years of age or younger. In extremely rare cases, Kawasaki disease may occur during adolescence or adulthood. First reported in Japanese children in the 1960s, the disease is now recognized worldwide and occurs in individuals in all racial and ethnic groups. However, Kawasaki disease appears to affect Asian children most frequently. Estimates indicate that at least 3,000 cases of Kawasaki disease are diagnosed each year in the United States.  Males appear to be affected more frequently than females by a ratio of approximately 1.5 to 1.", "related-disorders": "Symptoms of the following disorders may be similar to those of Kawasaki disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Measles is a highly contagious viral disease occurring primarily in children.  Symptoms may include fever, cough, sore throat, runny nose, redness of the eyes (conjunctivitis), and increased sensitivity to light (photophobia).  Small red spots with bluish or whitish centers may appear on the inner cheeks (Koplik’s spots).  In addition, a characteristic red skin rash develops.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2332", "name_zh": "KBG综合征", "Name": "KBG syndrome", "disease_name": "KBG Syndrome", "synonyms": "short stature, facial/skeletal anomalies-retardation-macrodontia", "disease-overview": "KBG syndrome (KBGS) is a rare genetic disorder characterized by large front teeth (macrodontia), characteristic facial features, short to normal stature, developmental delay or intellectual disability (the level of intellectual disability is usually mild, and there are also people with KBGS who have a normal development). Behavioral issues are common. People with KBGS can have skeletal abnormalities (such as short fingers, delayed closure of the fontanelle or scoliosis), hearing loss and feeding difficulties (particularly in infancy), and some have epilepsy (seizures) or brain malformations.  The specific symptoms may vary from one person to another. KBG syndrome is caused by a change (variant or mutation) in the ANKRD11 gene or a loss of genetic material (microdeletion) on chromosome 16q that involves the ANKRD11 gene. Variants of this gene can occur spontaneously with no family history or be inherited in an autosomal dominant manner. KBG syndrome is named after the initials of the last names of the first three families identified with this disorder in the medical literature in 1975.", "symptoms": "Children with KBG syndrome may display characteristic physical abnormalities of the head and face (craniofacial dysmorphism). The shape of the skull can be abnormal, with a flat back of the head (brachycephaly). Characteristic facial features may include eyes that appear widely spaced apart (hypertelorism) or crossed (strabismus); wide, bushy eyebrows; thin, bow-shaped lips; prominent ears; and/or a triangularly shaped face. There is typically a full tip of the nose with upturned nostrils. Characteristic features may also include large teeth (macrodontia). Macrodontia is particularly common in KBG syndrome and often affects the two upper middle teeth (upper central incisors) and sometimes other teeth as well. Affected individuals may also have jagged, crowded or misaligned teeth and/or unusually short, flattened, supporting bones or sockets of the jaw (mandible) that house the teeth (alveolar ridges). Microcephaly has been described in some children. Microcephaly is a condition in which the circumference of the head is smaller than would be otherwise expected based on age and gender. However, most children with KBG syndrome have a normal head size.", "causes": "KBG syndrome is caused by either an alteration (variant or mutation) in the ANKRD11 gene or a loss of genetic material from chromosome 16q that includes the ANKRD11 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "KBG syndrome is a rare disorder that affects males and females. Currently, more than 150 cases have been reported in the medical literature. The actual number of patients worldwide is much higher. The disorder can go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of KBG syndrome in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of KBG syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth delay); characteristic differences of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe intellectual disability. Many infants and children with the disorder have an unusually small, short head (microbrachycephaly); a prominent vertical groove between the upper lip and nose (philtrum); a depressed nasal bridge; upturned nostrils (anteverted nares); and a protruding upper jaw (maxillary prognathism) with small chin (micrognathia). Additional characteristic facial abnormalities may include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the forehead and the back of the neck; and curly, unusually long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, and webbing (syndactyly) of certain toes. Less commonly, there may be absence of the forearms, hands, and fingers. Infants with CdLS may also have feeding and breathing difficulties; an increased susceptibility to respiratory infections; a low-pitched growling cry and low voice; heart defects; delayed skeletal maturation; hearing loss; or other physical abnormalities. The range and severity of associated symptoms and findings may be extremely variable from person to person. (For more information, choose Cornelia de Lange as your search term in the Rare Disease Database).", "therapies": "Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedists, orthopedic surgeons, (pediatric) neurologists, physical therapists, speech therapists, orthodontists or dentists and other healthcare professionals may need to plan an affected child’s treatment systematically and comprehensively."}
{"OrphaCode": "ORPHA:166108", "name_zh": "Birk-Barel 型智力障碍", "Name": "KCNK9 Imprinting Syndrome", "disease_name": "KCNK9 Imprinting Syndrome", "synonyms": "Birk-Barel syndrome", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and other factors prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below or may have symptoms that are not discussed. Every case is unique and the disorder can be different in one child when compared to another.", "causes": "KCNK9 imprinting syndrome is caused by an alteration in the maternal copy of the KCNK9 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "KCNK9 imprinting syndrome is an extremely rare disorder that has been described in only several families worldwide. The incidence and prevalence of the disorder is unknown. It is likely that people with this disorder go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of KCNK9 imprinting syndrome in the general population.", "related-disorders": "", "diagnosis": "A diagnosis of KCNK9 imprinting syndrome is almost always made through molecular testing and confirmed by identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation with specialized tests to rule out other causes of congenital hypotonia. Molecular genetic testing looks for changes (mutations) in the KCNK9 gene known to cause the disorder, but is available only as a diagnostic service at specialized laboratories. Most cases are diagnosed by whole exome sequencing, when a specific amino acid change (p.G236R) is detected in the KCNK9 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:439218", "name_zh": "KCNQ2相关的癫痫性脑病", "Name": "KCNQ2 Developmental and Epileptic Encephalopathy", "disease_name": "KCNQ2 Developmental and Epileptic Encephalopathy", "synonyms": "KCNQ2E", "disease-overview": "", "symptoms": "", "causes": "The gene that is altered in patients with KCNQ2-DEE is the gene for a potassium channel within the brain.", "affected": "Epilepsy is estimated to affect 1 in 26 people during their lifetime with an incidence of approximately 44/100,000 people. The incidence is highest in young children and older adults with children often having the most severe types of epilepsies. The incidence of epilepsy in children under 2 years of age is estimated to be 70.1 per 100,000 based on a recent population-based study conducted in North London. In this research, severe epilepsies associated with abnormal development and EEG (epileptic encephalopathies) were identified in 22 (39%) of 57 infants and were associated with several genetic causes.", "related-disorders": "Symptoms of the following disorders can be similar to those of KCNQ2E. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Epilepsy is a group of neurological disorders characterized by abnormal electrical discharges in the brain. It is characterized by loss of consciousness, convulsions, spasms, sensory confusion and disturbances in the autonomic nervous system. There are many different types of epilepsy and seizures, and the exact cause is frequently unknown. Epilepsy can also occur as part of larger genetic syndromes. Types of epilepsy or disorders associated with epilepsy include Rett syndrome, Angleman syndrome, Dravet syndrome and West syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:480", "name_zh": "Kearns-Sayre综合征", "Name": "Kearns Sayre Syndrome", "disease_name": "Kearns Sayre Syndrome", "synonyms": "chronic progressive external ophthalmoplegia and myopathy", "disease-overview": "Kearns-Sayre syndrome (KSS) is a rare multisystemic disorder. An important clinical symptomatic feature is the presence of droopy eyelids (ptosis) in one or both eyes. This disease is mostly characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), or pigmentary retinopathy, leading to poor night vision and progressive vision loss; and heart disease such as cardiomyopathy and/or progressive arrhythmia leading to complete heart block. Other findings may include muscle weakness, short stature, sensorineural hearing loss, endocrine issues such as diabetes mellitus and hypoparathyroidism (which can cause hypocalcemia) and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some patients, KSS may be associated with other disorders and/or conditions.", "symptoms": "The three primary findings in KSS are progressive paralysis of certain eye muscles including the eyelid (ptosis) leading to chronic progressive external ophthalmoplegia (CPEO), pigmentary retinopathy, and heart disease such as an arrhythmia leading to complete heart block or cardiomyopathy. Symptoms of this disorder are usually apparent before the age of 20 years.", "causes": "The exact cause of KSS is established in most patients. Most cases appear to occur as the result of a new spontaneous (de novo) deletion of a large amount (typically ~25%) of genetic material found in the DNA of mitochondria (mtDNA). Mitochondria, which are found by the hundreds in the cells of the body, particularly in muscle and nerve tissue, carry the blueprints for regulating energy production. As opposed to the genetic instructions of cellular chromosomes (nuclear DNA), which are found within the nucleus of each cell, multiple copies of mitochondrial DNA are found outside of the nucleus of the cell and within the mitochondria.", "affected": "KSS is a mitochondrial disorder that affects males and females in equal numbers. Onset is typically before the age of 20; however, symptoms may appear during infancy or adulthood. Eye abnormalities and developmental delays are often observed before the age of five.", "related-disorders": "Symptoms of the following disorders can be similar to those of KSS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), is also in the family of disorders known as mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in the genetic material arises from a part of the cell structure that regulates energy production (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies). The distinguishing feature in MELAS syndrome is the recurrence of stroke-like symptoms. Episodes of sudden headaches with vomiting and seizures may begin any time between the ages of five to 40 years. Muscular weakness on one side of the body (hemiparesis), blindness due to lesions in the area of the brain that regulates vision (cortical blindness), and/or impaired vision or blindness in one half of the visual field (hemianopsia) may also occur. In addition, individuals with MELAS syndrome may also exhibit an abnormal accumulation of lactic acid in the blood (lactic acidosis), progressive dementia, deafness, diabetes, and short stature. (For more information on this disorder, choose MELAS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:481", "name_zh": "肯尼迪病", "Name": "Kennedy disease", "disease_name": "Kennedy Disease", "synonyms": "KD", "disease-overview": "", "symptoms": "Affected individuals begin to develop neurological symptoms between 20 to 50 years of age. These early symptoms include:", "causes": "Kennedy disease is caused by a change (variant or mutation) in the AR gene that encodes for a protein known as the androgen receptor on the X chromosome. The instructions within every gene consist of different arrangements of four basic chemicals (nucleotide bases) called adenine (A), cytosine (C), guanine (G), and thymine (T). Individuals with the disease have an abnormal section in the AR gene, which is due to an excessive number of CAG trinucleotide repetitions in the DNA sequence. An unaffected individual has 10-35 CAG repeats in the AR gene while a person with Kennedy disease has more than 36 CAG repeats in the gene.", "affected": "Kennedy disease affects approximately 1/200,000 people worldwide and is very rare in females. Kennedy disease has been diagnosed in the USA, Europe, Asia, South America and Australia. The Japanese population appears to have a very high prevalence of Kennedy Disease because of a founder effect.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kennedy disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Adrenoleukodystrophy (ALD) is one of many different leukodystrophies. The adolescent or adult-onset form of the disorder is called adrenomyeloneuropathy (AMN), and symptoms of this form of ALD may be similar to those of Kennedy disease. Symptoms typically appear between the ages of 21 and 35. They may include progressive leg stiffness, spastic partial paralysis of the lower extremities and ataxia (clumsiness in walking). Decreased function of the sex glands may be present. Adult-onset ALD progresses slowly; however, it can ultimately result in deterioration of brain function. (For more information on this disorder, choose adrenoleukodystrophy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2333", "name_zh": "Kenny-Caffey综合征", "Name": "Kenny-Caffey syndrome", "disease_name": "Kenny-Caffey Syndrome", "synonyms": "dwarfism, cortical thickening of tubular bones & transient hypocalcemia", "disease-overview": "Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have recurrent episodes of low levels of calcium in the blood stream (hypocalcemia) that is caused by insufficient production of parathyroid hormones (hypoparathyroidism). In most cases, KCS2 is an autosomal dominant genetic disorder.", "symptoms": "KSC2 is present at birth (congenital) and low birth weight may be one of the first symptoms. This extremely rare genetic disorder is characterized by abnormalities affecting the skeleton, the head, and the eyes. Recurrent episodes of unusually low levels of calcium (hypocalcemia) in the blood are common. Most affected individuals, exhibit short stature of adult height ranging from 48 to 59 inches.  Intelligence is usually normal.", "causes": "In most cases, KCS2 is an autosomal dominant genetic disorder.  Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "KCS2 is an extremely rare skeletal disorder that affects males and females in equal numbers. Fewer than 60 cases have been reported in the medical literature. Onset of hypocalcemia is usually within two to three months of life; the hypocalcemia is not permanent (transient). In an adult, episodes of hypocalcemia may be due to stress or follow surgery or illness. KCS2 was first described in the medical literature in 1966.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kenny-Caffey syndrome type 2. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of KCS2 may be confirmed by x-ray studies of the skeleton that reveal distinctive thickening of the outer layers (cortexes) of long bones along with unusually thin marrow cavities. Blood tests can detect episodes of low levels of calcium in the blood (hypocalcemia).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:477", "name_zh": "角膜炎-鱼鳞病-耳聋综合征", "Name": "Keratitis Ichthyosis Deafness Syndrome", "disease_name": "Keratitis Ichthyosis Deafness Syndrome", "synonyms": "Ichthyosiform Erythroderma, Corneal Involvement, and Deafness Syndrome", "disease-overview": "Keratitis ichthyosis deafness (KID) syndrome is a rare, genetic, multi-system disorder. It is characterized by defects of the surface of the corneas (keratitis), red, rough thickened plaques of skin (erythrokeratoderma) and sensorineural deafness or severe hearing impairment. The skin on the palms of the hands and soles of the feet and the nails may be affected. KID syndrome belongs to a group of skin disorders marked by dry, scaly skin known as the ichthyoses. KID syndrome is inherited as an autosomal dominant trait.", "symptoms": "KID syndrome is present at birth.  Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment.", "causes": "KID syndrome is a genetic disorder and can be transmitted from a parent to a child in an autosomal dominant fashion. That means that each individual affected with the disease will have one abnormal gene for the disease and one normal gene. When, by chance, the abnormal gene copy is passed on to the offspring, the child will be affected. When the normal gene copy is transmitted, the child will be unaffected. The risk for an adult with KID syndrome to have an affected child is 50% for each pregnancy. Nevertheless, approximately nine out of ten patients carry a new, spontaneously occurring mutation that is not present in either parent.", "affected": "KID syndrome appears to affect females slightly more often than males. The disorder is very rare with fewer than 100 cases reported in the medical literature. Collectively, the ichthyoses affect more than 1,000,000 people in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of KID syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ichthyoses or disorders of cornification are general terms describing a group of scaly skin disorders.  They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin.  The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of the skin cells known as corneocytes or the fat-rich matrix around these cells.  These cells can be thought of as bricks, while the matrix would be the mortar holding these cells together.  (See Ichthyosis in the Rare Disease Database.)", "therapies": "Individuals with KID syndrome usually require multidisciplinary treatment due to the involvement of several organ systems and the potential impairment of hearing, speech, and sight."}
{"OrphaCode": "ORPHA:156071", "name_zh": "弃用：圆锥角膜", "Name": "Keratoconus", "disease_name": "Keratoconus", "synonyms": "conical cornea", "disease-overview": "Keratoconus is an eye (ocular) disorder characterized by progressive thinning and changes in the shape of the cornea. The cornea is the thin, clear outer layer of the eye and is normally dome-shaped. Slowly progressive thinning of the cornea causes a cone-shaped bulge to develop towards the center of the cornea in the areas of greatest thinning. Affected individuals develop blurry or distorted vision, sensitivity to light (photophobia) and additional vision problems. Keratoconus often begins at puberty and most often is seen in teenagers or young adults. The specific underlying cause is not fully understood and most likely the condition results from the interaction of multiple factors including genetic and environmental ones. One factor known to contribute to progression of keratoconus is eye rubbing. In some cases, keratoconus may occur as part of a larger disorder. Keratoconus is treated with glasses or contact lenses early in the condition. A small number of individuals may require surgery.", "symptoms": "The corneas in both eyes are usually affected (bilateral), although the progression and severity of the condition in each eye may differ (asymmetric development), which means one eye may be notably worse than the other. Symptoms usually become apparent during adolescence or young adulthood (i.e., late teens through early 20s). Keratoconus may become progressively worse for 10 to 20 years before slowing. Older adults typically do not have worsening of keratoconus. Because of the progressive nature of the disorder, affected individuals may have to change glasses frequently.", "causes": "The specific underlying mechanism(s) responsible for keratoconus are not fully understood. Most cases appear to occur randomly for unknown reasons (sporadically). However, a positive family history of keratoconus has been established in some cases. Most researchers believe that multiple, complex factors are required for the development of keratoconus including both genetic and environmental factors.", "affected": "Keratoconus affects both men and women and all ethnic groups worldwide. The disorder tends to develop most often among adolescents at or around puberty or during the late teen-age years. Males, African Americans and Latinos have a greater risk of development keratoconus, while females, Asian-Americans, and people with diabetes appear to have a lower risk.", "related-disorders": "Symptoms of the following disorders can be similar to those of keratoconus. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are a variety of conditions that can resemble keratoconus including abnormal thinning and steepening of the outer (peripheral) edges of the cornea (pellucid marginal degeneration); thinning of the cornea and an abnormal globe-shaped (globular) or spherical form to the cornea (keratoglobus); chronic non-ulcerative infiltration in the deep layers of the cornea of the eye (interstitial keratitis); and the corneal dystrophies, a group of genetic, often progressive, eye disorders in which abnormal material often accumulates in the cornea.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:50943", "name_zh": "角层分离性冬季红斑", "Name": "Keratolytic winter erythema", "disease_name": "Keratolytic Winter Erythema", "synonyms": "erythrokeratolysis hiemalis", "disease-overview": "", "symptoms": "KWE is characterized by the cyclical patchy redness and thickening of the skin of the palms and soles, followed by the appearance dry blisters which subsequently peel in an expanding pattern. The shedding skin has a thickish peel. The revealed surface skin appears glazed. These signs first appear during infancy or childhood and the disorder usually improves with age. The condition may be worsened by cold weather or episodes of fever.  Secondary infection may complicate the condition. In some patients, slowly enlarging circular red patches may develop, usually on the extremities. These slowly expand and have a trailing edge of peeling.  Other frequently encountered associated symptoms include itching, excessive sweating (hyperhidrosis or palmoplantar sweating) and a strong unpleasant odor.", "causes": "KWE is inherited and follows an autosomal mode of inheritance with males and females equally affected. It has been found to be associated with a duplication of an area of a chromosome that included an element known as an enhancer.  This ‘switches on’ a nearby gene or genes. One of these appears to be the gene CTSB which is has been shown to be overexpressed. The protein produced by this gene is cathepsin B. This is an enzyme that plays an important role in proteolysis (breakdown of proteins) causing a major disruption to the epidermal cell’s normal growth and development. These damaged cells fail to mature properly and are pushed outwards, still retaining their nuclei and this forms the peel.", "affected": "In South Africa, families with KWE are scattered throughout the country and some families have emigrated to the UK and to other countries.  The condition is much more common in South Africa owing to the founder effect. It affects families of both the white population and those of mixed racial descent. The patients in Germany, Denmark, Norway and the USA do not share the same ancestry.", "related-disorders": "Conditions causing peeling of the palms and soles include both acquired conditions as well as other familial conditions. In some circumstances, palmoplantar peeling may be an acute phenomenon related to infections or drug reactions and such transient conditions will not be considered further.", "diagnosis": "The diagnosis of KWE is based on the clinical findings of cyclical peeling of skin on the palms and soles and a family history of this condition. In most patients, skin biopsies are not required for the diagnosis. Genetic testing is limited to research laboratories.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2340", "name_zh": "棘状秃发性毛发角化病", "Name": "Keratosis Follicularis Spinulosa Decalvans", "disease_name": "Keratosis Follicularis Spinulosa Decalvans", "synonyms": "KFSD", "disease-overview": "Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder. KFSD is characterized by hardening of the skin (keratosis) on several parts of the body. Most frequently, the face, neck, and forearms are involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes and beard. Baldness (alopecia) usually occurs. People with KFSD may have reduced tolerance to bright light (photophobia), inflammation of the eyelids (blepharitis), and inflammation of the outer membrane of the eyeball and the inner eyelid (conjunctivitis, also known as pink eye). Some have abnormal accumulation of material in the clear outer layer of the eye (corneal dystrophy), which may cause loss of vision or blurred vision. Some may also have poor fingernail formation.", "symptoms": "KFSD is a type of ichthyoses, a group of inherited disorders of the skin in which the skin tends to be thick and rough and has a scaly appearance. Hardening of the skin around the hair follicles leads to scarring and baldness. This condition begins in infancy, initially appearing on the face and neck, and then progresses to the chest, back, abdomen, arms and legs. Hair loss of the eyebrows and scalp caused by the scarring become evident in childhood and progress until teenage years.", "causes": "Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "KFSD is a rare disorder affecting males more severely than females. Because some people with KFSD may go unrecognized or undiagnosed, determining the true frequency of these disorders in the general population is difficult. KFSD is estimated to affect about less than 1 in 1,000, 000 people in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of keratosis follicularis spinulosa decalvans. Comparisons can be useful for a differential diagnosis:", "diagnosis": "Tinea capitis (scalp ringworm) is a fungal infection of the scalp caused by different species of fungus. It is not inherited. Most cases occur between the ages of 3-7 years. It presents as numerous scaly macules and patches of broken hairs and alopecia on the scalp. More severe forms are associated with inflammatory papules, pustules, and plaques as well as systemic symptoms such as fever and malaise.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:218", "name_zh": "毛囊角化病", "Name": "Darier disease", "disease_name": "Keratosis Follicularis", "synonyms": "Darier disease", "disease-overview": "Keratosis follicularis, also known as Darier disease, is a rare, genetic skin disorder. Affected individuals develop skin lesions that consist of thickened, rough bumps (papules) or plaques that may also be greasy or have a brown or yellow crust. These hardened, scaly lesions may gradually grow bigger or spread. The nails and mucous membranes are also affected in most patients. Individuals may have periods of time when signs improve (remission), but the lesions usually recur (relapse). The specific problems vary from one individual to another. Keratosis follicularis is inherited in an autosomal dominant pattern.", "symptoms": "The symptoms of keratosis follicularis usually become apparent during the teen-age years often around puberty. Symptoms may develop in younger or older individuals, but rarely develop after the third or fourth decade of life. The severity of the disorder and the specific symptoms that develop vary, even among individuals within the same family.", "causes": "Keratosis follicularis is a genetic disorder that occurs randomly as the result of a spontaneous genetic change (i.e., new pathogenic variant or mutation) or the variant is inherited in an autosomal dominant pattern.", "affected": "Keratosis follicularis affects males and females in equal numbers. It is estimated to occur in 1 in 36,000 to 100,000 individuals in the general population. The disorder usually becomes apparent during the second decade in life but has developed in individuals as young 4 and older than 70. Keratosis follicularis was first described in the medical literature in 1889.", "related-disorders": "Symptoms of the following disorders can be similar to those of keratosis follicularis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of keratosis follicularis is made based upon a thorough clinical evaluation, a detailed history from the affected individual including the family history, identification of characteristic findings and microscopic examination (biopsy) of affected skin tissue. A biopsy may reveal abnormal formation of keratin tissue (keratinization) and failure of cell-to-cell adhesion (acantholysis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:415286", "name_zh": "胆红素脑病", "Name": "Bilirubin encephalopathy", "disease_name": "Kernicterus", "synonyms": "Bilirubin Encephalopathy", "disease-overview": "Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy. Bilirubin is an orange-yellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells (hemolysis). Toxic levels of bilirubin may accumulate in the brain, potentially resulting in a variety of symptoms and physical findings. These symptoms may include lack of energy (lethargy), poor feeding habits, fever, and vomiting. Affected infants may also experience the absence of certain reflexes (e.g., Moro reflex, etc.); mild to severe muscle spasms including those in which the head and heels are bent backward and the body bows forward (opisthotonus); and/or uncontrolled involuntary muscle movements (spasticity). In some cases, infants with kernicterus may develop life-threatening complications.", "symptoms": "In some cases, symptoms and physical findings of kernicterus appear two to five days after birth.  Within the first few days of life, affected infants develop abnormally high levels of bilirubin in the blood (hyperbilirubinemia) and persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice).  Toxic levels of bilirubin may accumulate in certain areas of the brain (i.e., the basal ganglia and the brainstem), potentially resulting in a variety of symptoms and physical findings that, in some cases, may cause life-threatening complications.", "causes": "Some cases of kernicterus occur randomly, for no apparent reason (sporadically).  According to the medical literature, excess levels of bilirubin (hyperbilirubinemia) alone is not sufficient to produce kernicterus.  Potential causes may include Rh disease and/or unknown factors.", "affected": "Kernicterus is a rare neurological disorder that affects newborn infants of both sexes in equal numbers.  Kernicterus occurs more often in premature infants than full-term infants.", "related-disorders": "", "diagnosis": "Kernicterus may be suspected within the first days of life. The diagnosis may be based upon a thorough clinical evaluation and identification of characteristic physical findings (e.g., jaundice, abnormal cry, loss of Moro reflex, etc.). In most cases, persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice) is apparent within the first few days of life.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97332", "name_zh": "Kienbock病", "Name": "Kienbock disease", "disease_name": "Kienböck Disease", "synonyms": "Lunatomalacia", "disease-overview": "Kienböck Disease is an acquired bone disorder. Abnormalities of the lunate bone in the wrist develops following an injury or inflammation. Recurrent pain and stiffness occur in conjunction with thickening, swelling and tenderness in soft tissue overlying the lunate bone. The range of motion in the wrist may become limited.", "symptoms": "Kienböck Disease is characterized by degenerative changes in the lunate bone of the wrist.  Softening, deterioration, fragmentation or compression of the affected bone can occur.  These changes may produce pain, swelling, tenderness, thickening and/or stiffness in the overlying tissues of the wrist.  The range of motion may become restricted.  Many individuals with Kienböck Disease have a shorter ulna than radius (negative ulnar variance).  Healing occurs through formation of new bone in some cases.", "causes": "The exact cause of Kienböck Disease is not known.  However, it is believed to be caused by inflammation or injury of the wrist.", "affected": "Kienböck Disease usually begins during childhood and seems to affect females more often than males.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kienböck Disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Carpal Tunnel Syndrome is a condition caused by compression of peripheral nerves in the wrist, affecting one or both hands.  It is characterized by a sensation of numbness, tingling, burning and/or pain in the hand and wrist. Persons affected by this disorder may be awakened at night with the feeling that the hand has gone to sleep.  Various other diseases may occur in conjunction with this condition.  With timely treatment, the prognosis in most cases is favorable.  (For more information on this disorder, please choose Carpal Tunnel as your search term online.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:50918", "name_zh": "Kikuchi-Fujimoto病", "Name": "Kikuchi-Fujimoto disease", "disease_name": "Kikuchi-Fujimoto Disease", "synonyms": "histiocytic necrotizing lymphadenitis (HNL)", "disease-overview": "Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenopathy, is a rare, benign (noncancerous, nonmalignant) disorder of the lymph nodes, predominantly of young adults and school aged children. While slightly more common in females, it is also seen in males. This disorder presents with similar signs and symptoms as lymphoma, including enlarged lymph nodes (lymphadenopathy) The exact cause is not known. KFD shows up as painful swelling of lymph nodes, often in the neck, along with general symptoms like fever and fatigue.", "symptoms": "KFD is a rare nonmalignant disorder that affects the lymph nodes. Lymph nodes are present throughout the body as small oval or kidney bean shaped structures that filter lymph fluid, fight infection and form white blood cells and blood plasma cells. Enlarged and painful lymph nodes are commonly in the neck region, but supraclavicular, axillary, thoracic, intraparotid, abdominal and pelvic lymph nodes may also be involved.", "causes": "The exact cause of KFD is not known (idiopathic). It is thought that an abnormal immune response, possibly influenced by viral infection or genetic factors, may play a role. It is thought to be related to viral infections like HIV, HSV, VZV and EBV, as well as autoimmune conditions such as lupus, sarcoidosis, lymphoma and Sjogren’s syndrome. Another theory is that KFD is a self-limited autoimmune condition. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "KFD, first identified in Japan in 1972, is extremely rare.", "related-disorders": "KFD may resemble other conditions that cause swollen lymph nodes such as lymphoma, tuberculosis, systemic lupus erythematosus (SLE) and infectious mononucleosis. Whether KFD is present at the start of SLE, coexists with SLE, or evolves into SLE depends on the patient’s condition. Symptoms of the following disorders can be similar to those of KFD. Comparisons may be valid for a differential diagnosis:", "diagnosis": "Burkitt’s lymphoma is a cancer of the lymphatic system that affects the lymph nodes as well as other areas of the body. Tumors may occur in the kidneys, sex glands, jaw, bone marrow, central nervous system and lymph nodes. Burkitt’s lymphoma may be infectious. This disorder often occurs in children living in Central Africa and is associated with the Epstein-Barr virus.", "therapies": "Treatment of KFD is symptomatic and supportive. Usually, the disorder resolves spontaneously within a few weeks or months. Analgesics-antipyretics and nonsteroidal anti-inflammatory (NSAIDs) may be used to treat pain, tenderness and lymphadenopathy-related fever. In extremely rare cases, KFD may recur."}
{"OrphaCode": "ORPHA:261494", "name_zh": "Kleefstra综合征", "Name": "Kleefstra Syndrome", "disease_name": "Kleefstra Syndrome", "synonyms": "9q-syndrome", "disease-overview": "", "symptoms": "Kleefstra syndrome has a wide range of symptoms that include physical, developmental and behavioral characteristics. While some physical features are apparent from birth (congenital), other symptoms, particularly behavioral, often develop during early childhood.", "causes": "Kleefstra syndrome is a genetic condition caused by changes in a specific region of chromosome 9, known as 9q34.3. The genetic changes that lead to Kleefstra syndrome can take different forms, including deletions (missing pieces) of the chromosome or pathogenic variants (previously known as mutations) within a specific gene called EHMT1.", "affected": "Kleefstra Syndrome affects both males and females equally. It occurs in people from all ancestral backgrounds. How often it occurs is not well understood. Many people with Kleefstra syndrome may be undiagnosed, making it challenging to accurately gauge the frequency of the disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kleefstra syndrome.", "diagnosis": "Kleefstra Syndrome may first be suspected based on characteristic features of the condition and tests done in a clinical evaluation. Often, a person with Kleefstra syndrome will be the only person with the condition in their family history. Molecular genetic testing that identifies the characteristic deletion in chromosome 9 or identifies a variant in the EHMT1 gene can confirm the diagnosis. Molecular genetic testing for the parents might also be recommended. A genetic counselor can explain what type of testing is most appropriate for the child and family.", "therapies": NaN}
{"OrphaCode": "ORPHA:33543", "name_zh": "克莱恩-莱文综合征", "Name": "Kleine-Levin Syndrome", "disease_name": "Kleine-Levin Syndrome", "synonyms": "Familial Hibernation Syndrome", "disease-overview": "Kleine-Levin syndrome is a rare disorder characterized by the need for excessive amounts of sleep (hypersomnolence), (i.e., up to 20 hours a day); excessive food intake (compulsive hyperphagia); and behavioral changes such as an abnormally uninhibited sexual drive. The disorder primarily affects adolescent males. When awake, affected individuals may exhibit irritability, lack of energy (lethargy), and/or lack of emotions (apathy). They may also appear confused (disoriented) and experience hallucinations. Symptoms of Kleine-Levin syndrome are cyclical. An affected individual may go for weeks or months without experiencing symptoms. When present, symptoms may persist for days to weeks. In some cases, the symptoms associated with Kleine-Levin syndrome eventually disappear with advancing age. However, episodes may recur later during life.", "symptoms": "Kleine-Levin syndrome is an extremely rare disorder characterized by the need for excessive amounts of sleep (hypersomnolence), excessive eating (compulsive hyperphagia), and behavioral abnormalities.", "causes": "The exact cause of Kleine-Levin syndrome is unknown. It is speculated that symptoms may develop due to malfunction or damage to the portion of the brain that helps to regulate functions such as sleep, appetite, and body temperature (hypothalamus). As with most diseases with no known cause, some researchers have speculated that, in some cases, symptoms may develop as a result of a head injury or an infectious disease affecting the hypothalamus; however, this is unproven.", "affected": "Kleine-Levin syndrome is a rare sleep disorder that primarily affects adolescent males, usually around the age of 16 years. However, there have been cases involving females and older men. Males appear to be affected three times as often as females (M3:F1). On average, women had a longer disease course than men.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kleine-Levin syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "", "therapies": "Kleine-Levin syndrome may be suspected based upon a thorough clinical evaluation and a detailed patient history. Kleine-Levin syndrome may be confirmed based upon excessive sleep requirements (hypersomnolence); the desire to eat all available food (compulsive hyperphagia); and hypersexuality. Certain medical tests may be performed to rule out other conditions such as epilepsy, brain lesions, meningitis or encephalitis."}
{"OrphaCode": "ORPHA:2345", "name_zh": "孤立型Klippel-Feil综合征", "Name": "Klippel-Feil Syndrome", "disease_name": "Klippel-Feil Syndrome", "synonyms": "fusion of cervical vertebral", "disease-overview": "", "symptoms": "KFS is a rare skeletal condition in which there is abnormal union and fusion of two or more vertebrae within the neck. The spinal column or backbone is made up of 33 irregularly shaped bones known as vertebrae. These bones are divided into different categories. The first seven vertebrae, beginning at the base of the skull, are known as the cervical vertebrae. KFS primarily affects the cervical vertebrae.", "causes": "In most individuals with KFS, the condition appears to occur randomly for unknown reasons (sporadically). However, in other cases, familial patterns have been reported that indicate autosomal dominant or autosomal recessive inheritance. Most likely, KFS is multifactorial, which means that several different factors including genetic factors all play some causative role. In addition, different genetic changes can cause KFS (genetic heterogeneity) in different people.", "affected": "The exact incidence of the disorder is unknown, although reports estimate that the condition occurs in approximately one in 42,000-50,000 live births. KFS affects females more frequently than males. More specifically, approximately 65 percent of affected individuals are female. According to reports in the medical literature, KFS type II appears to be the most common form of the condition.", "related-disorders": "Symptoms of the following disorder may be similar to those of KFS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multiple synostosis (SYNS) is also associated with the fusion of cervical vertebrae. Multiple synostosis 4 (SYNS4) is caused by variants in the GDF6 gene. SYSN4 is very difficult to distinguish from KFS because SYSN4 is also congenital and progressive with vertebral fusion from a very early age. Some people were wrongly diagnosed with KFS but in fact have SYSN4.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:329324", "name_zh": "逆行性Klippel-TrÚnaunay综合征", "Name": "Klippel-Trenaunay Syndrome", "disease_name": "Klippel-Trenaunay Syndrome", "synonyms": "KTS", "disease-overview": "", "symptoms": "Capillary Malformation (CM)", "causes": "KTS is caused by a change (variant or mutation) in the PIK3CA gene. This mutation does not occur in the germ cells (egg and sperm) but only in the body cells after fertilization. Therefore, KTS is not an inherited condition and is not passed on in a family.", "affected": "Klippel-Trenaunay syndrome is a rare disorder affecting males and females in equal numbers. The disorder occurs worldwide.", "related-disorders": "KTS can be confused with other combined vascular disorders.", "diagnosis": "KTS is diagnosed based on physical signs and symptoms. Computed axial tomography (CAT) and magnetic resonance imaging (MRI) scans, and color doppler studies may be useful in determining the extent of the condition and how best to manage it.", "therapies": NaN}
{"OrphaCode": "ORPHA:157823", "name_zh": "Kl³ver-Bucy 综合征", "Name": "Kluver-Bucy Syndrome", "disease_name": "Kluver-Bucy Syndrome", "synonyms": "bilateral temporal lobe disorder", "disease-overview": "Kluver-Bucy syndrome is a very rare cerebral neurological disorder associated with damage to both temporal lobes resulting in abnormalities in memory, social and sexual functioning and unusual (idiosyncratic) behaviors.", "symptoms": "Major symptoms may include excessive oral tendencies with hyperorality (an urge to put inappropriate objects into the mouth), hypermetamorophosis (a need to touch everything), compulsive eating, hypersexuality (extreme sexual behavior), visual agnosia (difficulty identifying objects), docility or plasticity (easily influenced), lack of normal fear, indifference, memory loss and other emotional changes. When associated with temporal frontal dementia, seizures or traumatic brain injury, there may be additional symptoms.", "causes": "Kluver-Bucy syndrome is the result of bilateral damage to the temporal lobes of the brain. This may be the result of trauma to the brain, tumors, degenerative brain diseases or some brain infections, most commonly herpes simplex encephalitis (a viral brain infection).", "affected": "Kluver-Bucy syndrome is a very rare disease that affects males and females equally.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kluver-Bucy syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Frontotemporal degeneration is a rare progressive neurological disease initially predominately affecting the frontal and temporal lobes of the brain. It is characterized by an initial predominance of changes in behavior and personality without memory changes. However, in later stages there is loss of motor control as well as confusion and severe dementia. (For more information on this disorder, choose frontotemporal degeneration as your search term in the Rare Disease Database.)", "therapies": "Treatment of Kluver-Bucy syndrome is supportive and psychotropic medications may be effective for some of the associated symptoms."}
{"OrphaCode": "ORPHA:485", "name_zh": "Kniest发育异常", "Name": "Kniest Dysplasia", "disease_name": "Kniest Dysplasia", "synonyms": "Kniest chondrodystrophy", "disease-overview": "Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasias.", "symptoms": "People with Kniest dysplasia are known to have an unusually short stature; short, deformed arms and legs; a chest that is barrel-shaped and abnormally short; and a relatively long trunk.  Later in life, short trunk dwarfism develops due to curvature of the spine and enlargement of the joints.", "causes": "Kniest dysplasia is the result of a change (mutation) in the gene known as COL2A1, which produces (codes for) the protein that forms collagen type 2.  This gene has been mapped to the following gene map locus: 12q13.11-q13.20.  The disorder is transmitted from parent to child as an autosomal dominant trait.  In some instances, the mutation appears to be spontaneous, occurring for no apparent reason.", "affected": "Kniest Syndrome is a rare disorder that affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kniest dysplasia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hypochondrogenesis (underdevelopment or lack of development of cartilage) is characterized by short-limb dwarfism, swelling of the body and face, widely spaced eyes (hypertelorism), a flat face and cleft palate.  Respiratory distress may develop, due to the small rib cage, and is a significant concern.  This disorder is an autosomal dominant trait.  The mutation may be spontaneous in many cases.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:563991", "name_zh": "跗骨软骨病", "Name": "Osteochondrosis of the tarsal bone", "disease_name": "Kohler Disease", "synonyms": "Kohler's Disease of the tarsal navicular", "disease-overview": "Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages 3-7, and affects males five times more often than females. Usually, just one foot is affected so children typically walk on the side portion of the foot.", "symptoms": "Kohler disease is a rare bone disorder characterized by a painful swollen foot. The foot is especially tender along the length of the arch. It may include redness of the affected area. Putting weight on the foot or walking is difficult, causing further discomfort and a limp. For reasons that are not understood, the flow of blood to one of the bones in the foot (navicular bone) is interrupted, resulting in progressive degeneration of that bone. In a relatively short time, however, the bone heals itself.", "causes": "The exact cause of Kohler disease is unknown.", "affected": "Kohler disease is a rare bone disorder of the foot that affects males more often than females. The disorder strikes children between the ages of 1 and 10 years with a peak occurring at ages 3 to 7 years. The center of bone growth that is affected in Kohler disease develops in young girls about one year before it appears in young boys. Nevertheless, the disorder is five times more prevalent in boys than girls.", "related-disorders": "Symptoms of the following disorders can be similar to those of Kohler disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Freiberg Disease is a rare bone disorder characterized by a pain in the area of the second or third metatarsals (long bones of the foot). Putting weight on the foot or walking can cause further discomfort and lead to a limp. This condition is usually diagnosed during adolescence or in the twenties.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:363958", "name_zh": "17q21.31微缺失综合征", "Name": "17q21.31 microdeletion syndrome", "disease_name": "Koolen-de Vries Syndrome", "synonyms": "17q21. 31 microdeletion syndrome", "disease-overview": "Koolen-de Vries syndrome (KdVS) is a rare genetic disorder with an estimated prevalence of about 1 in 30,000 people. Frequent features in individuals with this condition include feeding problems in infancy, muscle weakness (hypotonia) in young children, developmental problems, language/speech delay, learning disabilities and mild to moderate intellectual disability, epilepsy (in about 1 in 3 persons), characteristic facial features, farsightedness, hearing impairment, flexible joints, flat feet and curvature of the spine and/or congenital abnormalities.", "symptoms": "KdVS is associated with a broad spectrum of symptoms that vary greatly from person to person. Some individuals are more affected than others and an individual with KdVS will not have all the symptoms mentioned in this section. For instance, most will learn to speak at a later age, while some may not speak at all.", "causes": "KdVS is caused by a deletion of a small part of chromosome 17 or by a change (pathogenic variant) in the KANSL1 gene. Chromosomes are the carriers of the genetic information and are important for directing and regulating all processes in the body. The part of chromosome 17 that is missing in many people with KdVS is denoted by q21.31. The missing portion of the hereditary material is called a deletion. Because this small deletion is not visible with older techniques, the syndrome was first known as a 17q21.31 microdeletion. Until 2012, KdVS was called the 17q21.31 microdeletion syndrome, but in 2012 it was discovered that variants in the KANSL1 gene (one of the genes in the 17q21.31 region) can lead to the KdVS. This is the reason the condition was renamed. There is no relationship between the size of the deletion and the degree of symptoms. Furthermore, there is no clinical difference between persons with a 17q21.31 deletion and a KANSL1 pathogenic variant.", "affected": "The prevalence of Koolen-de Vries syndrome is unknown. The estimated prevalence of the 17q21.31 deletion is 1 in 30,000 individuals. Preliminary data suggest that pathogenic variants in the KANSL1 gene may be as frequent as the microdeletions, but more studies are needed to determine an unbiased prevalence. Koolen-de Vries syndrome occurs with equal frequency in males and females.", "related-disorders": "There are other conditions with symptoms similar to KdVS. Conditions that might be included in a differential diagnosis include 22q11.2 deletion syndrome, Prader-Willi syndrome, fragile X syndrome, Angelman syndrome and cardiofaciocutaneous syndrome.", "diagnosis": "Koolen-de Vries syndrome can be diagnosed in an individual with the typical symptoms described above and either of the following genetic abnormalities:", "therapies": NaN}
{"OrphaCode": "ORPHA:487", "name_zh": "Krabbe病", "Name": "Krabbe disease", "disease_name": "Krabbe Disease", "synonyms": "galactocerebrosidase deficiency", "disease-overview": "Krabbe disease belongs to a group of disorders called leukodystrophies, rare genetic disorders that affect the white matter of the brain. Krabbe disease is characterized by a deficiency in the enzyme galactocerebrosidase (GALC) which is an enzyme that uses water molecules to break down certain fats (lipids). Failure to break down these lipids results in deterioration of the protective covering (myelin sheath) surrounding nerves in the brain (demyelination). Characteristic globoid (sphere shaped) cells appear in affected areas of the brain. These enlarged fatty cells accumulate in affected areas and cause a variety of progressive neurological symptoms. Depending on the age that symptoms begin, individuals may present with intellectual and behavioral delays, blindness, deafness, paralysis of facial muscles (pseudobulbar palsy), muscle spasms and seizures. Most patients are diagnosed by measuring GALC enzyme activity in leukocytes taken from a blood sample. Very low activity could indicate a diagnosis of Krabbe disease. In some states, diagnosis may occur through newborn screening. If newborns are diagnosed before 14 days old, they are candidates for early treatment with hematopoietic stem cell transplantation (HSCT). Krabbe disease is inherited in an autosomal recessive pattern.", "symptoms": "Krabbe disease has four subtypes based on age of onset: early infantile-onset (<13 months); late-infantile onset (13-36 months), adolescent onset and adult onset. Eighty-five percent (85%) of all patients with Krabbe disease have the early infantile onset type. Early infantile-onset Krabbe disease is marked by initial normal development followed by rapid and severe deterioration. The average age of death after symptoms begin is two years, but it can range between eight months and nine years. Later onset Krabbe disease results in a slower decline in neurologic function and an increased life expectancy averaging eight years after symptoms begin. Adults diagnosed with Krabbe disease can have significant neurologic impairment but can live 30-50 years after diagnosis.", "causes": "Krabbe disease is an autosomal recessive genetic disorder caused by changes called pathogenic variants in the GALC gene. The gene variants lead to a deficiency in the enzyme galactosylceramidase. This enzyme metabolizes galactosylceramide, a component of the fatty covering (sheath) around the nerves (myelin). Galactosylceramide metabolism is vital to the destruction of old membranes and the creation of new, healthy myelin membranes, so the buildup of certain galactolipids is toxic to myelin-forming cells.", "affected": "An estimated 1 in 100,000 newborn babies have Krabbe disease. The more severe infantile-onset disease occurs in 85-90% of patients. The other 10-15% of patients are diagnosed with late-onset disease, though this number may now be higher based on data from state newborn screening programs.", "related-disorders": "Symptoms of the following disorders can be similar to those of Krabbe’s Leukodystrophy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "X-linked adrenoleukodystrophy (X-ALD) is one of many different leukodystrophies. The childhood cerebral (brain) form resembles Krabbe disease, which involves demyelination of white matter and complications of the adrenal cortex. X-ALD manifests most commonly between age four and eight (well after Krabbe disease symptoms typically appear). X-ALD initially resembles ADHD, and progressive impairment of cognition, behavior, vision, hearing and motor function, often leading to total disability within two years. (For more information on this disorder, choose X-Linked Adrenoleukodystrophy as your search term in the Rare Disease Database).", "therapies": "Hematopoietic stem cell transplantation (HSCT) is the current standard treatment for Krabbe disease. This is stem-cell transplant typically from bone marrow or the umbilical cord. Asymptomatic individuals benefit most from this treatment, initially showing near-normal development with some motor delays. The outcomes of this treatment for symptomatic patients are variable and based on age and progression of disease and symptoms. HSCT is usually not recommended for symptomatic individuals. HSCT effectiveness can be monitored with psychosine concentration, which is a biomarker for treatment with HSCT and should decrease with successful therapy. HSCT slows but does not reverse the progression of Krabbe disease, even when started in presymptomatic children."}
{"OrphaCode": "ORPHA:306674", "name_zh": "KUFOR-RAKEB综合征", "Name": "Kufor Rakeb Syndrome", "disease_name": "Kufor Rakeb Syndrome", "synonyms": "KRS", "disease-overview": "", "symptoms": "For most individuals, symptoms will begin to appear between 10 and 20 years of age. KRS is a neurodegenerative disorder, so the severity of symptoms tends to progress with time. Symptoms varies depending on the individual and can be divided in two major categories: symptoms that affect movement (motor symptoms) and those that do not (non-motor symptoms).", "causes": "Kufor Rakeb syndrome is an autosomal recessive disorder caused by changes (mutations) in the ATP13A2 gene. Recessive genetic disorders occur when an individual inherits a mutated gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.", "affected": "Kufor Rakeb syndrome is considered an ultra-rare disorder. Fewer than 50 individuals have been reported in the literature. Because KRS is a rare and complex disease, it is possibly underdiagnosed and the real prevalence of the disease is therefore hard to estimate. As it is the case for all autosomal recessive disorders, children of parents who are blood relatives are at an increased risk of developing the disease, as they are more likely to receive the same copy of a disease-causing (pathogenic) mutation from each parent.", "related-disorders": "As Kufor Rakeb syndrome is a complex progressive neurological disease with varied symptoms, it shares features with many other disorders. The appearance of characteristic symptoms of Parkinson’s disease (parkinsonism) in individuals under age 21 is known as juvenile parkinsonism. The causes of juvenile parkinsonism are multiple, including genetic juvenile onset Parkinson’s disease (KRS being in this category), other neurological or systemic disorders, infections, toxins, and drugs side effects. The following disorders are examples of conditions that can have symptoms similar to Kufor Rakeb syndrome.", "diagnosis": "A diagnosis of Kufor Rakeb syndrome requires an extensive patient history, as well as a complete physical and neurological examination. KRS can be suspected in individuals that start to develop atypical parkinsonism (typical symptoms of Parkinson’s disease in addition to other features such as dystonia, muscle stiffness, and rapid progression) between 10 and 20 years of age. MRI imaging will also show brain atrophy (cerebral atrophy) and possibly accumulation of iron in a brain structure called the basal ganglia (in the caudate and putamen, specifically). Genetic screening allows the identification of disease-causing (pathogenic) changes (mutations) in the ATP13A2 gene and can lead to a definitive diagnosis.", "therapies": "As there is no cure for Kufor Rakeb syndrome, therapy is focused on the management of symptoms and improvement of quality of life of affected individuals. As it is the case for typical (idiopathic) Parkinson’s disease, a combination of levodopa and carbidopa is usually prescribed. The goal of this medication is to alleviate motor symptoms by increasing the concentration of dopamine in the nervous system. Dopamine receptor agonists can also be used. Trihexylphenidyl and amantadine might also be prescribed, especially in cases where dopaminergic medication is not effective or tolerated. Botulinum toxin (Botox) can be used to treat dystonia. Physical, occupational and/or speech therapy can also be useful interventions. Treatment options for non-motor symptoms are more limited."}
{"OrphaCode": "ORPHA:275543", "name_zh": "L1综合征", "Name": "L1 syndrome", "disease_name": "L1 Syndrome", "synonyms": "HSAS, aqueductal stenosis, X-linked", "disease-overview": "", "symptoms": "The variable types of L1 syndrome were once thought to be different diseases, but all of the following conditions are now known to be caused by mutations in the L1CAM gene:", "causes": "L1 syndrome is an X-linked genetic disorder that occurs primarily in males. L1 syndrome is caused by mutations in the L1CAM gene located on the X chromosome.", "affected": "L1 syndrome is a genetic condition that occurs almost exclusively in males. The birth prevalence of the HSAS type of L1 syndrome is approximately 1 in 30,000 births. The frequency of all types of L1 syndrome is not known. Approximately 5% of female carriers of an L1CAM gene mutation have some symptoms that are usually mild.", "related-disorders": "In male patients with spastic paraplegia and developmental delay/intellectual disability, the L1CAM syndrome should be considered.", "diagnosis": "Neuropathology and neuroimaging are used to reveal hydrocephalus with or without stenosis of the aqueduct of Sylvius, corpus callosum agenesis/hypogenesis, cerebellar hypoplasia, small brain stem, and agenesis of the pyramids.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3473", "name_zh": "Zimmermann-Laband综合征", "Name": "Zimmermann-Laband syndrome", "disease_name": "Laband Syndrome", "synonyms": "Gingival Fibromatosis, Abnormal Fingers, Nails, Nose, Ear, Splenomegaly", "disease-overview": "Laband syndrome, also known as Zimmerman-Laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit abnormally long, thin fingers and toes and/or deformed (dysplastic) or absent nails at birth. In some cases, mental retardation may also be present. In most cases, Laband syndrome is believed to be inherited as an autosomal dominant trait. However, evidence of autosomal recessive inheritance has also been reported.", "symptoms": "Laband syndrome is an extremely rare genetic disorder characterized by abnormalities of the head and face (craniofacial) area and the fingers and toes, particularly the thumbs and great toes. Abnormalities affecting the fingers and toes may be apparent at birth (congenital); other symptoms may not become apparent until later during childhood. The range and severity of symptoms vary from case to case.", "causes": "Early reports suggest that Laband syndrome is inherited as an autosomal dominant trait. However, evidence for autosomal recessive inheritance exists as well. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Laband syndrome is an extremely rare genetic disorder that affects males and females in equal numbers. It appears that the disease most frequently affects individuals who are of Eastern Indian ancestry from India and the West Indies. However, the disorder has also been reported in individuals of European descent. More than 30 cases have been reported in the medical literature since the disorder’s original description in 1928.", "related-disorders": "Symptoms of the following disorder can be similar to those of Laband syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In most cases, Laband syndrome may be diagnosed during early childhood. The diagnosis may be confirmed based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. X-ray studies of the fingers and/or toes (digits) and clinical examination of the nose, ears, lips, and tongue may be helpful in identifying the disorder. Malformation or absence of the nails may be apparent at birth (congenital). Confirmation of Laband syndrome may not be made until gingival fibromatosis is observed when the primary teeth appear.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2363", "name_zh": "泪管-耳-齿-指综合征", "Name": "Lacrimoauriculodentodigital syndrome", "disease_name": "LADD syndrome", "synonyms": "lacrimo-auriculo-dento-digital syndrome", "disease-overview": "Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare genetic disorder characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. The most common findings involve malformations in the network of structures of the eye that secrete tears and drain them from the eyes (lacrimal apparatus) and abnormalities of the forearms and fingers. Specific symptoms may vary greatly from person to person. LADD syndrome may occur sporadically or be inherited in an autosomal dominant pattern.", "symptoms": "The symptoms of LADD syndrome may greatly vary from person to person. Abnormalities may potentially affect multiple organ systems of the body including the eyes, ears, teeth, and limbs.", "causes": "LADD syndrome may occur randomly as the result of a spontaneous genetic change (i.e., new mutation). The mutation is inherited in an autosomal dominant fashion. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "LADD syndrome affects males and females in equal numbers. More than 50 cases have been reported in the medical literature since the disorders first description in 1967.", "related-disorders": "Symptoms of the following disorders can be similar to those of LADD syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Molecular genetic testing of the FGF10 gene and selected regions of the FGRF2/3 genes is available to confirm the diagnosis. For information contact:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:501", "name_zh": "Lafora病", "Name": "Lafora disease", "disease_name": "Lafora Disease", "synonyms": "epilepsy progressive myoclonic 2", "disease-overview": "", "symptoms": "Lafora disease is characterized by an onset of symptoms between 8-19 years of age, with the peak symptom onset being between 14-16 years. There are also extremely rare cases of early onset Lafora disease in patients as young as 5 years. Most affected individuals do not have symptoms until adolescence and then may start to have headaches, trouble learning in school and, most characteristically, seizures. The most common type of seizure in Lafora disease is myoclonic seizures, which look like jerking or brief shaking movements. Other seizure types include tonic-clonic seizures (stiffening of muscles followed by jerking or shaking), absence seizures (staring spells), atonic seizures (the body becomes limp), and complex partial seizures (staring spells with jerking or repetitive movements in one part of the body). Focal occipital seizures that present as blindness or hallucinations are possible. Over time, seizures typically increase in severity and become more difficult to control. Status epilepticus (prolonged or back-to-back seizures) may occur.", "causes": "Lafora disease is caused by changes (pathogenic variants or mutations) in the EPM2A or EPM2B (also called NHLRC1) genes. EPM2A encodes the protein laforin, which is a phosphatase that forms a complex with the ubiquitin ligase, malin, encoded by EPM2B. The malin-laforin complex aids in monitoring and preventing excessive elongation of glycogen branch chains. When elongation is uncontrolled, glycogen branch chains cause glycogen molecules to precipitate into Lafora bodies, or abnormal glycogen particles which cannot be broken down and instead form accumulations that damage cells. These Lafora bodies build up throughout the nervous system as well as in tissues such as muscle, liver and skin.", "affected": "Lafora disease typically affects adolescent females and males equally and has been reported at higher frequencies in populations from the Mediterranean (Spain, France, Italy), Northern Africa, India and Pakistan. The disease prevalence from reported cases is around 4 per 1,000,000 people; however, this number may be an underestimate due to unreported or undiagnosed cases.", "related-disorders": "There are many conditions with symptoms that are similar to Lafora disease. They include, but are not limited to:", "diagnosis": "The diagnostic process for individuals with Lafora disease can occur in multiple ways. The first symptoms that bring a patient to a physician are usually focal or myoclonic seizures. Neurological findings typically start at 8-19 years of age. Lafora disease can be diagnosed with a skin biopsy that shows Lafora bodies in the cells of a patient’s sweat ducts. Molecular genetic testing for pathogenic variants in the EPM2A or EPM2B genes confirms the diagnosis.", "therapies": NaN}
{"OrphaCode": "ORPHA:43393", "name_zh": "Lambert-Eaton肌无力综合征", "Name": "Lambert-Eaton Myasthenic Syndrome", "disease_name": "Lambert-Eaton Myasthenic Syndrome", "synonyms": "Eaton-Lambert syndrome", "disease-overview": "Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder of the neuromuscular junction. It is a miscommunication between the nerve cell and the muscles that lead to the gradual onset of muscle weakness. It starts in the proximal muscles of the legs or arms. LEMS can be categorized into two different classes: LEMS associated with small cell lung cancer (SCLC) and LEMS without cancer association. Approximately 60 percent of patients with LEMS have SCLC, and the onset of LEMS symptoms often precedes the detection of the cancer. LEMS patients with cancer tend to be older, mostly male, and nearly always have a long history of smoking. In patients in which there is no associated cancer, disease onset can be at any age and in males and females. LEMS may impact quality of life depending on the severity of symptoms.", "symptoms": "LEMS is characterized by weakness and fatigue especially of the muscles in the legs and arms. The disease may affect the patient’s ability to engage in strenuous exercise and may make such activities as climbing stairs or walking up a steep walkway difficult. Onset is gradual, typically taking place over several weeks to many months. There is often a progression of symptoms whereby the shoulder muscles, muscles of the feet and hands, speech and swallowing muscles and eye muscles are affected in a stepwise fashion. The symptoms progress more quickly when LEMS is associated with cancer. Most LEMS patients also exhibit the following symptoms (sometimes called autonomic symptoms): dry mouth, dry eyes, constipation, impotence and decreased sweating. LEMS patients with or without cancer may also undergo significant weight loss. The tendon reflexes are diminished or absent on examination. In summary, LEMS is often described as a clinical triad of proximal muscle weakness, autonomic symptoms and reduced tendon reflexes.", "causes": "LEMS is an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. LEMS occurs because autoantibodies damage the voltage-gated calcium channels (VGCC) on the motor nerve membrane at the neuromuscular junction. These channels normally conduct calcium into the nerve resulting in the release of a chemical known as acetylcholine. Acetylcholine helps in the communication between nerve cells and muscles and is one of a group of chemicals known as neurotransmitters, which help to transmit nerve impulses. The autoantibodies attack the VGCC resulting in less acetylcholine release.", "affected": "The estimated worldwide prevalence of LEMS is about 2.8 per million, making it a rare disease. There are approximately 400 known cases of LEMS in the United States. When LEMS is associated with SCLC, the patients tend to be older and are more likely to be male. The average age of onset of SCLC is around 60 years of age. Approximately 3% of SCLC patients develop LEMS, but clinical symptoms of LEMS usually precede the SCLC diagnosis (sometimes by many years). When LEMS is not related to cancer, the syndrome may occur at any age, and the typical onset is about 35 years of age. LEMS is extremely rare in the pediatric population, and there have only been 11 affected children reported in literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Lambert-Eaton myasthenic syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Myasthenia gravis (MG) is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of the voluntary muscles, with improvement following rest. Any group of muscles may be affected, but those around the eyes and the muscles used for swallowing are the most commonly involved. Often, LEMS is misdiagnosed as MG because of the similarity in symptoms but there are key differences. In LEMS, eye muscle weakness, when present, tends to be mild and, unlike with MG, is almost never the only symptom of the disease. Severe respiratory muscle weakness, which can be fatal in MG, is rare in LEMS. The autonomic symptoms which affect most LEMS patients are not present in MG. For more information on this disorder, choose myasthenia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:313", "name_zh": "板层状鱼鳞病", "Name": "Lamellar ichthyosis", "disease_name": "Lamellar Ichthyosis", "synonyms": "collodion baby", "disease-overview": "", "symptoms": "Babies born with LI are sometimes called collodion babies. They are covered in a clear membrane (collodion) so it looks like they are covered with plastic wrap. Their skin can look red or dark, tight, and split. These newborns can have skin that is so tight that it forces their lips to turn outward. Also, the skin on their hands may be tight, preventing them from extending their fingers. Newborns can have problems regulating their body temperature and preventing water loss. They may also be more likely to develop skin infections. The collodion membrane is usually shed a few days to a few weeks after birth. Once this happens, the newborn is covered with broad, dark scales. The space in between the scales may be shallow or deep.", "causes": "LI can be caused by harmful changes in several genes. The most common gene related to this condition is TGM1. Other genes include NIPAL4, ALOX12B, and CYP4F22. These genes provide the instructions to make enzymes and proteins. These enzymes and proteins are important for normal development, function, and shedding of skin cells. There is also evidence that more genes are related to LI. The severity of the condition cannot always be determined based on genetic testing results.", "affected": "LI occurs in about one in 200,000 people. The condition can affect people of all genders, races, and ethnicities.", "related-disorders": "Signs and symptoms of the following disorders may be like those of LI.", "diagnosis": "", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98818", "name_zh": "Landau-Kleffner综合征", "Name": "Landau-Kleffner syndrome", "disease_name": "Landau Kleffner Syndrome", "synonyms": "acquired aphasia with convulsive disorder", "disease-overview": "Landau Kleffner syndrome (LKS) is a rare childhood disorder characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.", "symptoms": "The symptoms typically begin between the ages of three and seven years although the condition may rarely occur in children as young as 18 months of age. Affected children often appear to have acquired deafness since they fail to respond to verbal language and in some cases to nonverbal sounds. A significant minority of children with LKS also develops serious behavioral dysfunction, including hyperactivity, temper outbursts, or withdrawn behaviors but rarely the severe social impairments seen in autism spectrum disorders.", "causes": "The cause of Landau-Kleffner syndrome is unknown although a spectrum of epileptic conditions including LKS has been described in individuals with GRIN2A gene mutations and other candidate genes including RELN, BSN, EPHB2 and NID2 have been suggested. The response in some patients to immunosuppression has raised the question of autoimmune and other inflammatory mechanisms as potential contributors.", "affected": "Landau-Kleffner syndrome is a rare disorder that affects twice as many males as females. Affected siblings and discordant monozygotic twins have been reported rarely.", "related-disorders": "Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental condition typically appearing before the age of thirty months. They are characterized by impairments in social communication and severely restricted interests or repetitive patterns of behavior.  A significant minority of affected children have a history of developmental regression affecting language, social and behavioral functioning, which usually occurs between 18 and 30 months of age. Between 30-40 percent of children with ASDs have low scores on standardized intelligence tests. The clinical expression and severity of ASDs vary widely. The functional outcomes of those with ASDs   are improved with intensive behavioral and developmental interventions beginning in early life.", "diagnosis": "Epilepsy is a collective term given to a group of disorders of the central nervous system characterized by repeated seizures which are manifest by observable changes in consciousness, muscle activity or other neurological functions caused by electrochemical disturbances in the brain. The major symptoms include loss of consciousness, convulsions, body-jerking, sensory loss, confusion, and disturbances of involuntary body functions (autonomic nervous system). EEGs often show characteristic patterns of electrical discharge even in-between the clinical episodes. There are many different forms of epilepsy including primary generalized which can manifest by convulsive motor movements or staring unresponsiveness and focal  seizures which may be preceded by an aura, sometimes  described as a feeling of vague discomfort or change in sensation followed by  varying combinations of motor and sensory alterations. (For more information on this disorder, choose Epilepsy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:86823", "name_zh": "无脑回畸形伴小脑发育不全", "Name": "Lissencephaly with cerebellar hypoplasia", "disease_name": "Langerhans Cell Histiocytosis", "synonyms": "LCH", "disease-overview": "", "symptoms": "LCH is a disorder presenting in either single or multiple locations and thus causing a variety of signs and symptoms from mild to life-threatening. Single system presentations may be exclusively in the skin, bone, pituitary, or lungs. Patients affected in multiple systems most often have skin and bone involvement with any combination of other sites. When the liver, spleen, and bone marrow are involved, these patients are given the designation high risk which means the chance of death is approximately 15%. All patients with LCH in sites other than the bone marrow, spleen, and liver can be cured. (Gadner, Allen 2015)", "causes": "LCH is caused by mutations in a cell signaling pathway known as the MAPKinase pathway. Key genes mutated in this pathway include BRAF (65-70%), MAP2K (20%), and other rarer genes, all of which lead to abnormal activation of a gene known as ERK. (Durham) These mutations are genetic accidents which occur during DNA copying in dendritic cells and are not inherited. The maturation stage of the dendritic cell will determine what type of disease a patient will develop. If the mutation occurs when the dendritic cell is still in stem cell stage, this early precursor may go to any organ in the body-especially liver, spleen and bone marrow. Mutation in a more mature dendritic cell will lead to LCH in a variety of organs, but not the high risk ones mentioned before. An even more mature dendritic cell carrying this mutation may go to only skin and bone.", "affected": "Hispanics have a higher incidence of diffuse LCH involvement and Blacks are less affected than Whites. (Riberio) The overall incidence of LCH is between 4 and 9 cases per million with males slightly more affected than females (1.2:1) and the highest number of cases presenting in the first four years of life. The incidence is adults is not known, but may be 1-2 per million.", "related-disorders": "Symptoms of the following disorders can be similar to those of Langerhans cell histiocytosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Rosai-Dorfman disease (RDD) is a rare disorder characterized by overproduction) and accumulation of a specific type of white blood cell (macrophage/histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical lymphadenopathy). In some patients, abnormal accumulation of histiocytes (macrophages) may occur in other areas of the body besides the lymph nodes (extranodal). These areas include the skin, central nervous system, kidney, and digestive tract. The symptoms and physical findings associated with RDD vary depending upon the specific areas of the body that are affected. The disorder predominantly affects children, adolescents or young adults. Some RDD patients have KRAS and MAP2K mutations, but many have none. The diagnosis of RDD is made by finding excessive numbers of histiocytes that often have lymphocytes passing through their cytoplasm. (For more information on this disorder, choose Rosai-Dorfman as your search term in the Rare Disease Database.)", "therapies": "LCH"}
{"OrphaCode": "ORPHA:86872", "name_zh": "T细胞大颗粒淋巴细胞性白血病", "Name": "Large Granular Lymphocyte Leukemia", "disease_name": "Large Granular Lymphocyte Leukemia", "synonyms": "LGLL", "disease-overview": "", "symptoms": "The symptoms that patients with LGL leukemia most commonly experience are related to the changes in neutrophils, red blood cells and platelets. Changes in neutrophils are the most common, followed by changes in red blood cells, with changes in platelets being the least common. Patients can also have a combination of these changes. Many patients with LGL leukemia report fatigue and flu-like symptoms or other symptoms that are commonly associated with having an active infection, even when they do not have an infection (Lamy & Loughran, 2003). As discussed above, the LGL cells that do not die off continue to make the same inflammatory signals that they would during an active infection, so these additional symptoms are likely due to the body continuing to respond to those signals.", "causes": "The exact cause of LGL leukemia is not known. Ongoing research in the Loughran Lab at the University of Virginia has led researchers to theorize that patients develop LGLL following exposure to foreign antigens, potentially due to a viral infection. It is proposed that cells that are fighting off that virus are transformed by gene changes (mutations) and cannot die off as they typically would after they have fought off the virus (Kanchan & Loughran, 2003). These mutations develop in a group of mature cells after birth, so they are not passed down to a patient’s children. Recent research studies have catalogued the most frequently mutated genes in LGL leukemia (Olson et al., 2021; Cheon et al., 2022).", "affected": "The incidence of LGL leukemia increases with age. It is usually diagnosed in older people and rarely occurs in individuals under 30 years old. LGLL almost never affects children and is very rare in patients under the age of twenty. In the United States, the incidence of LGLL is thought to be 0.2 to 0.72 cases out of every 1,000,000 people, but this may be an underestimate. Patients in an early stage of the disease or people without symptoms may go undiagnosed.", "related-disorders": "", "diagnosis": "LGL leukemia cells can develop from two different types of large granular lymphocytes, cytotoxic T-cells and natural killer (NK) cells. The type associated with NK cells is very rare, and accounts for only 10-15% of cases. LGL leukemia of either type typically exhibits a slow-moving, chronic disease course. However there is an aggressive form of NK type of LGL leukemia that is primarily seen in Asian populations and is distinctly different than the chronic type of NK-LGL leukemia. Therefore, it is important to have an accurate and thorough workup focused on the known markers for LGL leukemia to correctly categorize the type of LGL leukemia.", "therapies": NaN}
{"OrphaCode": "ORPHA:503", "name_zh": "Larsen综合征", "Name": "Larsen Syndrome", "disease_name": "Larsen Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "The symptoms and severity of Larsen syndrome vary greatly, including between individuals belonging to the same family. In one large family whose members had Larsen syndrome caused by one of the recurring mutations, some affected individuals have cleft palate and multiple large joint dislocations, but others have no major anomalies and manifested only short stature and mild features, such as short distal phalanges (toe and fingertip bones) and extra bones in the wrist and ankle Mild short stature is common with height below the tenth percentile in 70% of the cases.", "causes": "The classic form of Larsen syndrome follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.", "affected": "Larsen syndrome affects males and females in equal numbers. It is estimated to occur in 1 in 100,000 individuals in the general population. Because of the difficulty in diagnosing Larsen syndrome, determining its true frequency in the general population is difficult. Larsen syndrome was first described in the medical literature as a distinct disease entity by Dr. Loren Larsen in 1950.", "related-disorders": "Symptoms of the following disorders can be similar to those of Larsen syndrome. Comparisons may be useful for a differential diagnosis. For more information on these disorders, use the specific disorder name as a search term in the Rare Disease Database.", "diagnosis": "The diagnosis of Larsen syndrome is made based upon a thorough clinical evaluation, detailed patient history, and identification of characteristic clinical and radiological findings. Radiographic examination can detect the presence and severity of associated skeletal findings. Molecular genetic testing can confirm the presence of the FLNB gene mutation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93961", "name_zh": "弃用：喉运动障碍", "Name": "Laryngeal Dystonia", "disease_name": "Laryngeal Dystonia", "synonyms": "LD", "disease-overview": "", "symptoms": "The severity of LD can fluctuate from symptom-free periods with normal voice to severely disabling periods where an affected individual will experience significant difficulty speaking clearly or be barely able to speak. Symptom fluctuation can occur during the same day or from day to day or longer. LD tends to affect normal conversational speech. Several studies have shown that singing, laughing, and yelling, are often unaffected.", "causes": "Most cases of LD are idiopathic, which means a cause is not identifiable. Several different factors may be involved in the development of the disorder (multifactorial). Several theories exist that attempt to explain the underlying mechanisms of LD including abnormal functioning of portions of the brain involved in muscle control, or imbalances in neurotransmitters. Neurotransmitters are chemicals that modify, amplify, or transmit nerve impulses from one brain cell (neuron) to another, enabling nerve cells to communicate. Although the underlying mechanisms and causes of LD are not well understood, research is ongoing to determine the specific roles that genetic, environmental, and other factors ultimately play in the development of the disorder.", "affected": "LD occurs more often in females than males and can affect individuals of all ethnic backgrounds. Onset can occur at any age, but usually occurs between 30 and 60 years of age. The exact incidence or prevalence of the disorder is unknown. LD is estimated to affect approximately 50,000 people in North America. However, determining the true frequency of LD in the general population is difficult because many cases are misdiagnosed or go undiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of LD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of LD usually involves careful assessment of the voice and speaking under different conditions by a speech pathologist, otolaryngologist, or neurologist. It also includes inspection of the voice box (laryngoscopy) to rule out structural abnormalities of the vocal cords such as nodules, polyps, or tumors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2004", "name_zh": "喉气管食管裂", "Name": "Laryngotracheoesophageal cleft", "disease_name": "Laryngotracheoesophageal Clef", "synonyms": "laryngeal cleft", "disease-overview": "", "symptoms": "When there is a connection between an infant’s airway and esophagus, food and liquid can pass into the lungs. This can lead to a variety of problems, including chronic cough, frequent lung infections, a high-pitched gasping sound usually heard during breathing in (stridor), a high-pitched musical sound usually heard when breathing out (wheezing), skin turning blue (cyanosis), pauses in breathing (apnea) and respiratory distress. Affected children often have feeding difficulties such as gagging, choking or coughing during eating, which can lead to failure to gain weight. Signs and symptoms of LTEC often begin in the first few days of life if the cleft is severe enough to affect feeding and breathing. Milder LTEC may not be diagnosed until years later.", "causes": "Laryngotracheoesophageal clefts are congenital, meaning they are present at birth. The cause is unknown.", "affected": "Laryngeal clefts are estimated to occur in 1 out of every 10,000-20,000 births. Laryngotracheoesophageal clefts are a subtype of laryngeal cleft, and the incidence of LTECs is even lower, estimated around 1/600,000 births.", "related-disorders": "LTECs can occur alone or in association with other health problems as a part of a syndrome. Some of the syndromes associated with LTEC include Opitz syndrome, DiGeorge syndrome, VACTERL association, CHARGE syndrome and Pallister-Hall syndrome. More information is available about these conditions in the Rare Disease Database.", "diagnosis": "The diagnosis of LTEC may be suspected based on clinical signs and symptoms. A doctor may perform a modified barium swallow study to further investigate symptoms. A swallow study involves having the infant or child drink a liquid that has been dyed with a white powder called barium. X-rays are taken of the child while swallowing to visualize any leakage of dye from the esophagus into the airway, which would indicate possible laryngeal cleft. Barium is not harmful to the child’s health. A swallow study can be supportive in diagnosing LTEC, but the preferred method of diagnosis is with a rigid laryngoscopy and bronchoscopy. This procedure involves using a camera with a light to look inside the larynx and trachea. This is typically performed under general anesthesia in the operating room. During this procedure, doctors measure the size of the connection between the airway and esophagus to understand the type and severity of LTEC.", "therapies": "The primary treatment for a laryngeal cleft is surgery to close the connection between the airway and esophagus. This surgery can be done either endoscopically by entering through a child’s mouth or an open approach by going through their neck. During this procedure, a surgeon will close the cleft with stiches. Endoscopic repair is preferable for mild laryngeal clefts, while open repair is often necessary for more severe LTECs (types III & IV) which is often the case for young infants with small airways. Both procedures are done when the child is asleep under general anesthesia in the operating room. Further management may include tracheostomy and/or gastrostomy tube for breathing and feeding assistance, among other supportive measures."}
{"OrphaCode": "ORPHA:2377", "name_zh": "劳伦斯-穆恩综合征", "Name": "Laurence-Moon syndrome", "disease_name": "Laurence-Moon Syndrome", "synonyms": "adipogenital-retinitis pigmentosa syndrome", "disease-overview": "", "symptoms": "The major signs that people present with which raise the suspicion that they may have LNMS are summarized below. The individual components of this condition can notably vary greatly in severity however.", "causes": "LNMS is most commonly attributed to changes (mutations) in the PNPLA6 gene. Genes are specific sequences in DNA that provide instructions for the production of proteins. Proteins serve as the body’s cellular machinery and building blocks. The PNPLA6 gene is responsible for the production of proteins that drive the breakdown of cell membranes. The PNPLA6 protein is an enzyme that is thought to drive the growth of nerve and non-nerve cells as they grow and mature. This gene is notably associated not only with LNMS but also Boucher-Neuhauser syndrome, Gordon-Holmes syndrome, and spastic paraplegia type 39. These conditions are described in brief under the Related Disorders section.", "affected": "Males and females are affected equally. In North America, it is estimated that 1 in 100,000 people is affected by LNMS. Kuwait and Newfoundland are two places where the number of people affects with LNMS are comparatively high.", "related-disorders": "The following conditions have notably been considered in the differential diagnosis for patients with LNMS given the similar presentation of symptoms. They are only briefly summarized here. Without genetic testing, it can be very difficult to clinically differentiate these conditions.", "diagnosis": "Due to its highly variable clinical presentation of the condition, no formal diagnostic criteria have been established for LMS or, for that matter, any PNPLA6-related disorders. LMS is definitively diagnosed with molecular testing for mutations in the PNPLA6 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:673538", "name_zh": "", "Name": "Littoral cell hemangioma of the spleen", "disease_name": "Leber Congenital Amaurosis", "synonyms": "LCA", "disease-overview": "Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). LCA is usually inherited as an autosomal recessive genetic condition.", "symptoms": "Children born with LCA have light-gathering cells (rods and cones) of the retina that do not function properly. Absence or reduction of the electrical activity of the retina is always observed and is necessary for the diagnosis of LCA.", "causes": "LCA is a monogenic disease and at least 27 genes are implicated. Changes (mutations) in these genes can account for about 80-90% of diagnosed cases of LCA. The genes responsible for the remaining 10-20% of diagnoses are not known. LCA is usually inherited as an autosomal recessive genetic condition. Twenty-four of the genes associated with LCA cause only recessive disease. Two genes (IMPDH1 and OTX2) are known to cause dominant disease. One gene (CRX) is known to cause either dominant or recessive disease, depending on the specific mutation.", "affected": "The prevalence of LCA has been estimated to be 1-2/100,000 births. This disorder affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Leber congenital amaurosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Loken-Senior syndrome is a rare autosomal recessive genetic disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. (For more information on this disorder, choose Loken-Senior as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:104", "name_zh": "Leber遗传性视神经病", "Name": "Leber hereditary optic neuropathy", "disease_name": "Leber Hereditary Optic Neuropathy", "synonyms": "Leber's hereditary optic neuropathy", "disease-overview": "Leber hereditary optic neuropathy (LHON) is often characterized by bilateral, painless subacute loss of central vision most commonly during young adult life. In most cases, symptoms begin with one eye first, followed a few weeks later by visual failure in the other eye. Extremely rarely there may be neurologic abnormalities, such as peripheral neuropathy, postural tremor, nonspecific myopathy, and movement disorders. LHON is caused by changes (called variants or mutations) in mitochondrial DNA and it is strictly transmitted by maternal inheritance. The prevalence of LHON in carriers and affected is approximately 1:50,000 people. Many carriers never suffer significant visual loss; males are about four to five times more likely than females to lose vision and be affected.  The incidence of visual loss, therefore, is much less and about 1:10 million/year", "symptoms": "Individuals with LHON typically display symptoms while young adult. If vision is lost, then it usually occurs before 40 years of age.", "causes": "LHON is caused by genetic mutations in the mitochondrial DNA (mtDNA). Mothers with a LHON gene mutation may not show symptoms, but family history often reveals maternal relatives with visual loss at an early age.", "affected": "The prevalence of visual loss from LHON is approximately 1:50,000 people. Most carriers never suffer significant visual loss; males are about four to five times more likely than females to lose vision and be affected.", "related-disorders": "Symptoms of the following disorders are similar to LHON. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Autosomal dominant optic atrophy (DOA) is related to the OPA1 family of genes that influences mitochondrial biogenesis and function. The family pedigree is autosomal dominant. The symptoms tend to come on at an earlier age (6-9) than in LHON and to do so in a more insidious and milder way. Generally, before puberty the child develops slowly progressive loss of vision and central scotomas a mild optic atrophy that progresses until about 20 years of age to a moderate loss of vision and optic atrophy. This difference in tempo and symmetry as well as the different genetics allows for the distinction with LHON.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2380", "name_zh": "Legg-CalvÚ-Perthes病", "Name": "Legg Calvé Perthes Disease", "disease_name": "Legg Calvé Perthes Disease", "synonyms": "LCPD", "disease-overview": "Legg-Calvé-Perthes disease (LCPD) is one of a group of disorders known as the osteochondroses. The osteochondroses typically are characterized by degeneration and subsequent regeneration of the growing end of a bone (epiphyses). In LCPD, the growing end of the upper portion of the thigh bone (femur) is affected. The upper section of the thigh bone is known as the head or the ball and connects to the hip in a depression or socket. This is the hip joint, which is a ball and socket joint. The disorder results from an unexplained interruption of the blood supply (ischemia) to the head of the femur, which causes degeneration (avascular necrosis) and deformity of the femoral head. Symptoms may include a limp with or without pain in the hip, knee, thigh, and/or groin; muscle spasms; and/or limited or restricted movement of the affected hip. The disease process seems to be self-limiting as new blood supplies are established (revascularization) and new healthy bone forms (re-ossifies) in the affected area. The exact cause for the temporary interruption of blood flow to the femoral epiphysis is not fully understood. Most cases appear to occur randomly for no apparent reason (sporadically).", "symptoms": "The age of onset, severity, duration, and associated complications of Legg-Calvé-Perthes disease vary greatly from one person to another. Generally, the onset is slow and the progression is gradual. The disorder usually affects children between the ages of eight and ten years, with some instances occurring as early as age two or as late as age 12. The disease typically affects one leg (unilateral); however, in approximately 10% of cases, the condition may subsequently develop in the other leg (bilateral).", "causes": "The symptoms of Legg-Calvé-Perthes disease develop due to damage to the growing portion (epiphysis) of the upper end of the thigh bone. This damage results from interruption of the blood supply (ischemia) to this region. This damages the bone-forming cells (osteoblasts) and resident bone cells (osteocytes) and results in degeneration (necrosis) and softening of the bone in this area. The upper end of thigh bone becomes fragile as bone mass is lost. It is possible that this fragile area may fracture internally, causing deformity. A thin line of decreased density (Caffey sign) may be apparent on the epiphysis, which may represent such a fracture within the bone (subchondral). Damaged bone may fragment and cause irregularities when blood flow to the affected area eventually resumes (revascularization). As the bone regrows and rehardens (re-ossifies), it may deform, resulting in permanent malformation of the upper thigh bone (e.g., abnormally flattened or unusually enlarged epiphysis).", "affected": "Legg-Calvé-Perthes disease affects males approximately four to five times as often as females (4-5:1). According to reports in the medical literature, when the disorder occurs sporadically, males are predominantly affected. However, in families with more than one affected member (kindreds), the disorder appears to occur relatively equally among males and females. Reported cases of LCPD include several individuals within multiple, multigenerational families.", "related-disorders": "Symptoms of the following disorder can be similar to those of Legg-Calvé-Perthes disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multiple epiphyseal dysplasia (MED) is a rare inherited spectrum of disorders characterized by malformation (dysplasia) of the growing portion or head of the long bones (epiphyses). Affected individuals may have an abnormally short thighbone (femur), unusually short hands and fingers, mild short stature, a waddling gait, and/or pain in the hips and knees. In some cases, painful swelling and inflammation of certain joints (arthritis) may be present as early as five years of age. Most cases of multiple epiphyseal dysplasia are inherited as autosomal dominant traits; rare cases are inherited as autosomal recessive traits. (For more information on these disorders, choose multiple epiphyseal dysplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:600832", "name_zh": "Legionellosis", "Name": "Legionella infection", "disease_name": "Legionnaires’ Disease", "synonyms": "Legionellosis", "disease-overview": "Legionnaires’ disease, caused by the aerobic gram-negative coccobacillus Legionella, mostly L. pneumophila, is an important cause of community-acquired pneumonia (CAP), accounting for approximatively 10% of cases. The exact incidence of Legionnaires’ disease is unknown due to different awareness levels in different countries, diagnostic methods and reporting, but the US Centers for Disease control (CDC) reported nearly 10,000 cases in the USA in 2018. Infection with Legionella occurs through the inhalation of an aerosol containing bacteria generated by water droplets, usually coming from a contaminated water system. It does not spread from person-to-person. Legionnaires’ disease often affects individuals over the age of 50, people who are heavy smokers and immunocompromised individuals.", "symptoms": "Legionnaires’ disease is a respiratory disease, which means it affects the lungs. The lungs are composed of lobes, two for the left and three for the right lung. The air travels in the lungs through the bronchi, then bronchioles and then into alveoli, which are little sacs forming lung tissue. Pneumonia is an inflammation of the lungs caused by an infection, where the alveoli fill with pus and can eventually become solid (consolidation).", "causes": "Legionellosis refers to disease caused by an infection with bacteria of the Legionella family, which includes 59 known species, from which 26 are known to cause disease in humans. These bacteria are gram-negative coccobacilli. The most common agent reported to cause Legionnaires’ disease is Legionella pneumophila serogroup 1.", "affected": "The incidence of Legionnaires’ disease in the USA was estimated to be 10,000 cases in 2018. There is seasonal variation as most patients are diagnosed in the summer and early autumn. Studies show that most cases were community-acquired pneumonia (CAP) while about a quarter of the cases were travelled-related and less than 10% were health-care-related. However, it is hard to get an accurate estimate of the incidence of this disease since it is underdiagnosed, underreported and it has been shown that some people will develop only mild illness or show no symptoms at all.", "related-disorders": "Like Legionnaires’ disease, Pontiac fever is also caused by exposure to bacteria from the Legionella family. Its symptoms usually include malaise, fever, headache, chills, muscle pain (myalgia), nausea, vomiting and diarrhea. The characteristic symptoms of pneumonia from Legionnaires’ disease are absent in Pontiac fever. The incubation period for Pontiac fever is one to two days, compared to two to 10 days in Legionnaires’ disease. Individuals affected by Pontiac fever usually do not require any treatment, as the illness is self-limited. Patients usually recover in one to eight days (median of four days) with no residual ill effects. Diagnostic tests are not usually performed on patients with Pontiac fever as there is no agreed-upon definition, specific findings or specific laboratory test to diagnose it. Therefore, clinical suspicion should be based on possible exposures, however, individuals with Pontiac fever can test positive with a urinary antigen test, which is discussed in the ‘’Diagnosis’’ section below. Pontiac fever does not affect specific groups more or less than others, unlike Legionnaires’ disease.", "diagnosis": "As mentioned above, a failure to respond to beta-lactam antibiotics or the appearance of gastrointestinal and neurological symptoms in pneumonia patients should raise suspicions about an infection with Legionella.  Legionnaires’ disease can be diagnosed with different laboratory tests such as PCR, cultures and a urinary antigen test. Legionella bacteria are very hard to detect on gram-stain so this is not the diagnostic method of choice in the case of Legionella pneumophila pneumonia. Blood tests can also be done to detect the presence of specific antibodies in the serum, but they are not a reliable diagnostic method as it takes several weeks for antibodies to appear in the blood and a positive result could be from a previous Legionella subclinical infection.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:506", "name_zh": "Leigh综合征", "Name": "Leigh syndrome", "disease_name": "Leigh Syndrome", "synonyms": "classical Leigh syndrome", "disease-overview": "Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years, but some patients do not exhibit signs and symptoms until several years later. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh syndrome progresses, symptoms may also include generalized weakness, lack of muscle tone (hypotonia), and episodes of lactic acidosis, which may lead to impairment of respiratory and kidney function. Several different genetically determined enzyme defects can cause the syndrome, initially described over 60 years ago. Most individuals with Leigh syndrome have defects of mitochondrial energy production, such as deficiency of an enzyme of the mitochondrial respiratory chain complex or the pyruvate dehydrogenase complex. In most cases, Leigh syndrome is inherited as an autosomal recessive trait. However, X-linked recessive and maternal inheritance, due to a mitochondrial DNA mutation, are additional modes of transmission.", "symptoms": "The symptoms of classical Leigh syndrome (infantile necrotizing encephalopathy), a rapidly progressive neurological disorder, usually begin between the ages of 3 months and 2 years. In most children, the first noticeable sign is the loss of previously acquired motor skills. When there is early onset (i.e., 3 months), loss of head control and poor sucking ability may be the first noticeable symptoms. This may be accompanied by a profound loss of appetite, recurrent vomiting, irritability, continuous crying and possible seizure activity. Delays in reaching developmental milestones may also occur. Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).", "causes": "Several different types of genetically determined metabolic defects can lead to Leigh syndrome. The condition may be caused by a deficiency of one or a number of different enzymes (e.g., mitochondrial respiratory chain enzymes or enzyme components of the pyruvate dehydrogenase complex). These enzyme deficiencies are caused by changes (mutations) in one of several different disease genes (genetic heterogeneity). These mutations may be inherited as an autosomal recessive trait, an X-linked recessive trait, or as a mutation found within the DNA of mitochondria. In some cases of Leigh syndrome, no genetic cause can be identified.", "affected": "The classical form of Leigh syndrome develops during infancy (infantile necrotizing encephalopathy) and usually begins between the ages of 3 months and 2 years. This form of the disease affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Leigh syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Wernicke syndrome and Korsakoff syndrome are related disorders that often occur due to a deficiency of thiamine (vitamin B1). Wernicke’s syndrome, also known as Wernicke encephalopathy, is a neurological disease characterized by the clinical triad of confusion, the inability to coordinate voluntary movement (ataxia), and eye (ocular) abnormalities. Korsakoff’s syndrome is a neurological disorder characterized by disproportionate memory loss in relation to other mental aspects. When these two disorders occur together, the term Wernicke-Korsakoff syndrome is used. In the United States, most cases occur in alcoholics. Some researchers believe Wernicke and Korsakoff syndromes are separate yet related disorders; others believe them to be different stages of the same disorder or disease spectrum. Wernicke syndrome is considered the acute phase with a shorter duration and more serious symptoms. Korsakoff syndrome is considered the chronic phase and is a long-lasting condition. (For more information on this disorder, choose Wernicke as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64720", "name_zh": "平滑肌肉瘤", "Name": "Leiomyosarcoma", "disease_name": "Leiomyosarcoma", "synonyms": "", "disease-overview": "Leiomyosarcoma is a malignant (cancerous) tumor that arises from smooth muscle cells. There are essentially two types of muscles in the body – voluntary and involuntary. Smooth muscles are involuntary muscles – the brain has no conscious control over them. Smooth muscles react involuntarily in response to various stimuli. For example, smooth muscle that lines the walls of the digestive tract causes wave-like contractions (peristalsis) that aid in the digestion and transport of food. Smooth muscles in the salivary glands cause the glands to squirt saliva into the mouth in response to taking a bite of food. Smooth muscle in the skin causes goose bumps to form in response to cold.", "symptoms": "The symptoms of a leiomyosarcoma vary depending upon the exact location, size, and spread of the tumor. A leiomyosarcoma, especially in the early stages, may not be associated with any obvious symptoms (asymptomatic). General symptoms associated with cancer may occur including fatigue, fever, weight loss, a general feeling of ill health (malaise), and nausea and vomiting.", "causes": "The exact cause of leiomyosarcoma is unknown. Researchers speculate that genetic factors may play a contributing role in causing LMS.", "affected": "Leiomyosarcomas affect both males and females. Leiomyosarcoma is a form of soft tissue sarcoma. According to the American Cancer Society, at least 15,000 new cases of soft tissue sarcoma occur each year in the U.S. Soft tissue sarcomas affect men and women equally and occur more often in adults than children or adolescents. Soft tissue sarcomas account for 1 percent of all adult cancers in the U.S. According to one estimate, leiomyosarcomas account for 7-11 percent of all cases of soft tissue sarcomas.", "related-disorders": "Symptoms of the following disorders can be similar to those of a leiomyosarcoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a leiomyosarcoma may be made based upon a detailed patient history, a thorough clinical evaluation and a variety of tests including blood tests, surgical removal and microscopic examination of tissue (biopsies) and various imaging techniques. In some cases, individuals may notice a painful lump or mass in the affected area. A key diagnostic aspect is distinguishing malignant leiomyosarcoma from its benign counterpart, the leiomyoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:507", "name_zh": "利什曼病", "Name": "Leishmaniasis", "disease_name": "Leishmaniasis", "synonyms": "", "disease-overview": "", "symptoms": "Leishmaniasis can affect people in different ways. Some have truly silent infection, and do not develop any signs or symptoms. Other people develop mild to moderate disease, but some develop severe infection which can lead to permanent damage and potentially life-threatening complications.", "causes": "Leishmanial infections are caused by > 20 different species of Leishmania parasites. Parasites are microscopic organisms that live in another organism (called the host, e.g., man) and survive by taking nutrients at the host’s expense. Leishmania are transmitted to humans or animals through the bite of an infected sand fly. Sand flies become infected by biting and sucking the blood of infected people or animals, especially dogs. Sand flies are very small and do not make any noise. Sometimes, their bites can be painful; most often, the bites are painless and go unnoticed. Sand flies are most active from dusk to dawn.", "affected": "Leishmaniasis seldom occurs in the U.S. Most people from the U.S. who become infected do so from travel to or living in regions where the disease is common. Cutaneous infection is periodically reported, however, in Texas and Oklahoma and one case was recently reported further north in North Dakota.", "related-disorders": "There are numerous different infectious diseases, inflammatory conditions, malignant neoplasms and skin conditions that can resemble the signs and symptoms of leishmaniasis.", "diagnosis": "The diagnosis of leishmaniasis is based upon characteristic symptoms and signs, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A detailed patient history includes whether a person has lived in or traveled to areas where the disease is common. For example, cutaneous leishmaniasis should always be considered with a non-healing or progressive skin lesion in a person who has traveled to or lived in a region where leishmaniasis is found.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2382", "name_zh": "Lennox-Gastaut综合征", "Name": "Lennox-Gastaut Syndrome", "disease_name": "Lennox-Gastaut Syndrome", "synonyms": "LGS", "disease-overview": "Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy that typically becomes apparent during infancy or early childhood. Affected children experience several different types of seizures, most commonly atonic, tonic and atypical absence seizures. Children with Lennox-Gastaut syndrome may also develop cognitive dysfunction, delays in reaching developmental milestones and behavioral problems. Lennox-Gastaut syndrome can be caused by a variety of underlying conditions, but in some cases no cause can be identified. Lennox-Gastaut syndrome can be difficult to treat because it is resistant (refractory) to many kinds of antiseizure medications. Research is ongoing to identify and assess new therapies for Lennox-Gastaut syndrome.", "symptoms": "The symptoms of Lennox-Gastaut syndrome usually begin during infancy or childhood, most often between 3 to 5 years of age. Multiple types of seizures, which are basically electrical disturbances in the brain, affect children with Lennox-Gastaut syndrome. Most affected individuals experience multiple types of seizures, multiple times throughout the day. As affected individuals grow older, the types and frequency of seizure activity may change.", "causes": "In approximately 70-80 percent of patients, Lennox-Gastaut syndrome has an identifiable cause. These cases may be referred to as symptomatic Lennox-Gastaut syndrome. Examples of conditions that can cause Lennox-Gastaut syndrome include abnormal development of the brain cortex (cortical dysplasia or other malformations), congenital infections, stroke, trauma, reduced oxygen supply that occurs before birth (perinatal hypoxia), infections of the central nervous system such as encephalitis or meningitis and a rare, genetic disorder called tuberous sclerosis. Approximately 17-30 percent of individuals with Lennox-Gastaut syndrome have a previous history of West syndrome. In general, these cases tend to be more severe.", "affected": "Lennox-Gastaut syndrome affects males slightly more often than females. Lennox-Gastaut syndrome is estimated to occur in .1-.28 people per 100,000 and is thought to account for 1-4 percent of all cases of childhood epilepsy. The annual incidence in children is estimated to be 2 per 100,000 children. Onset of Lennox-Gastaut syndrome is usually between 2-7 years with a peak onset between 3 to 5 years.", "related-disorders": "Symptoms of the following disorders can be similar to those of Lennox-Gastaut syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Lennox-Gastaut syndrome is defined as having three specific findings that must be identified for a diagnosis. This consists of multiple seizures of different types, a distinctive EEG brain wave pattern (slow [1.5- to 2.5-Hz] spike-and-wave pattern) (Note this pattern may not be present on every EEG.) and some degree of cognitive impairment and behavioral abnormalities. However, these symptoms may not all be present at the onset of the disorder, making an accurate diagnosis of Lennox-Gastaut syndrome difficult. The wide variety of potential causes of Lennox-Gastaut syndrome also complicates the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:568", "name_zh": "小眼畸形，Lenz型", "Name": "Lenz Microphthalmia Syndrome", "disease_name": "Lenz Microphthalmia Syndrome", "synonyms": "Lenz dysplasia", "disease-overview": "Lenz microphthalmia syndrome is an extremely rare inherited disorder characterized by small eyes (microphthalmos or microphthalmia) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. Rarely, affected infants may exhibit complete absence of the eyes (anophthalmos or anophthalmia). Additional physical anomalies are often associated, including a small head (microcephaly) and/or anomalies of the teeth, ears and/or fingers and/or toes (digits). The range and severity of findings may vary from person to person. Most affected children also exhibit developmental delays and intellectual disability.", "symptoms": "In affected males, the primary physical characteristic associated with Lenz microphthalmia syndrome is small eyes (one eye or both). In most cases, both eyes are affected and the eyes maybe of different size (bilateral, asymmetrical microphthalmos/microphthalmia). The front (anterior), clear portion of the eye through which light passes (cornea) may be small (microcornea). In addition, the colored portion of the eye (iris) may be differently formed with absent tissue (coloboma), giving the iris a keyhole appearance. Colobomas may also affect other parts of the eye, including the ciliary body, choroid and/or optic disc. In many patients, the upper eyelids may droop (blepharoptosis) due to paralysis of muscles that control the eyelids. In rare cases, affected infants may exhibit absence or only rudimentary (vestigial) portions of the eyes (anophthalmos/anophthalmia). Such eye findings may result in varying degrees of visual impairment or, in some people, blindness. The degree of visual impairment depends upon the severity and/or combination of eye abnormalities present.", "causes": "Lenz microphthalmia syndrome is caused by changes or pathogenic variants in the BCOR gene and is inherited in an X-linked pattern. Some researchers speculate that severe cases of Lenz microphthalmia syndrome may result from deletions of genetic material from two or more adjacent genes (contiguous gene syndrome) located on the X chromosome.", "affected": "Approximately 12 affected males with fully expressed Lenz microphthalmia syndrome have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Lenz microphthalmia syndrome. For more information on each of these disorders, enter the disease name as your search term in the Rare Disease Database.", "diagnosis": "The diagnosis of Lenz microphthalmia syndrome may be confirmed at birth, based upon a thorough clinical evaluation, characteristic physical findings and imaging techniques. Ultrasonography studies of the internal structure of the eye may demonstrate that the length from the front to the back of the eye (anteroposterior axis) is smaller than normal, confirming a diagnosis of microphthalmia. In some people, however, it may be difficult to distinguish severe microphthalmia from anophthalmia. Therefore, ultrasound imaging or magnetic resonance imaging (MRI) may sometimes be used to help confirm which condition is present. When MRI scanning is unable to clarify which malformation is present, other diagnostic steps may sometimes be taken to determine whether rudimentary (vestigial) portions of the eyes are present or absent.", "therapies": NaN}
{"OrphaCode": "ORPHA:179494", "name_zh": "瘦素受体基因缺陷所致肥胖", "Name": "LEPR Deficiency", "disease_name": "LEPR Deficiency", "synonyms": "obesity, morbid, due to leptin receptor deficiency", "disease-overview": "", "symptoms": "The symptoms of LEPR deficiency are different from person to person, with the most common symptom being early onset obesity. At birth, babies with LEPR deficiency have a normal weight. The earliest symptoms are constant hunger and excessive eating (hyperphagia) leading to rapid weight gain and obesity before one year of age. People with LEPR deficiency always feel hungry even after eating a full meal and often have abnormal behaviors related to food. Many have low levels of sex hormones (hypogonadotropic hypogonadism) causing delayed or absent puberty and infertility. Other symptoms may include low thyroid hormone and insulin resistance, which can lead to type 2 diabetes. Some children with LEPR deficiency get frequent infections because their immune system doesn’t work correctly. Excessive weight gain can lead to other symptoms such as abnormal bone growth, liver disease and difficultly walking.", "causes": "LEPR deficiency is caused by pathogenic variants (mutations) in the LEPR gene. The LEPR gene is responsible for making the leptin receptor, which works together with the protein, leptin. Leptin is made by fat cells and helps regulate energy storage in the body by balancing how much fat is made and how much is burned for energy. Without leptin receptors, leptin can’t do its job and the body doesn’t recognize when the body has enough energy and it’s time to stop eating.", "affected": "LEPR deficiency is a very rare disorder. In 2021, approximately 88 patients had been reported worldwide. It has been estimated that 1.34 per 1 million people may have this condition.", "related-disorders": "LEPR deficiency is one of several rare inherited conditions that include early-onset obesity with few or no other signs or symptoms. These conditions are due to variants in one of the genes that normally work together to help regulate hunger and growth of body fat. These conditions may be difficult to diagnose based solely on clinical examination and sometimes genetic testing is the only way to tell the difference between them.", "diagnosis": "LEPR deficiency is diagnosed based on a clinical examination, symptoms and the results of laboratory and genetic testing. Because there are several inherited conditions that include excessive hunger and early-onset obesity, genetic testing may be done to help make a specific diagnosis. This testing often involves using a gene panel, allowing the lab to look for genetic variants in several different genes at the same time. Genetic testing is usually done with a blood or saliva sample. It is helpful to speak to a genetics professional before having genetic testing to learn more about the risk, benefits and limitations.", "therapies": "Setmelanotide has been approved by the U.S. Food and Drug Administration (FDA) for people six years and older with obesity due to LEPR deficiency which has been diagnosed by genetic testing. This drug is given by daily injection. People taking setmelanotide are able to control their appetite, lose weight and maintain weight loss. People with LEPR deficiency may be treated by a variety of different medical specialists, including gastroenterologists, nutritionists and endocrinologists. A psychologist or other mental health professional can help people cope with the symptoms of this condition."}
{"OrphaCode": "ORPHA:508", "name_zh": "矮妖综合征", "Name": "Leprechaunism", "disease_name": "Leprechaunism", "synonyms": "Donohue syndrome", "disease-overview": "Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system). Affected infants may also have distinctive characteristics of the head and face (craniofacial region), low birth weight, skin abnormalities, and enlargement of the breast and clitoris in females and the penis in males. Leprechaunism is inherited in an autosomal recessive pattern.", "symptoms": "Leprechaunism is characterized by growth delays, as well as abnormalities of the head and face (craniofacial region) and of the endocrine system. Many of the symptoms associated with leprechaunism are present at birth (congenital). The range and severity of symptoms and physical characteristics may vary from person to person.", "causes": "Leprechaunism may be caused by disruption or changes (mutations) of the insulin receptor gene. Due to the mutation in the insulin receptor gene, individuals with leprechaunism are unable to use insulin effectively. Insulin is a hormone produced by the pancreas that plays an important role in the absorption of sugar (glucose) into muscle cells. Glucose is the body’s main source of energy. Some symptoms associated with leprechaunism, including growth deficiencies and hyperglycemia, develop as a result of severe insulin resistance of affected individuals.", "affected": "In reported cases, leprechaunism has occurred twice as often in females as in males More than 50 cases have been reported in the medical literature. Leprechaunism was first identified in the 1948 by Dr. W.L. Donohue.", "related-disorders": "Symptoms of the following disorders can be similar to those of leprechaunism. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Patterson pseudoleprechaunism syndrome is an extremely rare genetic disorder characterized by a normal birth weight, bronze discoloration of the skin (hyperpigmentation), loose skin on the hands and feet (cutis gyrata), and malformation (dysplasia) of the skeleton. Abnormalities affecting the endocrine system include enlargement of the adrenal glands and the adrenal cortex (hyperadrenocorticism) and diabetes mellitus. The exact cause of Patterson pseudoleprechaunism syndrome is not known.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:548", "name_zh": "麻风", "Name": "Leprosy", "disease_name": "Leprosy", "synonyms": "Hansen's Disease", "disease-overview": "Leprosy is a chronic infectious disease of humans caused by the bacteria Mycobacterium leprae. For many years, it was considered a mysterious disorder associated with some type of curse, and persons with the disease were isolated and ostracized. Today, there is effective treatment and the disease can be cured. There is no longer any justification for isolating persons with leprosy.", "symptoms": "The earliest symptoms are usually skin lesions that are typically flat, pale (hypopigmented) or reddish (erythematous) spots in the skin with slightly decreased sensitivity to touch or pain. These lesions typically do not present with other symptoms, such as burning or pain. There may be some hair loss in the affected area. As the skin lesions progress, they may become raised and, in some cases, nodules may form. The symptoms of nerve involvement include diminished sensation or feeling in the affected areas (anesthesia) and, sometimes, burning and tingling sensations (paresthesias). In more advanced cases, there may be weakness, paralysis, and atrophy of muscle in the hands or feet.", "causes": "Leprosy is a chronic infectious disease of humans caused by the bacteria Mycobacterium leprae. The disease has been known and described for several thousand years in India and China. Over 100 years ago, Armauer Hansen in Norway identified the bacteria as the cause of leprosy.", "affected": "Leprosy is relatively rare in the United States but is prevalent in some countries of Asia, Africa, and South America. There are about 7,000 persons in the United States that have been treated for the disease, and from 150-200 new cases are reported annually in the United States. About 85% of the U.S. cases are persons who have immigrated from other countries. North American Indians in the U.S.A. appear to be immune to this disease.", "related-disorders": "There are no closely related diseases.", "diagnosis": "The diagnosis can usually be made by the history and characteristic findings on examination. The important findings are decreased ability to feel light touch in a skin spot, enlarged or tender nerves in the arms or legs, numbness in a hand or foot, and finding the bacteria in the skin. There may also be loss of hair in the affected skin areas. A special type of skin smear is commonly done and will demonstrate the bacteria in the skin in lepromatous and borderline lepromatous cases. The bacteria are too few in tuberculoid cases to be found in a skin smear. A skin biopsy of a lesion can also be helpful to confirm the diagnosis. There are no blood tests or skin tests at the present time that are helpful in the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:509", "name_zh": "钩端螺旋体病", "Name": "Leptospirosis", "disease_name": "Leptospirosis", "synonyms": "Canefield Fever", "disease-overview": "Leptospirosis is an infectious disease that affects humans and animals. It results in a wide range of symptoms, and some people may have no symptoms at all. It is caused by a spiral-shaped bacterium (spirochete). Symptoms include high fever, chills, muscle aches, headache, vomiting, diarrhea, and jaundice (yellow skin and eyes).", "symptoms": "The symptoms of leptospirosis vary considerably.  Some people may experience no symptoms at all.  Some may experience moderate or more severe flu-like symptoms.  Some may experience very serious complications if the disease is not treated.", "causes": "Humans usually become infected through contact with water, food or soil containing urine from infected animals.  The bacterium associated with the disease, Leptospira, can be found in the urine of many different animals, such as dogs, cats, cattle, horses, pigs, and, especially, rodents.  The disease is transmitted to humans when infected urine enters the body when one swallows contaminated food or water or through breaks in the skin or contact with mucosal surfaces such as the eyes or nose.  The disease is not known to be spread from person to person.", "affected": "While leptospirosis is rare in the United States, it is common through tropical and semitropical regions.  It can affect individuals of all ages.  At least 75 percent of individuals with leptospirosis are male, mainly because workers in jobs that are at risk of the infection are more often held by males.", "related-disorders": "Many types of bacterial infections may cause fever and other symptoms similar to the symptoms of leptospirosis.", "diagnosis": "Diagnosis may be made during the early stage of the infection (days 1-7) by culturing the Leptospira bacterium from body fluids. From days 4 through 10, the cerebrospinal fluid is cultured, and after day 10, the patient's urine may be cultured. There are other tests of the blood and immune system that may be performed.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2900", "name_zh": "LERI氏过早骨化症", "Name": "Leri Pleonosteosis", "disease_name": "Leri Pleonosteosis", "synonyms": "Pleonosteosis, Leri Type", "disease-overview": "Leri Pleonosteosis is an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations, short stature, and/or limitation of joint movements. Characteristic abnormalities of the hands and feet may include unusually broad and/or short thumbs and great toes (brachydactyly) that may be bent outward from the body (valgus position); as a result, the hands may have a spade-shaped appearance. Skeletal malformations may include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord (posterior neural arches of the cervical vertebrae). In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms. Symptoms may vary from case to case. Leri pleonosteosis is inherited as an autosomal dominant genetic trait.", "symptoms": "Infants with this disorder typically have a flattened facial appearance that may be similar to that of infants with Down syndrome.  In rare cases, affected infants may also have an abnormally narrow distance between the upper and lower eyelids (blepharophimosis) and/or an unusually small part of the eye through which light passes (microcornea).", "causes": "When it was first identified, researchers believed that the signs of the disorder were due to the premature hardening (pleonosteosis) of the end portions of the long bones (epiphyses).  However, since that time, some researchers have speculated that the basic abnormality may be the pulling away of specialized connective tissue (periosteal traction) from the shafts of the long bones (metaphyses).", "affected": "Leri pleonosteosis is an extremely rare inherited disorder that affects males and females in equal numbers.  Approximately 20 cases have been reported worldwide, with most of these outside of North America. The symptoms and physical characteristics associated with Leri pleonosteosis usually become apparent during infancy or early childhood.", "related-disorders": "Symptoms of the following disorders can be similar to those of Leri Pleonosteosis .  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acromicric Dysplasia is an extremely rare inherited disorder characterized by unusual facial features, abnormally short hands and feet, and/or severe growth retardation.  Characteristic facial features may include abnormally narrow eyelid folds (palpebral fissures) and/or a short nose with nostrils that flare forward (anteverted nares).  Malformation of the bones of the hands and feet (e.g., metacarpals and phalanges) may also be present.  Acromicric Dysplasia is believed to result from a spontaneous genetic change that occurs for no unknown reasons (sporadic).  In addition, some researchers believe that the disorder may be inherited as an autosomal dominant genetic trait.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:240", "name_zh": "LÚri-Weill软骨发育不良", "Name": "Léri-Weill dyschondrosteosis", "disease_name": "Leri-Weill Dyschondrosteosis", "synonyms": "Leri-Weill disease", "disease-overview": "", "symptoms": "The specific signs and symptoms associated with LWD can vary greatly from one person to another. Generally, females appear to be affected more severely than males. The classic findings of the disorder are mesomelic shortening of the limbs, short stature, and Madelung deformity. Some individuals do not develop Madelung deformity and/or may obtain normal height.", "causes": "In most instances, LWD is caused by alterations (mutations) in or loss (deletion) of the short stature homeobox-containing (SHOX) gene or its regulatory regions. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "LWD is a rare disorder that can affect males or females. More cases of the disorder have been reported in the medical literature in females than in males by a 4:1 ratio. The prevalence is unknown, but often given as between 1 in 1000-2000 in the general population. However, many affected individuals may go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of LWD in the general population.", "related-disorders": "Differential diagnoses should include the other SHOX-related haploinsufficiency disorders and related conditions such as Turner syndrome and distal monosomy Xp.", "diagnosis": "A diagnosis is based upon a thorough clinical examination and identification of characteristic physical findings. A diagnosis can be difficult because certain symptoms may not be apparent until puberty. X-ray studies (radiographs), in particular a wrist X-ray, can reveal characteristic changes to the affected bones.", "therapies": "The treatment of LWD is symptomatic and supportive."}
{"OrphaCode": "ORPHA:206428", "name_zh": "次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症", "Name": "Hypoxanthine-guanine phosphoribosyltransferase deficiency", "disease_name": "Lesch Nyhan Syndrome", "synonyms": "HGPRT deficiency", "disease-overview": "Lesch-Nyhan syndrome is a rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purines are nitrogen-containing compounds found in many foods (e.g., organ meats, poultry, and legumes). In the absence of HPRT, the purines hypoxanthine and guanine are not built into nucleotides. Uric acid levels are abnormally high in people with Lesch-Nyhan syndrome and sodium urate crystals may abnormally accumulate in the joints and kidneys. Lesch-Nyhan syndrome is inherited as an X-linked recessive genetic disorder that, with rare female exceptions, most often affects males. The symptoms of Lesch-Nyhan syndrome include impaired kidney function, acute gouty arthritis, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms include involuntary muscle movements, and neurological impairment.", "symptoms": "The symptoms of Lesch-Nyhan syndrome may become apparent as early as six months of age. Earlier urate crystal formation, resulting from abnormally increased levels of uric acid in the urine, leads to the presence of orange colored deposits (orange sand) in the diapers of infants with this disorder. This may be the first manifestation of Lesch-Nyhan syndrome, but it is seldom recognized in early infancy.", "causes": "The only gene known to be associated with Lesch-Nyhan syndrome is located on the X chromosome and called HPRT1. Abnormalities (mutations) in the HPRT1 gene result in the absence or deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT) and the abnormal accumulation of uric acid in the blood.", "affected": "Lesch-Nyhan syndrome is a rare disorder that affects males. Rarely, females may be affected by the disorder. However, in most cases, females may be carriers of the disease gene, but do not exhibit any symptoms. According to one estimate, the disorder occurs at the rate of approximately one in 380,000 births in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Lesch-Nyhan syndrome in the sense that self-injurious behavior may occur. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Familial dysautonomia is a rare genetic disorder of the autonomic nervous system that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions. (For more information on this disorder, choose familial dysautonomia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2363", "name_zh": "泪管-耳-齿-指综合征", "Name": "Lacrimoauriculodentodigital syndrome", "disease_name": "Leukocyte Adhesion Deficiency Syndromes", "synonyms": "LAD syndromes", "disease-overview": "Leukocyte adhesions deficiency (LAD) syndromes are a group of rare disorders affecting the immune system. LAD syndromes are characterized by defects affecting how white blood cells (leukocytes) respond and travel to the site of a wound or infection. Three distinct types of leukocyte adhesion syndrome have been identified. The specific symptoms and the severity of LAD syndromes vary from one person to another. All affected individuals develop an increased susceptibility to developing recurrent bacterial and fungal infections. Additional symptoms may occur depending upon the specific subtype present. LAD syndromes are caused by mutations of specific genes that contain instructions for creating certain proteins that are necessary for white blood cells to travel from the bloodstream to the site of an infection or inflammation. Individuals with severe forms of LAD may have near complete absence of these proteins. Individuals who have milder forms of LAD syndromes have deficient levels of these proteins, but retain some residual protein activity.", "symptoms": "The symptoms of LAD syndromes can vary greatly from one person to another based upon the subtype present, the amount of residual protein activity and additional factors. The LAD syndromes are primary immunodeficiency disorders that cause individuals to be abnormally susceptible to developing infections. Affected individuals also have elevated levels of white blood cells (leukocytosis).", "causes": "Leukocyte adhesion syndromes are rare, genetic disorders. LAD I is caused by mutations of the ITGB2 gene. LAD II is caused by mutations of the SLC35C1 gene. The genetic defect in LAD III is a mutation in the gene for Kindlin 3, a protein essential for all integrins activation. Lack of integrins activation affects the ability of leukocytes and platelets to bind to the endothelium. In some cases, there is also a mutation in the gene for CalDAGGEF1, another protein important in integrins activation.", "affected": "LAD syndromes affect males and females in equal numbers. The exact incidence of these disorders in the general population is unknown. LAD I is by far the more common one with several hundreds of patients reported in the medical literature from all over the world. LAD II is very rare reported in less than 10 patients and LAD III is also rare with 25 patients mainly from the Middle East region. These disorders often go unrecognized and may be misdiagnosed, making it difficult to determine their true frequency in the general population. LAD I was first described in the medical literature in 1979. LAD II was first reported in 1992. LAD III was first reported in 1997.", "related-disorders": "Symptoms of the following disorders can be similar to those of LAD syndromes. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a LAD syndrome is suspected based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of tests such as a complete blood count (CBC). A CBC can detect elevated levels of a type of white blood cell known as a neutrophil (neutrophilia) and also lymphocytes. A diagnosis of LAD I should be ruled out in any infant with recurrent soft tissue infections and a very high white blood cell count (leukocytosis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:68356", "name_zh": "脑白质营养不良", "Name": "Leukodystrophy", "disease_name": "Leukodystrophy", "synonyms": "hereditary white matter disorders", "disease-overview": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can’t function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.", "symptoms": "Symptoms of some types of leukodystrophy begin shortly after birth, but others develop later in childhood or even in adulthood. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. Leukodystrophy can cause problems with movement, vision, hearing, balance, ability to eat, memory, behavior, and thought. Leukodystrophies are progressive diseases meaning that the symptoms of the disease tend to get worse over time. Some inherited leukoencephalopathies have stable white matter abnormalities.", "causes": "Leukodystrophies are genetic disorders caused by specific gene abnormalities that lead to abnormal development or destruction of the myelin sheath in the nervous system or white matter in the brain. Each type of leukodystrophy follows a particular pattern of inheritance such as autosomal recessive, X-linked recessive or autosomal dominant. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "The leukodystrophies can affect either adults or children, but are more common in children. Some types of leukodystrophy affect males and females equally but other types predominantly affect males.", "related-disorders": "Symptoms of the following disorder can be similar to those of leukodystrophy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multiple sclerosis (MS) is a chronic inflammatory disease affecting the myelin sheath of the brain and spinal cord (central nervous system). It may be progressive, relapsing and remitting, or stable. MS consists of small lesions called plaques that form randomly throughout the brain and spinal cord. These plaques on the myelin sheath prevent proper transmission of nervous system signals. White matter lesions in leukodystrophies tend to be more symmetric and confluent then in MS which may help distinguish the two conditions. Symptoms may include visual and speech problems, numbness, walking difficulty and loss of bladder or bowel control. MS affects both children and adults, and its cause is unknown.", "therapies": "Treatment of most leukodystrophies is symptomatic and supportive. Medications and physical therapy may be helpful for spasticity and motor difficulties. Anti-epileptic medications should be provided for seizures and burning paresthesia from peripheral neuropathy may respond to medications for neuropathic pain. Please review the NORD report on the specific type of leukodystrophy for information about successful therapies. Genetic counseling is beneficial for affected individuals and their families."}
{"OrphaCode": "ORPHA:137898", "name_zh": "脑干脊髓受累脑白质病-高乳酸综合征", "Name": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome", "disease_name": "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation", "synonyms": "LBSL", "disease-overview": "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare disorder characterized by a range of neurological issues. Affected individuals have disease of the white matter of the brain (leukoencephalopathy). White matter forms what is known as the myelin sheath, which is the protective covering of the nerve fibers. Without white matter, the signals between nerve cells cannot be transmitted properly. Lactate is a metabolite found in the brain; it’s exact role in the brain is not fully understood but it may help to supply energy to nerve cells. Lactate is elevated in most individuals with LBSL. Affected individuals exhibit a variety of symptoms including spasticity, weakness and progressive cerebellar ataxia. Spasticity is stiffness of the muscles, which leads to progressive difficulty with walking and for some, loss of the ability to walk. Cerebellar ataxia is difficulty with coordinating voluntary movements, which can lead a variety of issues including poor manual coordination, difficulty with fine motor tasks, and unsteadiness when walking. LBSL is caused by an abnormal variant (mutation) in the DARS2 gene. There is no cure and treatment is aimed at the specific symptoms that are present.", "symptoms": "Although researchers have been able to establish some characteristic or core symptoms that define LBSL, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the fact that many combinations of mutation types can produce this disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals or parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "LBSL is caused by an abnormal variant on in the DARS2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain and spinal cord.", "affected": "LBSL is an extremely rare disorder that was first reported in the medical literature in 2002. According to the nonprofit organization, A Cure for Ellie, as of April 2018, there are about 100 individuals worldwide who have been identified with the disorder. Because rare diseases like LBSL often go undiagnosed or misdiagnosed, it is difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of LBSL. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of LBSL is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including genetic testing to determine mutations in the DARS2 gene.", "therapies": "There is no cure for LBSL. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, general internists, specialists in diagnosing and treating disorder of the brain and central nervous system in children (neurologists), physical therapists, geneticists, social workers and other healthcare professionals may need to systematically and comprehensively plan treatment. Psychosocial support for the entire family is essential as well. Genetic counseling may be of benefit for affected individuals and their families."}
{"OrphaCode": "ORPHA:524", "name_zh": "Li-Fraumeni综合征", "Name": "Li-Fraumeni Syndrome", "disease_name": "Li-Fraumeni Syndrome", "synonyms": "LFS", "disease-overview": "", "symptoms": "LFS may be suspected if someone has a personal or family history of cancers featured in LFS. In addition, there are certain rare cancers that are characteristic of the syndrome that should alert clinicians to the potential of a diagnosis of LFS. Patients and families with multiple childhood cancers, or specific rare cancers such as adrenocortical, choroid plexus carcinoma, anaplastic rhabdomyosarcoma, sonic hedgehog medulloblastoma, or hypodiploid acute lymphoblastic leukemia should alert practitioners to the potential of a hereditary cancer syndrome such as LFS. Although increasingly identified as a hereditary cancer syndrome, not all physicians are aware of the diagnosis of LFS.", "causes": "Li-Fraumeni syndrome is caused by an inherited (germline) pathogenic variant of the TP53 tumor suppressor gene on chromosome 17. LFS was first recognized in 1969, and in 1979, TP53 was identified in the tumor tissue of more than 50% of all cancer patients. However, it wasn’t until 1990 that a TP53 germline variant was discovered to be the cause of LFS.", "affected": "Though it is challenging to estimate to frequency in the population, there are likely over 1,000 multigenerational families worldwide with LFS. To date, inquiries on the LFS Association website have arrived from 172 countries.", "related-disorders": "There are several other conditions with an increased cancer risk not related to variants of TP53.", "diagnosis": "Li-Fraumeni syndrome is diagnosed based on the presence of a so called pathogenic or likely pathogenic variant in the TP53 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33408", "name_zh": "大疱性扁平苔癣", "Name": "Lichen Planus", "disease_name": "Lichen Planus", "synonyms": "", "disease-overview": "Lichen planus (LP) is a rare, chronic, inflammatory autoimmune skin and mucous membrane disease. LP most commonly presents as itchy, shiny, reddish-purple spots (lesions) on the skin (cutaneous LP) or as white-gray lesions in the mouth or on the lips (oral LP). Less commonly, LP may also involve the genitals (penile or vulvar LP), scalp (lichen planopilaris), ears (otic LP), nails, eyes, and esophagus. Similar to lichen found growing on trees and rocks in forests, the skin lesions are often flat-topped and can be somewhat scaly, hence the name lichen planus.", "symptoms": "weeks or months and intermittent recurrences may occur for years. The appearance of the lesions is dependent on their location. In cutaneous LP, the lesions can present anywhere on the skin, usually on the wrists, legs, palms and soles or torso and are 2 to 4 mm in diameter with angular borders, a violet color and a distinct sheen in cross-lighting. These lesions tend to be symmetrically distributed and may also coalesce into rough scaly patches. Rarely, blisters may develop. Moderate to severe itching is common and frequently fails to respond to treatment.", "causes": "In most affected individuals, the exact cause of LP is unclear. It is suspected that exposure to infections, drugs, allergens, or injury may sensitize the immune system and cause the immune system to attack skin cells. This initial eruption may persist for weeks to months, and recurrences can continue throughout the individual’s lifetime. There have been reports of LP in family members, indicating that there may be a genetic predisposition, but the genetic factors of LP are still being researched and are uncertain.", "affected": "There is limited data on how many people are affected by LP, but most studies estimate that LP occurs in less than 1 percent of the world’s population. Cutaneous LP occurs at similar frequencies in men and women, but women are somewhat more likely to develop oral LP or lichen planopilaris. There does not appear to be a racial predisposition for the disease. The majority of LP develops between 30 and 60 years of age but can affect older and younger individuals as well. In rare cases, children may be affected.", "related-disorders": "There are several diseases that can look very similar to LP and are important to differentiate.", "diagnosis": "A diagnosis of LP can often be made from an examination of the skin or mucous membranes and identification of the characteristic clinical features.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33409", "name_zh": "欧洲非罕见：硬化性苔癣", "Name": "Lichen Sclerosus", "disease_name": "Lichen Sclerosus", "synonyms": "lichen sclerosus et atrophicus", "disease-overview": "Lichen sclerosus is a chronic inflammatory skin disorder that most commonly affects women before puberty or after menopause. Although rare, it can also be seen in men. When found in males, the disease is known as balanitis xerotica obliterans.", "symptoms": "Lichen sclerosus usually affects the external genitalia (vulva or penis) and/or the area around the anus (perianal region). Sometimes, it is accompanied by intense (intractable) itching, burning, and pain. If the disease is severe, even minor abrasions or chaffing can cause bleeding, tearing, and blistering. The scarring that results from untreated lichen sclerosus produces problems with urination, defecation, and intercourse. The presence of thin, easily irritated, and torn skin affects physical activity and clothing choice.", "causes": "The exact cause of lichen sclerosus is not known. Most research indicates it is an autoimmune condition. Autoimmune disorders arise when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases of lichen sclerosus may be linked to formation of certain antibodies (e.g. a thyroid protein (thyroglobulin), or certain cells that line the walls of organs).", "affected": "Lichen sclerosus affects mostly females, usually between the ages of 40 and 60 years. Females are six times as likely to be affected as are males. Younger females and males have also been identified in the medical literature in the United States. Female children under the age of thirteen have also been reported with the condition.", "related-disorders": "Symptoms of the following disorders can be similar to those of lichen sclerosus. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Morphea or localized scleroderma occurs in adults and children. Recent studies indicate that up to 20% of those with morphea, particularly post-menopausal women, may have changes that resemble lichen sclerosus in the genital area. Moreover, lesions of morphea may co-exist with lichen sclerosus on the body. For this reason, those with lichen sclerosus should have their skin examined for signs of morphea and those with morphea should be checked for lichen sclerosus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:526", "name_zh": "Liddle综合征", "Name": "Liddle syndrome", "disease_name": "Liddle Syndrome", "synonyms": "pseudoaldosteronism", "disease-overview": "", "symptoms": "There is no overt set of symptoms that is distinct in persons with Liddle syndrome to uniquely distinguish it from other disorders. The lack of an easily observable set of traits in the patient’s physical examination, other than an elevated blood pressure reading, presents difficulties for diagnosis (see sections below on Diagnosis and Related Disorders).", "causes": "Liddle syndrome is an autosomal dominant genetic disorder caused by mutations in the genes that code for the epithelial sodium channel (SCNN1A, SCNN1B, and SCNN1G). These mutations result in an increase in ENaC activity, sodium and water retention and hypertension.", "affected": "Estimates of how common Liddle syndrome is vary. A survey of symptoms of veteran patients with hypertension found that 6% met the non-genetic diagnostic criteria for Liddle syndrome (Tapolyai et al. 2010), which is a much higher prevalence than confirmed cases by genetic testing. Gene sequencing studies of early onset hypertension have suggested a population prevalence of about 0.9–1.5% among those who develop hypertension before age 30 (Liu et al. 2018). While most confirmed cases of Liddle syndrome are identified in children through evaluation of early-onset hypertension, cases have also been identified later in life (Pepersack et al. 2015).", "related-disorders": "Several disorders can produce symptoms similar to Liddle syndrome. These include a mutation to the mineralocorticoid receptor which makes it sensitive to progesterone, mineralocorticoid excess caused by mutations to 11-beta-hydroxysteroiddehydrogenase-type-II enzyme, glucocorticoid remediable aldosteronism and familial glucocorticoid resistance. Excess natural licorice consumption can also cause a transient Liddle-like syndrome. Some similar conditions can also have an autosomal dominant inheritance pattern. For example, primary aldosteronism (Conn’s syndrome) can produce similar symptoms and labs to Liddle syndrome with the exception of a high serum aldosterone level.", "diagnosis": "Diagnosis of Liddle syndrome often includes identification of symptoms, patient and family history and laboratory testing (e.g., plasma renin activity, serum aldosterone levels). Diagnosis begins with identification of resistant hypertension, and then analysis of laboratory values. This is followed by genetic testing. Clinicians consider the diagnosis of Liddle syndrome when evaluating secondary causes of hypertension and/or difficult-to-control hypertension. Resistant hypertension is defined by the American Heart Association as blood pressure that remains above goal despite optimal doses of 3 antihypertensive agents of different classes, one ideally being a diuretic.", "therapies": "The goal of treatment is to resolve the patient’s hypertension, lowering blood pressure measurements to achieve guideline targets of control. A controlled blood pressure reduces cardiovascular risk and often has a positive effect on the patient’s overall health, including mental health."}
{"OrphaCode": "ORPHA:263", "name_zh": "肢带肌营养不良", "Name": "Limb-girdle muscular dystrophy", "disease_name": "Limb-Girdle Muscular Dystrophies", "synonyms": "LGMD", "disease-overview": "Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Many different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age at onset, severity, and progression of symptoms of these subtypes may vary greatly from case to case, even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability.", "symptoms": "Although there are some common themes recognizable in the main types of LGMD, the age at onset, severity, and progression of symptoms associated with LGMD may vary greatly from case to case, even among members of the same family. Some cases of LGMD may have onset during adulthood, mild symptoms, and slow progression; others may have onset during childhood and early severe disability such as difficulty climbing stairs and walking. Some individuals eventually require a wheelchair. In most cases, childhood onset of LGMD results in a more severe disorder that progresses more rapidly than adolescent or adult onset cases.", "causes": "LGMD is a genetic disorder that is inherited as either an autosomal recessive or dominant trait. The autosomal recessive forms are estimated to account for 90 percent of cases. Genetic disorders are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "LGMD affects males and females in equal numbers. The incidence of the disorder is unknown. The prevalence of LGMD is unknown, but estimates range from one in 14,500 to one in 123,000. The age of onset can vary greatly even among individuals of the same family. The relative frequencies of the different types of LGMD vary from population to population, but worldwide LGMD2G, 2H and 2J are extremely rare.", "related-disorders": "Symptoms of the following disorders can be similar to those of LGMD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Within the LGMD group, it is important to reach a precise diagnosis so that the patient and his or her family may be given correct genetic advice, as well as appropriate guidance for the management of complications, which can vary from disease entity to disease entity. This particularly relates to the risk of cardiac or respiratory complications. The precise testing available today may make it possible for individuals who were given a presumed diagnosis of LGMD in the past to be reappraised and given a more precise molecular diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:69078", "name_zh": "脂肪肉瘤", "Name": "Liposarcoma", "disease_name": "Liposarcoma", "synonyms": "lipomatous tumor", "disease-overview": "", "symptoms": "As previously mentioned, most patients who are diagnosed with liposarcoma do not have any early symptoms and it can go unnoticed during the initial stages of the disease until the tumor has grown to a large enough size to compress neighboring tissues and cause pain or decreased function. It can sometimes be noticed as a deep-seated mass to touch. Liposarcoma, as with all other cancers, can present with non-specific symptoms such as fevers, chills, fatigue, night sweats and weight loss. If the tumor is retroperitoneal in location, it can present with specific symptoms in the abdomen, including abdominal or flank pain, swelling, and constipation or the sensation of feeling full sooner than expected after eating.", "causes": "The specific cause of liposarcoma is still unknown. Clinically, it can be first noticed particularly in the extremity in an area of recent trauma where the patient may find a mass, however the cause and effect are quite likely purely coincidental. Liposarcoma generally is attributed to a change in some of the genes that are normally present in fat cells. A series of abnormalities in these genes (mutations or DNA alterations) can lead to malignant changes characterized by uncontrollable growth.", "affected": "Liposarcoma is a soft tissue sarcoma, affecting approximately 2000 individuals each year in the United States. It affects men more than women, and more specifically middle-aged men ranging from 50 – 65 years of age. Children are rarely diagnosed, but when liposarcoma does occur in children, it is usually during adolescence. There is no specific ethnicity in which liposarcoma is more common. Certain risk factors have been shown to predispose individuals to developing soft tissue sarcomas, such as liposarcoma, including prior radiation, familial cancer syndromes, damage to the lymph system, and long-term exposure to certain toxic chemicals such as vinyl chloride, a chemical used to make plastic.", "related-disorders": "There are other diseases that can present very similarly to liposarcoma. Lipoma is a non-cancerous (benign) tumor that can look like liposarcoma, but it is usually softer and feels like a mass directly below the skin rather than in deeper parts of the body. A lipoma cannot transform into a liposarcoma. Other soft tissue tumors, such as undifferentiated pleomorphic sarcoma, lipomatous hemangiopericytoma, non-lipogenic sarcoma and gastrointestinal stromal tumors, can also look like liposarcoma when initially evaluated under a microscope.", "diagnosis": "The most critical step in the diagnosis of liposarcoma involves taking a biopsy of the mass of concern. A biopsy is when tissue is retrieved from the tumor in order to be evaluated under the microscope to assess whether or not the tissue has tumor-specific features. Since many of these tumors are deeply embedded into the body, imaging such as ultrasound can be used to guide where the needle is relative to the mass and ensure that the tissue sample is retrieved specifically from that mass.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:48471", "name_zh": "无脑回畸形", "Name": "Lissencephaly", "disease_name": "Lissencephaly", "synonyms": "agyria", "disease-overview": "", "symptoms": "Newborns with lissencephaly type 1 who have no underlying syndrome are said to have isolated lissencephaly sequence (ILS). In addition to lissencephaly, those with the condition may have other associated brain malformations, such as absence or underdevelopment of the corpus callosum, which is the thick band of nerve fibers that join and carry messages between the brain’s two cerebral hemispheres. Affected infants often also have microcephaly, seizures, and severe or profound intellectual disability. In addition, those with the condition may have a normal facial appearance or subtle facial changes, such as a relatively small jaw (micrognathia) or a slight indentation of the temples (bitemporal hollowing).  Additional symptoms and findings may include feeding difficulties, growth failure, abnormally diminished muscle tone (hypotonia) early in life, and increased muscle tone (hypertonia) later during infancy, and impaired motor abilities.", "causes": "Lissencephaly may be due to various non-genetic and genetic factors. Such factors may include intrauterine infection, insufficient supply of oxygenated blood to the brain (ischemia) during fetal development, and/or different gene mutations.", "affected": "The overall incidence of lissencephaly is rare and estimated around 1.2/100,000 births.", "related-disorders": "There is a related brain abnormality, lissencephaly type II, which is also known as cobblestone lissencephaly. It is characterized by severe brain malformations and associated obstructive hydrocephalus. Obstructive hydrocephalus is a condition in which there is obstructed flow of the fluid surrounding the brain and spinal cord (cerebrospinal fluid), resulting in increasing fluid pressure in the brain. Associated symptoms and findings may include abnormal enlargement of the ventricles of the brain, rapid enlargement of the head, and seizures. Lissencephaly type ll is a major manifestation of Walker-Warburg syndrome (see below).", "diagnosis": "When the suspicion is high for lissencephaly type 1 because of family history and/or prenatal ultrasound screening, it is possible that the condition may be confirmed by specialized testing during pregnancy, such as cell-free fetal DNA, amniocentesis or chorionic villus sampling (CVS).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:533", "name_zh": "李斯特氏菌病", "Name": "Listeriosis", "disease_name": "Listeriosis", "synonyms": "listeria infection", "disease-overview": "Listeriosis is a rare but serious infectious disease caused by the bacterium Listeria monocytogenes, which is predominantly transmitted to humans through the consumption of contaminated food. Clinical syndromes associated with listeriosis include febrile gastroenteritis, invasive disease (bacteremia, meningitis, meningoencephalitis) and pregnancy-associated infections causing spontaneous abortions, stillbirth, premature labor and neonatal disease. Approximately 20% of listeriosis cases are fatal. Listeriosis most often affects pregnant women and their newborns, adults aged 65 and older and individuals with weakened immune systems. Prompt recognition and treatment of the disease is necessary to avoid several serious complications.", "symptoms": "Symptoms associated with listeriosis may vary widely, ranging from mild febrile gastroenteritis to invasive disease (which occurs when the bacteria spread beyond the gastrointestinal tract) causing severe illness. People who are not pregnant most often present with bacteremia (bacteria in the blood), meningitis (infection of the meninges, the membrane surrounding the brain and spinal cord) or meningoencephalitis (infection of the meninges and brain). Common presenting symptoms in patients with bacteremia, meningitis, or meningoencephalitis include fever, muscle aches, headache, stiff neck, malaise, ataxia (loss of balance), convulsions and mental status changes, such as confusion. Less common clinical syndromes include endocarditis (infection of the lining of the heart), pneumonia, osteomyelitis (infection of the bone), septic arthritis (infection of the joint), abscesses of the brain or liver, peritonitis (infection of the membranes lining the abdominal cavity) and endophthalmitis (infection of structures within the eye). Symptoms secondary to these conditions depend on the anatomical site of infection and may include abdominal pain, bone pain, respiratory distress, pneumonia and heart failure. Outbreak investigations have demonstrated that listeriosis can cause febrile gastroenteritis, a noninvasive syndrome, in healthy individuals. Patients with febrile gastroenteritis typically experience diarrhea, fever/chills, fatigue, headache, abdominal pain and nausea.", "causes": "Listeriosis is caused by the bacterium Listeria monocytogenes. Nearly all cases of listeriosis (other than neonatal listeriosis) occur from eating contaminated food products, especially ready-to-eat, refrigerated foods. Unlike most foodborne bacterial pathogens, L. monocytogenes can grow at refrigeration temperatures. Listeria organisms are commonly found in the environment, including water, soil, mud and decaying vegetation. L. monocytogenes can be introduced into slaughterhouses and food manufacturing plants, which results in the contamination of food products such as meat or dairy products, raw produce and processed foods. Important sources of foodborne outbreaks include contaminated dairy products such as soft cheeses, unpasteurized or improperly pasteurized milk and ice cream, hot dogs and delicatessen meats and raw produce, including packaged salads, cantaloupe and sprouts.", "affected": "Invasive listeriosis usually affects pregnant women and their newborns, adults aged 65 and older and individuals with weakened immune systems (immunocompromised). Medical risk factors for invasive listeriosis include hematologic malignancy, organ transplantation, HIV infection or AIDS, alcoholism and liver and kidney disease. In the United States, L. monocytogenes accounts for ~5% of all cases of bacterial meningitis in infants <2 months of age and ~10% of all cases of bacterial meningitis in people ≥65 years of age. Invasive listeriosis occurs very infrequently in young, healthy adults. Overall rates of invasive listeriosis in the United States have remained relatively constant over the past decade (~3 cases per million population), as measured where active surveillance for listeriosis has been conducted.", "related-disorders": "Symptoms of the following disorders can be similar to those of listeriosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The differential diagnosis of listeriosis includes all causes of meningitis or sepsis in newborn infants, such as group B streptococcus infection; all causes of meningitis and encephalitis in older adults and in individuals with weakened immune systems; and all causes of febrile illness during pregnancy, including viral syndromes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2406", "name_zh": "闭锁综合征", "Name": "Locked In Syndrome", "disease_name": "Locked In Syndrome", "synonyms": "cerebromedullospinal disconnection", "disease-overview": "", "symptoms": "Individuals with locked-in syndrome classically cannot consciously or voluntarily chew, swallow, breathe, speak, or produce any movements other than those involving the eyes or eyelids. Some affected individuals can move their eyes up and down (vertically), but not side-to-side (horizontally). Affected individuals are bedridden and completely reliant on caregivers. Despite physical paralysis, cognitive function is unaffected.", "causes": "Locked-in syndrome is most often caused by damage to a specific part of the brainstem known as the pons. The pons contains important neuronal pathways between the cerebrum, spinal cord and cerebellum. In locked-in syndrome there is an interruption of all the motor fibers running from grey matter in the brain via the spinal cord to the body’s muscles and also damage to the centers in the brainstem important for facial control and speaking.", "affected": "Locked-in syndrome is a rare neurological disorder that affects males and females in equal numbers. Locked-in syndrome can affect individuals of all ages including children, but most often is seen in adults who are more at risk for brain stroke and bleeding. Because cases of locked-in syndrome may go unrecognized or misdiagnosed, it is difficult to determine the actual number of individuals who have had the disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of locked-in syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of locked-in syndrome is usually made clinically. A variety of tests may be performed to rule out other conditions. Such tests include magnetic resonance imaging (MRI), which shows the damage to the pons, and magnetic resonance angiography, which can show the blood clot in the arteries of the brainstem. These tests can also rule out damage elsewhere in the brain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:60030", "name_zh": "洛伊-迪茨综合征", "Name": "Loeys-Dietz syndrome", "disease_name": "Loeys-Dietz Syndrome", "synonyms": "LDS", "disease-overview": "", "symptoms": "LDS is a disorder of connective tissue, so it affects the bones, ligaments, arterial walls, and skin most significantly. A patient may not have all of the findings listed here, or maybe just one or two of the findings and still have the disease.", "causes": "About 1/3 of individuals with LDS have an affected parent, while 2/3 of cases are caused by new or de novo pathogenic gene variants (mutations). These variants may then be passed down to children in an autosomal dominant manner. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The non-working abnormal gene can be inherited from either parent or can be the result of a changed (mutated) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "LDS is a rare disorder that affects males and females in equal numbers. The prevalence of LDS is unknown though with more availability of genetic testing the number of patients diagnosed has increased significantly in recent years. The condition occurs in all ethnic groups.", "related-disorders": "Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with significant clinical overlap with LDS including aortic root aneurysm, pectus (chest wall) deformities, scoliosis and arachnodactyly. However, individuals with LDS more often have widely spaced eyes, cleft palate/bifid uvula, craniosynostosis and/or club feet.  Individuals with LDS also have aneurysms more throughout the arterial tree, where those with MFS are most often at the root of the aorta.  Individuals with MFS are more likely to have eye lens dislocations and heart valve problems. MFS is caused by pathogenic variants in the FBN1 gene. (For more information on this disorder, choose Marfan syndrome as your search term on the Rare Disease Database.", "diagnosis": "The diagnosis of LDS is based on clinical suspicion and molecular confirmation through genetic testing to look for pathogenic variants in the causal genes: TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB, and TGFB3. Genetic testing should be considered in patients with typical signs/symptoms described previously and in families with known histories of thoracic aortic aneurysms. Cleft palate/bifid uvula, widely spaced eyes, translucent skin, arthritis and/or arterial tortuosity or aneurysm should prompt a physician to consider testing for LDS.", "therapies": "There is no known cure for LDS, but there are treatments directed at specific symptoms. These treatments typically require a team of specialists including a geneticist, cardiologist, heart (cardiothoracic) and bone (orthopedic) surgeons, rheumatologist, among others."}
{"OrphaCode": "ORPHA:101016", "name_zh": "Romano-Ward综合征", "Name": "Long QT Syndrome", "disease_name": "Long QT Syndrome", "synonyms": "Autosomal Dominant Long QT syndrome", "disease-overview": "Long QT syndrome (LQTS) is an autosomal dominant disorder, caused by abnormalities of the heart’s electrical conduction system, and is characterized on the electrocardiogram (a test that records the electrical activity of the heart) by prolongation of the QT interval that corresponds to prolongation of the recovery phase or repolarization of the heart muscle (ventricular myocardium) after each heartbeat. QT prolongation predisposes those affected to an increased risk of life threatening sudden alterations in the cardiac rhythm, (termed arrhythmias), specifically torsade de pointes (TdP) or ventricular fibrillation (VF). These arrhythmias can lead to sudden loss of consciousness (syncope), cardiac arrest and potentially cause sudden cardiac death. The severity of cardiac symptoms varies greatly from one person to another, even among family members who carry the same rare genetic variant. Some individuals may have no apparent symptoms (asymptomatic) for their entire lives, whilst others develop arrhythmias resulting in episodes of syncope, and cardiac arrest, at a young age. Several different factors are known to trigger the onset of symptoms including physical activity, excitement and fright, although cardiac events may occur while asleep or at rest.", "symptoms": "Symptoms, including syncope, can occur at any age from the newborn period to middle age, but most often appear during the pre-teen years through the 20s. Generally, the severity and frequency of episodes decreases during middle age and symptoms are less common after the age of 40 years. Approximately 50% of individuals, who have a mutation in one of the 15 genes that predispose to the disorder, ultimately develop symptoms; the others remain asymptomatic.", "causes": "Genetics of LQTS", "affected": "Long QT syndrome affects males and females in equal numbers and has been identified in all ethnic groups. The exact incidence and prevalence of the disorder is not known. It is estimated to occur in approximately 1 in 2,000 live births from a clinical and genetic study of 44,500 newborns (neonates).", "related-disorders": "The symptoms of LQTS can overlap with many other conditions.", "diagnosis": "The diagnosis of long QT syndrome is a clinical one, based upon a thorough evaluation, a detailed patient and family history and a specialized test called an electrocardiogram (ECG or EKG). Individuals with unexplained history of fainting, syncope, atypical epilepsy or sudden cardiac arrest should be evaluated for Long QT syndrome. An ECG records electrical activity of the heart and may reveal abnormal electrical patterns. The ECG may be abnormal at rest, both in terms of QT interval prolongation and T-wave morphology (shape).  As the penetrance of LQTS is low, many patients may have a relatively normal ECG at rest but the QT interval and morphological changes can be brought out either by standing or during the recovery period from exercise.", "therapies": "Treatment is aimed at preventing symptoms such as syncope or cardiac arrest. Specific medications, avoidance of triggering events and QT prolonging medication, and certain medical devices may all be used to treat individuals with Long QT syndrome. Genetic counseling is of great benefit for affected individuals and their families to understand implications for family members, recurrence risk, family planning options, and psychological adjustment to disease and/or carrier status."}
{"OrphaCode": "ORPHA:99961", "name_zh": "良性复发性肝内胆汁淤积2型", "Name": "Benign recurrent intrahepatic cholestasis type 2", "disease_name": "Low Gamma-GT Familial Intrahepatic Cholestasis", "synonyms": "benign recurrent intrahepatic cholestasis types 1 and 2", "disease-overview": "Low gamma-GT (GGT) familial intrahepatic cholestasis refers to a spectrum of disease, ranging from mild to severe cases. This spectrum of disease predominantly affects the liver. Advancements in understanding of bile transport physiology have led to the discovery of a variety of protein defects whose dysfunction leads to low GGT familial intrahepatic cholestasis. Children with defects in bile acid synthesis or conjugation, children with abnormalities of cell organization manifest as arthrogryposis-renal dysfunction-cholestasis syndrome, and children with neonatal hemochromatosis all may have low GGT familial intrahepatic cholestasis. These disorders are not covered in this report.", "symptoms": "The age of onset, severity and specific symptoms of low GGT familial intrahepatic cholestasis may vary from one individual to another, even among members of the same family. Although these disorders are generally described as being either mild or severe, cases have been identified that appear to fall in between these extremes (intermediate types), leading researchers to classify these disorders as a spectrum of disease. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals or parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "PFIC1 (FIC1 deficiency) occurs due to disruptions or changes (mutations) in ATP8B1, a gene that encodes a protein that is thought to be involved in maintaining differences in composition among different portions of cell membranes. Its function has been proposed to permit the secretion and transport of bile acids from the liver to the digestive tract. It is expressed not only in the liver, but other areas of the body as well, where its function permits other transporter proteins to work correctly. Its absence or dysfunction thus leads to problems like pancreatic inflammation and loss of hearing.", "affected": "Low GGT familial intrahepatic cholestasis affects males and females in equal numbers. The exact incidence is unknown, but these disorders are extremely rare. However, because particularly in their milder forms these disorders often go unrecognized or misdiagnosed, they may be under-diagnosed, making it difficult to determine their true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of low GGT familial intrahepatic cholestasis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Neonatal cholestasis refers to impaired flow of bile at any point from the liver cells into the intestine of a newborn. Neonatal cholestasis may be caused by viruses, metabolic disease or genetic disorders, as well as other rare diseases that affect or impair the function of the liver. In a small percent of patients, the cause of liver injury is unknown – these cases are referred to as idiopathic neonatal hepatitis (INH). The incidence of neonatal cholestasis is estimated to be ~1:2500 live births worldwide, and 25% to 50% are now known to be associated with changes (mutations) in specific genes. (For more information on this disorder, choose neonatal cholestasis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:534", "name_zh": "Lowe眼脑肾综合征", "Name": "Oculocerebrorenal syndrome of Lowe", "disease_name": "Lowe syndrome", "synonyms": "OCRL", "disease-overview": "Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities. Lowe syndrome is inherited as an X-linked genetic condition.", "symptoms": "Boys with Lowe syndrome have cataracts that are present at birth in each eye (and detectable by high resolution ultrasound prenatally in suspect cases). With only extremely rare exceptions, these require surgery early in life, as soon as health allows for anesthesia to perform it. But even in optimal circumstances, corrected visual acuities when recordable are rarely better than 20/100. Approximately half of eyes will develop high pressure in the eye (glaucoma) that can damage the optic nerve and lead to blindness if not controlled. Infants with Lowe syndrome have poor muscle tone (hypotonia) at birth and experience delayed motor development. Almost all boys with Lowe syndrome have developmental and intellectual disability that can range from mild (~10%-25%) to severe (~50%-65%). Seizures occur in approximately half of those by six years of age, and behavioral problems are present in some boys with Lowe syndrome. A fraction of affected males develop growths on the corneas of one or both eyes called keloids during late childhood and adolescence. These growths are progressive and can lead to blindness.", "causes": "Lowe syndrome is an X-linked genetic disorder caused by a mutation in the OCRL gene that results in reduced activity of the phosphatidylinositol polyphosphate 5-phosphatase OCRL enzyme. About a third of affected males have a new mutation in the gene; in most of the rest, the disorder is inherited from a mother who is a genetic carrier of the condition.", "affected": "Lowe syndrome is a rare genetic disorder that occurs almost exclusively in males. The prevalence is estimated to be between 1 and 10 males per 1,000,000 people. This condition has been reported in North and South America, Europe, Japan, and India.", "related-disorders": "Signs of the following disorders can be similar to those of Lowe syndrome. Comparisons may useful for a differential diagnosis:", "diagnosis": "Congenital rubella (German measles) is a syndrome that occurs when a fetus has been infected with the rubella virus while in the uterus. It is primarily characterized by abnormalities of the heart and nervous system, the eyes, and the ears. The fetus is most vulnerable to the virus during the first three months of pregnancy, although pregnant women are advised to avoid exposure to rubella virus at all times. Women who contract rubella during pregnancy have a high risk of having a baby with congenital rubella. (For more information on this disorder, choose rubella, congenital as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:538", "name_zh": "淋巴管肌瘤病", "Name": "Lymphangioleiomyomatosis", "disease_name": "Lymphangioleiomyomatosis", "synonyms": "LAM", "disease-overview": "", "symptoms": "The symptoms of LAM vary depending on the organs affected.", "causes": "LAM is associated with the rare genetic disorder known as tuberous sclerosis complex (TSC) as both diseases are caused by changes (mutations) in one of two genes known as the TSC1 gene or TSC2 gene. There are two main types of LAM: sporadic LAM (called S-LAM that may occur without TSC) and LAM associated with TSC (called TSC-LAM). In both cases, abnormal LAM cells circulate in blood and lymphatic vessels and deposit in the lungs, causing cysts and lung damage. In S-LAM, mutations are thought to be somatic mutations (e.g., mutations that occur in peripheral tissues after conception and are not inherited). These mutations are not found in the blood or the normal lung or normal kidney cells of affected individuals. On the contrary, in TSC-LAM, these mutations may occur spontaneously (sporadically) for unknown reasons or be inherited in an autosomal dominant pattern. Most cases represent new (sporadic) gene mutations, with no family history of the disease.", "affected": "LAM is a rare disorder that is estimated to affect approximately 3.4-7.8/1,000,000 women worldwide. The US LAM clinic network follows ~1,500 patients with LAM and there are ~3,000 patients with LAM registered with The LAM Foundation. Current estimates suggest that there are roughly 8,000–21,000 patients with sporadic LAM and 80,000–160,000 patients with TSC-LAM worldwide. However, many researchers believe that the disorder is under-diagnosed making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of LAM. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are several obstructive lung diseases that can cause symptoms that are similar to LAM, such as emphysema, asthma and chronic obstructive pulmonary disease (COPD). In addition, one third of women with LAM have shortness of breath that is relieved by bronchodilators, just like in asthma, which often causes diagnostic delay. Fortunately, these other obstructive lung diseases can be ruled out with laboratory tests and radiographic (x-ray) studies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79489", "name_zh": "海绵状淋巴管畸形", "Name": "Macrocystic lymphatic malformation", "disease_name": "Lymphatic Malformations", "synonyms": "cavernous lymphangioma", "disease-overview": "", "symptoms": "Generally, symptoms from lymphatic malformations arise from compression or obstruction of nearby structures. Lymphatic malformations can involve any tissue. Usually they are found in only one area of the body (localized), but occasionally can be widespread (diffuse). When lymphatic malformations are widespread in bone and soft tissue, the condition may be referred to as lymphangiomatosis. Lymphatic malformations usually slowly grow larger as the patient grows, but sometimes get smaller spontaneously. Certain events such as puberty, infection, trauma or bleeding into a lymphatic malformation can cause them to grow rapidly.", "causes": "The exact cause of lymphatic malformations is unknown. Lymphatic malformations result from abnormalities in the development of the lymphatic vascular system during embryonic growth. In a large number of patients, the lymphatic malformations have an activating mutation in the PIK3CA gene. This is a somatic (non-inherited) mutation isolated to the lymphatic endothelial cells lining the fluid filled channels. PIK3CA is known to play a role in regulating cell growth by signaling through the PI3K/mTOR pathway. Five different point mutations in DNA from lymphatic malformation tissue have been identified. It is unclear, however, if mutations in the PIK3CA gene alone cause lymphatic malformations. Sometimes the term PROS (PIK3CA-related overgrowth syndrome) is used to describe instances when both a PIK3CA mutation has been detected and overgrowth of the affected area is present.", "affected": "Lymphatic malformations affect males and females in equal numbers. Most lymphatic malformations are evident at birth or within two years of age. However, in some patients, lymphatic malformations may not become apparent until adulthood. The exact prevalence of lymphatic malformations in the general population is unknown, but is thought to be approximately 1:4000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of lymphatic malformations. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of lymphatic malformation can often be made before birth (prenatally) using ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. After birth, a diagnosis of a lymphatic malformation is made based upon a physical examination along with a detailed patient history.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33001", "name_zh": "淋巴水肿-双睫毛综合征", "Name": "Lymphedema-Distichiasis Syndrome", "disease_name": "Lymphedema-Distichiasis Syndrome", "synonyms": "lymphedema with distichiasis", "disease-overview": "Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulation and the development of extra eyelashes (distichiasis). Distichiasis may range from a few extra lashes to a full set of extra eyelashes. Swelling most often affects both legs (bilateral) and usually occurs around puberty. Additional anomalies sometimes associated with this disorder include early onset varicose veins, droopy eyelids (ptosis), heart defects, cleft palate, abnormal heart rhythm and abnormal curvature of the spine (scoliosis). Lymphedema-distichiasis syndrome is caused by changes (pathogenic variants) of the FOXC2 gene and is inherited in an autosomal dominant pattern.", "symptoms": "The symptoms of lymphedema-distichiasis vary greatly from person to person even among members of the same family. The most common finding is the extra row of eyelashes (distichiasis). Most patients also develop swelling (edema) or puffiness of the legs because of the accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin.", "causes": "Lymphedema-distichiasis syndrome occurs due to variants that disrupt/change the forkhead family transcription factor (FOXC2) gene. It is currently unknown exactly how variants in this gene lead to the symptoms of lymphedema-distichiasis syndrome, but the variants are thought to result in loss-of-function.", "affected": "Lymphedema-distichiasis affects males and females in equal numbers. Lymphedema develops in males at an earlier age than females. The prevalence of this disorder in the general population is unknown. Lymphedema-distichiasis syndrome may go undiagnosed making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of lymphedema-distichiasis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of lymphedema-distichiasis syndrome is primarily made based upon a thorough clinical evaluation, a detailed patient history and the identification of characteristic findings (i.e., primary lymphedema, distichiasis). FOXC2 molecular testing is available clinically to help confirm a diagnosis. A variety of specialized tests may be performed to determine the extent of the disorder. Such tests include lymphoscintigraphy or an echocardiogram. During lymphoscintigraphy, a substance known as a contrast medium is injected into a lymphatic vessel (usually in a hand or foot). A series of x-rays are taken that show the medium as it moves through the lymphatic vessels giving physicians a picture of the health and structure of the lymphatic vessels. During an echocardiogram, reflected sounds waves are used to create an image of the heart, which can reveal congenital heart defects potentially associated with lymphedema-distichiasis syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33314", "name_zh": "皮肤Jessner淋巴细胞浸润症", "Name": "Lymphocytic Infiltrate of Jessner", "disease_name": "Lymphocytic Infiltrate of Jessner", "synonyms": "benign lymphocytic infiltrate of the skin", "disease-overview": "", "symptoms": "Patients living with lymphocytic infiltrate of Jessner may experience symptoms including itchiness  (pruritus), redness of the skin (erythema), and pimple-like eruptions (papules), most commonly on areas exposed to sunlight. These pimple-like lesions may last up to several months. As they extend from the perimeter, these lesions form well-defined, smooth, red patches (plaques) whose diameter may go as far as up to one inch.", "causes": "Lymphocytic Infiltrate of Jessner is a rare inflammatory disease with an unknown cause. What is known however is that this condition involves the inappropriate accumulation of T helper cells (subtype of white blood cells) in the skin. Some clinical scientists argue that this condition is possibly a subtype of the autoimmune condition known as lupus erythematosus, while others believe that it may have its own class.", "affected": "While its prevalence in the United States or Europe is not clearly understood as of yet, some scientists believe that lymphocytic Infiltrate of Jessner occurs predominantly in males. In addition, its onset usually occurs between the ages of thirty and fifty and rarely affects children.", "related-disorders": "Symptoms common in those living with Jessner’s lymphocytic infiltrate of the skin may also be found in other skin-related disorders. These include lymphocytoma cutis, mycosis fungoides, discoid lupus erythematosus; lupus erythematosus tumidus (LET), leprosy, polymorphous light eruption (PMLE), cutaneous lymphoid hyperplasia, granuloma annulare, and granuloma faciale. In some patients, it may be difficult to differentiate between Jessner’s lymphocytic infiltrate of the skin and the others mentioned above.", "diagnosis": "First, a thorough medical history and physical examination should be completed to assess for all potential risk factors including genetics and photosensitivity. In addition, a skin biopsy from a newly formed lesion should be tested in order to rule out other similar conditions including discoid lupus erythematosus (DLE) and polymorphous light eruption (PLE).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:86869", "name_zh": "淋巴瘤样肉芽肿", "Name": "Lymphomatoid granulomatosis", "disease_name": "Lymphomatoid Granulomatosis", "synonyms": "benign lymph angiitis and granulomatosis", "disease-overview": "Lymphomatoid granulomatosis is a rare disorder characterized by overproduction (proliferation) of white blood cells called lymphocytes (lymphoproliferative disorder). The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. The lungs are most commonly affected in lymphomatoid granulomatosis. Symptoms often include cough, shortness of breath (dyspnea) and chest tightness. Other areas of the body such as the skin, central nervous system, kidneys and liver are also frequently affected.", "symptoms": "The symptoms and progression of lymphomatoid granulomatosis vary greatly from person to person. The disorder may occasionally resolve without treatment (spontaneous remission) in some affected individuals or more commonly it will progress and cause life-threatening complications. Occasionally, it is an incidental and asymptomatic finding on chest radiographs.", "causes": "The exact cause of lymphomatoid granulomatosis is unknown. Lymphomatoid granulomatosis occurs with greater frequency in individuals with some form of immune system dysfunction including individuals with human immunodeficiency virus (HIV) infection and Wiskott-Aldrich syndrome. In most patients the cause of the immune dysfunction is unknown.", "affected": "Lymphomatoid granulomatosis affects males twice as often as females. It is most common in middle-age adults in the fourth to sixth decade of life, but can occur at any age and has been reported in children. The prevalence of lymphomatoid granulomatosis is unknown.", "related-disorders": "Churg-Strauss syndrome is a rare disorder that may affect multiple organ systems, especially the lungs. The disorder is characterized by the abnormal clustering of certain white blood cells (hypereosinophilia) in the blood and tissues, inflammation of blood vessels (vasculitis), and the development of inflammatory nodular lesions called granulomas (granulomatosis). Most affected individuals have a history of allergy. In addition, asthma and other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and findings seen in Churg-Strauss syndrome by as little as six months or as much as two decades. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs’ airways, causing difficulties breathing (dyspnea), coughing, the production of a high-pitched whistling sound while breathing (wheezing), and/or other symptoms and findings. Nonspecific findings associated with Churg-Strauss syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise), loss of appetite (anorexia), weight loss, and muscle pain (myalgia). Additional symptoms and findings may vary depending upon the specific organ systems involved. The nerves outside the central nervous system (peripheral nerves), kidneys, or gastrointestinal tract are often involved. Without appropriate treatment, serious organ damage and potentially life-threatening complications may result. Although the exact cause of Churg-Strauss syndrome is unknown, many researchers indicate that abnormal functioning of the immune system plays an important role. (For more information, choose Churg Strauss as a search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of lymphomatoid granulomatosis is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests such as the surgical removal and microscopic examination (biopsy) of tissue samples taken from an affected organ such as the lungs. A skin biopsy is not reliable because the characteristic abnormal cells may be missing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:834", "name_zh": "游离性唾液酸贮积病", "Name": "Lysosomal Free Sialic Acid Storage Disorders", "disease_name": "Lysosomal Free Sialic Acid Storage Disorders", "synonyms": "", "disease-overview": "", "symptoms": "The symptoms and severity of FSASD are highly variable. Some individuals will develop severe, life-threatening complications; others will have milder findings. The more severely affected patients usually exhibit symptoms within six months of birth or even before birth; milder cases may become apparent later during infancy or childhood. Affected individuals may not have all the symptoms discussed below.", "causes": "FSASD is caused by changes (variants) in the SLC17A5 gene. The SLC17A5 gene contains instructions for producing (encoding) a protein called sialin that is required to transport free sialic acid out of lysosomes and into the cytosol of cells. Sialic acid is a charged sugar produced when lysosomes break down certain sugar-containing proteins (glycoproteins), carbohydrates or fats (glycolipids). In sialic acid storage disorders, deficient levels of functioning sialin result in the accumulation (storage) of free sialic acid in lysosomes.", "affected": "FSASD affect males and females in equal numbers. The worldwide prevalence of FSASD is estimated at less than 1 per 1,000,000 individuals. Higher estimated prevalence rates occur in the Salla region of Finland and in other Scandinavian countries.", "related-disorders": "Signs and symptoms of the disorders mentioned below can be similar to those of FSASD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a FSASD may be suspected based upon identification of characteristic signs and symptoms and by performing a thorough clinical evaluation, a detailed patient history (including family history) and specialized tests that detect elevated levels of free sialic acid in certain cells and tissues or in urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79204", "name_zh": "脂质贮积症", "Name": "Lysosomal Storage Disorders", "disease_name": "Lysosomal Storage Disorders", "synonyms": "", "disease-overview": "Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases.", "symptoms": "Although the signs and symptoms vary from disease to disease in this group, symptoms occur in each case because of an enzyme deficiency that inhibits the ability of the lysosomes present in each of the body’s cells to perform their normal function.  The lysosomes function as the primary digestive units within cells.  Their function is to break down complex components into simpler ones.  Each cell has hundreds of lysosomes that degrade complex cellular components such as proteins (substrates) into simpler components.  When this process does not take place, the substrate begins to accumulate in the cells.  That is why these diseases are called storage diseases.  The symptoms of lysosomal storage disorders are generally progressive over a period of time.", "causes": "In each case, lysosomal storage diseases are caused by an inborn error of metabolism that results in the absence or deficiency of an enzyme, leading to the inappropriate storage of material in various cells of the body.  Most lysosomal storage disorders are inherited in an autosomal recessive manner.", "affected": "As a group, lysosomal storage diseases are believed to have an estimated frequency of about one in every 5,000 live births.  Although the individual diseases are rare, the group together affects many people around the world.  Some of the diseases have a higher incidence in certain populations.  For instance, Gaucher and Tay-Sachs diseases are more prevalent among the Ashkenazi Jewish population.  A mutation associated with Hurler syndrome is known to occur more frequently among Scandinavian and Russian peoples.", "related-disorders": "", "diagnosis": "Prenatal diagnosis is possible for all lysosomal storage disorders. Early detection of lysosomal storage diseases, whether before birth or as soon as possible afterward, is important because when therapies are available, either for the disease itself or for associated symptoms, they may significantly limit the long-term course and impact of the disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98757", "name_zh": "脊髓小脑共济失调3型", "Name": "Spinocerebellar ataxia type 3", "disease_name": "Machado-Joseph Disease", "synonyms": "Autosomal Dominant Spinocerebellar Degeneration", "disease-overview": "Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood.", "symptoms": "The symptoms of MJD Type I present between the ages of 10 and 30 years and progress rapidly. They may include severe weakness in the arms and legs (dystonia), spasticity or muscle rigidity, (hypertonia), awkward body movements (ataxia) often involving a slow, staggering, lurching gait (athetosis) that may be mistaken for drunkenness, slurred speech and swallowing (dysarthria), and possible damage to the muscles that control eye movements (ophthalmoplegia) and bulging eyes (exophthalmia).  Mental alertness and intellectual capacities are unaffected.", "causes": "The gene responsible for MJD has been identified and mapped to Gene Map Locus; 14q24.3-q31.  This gene is associated with an abnormal number of CAG trinucleotide repeats (sometimes called triplets) in the DNA.  (CAG refers to the Cytosine-Adenine-Guanine trinucleotide structure.) Normal DNA usually has between 12 and 43 copies of the CAG trinucleotide.  In persons with the disease, the DNA contains from 56-86 copies of this trinucleotide.  Severity of symptoms and age of onset are related directly to the number of the repeats.  Thus, MJD-I will have fewer of these triplets while MJD-III will have the greater number.  The number of the CAG triplets found in the DNA of patients with MJD-II lies between the two extremes.", "affected": "MJD is a rare inherited neurological disorder that disproportionately affects individuals of Portuguese descent, especially those from the Azores, an island colonized by Portuguese people.  MJD appears to affect slightly more males than females.", "related-disorders": "Symptoms of the following disorders can be similar to those of Machado-Joseph Disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hallervorden-Spatz Disease is a rare inherited disorder characterized by neurological degeneration.  Symptoms may include slow, steady muscle contractions of the arms, legs, neck, face, mouth, or trunk.  Other symptoms may include muscle spasms, slurred speech (dysarthria), mental retardation, impaired speech (dysphasia), and the loss of muscle mass (amyotrophy).  (For more information on this disorder choose Hallervorden-Spatz as your search term on the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:156207", "name_zh": "巨舌症", "Name": "Macroglossia", "disease_name": "Macroglossia", "synonyms": "Enlarged Tongue", "disease-overview": "Macroglossia is the abnormal enlargement of the tongue. In rare cases, macroglossia occurs as an isolated finding that is present at birth (congenital). In many cases, macroglossia may occur secondary to a primary disorder that may be either congenital (e.g., Down syndrome or Beckwith-Wiedemann syndrome) or acquired (e.g., as a result of trauma or malignancy). Symptoms and physical findings associated with macroglossia may include noisy, high-pitched breathing (stridor), snoring, and/or feeding difficulties. In some cases, the tongue may protrude from the mouth. When inherited, macroglossia is transmitted as an autosomal dominant genetic trait.", "symptoms": "Macroglossia is a disorder characterized by a tongue that is large in proportion to other structures in the mouth.  In the congenital type of the disorder, protrusion of the tongue from the mouth may interfere with feeding of the infant.  Later, talking may be affected.  The large size of the tongue may also cause abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth.  Ulceration and dying tissue on the tip of the tongue may be other symptoms of the disorder.", "causes": "Macroglossia may be found in individuals affected by certain inherited or congenital disorders including Beckwith-Wiedemann syndrome, acromegaly, primary amyloidosis, congenital hypothyroidism, Down syndrome, Apert syndrome, and many others.", "affected": "Isolated autosomal dominant macroglossia is very rare, with about 50 cases reported in the medical literature.  The prevalence in other instances depends on the underlying disorder for which the macroglossia is secondary.  For example, macroglossia occurs in most cases of Beckwith-Wiedemann syndrome, and the prevalence of that syndrome is estimated at 1 in 17,000 births.", "related-disorders": "Macroglossia may be an early sign of Acromegaly.", "diagnosis": "Infants born with isolated autosomal dominant macroglossia present with the obvious sign at birth. A family history and physical exam can confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2398", "name_zh": "多发对称性脂肪瘤病", "Name": "Multiple symmetric lipomatosis", "disease_name": "Madelung Disease", "synonyms": "benign symmetrical lipomatosis (BSL)", "disease-overview": "", "symptoms": "Madelung’s disease is characterized by the presence of fatty tumors (lipomas) located symmetrically around the neck, shoulders, trunk, hips, upper arms and thighs. While these abnormal fatty tumors may grow over the course of months to years, the disease usually has a rapid progression at first and then slows down as the size of the fatty mass stabilizes. The rest of the body may be lean in contrast to the affected parts.", "causes": "The exact cause of Madelung’s disease is not fully understood. The body’s inability to properly metabolize fat indicates that it may be an endocrine disorder. One theory is that a defect in the adrenergic (epinephrine or norepinephrine)-stimulated fat breakdown (lipolysis) process results in improper deposition of fat. Alcohol can also negatively impact the enzymatic processes in mitochondria (energy-supplying part of the cell) and can alter adrenergic lipolysis in the body. Radial red fibers in the muscles of Madelung’s patients have often been found, indicating a sign of impaired mitochondrial respiratory chain function. Some researchers have noted that the distribution and type of fat cells in the fatty tumors is similar to the brown fat found in infants. Linking this to the theory, one study suggested that the fatty tumors formed in Madelung’s disease result from impaired mitochondrial regulation in the brown fat, causing increased division of fat cells (adipocyte hyperplasia). While current research suggests adrenergic pathways and mitochondrial dysfunction to be implicated in Madelung’s disease, a clear picture of the pathogenesis is yet to be determined.", "affected": "Madelung’s disease most frequently affects males between 30-70 years of age. The condition is most common in people who consume excessive amounts of alcohol (especially red wine), for a long period of time. However, this disease has also been diagnosed in females and persons who do not consume alcohol. For reasons that are unclear, the disorder appears to be more prevalent in Mediterranean and European population as compared to North American and Asian population.", "related-disorders": "The differential diagnosis for Madelung’s disease includes lipomas, liposarcoma, lymphatic tumor, sialadenitis, neurofibromatosis, drug-induced lipomatosis (steroidal and antiretroviral drugs), angiolipoma and hibernoma. Some of these diseases are briefly described below:", "diagnosis": "The diagnosis of Madelung’s disease is based on a good clinical history, careful assessment of the appearance of the patient and imaging tests such as ultrasound, computerized tomography (CT)-scan or magnetic resonance imaging (MRI). Imaging tests can allow physicians to recognize the extent of fat deposition in the affected areas, appreciate compression of deeper structures and assess the presence of blood vessels in the fatty tumors. Imaging tests can also help rule out other diagnoses and provide insight for pre-operative surgical planning. Most patients come in with a complaint about their appearance due to the cosmetic deformity associated with Madelung’s disease. The diagnosis can be challenging in cases where the patient is obese from other factors (sedentary lifestyle, poor diet, etc.).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163634", "name_zh": "Maffucci 综合征", "Name": "Maffucci syndrome", "disease_name": "Maffucci Syndrome", "synonyms": "", "disease-overview": "Maffucci syndrome is an extremely rare disorder characterized by benign cartilage overgrowths (enchondromas), skeletal deformities and cutaneous lesions composed of abnormal blood vessels. Enchondromas arise in bones, most frequently in the hands and feet, and less often in the legs and long bones of the arm.", "symptoms": "Maffucci syndrome is not recognizable at birth. Lesions usually develop early in childhood, most often between 1-5 years of age. The severity of the disorder is variable. Some patients have a very benign course, whereas others develop serious complications.", "causes": "In 2011, the cause of Maffucci syndrome was discovered to be a change (variant or mutation) in a gene known as IDH1 (rarely IDH2). The same gene variants are found in the related disorder Ollier disease. Since the variant occurs after fertilization (called a somatic mutation), Maffucci syndrome is not thought to be hereditary, that is, it cannot be passed along in a family. The cases occur randomly and there are no known families with multiple affected family members.", "affected": "Maffucci syndrome occurs in all ethnic groups and equally affects males and females.", "related-disorders": "The following disorders can look similar to Maffucci syndrome; however, they usually can be differentiated by clinical examination.", "diagnosis": "The diagnosis of Maffucci syndrome is made by a detailed history, thorough physical examination and radiologic assessment. Surgical removal and microscopic study of the skeletal lesions confirm the presence of enchondroma and distinguish the tumor from chondrosarcoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:210272", "name_zh": "上岸综合征", "Name": "Mal de Debarquemen", "disease_name": "Mal de Debarquemen", "synonyms": "MDD", "disease-overview": "Mal de debarquement (MDD) is a rare and poorly understood disorder of the vestibular system that results in a phantom perception of self- motion typically described as rocking, bobbing or swaying. The symptoms tend to be exacerbated when a patient is not moving, for example, when sleeping or standing still. Studies have shown that a brief period of these symptoms is common in healthy individuals after prolonged episodes of passive motion, normally lasting seconds to three days. However, in MDD, significant balance impairment can persist for months to years. Symptoms may diminish in time or may reappear spontaneously or after another exposure. The most common triggers are water-based activities such as ocean cruising. Less common triggers include airplane travel, extended landing travel and sleeping on water beds. Other common complaints of patients with MDD include a sensation of uneven ground below their feet while walking, or feeling as if they are still on a boat. It is rare for MDD patients to have true rotational vertigo or motion sickness.", "symptoms": "The primary symptom is the persistence of a sense of motion and rocking. Some patients may experience fatigue, mood changes and confusion. Imbalance is a common complaint. Symptoms often increase when exposed to fast movements, flickering lights and grocery store aisles. There may be transient improvement in symptoms with re-exposure to passive motion, for example, riding in cars or trains. After completion of the trip, however, the symptoms tend to recur.", "causes": "The true cause behind MDD is still unknown. MDD likely results from the body’s balance system inadequately processing and adapting to multiple sensory inputs (visual, vestibular, proprioceptive and cognitive) from the environment once the stimulus (trigger) has ended. It is as yet undetermined as to the cause of the balance system’s inability to appropriately compensate and adapt. How or why this happens remains a mystery.", "affected": "The majority of people affected are adult females, although there have been reports of males having the diagnosis. Patients with migraine may have any increased susceptibility through unknown mechanisms.", "related-disorders": "Benign paroxysmal positional vertigo (BPPV) is a common cause of dizziness, especially among the elderly. It comes about as a result of a movement of the head. Under normal conditions, calcium particles are attached to a specific location within the inner ear. As a result of injury or degeneration, these calcium particles clump together causing a sudden and brief episode of dizziness. (For more information on this disorder, choose BPPV as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of MDD still remains mostly clinical. As such, the history is very important. Persistent dizziness after an ocean cruise, a sailing trip, a prolonged airplane flight or a cross-country road trip is highly suggestive of MDD. Vestibular function tests in patients with MDD have been normal or nonspecific in their abnormality. These tests are important in excluding other etiologies for the patient’s symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:420179", "name_zh": "Malan过度生长综合征", "Name": "Malan Syndrome", "disease_name": "Malan Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "Symptoms of Malan syndrome generally appear in infancy. Most symptoms are related to a child’s size or developmental milestones. Malan syndrome is reported to have variable expressivity. Variable expressivity means that there is a range of symptoms that can occur in people affected with the same genetic condition.", "causes": "Malan syndrome is caused by genetic changes (pathogenic variants) in the nuclear factor I X (NFIX) gene. Genes are the body’s instruction manual for creating proteins that play critical roles in how the body grows and develops properly. When a pathogenic variant in a gene occurs, it causes the protein to stop working. Depending on the function of the protein, it can affect many parts of the body. The NFIX gene encodes for a transcription factor and is important for brain, muscle, and bone development and differentiation. Transcription factors turn specific genes ‘on’ and ‘off’ in the body. Pathogenic variants in the NFIX gene cause this transcription factor to be partially unavailable for the body to use (haploinsufficiency), and as a result, other genes in the body do not know when to properly turn ‘on’ or ‘off.’ The transcription factor is needed for normal development, and when not working properly leads to the signs and symptoms of Malan syndrome. Malan syndrome can also be caused by microdeletions in the region of chromosome 19 where the NFIX gene is located (19p13.2).", "affected": "There are approximately 300 individuals worldwide who have a diagnosis of Malan syndrome, making this an exceptionally rare diagnosis. Malan syndrome affects males and females equally and does not occur more frequently in any specific ethnic group. As of 2023, the oldest person living with Malan syndrome is 60 years old.", "related-disorders": "Symptoms of the following genetic disorders can be similar to those of Malan syndrome.", "diagnosis": "A thorough evaluation by a clinical geneticist is necessary to accurately diagnose Malan syndrome. Genetic testing is the primary method of diagnosis. Exome or NFIX sanger sequencing can be used to read the letters of the genetic code to look for pathogenic changes in the NFIX gene. Another genetic test that may be ordered is a chromosome microarray, which is a test that looks for extra or missing pieces of the genetic code. Individuals who have a partial or completely missing copy of the NFIX gene are also affected with Malan syndrome.", "therapies": "There currently is no cure for Malan syndrome and treatment is focused on the management of the medical problems that are present. Treatment and management is often coordinated by a neurologist. Seizures can be treated with antiepileptic drugs."}
{"OrphaCode": "ORPHA:673", "name_zh": "疟疾", "Name": "Malaria", "disease_name": "Malaria", "synonyms": "Acute Malaria", "disease-overview": "Malaria is a communicable parasitic disorder spread through the bite of the Anopheles mosquito. Major symptoms may vary depending on which species of parasite causes the infection and the stage of development of the parasite. Chills and fever commonly occur, although not every case follows the same pattern.  Although the disorder was once thought to be under control throughout the world, malaria is a widespread infection especially in the tropics where certain types of mosquitos are becoming resistant to pesticides. The annual number of cases reported in the United States has increased in recent years.", "symptoms": "Symptoms of malaria vary depending on which of the four parasite species is the cause.  Severity of symptoms may differ as the parasite goes through three different stages of development in humans.  It is possible to contract more than one kind of malaria at a time.  Symptoms may begin a week after exposure to the mosquito or may show up months later, even with preventive treatment.", "causes": "Malaria is most commonly transmitted through the bite of the female Anopheles mosquito which is infected by a malaria parasite (Plasmodium).  Plasmodium Falciparum, Plasmodium Ovale, Plasmodium Malariae and Plasmodium Vivax are the four species of the parasite which can affect humans.  Additionally, transfusion of blood from an infected donor, or sharing contaminated needles may transmit the infection from one person to another.  In very rare cases, the disorder has been transmitted from an infected mother to a fetus.", "affected": "According to the Centers for Disease Control and Prevention (CDC) in Atlanta, malaria is uncommon in the United States where approximately 1,200 cases are diagnosed each year, usually having been contracted abroad.  In the United States, malaria results in two to five deaths, on the average, each year.  Most cases in the U.S. occur among travelers, immigrants, and refugees.", "related-disorders": "Symptoms of the following disorders can be similar to those of malaria. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. It is believed that the Babesia protozoa are usually carried and transmitted by ticks (vectors). Babesiosis occurs primarily in animals; however, in rare cases, babesiosis infection may occur in humans. Certain Babesia species are known to cause babesiosis infection in humans (e.g., Babesia microti), and the deer tick is a known vector. Human babesiosis infection may cause fever, chills, headache, nausea, vomiting, and/or muscle aches (myalgia). Symptoms may be mild in otherwise healthy people; in addition, some infected individuals may exhibit no symptoms (asymptomatic). However, a severe form of babesiosis, which may be life-threatening if untreated, may occur in individuals who have had their spleens removed (splenectomized) or who have an impaired immune system. A different form of babesiosis has been reported in Europe that is associated with a more severe expression of symptoms. (For more information on this disorder, choose Babesiosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:466650", "name_zh": "运动诱发的恶性高热", "Name": "Malignant Hyperthermia", "disease_name": "Malignant Hyperthermia", "synonyms": "Hyperpyrexia", "disease-overview": "Malignant hyperthermia (MH) is a dominantly inherited disorder of skeletal muscle that predisposes susceptible individuals to a life threatening adverse reaction (fulminant MH event) upon exposure to potent volatile anesthetics (halothane, isoflurane, sevoflurane, desflurane, etc.) and the skeletal muscle relaxant succinylcholine.", "symptoms": "A fulminant MH episode is characterized by hypermetabolism that produces heat (hypethermia), increased oxygen uptake, and carbon dioxide production, along with hyperkalemia, and acidosis with hyperlacactemia.  Skeletal muscle rigidity may either be localized to the masseter muscle or generalized.  Muscle damage is reflected by increases in serum creatine kinase, potassium, calcium, and phosphate.  Rhabdomyolysis with myoglobinuria and myoglobinemia often occurs.  The time of onset after induction of general anesthesia may vary from minutes to hours, and patients may have had previously uneventful exposure to anesthetics.", "causes": "The MH phenotype is inherited as an autosomal-dominant trait with incomplete penetrance and variable expression.  Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease.  The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.  The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy.  The risk is the same for males and females.", "affected": "The incidence of MH during general anesthesia is estimated at 1/4,200 (suspicion of MH) to 1/250,000 (fulminant MH). Published reports probably underestimate the true incidence because of the difficulty in defining mild MH events.  In the past decade, two independent studies have estimated the incidence of RYR1 variants in the general population as 1 in 2,000 to 1 in 3,000 persons.   More recent exome studies suggest that the frequency of RYR1 variants may be higher than that.6", "related-disorders": "MH has been associated with other myopathies such as central core disease (CCD), multiminicore disease (MMD), and nemaline rod myopathy, as well as exertional rhabdomyolysis (ER) and exertional heat illness (EHI).", "diagnosis": "Many individuals with MH are otherwise unaffected. Thus, identifying these individuals before they are given general anesthesia is difficult. Family history of the disorder is important, as is the history of any adverse metabolic responses to anesthesia. Definitive diagnosis of MH susceptibility is made by in vitro contracture test performed on biopsied leg muscle. These tests are based on the differential contractile response of normal and MH muscle to halothane and caffeine. In North America, the test is the caffeine halothane contracture test (CHCT), and in Europe the test is the in vitro contracture test (IVCT). Both tests are invasive, requiring a muscle biopsy, and can only be performed in specialized MH diagnostic centers.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2457", "name_zh": "下颌骨肢端发育异常", "Name": "Mandibuloacral dysplasia", "disease_name": "Mandibuloacral Dysplasia", "synonyms": "", "disease-overview": "", "symptoms": "The signs and symptoms of mandibuloacral dysplasia can vary from one person to another. The age of onset of certain symptoms can vary as well. Children with mandibuloacral dysplasia type A often develop normally for the first 4 to 5 years of life. Children with mandibuloacral dysplasia type B can develop noticeable symptoms of the disorder by the age of 2. Mandibuloacral dysplasia type B has only been described in a handful of children. Common symptoms associated with both forms of the disorder have been characterized, but, because of the low number of identified cases, it is difficult to get an accurate picture of associated symptoms and prognosis.", "causes": "Mandibuloacral dysplasia type A is caused by mutations of the LMNA gene; type B is caused by mutations of the ZMPSTE24 gene. Some individuals with mandibuloacral dysplasia do not have mutations of either gene    suggesting that additional, as-yet-unidentified genes may also cause the disorder.", "affected": "Approximately 40 cases of mandibuloacral dysplasia have been reported in the medical literature. Fewer than 10 cases of mandibuloacral dysplasia type B have been reported in the medical literature. Many cases of the disorder most likely go misdiagnosed or undiagnosed, making it difficult to determine the true frequency of mandibuloacral dysplasia in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of mandibuloacral dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of mandibuloacral dysplasia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:52416", "name_zh": "套细胞淋巴瘤", "Name": "Mantle Cell Lymphoma", "disease_name": "Mantle Cell Lymphoma", "synonyms": "", "disease-overview": "", "symptoms": "Many individuals with mantle cell lymphoma may not have symptoms (asymptomatic) during early stages of the disease. However, affected individuals may eventually seek medical attention due to persistent, usually painless, swelling of certain lymph nodes, particularly nodes within the neck and throat region (e.g., Waldeyer’s ring). Waldeyer’s ring consists of the protective ring of lymphoid tissues near the base of the tongue (lingual tonsils); on either side of the throat (palantine tonsils); and near the back opening of the nasal cavity (pharyngeal tonsils or adenoids). Individuals with non-Hodgkin’s lymphomas (NHLs), including MCL, may also have enlargement of other lymph nodes, such as nodes at the elbows or shoulders; under the arms (axillae); in the chest, abdominal, and/or pelvic regions; and/or in other areas. Lymph node enlargement may be confined to a single region or be present in various areas of the body.", "causes": "The exact underlying cause of mantle cell lymphoma is unknown. As with numerous types of cancer, there are many possible factors that may contribute to its development. These factors include genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation [carcinogens]; certain viral infections; etc.), diet, stress and others. Current investigations are researching the possibility of an association between family history, inflammation, infection and the development of MCL.", "affected": "Mantle cell lymphoma is an uncommon form of non-Hodgkin’s lymphoma (NHL), accounting for 5% to 7% of all cases of NHL. Approximately one out of 200,000 individuals is diagnosed each year with MCL. The disease primarily affects older adults, with males representing approximately three-quarters of those with MCL. Many affected individuals are diagnosed at approximately 60 to 70 years old. Reports suggest that most individuals with MCL have advanced (i.e., stage III or stage IV) disease at diagnosis.", "related-disorders": "Symptoms of the following conditions may be similar to those of mantle cell lymphoma (MCL). Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hodgkin’s disease and non-Hodgkin’s lymphoma (NHL) are the two major types of cancer affecting the lymphatic system (lymphoma). In contrast to NHL, Hodgkin’s disease is typically characterized by the presence of a specific type of cancer cell known as a Reed-Sternberg cell that has more than one nucleus. The disease is categorized into several subtypes according to certain features of affected lymphatic tissue as seen under a microscope (microscopic examination), such as relative number of Reed-Sternberg cells, proportion of other types of white blood cells, certain tissue changes, etc. (For further information, choose Hodgkin as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:511", "name_zh": "枫糖尿病", "Name": "Maple syrup urine disease", "disease_name": "Maple Syrup Urine Disease", "synonyms": "BCKD Deficiency", "disease-overview": "", "symptoms": "The symptoms and severity of MSUD varies greatly from patient to patient and largely depends upon the amount of residual enzyme activity.", "causes": "MSUD is caused by changes (mutations) in one of three different genes: BCKDHA, BCKDHB and DBT. Mutations in these genes result in absent or decreased activity of human branched-chain alpha-ketoacid dehydrogenase complex (BCKAD) enzymes. These enzymes are responsible for breaking down the branched chain amino acids leucine, isoleucine, and valine that are in all proteins. Accumulation of these amino acids and their toxic byproducts (ketoacids) results in the serious health problems associated with MSUD. The toxicity of these amino acids is restricted to leucine; indeed, extra valine and isoleucine are often given during treatment. Accumulation of their respective ketoacids results in the metabolic acidosis.", "affected": "The estimated incidence in a general population is 1 in 185,000 live births. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. Due to this founder effect, the disorder occurs with greater frequency among individuals in the Mennonite populations in the United States, where the incidence is estimated to be as high as in 1 in 380. MSUD occurs in the Ashkenazi Jewish population with an incidence estimated at 1:26,000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of MSUD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Many infants with MSUD are identified through newborn screening programs. Tandem mass spectrometry, an advanced newborn screening test that screens for more than 40 different disorders through one blood sample, has aided in the diagnosis of MSUD. As with all inborn errors, Infants with mild or intermittent forms of the disorder may have totally normal blood metabolites after birth and thus can be missed by newborn screening.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91412", "name_zh": "Marcus-Gunn综合征", "Name": "Marcus-Gunn syndrome", "disease_name": "Marcus Gunn Phenomenon", "synonyms": "Marcus Gunn (Jaw-Winking) Syndrome", "disease-overview": "Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.", "symptoms": "In most patients with Marcus Gunn phenomenon, the upper eyelid of one eye (unilateral) droops (blepharoptosis).  The major symptom of this disorder is the rapid and involuntary upward movement of the affected eyelid after almost any movement of the lower jaw.  As a result, that eye appears to open even wider.  This first becomes apparent soon after birth, especially during feeding and sucking. These activities cause the eyelid to move up and down.  A few cases have been seen in adults.", "causes": "The exact cause of Marcus Gunn phenomenon is not known.  For reasons that are unclear, there is a bad connection between the nerves that stimulate, and the muscles that move, the eyelids and the jaw.  Some clinical researchers believe that about half of the cases of Marcus Gunn phenomenon are genetically determined.  The site and nature of the gene(s) at fault in this disorder are not known, but familial studies indicate that it is transmitted as an autosomal dominant trait.", "affected": "Marcus Gunn phenomenon is a rare genetic disorder present at birth.  It affects males and females in equal numbers.  Approximately 300 cases have been reported in the medical literature.", "related-disorders": "Marcus Gunn Phenomenon may occur in conjunction with certain other eye disorders such as Duane Syndrome, or possibly Retinitis Pigmentosa.  (For more information on these disorders, choose Duane, or Retinitis Pigmentosa as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis is obvious and is often made by one or both of the parents who become aware of the major symptom during feeding.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2461", "name_zh": "Marden-Walker综合征", "Name": "Marden Walker Syndrome", "disease_name": "Marden Walker Syndrome", "synonyms": "Connective Tissue Disorder, Marden-Walker Type", "disease-overview": "Marden-Walker syndrome is a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct facial expression, a cleft or high-arched palate, small or receding jaw (micrognathia), bone joints in a fixed position, growth delay and limited control of muscle movement. Marden-Walker syndrome affects males more often than females.", "symptoms": "Patients with Marden-Walker syndrome have distinct facial features including an abnormality of the jaw, droopy eyelids, a flat bridge of the nose, low-set ears, and a fixed facial position.", "causes": "Marden-Walker syndrome is inherited as an autosomal recessive trait.  The exact genetic malfunction is not yet established but some clinicians believe a single gene defect may be responsible.", "affected": "Marden-Walker Syndrome is a very rare disorder that affects males more often than females with a ratio of 11 to 3.  There have been approximately twenty cases reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Marden-Walker syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Van den Ende-Gupta syndrome (VDEGS) is a Marden-Walker-like disorder in which many of the skeletal symptoms of Marden-Walker syndrome are present.  (For more information on this disorder, see the Online Mendelian Inheritance in Man or OMIM database, entry 600920.)", "therapies": "Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:558", "name_zh": "马方综合征", "Name": "Marfan syndrome", "disease_name": "Marfan Syndrome", "synonyms": "MFS", "disease-overview": "Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus deformity), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and tear (dissection) of the main artery that carries blood away from the heart (aorta), floppiness of the mitral valve (mitral valve prolapse) and backward flow of blood through the aortic and mitral valves (aortic and mitral regurgitation). The specific symptoms and the severity of Marfan syndrome vary greatly from person to person. Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition. Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan syndrome.", "symptoms": "The specific symptoms of Marfan syndrome vary greatly from person to person. Some individuals will develop only a few mild or isolated symptoms; others will develop more serious complications. In most cases, Marfan syndrome progresses as individuals grow older. In some infants, Marfan syndrome may cause severe, rapidly progressive complications during infancy, often quickly affecting multiple organ systems early in life. Marfan syndrome can potentially affect many systems of the body including the heart, blood vessels, skeleton, eyes, lungs, and skin.", "causes": "Marfan syndrome is caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops Marfan syndrome. Some changes do not alter the function of the gene or protein and therefore do not cause a medical problem. Other changes in the FBN1 gene can cause conditions that are distinct from Marfan syndrome.", "affected": "Marfan syndrome affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. The prevalence has been estimated to be 1 in 5-10,000 individuals in the general population. Because of the difficulty in diagnosing mild cases of Marfan syndrome, the disorder is probably underdiagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Marfan syndrome. Comparisons are essential to arrive at a correct diagnosis.", "diagnosis": "No universal, specific diagnostic test exists for Marfan syndrome despite the identification of the causative gene. A diagnosis is made based upon a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized tests performed to identify key findings associated with Marfan syndrome. Different criteria have been proposed for classifying someone as having Marfan syndrome. The most recent published criteria (the revised Ghent nosology) were published in 2010. According to these guidelines, the presence of aortic root aneurysm, eye lens dislocation, or a family history of definite Marfan syndrome weigh heavily in the diagnosis of Marfan syndrome, with an additional potential contribution of other findings throughout the body. Molecular testing (e.g. looking for a mutation in the FBN1 gene) can aid in the diagnosis of Marfan syndrome, but identifying a mutation is not sufficient to establish the diagnosis in the absence of sufficient physical findings or family history.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:559", "name_zh": "Marinesco-Sj÷gren综合征", "Name": "Marinesco-Sjögren Syndrome", "disease_name": "Marinesco-Sjögren Syndrome", "synonyms": "Garland-Moorhouse syndrome", "disease-overview": "Marinesco-Sjögren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypotonia), and progressive muscle weakness. Many affected individuals exhibit additional physical abnormalities. Although Marinesco-Sjögren syndrome can be associated with significant disability, lifespan is often unaffected. Marinesco-Sjögren syndrome is caused by mutations of the SIL1 gene and at least one other, presently unknown, gene.", "symptoms": "Some symptoms of Marinesco-Sjögren syndrome are often present at birth (congenital) including diminished muscle tone (hypotonia), a condition sometimes referred to as floppy baby. Cataracts can also be present at birth, but more often develop rapidly during early childhood. Cataracts occur when the lenses of the eyes become clouded preventing light from being focused onto the retina and thereby affecting vision. In most cases, cataracts affect both eyes (bilateral).", "causes": "Marinesco-Sjögren syndrome is often caused by mutation of the SIL1 gene. It is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Marinesco-Sjögren syndrome affects males and females in equal numbers. More than 200 cases have been reported in the medical literature. The exact incidence of the disorder in the general population is unknown. Marinesco-Sjögren syndrome can affect all ethnic groups (panethnic), but most cases have occurred in isolated populations in rural areas.", "related-disorders": "Symptoms of the following disorders can be similar to those of Marinesco-Sjögren syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Marinesco-Sjögren syndrome may be suspected based upon the identification of characteristic findings. A diagnosis can be confirmed by a thorough clinical evaluation, a detailed patient history and a variety of specialized tests including an eye (ophthalmologic) exam to detect cataracts and magnetic resonance imaging (MRI) to detect characteristic changes in the brain (e.g., cerebellar atrophy). Imaging studies of muscle may show significant damage to muscle tissue and the abnormal accumulation of fat and connective tissue.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:560", "name_zh": "marshall综合征", "Name": "Marshall Syndrome", "disease_name": "Marshall Syndrome", "synonyms": "deafness-myopia-cataract-saddle nose, Marshall type", "disease-overview": "Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.", "symptoms": "Patients with Marshall Syndrome have a distinctive flat sunken midface with a flattened nasal bridge (saddle nose), nostrils that turn upward, and a wide space between the eyes (hypertelorism). The dome-like upper portion of the skull (calvaria) is thicker than normal and calcium deposits can be found in the skull (cranium).  Frontal sinuses may be absent. Eye defects found in patients with Marshall Syndrome are nearsightedness, a disease of the eye in which the lens loses its clarity (cataract), and a wide space between the eyes making the eyeballs appear to be larger than normal. Hearing loss may range from slight to severe; the distortion of the sound is a consequence of the nerve damage (sensorineural). Other symptoms exhibited by some patients with Marshall Syndrome are: crossed eyes (esotropia), a condition in which the line of vision is higher in one eye than the other (hypertropia), retinal detachment, glaucoma, protruding upper incisors (teeth) and a smaller than normal or missing nasal bone.", "causes": "Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the collagen XI, alpha-1 polypeptide (COL11A1) gene located on chromosome 1p21.1. Typically mutations causing Marshall syndrome are splice site mutations involving base pair insertions or deletions of intron 50.  Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy.", "affected": "Marshall Syndrome affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Marshall syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Congenital spondyloepiphyseal dysplasia is a rare genetic disorder characterized by growth deficiency before birth (prenatally), spinal malformations, and/or abnormalities affecting the eyes. As affected individuals age, growth deficiency eventually results in short stature (dwarfism) due, in part, to a disproportionately short neck and trunk, and a hip deformity in which the thigh bone is angled toward the center of the body (coxa vara). In most cases, affected individuals may have diminished muscle tone (hypotonia), abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), abnormal inward curvature of the spine (lumbar lordosis), and/or unusual protrusion of the breastbone (sternum), a condition known as pectus carinatum. Affected individuals also have abnormalities affecting the eyes including nearsightedness (myopia) and, in approximately 50 percent of cases, detachment of the nerve-rich membrane lining the eye (retina). Congenital spondyloepiphyseal dysplasia is inherited as an autosomal dominant trait, also linked to mutations, deletions, and duplications the COL2A1 gene, with autosomal dominant inheritance. (For more information on this disorder, choose spondyloepiphyseal dysplasia congenita as your search term in the Rare Disease Database.)", "therapies": "Plastic surgery can improve saddle nose in Marshall syndrome. Other surgical procedures are used to remove the lenses of eyes affected by cataracts, after which lens implants are used as replacements. Subsequently, contact lenses may help improve sharpness of vision. Laser techniques are used to loosen any material, such as the cornea or the lens capsule that may adhere to the lens. The use of a hearing aid may be beneficial in some cases. Genetic counseling is recommended for affected individuals and their families. Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:561", "name_zh": "Marshall-Smith综合征", "Name": "Marshall-Smith syndrome", "disease_name": "Marshall-Smith Syndrome", "synonyms": "MSS", "disease-overview": "", "symptoms": "Marshall-Smith syndrome (MSS) is largely characterized with faster than normal bone growth. Due to their taller stature, patients have low muscle tone, muscle weakness, and may experience difficulties in gaining weight. Patients with Marshall-Smith syndrome may also have abdominal hernias (umbilical hernias), intellectual developmental delays, psychomotor delays (slowing down of thought and voluntary movements), and/or breathing difficulties. The breathing difficulties can sound like a high-pitched noisy breath, due to abnormal neck extension, with the tongue blocking the airway. Some traits related to the windpipe of Marshall-Smith syndrome patients include the abnormal development of the leaf-shaped structure in the throat that stops foods and liquids from entering the windpipe. The nasal passages may be smaller, and these patients may have an abnormal larynx with soft cartilage. Patients with Marshall-Smith syndrome typically have a long head with a prominent forehead, prominent eyes, an upturned nose with a low nasal bridge, and excessive hair growth. The patient’s eye whites may appear bluish, and the lower jawbone may be smaller than average. Their fingertips may appear narrow while the rest of the finger may appear broad.", "causes": "There are indications that Marshall-Smith syndrome is caused by a change (mutation) in the NFIX gene. This gene plays an important role in transcription initiation for various genes. In human embryonic development, expression of NFIX can be detected during brain and skeletal development. The most common variant types leading to Marshall Smith syndrome are frameshift and splice site variants. Most individuals with Marshall-Smith syndrome are the first individuals in their families to have this syndrome and as such they are de-novo cases.", "affected": "Marshall-Smith Syndrome is a rare disorder that has only been documented in about 50 individuals worldwide. It appears to affect males and females equally. Symptoms are typically present at birth, such as the previously escribed characteristic facial features.", "related-disorders": "Weaver syndrome is similar to Marshall-Smith syndrome in that growth and bone ages faster than normal, or advanced bone age. Patients with both Weaver and Marshall-Smith syndromes tend to have their growth spurt early in age but will stop growing sooner compared to normal individuals. However, patients with Weaver syndrome are usually overweight, whereas patients with Marshall-Smith syndrome are underweight. There are several other distinguishing physical and behavioral characteristics between Marshall-Smith and Weaver syndrome. (For more information on this condition, search for Weaver in the Rare Disease Database.)", "diagnosis": "Patients with Marshall-Smith syndrome are diagnosed based on clinical findings and symptoms, as well as the use of x-ray exams to identify the skeletal indications. Genetic diagnosis can now be performed by looking for mutations in the NFIX gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98292", "name_zh": "肥大细胞增多症", "Name": "Mastocytosis", "disease_name": "Mastocytosis", "synonyms": "clonal mast cell disease", "disease-overview": "Mastocytosis is a rare disorder characterized by abnormal accumulation and activation of mast cells in the skin, bone marrow and internal organs (liver, spleen, gastrointestinal tract and lymph nodes). Mastocytosis can affect both children and adults. Mastocytosis can be classified to a specific type depending on the patient’s symptoms and overall presentation. Cases beginning during adulthood tend to be chronic and involve the bone marrow in addition to the skin, whereas, during childhood, the condition is often marked by skin manifestations with no internal organ involvement and can often resolve during puberty. In adult patients, mastocytosis tends to be persistent, and may progress into a more advanced category in a minority of patients.", "symptoms": "The severity of the symptoms associated with mastocytosis may vary from mild to life-threatening. In general, symptoms occurring in mastocytosis are mainly due to the release of chemicals from the mast cells and thus produce symptoms associated with an allergic reaction, although a true allergic trigger may not be identified. Flushing and gastric acid hypersecretion due to mast cell-associated histamine release are common symptoms. Heartburn, stomach aches, abdominal discomfort, bloating and diarrhea may occur. The liver, spleen and lymph nodes may become enlarged in advanced disease varieties; therefore regular follow-up is necessary. Bones affected by mastocytosis may become softened (osteoporosis) and deteriorate, although some new bone growth may occur with thickening of the outer portions or spongy inner areas of the bones. In aggressive systemic mastocytosis, a decrease in blood cells (cytopenia), break-down of bones (osteolysis), swelling of the lymph nodes (lymphadenopathy), swelling of the liver (hepatomegaly), impaired liver function, ascites or portal hypertension and malabsorption, may also occur.", "causes": "Genetic alterations (mutations) resulting in the over-activation of the receptor for mast cell growth factor (KIT) have been identified in the abnormal mast cells in almost all patients with adult-onset mastocytosis and in skin lesions of approximately 80% of affected children. The most common KIT mutation in mastocytosis is D816V and is believed to cause the abnormal proliferation and accumulation of mast cells in tissues. Over 90% of adults and 40% of children also express this mutation whereas another 40% of children have mutations involving other areas of the KIT gene. It is not yet clear if the type of KIT mutation in children has value in predicting disease severity. The mutations are present in the body cells (somatic) of affected individuals, but not in egg and sperm cells (germline) in the majority of patients and, therefore, are not passed on to the next generation.", "affected": "Mastocytosis affects males and females in equal numbers. It can begin during childhood or adulthood. Childhood-onset disease most commonly presents within the first year of life.", "related-disorders": "Symptoms of the following disorders can be similar to those of mastocytosis. Comparison may be useful for a differential diagnosis:", "diagnosis": "Inflammatory Bowel Disease", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1019", "name_zh": "Epstein 综合征", "Name": "May Hegglin Anomaly", "disease_name": "May Hegglin Anomaly", "synonyms": "Dohle Leukocyte Inclusions with Giant Platelets", "disease-overview": "May-Hegglin Anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets (giant platelets) and defects of the white blood cells known as leukocytes. The defect of the white blood cells consists of the presence of very small (2-5 micrometers) rods, known as Dohle bodies, in the fluid portion of the cell (cytoplasm). Some people with this disorder may have no symptoms while others may have various bleeding abnormalities. In mild cases, treatment for May-Hegglin Anomaly is not usually necessary. In more severe cases, transfusions of blood platelets may be necessary.", "symptoms": "Some people with May-Hegglin Anomaly may have symptoms at birth while others may have no symptoms throughout their lifetime.  Symptoms may include red or purple colored spots on the skin (purpura), nose bleeds (epitaxis), excessive bleeding from the mouth during dental work, headaches, and/or muscle weakness on one side of the body due to bleeding within the brain (intracranial bleeding).", "causes": "May-Hegglin Anomaly is inherited as an autosomal dominant genetic trait. The gene involved has been mapped to Gene Map Locus 22q11.2, and the protein generated by the gene is known as MYH9.", "affected": "May-Hegglin Anomaly is a rare blood platelet disorder that affects males and females in equal numbers.  It occurs more often in people of Greek or Italian descent than among others.  As of about 10 years ago, only about 170 cases were reported in the literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of May-Hegglin Anomaly.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hemophilia is a rare inherited blood clotting (coagulation) disorder caused by inactive or deficient blood proteins (usually factor VIII).  Factor VIII is one of several proteins that enables the blood to clot.  Hemophilia is found in males almost exclusively and can be classified as mild, moderate, or severe.  The most serious symptom of Hemophilia is uncontrolled internal bleeding that may begin spontaneously without any apparent cause.  Internal bleeding may cause permanent damage to the joints and muscles.  People with Hemophilia bleed for a longer period of time than people who have the normal percentage of active clotting factors in their blood.  Bruises and trauma can trigger episodes of serious internal bleeding in males with this disorder. (For more information on this disorder, choose Hemophilia as your search term in the Rare Disease Database.)", "therapies": "The diagnosis of May-Hegglin Anomaly is made by specialized blood tests that reveal giant, oddly shaped platelets and characteristic cellular inclusions in certain white blood cells (leukocytes). There also might be fewer platelets than normal (mild thrombocytopenia). In severe rare cases, people with May-Hegglin Anomaly may require transfusions of platelets. People with Chediak-Higashi Syndrome, a form of Albinism, have cellular inclusions that are very similar to those of May-Hegglin Anomaly."}
{"OrphaCode": "ORPHA:3109", "name_zh": "MRKH综合征", "Name": "Mayer-Rokitansky-Küster-Hauser syndrome", "disease_name": "Mayer-Rokitansky-Küster-Hauser Syndrome", "synonyms": "congenital absence of the uterus and vagina (CAUV)", "disease-overview": "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder that affects women. It is characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia. Women with this disorder develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). Often, the failure to begin the menstrual cycle is the initial clinical sign of MRKH syndrome. The range and severity of MRKH syndrome can vary greatly and the disorder is generally broken down into type I, which occurs as an isolated finding, and type II, which occurs with abnormalities of additional organ systems including mainly the kidneys and the skeleton. Because of the nature of the disorder, MRKH syndrome can cause significant psychological challenges and counseling is recommended. The exact cause of MRKH syndrome remains largely unknown, but there is now no doubt of a genetic origin. In this respect, an update on the most recent research publications shows the involvement of several chromosomal segments, some of them including genes likely to account for the disorder.", "symptoms": "The symptoms of MRKH syndrome vary greatly from one woman to another. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The exact cause of MRKH syndrome remains largely unknown but ongoing research has begun to provide some clues to its mechanism. Initially, MRKH syndrome was thought to occur randomly (sporadically) due to the involvement of non-genetic or environmental factors such as gestational diabetes or exposure to a teratogen, which is an agent that can disrupt the development of an embryo. No link between an environmental cause and MRKH syndrome has ever been established.", "affected": "MRKH syndrome is estimated to affect 1 in 4,000-5,000 women in the general population. It is the second most common cause of primary amenorrhea. The disorder is thought to be underdiagnosed making it difficult to determine the true frequency of MRKH syndrome in the general population. The disorder is present at birth (congenital) but is often not identified until early adolescence.", "related-disorders": "Symptoms of the following disorders can be similar to those of MRKH syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In most cases, females with MRKH syndrome come to the attention of physicians due to the failure of menstrual cycles to begin during puberty (primary amenorrhea). Some may seek medical attention due to fertility problems. In rare cases, multiple congenital malformations and/or symptoms caused by renal abnormalities may lead to a possible diagnosis of MRKH syndrome type II.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:562", "name_zh": "McCune-Albright综合征", "Name": "McCune-Albright syndrome", "disease_name": "McCune-Albright Syndrome", "synonyms": "Albright syndrome", "disease-overview": "", "symptoms": "The range of severity of McCune-Albright syndrome is broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age. The degree of severity of individual symptoms may also vary greatly. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that every individual case is unique. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "McCune-Albright syndrome is caused by a mutation in a gene called GNAS1. This gene mutation occurs after fertilization of the embryo (somatic mutation) and is therefore not inherited, nor will affected individuals pass the mutation on to their children. Affected individuals have some cells with a normal copy of this gene and some cells with the abnormal gene (mosaic pattern). The variability of symptoms of MAS is due, in part, to the ratio of healthy cells to abnormal cells. Researchers do not know why these somatic mutations occur; they appear to develop randomly for unknown reasons (sporadically).", "affected": "McCune-Albright syndrome affects males and females in equal numbers. Precocious puberty is more common in females. The disorder is estimated to affect 1 in 100,000 to 1 in 1,000,000 individuals in the general population. Because the disorder is difficult to diagnose, affected individuals may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of MAS in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of McCune-Albright syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of McCune-Albright syndrome may be suspected at birth based upon identification of the characteristic skin pigmentations (cafe-au-lait spots). However, in many cases, the disorder may not be suspected until late infancy or childhood when precocious puberty develops or when bone deformities become obvious. A diagnosis may be confirmed based upon characteristic physical findings (i.e., association of characteristic skin, bone, and endocrine abnormalities), a detailed patient history, thorough clinical evaluation, and specialized tests including x-ray studies and blood tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:175", "name_zh": "软骨－毛发发育不全", "Name": "Cartilage-hair hypoplasia", "disease_name": "McKusick Type Metaphyseal Chondrodysplasia", "synonyms": "cartilage-hair hypoplasia", "disease-overview": "", "symptoms": "Unevenly short arms and legs (short limbed dwarfism) are the most common features in McKusick type metaphyseal chondrodysplasia and are seen in almost all affected individuals. Increased inward curvature of the lower spine (lumbar lordosis) and increased side curvature of the rest of the spine (scoliosis) also cause a shorter height in affected individuals. Median height is estimated to be around 4 feet 3 inches in males and 4 feet 0 inches in females. In individuals with the more severe form, anauxetic dysplasia (AD), the median height is less than 2 feet 10 inches.", "causes": "McKusick type metaphyseal chondrodysplasia is caused by changes (variants) in the RMRP gene. More than 90 different disease-causing variants (pathogenic variants) have been reported.", "affected": "McKusick type metaphyseal chondrodysplasia affects both males and females in equal proportions. The disease has been reported in about 700 individuals. The most severe form, anauxetic dysplasia (AD) is rare, and has been reported in less than 10 individuals.", "related-disorders": "Symptoms of the following disorders may be similar to those of McKusick type metaphyseal chondrodysplasia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Shwachman-Diamond syndrome (SDS) is an extremely rare inherited condition that affects around 1: 77,000 newborns. Shwachman Diamond syndrome is characterized by decreased intestinal absorption of nutrients (intestinal malabsorption) and abnormal function of the pancreas (pancreatic insufficiency). The bones of individuals with SDS do not develop normally, especially in their ribs, arms and leg bones (metaphyseal dysostosis). This can lead to shortened height. Individuals with SDS also have thickening of their ribs and connective tissue (costochondral thickening), causing the ribs to be abnormally short. Additionally, decreased bone marrow production leads to decreased blood cell production (pancytopenia) in most affected individuals. Shwachman-Diamond syndrome is inherited in an autosomal recessive pattern and is caused by variants in the SBDS gene. (For more information on this disorder, choose Shwachman as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:59", "name_zh": "Allan-Herndon-Dudley综合征", "Name": "Allan-Herndon-Dudley syndrome", "disease_name": "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency", "synonyms": "AHDS", "disease-overview": "MCT8-specific thyroid hormone cell transporter deficiency (MCT8 deficiency) is a genetic disorder characterized by severe intellectual disability, an impaired ability to speak, low muscle tone (hypotonia), disorganized movements and specific thyroid test abnormalities.", "symptoms": "MCT8 deficiency is primarily characterized by severe intellectual disability, hypotonia and movement abnormalities. As mentioned above, an affected infant typically appears to develop normally (except for hypotonia) until about 2 months of age, when they may seem to have generalized weakness and be unable to hold up their head. Family members have described this feature as limber neck. Due to low muscle tone, weakness, severely reduced motor development and/or other factors, affected children are unable to walk or walk with great difficulty.", "causes": "MCT8 deficiency is caused by a change (pathogenic variant or mutation) in the MCT8 (SLC16A2) gene leading to an altered structure and function of the MCT8 protein. So far, 210 distinct MCT8 gene variants have been identified in patients with MCT8 deficiency. The severity of clinical symptoms can vary depending on the type of gene variant.", "affected": "MCT8 deficiency is a rare inherited disorder that affects mostly males. More than 300 families have been identified with 210 different MCT8 gene variants. The frequency of MCT8 deficiency among people with intellectual disability is not known, though estimated to occur in 1 in 70,000 newborns.", "related-disorders": "Symptoms of the following disorders may be similar to those of MCT8 deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Angelman syndrome (AS) is a rare genetic neurological disorder characterized by severe developmental delays and learning disabilities; the absence or near absence of speech; an inability to coordinate voluntary movements (ataxia) and tremulous, jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling, often at inappropriate times. Additional symptoms may occur in some patients including seizures, sleep disorders and feeding difficulties. Some affected children may have distinctive facial features. AS is caused by deletion of or abnormal expression of the UBE3A gene. Most cases of AS appear to occur spontaneously. (For more information on this disorder, choose Angelman as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79305", "name_zh": "进行性家族性肝内胆汁淤积3型", "Name": "MDR3 Deficiency", "disease_name": "MDR3 Deficiency", "synonyms": "", "disease-overview": "", "symptoms": "The age of onset, severity and specific symptoms of MDR3 deficiency can vary greatly from one person to another. In PFIC3, cholestasis may be present in newborns babies (neonatal period). Individuals with mild forms of this disorder may not develop symptoms until young adulthood or middle age where MDR3 deficiency may manifest as mild abnormalities in liver blood tests, gallstones, jaundice and/or itching during pregnancy, or as scarring of the liver and/or yellowing of the eyes and skin.", "causes": "MDR3 deficiency occurs due to changes called disease-causing variants in the ABCB4 gene.", "affected": "MDR3 deficiency affects males and females in equal numbers. The exact incidence and prevalence of MDR3 deficiency is unknown. Fewer than 500 cases of PFIC3 have been reported in the medical literature. Because milder forms of MDR3 deficiency often go unrecognized or misdiagnosed, it is difficult to determine the disorder’s true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of MDR3 deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of MDR3 deficiency should be suspected in infants and children with evidence of cholestasis and/or chronic liver disease when the gamma-GGT levels in the blood are elevated. A diagnosis may be made based upon a thorough clinical evaluation, a detailed patient history and a variety of tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:564", "name_zh": "Meckel综合征", "Name": "Meckel syndrome", "disease_name": "Meckel Syndrome", "synonyms": "dysencephalia splanchnocystica", "disease-overview": "", "symptoms": "The specific symptoms associated with Meckel syndrome vary greatly from one individual to another. Affected children will not have all of the symptoms detailed below. Central nervous system, pulmonary or kidney abnormalities always result in perinatal death.", "causes": "Meckel syndrome can be caused by changes (mutations) in thirteen genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TCTN3, TMEM67, TMEM107, TMEM216, TMEM231 and TMEM237. Mutations in these 13 genes account for 75 percent of all cases; the remaining 25 percent have unknown genetic causes. Most of these genes are also responsible for a neurological disorder called Joubert syndrome, leading to the concept that Meckel syndrome is the extreme lethal form of Joubert syndrome.", "affected": "Meckel syndrome affects males and females in equal numbers. More than 200 cases have been reported in the medical literature. The incidence of Meckel syndrome is estimated in various areas around the world to be 1 in 13,250 to 1 in 140,000 live births. The disorder is more common in the Finnish population due to a founder effect, with an incidence of 1 in 9000 and 1 in 3,000 people of Belgian ancestry. However, Gujarati Indians have a prevalence of 1 in 1,300. It occurs more frequently in the context of consanguineous unions.", "related-disorders": "Symptoms of the following disorders can be similar to those of Meckel syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Smith-Lemli-Opitz (SLO) syndrome is a rare hereditary developmental disorder characterized multiple abnormalities that are present at birth (congenital). Symptoms may include characteristic facial features, microcephaly, growth restriction, intellectual disability, extra fingers or toes (polydactyly), loss of vision, incomplete development of the male genitalia, short nose with displaced nostrils and a smaller than normal size opening of the stomach (pyloric stenosis). In some patients, brain or heart abnormalities may be present. The specific symptoms associated with each person vary greatly. Smith-Lemli-Optiz syndrome is inherited in an autosomal recessive pattern. (For more information on this disorder, choose Smith-Lemli-Opitz as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1762", "name_zh": "Xq28三体", "Name": "Proximal Xq28 duplication syndrome", "disease_name": "MECP2 Duplication Syndrome", "synonyms": "trisomy Xq28", "disease-overview": "", "symptoms": "MECP2 duplication syndrome is characterized by a wide variety of symptoms. Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes influencing the disorder hamper physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "MECP2 duplication syndrome is caused by a genetic abnormality in which a portion of the X chromosome appears two times on one of the X chromosomes (duplication) instead of once. By definition, the affected region always contains the methyl-CpG-binding protein 2 (MECP2) gene. Most affected children have very small duplications called microduplications, but larger, more complex rearrangements (e.g. translocations) can also cause the disorder. Depending upon the exact size and location of the duplicated area, additional genes are also duplicated. The duplication size is unique to each affected family or individual.", "affected": "The exact incidence and prevalence of MECP2 duplication syndrome in the general population is unknown. Because affected individuals may go undiagnosed or misdiagnosed, determining the disorder’s true frequency in the general population is difficult. Well over 200 individuals have been reported in the medical literature. It has been estimated that approximately 1-2% of unexplained cases of X-linked intellectual disability may be due to MECP2 duplication syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of MECP2 duplication syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of MECP2 duplication syndrome is based upon the identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. It should be included in the differential diagnosis of male infants with hypotonia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:293208", "name_zh": "腹腔动脉压迫综合征", "Name": "Celiac artery compression syndrome", "disease_name": "Median Arcuate Ligament Syndrome", "synonyms": "MALS", "disease-overview": "The median arcuate ligament syndrome (MALS) is a cause of chronic abdominal pain affecting both children and adults alike. Chronic abdominal pain is a very common condition that can have significant negative, long-term psychosocial consequences, including increased risk for anxiety, school and work absences, poor functional capacity, and a poor quality of life. While the exact cause of the pain is unknown, compression of the celiac artery and/or the celiac plexus nerves by the diaphragm can result in pain that is worsened with eating or sometimes with exercise. Other symptoms include nausea and weight loss. In some patients the symptoms can be devastating and can lead to erroneous diagnoses of an eating disorder, psychiatric conditions, or functional abdominal pain (e.g. irritable bowel syndrome, abdominal migraine). The diagnosis is made based on a combination of the clinical symptoms and radiology imaging. There is a surgical procedure that can be performed that is effective in approximately 60-80% of patients.", "symptoms": "Compression of the celiac artery by the median arcuate ligament is a poorly understood vascular compression syndrome involving the celiac artery and celiac nerve plexus that results in upper abdominal pain (frequently made worse with eating), weight loss, nausea and vomiting. Sometimes a doctor may hear a soft whooshing sound with a stethoscope (bruit) over the upper abdomen that may mean there is a vascular blockage. Some patients who are athletes may experience recurrent upper abdominal pain that is brought on by moderate to intense cardiovascular work outs. Additional symptoms associated with the diagnosis, but frequently indicative of other medical problems include palpitations (hearing or feeling your own heartbeat), chest pain, diarrhea, constipation, and difficulty sleeping.", "causes": "The median arcuate ligament is formed by the merging of the right and left attachments of the diaphragm as they cross over the aorta as it enters the abdominal cavity from the chest. The relationship of the ligament to the celiac artery origin determines compression: when the celiac artery comes off the aorta above the diaphragm, this can result in compression; when the celiac artery branches off the aorta below the diaphragm, there is no compression. In a study of 75 autopsies, the median arcuate ligament crossed the celiac artery origin entirely (33%) or partially (48%) in a majority of individuals, resulting in significant celiac artery compression.1", "affected": "The characteristic MALS patient is more likely to be young adult female, which is consistent with demographic characteristics of other chronic abdominal pain (CAP) patients. However, given the wide distribution of celiac artery compression, the syndrome affects both young and old as well as women and men.", "related-disorders": "The signs and symptoms of MALS are vague and overlap with a number of common and uncommon medical diagnoses (table 1).", "diagnosis": "Because there are many patients with celiac artery compression and no symptoms, and because there are many causes for abdominal pain, it is important that patients are evaluated for all possible common causes of abdominal pain before being diagnosed with MALS. (Table 1)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:42", "name_zh": "中链酰基辅酶A脱氢酶缺乏", "Name": "Medium chain acyl-CoA dehydrogenase deficiency", "disease_name": "Medium Chain Acyl CoA Dehydrogenase Deficiency", "synonyms": "MCAD deficiency", "disease-overview": "", "symptoms": "Symptoms of MCADD are metabolic crisis brought about by low blood sugar (hypoglycemia). Because infants are typically weaned from nighttime feedings sometime between 3 and 24 months of age, this is when an infant’s first experience with longer fasting occurs. A previously healthy child with MCADD might suddenly experience severe symptoms at this point. A child could also have symptoms in response to a mild disease like a cold since this can decrease appetite. Alternatively, an individual with a milder form of MCADD might first develop symptoms in adulthood in response to an extreme metabolic stress such as surgery or severe illness. A person with MCADD who never experiences low blood sugar would never develop symptoms of the disease.", "causes": "MCADD is a genetic disorder of mitochondrial fatty acid beta-oxidation. This means that fats in the body cannot efficiently be broken down and used for energy. The body relies on glucose (a sugar) for energy, and during times when the amount of glucose in the blood is too low, the body can break down fat stores and convert them to glucose. Enzymes called acyl-coenzyme A dehydrogenases are necessary for one of the steps in the biochemical pathway by which fat is broken down into glucose. Medium chain acyl-coenzyme A dehydrogenase (MCAD) is one of these enzymes.", "affected": "In the general population, MCADD occurs in approximately 1 in 50,000 individuals. The prevalence of MCADD in people of northern European descent has been estimated to be in the range of 1 in 6,400 to 1 in 46,000 individuals. Gypsies of Portugal and Native Americans of California also have a higher-than-average prevalence.", "related-disorders": "There are no other known disorders caused by variants in the ACADM gene. However, MCADD is in a family of many enzymes that are important in the breakdown of fat for energy. For example, short-, long-, and very long- chain acyl-CoA dehydrogenases. It is possible for any one of these enzymes to be dysfunctional due to gene variants and this could lead to a disorder similar to MCADD. These conditions are known as fatty acid oxidation disorders. Many fatty acid oxidation disorders have symptoms that are similar to MCADD, but they usually also have specific symptoms that help to distinguish them. For example, the additional symptoms of heart problems or lung issues would be more indicative of a deficiency in another type of enzyme, rather than MCADD. (For more information on such alternate disorders, choose Acyl CoA Dehydrogenase as your search term in the Rare Disease Database.)", "diagnosis": "MCADD is usually diagnosed after newborn screening by a blood test. The test measures the amount of chemicals known as acylcarnitines. High levels of a type of acylcarnitine called octanoylcarnitine are characteristic of MCADD, but this is not specific to this disorder. Follow-up testing is needed to confirm the diagnosis. If an infant develops the classic symptoms of MCADD or dies after being otherwise healthy, a diagnosis of MCADD should be considered. This means that vomiting, lethargy and seizures after a period of fasting or a common illness in a previously healthy person would suggest MCADD. Additionally, low blood sugar (hypoketonic hypoglycemia) in response to fasting or illness would be a more measurable sign of the disorder. Genetic testing to identify two disease-causing variants in the ACADM gene can confirm the diagnosis. Genetic counseling is recommended for affected individuals.", "therapies": "Treatments"}
{"OrphaCode": "ORPHA:1309", "name_zh": "髓质海绵肾", "Name": "Medullary sponge kidney", "disease_name": "Medullary Sponge Kidney", "synonyms": "Cacchi-Ricci Disease", "disease-overview": "Medullary Sponge Kidney is a rare disorder characterized by the formation of cystic malformations in the collecting ducts and the tubular structures within the kidneys (tubules) that collect urine. One or both kidneys may be affected. The initial symptoms of this disorder may include blood in the urine (hematuria), calcium stone formation in the kidneys (nephrolithiasis) or infection. The exact cause of Medullary Sponge Kidney is not known.", "symptoms": "The first symptoms of Medullary Sponge Kidney typically blood in the urine, stone formation or signs of a urinary infection such as excessive urination (polyuria) and/or burning and pain while urinating.  In some affected individuals, calcium stones may form in the kidneys (nephrolithiasis).  These stones can cause low back pain in the area of the kidneys (renal colic) and pain in the lower back and lower abdomen.  A prominent feature of Medullary Sponge Kidney is the excretion of small stones with the urinary flow.  The passage of these stones can be profoundly painful.  In a small number of cases, repeated urinary infections and damage to the kidneys may occur if stones become sufficiently large enough to block the flow of urine to the bladder (renal obstruction).", "causes": "The exact cause of Medullary Sponge Kidney is not known and most cases occur sporadically for no apparent reason.  Some cases are thought to run in families (familial) and may be inherited as an autosomal dominant genetic trait.  However, this inheritance pattern has not been proven.  Some studies have suggested there may be a a possible relationship between overactivity of the parathyroid gland (Hyperparathyroidism) and Medullary Sponge Kidney.", "affected": "Medullary Sponge Kidney is a rare disorder that affects slightly more women than men.  It is thought to occur in 1 in 1,000 to 5,000 people in the United States.  Although the symptoms of Medullary Sponge Kidney may begin at any age, they usually develop during adolescence or in adults between the ages of 30 and 50 years.  Approximately 13 percent of all people who develop kidney stones are eventually diagnosed with Medullary Sponge Kidney. Medullary Sponge Kidney may also develop in people with Beckwith-Wiedemann Syndrome.  (For more information on Beckwith-Wiedemann Syndrome, see the related disorders section of this report.)", "related-disorders": "Related Disorders Symptoms of the following disorders can be similar to those of Medullary Sponge Kidney.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Medullary Sponge Kidney is associated with several developmental and genetic disorders including the following conditions.  Comparisons may be useful for a differential diagnosis.", "therapies": "The diagnosis of Medullary Sponge Kidney Disease may be confirmed by a thorough clinical evaluation and specialized X-ray studies (i.e., intravenous urography) that reveal the presence of abnormal widening (dilatation) or stretching of collecting ducts, cyst formations or kidney stones. CT scan (computerized tomography) is another imaging study that is effective in revealing calcifications that may later form kidney stones. In some affected individuals, urinary filtration rates (glomerular) may be measured and found to be reduced."}
{"OrphaCode": "ORPHA:616", "name_zh": "髓母细胞瘤", "Name": "Medulloblastoma", "disease_name": "Medulloblastoma", "synonyms": "primitive neuroectodermal tumor of the posterior fossa", "disease-overview": "Medulloblastoma is the most common malignant brain tumor in children. Medulloblastomas by definition occur in the cerebellum, which is the part of brain located at the base of the skull, just above the brainstem. The cerebellum is involved in many functions including coordination of voluntary movements (e.g., walking, fine motor skills) and regulating balance and posture. Medulloblastomas arise from primitive, undeveloped cells in the brain. Most medulloblastomas occur in infants and children. Less commonly, these tumors can develop in adults as well. Symptoms associated with a medulloblastoma include headaches in the morning that improve as the day goes on, recurrent vomiting and difficulty walking and with balance. Medulloblastomas can spread to other areas of the central nervous system. The exact cause of a medulloblastoma is unknown.", "symptoms": "The specific symptoms associated with a medulloblastoma will vary from one person to another based upon the exact location and size of a medulloblastoma and whether the tumor has spread to other areas. Affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The exact underlying cause of medulloblastoma is unknown. Most cases occur randomly for no apparent reason (sporadically).", "affected": "Medulloblastomas can affect individuals of any age, but occur most often in children under the age of 15 with a peak incidence between 3 and 9 years of age. Medulloblastomas are the most common malignant brain tumor in children. Approximately 80 percent of affected individuals are under the age of 15. Medulloblastomas are extremely rare in adults accounting for 1-2 percent of all cases of brain tumors in adults. In adults, most medulloblastomas occur in individuals between 20-44 years of age. Medulloblastomas are extremely rare in individuals over the age of 45.", "related-disorders": "Symptoms of the following disorders can be similar to those of medulloblastomas. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Medulloblastoma is diagnosed based upon thorough clinical and neurological evaluation, detection of characteristic symptoms and physical findings, patient history, and specialized diagnostic tests. Such studies may include blood tests; evaluation of visual acuity, visual fields, and eye movements; the use of an instrument (ophthalmoscope) that visualizes the inside of the eyes (i.e., to detect papilledema); advanced imaging techniques; and/or other diagnostic tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:228384", "name_zh": "5q14.3微缺失综合征", "Name": "5q14.3 microdeletion syndrome", "disease_name": "MEF2C Deficiency", "synonyms": "5q14.3 microdeletion syndrome", "disease-overview": "", "symptoms": "Typically, there are no distinctive signs during pregnancy or delivery of a child with MEF2C deficiency. The individual seems to develop normally in the neonatal period and it is not until infancy or early childhood when symptoms such as hypotonia, feeding difficulties and poor eye contact appear. Seizures may occur, especially when the baby has an illness or fever. Global developmental delay is found in nearly all MEF2C deficiency patients. There is variety in these developmental delays, specifically with speech, gait, cognitive abilities and social skills. These patients also present with some mild to severe distinctive facial features.", "causes": "MEF2C deficiency is caused by mutations in the MEF2C gene or in the gene’s promoter and enhancer regions, resulting in a lack or total absence of functional MEF2C protein. In most cases, MEF2C deficiency is de novo, meaning it is caused by spontaneous changes in DNA sequence and not inherited from a patient’s parents. The MEF2C gene codes for a transcription factor that is involved in normal development of the heart, brain, craniofacial, vascular (blood flow), and immune systems of the body. The MEF2C enhancer region is widely expressed in glial cells, which are cells that support brain and nervous system cells.", "affected": "MEF2C deficiency appears to equally affect males and females, and it does not seem to have an ethnic predisposition. The age of onset is most commonly in infancy or early childhood. MEF2C deficiency is often misdiagnosed as Rett syndrome due to its Rett-like phenotype. There have been around 50 patients identified with MEF2C deficiency, but this number should likely be larger due to misdiagnosis of subtle symptoms that present similarly to other more well-known disorders.", "related-disorders": "MEF2C deficiency has clinical overlap with Rett Syndrome, Angelman Syndrome, Pitt-Hopkins syndrome, and CDKL5 deficiency disorder. Often, these syndromes are grouped under the term Rett-like, but using this term has recently been discouraged because these syndromes are now recognized as clinically different from each other. Symptoms of the following disorders can be similar to those of MEF2C deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Hypotonia and epilepsy are symptoms that may lead to a suspicion of MEF2C deficiency.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:60040", "name_zh": "巨脑-毛细血管畸形-多小脑回综合征", "Name": "Megalencephaly-Capillary Malformation", "disease_name": "Megalencephaly-Capillary Malformation", "synonyms": "macrocephaly-capillary malformation", "disease-overview": "", "symptoms": "The symptoms and severity of MCAP vary greatly from one person to another. Some individuals may develop milder symptoms, while others have more serious complications and it is important to note that affected individuals may not have all of the symptoms discussed below. Families of affected children should talk to their physician and medical team about their specific features, associated symptoms and discuss their medical management and overall prognosis.", "causes": "Most cases of MCAP are caused by variants in the PIK3CA gene. Most of the identified variants are not inherited, but occur in a fraction of cells as the baby develops (I.e., post-zygotic mutations). While there are reports of family members with large heads (or megalencephaly), recurrence in family members (e.g., siblings or parents) with MCAP have been reported in the medical literature. Advanced paternal age has been noted in some patients but this association is not proven.", "affected": "The exact incidence of macrocephaly-capillary malformation is unknown. Since its first description as a distinct entity in 1997, more than 200 affected individuals have been reported. Some patients may go unrecognized or misdiagnosed making it difficult to determine the true frequency of MCAP in the general population. Males and females appear to be affected in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of MCAP syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of macrocephaly-capillary malformation may be confirmed through a thorough clinical evaluation that includes a detailed history and physical examination looking for MCAP-associated features. Molecular diagnosis requires demonstration of a mosaic activating mutation in PIK3CA, which may require advanced genetic testing to be performed on affected tissues (e.g., skin fibroblasts) or samples other than blood. Different diagnostic criteria have been proposed in the medial literature.", "therapies": "Treatment and surveillance of a child affected with MCAP may require the coordinated efforts of a team of specialists including a pediatrician, neurologist, developmental specialists, orthopedic surgeon, ophthalmologist, and, in some cases, neurosurgeon, dermatologist and other healthcare professionals who may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:319651", "name_zh": "二氢叶酸还原酶缺乏所致巨幼细胞性贫血", "Name": "Constitutional megaloblastic anemia with severe neurologic disease", "disease_name": "Megaloblastic Anemia", "synonyms": "constitutional megaloblastic anemia with severe neurological disease", "disease-overview": "Megaloblastic anemia is characterized by unusually large, structurally abnormal blood cells (megaloblasts) that do not function normally. Bone marrow, the soft spongy material found inside certain bones, produces the main blood cells of the body – red blood cells, white blood cells and platelets. All three cell lines may be affected in megaloblastic anemia. Anemia is a condition characterized by low levels of circulating red blood cells. Red blood cells are released from the marrow into the bloodstream where they travel throughout the body delivering oxygen to tissue. A deficiency in healthy, fully-matured red blood cells can result in fatigue, paleness of the skin (pallor), lightheadedness and additional findings. Megaloblastic anemia has several different causes – deficiencies of either cobalamin (vitamin B12) or folate (vitamin B9) are the two most common causes; dihydrofolate reductase deficiency is another more uncommon cause. Vitamin B12 and vitamin B9 play an essential role in the production of red blood cells. This disease can be diagnosed based on laboratory tests or characteristic findings when tissue is viewed under microscope.", "symptoms": "In most patients, megaloblastic anemia develops slowly, and affected individuals may not have any apparent symptoms (asymptomatic) for many years. Symptoms common to anemia usually develop at some point and may include fatigue, paleness of the skin (pallor), shortness of breath, lightheadedness, dizziness and a fast or irregular heartbeat. The specific symptoms present in each individual can vary greatly.", "causes": "The most common causes of megaloblastic anemia are deficiency of either cobalamin (vitamin B12) or folate (vitamin B9). These two vitamins serve as building blocks and are essential for the production of healthy cells such as the precursors to red blood cells. Without these essential vitamins, the creation (synthesis) of deoxyribonucleic acid (DNA), the genetic material found in all cells, is hampered.", "affected": "Megaloblastic anemia affects males and females in equal numbers. It can occur in individuals of any racial or ethnic background. Because the causes of megaloblastic anemia vary and because some individuals may not exhibit any obvious symptoms, determining its true frequency in the general population is difficult. It is estimated that there are less than 1,000 people in the U.S. with the disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of megaloblastic anemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of megaloblastic anemia is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of blood tests. Blood tests may reveal the abnormally large, misshapen red blood cells that characterize megaloblastic anemia. Blood tests can also confirm cobalamin or folate deficiency as the cause of megaloblastic anemia. Additional tests such as a Schilling test, which confirms poor absorption as the cause of cobalamin deficiency, may be necessary.", "therapies": NaN}
{"OrphaCode": "ORPHA:2479", "name_zh": "球形角膜-智力障碍综合征", "Name": "Megalocornea-intellectual disability syndrome", "disease_name": "Megalocornea Intellectual Disability Syndrome", "synonyms": "MMR syndrome", "disease-overview": "Megalocornea-intellectual disability syndrome is an extremely rare disorder that is characterized by distinctive abnormalities of the cornea of the eye (megalocornea) and varying degrees of cognitive impairment (intellectual disability). Most patients also present with diminished muscle tone (hypotonia) and may experience a wide variety of additional symptoms that can vary in severity. Individuals are typically diagnosed during early infancy or early childhood. To date, there have been approximately 40 individuals reported with megalocornea-intellectual disability syndrome in the medical literature. While the exact cause of this condition is unknown, it is suspected to have a genetic basis.", "symptoms": "A characteristic symptom of all individuals affected with megalocornea-intellectual disability syndrome is a distinctive eye abnormality known as megalocornea, which is the abnormal, nonprogressive enlargement of the cornea that occurs without the presence of increased pressure within the eye (glaucoma). The cornea is the clear (transparent) outer layer of the eye and has two functions – it protects the rest of the eye from dust, germs and other harmful or irritating material and it acts as the eye’s outermost lens, bending incoming light onto the inner lens, where the light is then directed to the retina (a membranous layer of light-sensing cells in the back of the eye). The retina converts light to images, which are then transmitted to the brain. The cornea must remain clear to be able to focus incoming light. Megalocornea is present at birth (congenital) and usually affects both eyes (bilateral). Although the cornea is abnormally enlarged, it is otherwise normal in structure, curvature and thickness.", "causes": "The exact cause of megalocornea-intellectual disability syndrome is unknown. However, cases reported in the literature are consistent with an autosomal recessive inheritance pattern or new (de novo) genetic changes (variants) that were not inherited from parents.", "affected": "Megalocornea-intellectual disability syndrome is typically diagnosed in early childhood or early infancy. Due to the rarity of the condition and the small number of documented cases, there are no accurate estimates for the incidence of this condition. To date, approximately 40 individuals with the condition have been reported in the medical literature. Most are sporadic, meaning that individuals are typically the only ones affected with the condition in their families. An approximately equal number of males and females have been reported. Additionally, individuals across varied races have been reported with this condition.", "related-disorders": "Symptoms of the following disorder can be similar to those of megalocornea-intellectual disability syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Megalocornea-intellectual disability syndrome is diagnosed during early infancy or early childhood based on a clinical evaluation, identification of characteristic physical findings and/or a variety of specialized tests. Many researchers agree that the presence of megalocornea and intellectual disability should be considered the minimal criteria upon which to base a diagnosis.", "therapies": "Treatment is directed towards the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, physical therapists and specialists who assess and treat eye problems (ophthalmologists), neurological disorders (neurologists), skeletal disorders (orthopedists) and heart problems (cardiologists) may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:2554", "name_zh": "耳-髌骨-身材矮小综合征", "Name": "Ear-patella-short stature syndrome", "disease_name": "Meier-Gorlin Syndrome", "synonyms": "MGS", "disease-overview": "", "symptoms": "The main clinical features of MGS are small ears, kneecap abnormalities and short stature. These features can be seen at birth and are discussed in more detail below.", "causes": "MGS can be caused by changes (mutations) in eight different genes (ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN). Most forms of MGS are inherited in an autosomal recessive inheritance pattern. MGS type 6 (GMNN gene) is inherited in an autosomal dominant pattern.", "affected": "Since MGS was first described in 1959, only about 67 cases have been reported in the medical literature (Nov 2019). MGS is estimated to affect less than 1-9 individuals per 1,000,000 people. However, researchers believe this condition is under-diagnosed. MGS affects men and women equally.", "related-disorders": "Symptoms of the following disorders can be similar to those of MGS. Looking at comparisons may be useful to clarify the diagnosis:", "diagnosis": "MGS is diagnosed based on the clinical signs and symptoms. The presence of small ears, very small or absent kneecaps and short stature are essential for the clinical diagnosis of MGS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93964", "name_zh": "Meige综合征", "Name": "Blepharospasm-oromandibular dystonia syndrome", "disease_name": "Meige Syndrome", "synonyms": "Brueghel Syndrome", "disease-overview": "Meige syndrome is a rare neurological movement disorder characterized by involuntary and often forceful contractions of the muscles of the jaw and tongue (oromandibular dystonia) and involuntary muscle spasms and contractions of the muscles around the eyes (blepharospasm). The specific symptoms and their severity vary from case to case.", "symptoms": "Meige syndrome is characterized by the combination of blepharospasm and oromandibular dystonia. The severity of these conditions varies from case to case. Meige syndrome most often affects middle-aged individuals.", "causes": "The cause of Meige syndrome is unknown. Researchers speculate that the cause of Meige syndrome may be multifactorial (e.g., caused by the interaction of certain genetic and environmental factors).", "affected": "Meige syndrome affects women more often than men. Symptoms typically begin in middle-age between 40-70 years, although cases have been reported in individuals much younger. The disorder was first described in detail in the medical literature in 1910 by French neurologist Henry Meige.", "related-disorders": "Symptoms of the following disorders can be similar to those of Meige syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "No tests exist to diagnose Meige syndrome. A diagnosis is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:411533", "name_zh": "欧洲非罕见：黑色素瘤", "Name": "Melanoma, Malignan", "disease_name": "Melanoma, Malignan", "synonyms": "Melanoblastoma", "disease-overview": "Malignant Melanoma is a common skin cancer that arises from the melanin cells within the upper layer of the skin (epidermis) or from similar cells that may be found in moles (nevi). This type of skin cancer may send down roots into deeper layers of the skin. Some of these microscopic roots may spread (metastasize) causing new tumor growths in vital organs of the body.", "symptoms": "In the early stages, most melanomas do not produce any specific symptoms.  Later they may appear as lesions that do not heal or an existing mole that shows changes in size or color.  A physician should be consulted when any lesion, pigmented or not, becomes itchy, burns, softens or hardens, forms a scab, bleeds, becomes surrounded by a reddened or inflamed area, changes color, size, or shape.", "causes": "The exact cause of Malignant Melanoma is unknown.  Excessive exposure to the sun, particularly before puberty, and living in areas that are closer to the sun (i.e., tropical climates), increases the risk of developing skin cancer.", "affected": "Malignant Melanoma affects males and females in equal numbers. The incidence of these types of skin cancers is increasing at a relatively fast rate as compared with other forms of cancer.  The risk of melanoma is higher in people of European descent than in other populations.  A darker pigmentation to the skin may be associated with a lower risk of Malignant Melanoma.  It is also associated with a greater risk for those individuals with blue eyes and a fair complexion.", "related-disorders": "Symptoms of the following disorders can be similar to those of Malignant Melanoma.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Basal Cell Carcinoma is a common skin cancer. It may appear as small, shiny, firm nodules; ulcerated, crusted lesions; or flat, scar-like hardened patches that may bleed.  Without a biopsy, this type of skin cancer is difficult to differentiate from psoriasis or localized dermatitis.", "therapies": "The treatment for malignant melanoma depends on the level, stage, and location of the skin cancer at the time of diagnosis. For stage 1 disease, surgery to remove the affected area involves a wide excision with 5 cm margins around the lesion. In some locations, such as the face, smaller margins must be accepted. In Stage 2 disease, the cancer has progressed to the lymph nodes; additional surgery then involves complete removal of the involved nodes (lymphadenectomy). Regular follow-ups are advisable and typically include an annual chest x-ray."}
{"OrphaCode": "ORPHA:550", "name_zh": "线粒体脑肌病伴乳酸血症和卒中样发作", "Name": "MELAS Syndrome", "disease_name": "MELAS Syndrome", "synonyms": "Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod", "disease-overview": "MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting. Stroke-like episodes with temporary muscle weakness on one side of the body (hemiparesis) may also occur and this can lead to altered consciousness, vision and hearing loss, loss of motor skills and intellectual disability. MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1.", "symptoms": "Symptoms of MELAS syndrome usually begin between the ages of two and fifteen years, but delayed onset cases have also been reported between fifteen and forty years and late onset cases after forty years.  In approximately 75 percent of cases, onset of the disorder is before the age of 20 years.  Symptoms and physical findings associated with MELAS syndrome vary greatly between affected individuals in the same family and between different families.  The distinguishing feature in MELAS syndrome is the recurrence of stroke-like episodes. It is currently thought that the deficiency of a compound called nitric oxide in the small blood vessels of the brain may be responsible for the stroke-like episodes. Short stature and hearing loss may be present and fatigue and difficulty tolerating exercise may be early symptoms.", "causes": "MELAS is caused by mutations in mitochondrial DNA (mtDNA). Mutations affecting the genes for mtDNA are inherited from the mother. MtDNA that is found in sperm cells is typically lost during fertilization and as a result, all human mtDNA comes from the mother. An affected mother will pass on the mutation to all her children, but only her daughters will pass on the mutation to their children. Mitochondria, which are found by the hundreds or thousands in the cells of the body, particularly in muscle and nerve tissue, carry the blueprints for regulating energy production.", "affected": "MELAS syndrome is a rare disorder that affects males and females in equal numbers. Although rare, MELAS syndrome is probably the most common type of mitochondrial myopathy caused by mutations in mtDNA. Some researchers believe that mitochondrial myopathies may go unrecognized and underdiagnosed in the general population, making it difficult to determine the true frequency of disorders like MELAS syndrome.", "related-disorders": "Kearns-Sayre syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease  such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre syndrome may be associated with other disorders and/or conditions. (For more information on this disorder, choose Kearns Sayre as your search term in the Rare Disease Database.)", "diagnosis": "MELAS is diagnosed based on clinical findings and molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:87503", "name_zh": "Meleda角化病", "Name": "Mal de Meleda", "disease_name": "Meleda Disease", "synonyms": "Keratosis Palmoplantaris Transgradiens of Siemens", "disease-overview": "Meleda disease is an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusually red (erythema) and become abnormally thick and scaly (symmetrical cornification). Affected children may also exhibit various abnormalities of the nails; excessive sweating (hyperhidrosis) associated with an unpleasant odor; and/or, in some cases, development of small, firm raised lesions (lichenoid plaques). The range and severity of symptoms may vary from case to case. Meleda disease is inherited as an autosomal recessive trait.", "symptoms": "Meleda disease is an extremely rare inherited skin disorder that is usually obvious shortly after birth.  Initially, affected infants may have unusually red skin on the palms of the hands and the soles of the feet (palmoplantar erythema).  The affected skin then becomes abnormally thick, yellowish-brown, and scale-like (hyperkeratosis).  These skin lesions are usually present on both sides of the body (bilateral) on the same respective areas (symmetrical palmoplantar keratosis).  As the child grows older, these patches may spread to involve the entire hand or foot.  Eventually, the wrists, forearms, and knees may also become involved.  In some cases, with advancing age, the skin on the chest and abdomen may also become dry, scaly, and cracked.  Excessively dry skin may cause pain and discomfort.", "causes": "Meleda disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Meleda disease is an extremely rare disorder that affects males and females in equal numbers.  More than 100 cases have been reported in the medical literature.  The prevalence of Meleda disease in the general population is estimated at one case per 100,000 people.  Skin abnormalities associated with this disorder may be present at birth (congenital).  Other symptoms usually become apparent by the second or third year of life.", "related-disorders": "Symptoms of the following disorders can be similar to those of Meleda disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of Meleda disease may be confirmed by a thorough clinical evaluation that includes a detailed patient history and identification of characteristic physical findings. In most cases, skin abnormalities may be apparent at birth (congenital) or during infancy including characteristic skin abnormalities on the palms of the hands and the soles of the feet.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2483", "name_zh": "梅-罗综合征\n", "Name": "Melkersson-Rosenthal Syndrome", "disease_name": "Melkersson-Rosenthal Syndrome", "synonyms": "Melkersson syndrome", "disease-overview": "", "symptoms": "Melkersson-Rosenthal syndrome is defined by recurrent swelling (edema) of various facial features such as the upper lip, lower lip, one or both cheeks, eyelids, or rarely, one side of the scalp. It is also characterized by recurrent muscle weakness or paralysis (palsy) in the face and deep grooves or cracks (fissures) in the tongue. Affected individuals usually present with only one or two symptoms. It is estimated that about 8-18% of all patients present with all three symptoms.", "causes": "The cause of MRS is still not known. Some cases of MRS have been attributed with various infections by bacterial or viral agents; it is possible that infection with herpesviruses may be a possible cause for MRS. Dietary and other allergens may also be involved in the development of MRS. Some studies have demonstrated the role of hormonal changes triggering the onset of inflammatory episodes. It is also suspected that MRS may be a secondary symptom of another condition such as Crohn’s disease or sarcoidosis. However, no strong associations exist to explain what causes MRS.", "affected": "MRS affects individuals of all ages. Typically, onset of symptoms begins in young adulthood but can occur well into adulthood. While it is not common, a few patients have been diagnosed during childhood. Most literature suggests that MRS tends to affect more females than males. Due to the rarity of MRS, accurate data regarding the incidence of this condition is difficult to obtain. It is likely an under-diagnosed condition as many people with MRS are misdiagnosed because the clinical symptoms overlap with many other common conditions.", "related-disorders": "Bell’s palsy is a nonprogressive neurological disorder of one of the facial nerves (7th cranial nerve). This disorder is characterized by the sudden onset of facial paralysis that may be preceded by a slight fever, pain behind the ear on the affected side, a stiff neck, and weakness and/or stiffness on one side of the face. Paralysis results from decreased blood supply (ischemia) and/or compression of the 7th cranial nerve. The exact cause of Bell’s palsy is not known. Viral (e.g., herpes zoster virus) and immune disorders are frequently implicated as a cause for this disorder. There may also be an inherited tendency toward developing Bell’s palsy. (For more information on this disorder, choose Bell as your search term in the Rare Disease Database).", "diagnosis": "MRS is diagnosed clinically, based on physical findings and medical history. The presence of persistent or recurrent facial swelling and either facial palsy or tongue findings may be sufficient for a clinical diagnosis. A biopsy of the lips may be necessary to confirm the diagnosis and rule out possible infectious causes, recurrent angioedema, Crohn’s disease, sarcoidosis or cancers. The presence of only one of the clinical features is enough for diagnosis when a biopsy of affected tissues is consistent with MRS. Because of the overlapping features of MRS with other common conditions, time to diagnosis may take years.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2484", "name_zh": "Melnick-Needles综合征", "Name": "Melnick-Needles syndrome", "disease_name": "Melnick Needles Syndrome", "synonyms": "Melnick-Needles osteodysplasty", "disease-overview": "", "symptoms": "MNS is a congenital condition, meaning it is present from birth. However, different members of the same family can have differences in the severity of their symptoms. Due to this variability, individuals may vary in their age at the time of diagnosis.", "causes": "MNS is an X-linked dominant genetic disorder caused by an abnormality (mutation) in the FLNA gene which contains instructions for creating a protein called filamin A. The FLNA gene has been mapped to chromosome Xq28.", "affected": "MNS occurs in females much more often than in males. This is because males with MNS often do not survive to term in pregnancy. Approximately 70 total cases have been reported in the medical literature, but it is likely that there are many more individuals with MNS who haven’t been reported in the medical literature or haven’t been diagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of Melnick-Needles syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Multiple epiphyseal dysplasia (MED) is a hereditary bone disorder that affects females and males in equal numbers. It can either have an autosomal recessive or autosomal dominant pattern of inheritance. Symptoms begin between two and five years of age with the appearance of a waddling gait. Individuals with MED may experience pain because of joint disease (osteoarthritis). Body size tends to be almost normal, except for the hands and feet which are disproportionately small. (For more information on this condition, choose rMED or dMED as your search terms in the Rare Disease Database.)", "therapies": NaN}
{"OrphaCode": "ORPHA:2485", "name_zh": "肢骨纹状肥大症", "Name": "Melorheostosis", "disease_name": "Melorheostosis", "synonyms": "", "disease-overview": "Melorheostosis is a rare and progressive disease characterized by thickening or widening (hyperostosis) of the outer layers of the bone (cortical bone).", "symptoms": "Melorheostosis usually affects a single arm or leg (segment of the appendicular skeleton) and rarely affects both sides of the body. This condition is usually restricted to the inside (medial) or outside (lateral) of the bones. The disease can also affect the axial skeleton: pelvis, sternum, ribs and, more rarely, the spine and skull. Symptoms may progressively worsen over time. Signs and symptoms of melorheostosis may include:", "causes": "Melorheostosis is usually an isolated disorder. However, it has also been observed in some families with osteopoikilosis or Buschke-Ollendorff syndrome due to a change (mutation or pathogenic variant) in the LEMD3 gene.", "affected": "The estimated incidence of melorheostosis is 1 in 1,000,000. Approximately 400 cases have been reported. Males and Females are affected in equal numbers.", "related-disorders": "Melorheostosis can be part of the following conditions:", "diagnosis": "", "therapies": "Treatments are currently limited and mostly aimed at reducing symptoms."}
{"OrphaCode": "ORPHA:2494", "name_zh": "Menetrier病", "Name": "Menetrier Disease", "disease_name": "Menetrier Disease", "synonyms": "", "disease-overview": "Menetrier disease is a rare disorder characterized by massive overgrowth of mucous cells (foveola) in the mucous membrane lining the stomach, resulting in large gastric folds. The most common symptom associated with Menetrier disease is pain in the upper middle region of the stomach (epigastric pain). The cause of Menetrier disease is unknown.", "symptoms": "The symptoms of Menetrier disease may vary from case to case. Some individuals may not exhibit any symptoms (asymptomatic). The most common symptom is pain in the upper middle region of the stomach (epigastric pain). Less frequent reported symptoms include nausea, vomiting, and diarrhea. In some cases, weight loss and profound loss of appetite (anorexia) may also occur.", "causes": "The exact cause of Menetrier disease is unknown. There may be multiple causes. In children, some cases of Menetrier disease may be associated with infection with cytomegalovirus (CMV). The bacterium Helicobacter pylori has been implicated in some adults with Menetrier disease. The exact role, if any that these infections play in the development of Menetrier disease is unknown.", "affected": "Menetrier disease affects males slightly more often than females. It most often affects adults in their 50s or older. However, a childhood form of the disorder exists. Because of the confusion in the literature regarding the term Menetrier disease, it is difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Menetrier disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Zollinger-Ellison syndrome (ZES) is a rare, digestive disorder characterized by the development of a tumor (gastrinoma) or tumors that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. Many affected individuals develop multiple gastrinomas, approximately half to two-thirds of which may be cancerous (malignant). In most cases, the tumors arise within the pancreas and/or the upper region of the small intestine (duodenum). Due to excessive acid production (gastric acid hypersecretion), individuals with ZES may develop peptic ulcers of the stomach, the duodenum, and/or other regions of the digestive tract. Peptic ulcers are sores or raw areas within the digestive tract where the lining has been eroded by stomach acid and digestive juices. Symptoms and findings associated with ZES may include mild to severe abdominal pain; diarrhea; gastroinestinal bleeding; increased amounts of fat in the stools (steatorrhea); and/or other abnormalities. Individuals with Zollinger-Ellison syndrome may have giant gastric folds. (For more information on this disorder, choose Zollinger-Ellison as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2495", "name_zh": "脑膜瘤", "Name": "Meningioma", "disease_name": "Meningioma", "synonyms": "meningeal tumor", "disease-overview": "", "symptoms": "Meningioma can occur at any age but tend to occur in older individuals; the median age at diagnosis is 65 years (meaning that half of diagnosed people will be over that age and the other half below). The potential symptoms of meningioma are variable and depend on the location of the tumor and the locations of the brain and spine that are compromised.", "causes": "As their name indicates, meningioma is derived from the meninges, which are membranes that cover the brain and spinal cords. More specifically, most meningioma originate from a type of cells within the meninges known as arachnoid cap cells, which are involved in the resorption of cerebrospinal fluid.", "affected": "In the United States, about 40% of primary brain tumors are meningiomas. In 2023, it is estimated that about 42,000 people will be diagnosed with meningioma. However, this is likely an underestimation, as autopsy data shows that up to 2.8% of individuals have a meningioma. Most of these tumors are too small to cause symptoms and will never grow enough to be clinically significant.", "related-disorders": "Disorders related to meningioma can be divided in two categories: syndromes with several symptoms and features, one of which is an increased risk of meningioma, and diseases that are not meningioma, but where affected individuals can have similar symptoms to individuals with meningioma.", "diagnosis": "The diagnosis of meningioma is mostly based on a patient history and physical examination, medical imaging, and analysis of the cells composing the tumor. A patient that has signs and symptoms suggestive of a central nervous system lesion such as recent onset of seizures or neurological deficits (for more details, see the Signs & Symptoms section) will usually undergo brain and/or spine medical imaging with a computed tomography (CT) scan or magnetic resonance imaging (MRI). MRI is the imaging modality of choice for initial evaluation of brain tumors. Although the presence of a meningioma can be suspected with medical imaging due to their characteristic location, analysis of the cells of the tumor provides the most definitive diagnosis. Meningioma cells can be obtained by removing a piece of the tumor with a biopsy. However, meningiomas are usually removed surgically without a prior biopsy as this provides therapeutic in addition to diagnostic benefit. Once tumor cells are obtained, they can be analyzed under the microscope by a pathologist, who will confirm the diagnosis. A laboratory technique called immunohistochemistry can be used to stain meningioma cells to facilitate their identification.", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:499004", "name_zh": "结核性脑膜炎", "Name": "Meningitis, Tuberculous", "disease_name": "Meningitis, Tuberculous", "synonyms": "TBM", "disease-overview": "Tuberculous Meningitis (TBM) is a form of meningitis characterized by inflammation of the membranes (meninges) around the brain or spinal cord and caused by a specific bacterium known as Mycobacterium tuberculosis. In TBM, the disorder develops gradually. Treatment with antibiotics and other drugs is usually effective against the infection.", "symptoms": "Tuberculous Meningitis involves the central nervous system.  Headaches and behavioral changes may be noticed initially.  Fever, headache, a stiff neck, and vomiting may also occur.  Symptoms among older children and adults may progress from irritability to confusion, drowsiness, and stupor, possibly leading to coma.", "causes": "Tuberculous Meningitis is a rare complication that occurs in some patients who have or have had tuberculosis (TB), especially miliary tuberculosis.  It can also occur in people who have been exposed to the bacteria that causes TB.  This form of meningitis is caused by a specific bacteria known as Mycobacterium Tuberculosis.  (For more information on tuberculosis, choose tuberculosis as your search term in the Rare Disease Database).", "affected": "TBM is usually found in children aged one to five years although it may occur at any age.", "related-disorders": "Symptoms of the following disorders may resemble those of Tuberculous Meningitis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In general, Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord.  This inflammation may be caused by different types of bacteria, viruses, fungi, malignant tumors, or reactions to certain injections into the spinal canal.  (For more information on other forms of meningitis, choose meningitis as your search term in the Rare Disease Database.)", "therapies": "Meningitis is usually treated with antibiotic drugs used against the bacteria causing the infection. These may include isoniazid, rifampin, streptomycin, and ethambutol. Treatment should last for at least 9 months to one year. Corticosteroid drugs such as prednisone may also be of benefit."}
{"OrphaCode": "ORPHA:55655", "name_zh": "肺炎球菌性脑膜炎", "Name": "Meningitis", "disease_name": "Meningitis", "synonyms": "", "disease-overview": "Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. The disorder can occur in three different forms: adult, infantile, and neonatal. This inflammation may be caused by different types of bacteria, viruses, fungi, or malignant tumors. Chemical reactions to certain injections into the spinal canal can also cause Meningitis. This inflammation can begin suddenly (acute) or develop gradually (subacute). Adult forms of Meningitis are characterized by fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Treatment with antibiotics is usually effective against the infection.", "symptoms": "Meningitis in adults and children is often preceded by respiratory illness or a sore throat.  In its acute form, the disorder is characterized by fever, headache, a stiff neck, and vomiting.  Adults may become seriously ill within 24 hours.  In children, the course of the infection may be even shorter. Symptoms among older children and adults may progress from irritability through confusion, drowsiness, and stupor, possibly leading to coma. Dehydration often occurs, and collapse of the blood vessels may lead to shock (Waterhouse-Friderichsen Syndrome), especially when the Meningitis is caused by meningococcus bacteria which spreads to the blood (septicemia).  Paralysis of one side of the body (hemiparesis) is uncommon early in the course of Meningitis, but may occur later as a result of tissue death in the brain (cerebral infarction).  Meningitis may recur even after treatment with antibiotics.", "causes": "Meningitis can be caused by different bacteria, viruses and organisms such as Neisseria meningitis, Hemophilus influenzae b, Streptococcus (Diplococcus) pneumoniae, Group A Streptococcus, Escherichia coli or other gram-negative organisms (chiefly Pseudomonas), and Staphylococcus aureus.", "affected": "Aproximately 3,000 cases of Meningitis have been reported in 1997.  Meningitis caused by Hemophilus influenzae occurs most often in children before the age of five to six years.", "related-disorders": "Symptoms of the following disorders may resemble those of Meningitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Encephalitis is a brain infection.  There are different types of this disorder which are caused by different types of viruses.  Encephalitis may also be caused by hypersensitivity initiated by a virus or other protein that is foreign to the body.  Symptoms may include headache, drowsiness, hyperactivity, and/or general weakness.  This disorder may have some symptoms similar to those of Meningitis such as a stiff neck, altered reflexes, confusion, speech disorders, possible convulsions, paralysis and coma.  (For more information choose Encephalitis as your search term in the Rare Disease Database.)", "therapies": "Meningitis is usually treated with different types of antibiotics used against the specific bacteria causing the infection. These may include ampicillin, chloramphenicol, gentamicin, penicillin, moxalactam, nafcillin, or in tuberculosis cases isoniazid."}
{"OrphaCode": "ORPHA:33475", "name_zh": "流行性脑脊髓膜炎", "Name": "Meningococcal Meningitis", "disease_name": "Meningococcal Meningitis", "synonyms": "bacterial meningococcal meningitis", "disease-overview": "Meningococcal meningitis is a form of meningitis caused by a specific bacterium known as Neisseria meningitidis. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute). Symptoms may include fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may also occur. Skin rashes occur in about half of all individuals with meningococcal meningitis.", "symptoms": "Meningococcal meningitis is one of the three most common types of bacterial meningitis. The incubation period averages 3-4 days (range 1-10 days), which is the period of communicability. It progresses more rapidly than any other acute form of bacterial meningitis. Meningococcal meningitis involves the central nervous system. In adults and children it is often preceded by respiratory illness or a sore throat. In its acute form, the disorder is characterized by fever, headache, a stiff neck, nausea, vomiting and altered mental state such as confusion or coma. Adults may become seriously ill within hours. In children the course of the infection may be even shorter.", "causes": "Meningococcal meningitis is caused by a bacterium known as Neisseria meningitidis. There are several types, or serogroups, of Neisseria meningitidis. The most common of these serogroups are A, B, C, D, X, Y, 29E, and W135. Serogroups A, B, C, and Y are responsible for most meningococcal diseases.", "affected": "Meningococcal meningitis primarily affects infants, children, and young adults. Males are affected slightly more than females, and account for 55% of all cases, with an incidence of 1.2 cases per 100,000 population, compared to 1 case per 100,000 population among females. Meningococcal meningitis can occur as an epidemic in subgroups such as people in the military services or students in dormitories. Vaccines can help control meningitis epidemics caused by serogroups A, B, C, Y, or W135.", "related-disorders": "Symptoms of the following disorders may resemble those of meningococcal meningitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In general, meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation may be caused by different types of bacteria, viruses, fungi, malignant tumors, or reactions to certain injections into the spinal canal. (For more information on other types of Meningitis, choose meningitis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:565", "name_zh": "Menkes病", "Name": "Menkes disease", "disease_name": "Menkes Disease", "synonyms": "Copper Transport Disease", "disease-overview": "Introduction", "symptoms": "Menkes disease is characterized by dry skin and abnormal hair that is often brittle, tangled, sparse, steely or kinky and is often white, ivory, or grey in color. The affected infant may also appear to have a yellow appearance (jaundice) which is caused by excessive bilirubin in the blood (hyperbilirubinemia). Lower than normal body temperature (hypothermia) also may occur in the neonatal period. The normal, asymptomatic phase of the illness typically lasts for two to three months.", "causes": "Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene. This gene is responsible for production of the ATPase enzyme that regulates copper levels in the body. Individuals with Menkes disease have an abnormally low level of copper in the brain and liver and excess copper in the intestines and kidneys. Without the copper as a key element in their structure and functioning, the activity of the body’s copper-dependent enzymes is diminished. For example, reduced activity of the cuproenzyme tyrosinase causes reduced pigmentation of the hair and skin. Reduced activity of the cuproenzyme lysine oxidase causes failure of connective tissue to form strong, inner blood vessels walls.", "affected": "Recent studies suggest that the incidence of Menkes disease is about 1 in 35,000 live male births. The majority of diagnosed infants are male; however, MD may still occur in females, related to unusual genetic circumstances.", "related-disorders": "Wilson disease is a genetic disorder of copper metabolism characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and if left untreated, may cause liver (hepatic) failure, hemolytic crisis, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life-threatening complications. Treatment is aimed at reducing the amount of copper accumulated in the body by chelation therapy and maintaining normal copper levels thereafter. (For more information on this disorder, please choose Wilson as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of MD is suggested by the appearance of brittle, tangled, sparse, steely or kinky hair at several months of age. Blood tests showing low levels of serum copper and ceruloplasmin support the diagnosis. It is important to note that these levels are typically low in otherwise healthy newborns. A new method of diagnosis that can potential identify affected infants before copper deficiency affects the brain involves measurement of plasma catecholamine levels. This may be the basis for Menkes disease newborn screening in the future. Molecular genetic testing for mutations in the ATP7A gene may also prove to be an efficient method of population-based newborn screening.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79140", "name_zh": "皮肤神经内分泌癌", "Name": "Cutaneous neuroendocrine carcinoma", "disease_name": "Merkel Cell Carcinoma", "synonyms": "cutaneous neuroendocrine carcinoma", "disease-overview": "", "symptoms": "Merkel cell carcinoma most commonly affects regions of the skin that are exposed to the sun including the head/neck and arms, but it can also develop on other areas of the body that are not typically sun-exposed.", "causes": "Several risk factors have been established for MCC. These include being over the age of 50, having fair-skin, experiencing extensive sun exposure (ultraviolet light), or having an immune system that is either weakened or compromised. Individuals with conditions that suppress the immune system are at elevated risk of developing MCC. However, over 90% of people with MCC do not have any known problem with their immune system.", "affected": "Approximately 60% of MCC tumors arise in men. In the past 15 years, the incidence has tripled in the United States, and it can be lethal for about one-third of the people affected. As of 2020, approximately 3,000 persons per year are diagnosed with this cancer in the United States. The projected incidence is 3,200 cases by the year 2025.The incidence (number of people who develop a disorder over a given period of time such as one year) is approximately 0.7 people per 100,000 people in the general population of the United States. It dramatically increases to approximately 9.8 people per 100,000 in individuals more than 85 years of age. There is a 100,000-fold difference between the risk of developing MCC for patients under the age of 30 compared to those who are greater than 85 years old.", "related-disorders": "There are many different conditions that have an appearance very similar to Merkel cell carcinoma. These include epidermoid cysts, squamous cell carcinoma, basal cell carcinoma, pyogenic granuloma, lipomas, adnexal tumors, sebaceous cysts, melanoma and lymphoma. Under a microscope, small cell carcinoma of the lung is often a difficult disease to differentiate from primary Merkel cell carcinoma. Both cancers have similar neuroendocrine features. As such, special stains must be carried out in order to distinguish one cancer form from the other. This procedure is called immunostaining. During immunostaining, antibodies are applied to a sample of the tumor from a biopsy or from surgical removal. The antibodies are used to test for certain proteins (markers). Typically, MCC tumors stain positive for low molecular weight cytokeratins (CAM 5.2 or AE1/AE3), CK20 and neuron-specific enolase (NSE). MCC is typically not positive for CK7 or thyroid transcription factor 1 (TTF-1).", "diagnosis": "Diagnosis", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:551", "name_zh": "肌阵挛性癫痫伴破碎红纤维综合征", "Name": "MERRF Syndrome", "disease_name": "MERRF Syndrome", "synonyms": "myoclonic epilepsy associated with ragged red fibers", "disease-overview": "", "symptoms": "Symptoms of MERRF syndrome can begin in childhood, adolescence or early adulthood after a period of normal early development. Signs, symptoms and physical findings associated with MERRF syndrome may vary greatly between affected individuals in the same family and between different families. The age of onset and how quickly the condition progresses can differ between individuals.", "causes": "MERRF syndrome is caused by genetic changes (mutations) in mitochondrial DNA (mtDNA). Mitochondria, which are found by the hundreds or thousands in the cells of the body, particularly in muscle and nerve tissue, carry the blueprints for regulating energy production. MtDNA encodes specific genes that are the instructions for making some of the essential parts of the mitochondria.", "affected": "MERRF syndrome is a rare disorder that affects males and females in equal numbers. Onset of symptoms of MERRF syndrome can occur in childhood, adolescence or early adulthood. It typically presents after a period of normal early development.", "related-disorders": "MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a disorder that begins in childhood and affects mostly the nervous system and muscle. The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting. Stroke-like episodes with temporary muscle weakness on one side of the body (hemiparesis) may also occur and this can lead to altered consciousness, vision and hearing loss, loss of motor skills and intellectual disability. Diabetes mellitus and paralysis of eye muscle (chronic progressive external ophthalmoplegia) are often present in isolation or in association with other symptoms. MELAS is caused by mutations in mitochondrial DNA (mtDNA). Some mutations that cause MELAS are found in mtDNA genes that are also associated with MERRF syndrome. In one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1. (For more information on this disorder, choose MELAS as your search term in the Rare Disease Database.)", "diagnosis": "MERRF syndrome is diagnosed based on clinical findings and molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:55880", "name_zh": "软骨肉瘤", "Name": "Mesenchymal Chondrosarcoma", "disease_name": "Mesenchymal Chondrosarcoma", "synonyms": "", "disease-overview": "Mesenchymal chondrosarcoma is an extremely rare, often aggressive form of cancer. It is an uncommon type of chondrosarcoma. Conventional chondrosarcoma is a form of bone cancer that arises from cartilage cells. Cartilage is the specialized tissue that serves as a buffer or cushion at joints. Most of the skeleton of an embryo consists of cartilage, which is slowly converted into bone. Approximately two-thirds of cases of mesenchymal chondrosarcoma affect the bones, especially the spine, ribs or jaws. The remaining cases occur in areas of the body other than bone (extraskeletal, that is, occurring in soft tissues like muscle and fat). Unlike conventional chondrosarcomas, mesenchymal chondrosarcomas occur with greater frequency in young adults. This form of cancer often spreads (metastasizes) to other areas of the body and can cause life-threatening complications.", "symptoms": "The symptoms of mesenchymal chondrosarcoma may vary depending upon the exact location and progression of the tumor. Most mesenchymal chondrosarcomas arise in the bones of the jaw, spine or the ribs. However, the tumor can arise almost anywhere within the body. The arms and legs are also frequent sites of tumor development, especially the main bone of the thigh (femur). Approximately one-third of cases occur outside of bone, appearing as soft tissue masses and can affect the muscle or central nervous system", "causes": "The exact cause of mesenchymal chondrosarcoma is unknown. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer. No identifiable risk factors for the development of mesenchymal chondrosarcoma have been discovered.", "affected": "Mesenchymal chondrosarcoma was first described in the medical literature in 1959. It is an extremely rare form of cancer; fewer than 800 cancers have been reported in the medical literature. This tumor is most common in children and young adults (aged 10-30), but can affect individuals of any age including young children and older adults. Females are affected slightly more often than males. Mesenchymal chondrosarcoma is more likely to occur outside the bone in young adults or children and to affect bone in older adults. Mesenchymal chondrosarcomas account for approximately 5-10 percent of all cases of chondrosarcoma.", "related-disorders": "Symptoms of the following disorders can be similar to those of mesenchymal chondrosarcoma. Comparisons to other sarcomas of bone or soft tissue may be useful to understand the place of this diagnosis better.", "diagnosis": "A diagnosis of mesenchymal chondrosarcoma may be difficult. Some individuals may seek attention because of pain and swelling. A diagnosis may be made based upon a thorough clinical examination, a detailed patient history and a variety of specialized tests including x-ray studies and a procedure in which a small sample of tissue is removed and studied under a microscope (biopsy). A biopsy of a tumor or mass determines what type of cancer is present by identifying the cell type that makes up the tumor. In individuals suspected of a mesenchymal chondrosarcoma an open biopsy or a needle-guided biopsy is recommended.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:238593", "name_zh": "IgG4相关性肠系膜炎", "Name": "IgG4-related mesenteritis", "disease_name": "Mesenteric Panniculitis", "synonyms": "sclerosing mesenteritis", "disease-overview": "", "symptoms": "In general, mesenteric panniculitis is a chronic, benign disorder with a favorable prognosis that occasionally resolves on its own (spontaneous regression). Nonetheless, symptoms of mesenteric panniculitis may be severe in some patients and can result in significant effects on quality of life. The clinical presentation of mesenteric panniculitis is highly variable. Some patients have few or no noticeable symptoms. The diagnosis of mesenteric panniculitis may be made incidentally following a CT scan of the abdomen, generally for the evaluation of abdominal pain. Symptoms of mesenteric panniculitis fall into two categories. Some symptoms, such as abdominal pain, are due to the mass-like effect of mesenteric inflammation, and potentially involvement of adjacent structures including the small intestine. The second group of symptoms occurs in the presence of chronic inflammation and may include weight loss, fever, and fatigue. Some affected individuals may develop complications such as small bowel obstruction or acute abdomen. Small bowel obstruction prevents the passage of food through the intestines and can cause a variety of nonspecific gastrointestinal symptoms as well as a nutrient malabsorption.", "causes": "There is little information available on the cause of mesenteric panniculitis. Many autoimmune diseases are believed to occur when patients with genetic predisposition to the diseases are exposed to an environmental factor that triggers an inappropriate immunologic response. This response ultimately leads to chronic inflammation. To this end, many conditions have been associated with and possibly predispose to the development of mesenteric panniculitis. These include surgery, acute pancreatitis, other autoimmune conditions and trauma.", "affected": "The epidemiology of mesenteric panniculitis has not been fully defined. One study reported that findings consistent with mesenteric panniculitis occurred in 359 patients (0.24%) from a total of 147,794 abdominal computed tomography (CT) examinations undertaken for over a 5-year period in a large community based medical system. Of these, 100 patients (28%) had known malignancy or were later diagnosed with cancer. The incidence of mesenteric panniculitis from recent studies has shown a range from 0.16% – 3.4%. This range is dependent on the method of diagnosis and whether it is histologic versus radiologically diagnosed.", "related-disorders": "Symptoms of mesenteric panniculitis mimic those of a number of other benign and malignant conditions. Because of this, it is important to rule out other diseases prior to confirming the diagnosis of mesenteric panniculitis. Infectious causes range from viral, bacterial (including V. cholerae) and parasitic infections. There are also a variety of diseases that are associated with mesenteric abnormalities on abdominal imaging. Such conditions include primary or metastatic mesentery cancer, gastrointestinal lymphoma, desmoid tumors, inflammation of the pancreas (pancreatitis), Crohn’s disease, idiopathic nodular panniculitis, locally advanced pancreatic adenocarcinoma, retroperitoneal fibrosis and other sclerotic diseases as mentioned above.", "diagnosis": "The diagnosis of mesenteric panniculitis is made based upon identification of suggestive symptoms, a detailed patient history, and a thorough clinical evaluation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:512", "name_zh": "异染性脑白质营养不良", "Name": "Metachromatic leukodystrophy", "disease_name": "Metachromatic Leukodystrophy", "synonyms": "MLD", "disease-overview": "", "symptoms": "Each MLD subtype has specific symptoms and rate of progression. Each subtype is based on age of onset.", "causes": "MLD is an autosomal recessive genetic disorder. Recessive genetic disorders occur when both copies of the gene are affected. If a child is affected, most of the time, their parents are carriers, meaning each parent will have one changed (mutated) copy and one normal copy of the ARSA gene, but will not have symptoms. The risk for two carrier parents to both pass the altered gene and have an affected child is 25%. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females. The ARSA gene encodes the protein arylsulfatase A. There is some association with specific mutations and the subtype of MLD (genotype-phenotype correlation). Rarely, children with MLD have working copies of the ARSA gene, but abnormalities in PSAP gene, which encodes several saposin proteins, including saposin B, an activator of arylsulfatase A.", "affected": "The true prevalence rate of MLD is unknown, but is estimated to be between 1 in 40,000 and 1 in 160,000. The Navajo also have a higher prevalence rate of 1 in every 2,500 people. In certain populations in the Middle East, these numbers may be even higher.", "related-disorders": "There are multiple related disorders that have been identified with similar causes or symptoms, including other leukodystrophies, which can have a similar initial presentation in early childhood.", "diagnosis": "MLD is first suspected by recognizing the characteristic pattern of progressive impairment. In the late-infantile form, the first signs are often difficult walking, which can present as new inability to fully lift the feet while walking (foot drop) or by toe walking. For adult MLD, the first signs are slurred speech and behavioral issues that include difficulty in school, behavior changes, and decreased ability in school. Individuals with juvenile MLD can present with motor or cognitive symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:174", "name_zh": "干骺软骨发育异常Schmid型", "Name": "Metaphyseal Chondrodysplasia, Schmid Type", "disease_name": "Metaphyseal Chondrodysplasia, Schmid Type", "synonyms": "Japanese type spondylometaphyseal dysplasia", "disease-overview": "Metaphyseal chondrodysplasia, Schmid type (MCDS), is a very rare inherited disorder characterized by short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Other physical characteristics may include outward flaring of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body (coxa vara). Such abnormalities of the legs and hips typically result in an unusual waddling walk (gait). MCDS is transmitted as an autosomal dominant trait.", "symptoms": "In MCDS, portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large end portions (metaphyses) of the long bones. Bone growth normally takes place at the metaphyses, but in individuals with MCDS, the growth plate does not function as well as normal and the bones of the leg bow. Consequently, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism) that usually become apparent by the second year of life.", "causes": "MCDS is caused by a mutation of the gene for type X collagen called COL10A1. This gene has been mapped to chromosome 6q21-22.3. MCDS is transmitted as an autosomal dominant trait.", "affected": "Metaphyseal chondrodysplasia Schmid type is a very rare bone disorder that affects males and females in equal numbers. Individuals of several large families (kindred) have been documented in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Schmid type metaphyseal chondrodysplasia. Comparisons may be useful for differential diagnosis:", "diagnosis": "McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia, is an extremely rare inherited disorder characterized by unusually fine, sparse hair and abnormal development of the cartilage and subsequent bone formation in the long bones of the arms and legs (metaphyseal chondrodysplasia), resulting in unusually short arms and legs and short stature (short-limbed dwarfism). Most affected individuals exhibit impairment of certain white blood cells (T-cells) that play an important role in helping the body’s immune system fight certain infections (cellular immunodeficiency). In addition, affected individuals may also exhibit impaired absorption of certain necessary nutrients (malabsorption); abnormally low levels of certain white blood cells in the body (neutropenia and lymphocytopenia); low levels of circulating red blood cells (anemia); increased susceptibility to repeated infections, such as chickenpox; abnormalities of the teeth; and/or other physical findings. The range and severity of symptoms vary widely from person to person. McKusick type metaphyseal chondrodysplasia is inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose McKusick type metaphyseal chondrodysplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2635", "name_zh": "变型骨发育不良", "Name": "Metatropic Dysplasia I", "disease_name": "Metatropic Dysplasia I", "synonyms": "Chondrodystrophy, Hyperplastic Form", "disease-overview": "Metatropic Dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism.", "symptoms": "Metatropic Dysplasia I is characterized by abnormal skeletal development. Patients with this disorder typically have short ribs, short deformed arms and legs, kyphoscoliosis (abnormal curvature of the spine) and extremely short stature.  A long narrow thorax, bulging joints with limited mobility of the knees and hips, and unusual increased extension of the finger joints are typical features.", "causes": "Metatropic Dysplasia I can be inherited as an autosomal dominant or autosomal recessive trait.", "affected": "Metatropic Dysplasia I is a very rare disorder that affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Metatropic Dysplasia I.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Kniest Syndrome is a rare type of dwarfism that is characterized by unusually short arms and legs, a round face with hollow or depressed areas, swelling and stiffness of the joints, and a stiff drawing up (contractures) of the fingers.  A cleft palate, curvature of the spine (scoliosis), vision and hearing problems may also occur.  (For more information on this disorder, choose Kniest as your search term in the Rare Disease Database.)", "therapies": "Treatment of Metatropic Dysplasia I is symptomatic and supportive. When partial dislocation of the segments of the spinal column at the top of the spine (cervical vertebrae) is present, the joint between the two vertebrae can be fused together. This procedure should be done in order to prevent damage to the cervical part of the spinal cord."}
{"OrphaCode": "ORPHA:28", "name_zh": "维生素B12反应性甲基丙二酸血症", "Name": "Methylmalonic Acidemia", "disease_name": "Methylmalonic Acidemia", "synonyms": "methylmalonic aciduria", "disease-overview": "Methylmalonic acidemia (MMA) is a group of genetic disorders in which the body can’t breakdown (metabolize) proteins and fats properly. This results in an abnormally high level of acid in the blood (acidemia) and body tissues. This condition varies in severity from mild to life-threatening. Infants with this condition typically have drowsiness, vomiting, dehydration, weak muscle tone (hypotonia) and excessive tiredness (lethargy). Without treatment, MMA can lead to coma and death in some patients. MMA is inherited in an autosomal recessive pattern.", "symptoms": "The onset of MMA is usually during the first few months of life, but onset throughout childhood has been described. Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse.", "causes": "Methylmalonic academia is caused by changes (variants) in several different genes including MMUT, MMAA, MMAB, MMADHC and MCEE.", "affected": "Methylmalonic acidemia occurs in 1 in 50,000 to 1 in 100,000 livebirths. Based on a large study, the detection of MMA was below 2 cases per 100,000 newborns in North America, Europe and Asia-Pacific regions.", "related-disorders": "Symptoms of the following disorders are similar to those of methylmalonic acidemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Methylmalonic acidemia can be identified at birth on a blood spot through expanded newborn screening with tandem mass spectrometry. A baby with high levels of acylcarnitines, methylmalomic acid and methylcitiric acid may have MMA. Additional testing on blood, urine and sometimes skin is needed to confirm a diagnosis of MMA. Magnetic resonance imaging (MRI) and computed tomography (CT) imaging studies show several alterations in the brain. Genetic testing for variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes can also confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:309025", "name_zh": "甲羟戊酸激酶缺乏", "Name": "Mevalonate kinase deficiency", "disease_name": "Mevalonate Kinase Deficiency", "synonyms": "MKD", "disease-overview": "Mevalonate kinase deficiency (MKD) is a rare genetic autoinflammatory disorder. Autoinflammatory syndromes are a group of disorders characterized by seemingly random or unprovoked episodes of inflammation generally due to an abnormality of the innate immune system. They are not the same as autoimmune disorders, in which the adaptive immune system malfunctions and mistakenly attacks healthy tissue.", "symptoms": "Mevalonate kinase deficiency is a spectrum of disease that can range from milder symptoms to severe, even life-threatening complications. Affected individuals can fall anywhere along this spectrum and it is important to remember every person is unique and the disorder may affect them differently from how it affects another person.", "causes": "Mevalonate kinase deficiency is caused by changes (mutations) in the MKV gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the specific protein, this can affect many organ systems of the body.", "affected": "Mevalonate kinase deficiency affects males and females in equal numbers. More than 300 individuals worldwide are known to have the disorder, but the true number is likely greater. Most people with the disorder are individuals of western European heritage with approximately 60% occurring in Dutch or French individuals. The exact incidence and prevalence is unknown and it is likely that the disorder goes misdiagnosed or undiagnosed. This makes it difficult to determine the exact incidence or prevalence of mevalonate kinase deficiency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of mevalonate kinase deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a mevalonate kinase deficiency is made based upon a thorough clinical evaluation, identification of characteristic symptoms (e.g., lifelong recurrent fevers not due to infection), and a variety of tests including blood tests to determine the levels of immunoglobulin D (IgD) in the blood, urine tests to detect the presence of mevalonate kinase, and DNA analysis to detect the genetic mutation associated with the disorder.", "therapies": "Treatment is directed toward the specific symptoms that are apparent in each individual."}
{"OrphaCode": "ORPHA:2290", "name_zh": "微绒毛包涵体病", "Name": "Microvillus inclusion disease", "disease_name": "Microvillus Inclusion Disease", "synonyms": "congenital familial protracted diarrhea", "disease-overview": "", "symptoms": "MVID is characterized by severe, large amounts of watery diarrhea appearing at birth or within seventy-two hours. Symptoms of a rare late onset form may not occur until two or three months after birth. Diarrhea persists even after oral feeding is stopped and does not decrease with age. Diarrhea often worsens after feeding because of malabsorption of necessary nutrients. The diarrhea often results in life-threatening complications, specifically severe dehydration and metabolic acidosis, which may cause kidney failure, requiring the infant to be hospitalized. There may also be related weight loss, growth retardation and developmental delay.", "causes": "MVID is caused by loss of function changes (mutations) in myosin Vb (Myo5b) gene, a molecular motor gene that is responsible for traffic of proteins into the brush border of epithelial cells. Most cases of MVID are caused by mutations in Myo5b. However, some patients with MVID with late presentation and milder disease have been reported to have mutations in syntaxin 3, a gene for a SNARE protein that is responsible for vesicle fusion with the membrane.", "affected": "Fewer than 100 cases of MVID have been reported in the medical literature. The true prevalence of this disorder is unknown. Most cases become apparent soon after birth, but it is also believed by some that there is a later-onset form that becomes apparent six to eight weeks after birth in infants that, until then, have appeared healthy. MVID affects more females than males with a sex ratio of about 2:1.", "related-disorders": "Symptoms of the following disorders can be similar to those of microvillus inclusion disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lactose intolerance is a malabsorption syndrome that results from impaired absorption of a sugar found in milk (lactose). This nutrient is normally absorbed in the small bowel. Lactose intolerance is characterized by diarrhea and abdominal distention causing stomach pain and gas (flatulence) that occurs after drinking milk. A lack of one or more intestinal enzymes results in an inability to digest certain carbohydrates. Lactase, maltase, isomaltase, and sucrase usually split complex sugars into simple sugars. In patients with lactose intolerance, the enzyme, lactase, which digests this sugar in the small bowel, is lacking. Patients with MVID also display carbohydrate malabsorption because of lack of development of the intestinal brush border.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79078", "name_zh": "IgG4相关性泪腺和唾液腺炎", "Name": "Mikulicz Syndrome", "disease_name": "Mikulicz Syndrome", "synonyms": "Dacryosialoadenopathia", "disease-overview": "Mikulicz syndrome is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids) and those around the eyes (lacrimal) and mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck may also be involved. Although the disorder is almost always described as benign, it always occurs in association with another underlying disorder such as tuberculosis, leukemia, syphilis, Hodgkin’s disease, lymphosarcoma, Sjögren syndrome, or lupus (SLE). People who have Mikulicz syndrome are at heightened risk for developing lymphomas.", "symptoms": "Mikulicz syndrome is characterized by the sudden onset of extreme dryness in the mouth (xerostomia) that may lead to difficulty swallowing and tooth decay.  Other symptoms include enlarged tear glands (lacrimal glands), leading to absent or decreased tears; enlarged glands in the neck (parotid glands); hard, painless swellings (tumefactions) of the saliva glands (salivary glands) of the mouth and those near the ears (parotid).   Glands near the jaw (submaxillary) may also become swollen.  Symptoms may persist for long periods of time or come and go with frequent recurrences. The symptoms of Mikulicz syndrome are very similar to those of Sjögren syndrome and some researchers suspect that they may be the same disorder (see Related Disorders section of this report).", "causes": "The exact cause of Mikulicz syndrome is not known, although it is suspected to be an autoimmune disorder.  Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons.", "affected": "Mikulicz syndrome affects more females than males and most often presents during the middle adult years.", "related-disorders": "Symptoms of the following disorders can be similar to those of Mikulicz Syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mumps is an acute viral illness that causes painful inflammation and swelling of the salivary glands, including the parotid, submaxillary, sublingual, and buccal glands.  At one time, Mumps was a common infectious disease of childhood.  However, a vaccine against this disease was developed in 1967.  The onset of the illness is marked by headache, loss of appetite, a general feeling of ill health (malaise), and a low to moderate fever.  Within 24 hours, the temperature rises to approximately 104.0F and is usually associated with pain and swelling of the glands in front of the ears (parotid) and under the jaw (submaxillary).  (For more information on this disorder, choose Mumps as your search term in the Rare Disease Database.)", "therapies": "Biopsy of one of the swollen glands is key to the diagnosis of Mikulicz syndrome. An ultrasound examination of the area may help to rule out other reasons for gland swelling. Treatment of this disorder is symptomatic. Medical therapies are more productively directed toward the treatment of any underlying disease. Artificial tears may be used to maintain moisture in the eyes, and artificial saliva may be used to treat oral symptoms."}
{"OrphaCode": "ORPHA:558", "name_zh": "马方综合征", "Name": "Marfan syndrome", "disease_name": "Miller Fisher Syndrome", "synonyms": "MFS", "disease-overview": "", "symptoms": "MFS has three defining features:", "causes": "MFS is an autoimmune disease in which antibodies against a bacterial or viral infection cross-react with and attack the nerves. The site of attack may be the myelin sheaths, which insulate and protect the nerve fibers (axons) or the axons themselves. The principal autoantibody is directed against a molecule called ganglioside GQ1b, which is especially present on the nerves affected. The antibody is present in the blood of at least 80% of people with MFS and can be used to confirm the diagnosis.", "affected": "MFS is rare, affecting only one to two people per million each year in most parts of the world and is more common in East Asia. MFM affects children and adults, is more common in males than females and in the young than the old. The average age of onset is 45 years.", "related-disorders": "Rarely, patients only have single components of MFS such as ophthalmoplegia (paralysis of eye movements) or ataxia (incoordination). MFS can progress to involve the limb and respiratory muscles, and this is called the MFS-GBS overlap syndrome. Researchers have not yet found a way to predict which patients will progress from MFS into more severe disease, but in one series progression always occurred during the first week.", "diagnosis": "MFS is often hard to diagnose because it is rare and can mimic other neurologic diseases such as myasthenia gravis, botulism, diphtheria, brain stem stroke, brain stem encephalitis and basal meningitis. Physicians should have a high index of suspension, rule out similar diseases and consider testing for anti-GQ1b antibody to help diagnose Miller Fisher syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:246", "name_zh": "轴后面骨发育不全", "Name": "Postaxial acrofacial dysostosis", "disease_name": "Miller Syndrome", "synonyms": "POADS", "disease-overview": "", "symptoms": "The specific symptoms associated with Miller syndrome may vary from one person to another. Affected individuals may develop a variety of craniofacial and limb abnormalities. Most abnormalities are noticeable at birth.", "causes": "Miller syndrome is caused by mutations in the dihydroorotate dehydrogenase (DHODH) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Miller syndrome is a rare disorder with an estimated prevalence of approximately 1 case per 1 million newborns. Because cases may go undiagnosed or misdiagnosed, determining the true frequency in the general population is difficult. Fewer than 75 cases have been described in the medical literature. Males and females are affected in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Miller syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Miller syndrome is based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic physical findings. Many of the associated abnormalities are present at birth (congenital).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:298", "name_zh": "线粒体神经胃肠型脑肌病", "Name": "Mitochondrial neurogastrointestinal encephalomyopathy", "disease_name": "Mitochondrial Neurogastrointestinal Encephalopathy", "synonyms": "MEPOP", "disease-overview": "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract causing gastrointestinal dysmotility, weakness of extra-ocular muscles causing drooping of the eyelids (ptosis) and restricted eye movements (ophthalmoparesis), degeneration of peripheral nerves causing altered sensation and weakness the distal arms and legs, and general wasting (cachexia). The specific symptoms associated with MNGIE vary from case to case and may include vomiting, nausea, diarrhea, abdominal pain, and numbness or sensations of pins and needles in the hands and feet. . Additional findings may occur in some cases. MNGIE is caused by changes (mutations) in the TYMP gene encoding thymidine phosphorylase (TP) and is inherited as an autosomal recessive trait.", "symptoms": "The symptoms and severity of MNGIE vary from case to case. Onset of symptoms is usually before 20 years of age, but may range from 5-60 years of age. MNGIE is characterized by a variety of gastrointestinal and neurological findings.", "causes": "MNGIE is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "MNGIE is an extremely rare disorder that affects males and females in equal numbers. The prevalence is unknown and as of 2011 fewer than 200 cases have been reported in the medical literature. Researchers believe that the disorder often goes unrecognized or misdiagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of MNGIE. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of MNGIE is suspected based upon a detailed patient history, a thorough clinical evaluation, identification of characteristic findings, and a variety of specialized tests such as blood tests or magnetic resonance imaging (MRI). Blood tests may reveal elevated lactic acid. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. In individuals with MNGIE, it is used to demonstrate asymptomatic leukoencephalopathy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2233", "name_zh": "性腺功能减退-二尖瓣脱垂-智力障碍综合征", "Name": "Mitral Valve Prolapse Syndrome", "disease_name": "Mitral Valve Prolapse Syndrome", "synonyms": "Barlow Syndrome", "disease-overview": "The mitral valve is the valve between the left upper and left lower chambers (left atrium and left ventricle) of the heart. Mitral valve prolapse syndrome (MVP) is a common condition in which one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left atrium during ventricular contraction (systole). In some cases, this may allow leakage or the backward flow of blood from the left ventricle back into the left atrium (mitral regurgitation).", "symptoms": "In many individuals with mitral valve prolapse syndrome (MVP), no symptoms are apparent (asymptomatic) and the condition is often nonprogressive.  However, others with MVP may develop fatigue, difficulty breathing (dyspnea) with exertion, awareness of the heart beat and a pounding or racing of the heart (palpitations), and abnormal heart rhythms (arrhythmias).  Additional signs may include lightheadedness, fainting episodes (syncope), abnormally low blood pressure upon standing (orthostatic hypotension), headaches, chest pain, and/or other symptoms and findings.", "causes": "The specific underlying mechanism responsible for mitral valve prolapse syndrome (MVP) is unknown.  However, evidence indicates that various changes of the mitral valve or the lower left chamber of the heart (left ventricle) may lead to MVP.  Such abnormalities may include excessive or redundant mitral valve flap (cusp) tissue and/or elongation of the strands of tendon (chordae tendinea) that anchor the cusps to certain muscles (papillary muscles) of the ventricle.", "affected": "Although mitral valve prolapse syndrome (MVP) has been reported in individuals of various ages, it is most commonly noted in young adults.  Estimates indicate that MVP affects approximately four to eight percent of young adults in the general population, with females affected more commonly than males.", "related-disorders": "As noted above, mitral valve prolapse syndrome may occur as an isolated condition or in association with various underlying disorders or syndromes.  For further information, please see the Causes section above or use the disease name in question as your search term in the Rare Disease Database.", "diagnosis": "Mitral valve prolapse syndrome (MVP) may be diagnosed based upon thorough clinical examination, a complete patient and family history, and various tests. The condition is often recognized through use of a stethoscope during routine physical examination, based upon detection of a characteristic clicking sound or sounds (systolic clicks) and/or a subsequent, delayed, high-pitched murmur (late systolic regurgitation murmur). The diagnosis may be confirmed based upon specialized imaging techniques, particularly echocardiography, during which sound waves are directed toward the heart, enabling physicians to identify abnormal positioning and prolapse of the mitral valve flaps. In some cases, additional cardiac and other diagnostic studies may be recommended to help confirm and assess the severity of potentially associated abnormalities, such as accompanying regurgitation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:809", "name_zh": "混合性结缔组织病", "Name": "Mixed connective tissue disease", "disease_name": "Mixed Connective Tissue Disease", "synonyms": "MCTD", "disease-overview": "Mixed connective tissue disease (MTCD) is an uncommon systemic inflammatory rheumatic condition. MCTD is a specific subset of the broader category of rheumatic overlap syndromes, a term used to describe when a patient has features of more than one classic inflammatory rheumatic disease. These classic rheumatic diseases include systemic lupus erythematosus, polymyositis, scleroderma and rheumatoid arthritis. Individuals with an overlap syndrome may, but need not meet, complete diagnostic criteria for one (or more than one) classic rheumatic disease. MCTD is distinguished from other overlap syndromes by a laboratory result: MCTD patients have rheumatic overlap syndrome plus anti-RNP antibodies. Additionally, it has been proposed that the term MCTD be reserved for patients with clinical features that include at least one of the following common manifestations: Raynaud’s phenomenon, puffy fingers or swollen hands.", "symptoms": "Individuals with MCTD have symptoms that overlap with those of two or more inflammatory rheumatic diseases. These diseases, in which autoimmunity, excess immune activation and inflammation are hallmarks, include systemic lupus erythematosus, polymyositis, scleroderma and rheumatoid arthritis. (For more information on these disorders, see the Related Disorders section of this report.) While inflammatory rheumatic diseases have at times been referred to as connective tissue diseases, this can cause confusion with other conditions which are characterized by biochemically abnormal connective tissues (such as Ehlers-Danlos syndrome or Marfan syndrome) in which autoimmunity, excess immune reactions and inflammation need not occur, and which are not part of MCTD.", "causes": "MCTD is caused by immune reactions against self (autoimmunity). The anti-RNP immune response that helps define the disease also appears to mediate some of the damage it induces. The RNP molecules are usually in the nucleus of all human cells, where they help to manufacture messenger RNA, and where the immune system cannot find them. However, in dead or dying cells, RNP molecules can become exposed to the immune system. Since RNP molecules are nearly identical in humans to their counterparts in single celled organisms without immune systems, the human immune system can be fooled into responding to RNP as if it were from a dangerous invader.", "affected": "The onset of MCTD can occur anytime from early childhood to elderly adulthood, but the average age of onset is 37 years. Approximately 75 percent of patients are female. The point prevalence of MCTD has been found to be 3.8 per 100,000 adults in Norway, and is thought to be similar in many other parts of the world, though much higher prevalence of MCTD has been noted in some countries, notably in Japan.", "related-disorders": "The symptoms of the following disorders can be similar to those of MCTD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Systemic lupus erythematosus (lupus) is a chronic, autoimmune disorder in which multiple targets are attacked, typically including dead cell debris and connective tissue structures. In autoimmune disorders, the body’s own immune system attacks cells and tissues causing inflammation and malfunction of various organ systems. In lupus, organ systems often involved include the skin, kidneys, blood and joints. Many different symptoms can be associated with lupus, but most affected individuals do not experience all of the symptoms. In many patients, lupus may be a mild disorder affecting only a few organ systems. In other patients, it may result in serious complications.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91138", "name_zh": "冷球蛋白血症血管炎", "Name": "Cryoglobulinemic vasculitis", "disease_name": "Mixed Cryoglobulinemia", "synonyms": "Cryoglobulinemic Vasculitis", "disease-overview": "", "symptoms": "The symptoms and physical findings of mixed cryoglobulinemia can vary greatly from one individual to another. Many different organ symptoms can be potentially become involved. Some individuals will only exhibit one manifestation of the disorder; others will exhibit symptoms of multiple organ systems.", "causes": "Mixed cryoglobulinemia is a multifactorial disorder, which means that several different factors such as genetic, environmental and immunogic ones occurring in combination are necessary for the development of the disorder. The specific factors involved in the development of mixed cryoglobulinemia have not been conclusively identified.", "affected": "Mixed cryoglobulinemia is believed to be a rare disorder, but the exact incidence and prevalence in the general population is unknown. Less than 1% of HCV-infected patients in Northern Europe and North America develop cryoglobulinemia while 2-5% of HCV-infected patients in South Europe develop the disorder. Mixed cryoglobulinemia most often presents in individuals between the ages of 40-60. Females are affected three times as often as males. Approximately 90% of cases of mixed cryoglobulinemia are associated with infection with the hepatitis C virus.", "related-disorders": "Symptoms of the following disorders can be similar to those of mixed cryoglobulinemia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of mixed cryoglobulinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a blood test to detect the presence of cryoglobulins.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:570", "name_zh": "Moebius综合征", "Name": "Moebius syndrome", "disease_name": "Moebius Syndrome", "synonyms": "congenital facial diplegia syndrome", "disease-overview": "", "symptoms": "The abnormalities and severity of Moebius syndrome vary greatly from one person-to-another. The classically accepted diagnostic criteria include: 1) facial paralysis or weakness affecting at least one but usually both sides of the face (7th cranial nerve), 2) paralysis of sideways (lateral) movement of the eyes (6th cranial nerve); and 3) preservation of vertical movements of the eyes. Less often, other cranial nerves, including the 5th, 8th, 9th, 10th, 11th, and 12th may be affected.", "causes": "Most cases of Moebius syndrome occur randomly for unknown reasons (sporadically) in the absence of a family history of the disorder. The syndrome is listed as Online Mendelian Inheritance in Man (OMIM) Number 15700, with a gene map locus of 13q12.2-q13. Sporadic mutations in PLXND1 and REV3L genes have also been identified in a number of patients and confirmed to cause a constellation of findings consistent with Moebius syndrome when introduced in animal models.", "affected": "Moebius syndrome affects males and females in equal numbers. The disorder is present at birth (congenital). The exact incidence and prevalence rates of Moebius syndrome are unknown. One estimate places the incidence at 1 case per 50,000 live births in the United States.", "related-disorders": "Symptoms and signs of the following disorders can be similar to those of Moebius syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Moebius syndrome is based upon the characteristic signs/symptoms, a detailed patient history, and a thorough clinical evaluation. There are no diagnostic tests that confirm a diagnosis of Moebius syndrome. Some specialized tests may be performed to rule out other causes of facial palsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99732", "name_zh": "钼辅因子缺乏所致亚硫酸盐氧化酶缺乏", "Name": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency", "disease_name": "Molybdenum Cofactor Deficiency", "synonyms": "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase", "disease-overview": "", "symptoms": "Early-onset MoCD", "causes": "MoCD is caused by disease-causing (pathogenic) variants in the MOCS1 gene (type A), the MOCS2 gene (type B) or the GPHN gene (type C). Variants in the MOCS3 gene have also been reported as a rare cause of MoCD type B. Variants in any one of these genes can disrupt the way the body processes sulfur and sulfur-containing compounds. The resulting accumulation of sulfites in the body is toxic to nerve cells and white matter in the brain and causes nervous system and brain damage that gets worse over time.", "affected": "MoCD is extremely rare and the exact number of people with this condition is unknown. Less than 200 patients have been reported in the medical literature, and it has been diagnosed in people from all ethnic and racial groups. About half of the patients described have MoCD type A, and most of the rest have MoCD type B. Type C has only been described in a few families. It has been estimated that about 1 in 100,000 to 1 in 200,000 people are born with MoCD.", "related-disorders": "Isolated sulfite oxidase deficiency (ISOD) has very similar symptoms to MoCD and also has an early-onset and late-onset form. The classic early-onset form begins in infancy with symptoms that include seizures that are difficult to treat and feeding difficulties. Individuals with ISOD develop brain damage that gets worse with time. Involuntary muscle movements, muscle stiffness, breathing difficulties and unusual spine and neck arching can occur. Over time, babies with classic ISOD stop responding to their environment except for an exaggerated startle reflex. They usually do not live for more than a few months. Affected individuals who survive past infancy usually develop displacement of the eye lens (ectopia lentis). In the less common, late-onset form, symptoms occur after an illness, and include muscle spasms, low muscle tone, vison problems and developmental delay. In some individuals, the symptoms go away, and in others, the symptoms get worse. The long-term outlook for people with late-onset ISOD is unknown because it is so rare.  ISOD is caused by variants in the SUOX gene and is inherited in an autosomal recessive pattern in families. Laboratory and genetic testing are necessary to distinguish between MoCD and ISOD.", "diagnosis": "MOCD is diagnosed based on the symptoms, clinical examination, a detailed family history and laboratory testing. Laboratory tests include blood tests looking for a decreased level of uric acid and urine tests looking for high levels of chemicals called sulfite, S-sulfocysteine, xanthine and hypoxanthine. In addition, an MRI of the brain can be helpful for looking for differences between hypoxic-ischemic brain injury and MoCD.", "therapies": "There is no cure for MoCD. Treatment is based on managing the symptoms. Many different types of specialists may be involved in the care of people with MoCD, including neurologists, developmental specialists, nutritionists, ophthalmologists and gastroenterologists."}
{"OrphaCode": "ORPHA:573", "name_zh": "念珠状毛发", "Name": "Monilethrix", "disease_name": "Monilethri", "synonyms": "", "disease-overview": "Monilethrix is a rare inherited disorder characterized by sparse, dry, and/or brittle hair that often breaks before reaching more than a few inches in length. The hair may lack luster, and there may be patchy areas of hair loss (alopecia). Another common symptom may be the appearance of elevated spots (papules) surrounding the hair follicles that may be covered with gray or brown crusts or scales (perifollicular hyperkeratosis). When viewed under a microscope, the hair shaft resembles a string of evenly-spaced beads. In most cases, monilethrix is inherited as an autosomal dominant trait.", "symptoms": "In most cases of monilethrix, the hair is normal at birth; it may then be slowly replaced by abnormal hair during the first few months to two years of life. In some rare cases, the hair may be abnormal at birth (congenital). The hair may be sparse, dry, lusterless, and/or brittle. In addition, the hair is unusually short and breaks off before growing longer than a few inches.", "causes": "In most cases, monilethrix is inherited as an autosomal genetic trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Monilethrix affects males and females in equal numbers.  The exact number of people affected by this disorder is not known.  Monilethrix may be apparent at birth or by the age of two years.  In some cases, the symptoms may improve at puberty or during pregnancy; in other cases, the symptoms may remain the same throughout life.", "related-disorders": "Symptoms of the following disorders can be similar to those of Monilethrix.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Alopecia Areata is a rare disorder characterized by the progressive loss of hair.  It often begins suddenly with oval or round bald patches appearing on the scalp; however, other areas of hairy skin may also be involved.  Gradually, the affected skin becomes white and smooth.  The hair may regrow in these areas within weeks; at the same time, additional patches of hair loss may occur elsewhere.  In some cases, hair regrowth may occur in one area of the scalp but not in others; in other cases, the loss of hair may be permanent and lead to baldness.  In a few rare cases, all body hair may be lost.  Cases with onset during childhood tend to be more severe than those with an adult onset.  The exact cause of Alopecia Areata is not known.  (For more information on this disorder, choose Alopecia Areata as your search term in the Rare Disease Database.)", "therapies": "The diagnosis of monilethrix may be confirmed by a thorough clinical evaluation and microscopic examination of the hair. When viewed under a microscope, the hair resembles a string of evenly-spaced beads."}
{"OrphaCode": "ORPHA:96068", "name_zh": "22号染色体嵌合体", "Name": "Mosaic trisomy 22", "disease_name": "Mosaic Trisomy 22", "synonyms": "mosaic trisomy chromosome 22", "disease-overview": "", "symptoms": "The symptoms and physical findings associated with Mosaic trisomy 22 may depend on the percentage and distribution of cells containing the extra 22nd chromosome. However, the disorder is often characterized by (1) growth and developmental delays, (2) asymmetric body development, and (3) congenital heart diseases.", "causes": "There are 23 pairs of human chromosomes, or a total of 46 chromosomes. Mosaic trisomy 22 is characterized by an extra copy of the chromosome 22 (trisomy) in some of the body cell populations. This could be due to an error during the division of reproductive cells in one of the parents or during cellular division after fertilization. The disorder can also occur in association with uniparental disomy, an abnormality in which an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. The presence of the additional chromosome 22 in some groups of cells is responsible for the symptoms and physical findings of the disorder.", "affected": "There have been about 20 reports of live born children with mosaic trisomy 22. It is speculated that children with mosaic trisomy 22 with minimal physical findings and normal development are under diagnosed. The condition appears to occur in females more frequently than in males (approximately 3 females: 2 males).", "related-disorders": "Symptoms of the following disorders can be similar to those of Chromosome 22, Trisomy Mosaic. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of trisomy mosaic 22 may be suggested before birth (prenatally) by specialized tests such as ultrasound and amniocentesis. Fetal ultrasound is a non-invasive imaging technique that utilizes high-frequency sound waves to produce image of fetus in the uterus. Abnormal results during ultrasound may prompt to more invasive test such as amniocentesis. During amniocentesis, a sample amniotic fluid (AF) that surrounds the fetus is removed and analyzed. Chromosomal analysis of either AF or chorionic tissues can reveal the presence of mosaic trisomy 22. Karyotyping from AF is not sufficient to confirm a definitive diagnosis. Diagnostic confirmation may require fetal blood sampling or fetal skin biopsy (fetal fibroblast).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99776", "name_zh": "9号染色体嵌合型三体", "Name": "Mosaic trisomy 9", "disease_name": "Mosaic Trisomy 9", "synonyms": "trisomy 9 mosaic", "disease-overview": "Mosaic trisomy 9 is a rare chromosomal disorder in which the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body. The term mosaic indicates that some cells contain the extra chromosome 9, while others have the typical chromosomal pair. Mosaic trisomy 9 may be caused by errors during the division of a parent’s egg or sperm or during the division of body tissue cells (somatic cells) early in the development of the fetus.", "symptoms": "As noted above, mosaic trisomy 9 is characterized by an extra 9th chromosome (trisomy 9) in some cells of the body (mosaicism). The range and severity of associated features is variable depending on the percentage of cells in the body with an extra chromosome 9 (trisomic cells). In addition, rare cases have also been reported in which all body cells have appeared to be trisomic for all of chromosome 9; such nonmosaic cases are sometimes referred to as full trisomy 9 syndrome. According to investigators, in such patients, characteristic clinical features and affected organs may not substantially differ from those seen with trisomy 9 mosaicism. However, symptoms and findings associated with the latter may tend to be less severe in some cases due to the percentage of cells with an extra chromosome 9. Results of testing for mosaicism can also vary depending on the type of sample (e.g., blood, saliva) and age of the individual.", "causes": "In individuals with mosaic trisomy 9, the entire 9th chromosome appears three times (trisomy) rather than twice in some cells of the body (mosaicism). Chromosomes are found in the nucleus, or central part, of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q, and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, the short arm of chromosome 9 includes bands 9p11 to 9p24, and the long arm includes bands 9q11 to 9q34.", "affected": "Mosaic trisomy 9 appears to affect males and females of all ethnicities in relatively equal numbers. Some research has found more females with this diagnosis. Since the disorder was originally described in 1973 (Haslam RH), over 100 cases have been reported in the medical literature.", "related-disorders": "Certain symptoms and findings associated with the following disorders may be similar to those of mosaic trisomy 9. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Oculo-auriculo-vertebral (OAV) spectrum usually appears to occur sporadically in the absence of a family history. However, in some cases, more than one family member has been affected, suggesting autosomal dominant or autosomal recessive inheritance. Some researchers indicate that the disorder may be caused by the interaction of multiple genes, possibly in association with environmental factors. (For further information, choose OAV spectrum as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2152", "name_zh": "Mowat-Wilson综合征", "Name": "Mowat-Wilson syndrome", "disease_name": "Mowat-Wilson Syndrome", "synonyms": "MWS", "disease-overview": "Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, eye (ophthalmologic) defects, heart (cardiac) defects, kidney (renal) abnormalities, male genital abnormalities and short stature. Some affected individuals may not be recognized until childhood or adulthood, especially when Hirschsprung disease is not present. MWS is caused by a disease-causing variant in the ZEB2 gene that is usually not inherited from a parent.", "symptoms": "MWS is associated with a range of physical symptoms as well as intellectual disability. Most people with MWS have a severe intellectual disability, though a small number have milder features and only moderate intellectual disability. People who have MWS typically have a distinctive facial appearance, absent or severely limited speech and often have seizures. Some physical problems may present at birth or infancy. These include the intestinal disorder Hirschsprung disease in about half, problems with development of the kidneys and male genitalia (hypospadias), congenital heart defects, eye problems and absence of the area of the brain which connects the two cerebral hemispheres (agenesis of the corpus callosum). Later features may include small head size (microcephaly) and short stature. MWS specific growth charts now are available to track growth. Chronic constipation may occur even in those who do not have Hirschsprung disease. Constipation in people with MWS needs investigation in view of the possibility of very short segment Hirschsprung disease.", "causes": "MWS is an autosomal dominant genetic disorder caused by an variant in the gene called ZEB2. This variant leads to either loss of function (common) or decreased function (rare) of this gene. Genes provide the instructions for making a protein that plays a critical role in the formation of many organs and tissues of the body before birth. When a variant occurs in one copy of this gene, the protein produced may be faulty, inefficient or absent. This affects the development of many organs and tissues throughout the body especially the brain. MWS almost always occurs as a new (sporadic or de novo) variant. This means that in nearly all cases, the gene variant has occurred at the time of formation of the egg or sperm for that child only, and no other family member will be affected. It is usually not inherited from, or carried by, a healthy parent.", "affected": "MWS affects both males and females. It is estimated to occur in 1 in 50,000-100,000 births. MWS has been described in many different countries and ethnic groups around the world.", "related-disorders": "Symptoms of the following disorders may overlap with those of Mowat-Wilson syndrome. Comparisons may be useful for a differential diagnosis. There are over 100 syndromes associated with Hirschsprung disease.", "diagnosis": "MWS is usually diagnosed during infancy or childhood, based upon a thorough clinical evaluation, identification of characteristic physical findings and facial appearance, and information from a variety of specialized tests. Many of these features become more pronounced with time and so the diagnosis is easier to make in older individuals.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2573", "name_zh": "烟雾病", "Name": "Moyamoya disease", "disease_name": "Moyamoya Disease", "synonyms": "moyamoya syndrome", "disease-overview": "Moyamoya disease is a progressive disorder that affects the blood vessels in the brain (cerebrovascular). It is characterized by the narrowing (stenosis) and/or closing (occlusion) of the carotid artery inside the skull, a major artery that delivers blood to the brain. At the same time, tiny blood vessels at the base of the brain open up in an apparent attempt to supply blood to the brain distal to the blockage. These tiny vessels are the moyamoya vessels for which the disease was named. Inadequate blood supply then leads to reduced oxygen delivery to the brain, and it is this oxygen deprivation that causes the signs of moyamoya. One of the symptoms is typically stroke, which results in paralysis of the face, arms or legs, loss of speech, etc., or temporary loss of neurologic function of body parts or speech (transient ischemic attacks, or TIA). Other symptoms that may result include headaches, visual disturbances, developmental delay, and seizures. Approximately 10-30% of cases of moyamoya in Asian countries have a genetic cause. Patients with this arteriopathy that occurs either on a familial or idiopathic basis are said to have moyamoya disease. Patients in whom the artery changes occur in association with another process such as sickle cell disease or Down syndrome are said to have moyamoya disease. In this report, we use the term moyamoya disease as shorthand for both forms.", "symptoms": "Although moyamoya disease may occur at any age, there are two peak incidence periods –between the ages of five and ten years in children, and between 30 to 50 years in adults. Children with moyamoya disease may present with a variety of symptoms, but most present with those related to reduced brain blood supply, including stroke, TIAs, headaches, seizures, involuntary movements or occasionally progressive developmental delay.", "causes": "The causes of moyamoya disease are unknown in many cases. However, it is increasingly recognized that gene changes (mutations or variants) particularly variants that may impair the ability of smooth muscle cells in the walls of affected arteries, to contract normally, are present in many patients. It is also important to note that moymoya is found in association with a number of different underlying disorders, as noted above.", "affected": "In Japan, moyamoya disease typically occurs in females under the age of 20. In Japan, the disease is estimated to occur in 1 per 300,000 people. Although moyamoya was originally reported in individuals of Japanese ancestry, cases have been reported from elsewhere in Asia as well as from Europe, North and South America and most series reported in the western hemisphere have a minority of patients of Asian descent. Of note, most patients in North America are isolated cases, with recent literature suggesting that less than 4% of cases in this population are familial. (Gaillard 2017)", "related-disorders": "Symptoms of the following disorders can be similar to those of moyamoya disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In children, any cause of occlusion or narrowing of blood vessels that supply the brain might present with symptoms similar to moyamoya. These conditions include dissection of neck or brain blood vessels (spontaneous or trauma-induced bleeding into the blood vessel wall, which both narrows the vessel and causes the formation of blood clot in the vessel), sickle cell disease (which causes clotting in major blood vessels in the brain) and inflammatory conditions, such as vasculitis, etc. In adults, strokes have multiple causes, including atherosclerosis of cerebral blood vessels, clots that lodge in brain blood vessels originating in the heart or from narrowed areas in the neck blood vessels, etc. Bleeding within the brain has multiple causes, and a discussion of differential diagnoses is beyond the scope of this article.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:575", "name_zh": "Muckle-Wells综合征", "Name": "Muckle-Wells syndrome", "disease_name": "Muckle-Wells Syndrome", "synonyms": "MWS", "disease-overview": "Muckle-Wells syndrome (MWS) is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. These syndromes are characterized by fever, rash and joint pain.", "symptoms": "Common symptoms of MWS include recurrent rashes beginning in infancy or early childhood, intermittent fevers, joint pain (usually with no apparent changes in tissue and cartilage), recurrent conjunctivitis (the inflammation of the outer most layer of the eye causing redness, discomfort and discharge from the eye), progressive hearing loss and amyloidosis. Symptoms can be unprecipitated, but can also be triggered by cold exposure as well as stress or exercise. Episodes generally last between 24 to 48 hours.", "causes": "MWS is usually inherited in an autosomal dominant condition and is caused by a heterozygous mutation in the CIAS1/NLRP3 gene that codes for the protein cryopyrin (NALP3). Mutations in this gene are hypothesized to cause increased activity of a protein complex containing cryopyrin. This protein complex is known as the inflammasome and regulates inflammation in the body. Increased inflammasome activity results in increased release of a protein known as interleukin (IL) 1ß, which leads to symptoms of inflammation such as fever and joint pain.", "affected": "Since MWS is a newly discovered condition, the actual incidence and prevalence of the disease are difficult to determine.", "related-disorders": "Symptoms of the following disorders can be similar to those of Muckle-Wells syndrome and there is significant phenotypic overlap. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of MWS is determined through an evaluation of a patient’s symptoms. Confirmation of the diagnosis is achieved through genetic testing and the identification of a CIAS1/NLRP3 mutation, although not all MWS patients possess a mutation in this gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:578", "name_zh": "粘脂贮积症IV型", "Name": "Mucolipidosis IV", "disease_name": "Mucolipidosis IV", "synonyms": "Berman Syndrome", "disease-overview": "Mucolipidosis IV is a rare metabolic disorder characterized by intellectual disability; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and progressive degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is inherited as an autosomal recessive genetic trait and caused by mutations in the MCOLN1 gene.", "symptoms": "The severe form of the disease is called typical mucolipidosis IV, and the mild form is called atypical mucolipidosis IV. Approximately 95 percent of individuals diagnosed with this condition have the severe form.", "causes": "Mucolipidosis IV is inherited as an autosomal recessive genetic trait. The responsible gene has been isolated and its protein-product, as well as its chromosomal location, determined. The gene, designated MCOLN1, has been tracked to 19p13.3-p13.2 where it encodes for the mucolipin-1 protein. Mutations in this gene result in a deficiency of transport channel receptor protein. The exact function of this protein is still unknown. The effect of mutations on patient and animal model cells indicates a loss of regulation on intracellular traffic which eventually affects various tissue functions.", "affected": "Mucolipidosis IV is a rare inherited metabolic disorder that affects males and females in equal numbers. The disorder was first identified in 1974 and as of 2010, 70 cases have been reported in the medical literature.  The precise incidence is unknown, but is estimated to be approximately 1:40,000. About 70% of those diagnosed are of Ashkenazi Jewish ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of mucolipidosis IV. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Clinically the more severe cases of MLIV tend to be misdiagnosed as cerebral palsy, a group of developmental diseases with no known genetic cause. This can be easily corrected by testing blood gastrin level, which is increased in MLIV patient due to the inability to produce stomach acid. In milder cases the disease does not affect the development of children, but vision deteriorates with age and some aspects of eye abnormalities exist in the patients.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:582", "name_zh": "黏多糖贮积症Ⅵ型", "Name": "Mucopolysaccharidosis type 4", "disease_name": "Mucopolysaccharidosis IV", "synonyms": "MPS IV", "disease-overview": "", "symptoms": "Symptoms of MPS IV may include growth delays; a prominent lower face; abnormal sideways and front-to-back or side-to-side curvature of the spine (kyphoscoliosis) or concern for a spine abnormality; an abnormally short neck; knees that are abnormally close together (knock knees or genu valgum); flat feet; abnormal development of the growing ends of the long bones (epiphyses); hip dislocation and arthritis and/or a prominent breast bone (pectus carinatum). Hearing loss, weakness of the legs, and/or additional abnormalities may also occur.", "causes": "MPS IVA is an autosomal recessive genetic disorder caused by deficiency of the GALNS enzyme due to mutations in the GALNS gene.", "affected": "MPS IV affects males and females equally often. Estimates of prevalence range from 1/40,000 to 1/200,000 births. MPS IVA (95% of individuals affected by MPS IV) occurs more often than MPS IVB (5% of affected individuals).", "related-disorders": "Mutations in the GLB1 gene can also be associated with a different lysosomal storage disease called GM1 gangliosidosis, an autosomal recessive genetic disorder that progressively destroys nerve cells in the brain and spinal cord.", "diagnosis": "MPS IV diagnosis is suggested by the findings of medical history, physical examinations, skeletal X-rays, and urine glycosaminoglycans (GAG) analysis. Excessive amounts of keratan sulfate will usually be present in the urine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:579", "name_zh": "粘多糖贮积症1型", "Name": "Mucopolysaccharidosis type 1", "disease_name": "Mucopolysaccharidosis Type I", "synonyms": "alpha-L-iduronidase deficiency", "disease-overview": "", "symptoms": "The specific signs and symptoms seen in MPS I are highly variable and depends on numerous factors including what form of MPS I a child has, when treatment was first started, and how an individual child responds to various treatment options. It is important to note that MPS I is a progressive disorder and therefore the symptoms that a child has are also related to the age of the child at the time of diagnosis. The age of onset, disease severity, degree of intellectual disability, and rate of progression vary significantly among affected individuals.", "causes": "Mucopolysaccharidosis type I is caused by a variation (mutation, pathogenic sequence variant) in the alpha-L-iduronidase (IDUA) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Mucopolysaccharidosis type I affects males and females in equal numbers, with an incidence of about 1 in 100,000 live births for the severe type, and an incidence of about 1in 500,000 live births for the attenuated type. Incidence is the number of people who develop a disorder over a given period of time (e.g. one year). The incidence for MPS disorders collectively is about 1 in 25,000. However, rare disorders, especially milder forms of MPS, often go misdiagnosed or undiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of mucopolysaccharidosis type I. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of mucopolysaccharidosis type I is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be suspected in infants with characteristic early signs. Currently newborn screening for MPS I is being implemented in many areas.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:580", "name_zh": "粘多糖贮积症2型", "Name": "Mucopolysaccharidosis type 2", "disease_name": "Mucopolysaccharidosis Type II", "synonyms": "MPS II", "disease-overview": "", "symptoms": "In the neuronopathic form of this disorder, physical and mental development reaches a peak at 2-4 years of age with subsequent deterioration. Recurrent upper respiratory infections, a chronic runny nose, hearing impairment, liver and spleen enlargement, inguinal and abdominal hernias, joint stiffness and multiplex dysplasia, compression of tendons in the wrist (carpal tunnel syndrome), and joint stiffness which can result in reduction of hand function, growth failure and valvular disease commonly occur with this form of MPS II. Coarsening of the facial features with thickening of the nostrils, lips and tongue usually occur between 2 and 4 years of age. Hydrocephalus (fluid buildup in the cavities deep within the brain) is commonly found in this form of MPS II after 4 years of age. Thick skin, short neck, widely spaced teeth, and hearing loss of varying degree are also commonly present. Nodular skin lesions on the arm or the posterior chest wall, extra- high arched feet (pes cavus) and diarrhea may also occur.", "causes": "The gene responsible for MPS II is known as the iduronate 2-sulfatase (IDS) gene. In many individuals with MPS II, the condition is caused be relatively small changes (e.g., certain missense or nonsense mutations) in the IDS gene, or deletion or insertion of genetic material (e.g., single-base deletions or insertions) that affects gene function. Less commonly, MPS II may result from complete absence or major structural changes of the IDS gene, linking to a neuronopathic disease. Different mutations or structural changes of the gene account for the wide variability of symptoms and findings associated with the disorder (i.e., neuronopathic and non-neuronopathic types).", "affected": "MPS II typically affects only males, with symptoms becoming apparent at approximately 2-4 years of age. The disorder occurs in approximately 1 in 100,000 to 1 in 170,000 male births. A few affected females have been described, due to the selective inactivation of the X chromosome inherited by the father.", "related-disorders": "There are many types of mucopolysaccharidoses that have similar symptoms. (For more information, choose mucopolysaccharidosis as your search term in the Rare Disease Database.)", "diagnosis": "The signs and symptoms of MPS II vary greatly, so the diagnosis cannot be made by physical exam alone. Diagnosis requires documentation of reduced or absent iduronate 2-sulfatase enzyme activity in blood or skin cells. A very simple determination of glycosaminoglycans in the urine may help in screening potential positive patients. Patients with MPSII disease accumulate heparin and dermatan sulfates in the urines. Molecular genetic testing for mutations in the IDS gene is available to confirm the diagnosis. It is always important to rule out a multiple sulfatase deficiency by testing other sulfatase enzymes.", "therapies": "An enzyme replacement therapy, idursulfase (Elaprase), was approved in 2006 by the U.S. Food and Drug Administration (FDA) as a treatment for MPS II. This drug is sponsored by Shire."}
{"OrphaCode": "ORPHA:581", "name_zh": "粘多糖贮积症3型", "Name": "Mucopolysaccharidosis type 3", "disease_name": "Mucopolysaccharidosis Type III", "synonyms": "MPS III", "disease-overview": "", "symptoms": "Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age 2-5 years. A mild speech delay is often one of the first presenting features. Mental and motor development peak by 3-6 years of age, after which intellectual decline usually occurs Severe behavioral disturbances, such as hyperactivity and irritability, are a very common feature of Sanfilippo syndrome, and one of the more difficult aspects of the disorder to manage. The nature of the behavioral symptoms can often lead to an initial diagnosis (misdiagnosis) of autism and/or attention deficit/hyperactivity disorder (ADHD).", "causes": "All four types of MPS III are caused by variants in different genes that contain the instructions for making enzymes that break down heparan sulfate.", "affected": "The combined estimated prevalence of Sanfilippo syndrome (types A, B, C and D) is between 1:50,000 and 1:250,000 depending on the population studied. Type A is the most common globally; however, the prevalence of subtypes can vary depending on the region, with type A being more prevalent in Northern Europe and Eastern Europe than in the Mediterranean countries. Type B is the most prevalent subtype in Southern Europe. Types C and D are much less common overall, with estimated global incidences of 1:1,500,000 and 1:1,000,000 respectively.", "related-disorders": "There are seven types of mucopolysaccharidoses, some of which have similar symptoms. (For more information, choose mucopolysaccharidosis as your search term in the Rare Disease Database.)", "diagnosis": "To diagnose MPS III, mucopolysaccharides are usually first measured in urine, followed by measurement of enzyme activity in blood or a small skin sample. Increased heparan sulfate in urine, and a decrease in the activity of any one of the four enzymes (shown in the table above) is usually consistent with a diagnosis of MPS III and will identify the MPS III type (A, B, C or D). It is important to know the MPS III type as many of the treatments being developed are only for specific types.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:584", "name_zh": "粘多糖贮积症7型", "Name": "Mucopolysaccharidosis type 7", "disease_name": "Mucopolysaccharidosis Type VII", "synonyms": "beta-glucuronidase deficiency", "disease-overview": "", "symptoms": "The most severe cases of MPS VII are characterized by hydrops fetalis, or when excess fluid accumulates in the body before birth. This can result in a stillborn or death shortly after birth. Neonatal jaundice or the yellowing of the skin may occur.", "causes": "MPS VII is caused by changes (mutations) in the GUSB gene that lead to deficiency of the beta-glucuronidase enzyme. A variety of different mutations in this gene may account for the wide range of symptoms and physical findings as well as the variability in the age of onset.", "affected": "MPS VII is extremely rare, affecting only about one in 250,000 births. Fewer than 100 cases have been reported in the United States. Males and females are affected in equal numbers.", "related-disorders": "There are many types of mucopolysaccharidoses that have similar symptoms. (For more information, choose mucopolysaccharidosis as your search term in the Rare Disease Database).", "diagnosis": "Urinary levels of the mucopolysaccharides (dermatan sulfate, heparan sulfate, and chondroitin sulfate) are increased in affected individuals. The diagnosis of MPS VII may be confirmed by a thorough clinical evaluation that includes a detailed patient history and specialized tests that measure the level of beta-glucuronidase activity in blood or skin cells. Molecular genetic testing for mutations in the GUSB gene is available to confirm the diagnosis. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling to measure beta-glucuronidase activity or molecular genetic testing for GUSB gene mutations.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:73263", "name_zh": "接合菌病", "Name": "Zygomycosis", "disease_name": "Mucormycosis", "synonyms": "zygomycosis", "disease-overview": "", "symptoms": "The most common presentation is a sinus infection (sinusitis) that is accompanied by nasal congestion, nasal discharge and sinus pain. A fever and headache can also occur. If the infection spreads outside the sinuses, symptoms can include tissue loss (necrosis) of the roof of the mouth (palate), disintegration of thin wall of cartilage and bone (septum) that divides the nostrils (septum), swelling of the area around the nose (perinasal area) and redness (erythema) of the skin overlying the sinus and the eye socket (orbit). Sometimes, there is bluish discoloration of the skin near the sinuses or the eye socket due to a lack of oxygen (cyanosis). Sometimes, blurry vision or double vision can develop. If unrecognized and untreated, significant tissue death (necrosis) can occur and the infection can significantly damage facial structures.", "causes": "Mucormycosis is a fungal infection caused by certain types of molds. These molds are known as mucormycetes. They are found throughout nature (ubiquitous) and can be found in the soil and decaying organic matter like decaying vegetation.", "affected": "Mucormycosis is a rare fungal infection. The exact number of people who develop this infection in the United States is not known because there is no national surveillance of this infection. One estimate based on a study in the San Francisco area placed the incidence at 1.7 people per every 1,000,000 in the general population. Incidence refers to the number of new diagnoses of a disorder in one year. According to the medical literature, the incidence of mucormycosis is increasing. Mucormycosis has been reported all over the world. This infection can potentially affect individuals of any age, including premature newborns.", "related-disorders": "Symptoms of the following disorders can be similar to those of mucormycosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of mucormycosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis of mucormycosis is challenging because the symptoms are common to many conditions including other types of infection. A diagnosis is made by identifying mold in affected tissue and sometimes can be confirmed by a test called a fungal culture. A prompt diagnosis is important so treatment can begin as early as possible.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:46486", "name_zh": "粘膜类天疱疮", "Name": "Mucous membrane pemphigoid", "disease_name": "Mucous Membrane Pemphigoid", "synonyms": "cicatricial pemphigoid", "disease-overview": "Mucous membrane pemphigoid (MMP) is a group of rare chronic autoimmune disorders characterized by blistering lesions that primarily affect the various mucous membranes of the body. The mucous membranes of the mouth and eyes are most often affected. The mucous membranes of the nose, throat, genitalia, and anus may also be affected. The symptoms of MMP vary among affected individuals depending upon the specific site(s) involved and the progression of the disease. Blistering lesions eventually heal, sometimes with scarring. Progressive scarring may potentially lead to serious complications affecting the eyes and throat. In some cases, blistering lesions also form on the skin, especially in the head and neck area. The exact cause of MMP is unknown.", "symptoms": "MMP is characterized by the development of recurring blistering skin lesions affecting the mucous membranes of the body. These lesions may result in scarring of the affected area. Specific symptoms and severity vary from person to person depending upon the specific site(s) involved. It is important to note that affected individuals, in most cases, will not have all of the symptoms listed below.", "causes": "The exact cause of mucous membrane pemphigoid is unknown. MMP is an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses (antibodies or immunoglobulins) against foreign or invading organisms (antigens) begin to attack healthy tissue for unknown reasons. The term autoantibody is used to describe antibodies that are created to attack healthy tissue. The term autoantigen (self antigen) is used to describe the normal tissues and cells of the body that are targeted by the autoantibodies.", "affected": "Mucous membrane pemphigoid is a rare group of autoimmune blistering disorders that affects females twice as often as males. The average age of onset of MMP is during the seventh decade (60 to 70 years of age). However, the disorder can occur at any age. The exact incidence of MMP is unknown. Because the disorder is difficult to identify, many researchers believe it is under-diagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of mucous membrane pemphigoid. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Bullous pemphigoid (BP) is a chronic skin disease usually affecting the elderly that is characterized by firm, large blisters that develop on normal-appearing or reddened skin usually around cuts or scars. Within weeks, blisters spread to skin of the flexor (muscles that contract or flex) areas, groin, armpit, and the abdomen. Mucous membranes seldom are affected and tend to heal quickly. The blisters have little tendency to spread, but heal quickly when they do. There is, however, severe irritation. Bullous pemphigoid is an autoimmune disorder. (For more information on this disorder, choose bullous pemphigoid as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:566943", "name_zh": "Muller-Weiss病（足舟骨坏死）", "Name": "Mueller-Weiss syndrome", "disease_name": "Mueller-Weisse Disease", "synonyms": "Brailsford disease", "disease-overview": "", "symptoms": "Patients usually present with chronic, atraumatic mid and hindfoot pain without prior trauma that worsens with weight-bearing activity. The pain may be constant or intermittent, but typically worsens over time. Patients also complain of difficulty walking, foot swelling, joint stiffness and limitation of movement, and positional foot deformities including a paradoxical varus hindfoot deformity. In later stages of disease, it is common for MWD patients to have a positive heel raise test on physical exam, indicating posterior tibial tendon dysfunction. Patients may also present with arthritis and anterior knee pain.", "causes": "The exact cause of MWD is unknown. The most popular theory is that MWD is caused by decreased blood supply to the navicular bone of the foot. Decreased blood supply has many potential underlying causes including nutritional deficiency, smoking, alcohol, corticosteroid use, rheumatologic disorders, hematologic disorders and metabolic disorders. Other theories suggest a multifactorial cause that includes chronic pressure on the navicular bone, suboptimal ossification of the navicular bone during development, congenital causes, dysplasia and primary or secondary osteonecrosis of the navicular bone. Some medical experts think that osteonecrosis of the bone begins due to undiagnosed navicular stress fractures, eventually leading to MWD. MWD does not appear to run in families and there is no evidence of a genetic cause.", "affected": "The incidence and prevalence of MWD is currently unknown. It typically affects female adults more than male adults at a ratio of approximately 6:1. MWD most typically affects adults ages 40-60 but has been reported in a patient as young as 18 years old. Younger individuals tend to have unilateral deformities, while older individuals tend to have deformities of both feet.", "related-disorders": "Kohler disease is similar to MWD in that it is also a disorder caused by decreased blood flow to the navicular bone of the foot and causes pain, limping and swelling of the foot. However, it is distinct because it occurs only in childhood, typically in children 3-7 years of age and resolves over time as the child grows. The navicular bone regains its density, size and structure, but symptoms rarely last up to two years. MWD has not been reported in children and will not resolve without intervention. (For more information on Kohler disease search for Kohler in the Rare Disease Database.)", "diagnosis": "The diagnosis of MWD involves clinical findings, X-ray (radiologic) evidence and pathologic confirmation of the disease. Clinical findings are nonspecific and must be distinguished from those experienced due to trauma, metabolic bone disease, neoplastic bone tumor, secondary osteonecrosis and a previously undiagnosed stress fracture. The appearance of MWD on physical exam may be mistaken for acquired flat feet deformity. Suspicion of MWD can be confirmed with radiographic findings that show wedging and compression of the navicular bone, a comma shaped navicular bone and joint space narrowing.", "therapies": NaN}
{"OrphaCode": "ORPHA:53271", "name_zh": "Muenke综合征", "Name": "Muenke Syndrome", "disease_name": "Muenke Syndrome", "synonyms": "FGFR3-related craniosynostosis", "disease-overview": "", "symptoms": "The signs and symptoms of Muenke syndrome vary among affected people, and a few people with Muenke syndrome do not have any of the characteristic features of the disorder. For example, some patients may not have craniosynostosis. The symptoms and signs may include:", "causes": "Muenke syndrome is caused by a specific disease causing (pathogenic) change (variant) in the fibroblast growth factor receptor-3 (FGFR3) gene. Genes are the body’s instruction manual for creating proteins that play critical roles in the body. When a pathogenic variant in a gene occurs, it causes the protein to stop working or to not work properly.  Depending on the function of the protein, it can affect different parts of the body. More than half (>50%) of the people affected with Muenke syndrome inherit a pathogenic variant from a parent. When not inherited from either parent, the genetic change in FGFR3 is new in the patient (de novo).", "affected": "Muenke syndrome occurs in approximately one in 30,000 livebirths. Muenke syndrome occurs equally in males and females and does not occur more frequently in any specific ethnic group. About one third of individuals with Muenke syndrome are the first to be diagnosed in their families and two-thirds of individuals have a family history of the diagnosis.", "related-disorders": "There are other genetic syndromes that can cause craniosynostosis, but people with these conditions have different medical problems than a person with Muenke syndrome. These syndromes include Pfeiffer syndrome, Apert syndrome, Crouzon syndrome and Saethre-Chotzen syndrome.", "diagnosis": "Doctors may suspect of Muenke syndrome in people with:", "therapies": "Management focuses on the treatment of symptoms. This is best achieved in a pediatric craniofacial clinic, which typically includes a craniofacial surgeon and neurosurgeon, clinical geneticist, eye doctor (ophthalmologist), ear, nose and throat doctor (otolaryngologist), pediatrician, radiologist, psychologist, dentist, hearing specialist (audiologist), speech therapist and social worker."}
{"OrphaCode": "ORPHA:2576", "name_zh": "Mulibrey侏儒症", "Name": "Mulibrey nanism", "disease_name": "Mulibrey Nanism", "synonyms": "muscle-liver-brain-eye nanism", "disease-overview": "Mulibrey nanism (MN) is an extremely rare genetic disorder characterized by severe progressive growth delays and abnormalities in multiple organs. Mulibrey is an acronym for MUscles, LIver, BRain, and EYes relating to the original clinical description of the disease. Nanism refers to the short stature (dwarfism) often observed in patients with this disorder. The growth delay usually begins before birth. Non-inflammatory constrictive pericarditis involving fibrotic overgrowth of the sac surrounding the heart is a common feature with a major impact on prognosis. Overgrowth of heart muscle walls (hypertrophy) may add to circulatory problems (congestive heart failure) in these patients as they get older. Short height and facial abnormalities are commonly present. Radiologic findings include slender long bones with thick cortex, narrow medullary channel and fibrous dysplasia, J-shaped sella turcica and a small thoracic cage. The liver is usually enlarged. Additionally, fibrous tissue may build up on the interior of the lungs (pulmonary fibrosis) causing difficulty breathing. Weak muscle tone (hypotonia) is another symptom. The clinical presentation is very variable.", "symptoms": "Mulibrey nanism is characterized by progressive growth failure that begins before birth. Infants often have characteristic abnormalities of the head and face including a triangularly shaped face. Yellow discoloration deep within the eyes and other ocular abnormalities may be present but vision is usually normal. Most patients have an enlarged skull (macrocephaly) and a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull. Because this is where the pituitary gland is located, individuals with MN often have underdevelopment of various endocrine glands that leads to hormone deficiencies. The voice of patients with MN is characteristically high pitched.", "causes": "Mulibrey nanism is caused by harmful changes (pathogenic variants) in the TRIM37 gene located on chromosome 17 (17q22-q23). This gene codes for a protein present in the peroxisome, the part of cell responsible for metabolism. Loss of function of the TRIM37 protein results in a defect in the proper separation of genetic material during cell division. Normal loss of TRIM37 protein activity leads to cell death to prevent mutations in the DNA from multiplying. However, if cell death does not occur, cells with these mutations have a higher likelihood of becoming cancerous. In addition, pathogenetic variants in the TRIM37 gene can impact the number and function of immune cells, leading to an increased risk of severe infections.", "affected": "Mulibrey nanism is an extremely rare disorder that affects males and females in equal numbers. Approximately 110 patients have been reported worldwide with this condition. Most of the reported cases are from Finland, but this condition has also been diagnosed in North America, South America, Central America, Spain, France and Egypt.", "related-disorders": "There are other conditions with symptoms similar to mulibrey nanism. Conditions that might be included in a differential diagnosis include Russell-Silver syndrome and Robinow syndrome.", "diagnosis": "Mulibrey nanism may be diagnosed at birth by a thorough clinical evaluation, characteristic physical findings and specialized tests. The disease can be misdiagnosed as other similar syndromes such as Silver-Russell syndrome, especially in geographic areas where mulibrey nanism is less common.", "therapies": "Constrictive pericarditis may be treated with surgery (pericardiectomy) in symptomatic patients. Constriction-restriction assessments can be useful in determining the underlying cause of congestive heart failure and when to intervene. Diuretics may be prescribed for progressive heart failure. Difficulty breathing due to infection and/or exercise associated with abnormalities of the lungs can be treated with inhaled therapies and asthma medication. Hormone replacement therapy should be offered to children with growth hormone deficiency, delayed puberty, infrequent or very light menstrual periods, hypothyroidism, hypoadrenocorticism and abnormal ovaries or testes. Females with mulibrey nanism should be monitored closely for ovarian tumors, and all patients should be monitored for Wilms’ tumor. Patients who develop cancer can be treated with chemotherapy, surgery and multi-specialty care."}
{"OrphaCode": "ORPHA:371428", "name_zh": "多中心骨质溶解-结节-关节病谱系", "Name": "Multicentric osteolysis-nodulosis-arthropathy spectrum", "disease_name": "Multicentric Osteolysis Nodulosis and Arthropathy Spectrum", "synonyms": "MONA spectrum", "disease-overview": "", "symptoms": "Individuals affected by these conditions have skeletal changes that involve thinning or weakening of the bone (multifocal osteoporosis), progressive loss of bone tissue (osteolysis) and low bone mineral density (osteopenia) which lead to degenerative changes in bones of the hands, feet, elbows, shoulders, knees, hips and spine. Loss of bone tissue and density can lead to a short stature and brittle bones that can lead to frequent bone fractures. In some individuals, spine degeneration can cause a sideways curvature of the spine (scoliosis) and forward rounding of the spine (kyphosis).", "causes": "Multicentric osteolysis nodulosis and arthropathy spectrum disorders are caused by variants in the MMP2 gene or MMP14 gene.", "affected": "The exact number of people who have these disorders is unknown. Onset is usually between ages six months and six years but can range from birth to 11 years of age.", "related-disorders": "Winchester syndrome is now considered to be part of this spectrum of diseases called multicentric osteolysis nodulosis and arthropathy spectrum. In the most recent nomenclature of skeletal dysplasias, Winchester syndrome was named MMP14-related multicentric osteolysis, nodulosis, and arthropathy. NORD maintains a separate report on Winchester syndrome because this term is still used in the medical literature. Winchester syndrome has the same characteristics as the other conditions in the multicentric osteolysis nodulosis and arthropathy spectrum and it is characterized by severe osteolysis and generalized osteoporosis; However, in the few people described in the medical literature, no subcutaneous nodules were reported. (For More information on this disorder, choose Winchester Syndrome as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of multicentric osteolysis nodulosis and arthropathy spectrum is based upon identification of characteristic clinical features, a detailed patient and family history and thorough clinical testing that can include molecular genetic testing and an evaluation of enzyme activity.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:641", "name_zh": "多灶性运动神经病", "Name": "Multifocal motor neuropathy", "disease_name": "Multifocal Motor Neuropathy", "synonyms": "MMN", "disease-overview": "Multifocal motor neuropathy is a rare disorder characterized by slowly progressive muscle weakness, primarily of the arms and legs. The disorder is considered to be immune-mediated, which means there is inflammation resulting from abnormal functioning of the immune system and the presence of specific autoantibodies that target a specific protein in the body. Other symptoms including muscles cramps and wasting (atrophy) of muscles can also occur. The term multifocal means arising from two or more spots. The term motor refers to the motor nerves, which are those that carry nerve impulses from the brain to the muscles. The exact, underlying cause of this disorder is not fully understood. The disorder is acquired at some point during a person’s life; a person is not born with the disorder. Multifocal motor neuropathy usually responds to treatment with intravenous immunoglobulin.", "symptoms": "Multifocal motor neuropathy is a progressive disorder, this means that the signs and symptoms tend to worsen slowly over time. The main symptom is progressive muscle weakness of the arms and legs. Unlike other neurological disorders affecting the arms and legs, there usually is not any sensory deficits. This means that feelings of tingling or numbness or pain are not associated with the disorder. Muscle weakness often begins in the hands, causing hand weakness and affected individuals may drop objects frequently or have difficulty performing tasks that require fine motor skills such as turning a key in a lock. Fine motor skills are those that require small movements involving the hands and wrists. Some individuals have trouble extending or bending their wrist upward (wrist drop). Reduced grip strength of the hands and reduced dexterity of the hands is seen. Sometimes, muscle weakness starts in the legs. There may be reduced mobility of the toes and foot drop may be early signs. Foot drop occurs when weakness of the muscles involving in lifting the food cause the foot to drop or drag when attempting to walk.", "causes": "The exact, underlying cause of multifocal motor neuropathy is not fully understood. The disorder is believed to be caused by or related to an abnormal response of the immune system. The immune system is the body’s natural defense system against foreign or invading organisms or substances. The immune system is a complex network of cells, tissues, organs, and proteins that work together to keep the body healthy. Conduction block affecting the motor nerves is a characteristic finding of the disorder. Motor nerves are those that carry nerve impulses from the brain to the muscles. Conduction block is when a nerve impulse does not travel all the way down the nerve and are not carried along properly to the muscles. Multiple motor nerves are damaged by this disorder, although the exact reason is not fully understood. Researchers believe that conduction block in multifocal motor neuropathy is reversible.", "affected": "Multifocal motor neuropathy affects both men and women, although men are more frequently affected than women by a ratio of about 2.7:1. Men also tend to be diagnosed at a younger age. The median age of onset is 40 years old, although the disorder has been reported individuals ranging from 20-80 years of age. In a handful of instances, the disorder has occurred in children (pediatric cases). Multifocal motor neuropathy is estimated to affect about 0.6 per 100,000 in the general population. Because rare disorders often go undiagnosed or misdiagnosed, determining their true frequency in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of multifocal motor neuropathy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of multifocal motor neuropathy is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Asymmetrical muscle weakness without sensory problems (e.g. numbness, tingling, etc.) are the main signs of multifocal motor neuropathy. Diagnostic criteria for this disorder have been proposed by several groups. One set of guidelines (Van Schaik IN, 2010) is published by the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS).", "therapies": "The treatment of multifocal motor neuropathy may require the coordinated efforts of a team of specialists. General internists, specialists in diagnosing and treating disorders of the central nervous system and brain (neurologists), specialists in diagnosing and treating disorders of the immune system (immunologists), specialists in diagnosing and treating disorders of the skeleton and muscles (orthopedists), and other healthcare professionals may need to systematically and comprehensively plan treatment. Physical therapy to strengthen muscles may be of benefit to some individuals."}
{"OrphaCode": "ORPHA:652", "name_zh": "多发性内分泌瘤病1型", "Name": "Multiple endocrine neoplasia type 1", "disease_name": "Multiple Endocrine Neoplasia Type 1", "synonyms": "MEN-1", "disease-overview": "Multiple endocrine neoplasia (MEN) type 1 is a rare genetic disorder characterized by multiple tumors arising from cells of specific neuroendocrine tissues. The endocrine system is the network of glands that secrete hormones into the bloodstream to reach their target organs along the entire body. These hormones regulate the chemical processes (metabolism) that influence the function of various organs and activities within the body. Hormones are involved in numerous vital and metabolic processes, including regulating heart rate, body temperature and blood pressure, as well as cell differentiation and growth.", "symptoms": "MEN type 1-associated symptoms depend on which glands are affected by the overgrowth of tissue (hyperplasia) or tumor formation. Although most tumors are benign (noncancerous), tissue overgrowth or tumor formation causes the affected glands to become hyperactive and produce excess hormones. Elevated hormone levels are the main cause of MEN type 1-associated signs and symptoms. Certain tumors, such as gastrinomas and carcinoid tumors can potentially become malignant, and they still represent the two main causes of MEN type 1-associated death. The clinical expression of MEN type 1 is highly variable even within members of the same family and identical twins.", "causes": "MEN type 1 is a rare genetic disorder caused by loss-of-function variants of the MEN1 gene. The MEN1 gene encodes a nuclear protein known as menin. The exact role of menin is not fully understood. The MEN1 gene is a tumor suppressor gene, a gene that when it operates normally may have several functions including inhibiting cell division, repairing and replicating DNA and instructing cells when to die (a normal process called apoptosis). When tumor suppressor genes malfunction, certain cells may continue to grow and reproduce causing tumor formation.", "affected": "MEN type 1 affects males and females in equal numbers. It affects approximately 1 in 30,000 individuals. Some researchers think that many cases of MEN type 1 go undiagnosed, making it difficult to determine its true frequency in the general population. The onset of the disorder can vary widely, and it has been identified in children as young as 5 and adults as old as 80. MEN type 1 was first recognized as a genetic disorder in 1954.", "related-disorders": "Symptoms of the following disorders can be similar to those of MEN type 1. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Affected individuals may receive a diagnosis of MEN type 1 following a thorough clinical evaluation, a detailed patient and family history and the identification of at least two of the three characteristic endocrine tumors associated with the disorder (i.e., parathyroid and pituitary tumors and islet cell tumors in the pancreas or duodenum). Individuals with only one of the associated tumors and a positive family history of the disorder may also receive a diagnosis of MEN type 1. A variety of tests to detect elevated levels of certain hormones in the blood may be necessary to aid in the early identification of tumors. For example, identification of elevated levels of PTH together with hypercalcemia can indicate the presence of a parathyroid tumor. A variety of imaging scans may be performed to aid in identifying the size and location of specific tumors.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:653", "name_zh": "多发性内分泌瘤病2型", "Name": "Multiple endocrine neoplasia type 2", "disease_name": "Multiple Endocrine Neoplasia Type 2", "synonyms": "MEN-2", "disease-overview": "Multiple endocrine neoplasia type 2 (MEN2) is a rare genetic polyglandular cancer syndrome, characterized by the presence of medullary thyroid carcinoma (MTC) and an increased risk of develop other specific tumors affecting other glands of the endocrine system.", "symptoms": "The onset, progression and specific symptoms of each case of MEN2 can vary. Some individuals may only develop mild symptoms; others may develop serious, life-threatening complications. Some individuals may develop symptoms during infancy or early childhood; others may not develop symptoms until adolescence or young adulthood. Some cases of MEN2 may not become apparent until later during adulthood. Clinical features (phenotype) are associated with a specific RET gene variant, and, therefore, MEN2A and MEN2B are associated with different RET gene variants.", "causes": "MEN2 is caused by a disease-causing (pathogenic) variant in the RET gene. The RET gene is a proto-oncogene, a gene that, when altered, plays a role in the development of cancer. The RET gene encodes a protein, the RET tyrosine kinase membrane receptor.", "affected": "MEN2 affects males and females in equal numbers. It has been estimated to affect 1 in 40,000 people in the general population for all the MEN2A subtypes, and from 1/350,000 to 1/700,000 for the extremely rare MEN2B variant. Some researchers think that many cases of MEN2 go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of these conditions in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of MEN2. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Affected individuals may receive a clinical diagnosis of MEN2 following a specific clinical evaluation for MEN2-associated tumors, a detailed patient and familial history and the identification of characteristic features.", "therapies": "The treatment of MEN2 may require the coordinated efforts of a team of specialists. Endocrinologists, surgeons, cancer specialists (oncologists) and other healthcare professionals may need to plan the treatment systematically and comprehensively. Treatment is directed toward the specific symptoms that are apparent in each individual and may include surgical removal of tumors and drugs to counteract the effects of excess hormones or replacement of hormones no longer produced by the body (i.e., following surgical removal of a gland)."}
{"OrphaCode": "ORPHA:29073", "name_zh": "多发性骨髓瘤", "Name": "Multiple myeloma", "disease_name": "Multiple Myeloma", "synonyms": "Kahler disease", "disease-overview": "Multiple myeloma is a rare form of cancer characterized by excessive production (proliferation) and improper function of certain cells (plasma cells) found in the bone marrow. Plasma cells, which are a type of white blood cell, are produced in the bone marrow and normally reside there. Excessive plasma cells may eventually mass together to form a tumor or tumors in various sites of the body, especially the bone marrow. If only a single tumor is present, the term solitary plasmacytoma is used. When multiple tumors are present or the bone marrow has greater than 10% plasma cells, the term multiple myeloma is used.", "symptoms": "The specific symptoms, age of onset, and rate of progression of multiple myeloma varies from patient to patient. Some affected individuals will not exhibit any symptoms (asymptomatic or smoldering). Multiple myeloma may progress to cause life-threatening complications. It is important to note that affected individuals will not have all the symptoms listed below.", "causes": "The exact cause of multiple myeloma is not known. Symptoms occur as a result of a process that is initiated by the abnormal multiplication of plasma cells in bone marrow. Scientists suspect there may be a variety of causes that may include environmental factors (e.g., the effects of exposure to radiation), genetic abnormalities, and/or additional factors that may play varying contributing roles. Exposure to dioxin has been associated with an increased risk of myeloma.", "affected": "Multiple myeloma is a rare cancer that is slightly more common in males than females. In 2019, over 32,000 individuals in the United States were diagnosed with this disease. It is believed that approximately 100,000 Americans currently have the disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of multiple myeloma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Waldenstrom macroglobulinemia is a lymph and blood cell disorder. Abnormally large quantities of homogeneous protein molecules are present in the blood. The disorder may run in families and occurs after the sixth decade. An enlarged spleen and liver with abnormalities of the lymph glands are the most frequent symptoms. Weakness, anemia, fatigue and excessive bleeding, especially from the nose and mouth, also occur. (For more information on this disorder, choose Waldenstrom as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:802", "name_zh": "多发性硬化", "Name": "Multiple Sclerosis", "disease_name": "Multiple Sclerosis", "synonyms": "MS", "disease-overview": "Multiple sclerosis (MS) is a chronic neuroimmunologic (both the nervous system and the immunological system are involved) disorder of the central nervous system involving the brain, spinal cord and optic nerves. By means of a mechanism not clearly understood, the protective fatty, insulating substance called myelin sheath that covers the nerve is destroyed. The inflammatory attacks that produce the characteristic scarring (plaques or patches) of the myelin sheath occurs unpredictability, vary in intensity, and at many sites thus the name, multiple sclerosis. During the course of the disease, patients may have attacks (relapses or exacerbations), gradually worsen (progression), or stabilize. The randomness of the location of damage can result in a wide range of neurological symptoms, which may vary from person to person. Recently it has been learned that the nerve fibers themselves (axons), in addition to the myelin sheaths, are also affected early in the MS disease process. Damage to axons is irreversible thus clinicians recommend early treatment with one of the disease-modifying agents (see below).", "symptoms": "The symptoms of multiple sclerosis may vary greatly. Some people may have visual impairment (including central visual fields), double vision (diplopia), or involuntary rhythmic movements of the eyes (nystagmus). People with multiple sclerosis may also experience impairment of speech, numbness or tingling sensation in the limbs and difficulty walking. Dysfunction of the bladder and bowel may also be present along with sexual dysfunction. Multiple sclerosis is rarely fatal; the average life expectancy is 93 percent of that of the general population. In some cases however, changes in mobility make it necessary to use a cane, crutches, or other mobility devises. In a limited number of patients, the disease may result in life-threatening complications.", "causes": "The exact cause of multiple sclerosis is not known. Nevertheless, most clinical investigators agree that MS may be the result of an abnormal immunopathologically likely autoimmune in a genetically susceptible person in response to one or more environmental factors.", "affected": "The number of people with MS has been estimated to be between 300,000 and 500,000 in the US and 2.5 million people worldwide. However, this may be an underestimate because these figures are based on data collected in the 1970’s, prior to the use of MRI for diagnosis. Twice as many females as males are affected. The disorder may appear at any age, although the diagnosis is most often made between 20 and 50 years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of multiple sclerosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Amyotrophic lateral sclerosis (ALS) is a disease of the motor neurons that send signals to the skeletal muscles. It generally affects both the upper and the lower muscle groups and results in the progressive weakness and wasting away of the muscles involved. There are several varieties of ALS. The early symptoms may include slight muscular weakness, clumsy hand movements and difficulty performing fine motor tasks. Weakness in the legs may result in clumsiness and tripping, and slurring of speech, difficulty swallowing and shortness of breath may also be present. Other symptoms may include muscle stiffness and coughing. Sensory and autonomic problems are not part of ALS among several distinguishing features differing from MS (For more information on this disorder, choose amyotrophic lateral sclerosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:585", "name_zh": "多种硫酸脂酶缺乏症", "Name": "Multiple sulfatase deficiency", "disease_name": "Multiple Sulfatase Deficiency", "synonyms": "MSD", "disease-overview": "Multiple sulfatase deficiency (MSD) is an ultra-rare genetic disorder in which all of the known sulfatase enzymes are unable to be fully activated by formylglycine-generating enzyme (FGE), which is encoded by the SUMF1 gene. Because of the multisystemic importance of sulfatases, this disorder affects many parts of the body. While neurologic impairment is universal, major systemic symptoms can be variable and include bone abnormalities, coarsened facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Because of deficient activation of steroid sulfatase, the skin of children affected by MSD can be usually dry and scaly (ichthyosis).", "symptoms": "Classically, the subtypes of MSD are defined by the age at symptom onset: neonatal, severe late infantile, mild infantile, and juvenile. The clinical relevance of these divisions is unknown, as subtle symptoms are present in infancy across all types. Because MSD is the result of a variable degree of deficiency across all human sulfatases, the systemic symptoms can be variable.", "causes": "Multiple sulfatase deficiency is an autosomal recessive disorder caused by a change (mutation) in the SUMF1 gene. This gene allows cells to make an enzyme called FGE (formylglycine-generating enzyme) that activates all sulfatases within the cell. Without activation, sulfatases are not able to do their jobs in the cell. The missing sulfatases are directly responsible for the changes in the body seen in MSD. More severe forms of the disease are associated with SUMF1 mutations that lead to the production of an unstable form of FGE, while the more mild forms are due to mutations that lead to reduced but correctly functioning FGE.", "affected": "Multiple sulfatase deficiency is an ultra-rare disorder with a wide spectrum of disease.   To date, over one hundred patients have been reported in the literature with 50 of those patients confirmed alive by patient organization registries. This number may be underestimated due under diagnosis or lack of reporting.  Males and females are equally affected and no ethnic predisposition has been identified.", "related-disorders": "Symptoms of the following disorders can resemble those of multiple sulfatase deficiency. In particular, disorders caused by single sulfatase deficiencies, such as arylsulfatase A in metachromatic leukodystrophy, share many similarities. Comparisons are useful for differential diagnosis:", "diagnosis": "Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system. Three types of MLD ultimately affect both intellectual and motor function. Symptoms vary by type but can include difficulty talking, seizures, difficulty walking, personality changes, and behavior and personality changes. MLD is caused by mutations in the ASA gene.  All forms of MLD are progressive. (For more information on this condition, choose metachromatic leukodystrophy as your search term in the Rare Disease Database.)", "therapies": "There are currently no targeted therapies for MSD, and treatment is supportive and based upon symptoms. Care for patients with MSD requires a multidisciplinary team to evaluate the many body systems that may be affected by this disease. Due to the very broad spectrum of clinical problems a comprehensive approach is recommended. Depending on the needs of the child, important members of the team may include neurology and/or metabolism, complex care pediatrics, gastroenterology, nutrition, urology, orthopedics, and physiatry."}
{"OrphaCode": "ORPHA:102", "name_zh": "多系统萎缩", "Name": "Multiple system atrophy", "disease_name": "Multiple System Atrophy", "synonyms": "MSA", "disease-overview": "", "symptoms": "The range, severity, and distribution of symptoms vary greatly among affected individuals. For example, some may initially have only mild symptoms for several years; others may experience severe symptoms early in the course of the disease. Symptoms of MSA may vary depending upon which form of MSA predominates. The disorder can cause the progressive loss of motor skills and approximately 50% of individuals are wheelchair-bound within 5-6 years of the onset of motor symptoms. Eventually, affected individuals may become confined to bed and experience life-threatening complications.", "causes": "The exact underlying cause of MSA is unknown. It appears to occur randomly for unknown reasons (sporadically). Researchers have suggested that multiple environmental or genetic factors are important, but more research is needed.", "affected": "MSA appears to affect males and females in equal numbers. The peak onset of MSA is between 55-60 years of age, with a range from 30 to over 90 years. The incidence of MSA in the United States is estimated at 0.6 cases per 100,000 people per year in the general population giving a current estimate of about 1,900 new cases per year in the USA. A prevalence study in London, UK, gave an age-adjusted figure of 4.4 living cases per 100,000 population at any one time, which would currently translate to about 14,000 living cases in the USA. There is about 1 living case of MSA in the population for every 40 cases of Parkinson’s disease, but because survival in MSA is shorter than for PD, about 1 new MSA case presents every year for about every 20 who present with PD.", "related-disorders": "Symptoms of the following disorders can be similar to those of MSA. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Parkinson’s disease (PD) is a slowly progressive neurologic movement disorder characterized by involuntary, resting tremor, muscular stiffness or lack of flexibility (rigidity), slowness of movement (bradykinesia) and difficulty controlling voluntary movements. It also commonly causes autonomic symptoms and, in advanced, older, patients, dementia. Degenerative changes occur in areas deep within the brain (substantia nigra and other pigmented regions of the brain), resulting in decreasing levels of the neurotransmitter dopamine in the brain. Dopamine is a highly specialized brain chemical that sends a signal to other nerve cells, and participates in the regulation of body movements. Parkinson’s disease usually begins in late adulthood. It is slowly progressive; however, it may not become incapacitating for many years. (For more information on this disorder, choose Parkinson’s disease as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2959", "name_zh": "早衰-身材矮小-色素痣综合征", "Name": "Progeria-short stature-pigmented nevi syndrome", "disease_name": "Mulvihill-Smith Syndrome", "synonyms": "progeriod short stature with pigmented nevi", "disease-overview": "", "symptoms": "Mulvihill-Smith syndrome is diagnosed based on a series of symptoms described in the scientific literature. There can be some variation of symptoms between affected individuals. The core symptoms include the following:", "causes": "The cause of Mulvihill-Smith syndrome is not presently known. All reported affected individuals have been isolated and independent cases. This makes it likely that the disease results from a new spontaneous mutation in a gene or gene(s) or caused by other genetic defects (chromosome abnormalities). The possibility that the disease may be inherited (autosomal recessive inheritance) has been suggested in one scientific paper. Autosomal recessive diseases occur when the affected individual inherits two abnormal copies of the gene, one from each parent. It is also possible that the disease is both autosomal recessive and spontaneous, with one mutation inherited from one parent and the other mutation arising spontaneously. No specific genes associated with Mulvihill-Smith syndrome have been identified, so this condition cannot be identified through genetic testing. Mulvihill-Smith syndrome is diagnosed by the symptoms that have been described above.", "affected": "Mulvihill-Smith syndrome is an extremely rare disorder (11 reported cases) that, in theory, affects males and females in equal numbers. Most of the reported affected individuals, however, have been males (7 males, 4 females).", "related-disorders": "Symptoms of the following disorders may be similar to those of Mulvihill-Smith syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of Mulvihill-Smith syndrome may be suspected upon the identification of characteristic described in the Signs and Symptoms section above. A diagnosis may be confirmed based upon a thorough clinical evaluation, a detailed patient history and a variety of specialized tests. For example, hearing tests may be performed to determine the range and severity of hearing impairment, blood tests may be performed to analyze levels of immune cells and a detailed physical exam would look at many physical traits such as skin conditions. The clinical diagnosis by a physician is based on whether the individual meets enough of the core criteria of Mulvihill-Smith syndrome and following the exclusion of all other diseases or disorders that share some similar symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98895", "name_zh": "贝克肌营养不良症", "Name": "Muscular Dystrophy, Becker", "disease_name": "Muscular Dystrophy, Becker", "synonyms": "Benign Juvenile Muscular Dystrophy", "disease-overview": "Becker muscular dystrophy is in the category of inherited muscle wasting diseases caused by a gene abnormality (mutation) that results in deficient or abnormal production of the dystrophin protein (dystrophinopathies). The abnormal gene is called DMD and is located on the X chromosome. Becker muscular dystrophy follows x-linked recessive inheritance so it mostly affects males, but some females are affected. Becker muscular dystrophy usually begins in the teens or early twenties and symptoms vary greatly between affected individuals. Muscle deterioration progresses slowly but usually results in the need for a wheel chair. Muscles of the heart deteriorate (cardiomyopathy) in some affected individuals, and this process can become life-threatening. Learning disabilities involving visual abilities may be present.", "symptoms": "Symptoms of Becker muscular dystrophy usually begin in the teens or late twenties. Initial symptoms may include cramping during exercise and reduced stamina during exercise. Muscle gradually deteriorates in the hips, pelvis, thighs and shoulders that can lead to walking on toes with the stomach forward. Shortening of muscle fibers can result in the inability to move certain muscles (contractures). The progression of BMD is slower and more variable than Duchenne muscular dystrophy but usually results in the need for a wheel chair. The heart muscle is also affected and can result in feeling breathless, fluid accumulation in the lungs and swelling in the feet and lower legs. Dilated cardiomyopathy is the most common cause of death in individuals with BMD, and most affected individuals die in their mid 40’s.", "causes": "Becker muscular dystrophy is caused by abnormalities (mutations) in the DMD gene that is responsible for the production of the dystrophin protein. Dystrophin is necessary for the stability and protection of muscle. The gene mutation causes the dystrophin protein to be shorter than normal and not function normally.", "affected": "Becker muscular dystrophy occurs in approximately 1 in 30,000 male births.", "related-disorders": "Symptoms of the following disorders can be similar to those of Becker muscular dystrophy (BMD). Comparisons may be useful for a differential diagnosis:", "diagnosis": "Duchenne muscular dystrophy is an x-linked recessive genetic disease that is also caused by mutations in the DMD gene. The DMD gene mutations that cause Duchenne muscular dystrophy result in little or no dystrophin protein to be made. Symptoms usually begin in early childhood and progress rapidly. The disease is initially characterized by delays in sitting and standing and difficulty climbing. Children often need a wheel chair by the age of twelve. A disease affecting the heart muscle (cardiomyopathy) occurs in the teenage years and can be life threatening. (For more information about this condition, choose Duchenne as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:589", "name_zh": "重症肌无力", "Name": "Myasthenia gravis", "disease_name": "Myasthenia Gravis", "synonyms": "MG", "disease-overview": "Myasthenia gravis is a neuromuscular disorder primarily characterized by muscle weakness and muscle fatigue. Although the disorder usually becomes apparent during adulthood, symptom onset may occur at any age. The condition may be restricted to certain muscle groups, particularly those of the eyes (ocular myasthenia), or may become more generalized (generalized myasthenia gravis), involving multiple muscle groups. Most individuals with myasthenia gravis develop weakness and drooping of the eyelids (ptosis); weakness of eye muscles, resulting in double vision (diplopia); and excessive muscle fatigue following activity. Additional features commonly include weakness of facial muscles; impaired speech (dysarthria); difficulties chewing and swallowing (dysphagia); and weakness of the upper arms and legs (proximal limb weakness). In addition, in about 10 percent of patients, affected individuals may develop potentially life-threatening complications due to severe involvement of muscles used during breathing (myasthenic crisis). Myasthenia gravis results from an abnormal immune reaction in which the body’s natural immune defenses (i.e., antibodies) inappropriately attack and gradually injure certain receptors in muscles that receive nerve impulses (antibody-mediated autoimmune response).", "symptoms": "Symptoms may be variable, with disease involvement potentially localized to certain muscles or affecting multiple muscles. In some affected individuals, the disease process may be limited to certain eye muscles, which is often described as ocular myasthenia. In those with more generalized disease or generalized myasthenia gravis, affected muscles may include those of the eyes, face, jaw, and throat region; arm and leg (limb) muscles; and muscles involved in breathing (respiratory muscles).", "causes": "Most individuals with myasthenia gravis (MG) have no family history of MG and the disorder appears to occur spontaneously (sporadically) for unknown reasons. However, upwards of 5 percent of patients may have family members with MG or other autoimmune disorders. Individuals with MG have an increased frequency of certain genetically determined human leukocyte antigens (HLAs), suggesting that genetic predisposition may play some role. (HLAs are proteins that play an important role in the body’s immune system; they influence the outcome of transplantation and appear to affect an individual’s predisposition to certain diseases.) Other autoimmune diseases also appear to occur with increased frequency in individuals with MG, including thyroid disorders and systemic lupus erythematosus. These observations suggest that there is some genetic predisposition to MG which requires a trigger from the environment to cause the disease.", "affected": "Autoimmune myasthenia gravis has a prevalence of approximately 14-40 per 100,000 individuals in the United States. Reports indicate that the frequency of the disorder has appeared to increase over the last several decades. This may be because of better identification of patients, but also autoimmune disorders in general are increasing in frequency across the world.", "related-disorders": "Symptoms of the following disorders may be similar to those of myasthenia gravis (MG). Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lambert-Eaton (myasthenic) syndrome is also known as Eaton-Lambert syndrome. It is a rare autoimmune disorder of adulthood in which antibodies abnormally attack certain proteins on the surface of nerve endings that regulate calcium levels (calcium channels), resulting in inadequate release of acetylcholine. It is characterized by muscle weakness and fatigue, particularly of the hip and thigh muscles. Additional symptoms and findings may include absence of certain reduced reflex responses and dysfunction of particular involuntary functions (autonomic symptoms), such as dryness of the mouth, constipation, impotence, and/or other abnormalities. Cancer, particularly certain types of lung cancer, is frequently associated with the disease. (For more information, choose Lambert-Eaton as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2584", "name_zh": "经典型蕈样真菌病", "Name": "Mycosis Fungoides", "disease_name": "Mycosis Fungoides", "synonyms": "Granuloma Fungoides", "disease-overview": "Mycosis fungoides is a rare form of T-cell lymphoma of the skin (cutaneous); the disease is typically slowly progressive and chronic. In individuals with mycosis fungoides, the skin becomes infiltrated with plaques and nodules that are composed of lymphocytes. In advanced cases, ulcerated tumors and infiltration of lymph nodes by diseased cells may occur. The disorder may spread to other parts of the body including the gastrointestinal system, liver, spleen, or brain.", "symptoms": "STAGE I: The first sign of mycosis fungoides is usually generalized itching (pruritus), and pain in the affected area of the skin. Sleeplessness (insomnia) may also occur. Red (erythematous) patches scattered over the skin of the trunk and the extremities appear. These lesions may resemble other skin disorders such as psoriasis, parapsoriasis, lichen planus, or eczema.", "causes": "The exact cause of mycosis fungoides is not known. Current theories include antigen persistence, retroviruses (e.g., HTLV-1, etc.), and exposure to cancer-causing (carcinogenic) substances.", "affected": "Mycosis fungoides rarely occurs before age 40 years. It affects males twice as often as females.", "related-disorders": "Symptoms of the following skin disorders may resemble those of mycosis fungoides. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of mycosis fungoides may be made by a thorough clinical evaluation and a variety of specialized techniques and tests including DNA cytophotometry, nuclear contour analysis, and analysis of T-cell receptor gene rearrangement.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:52688", "name_zh": "骨髓增生异常综合征", "Name": "Myelodysplastic Syndromes", "disease_name": "Myelodysplastic Syndromes", "synonyms": "MDS", "disease-overview": "", "symptoms": "The symptoms of MDS occur because the bone marrow fails to produce enough functioning blood cells. The specific symptoms and progression of the disorder vary greatly from person to person. Some individuals may have mild symptoms that remain stable for many years; others may rapidly develop serious symptoms that can progress to life-threatening complications.", "causes": "When the cause of MDS is unknown it is called idiopathic MDS. A so-called secondary MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases. It is possible that some chemicals (pesticides and benzene), cigarette smoking, and possibly viral infections can predispose to MDS. However, these links are circumstantial and in the majority of individuals developing MDS no obvious connection with environmental hazards can be found. MDS sometimes runs in families, suggesting a genetic link with the disease, particularly in younger patients with this disease.", "affected": "Myelodysplastic syndromes affect males slightly more often than females. The disorder occurs in any age group, but is far more common in older adults, occurring most often in individuals over 60 years of age. According to one estimate, 22 to 45 per 100,000 people over the age of 70 years have MDS. Approximately 20,000 new patients are diagnosed each year in the United States. The number of new cases diagnosed each year is increasing, possibly due to better recognition of the disorder combined with an increasing proportion of elderly adults in the general population. Determining the exact frequency of MDS in the general population is difficult because of lack of reporting of patients with mild cytopenias.", "related-disorders": "MDS shares features with other blood disorders which need to be considered before reaching the correct diagnosis.", "diagnosis": "A diagnosis of myelodysplastic syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including complete blood counts, examination of the blood smear and bone marrow aspiration and biopsy. A complete blood count measures the number of red and white blood cells and platelets in the body. The blood smear and the small sample of bone marrow removed via a needle (the aspirate) is examined under a microscope to evaluate for the characteristic features of MDS. Chromosome analysis is helpful for diagnostic and prognostic purposes as is a blood test determining the presence of certain mutations (changes) within the blood cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2588", "name_zh": "Myhre综合征", "Name": "Myhre syndrome", "disease_name": "Myhre Syndrome", "synonyms": "laryngotracheal stenosis, arthropathy, prognathism, and short stature", "disease-overview": "", "symptoms": "Although researchers have been able to describe a recognizable syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified patients and the lack of large clinical studies prevent physicians from developing a complete picture of associated symptoms and prognosis. No other genes have been identified to cause Myhre syndrome. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that every patient is unique. Parents of affected children and adults with Myhre syndrome should talk to their primary care physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Myhre syndrome is caused by a gain-of-function mutation (pathogenic variant) in the SMAD4 gene. It is the only gene known to cause the disorder. Genes provide instructions for creating (encoding) proteins that play a critical role in many functions of the body. When a mutation occurs, the protein product of the gene may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Myhre syndrome is an extremely rare inherited disorder that, in theory, affects males and females in equal numbers. Fewer than 100 patients have been reported in the medical literature, but cases are being steadily published. Because some cases of Myhre syndrome most likely go undiagnosed or misdiagnosed, determining the true frequency of the disorder in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of Myhre syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are other congenital disorders that may be characterized by intellectual disability and growth deficiency occurring in association with facial abnormalities, skeletal malformations, and/or other physical abnormalities similar to those associated with Myhre syndrome. Such disorders include, but are not limited to, GOMBO syndrome, acromicric dysplasia, geleophysic dysplasia, Weil-Marchesani syndrome, and acromesomelic dysplasia. However, none of these syndromes is identical to Myhre syndrome. The thickened skin associated with Myhre syndrome may resemble the stiffened skin seen in stiff skin syndrome. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1942", "name_zh": "肌阵挛性无定向癫痫", "Name": "Myoclonic-astatic epilepsy", "disease_name": "Myoclonic Atonic Epilepsy", "synonyms": "Doose syndrome", "disease-overview": "", "symptoms": "MAE is a seizure disorder that begins in early childhood. Nearly all patients have their first seizures before the age of five, with 24% beginning before the child’s first birthday. Most children with MAE have normal development up to the time of diagnosis, though 20% have minor delays that often present with speech difficulties. For most patients, the first seizure is a generalized tonic-clonic seizure. Tonic refers to a stiffening stage, wherein the body becomes rigid. This can cause falls and loss of bladder control due to the inability to control muscle function. The tonic period usually lasts for less than thirty seconds before transitioning into the clonic phase, which involves the limb jerks and rapid movements that are characteristically associated with epileptic episodes. Throughout the duration of the episode, the child is completely unconscious and unaware of what is occurring, and may not regain consciousness until a few minutes afterwards.", "causes": "The exact cause of MAE is unknown. Between 34-44% of patients have at least one family member with a history of epilepsy. Interestingly, the type of prior seizure disorder is not consistent among family members, but typically remains within the GEFS+ (genetic epilepsy with febrile seizures plus) spectrum. The GEFS+ family of seizures are characterized by seizures that are typically brought on by febrile or afebrile (non-fever induced) seizures and are recurrent. These cases must be seen among several family members throughout different generations in order to be classified as GEFS+ cases. The most frequent seizure types among those with GEFS+ include myoclonic, atonic, and absence seizures.", "affected": "Myoclonic atonic epilepsy is a rare disorder that accounts for 1-2% of all epilepsy diagnoses. This translates to affecting less than 1 in every 100,000 children born each year. When the disorder presents before the first year of life, males are affected far more than females, in about a 3:1 ratio. However, when diagnosed after the first year of life, the gender ratio becomes nearly equal. One in four children experiences their onset seizure before their first birthday, and 94% of cases occur before the age of five. In one third of cases, the child has family members with a history of some form of epilepsy, typically within the GEFS+ (genetic epilepsies with febrile seizures plus) spectrum. Around 2% of children have family histories of myoclonic and atonic seizures specifically. While this may seem like a small percentage, it is 200 times greater than the correlation found among the general population.", "related-disorders": "Due to the significant overlaps in seizure types, ages of onset and symptoms experienced, there are many disorders that share similarities with myoclonic atonic epilepsy. The specific presence of myoclonic-atonic seizures are what set MAE apart from the other generalized seizure types. However, there are several other disorders that are considered to be differential diagnoses.", "diagnosis": "While there isn’t a genetic diagnosis for myoclonic atonic epilepsy, a combination of clinical symptoms and EEG findings are used for diagnosis. While patients with MAE may experience a variety of seizure types, the presence of myoclonic-atonic seizures is absolutely indicative of MAE. Additional findings typically include:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:593", "name_zh": "肌原纤维肌病", "Name": "Myofibrillar myopathy", "disease_name": "Myofibrillar Myopathy", "synonyms": "", "disease-overview": "Myofibrillar myopathies are a group of rare genetic neuromuscular disorders that may be diagnosed in childhood but most often appear after 40 years of age. These conditions are highly variable but are characterized by a slowly progressive muscle weakness that can involve skeletal muscle (muscles that function to move bones) and smooth muscle (muscle often associated with organs, such as the digestive tract). Skeletal muscle weakness can be present in the limb muscles close to the center of the body (proximal) as well as the muscle farther from the center of the body (distal). A weakening of the heart muscle (cardiomyopathy) is common and may result in an irregular heartbeat (arrhythmia or conduction defects) or congestive heart failure.", "symptoms": "Specific signs and symptoms of myofibrillar myopathies vary by subtype, which are defined by the causative gene (see below). However, all involve progressive muscle weakness and characteristic abnormalities in muscle cells (myofibrillar disorganization and protein accumulation). Some people with myofibrillar myopathy have muscle stiffness, aching, cramps or decreased muscle mass (atrophy). Cardiomyopathy is sometimes the first symptom and may present as arrhythmia, conduction defects or congestive heart failure.", "causes": "Myofibrillar myopathies may be caused by disease-causing mutations in a single gene or by many changes in multiple genes in combination with environmental factors. Genes function as the instructions for the creation of proteins, and the disease-causing mutations result in excess amounts of a particular protein in muscle. The genes responsible for myofibrillar myopathies are identified in approximately 20% of affected individuals. These disorders have been categorized by the gene involved.", "affected": "The frequency of myofibrillar myopathies is not well understood. It is likely that these conditions are unrecognized and underdiagnosed.", "related-disorders": "Signs and symptoms of the following muscle disorders may be similar to those of myofibrillar myopathies. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multi-system disorder that affects both smooth and skeletal muscles and may affect the central nervous system, heart, eyes and/or endocrine systems. Classic DM1 is characterized by muscle weakness and atrophy, cataracts, myotonia (impaired muscle relaxation) and abnormalities in the heart’s conduction of electrical impulses. Myotonic dystrophy type 2 (DM2), is an autosomal dominant disorder with symptoms that are similar to DM1, but tend to be milder and more variable than DM1. (For more information on this disorder, choose myotonic dystrophy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:431272", "name_zh": "X连锁遗传性肩胛腓骨部肌营养不良", "Name": "Myopathy, Scapuloperoneal", "disease_name": "Myopathy, Scapuloperoneal", "synonyms": "Scapuloperoneal Muscular Dystrophy", "disease-overview": "Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder muscles become weakened. The rate of progression of the disorder varies from case to case. This condition can also occur in combination with other disorders. Scapuloperoneal myopathy is inherited as an autosomal dominant trait.", "symptoms": "Symptoms of scapuloperoneal myopathy primarily include muscle weakness and wasting usually limited to muscles in the shoulder blade and girdle area and the legs below the knees. This disorder can begin in childhood or adulthood. The progression rate and severity may vary greatly, with some cases progressing more quickly than others. In most cases, the progression is slow.", "causes": "Scapuloperoneal myopathy is inherited as an autosomal dominant trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.", "affected": "Scapuloperoneal myopathy affects males and females in equal numbers. Symptoms may begin in childhood or during adulthood. Scapuloperoneal myopathy is a rare disorder; the exact prevalence of this disorder in the general population is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of scapuloperoneal myopathy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Scapuloperoneal amyotrophy (also known as Kaeser syndrome or scapuloperoneal syndrome, neurogenic type) is characterized by muscle weakness and wasting (atrophy) below the knees accompanied by foot abnormalities and an unusual walk. Eventually, the shoulder muscles may also become involved. Nerve impulses may become measurably slowed, which does not occur in scapuloperoneal myopathy. Pain, unusual sensations in the legs, heart problems, and muscle contractures may also occur. Scapuloperoneal amyotrophy is inherited as an autosomal dominant trait.", "therapies": "There is no specific treatment for individuals with scapuloperoneal myopathy. Treatment may include specified amounts of therapeutic exercise and physical therapy alternating with periods of rest."}
{"OrphaCode": "ORPHA:614", "name_zh": "先天性肌强直", "Name": "Thomsen and Becker disease", "disease_name": "Myotonia Congenita", "synonyms": "", "disease-overview": "Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability). As a result, affected individuals have difficulty relaxing certain muscles after contracting them (myotonia), muscle stiffness (rigidity), and associated symptoms. Such symptoms tend to occur when attempting to move certain muscles after rest. In many cases, individuals with myotonia congenita also have abnormal enlargement of the muscles (hypertrophy), resulting in a herculean or body-builder like appearance.", "symptoms": "Myotonia congenita is a disorder of voluntary (skeletal) muscle characterized by an exaggerated response to stimulation of certain muscle fibers (hyperexcitability). As a result, there is painless spasm (tonic spasm) of affected muscle after forceful voluntary contraction, abnormal muscle stiffness, and difficulty relaxing muscle (myotonia). Such symptoms tend to occur when affected individuals attempt to move certain muscles following a period of inactivity or when affected muscles are mechanically stimulated. Characteristic symptoms may include difficulties relaxing hand grip; completely opening the eyes after forcibly closing them (e.g., following crying or sneezing); arising from a chair; starting to walk or run; climbing stairs; and/or arising from bed at night. As noted above, the myotonia is characteristically most pronounced following a period of rest. In addition, it typically improves by gradually increasing the force or intensity of movements through warming up. Most individuals with myotonia congenita also develop abnormal enlargement of voluntary muscles (hypertrophy), resulting in an athletic appearance.", "causes": "Thomsen type myotonia congenita is transmitted as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.", "affected": "Thomsen and Becker types myotonia congenita are thought to affect males and females in relatively equal numbers. Reported cases have included multiple affected members in multigenerational families (kindreds) as well as apparently sporadic cases. The reported incidence of these disorders is between .3 and .6 per 100,000 people in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of myotonia congenita. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Paramyotonia congenita is a rare genetic nonprogressive disorder that usually becomes apparent during infancy. The disorder is often characterized by myotonia triggered or aggravated by exposure to cold and alleviated by warm temperatures; in addition, the myotonia is sometimes described as paradoxic, since it tends to become more severe rather than to improve with exercise. Some with the disorder may also be affected by episodes of weakness or partial paralysis (paresis) that do not necessarily coincide with exposure to cold temperatures or myotonia. In addition, in some cases, periods of weakness may be induced by the administration of potassium. The disorder is not associated with muscle wasting or hypertrophy. Paramyotonia congenita is a sodium channel disease (sodium channelopathy). It results from mutations of a gene (called SCN4A) that has also been linked to hyperkalemic periodic paralysis (see below). The disease gene has been mapped to the long arm (q) of chromosome 17. Paramyotonia congenita is transmitted as an autosomal dominant trait. (For more information on this disorder, choose paramyotonia congenita as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:206647", "name_zh": "强直性营养不良", "Name": "Myotonic Dystrophy", "disease_name": "Myotonic Dystrophy", "synonyms": "Curschmann-Batten-Steinert syndrome", "disease-overview": "", "symptoms": "The signs and symptoms of DM1 or DM2 can vary greatly among affected individuals. This is true even among members of the same family. Many people will not develop all of the symptoms discussed below. Every person is unique and how these disorders affect a person can be very different. In addition, DM1 and DM2 have many symptoms that overlap, but there are also symptoms unique to each disorder, clearly marking them distinct disorders.", "causes": "DM1 is caused by a change or alteration in the myotonic dystrophy protein kinase (DMPK) gene. DM2 is caused by a change or alteration in the nucleic acid-binding protein (CNBP) gene; this gene is also called the ZNF9 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "DM1 is estimated to affect about 1 in 8,000-20,000 people in the general population. However, the prevalence of DM1 and DM2 vary greatly among different countries and different ethnic groups. The incidence of DM2 is higher in Germany and Finland. Because some people with DM may go unrecognized or undiagnosed, determining the true frequency of these disorders in the general population is difficult. Researchers have determined that DM is the most common form of adult onset muscular dystrophy.", "related-disorders": "Symptoms of the following disorders can be similar to those of myotonic dystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of myotonic dystrophy may be suspected based upon a thorough clinical evaluation, a detailed patient and family history, and identification of characteristic physical findings. A family history of muscle weakness and myotonia is a strong indicator of a diagnosis for DM.", "therapies": "There is no cure yet for myotonic dystrophy, but researchers are studying ways to help people with these disorders. Current treatment is directed toward the specific symptoms that are apparent in each individual."}
{"OrphaCode": "ORPHA:927", "name_zh": "N-乙酰谷氨酸合成酶缺乏所致高氨血症", "Name": "Hyperammonemia due to N-acetylglutamate synthase deficiency", "disease_name": "N-Acetylglutamate Synthetase Deficiency", "synonyms": "hyperammonemia due to N-acetylglutamate synthetase deficiency", "disease-overview": "", "symptoms": "NAGS deficiency may be associated with complete or partial absence of the NAGS enzyme. Complete lack of the NAGS enzyme results in the severe form of the disorder, in which symptoms occur shortly after birth (neonatal period). Partial lack of the NAGS enzyme results in a milder form of the disorder that occurs later during infancy or childhood or even adulthood in some cases. Specific symptoms can vary from one person to another.", "causes": "NAGS deficiency is an autosomal recessive genetic disorder caused by mutations of the NAGS gene. Mutations in the NAGS gene results in deficiency of the enzyme N-acetylglutamate synthetase. The symptoms of NAGS deficiency develop due to the lack of this enzyme which is needed to break down nitrogen in the body. Failure to properly break down nitrogen leads to the abnormal accumulation of nitrogen, in the form of ammonia, in the blood (hyperammonemia). Specifically, the NAGS enzyme is an activator of another enzyme of the urea cycle known as carbamyl phosphate synthetase (CPS).", "affected": "NAGS deficiency is a rare disorder that affects males and females in equal numbers. In most cases, onset of symptoms occurs at, or shortly following, birth. The estimated frequency of urea cycle disorders collectively is one in 30,000 births. However, because urea cycle disorders like NAGS deficiency often go unrecognized, these disorders are under-diagnosed, making it difficult to determine the true frequency of urea cycle disorders in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of NAGS deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures, and/or coma. The liver may be abnormally enlarged (hepatomegaly) in some cases. In severe cases, life-threatening complications may result. In addition to NAGS deficiency, the other urea cycle disorders are: argininosuccinate synthetase deficiency (citrullinemia); argininosuccinase acid lyase deficiency; ornithine transcarbamylase (OTC) deficiency; arginase deficiency and carbamylphosphate synthetase (CPS) deficiency. (For more information on these disorders, choose the specific disorder name as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:245", "name_zh": "纳赫尔综合征", "Name": "Nager syndrome", "disease_name": "Nager Syndrome", "synonyms": "acrofacial dysostosis, Nager Type", "disease-overview": "", "symptoms": "The specific symptoms that occur may vary from one person to another, even among members of the same family. Affected individuals may develop a variety of craniofacial and limb abnormalities which usually are noticeable at birth (congenital).", "causes": "Most cases of Nager syndrome are cause by mutations in the SF3B4 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Nager syndrome affects males and females in equal numbers. The exact incidence and prevalence in the general population is unknown. Many cases go misdiagnosed or undiagnosed, making it difficult to determine the true frequency in the general population. More than 100 cases have been reported in the medical literature. Although rare, Nager syndrome is the most common form of acrofacial dysostosis.", "related-disorders": "Symptoms of the following disorders can be similar to those of Nager syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Nager syndrome is based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic physical findings. Most of the associated abnormalities are present at birth (congenital).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2614", "name_zh": "指甲-髌骨综合征", "Name": "Nail Patella Syndrome", "disease_name": "Nail Patella Syndrome", "synonyms": "Fong disease*", "disease-overview": "", "symptoms": "Nail changes are the most constant feature of NPS (98%). In most individuals with NPS, improper development (dysplasia) of the nails is apparent at birth or early infancy. While the thumbnails are almost always affected, the other fingernails may be more mildly affected or not at all. Typically the severity of the nail dysplasia decreases from the thumb toward the 5th digit. The nails may be abnormally small and narrow (i.e., one half to one third of normal size), split, abnormally thickened, depressed, and/or discolored. In addition, in most people, the crescent-shaped pale area at the base of the nail (lunula) is malformed and/or triangular. Improper development (dysplasia) of the toenails is usually less common than the fingernails; if the toenails are involved, it is often the little toenail that is affected.", "causes": "NPS is an autosomal dominant genetic condition. Human traits, including the classic genetic diseases, are the product of the interaction of two copies of every gene. One copy is received from the father and one from the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected individual to each offspring is 50% for each pregnancy. The risk is the same for males and females. Approximately 90% of people with NPS have an affected parent and, therefore, 10% develop the condition as the result of a new mutation.", "affected": "NPS affects males and females in equal numbers and is thought to affect approximately one in 50,000 people. The true prevalence may be higher since mildly affected people may be undiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of Nail-Patella syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Small patella syndrome is also known as ischiopatellar dysplasia or Scott-Taor syndrome. It is also a dominant condition and is caused by mutations in TBX4. It is characterized by absent or small patella, abnormal ossification (not fused) of the ischiopubic junction and a characteristic axe-cut notch below the acetabulum which can be seen by radiographs. Patients with small patella syndrome do not have abnormalities of their nails, elbows, eyes or kidneys.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:627", "name_zh": "Nance-Horan综合征", "Name": "Nance-Horan Syndrome", "disease_name": "Nance-Horan Syndrome", "synonyms": "cataract-dental syndrome", "disease-overview": "Nance-Horan syndrome is a rare genetic disorder that may be evident at birth (congenital). It is primarily characterized by abnormalities of the teeth and clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. Additional eye (ocular) abnormalities are also often present, such as unusual smallness of the front, clear portion of the eye through which light passes (microcornea) and involuntary, rapid, rhythmic eye movements (nystagmus). In some affected individuals, the disorder may also be associated with additional physical abnormalities and/or intellectual impairment. The range and severity of symptoms may vary greatly from one person to another, including among affected members of the same family.", "symptoms": "In affected males, the primary physical characteristic associated with Nance-Horan syndrome is the presence of dense clouding (opacities) of the lens of both eyes at birth (congenital bilateral nuclear cataracts).The lens of an eye is the small transparent flattened and elongated ball located behind the iris through which light passes. The light focuses on the retina, the thin nerve-rich membrane that lining the back of the eye. The retina converts the light into nerve impulses and relays the information along the optic nerve to the brain. Cataracts affect both eyes (bilateral) and usually result in blurred vision and severely decreased clearness or clarity of vision (visual acuity). Vision loss can potentially be profound.", "causes": "Nance-Horan syndrome is caused by mutations of the NHS gene, which is located on the X chromosome. The function of this gene is not fully understood. Nance-Horan syndrome is inherited as an X-linked trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "As discussed above, Nance-Horan syndrome is usually fully expressed in males only, although females who carry a single copy of the disease gene (heterozygotes) may develop certain features. The disorder is present at birth (congenital). Nance-Horan syndrome was described in 1974 by two research teams independent of each other. Fewer than 50 families (kindreds) have been described in the medical literature. The exact incidence of the disorder is unknown. Researchers believe that affected individuals may go unrecognized or misdiagnosed, making it difficult to determine the true frequency of Nance-Horan syndrome in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of Nance-Horan syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are several other rare inherited disorders in which clouding of the lens of the eyes at or shortly after birth (congenital or postnatal cataracts) occurs in association with other abnormalities of the eye. In some cases, the front (anterior), clear portion of the eye through which light passes (cornea) may be unusually small and/or the entire eye may be smaller than normal (microphthalmia). In addition, affected individuals may exhibit rapid, involuntary movements of the eyes (nystagmus); nearsightedness (myopia); misaligned eyes (strabismus); and/or other abnormalities of the eyes. Visual impairment may range from slight to severe, depending upon the extent of cataracts and/or any additional eye abnormalities that are present. These rare cataract disorders are typically isolated and/or may be inherited as autosomal dominant, autosomal recessive, and/or X-linked genetic traits, depending upon the disorder in question. Such disorders include isolated microphthalmia with cataract; cataract-microcornea syndrome; X-linked congenital cataract (total congenital cataract with posterior sutural opacities in heterozygotes; and X-linked congenital cataract with microcornea. The latter two disorders are caused by mutations in the same gene that causes Nance-Horan syndrome (allelic disorders). Some researchers believe that these three disorders represent different expressions of one disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:619284", "name_zh": "", "Name": "Narcolepsy", "disease_name": "Narcolepsy", "synonyms": "Gelineau's syndrome", "disease-overview": "", "symptoms": "The development and severity of symptoms associated with narcolepsy vary greatly from one person to another. The onset of symptoms initially occurs one at a time; appearance of new symptoms may be separated by years, with sleepiness generally preceding cataplexy. Narcolepsy usually begins in an adolescent whose initial symptoms are mild but worsen with age. Sometimes symptoms do not change for months, while at other times symptoms may change very quickly. Depending upon the severity of the disorder, narcolepsy can dramatically affect a person’s daily routine, disrupting all aspects of a person’s life.", "causes": "Narcolepsy with cataplexy (type 1) has been linked to low levels of a specific brain chemical called hypocretin (also known as orexin). This chemical plays an important role in regulating sleep and other functions. Hypocretin also functions as a neurotransmitter, a chemical that modifies, amplifies or transmits nerve impulses from one nerve cell (neuron) to another, enabling nerve cells to communicate. Researchers have determined that the number of neurons that produce hypocretin is significantly reduced in individuals with narcolepsy. Hypocretin-producing neurons are found in the hypothalamus, the area of the brain that regulates many functions including sleep, appetite and body temperature. In some individuals as many as 80-90 percent of hypocretin-producing neurons in the hypothalamus are lost. Individuals who have narcolepsy with cataplexy have the lowest levels of hypocretin.", "affected": "The exact number of people with narcolepsy in the United States is unknown. One estimate places the prevalence at .03 percent to .16 percent of the general population in various ethnic groups worldwide. One U.S. study placed the incidence of new cases of narcolepsy at .74 per 100,000 person-years in the general population in the United States. The disorder has also been estimated to affect 1 in 2,000 people in the general population. However, because narcolepsy often goes unrecognized or misdiagnosed, determining its true frequency in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of narcolepsy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Idiopathic hypersomnia is a rare condition characterized by episodes or extreme sleepiness that occur for no identifiable reason (idiopathic). Episodes may be chronic or constant. The disorder differs from narcolepsy in that affected individuals do not experience sudden sleep episodes or develop cataplexy. In addition, affected individuals do not feel refreshed after a nap. Some individuals with idiopathic hypersomnia sleep for long periods (e.g., more than 10 hours); others sleep for shorter periods (e.g., fewer than 10 hours). Idiopathic hypersomnia can disrupt many aspects of life. Behavioral modification and certain medications are used to treat the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:391673", "name_zh": "坏死性小肠结肠炎", "Name": "Necrotizing Enterocolitis", "disease_name": "Necrotizing Enterocolitis", "synonyms": "NEC", "disease-overview": "Necrotizing enterocolitis, abbreviated NEC, is a devastating disease that affects a newborn’s intestines. It typically occurs in premature infants, born less than 37 weeks, and is characterized by severe inflammation of a baby’s small or large intestines, which may progress to tissue death (necrosis). NEC occurs in about 1 case per 1000 live births [1]. NEC can occur in full term babies but it is much more common in very premature infants, especially very low birth weight babies — incidence ranges from 3% in infants with birth weight of 1251 to 1500 grams (2 pounds 12.13 ounces to 3 pounds 4.91 ounces) to 11% for infants born weighing less than 750 grams (1 pounds 10.46 ounces) [2]. NEC typically occurs when a newborn is several weeks old and on enteral feeds. Initially babies present with vomiting, large distended belly, bloody stools, long pauses in their breathing, and decreased activity. This can further progress to bowel necrosis and perforation. Medical treatment involves discontinuation of enteral feeds (the delivery of nutritionally complete feeds directly into the stomach), initiation of broad-spectrum antibiotics and supportive care [3]. Surgical intervention is indicated when there is evidence of bowel perforation and necrotic bowel. This serious gastrointestinal disease is associated with significant morbidity (complications associated with the disease) and mortality. Despite treatment, about 15% of babies who develop NEC die and some babies that survive suffer from numerous complications such as short bowel syndrome, poor growth, and long-term neurodevelopmental impairments [4]. The exact mechanism of this disease, while not fully understood, is believed to be multifactorial and related to a premature intestine, abnormal gut microbial colonization, and intestinal inflammation.", "symptoms": "Onset of NEC is typically during the first several weeks after birth when feeds have been started, and the age of onset inversely related to gestational age at birth. Early in the disease process, neonates can exhibit signs of feeding intolerance with vomiting, increased gastric aspirates, bile-tinged (green) gastric aspirates, or decreased bowel sounds with abdominal distention and tenderness. Gross or occult blood can be present in stools indicating mucosal injury. Many of these signs are non-specific and can occur with other disorders. Progression of NEC results in systemic signs such as lethargy, long pauses in breathing called apnea, temperature instability, and poor perfusion (pumping of fluid through an organ or tissue.) Ultimately this can lead to respiratory failure and cardiovascular collapse requiring mechanical ventilation and vasopressors. A palpable mass and erythema (abnormal redness of the skin due to capillary congestion, as in inflammation) of the abdominal wall is indicative of a more advanced disease process.", "causes": "After many years of research and clinical observation, the etiology and pathogenesis of NEC remain elusive. Some key risk factors have been consistently identified as important prerequisites for initiation of intestinal injury leading to NEC. These include prematurity, formula feeding, abnormal microbial intestinal colonization, and ischemia (when blood vessels to the intestines become narrowed or blocked, reducing blood flow.) [3;10;11].", "affected": "NEC affects 5 to 10% of premature infants born weighing less than 1500 g. Among the risk factors defined for NEC, prematurity and birth weight remain inversely related to risk for NEC. Term infants who develop NEC usually have specific risk factors such as congenital heart disease, sepsis, and low blood pressure.", "related-disorders": "Many other gastrointestinal diseases can mimic NEC, so when evaluating a patient it is important to consider and treat alternative etiologies. Sepsis can cause an ileus with abdominal distention and feeding intolerance. Premature infants, especially those on indomethacin or steroids can also present with spontaneous intestinal perforation (SIP). SIP is characterized by isolated perforation of the distal small bowel. Other causes of severe abdominal distention in neonates include bowel obstruction from Hirshsprung’s disease, small bowel atresia, meconium ileus, and malrotation with volvulus. NEC can also be mistaken for allergic enterocolitis secondary to cow’s milk protein allergy.", "diagnosis": "NEC is diagnosed clinically and radiographically. Once clinical suspicion arises, an abdominal X-ray is performed as an initial evaluation. This is repeated serially depending on acuity and clinical course to assess disease progression. Characteristic findings on NEC process on abdominal radiographs include pneumatosis intestinalis (air in the intestinal wall), abnormal persistent dilated loops, thickened bowel wall, pneumoperitoneum and portal vein gas. Pneumoperitoneum defined as abdominal free air is a surgical emergency indicating bowel perforation and usually requires intervention. Abdominal ultrasonography can also be used to evaluate for free fluid in the abdominal cavity or abscess formation. Addition laboratory studies to evaluate severity of NEC include a blood culture, coagulation studies and complete blood count with manual differential to assess for leukocytosis with bandemia, neutropenia, anemia and thrombocytopenia. Blood gases are checked serially to assess severity of acidosis and need for respiratory support or to assist with fluid management.", "therapies": "Treatment of NEC depends on the clinical staging. In cases of suspected NEC, stage I, initial treatment consists of bowel rest with discontinuation of enteral feeds, nasogastric decompression, cultures of blood, and initiation of broad-spectrum antibiotics. While infant remains NPO, nothing by mouth, intravenous parenteral nutrition is initiated. Close observation with serial examinations and radiographs is essential. Surgical consultation is obtained once NEC is confirmed, stage II or III. Supportive care includes respiratory support, inotropic (cardiac function) support, fluid resuscitation and correction of acid-base imbalance. Patients with NEC can develop disseminated intravascular coagulation (DIC) (a condition that prevents blood from clotting normally) from consumption of clotting factors and require blood product transfusions. The principal indication for surgical intervention in NEC is a perforated or necrotic intestine. Other indications include clinical deterioration and severe abdominal distention causing abdominal compartment syndrome (organ dysfunction or failure due to a severe increase in the pressure within the abdomen.) Two surgical approaches are usually done depending on clinical presentation, laparotomy with resection (removal) of necrotic bowel or primary peritoneal drainage (the procedure of inserting a Penrose drain into the space within the abdomen that contains the intestines, the stomach, and the liver)."}
{"OrphaCode": "ORPHA:199244", "name_zh": "纳尔逊综合征", "Name": "Nelson Syndrome", "disease_name": "Nelson Syndrome", "synonyms": "corticotroph tumor progression after bilateral adrenalectomy", "disease-overview": "", "symptoms": "Major symptoms and signs of Nelson syndrome include the following:", "causes": "Cushing disease is characterized by the presence of a non-cancerous tumor on the pituitary gland causing excessive production of ACTH. Nelson syndrome develops when the tumor in the pituitary gland grows after the removal of the adrenal glands (bilateral adrenalectomy). The adrenal glands normally produce cortisol. When no cortisol is produced, the hypothalamus signals the pituitary gland to produce adrenocorticotropic hormone (ACTH), which normally signals the adrenal glands to produce cortisol. Since the adrenal glands are removed, the pituitary gland continues to produce ACTH. This eventually leads to enlargement of the pituitary gland tumors or new growths.", "affected": "Nelson syndrome is diagnosed more often in females than males (8:1), especially in middle-aged females who have Cushing disease. Of the small population (about 6 percent) of Cushing disease patients who have surgery to remove both adrenal glands, 15 to 25 percent develop Nelson syndrome one to four years after the procedure. However, the disorder can arise up to 24 years after the surgery. Current data indicates 21 percent of cases of Nelson syndrome occur within 5 years of a bilateral adrenalectomy.", "related-disorders": "Noncancerous pituitary tumors (adenomas) can appear like a Nelson syndrome tumor on medical imaging.", "diagnosis": "Nelson disease may be suspected when hyperpigmentation occurs in a patient who has had a bilateral adrenalectomy.", "therapies": "The first recommended step in treating Nelson syndrome is the removal of the tumor using surgery through the nasal passages (transsphenoidal surgery). Radiation therapy might be used after surgery. For some patients, frequent medical imaging may be recommended to monitor tumors instead of offering surgery. Because patients with Nelson syndrome are not able to produce cortisol and aldosterone, hydrocortisone and mineralocorticoids are required supplements. Additional therapies can be used to treat individual symptoms and provide pain relief. Recent studies have shown mixed results with drug therapies."}
{"OrphaCode": "ORPHA:607", "name_zh": "杆状体肌病", "Name": "Nemaline myopathy", "disease_name": "Nemaline Myopathy", "synonyms": "Congenital Rod Disease", "disease-overview": "", "symptoms": "The age of onset and severity of symptoms and signs associated with nemaline myopathy vary greatly from patient to patient. Some patients with nemaline myopathy present at or shortly after birth (congenital onset). Less often, the disorder may develop during childhood or even more uncommonly in adulthood.", "causes": "Ten genes have been found to cause nemaline myopathy. Nemaline myopathy can be inherited as an autosomal recessive or dominant trait. At least 50% of cases of nemaline myopathy follow autosomal recessive inheritance, and the remainder are inherited in an autosomal dominant manner or are sporadic (new dominant cases – the first occurrence in the family).", "affected": "Nemaline myopathy is a rare disorder that affects males and females. The incidence is unknown although two studies (one in Finland and one in an American Ashkenazi Jewish population) estimated the incidence to be 1 in 50,000 live births. An incidence of 1/500 has been reported in the Amish community.", "related-disorders": "Congenital myopathy is a general term for a group of muscle disorders (myopathies) that are present at birth (congenital). These disorders are characterized by muscle weakness, hypotonia, diminished reflexes, and delays in reaching motor milestones (e.g., walking). In some disorders, muscle weakness is progressive and may result in life-threatening complications. This group of disorders includes central core disease, centronuclear myopathy, congenital fiber type disproportion, and minimulticore myopathy. Congenital myopathies are usually apparent in the newborn (neonatal) period, but may present much later in life even in adulthood. In most cases, inheritance of these disorders is either autosomal recessive or autosomal dominant. (For more information on this disorder, choose the specific disorder name as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of nemaline myopathy is suspected based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic findings. A diagnosis of nemaline myopathy is suspected based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic findings. A diagnosis may be confirmed by the presence of thread- or rod-like structures (nemaline bodies) on muscle biopsy when stained with Gomori trichrome. A biopsy is the surgical removal and microscopic evaluation of affected tissue. Increasingly the diagnosis is made or confirmed by molecular genetic testing for mutations in the genes known to cause nemaline myopathy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:247598", "name_zh": "柠檬酸缺乏所致新生儿肝内胆汁淤积症", "Name": "Neonatal Cholestasis", "disease_name": "Neonatal Cholestasis", "synonyms": "idiopathic neonatal hepatitis", "disease-overview": "Neonatal cholestasis refers to impaired flow of bile at any point from the liver cells into the intestine of a newborn.", "symptoms": "The liver is located on the right side of the abdominal cavity just under the rib cage. The liver has many different functions including filtering harmful substances (toxins, including bilirubin) out of the bloodstream, synthesizing proteins, storing essential vitamins, helping to breakdown (metabolize) food to use as energy, creating components that help the blood form clots in response to injury and producing bile, a liquid that plays an essential role in breaking down fats in the small intestine.", "causes": "Neonatal cholestasis, in general, has many different causes including several viruses including cytomegalovirus and the herpes viruses, various metabolic liver diseases or genetic disorders such as alpha-1-antitrypsin deficiency, PFIC and Alagille syndrome. Other rare disorders may also impair the function of the liver. All of these disorders should be diagnosed promptly. According to the medical literature, 15-20% of cases of neonatal cholestasis run in families (familial form) – and in recent years multiple studies have shown that genetic factors play a role in its development.", "affected": "The incidence of neonatal cholestasis in the general population is unknown. The proportion of cases classified as idiopathic has diminished as advanced diagnostic techniques and a better molecular understanding of cholestatic diseases in general have allowed physicians to diagnose many infants as being affected with specific syndromes. In the past, these infants would have been included as having idiopathic neonatal hepatitis.", "related-disorders": "Symptoms of the following disorders can be similar to those of neonatal cholestasis:", "diagnosis": "Neonatal cholestasis is a diagnosis made by excluding other conditions.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:446", "name_zh": "新生儿血色病", "Name": "Neonatal Hemochromatosis", "disease_name": "Neonatal Hemochromatosis", "synonyms": "congenital hemochromatosis", "disease-overview": "Neonatal hemochromatosis is a disorder affecting fetuses and newborns. It is characterized by liver disease associated with the accumulation of excess iron in the liver and other areas of the body. Neonatal hemochromatosis is caused by severe fetal liver disease (see below). Some severe cases result in stillbirth, while live born infants with neonatal hemochromatosis typically show signs within 48 hours of birth. Neonatal hemochromatosis often produces life-threatening complications such as liver failure. However, some infants are less severely affected than others. There is a high risk of recurrence in subsequent pregnancies of women who have had a child with neonatal hemochromatosis. Although the exact cause of the disorder is not fully understood, researchers believe most cases of neonatal hemochromatosis result from maternal fetal alloimmunity, a condition in which antibodies from the mother travel over the placenta and mistakenly attack the fetus.", "symptoms": "Neonatal hemochromatosis is characterized by liver disease that is present in the fetus or at birth (congenital). Damage to the liver occurs during pregnancy, ultimately leading to the abnormal accumulation of iron within tissue. Iron accumulation occurs while the fetus is developing in the womb and fetal loss late in pregnancy is common in families with a history of neonatal hemochromatosis. Growth delays within the womb (intrauterine growth deficiencies) are also common and many newborns are born prematurely.", "causes": "The cause of neonatal hemochromatosis is not fully understood. A woman who has a child with neonatal hemochromatosis has approximately an 80 percent chance of having another child with the disorder. This pattern of recurrence cannot be explained by normal inheritance patterns. Thus, neonatal hemochromatosis appears to be congenital and familial, but not inherited.", "affected": "Neonatal hemochromatosis is a disorder that affects males and females in equal numbers. The exact incidence of the disorder is unknown. Neonatal hemochromatosis is the most common cause of liver failure in newborns and the most common reason for a liver transplant in newborns. Neonatal hemochromatosis was first reported in the medical literature in 1957.", "related-disorders": "Symptoms of the following disorders can be similar to those of neonatal hemochromatosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of neonatal hemochromatosis should be suspected in any infants demonstrating liver disease before birth (antenatally) or shortly after birth. Blood tests may reveal elevated levels of ferritin in the blood serum, which may be indicative of liver disease and iron accumulation. Ferritin is an iron compound that is used as an indicator of the body’s iron stores.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:398124", "name_zh": "新生儿红斑狼疮", "Name": "Neonatal Lupus", "disease_name": "Neonatal Lupus", "synonyms": "neonatal lupus erythematosus", "disease-overview": "", "symptoms": "The most common symptom associated with neonatal lupus is a rash that consists of reddish, ring-like skin lesions and resembles the rash associated with systemic lupus erythematosus. The rash is temporary (transient), usually developing during the first few weeks of life and clearing up at some point during the next several months. In rare cases, skin lesions may persist into childhood. The face and scalp are most commonly affected. The raccoon eye patter is a big clue to this diagnosis when it is present.  Less often the rash can occur on the trunk, arms and legs. Some affected infants may also exhibit an abnormal sensitivity to sunlight (photosensitivity), which may initially trigger the development of the rash. Although the most common timing for the rash is about 6 weeks after birth, sometimes the rash may not develop until 2-3 months later. Of note breast feeding is not associated with an increased chance of rash.", "causes": "Neonatal lupus is a rare acquired disorder that occurs when specific antibodies are passed from a pregnant woman to the developing fetus via the placenta. In most cases, it is the anti-Ro/SSA antibody, the anti-La/SSB antibody, or both. In rare cases, the skin rash associated with neonatal lupus has been associated with another autoantibody that reacts against another type of ribonucleoprotein (the test is called anti-RNP). Other symptoms such as congenital heart block are not thought to occur with anti-RNP but a few isolated cases have been recently published, the importance of which is not yet clear.", "affected": "Neonatal lupus is a rare condition that has occurred slightly more in female than male infants but is far less female gender dominant than systemic lupus erythematosus. Most symptoms of the disorder, except congenital heart block, are temporary (transient), usually resolving themselves within several months. The exact incidence is unknown, but congenital heart block is estimated to occur in 1 in 15,000 live births.  In general, the heart block associated with maternal autoantibodies occurs in the absence of any structural abnormalities of the heart.", "related-disorders": "Symptoms of the following disorders can be similar to those of neonatal lupus. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are several syndromes that are characterized by a skin rash that is present at birth (congenital) including Bloom syndrome, Rothmund-Thompson syndrome, Langerhans cell histiocytosis, granuloma annulare, juvenile dermatomyositis, tinea, corporis, erythema multiforme, atopic dermatitis, seborrheic dermatitis, and psoriasis. There are several infections that can occur the weeks just before or after birth (perinatally) including congenital rubella, congenital syphilis, cytomegalovirus, and group B Streptococcus. These disorders usually have additional findings that distinguish them from neonatal lupus. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1451", "name_zh": "CINCA综合征", "Name": "CINCA syndrome", "disease_name": "Neonatal-Onset Multisystem Inflammatory Disease", "synonyms": "chronic, infantile, neurological, cutaneous and articular syndrome", "disease-overview": "", "symptoms": "In addition to fever, symptoms of NOMID involve the skin, CNS and joints. Skin rashes occur in all patients within the first six weeks of life and persist throughout their lives. CNS symptoms include inflammation around the brain (chronic aseptic meningitis), cognitive/mental deficits/learning disabilities, and seizures and sensory organ dysfunction, which can result in vision and hearing loss. Joint inflammation and joint and bone deformities range in severity. Enlargement of the bones around the knee is also characteristic of NOMID.", "causes": "About 50-60 percent of those who are diagnosed with NOMID have an alteration (mutation) in the CIAS1/NLRP3 gene that codes for the protein cryopyrin (NALP3). Most of the NOMID patients originally described without identifiable mutations were later found to be have somatic mutations a small percentage of their white blood cells (somatic mosaics). Mutations in this gene result in increased activity of a protein complex containing cryopyrin known as the inflammasome, which regulates inflammation in the body. Increased inflammasome activity leads to an increased release of a protein known as interleukin (IL-1ß), which leads to symptoms of inflammation such as fever and joint pain.", "affected": "NOMID is a very rare disorder; approximately 100 affected individuals with different ethnic backgrounds have been widely reported. Males and females are equally affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of NOMID, and there is significant phenotypic overlap. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of NOMID is determined through an evaluation of a patient’s symptoms and medical history. Diagnosis includes: skin biopsy, eye exam, hearing test, brain MRI, joint x-rays and cerebrospinal fluid test (detects aseptic meningitis or high white blood counts in the spinal fluid). The diagnosis can be confirmed through genetic testing, but almost half of all NOMID patients do not have an easily identifiable mutation in the CIAS1/NLRP3 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95626", "name_zh": "获得性中枢性尿崩症", "Name": "Acquired arginine vasopressin deficiency", "disease_name": "Nephrogenic Diabetes Insipidus", "synonyms": "acquired nephrogenic diabetes insipidus", "disease-overview": "", "symptoms": "The symptoms of NDI can vary from one person to another. Some individuals may be more severely affected than others. The acquired form is almost always less severe than the hereditary forms. In hereditary X-linked NDI, symptoms usually appear shortly after birth and most children are diagnosed within the first year of life. In autosomal dominant NDI, symptoms tend to appear later in life, sometimes not until adulthood. The acquired form of NDI most often occurs in adults and the onset of symptoms may be slow.", "causes": "A variety of factors can cause acquired NDI. A common cause is chronic use of the drug lithium. Less common causes include protein malnutrition, a variety of kidney diseases, obstruction of the urinary tract and prolonged metabolic imbalances, specifically low levels of potassium in the blood (hypokalemia) or high levels of calcium in the blood (hypercalcemia). Other drugs such as certain antibiotics, antivirals, antifungals or antineoplastic drugs have been reported to potentially cause acquired NDI. During pregnancy, some women may develop a temporary (transient) form of NDI.", "affected": "The X-linked inherited form of NDI usually affects males. Females can be carriers of the X-linked type, may develop mild symptoms and can pass it on to their male offspring. The autosomal dominant, autosomal recessive and acquired forms of NDI affect males and females in equal numbers. The symptoms of NDI may begin at any age, usually rapidly and without warning. The incidence of NDI is not known; the X-linked form is estimated to affect 4 males out of every 1,000,000.", "related-disorders": "Symptoms of the following disorders can be like those of NDI. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of NDI may be suspected based upon the identification of characteristic findings, specifically excessive urination and excessive thirst. A thorough clinical evaluation, a detailed patient and family history, and a variety of specialized tests may be used to confirm a diagnosis. NDI may be suspected in children and adults who present with polyuria and polydipsia. Genetic testing can be done to look for variants in the V2R or AQP2 genes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:137617", "name_zh": "肾源性系统性纤维化", "Name": "Nephrogenic systemic fibrosis", "disease_name": "Nephrogenic Systemic Fibrosis", "synonyms": "gadolinium-associated nephrogenic systemic fibrosis", "disease-overview": "Nephrogenic systemic fibrosis (NSF) is a rare disorder that occurs in some individuals with reduced kidney function, who have been exposed to an intravenous contrast material that contains gadolinium. A contrast material is a dye that is sometimes used during magnetic resonance imaging (MRI). The term, fibrosis, refers to the thickening and scarring of connective tissue, most often the consequence of inflammation or injury. NSF is characterized by thickening and hardening (fibrosis) of the skin, subcutaneous tissues, and, sometimes, underlying skeletal muscle. The arms and legs are most often affected. In some cases, the skin on the trunk can also become involved. This proliferation of fibrotic tissue may become systemic, extending to other areas including the smooth, delicate membrane that surrounds the lungs (pleura), the sac surrounding the heart (pericardium), the thin sheet of muscle that aids respiration by moving up and down when breathing (diaphragm), and the outermost layer (dura mater) of the three membranes covering the brain and spinal cord.", "symptoms": "The symptoms of NSF may develop slowly over a few weeks to a few months after exposure to gadolinium-based contrast agents. The severity and progression of the disorder can vary from one person to another. The disorder can have a rapid, progressive course and can cause debilitating symptoms. In rare, rapidly-progressive cases, NSF can contribute to the development of severe, life-threatening complications.", "causes": "The exact underlying cause of NSF is not fully understood. The disorder occurs in individuals with advanced kidney disease who have been exposed to gadolinium-based contrasts agents that are used in magnetic resonance imaging.", "affected": "NSF was first reported in the medical literature in 2000. The first case was noted in 1997. Researchers believe that the perceived safety and increased availability of gadolinium-based contrast dyes contributed to the rise of NSF since 1997.", "related-disorders": "Symptoms of the following disorders can be similar to those of NSF.", "diagnosis": "Diagnostic criteria for NSF have been recently developed. A diagnosis of NSF is usually made based upon a detailed patient history, a thorough clinical examination and identification of characteristic findings. Surgical removal and microscopic study of a small sample of affected skin tissue (skin biopsy) is required to verify the diagnosis. Additional tests may be performed to exclude several other disorders that can resemble NSF.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2671", "name_zh": "Neu-Laxova综合征", "Name": "Neu Laxova Syndrome", "disease_name": "Neu Laxova Syndrome", "synonyms": "NLS", "disease-overview": "Neu-Laxova syndrome (NLS) is a rare genetic disorder that is inherited as an autosomal recessive trait. The syndrome is characterized by severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region. These may include marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), and other malformations, resulting in a distinctive facial appearance. NLS is also typically characterized by abnormal accumulations of fluid in tissues throughout the body (generalized edema); permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain, skin, genitals, kidneys, and/or heart.", "symptoms": "NLS is associated with distinctive abnormalities before birth. These may include severely delayed growth (intrauterine growth retardation); excessive fluid in the thin-walled membrane (amniotic sac) surrounding the fetus during pregnancy (polyhydramnios); abnormally reduced fetal movements; a short umbilical cord; and an abnormally small placenta. (The placenta is the organ within the uterus that joins the blood supplies of the mother and the developing fetus.) In addition, in some cases, the umbilical cord may have only two blood vessels. (The umbilical cord, which is the flexible structure that connects the fetus with the placenta, normally has two umbilical arteries as well as a larger umbilical vein.)", "causes": "NLS is transmitted as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "NLS appears to affect males and females in relatively equal numbers. Since the disorder was originally described in three siblings in 1971 (Neu, RL) as well as three siblings in another family in 1972 (Laxova, R), over 30 additional cases have been reported. Investigators suggest that the disorder may have a higher frequency in Pakistanis than in other geographic or ethnic populations.", "related-disorders": "Symptoms of the following disorders may be similar to those of NLS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare genetic disorder that is sometimes referred to as Pena-Shokeir syndrome type II. Some researchers suggest that NLS and COFS syndrome may represent the same disease entity. (Other investigators have indicated that COFS syndrome and another condition known as Bowen Hutterite syndrome may be the same disorder. [For information on Bowen Hutterite syndrome, please see the description below.]) COFS syndrome is characterized by severe, progressive growth delays after birth (postnatal growth deficiency); characteristic craniofacial malformations, resulting in a distinctive facial appearance; eye (ocular) abnormalities; musculoskeletal defects; and malformations and progressive degenerative changes of the brain and spinal cord (central nervous system). Infants with COFS syndrome fail to gain weight as expected and experience little growth despite an apparently sufficient intake of calories (failure to thrive). Distinctive craniofacial malformations include an unusually small head (microcephaly); a prominent nose and high nasal bridge; an overhanging upper lip; a small mouth, underdeveloped jaw (micrognathia), and receding chin; and large, low-set ears. Most affected infants also have narrow eyelid folds (palpebral fissures), unusually small eyes (microphthalmia), loss of transparency of the lenses of the eyes (cataracts), and/or other ocular abnormalities. Characteristic musculoskeletal defects include permanent flexion of certain fingers (camptodactyly) and particular joints of the arms and legs (flexion contractures); abnormal front-to-back and/or sideways curvature of the spine (kyphosis and/or scoliosis); rocker-bottom feet; characteristic defects of the hips and pelvis; and/or other abnormalities. In addition, central nervous system (CNS) abnormalities are usually present including severe intellectual disability; certain malformations of the brain (e.g., cerebellar hypoplasia, hypoplasia or agenesis of the corpus callosum); and progressive degeneration of myelin (demyelination), a fatty, protective substance around certain nerve fibers that enables the effective transmission of nerve signals. Infants and children with the disorder are also prone to repeated respiratory infections and may experience increasing difficulties breathing (respiratory distress). COFS syndrome is thought to be inherited as an autosomal recessive trait. (For further information, choose Cerebro-oculo-facio-skeletal or COFS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:263440", "name_zh": "神经棘红细胞增多症", "Name": "Neuroacanthocytosis", "disease_name": "Neuroacanthocytosis", "synonyms": "Levine-Critchley syndrome", "disease-overview": "Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. The onset, severity and specific physical findings vary depending upon the specific type of neuroacanthocytosis present. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). These disorders are inherited although the mode of transmission can vary. There is disagreement in the medical literature about what disorders should be classified as forms of neuroacanthocytosis. Four distinct disorders are usually classified as the core neuroacanthocytosis syndromes – chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). Some medical sources also include abetalipoproteinemia and hypobetalipoproteinemia types I and II as forms of neuroacanthocytosis. This report concentrates only on the four core disorders of neuroacanthocytosis. NORD has a separate report on abetalipoproteinemia.", "symptoms": "The symptoms and severity of neuroacanthocytosis can vary from one person to another, even among individuals with the same subtype or among individuals within the same family. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The four core disorders under the umbrella term neuroacanthocytosis are genetic disorders. They are caused by mutations in specific genes. The mode of inheritance and age of onset varies.", "affected": "Chorea-acanthocytosis most often affects individuals between the ages of 20 and 40, although in rare cases, it can develop in individuals younger than 20 and older than 50. McLeod syndrome typically develops in males between the ages of 40-60. PKAN most often affects children under the age of 10, although in atypical cases onset is often after the age of 20. The age of onset of Huntington’s disease-like 2 is variable. The disorder has been reported only in a few families, all of whom are of African descent. Chorea-acanthocytosis, PKAN and Huntington’s disease-like 2 affect males and females in equal numbers. McLeod syndrome predominantly affects males, although in rare cases females have developed some symptoms of the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of neuroacanthocytosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of neuroacanthocytosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal the presence of acanthocytes in the blood, although their absence does not exclude a diagnosis of neuroacanthocytosis. Imaging techniques may aid in obtaining a diagnosis and include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. CT scanning or an MRI may reveal characteristic changes in the brain in individuals with neuroacanthocytosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:636", "name_zh": "神经纤维瘤病1型", "Name": "Neurofibromatosis 1", "disease_name": "Neurofibromatosis 1", "synonyms": "NF1", "disease-overview": "", "symptoms": "The diagnostic criteria for NF1 were updated by international consensus in 2021. Based on the new criteria, an individual who does not have a parent diagnosed with NF1 will meet clinical diagnostic criteria for NF1 if they demonstrate at least two of the following:", "causes": "In about 50% of individuals with NF1, the disorder is inherited from a parent. Only one parent need be affected to cause a child to have NF1 (autosomal dominant inheritance). NF1 does not skip generations. Sporadic or random pathogenic variants in the gene responsible for NF1 account for the remaining 50% of cases and occur when a child has NF1 but neither parent does.", "affected": "NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.", "related-disorders": "Symptoms of the following disorders may be similar to those of NF1. Comparisons may be useful for a differential diagnosis:", "diagnosis": "NF2-related schwannomatosis (NF2) is a rare disorder that is genetically distinct from NF1. NF2 is characterized by noncancerous (benign) tumors on both auditory nerves (vestibular schwannomas) and in other areas of the body. Other tumors of the central nervous system may develop including meningiomas and/or ependymomas. Individuals with NF2 do not typically have cafe-au-lait macules or abnormal skin freckling. Other symptoms of NF2 may include problems with balance, buzzing or ringing in the ears (tinnitus), progressive hearing loss or facial weakness. (For more information on this disorder, choose NF2 as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:94093", "name_zh": "神经阻滞剂恶性综合征", "Name": "Neuroleptic Malignant Syndrome", "disease_name": "Neuroleptic Malignant Syndrome", "synonyms": "Drug-Induced Movement Disorder", "disease-overview": "Neuroleptic malignant syndrome is a rare but potentially life-threatening reaction to the use of almost any of a group of antipsychotic drugs or major tranquilizers (neuroleptics). These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Several of the more commonly prescribed neuroleptics include thioridazine, haloperidol, chlorpromazine, fluphenazine and perphenazine.", "symptoms": "Symptoms of neuroleptic malignant syndrome usually include very high fever (102 to 104 degrees F), irregular pulse, accelerated heartbeat (tachycardia), increased rate of respiration (tachypnea), muscle rigidity, altered mental status, autonomic nervous system dysfunction resulting in high or low blood pressure, profuse perspiration, and excessive sweating.", "causes": "Neuroleptic malignant syndrome comes about, most likely, as a result of dopamine D2 receptor antagonism. Dopamine is a chemical substance (neurotransmitter) found in the brain and elsewhere in the central nervous system that acts to convey messages from one cell to another. In some way, the use of a particular drug blocks the receptor in the brain cell for dopamine.", "affected": "Neuroleptic malignant syndrome may affect any person taking neuroleptic drugs. Men appear to be at higher risk than women. Some clinicians believe that the stronger neuroleptic medications are more likely to precipitate an attack of NMS.", "related-disorders": "Symptoms of the following disorders can be similar to those of neuroleptic malignant syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Anaphylaxis is an abnormally severe allergic reaction to a substance. Major symptoms may include severe itching, hives, flushing, swelling, vomiting, diarrhea, difficulty breathing and unconsciousness. High fever is not a symptom of this disorder. (For more information on this disorder, choose Anaphylaxis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71211", "name_zh": "视神经脊髓炎", "Name": "Neuromyelitis optica spectrum disorder", "disease_name": "Neuromyelitis Optica Spectrum Disorder", "synonyms": "(Asian, Japanese) opticospinal MS", "disease-overview": "Neuromyelitis optica spectrum disorder (NMOSD), also known as Devic disease, is a chronic disorder of the brain and spinal cord dominated by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). Classically, it was felt to be a monophasic illness, consisting of episodes of inflammation of one or both optic nerves and the spinal cord over a short period of time (days or weeks) but, after the initial episode, no recurrence. It is now recognized that most patients satisfying current criteria for NMOSD experience repeated attacks separated by periods of remission. The interval between attacks may be weeks, months or years. In its early stages, NMOSD may be confused with multiple sclerosis (MS).", "symptoms": "The characteristic symptoms of NMOSD are either optic neuritis or myelitis; either may occur as the first symptom. Optic neuritis is inflammation, of the optic nerve (optic neuritis) leading to pain inside the eye which rapidly is followed by loss of clear vision (acuity). Usually, only one eye is affected (unilateral) although both eyes may be involved simultaneously (bilateral). NMOSD may or may not be preceded by a prodromal upper respiratory infection.", "causes": "Greater than 95% of patients with NMOSD report no relatives with the disease, but approximately 3% report having other relatives with the condition. There is a strong association with a personal or family history of autoimmunity, which are present in 50% of cases. NMOSD is regarded as an autoimmune disease though the exact cause for the autoimmunity is unknown.", "affected": "NMOSD occurs in individuals of all races. The prevalence of NMOSD is approximately 1-10 per 100,000 individuals and seems to be similar worldwide, although somewhat higher rates have been reported in countries with a higher proportion of individuals of African ancestry. Relative to MS that it mimics, it occurs with greater frequency in individuals of Asian and African descent, but the majority of patients with this illness in Western countries are Caucasian. Individuals of any age may be affected, but typically NMOSD, especially cases seropositive for AQP4-IgG, occur in late middle-aged women. Equal numbers of men and women have the form that does not recur after the initial flurry of attacks, but women, especially those with AQP4-IgG, are four or five times more likely to be affected than men by the recurring (relapsing) form. Children represent may also be affected by this condition; children more commonly develop brain symptoms at onset and seem to have a higher frequency of monophasic presentation than adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of NMOSD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acute disseminated encephalomyelitis (postinfectious encephalitis) is a central nervous system disorder characterized by inflammation of the brain and spinal cord caused by damage to the fatty sheath surrounding the nerves. This can occur spontaneously, but usually follows a viral infection or inoculation such as a bacterial or viral vaccine. Individuals with acute disseminated encephalomyelitis may have MOG-IgG, adding extra confusion.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99951", "name_zh": "腓骨肌萎缩症4E型", "Name": "Neuropathy, Congenital Hypomyelination", "disease_name": "Neuropathy, Congenital Hypomyelination", "synonyms": "Charcot-Marie-Tooth Type 4E", "disease-overview": "Congenital hypomyelination neuropathy (CHN) is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia), absence of reflexes (areflexia), difficulty in walking (ataxia), and/or impaired abilities to feel or move part of the body.", "symptoms": "Symptoms of congenital hypomyelination neuropathy and the severity of these symptoms vary from patient to patient.  Major symptoms can include delayed motor (muscle) development (ability to turn over, stand, crawl, walk, etc.), muscle weakness, poor muscle tone (hypotonia), impaired muscle coordination, absence of reflexes (areflexia), difficulty in walking or crawling, and/or impaired ability to feel or move part of the body (mild distal palsy).  In some infants, respiratory problems or difficulty in swallowing may occur. Abnormal microscopic changes in certain nerves such as sural nerves (located in the calf of the leg) can occur.", "causes": "The exact cause of congenital hypomyelination neuropathy is not known.  The cause of many disorders involving the myelin sheath (the protective sheath surrounding the nerves), such as multiple sclerosis, is unknown.  A recurrent loss and repair of myelin causes congenital hypomyelination neuropathy. Scientists do not yet know why the myelin disappears, nor do they know why it grows back.", "affected": "Congenital hypomyelination neuropathy is a rare disorder present at birth. It affects males and females in equal numbers.", "related-disorders": "Symptoms of the following diseases may be similar to those of congenital hypomyelination neuropathy.", "diagnosis": "Testing for congenital hypomyelination neuropathy includes measuring the velocity of transmission of electrical impulses produced by the muscles (electromyogram), as well as nerve and/or muscle biopsies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:137596", "name_zh": "神经营养性角膜病变", "Name": "Neurotrophic keratopathy", "disease_name": "Neurotrophic Keratitis", "synonyms": "neurotrophic keratopathy", "disease-overview": "Neurotrophic keratitis is a rare eye disorder that affects the cornea. The cornea is the clear (transparent) outer layer at the front of the eye. It functions like a window that focuses the entry of light into the eye. The cornea bends light allowing it to pass through the pupil of the eye, eventually reaching the retina, where specialized cells called cones and rods convert light to nerve impulses. These impulses travel along the optic nerve to the brain to become images.", "symptoms": "Early on, affected individuals may not have any symptoms of the disorder (asymptomatic). Because the sensitivity of the cornea is reduced, affected individuals often do not complain of pain or discomfort in the eye. Blurred vision, red eyes, dry eyes, and decreased clarity (acuity) of vision can develop. Affected individuals may become extremely sensitive to light (photophobia). The affected cornea can be injured easily, and it heals itself slower than an unaffected cornea does (poor wound healing). This leaves the cornea susceptible to damage. Affected individuals may experience frequent or recurrent corneal erosions, which is when an opening in the epithelial layer develops (epithelial defect). Since the epithelial layer is the protective layer of the cornea, an epithelial defect can leave the eye more susceptible to infection. Patients may or may not be aware of an open epithelial defect because of the reduced or lack of pain in this disease.", "causes": "Neurotrophic keratitis can be caused by any condition or disorder that affects the nerves that serve the cornea. The main nerve that serves the cornea is called the trigeminal nerve, which is also called the fifth cranial nerve. Damage to the ophthalmic division of the trigeminal nerve, which serves the cornea, can cause neurotrophic keratitis.", "affected": "Neurotrophic keratitis is a rare disorder. One estimate is that the prevalence is below 5 people per every 10,000 in the general population. Prevalence is the number of people who have a disorder in a specific population at a given time. It is possible that the prevalence is higher because this condition is likely underdiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of neurotrophic keratitis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of neurotrophic keratitis is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis should be suspected in individuals with unexplained signs of reduced corneal sensitivity and damage to the cornea.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:377", "name_zh": "Gorlin综合征", "Name": "Gorlin syndrome", "disease_name": "Nevoid Basal Cell Carcinoma Syndrome", "synonyms": "basal cell nevus syndrome", "disease-overview": "", "symptoms": "NBCCS can potentially affect multiple organ systems in the body. However, affected individuals usually will not develop all of the symptoms discussed below. The severity of NBCCS can vary, and some individuals with mild forms can go undiagnosed, while others can have significant complications. Affected individuals and parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Nearly all cases of NBCCS have been caused by a variant in the PTCH1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "The exact prevalence of NBCCS is unknown. The figure most quoted in the medical literature is 1 individual per 57,000 people in the general population. This figure was based upon a population study in the United Kingdom. However, the authors of that study have revised that figure to approximately 1 in 30,000. The true prevalence of NBCCS in the general population may be higher because mildly affected individuals can go undiagnosed or misdiagnosed. The population prevalence of damaging genetic mutations in PTCH1 (https://gnomad.broadinstitute.org/gene/ENSG00000185920?dataset=gnomad_r4) would predict a disease prevalence that may be as high as 1/12,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of NBCCS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of NBCCS is based on identification of a disease-causing variant in   PTCH1, PTCH2 or SUFU. Genetic testing is almost always positive in typical cases of NBCCS. However, there are rare gene variants that are missed by standard laboratory procedures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35125", "name_zh": "表皮痣综合征", "Name": "Epidermal nevus syndrome", "disease_name": "Nevus Sebaceus Syndrome", "synonyms": "epidermal nevus syndrome", "disease-overview": "Introduction", "symptoms": "The specific symptoms and severity of nevus sebaceus syndrome can vary greatly from one person to another. It is important to note that affected individuals may not have all the symptoms discussed below. Affected individuals or their parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Individuals with nevus sebaceus syndrome have variants of the KRAS and HRAS genes that are not inherited but occur after fertilization of the embryo (postzygotic). HRAS and KRAS variants have also been found in people with isolated sebaceous nevi who do not have abnormalities in other organs. These gene variants are only found in the nevi and are not present in the surrounding skin.", "affected": "Nevus sebaceus syndrome affects males and females in equal numbers. The exact prevalence and incidence of the disorder in the general population are unknown. Epidermal nevi—as an isolated finding or a part of a syndrome—have been reported to occur in approximately 1 to 3 per 1,000 live births.", "related-disorders": "Keratinocytic epidermal nevus (KEN) syndrome is a form of epidermal nevus syndrome involving a keratinocytic epidermal nevus. The lesions of this disorder are characterized by epidermal hyperplasia, without the enlarged and malformed sebaceous glands seen in sebaceus nevi. The associated abnormalities in other organs are similar to those seen in nevus sebaceus syndrome. The exact same postzygotic variants of the KRAS and HRAS genes have been identified in KEN. KEN has also been associated with variants in the FGF3 gene and keratins 1 and 10 (causing epidermolytic KEN).", "diagnosis": "A diagnosis of nevus sebaceus syndrome is made based upon identification of characteristic symptoms (e.g., a sebaceous nevus, along with abnormalities affecting other organ systems). A detailed patient history and a thorough clinical evaluation are crucial to the diagnosis and management of this disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:637", "name_zh": "神经纤维瘤病2型", "Name": "NF2-Related Schwannomatosis", "disease_name": "NF2-Related Schwannomatosis", "synonyms": "Bilateral acoustic neurofibromatosis (BANF)", "disease-overview": "NF2-related schwannomatosis (NF2; previously known as neurofibromatosis 2) is a rare genetic disorder that is primarily characterized by noncancerous (benign) tumors of the nerves that transmit balance and sound impulses from the inner ears to the brain (bilateral acoustic neuromas/vestibular schwannomas). Symptoms may become apparent during childhood, adolescence, early adulthood or later in adult life. Depending on the exact location and size of the acoustic neuromas/vestibular schwannomas, or other schwannomas such findings may include problems with balance and walking (gait); dizziness; headache; facial weakness, numbness, or pain; but more typically ringing in the ears (tinnitus); and/or progressive hearing loss.", "symptoms": "The characteristic symptoms of NF2 usually develop around the time of puberty or during early adulthood. These symptoms may include problems with balance, buzzing or ringing in the ears (tinnitus) and/or gradual hearing loss. These symptoms usually result from the presence of benign tumors on both vestibular nerves pressing on the adjacent auditory nerves (acoustic neuromas vestibular schwannomas). Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Other tumors of the central nervous system may also develop, and can include hybrid tumors, meningiomas, low grade ependymomas of the spinal cord), and non-vestibular schwannomas on the other cranial nerves, spinal nerves or peripheral nerves. The size, location, and number of tumors may vary in different people affected. (For more information on tinnitus, choose tinnitus as your search term in the Rare Disease Database.)", "causes": "NF2 is caused by a variant in the NF2 gene. The NF2 gene regulates (encodes for) the production of a protein known as merlin/schwannomin that plays a role in suppressing the development of certain tumors (tumor suppressor). According to investigators, merlin/schwannomin is related to a class of proteins (ezrin-radixin-moesin proteins) that serve to link the internal, supportive system within a cell (cytoskeleton) to proteins in cell membranes. Several different types of variants of the NF2 gene have been identified in individuals with the disorder (e.g., large deletions, nonsense, splice site, missense and frameshift variants). Investigators suggest that different variants in the gene may contribute to the wide variability of symptoms and findings in affected individuals.", "affected": "NF2 is a rare disorder that affects males and females in equal numbers. All races and ethnic groups are equally affected by this disorder. The estimated incidence of NF2 is 1 in 33,000 people worldwide. The symptoms of this disease typically become apparent during puberty or early adulthood. The average age of onset is 18 to 24 years.", "related-disorders": "Symptoms of the following disorders can be similar to those of neurofibromatosis 2. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Neurofibromatosis 1 (NF1)", "therapies": "The treatment of vestibular (acoustic) neuromas associated with NF2 is the surgical removal of the tumors, when possible. The surgical procedure that is performed is based upon the size and precise location of the tumors. Radiation therapy may be considered for some individuals with this disorder, especially those who are not candidates for surgery. The VEGF inhibitor bevacizumab may also be considered to treat rapidly growing schwannomas."}
{"OrphaCode": "ORPHA:404454", "name_zh": "无泪-舞蹈手足徐动症-肝功能障碍综合征", "Name": "Alacrimia-choreoathetosis-liver dysfunction syndrome", "disease_name": "NGLY1 Deficiency", "synonyms": "NGLY1-related congenital disorder of deglycosylation", "disease-overview": "NGLY1 deficiency is a rare disorder that can affect multiple systems of the body. Affected individuals may have delays in reaching developmental milestones, intellectual disability, movement disorders, seizures, liver disease, and an inability to produce tears when they cry (alacrima), or they may produce tears very infrequently. The specific symptoms and severity of this disorder can vary dramatically among affected individuals. Additional symptoms can develop in some children. NGLY1 deficiency is caused by a disease causing (pathogenic) variant (mutation) in the NGLY1 gene. This variant is inherited in an autosomal recessive pattern. As of April of 2021, fewer than 100 individuals with NGLY1 deficiency have been identified. It is possible that only the most severely affected children have been diagnosed and that descriptions of this disorder reflect these severely affected individuals. This happens because more severely affected children are more likely to be referred to specialists, receive genetic testing, and receive a diagnosis. Some researchers believe that affected individuals with milder forms of NGLY1 deficiency most likely exist.", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. As researchers learn more about the disorder, the potential spectrum or specific pattern of symptoms will be clearer. Therefore, it is important to note that every child is unique and that an individual child may not have all the symptoms discussed below.", "causes": "NGLY1 deficiency is caused by disease causing (pathogenic) variants in the NGLY1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "NGLY1 deficiency is an extremely rare disorder that was first reported in the medical literature in 2012. According to the NGLY1 Foundation, as of April 2021, there are approximately 75 individuals worldwide who have been identified with the disorder. Rare diseases like NGLY1 deficiency often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of NGLY1 deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of NGLY1 deficiency is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. There are no formal diagnostic criteria established for this disorder. A combination of characteristic symptoms including developmental delays, alacrima, hyperkinetic movement disorders, and liver disease may prompt testing for the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:646", "name_zh": "Niemann-Pick病C型", "Name": "Niemann Pick Disease Type C", "disease_name": "Niemann Pick Disease Type C", "synonyms": "NPC", "disease-overview": "", "symptoms": "Individuals with NPC can have onset of symptoms at different ages that have been grouped historically as: perinatal (shortly before and after birth), early infantile (3 months to < 2 years), late infantile (2 to < 6 years), juvenile (6 to < 15 years), and adult (15 years and greater).  NPC affects neurologic and psychiatric functions, as well as various internal organs (visceral).  Symptoms arise at different times and follow independent progression.  Visceral symptoms are more typically seen in individuals presenting at a younger age.  Neurologic and psychiatric symptoms often occur slowly over time, and thus feature more prominently in individuals presenting in the later age groups.", "causes": "Individuals with NPC have mutations in one of two genes, NPC1 or NPC2. Approximately 95% of affected individuals have mutations in NPC1. Genes provide instructions for producing proteins that play a critical role in many functions of the body. Mutations in a gene may lead to the production of a protein that has reduced or abnormal functions, or to the absence of the protein. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "NPC affects males and females in equal numbers, and can affect individuals of any ethnic background (pan ethnic). NPC is estimated to occur in 1 in 100,000-120,000 live births. However, many cases go misdiagnosed or undiagnosed, making it difficult to determine the disorder’s true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of NPC. Comparisons may be useful in considering other potential diagnoses.", "diagnosis": "Niemann-Pick disease type C is diagnosed based on characteristic symptoms obtained from a thorough clinical evaluation (see under Signs and Symptoms), and confirmed by a variety of specialized tests. Proper diagnosis of NPC requires physicians to suspect the diagnosis based upon symptoms, and to follow up with appropriate laboratory tests to evaluate the function of the protein or the presence of accumulated byproducts (biochemical tests), and to identify mutations in the NPC1 or NPC2 gene (gene sequencing).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:31204", "name_zh": "诺卡菌病", "Name": "Nocardiosis", "disease_name": "Nocardiosis", "synonyms": "Lung Nocardiosis", "disease-overview": "Nocardiosis is an infectious pulmonary disease characterized by abscesses in the lungs. These abscesses may extend through the chest wall. The infection is spread through the body via the bloodstream by a microorganism called Nocardia asteroides.", "symptoms": "Most cases of nocardiosis begin as pulmonary infections that develop into lung abscesses.  Symptoms may include chest pain, cough, bloody sputum, sweats, chills, weakness, lack of appetite, weight loss and difficult or labored breathing.  Nocardiosis symptoms are similar to those of pneumonia and tuberculosis.", "causes": "Nocardiosis is caused by Nocardia asteroides, a bacterium that is carried up into the air from the ground and may be inhaled.  Other species of the same family of bacteria such as Nocardia brasiliensis, Nocardia caviae, and Nocardia farcinica, are also known to cause disease. The organism usually enters the body through the lungs or, more rarely, through the gastrointestinal tract or the skin.", "affected": "Nocardiosis occurs worldwide.  Those affected tend to be older adults, and males are more often affected than are females.", "related-disorders": "Symptoms of the following disorders can be similar to those of Nocardiosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Actinomycosis is a chronic infectious disease characterized by draining sinuses.  The microorganisms which cause Acitnomycosis are often found on the gums, tonsils and teeth.  Actinomycosis most commonly affects adult males. The most common entry into the body for the infecting microorganism is through decayed teeth.  Pulmonary or abdominal disease may also occur due to this infection.  The infection causes  small abscesses which spread to adjoining tissue.  The abdominal form of the infection produces symptoms of pain, fever, vomiting, diarrhea or constipation and emaciation.   There may be an abdominal mass with signs of intestinal obstruction, and draining pus may develop in the abdominal wall.  In the thoracic form of the infection, lung infection may resemble tuberculosis with chest pain, fever and a cough with sputum.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:73267", "name_zh": "非24小时睡眠-觉醒综合征", "Name": "Non-24-Hour Sleep-Wake Disorder", "disease_name": "Non-24-Hour Sleep-Wake Disorder", "synonyms": "circadian rhythm sleep disorder, free-running type", "disease-overview": "Non-24-hour sleep-wake disorder (N24) is a circadian rhythm sleep disorder in which an individual’s biological clock fails to synchronize to a 24-hour day. Instead of sleeping at roughly the same time every day, someone with N24 will typically find their sleep time gradually delaying by minutes to hours every day. They will sleep at later and later clock times until their sleep periods go all the way around the clock. (In extremely rare cases the sleep rhythm will gradually advance rather than delay.) Patients’ cycles of body temperature and hormone rhythms also follow a non-24-hour rhythm. Attempts to fight against this internal rhythm and sleep on a typical schedule result in severe and cumulative sleep deprivation. N24 occurs in 55-70% of completely blind people, but also occurs in an unknown number of sighted people.", "symptoms": "As most people are required to keep a regular schedule for work, school, or other social obligations, the first symptoms of N24 usually noticed are periodic night-time insomnia and excessive daytime sleepiness. Due to the cyclical nature of the disorder, some affected persons will tend to feel normal for periods of days to weeks when their body’s rhythm is synchronized with the rhythm of society around them. As the individual’s body once again desynchronizes from the rhythms of the light-dark cycle (or day-night cycle) and the obligations the individual with N24 is trying to maintain, the insomnia and excessive daytime sleepiness will return.", "causes": "All life on earth has evolved in conditions of a 24-hour day-night (light-dark) cycle. Organisms have evolved mechanisms to time their cellular and metabolic processes to anticipate this daily rhythm. As a result, within nearly all cells of the human body there is a biological clock based on a cycle of DNA and protein synthesis. Clock gene activity has been found within white blood cells and cells of the heart, brain, liver and many other tissues.", "affected": "While the total number of people living with N24 is unknown, researchers assume that more blind people are affected than sighted people. It is estimated that 55-70% of all people who are totally blind have N24. People who lack any light perception (for example those whose eyes are enucleated) are more likely to be affected than those with some retinal function. The frequency of N24 among the sighted is unknown but the world-wide medical literature provides case studies of roughly 100 sighted individuals with N24. Fifty-seven of these cases appear in a single Japanese study. The Circadian Sleep Disorders Network (see under organizations) has 98 members who have indicated they or a family member have N24. The Facebook N24 group has over 500 members but it is not known how many are actual patients. As the condition is not widely known, there may be a significant number of undiagnosed cases.", "related-disorders": "Symptoms of the following disorders can be similar to those of N24. Comparisons may be useful for differential diagnosis.", "diagnosis": "Initial diagnosis is based on home sleep logs kept by the patient that show a non-24-hour sleep pattern. This is usually more easily distinguished if the patient’s sleep times are not constrained by social or occupational obligations.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:407", "name_zh": "甘氨酸脑病", "Name": "Glycine encephalopathy", "disease_name": "Nonketotic Hyperglycinemia", "synonyms": "glycine encephalopathy", "disease-overview": "Non-ketotic hyperglycinemia (NKH) is a rare, genetic, metabolic disorder caused by a defect in the enzyme system that breaks down the amino acid glycine, resulting in an accumulation of glycine in the body’s tissues and fluids. There is a classical form of NKH and a variant form of NKH. The classical form is then further divided into severe disorder or an attenuated form (mild form).", "symptoms": "The severe classic form of NKH typically presents in the first week of life with low muscle tone, lethargy, seizures, coma, and apnea requiring ventilator support. The ventilator is typically needed for a period of 10-20 days before the apnea resolves. A portion of individuals with severe classical NKH die during the neonatal period, often due to withdrawal of intensive care supports.  All children with severe classical NKH who survive the neonatal period have severe developmental delay. Most individuals do not reach milestones past those reached by the typical 6-week-old infant. Seizures gradually worsen and can be difficult to control. Feeding difficulties and orthopedic problems can occur. Airway maintenance becomes poor over time due to low muscle tone, and is often the cause of death.", "causes": "Classic NKH is caused by genetic variants (mutations) in the genes that encode the components of the glycine cleavage enzyme system. This enzyme system is responsible for breaking down the amino acid glycine in the body. When it is not working properly, glycine accumulates in the body, resulting in the symptoms associated with NKH.", "affected": "The incidence of NKH is predicted to be approximately 1:76,000. NKH can occur in individuals of any ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of non-ketotic hyperglycinemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ketotic hyperglycinemia: propionic acidemia, methlymalonic acidemia, isovalerica acidema and B-ketothiolase deficiency. These patients have elevated glycine due to interference with the glycine cleavage enzyme system, but do not resemble NKH clinically.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:411703", "name_zh": "肺非结核分枝杆菌感染", "Name": "Pulmonary non-tuberculous mycobacterial infection", "disease_name": "Nontuberculous Mycobacterial Lung Disease", "synonyms": "Mycobacteria other than tuberculosis (MOTT)", "disease-overview": "Nontuberculous mycobacterial (NTM) lung disease is a general term for a group of disorders characterized by exposure to specific bacterial germs known as mycobacteria. These germs are found in the water and soil and are common throughout the environment as a whole. They usually do not cause illness. The term ‘nontuberculous’ is used to differentiate these disorders from the mycobacterium that cause tuberculosis (i.e. mycobacterium tuberculosis complex). These disorders also exclude Mycobacterium leprae, the mycobacterium that causes leprosy. In NTM disorders, the severity of infection and the disease course can vary greatly from one person to another. The most common symptoms include a persistent cough, fatigue, weight loss, night sweats, and occasionally shortness of breath (dyspnea) and coughing up of blood (hemoptysis). Less often, NTM infection can cause skin or soft tissue infections or infection and inflammation of the lymph nodes (lymphadenitis). Most evidence indicates that these infections are not transmitted from one person to another, but are acquired from the environment. NTM lung disease most commonly affects people with an underlying lung disease such as chronic obstructive pulmonary disease (COPD), bronchiectasis, cystic fibrosis, primary ciliary dyskinesia, and alpha-1-antitrypsin disease, but individuals with no prior history of lung disease can also be affected. Less severe infections may not require treatment. In other cases, the infection can become chronic requiring ongoing treatment.", "symptoms": "The symptoms and severity can vary greatly from one person to another. The reason for this variability is not fully understood. Chronic lung infection is the most common complication affecting approximately 94% of individuals. The symptoms are usually nonspecific and similar to the symptoms seen in other lung or respiratory infections. Such symptoms include cough, fatigue, shortness of breath (dyspnea), coughing up of blood (hemoptysis), excessive mucus (sputum) production, fever, night sweats, loss of appetite, and unintended weight loss. Wheezing and chest pain may also occur. Affected individuals may experience recurrent respiratory infections. In some cases, these infections can cause progressive damage to the lungs and, eventually, the lungs will not function as well as they should (impaired lung function).", "causes": "Nontuberculous mycobacterial lung disease is caused by infection with specific bacterial germs known as mycobacteria. These germs are commonly found throughout the environment. Most people do not become sick when exposed to these germs. More than 120 species of mycobacteria have been identified that can cause disease in humans. The most common are Mycobacterium avium complex or MAC. MAC encompasses three mycobacterial species known as M. avium,M. intracellulare, and M. chimaera. Collectively, these species account for approximately half of all mycobacterial infections.", "affected": "In North America, the incidence of nontuberculous mycobacterial lung disease is rising, particularly among the elderly. Generally, NTM infection is more common in Caucasians, Asians and individuals with a compromised immune system. The incidence and prevalence rates reported in the medical literature varies and because many cases may go undiagnosed or misdiagnosed determining the true frequency of NTM infections in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of nontuberculous mycobacterial lung disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of nontuberculous mycobacterial lung disease is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. However, the diagnosis can be challenging because the characteristic signs and symptoms are highly variable and nonspecific. A diagnosis of NTM includes ruling out other diseases such as tuberculosis or lung cancer.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:500", "name_zh": "努南综合征伴多发雀斑样痣", "Name": "Noonan syndrome with multiple lentigines", "disease_name": "Noonan Syndrome with Multiple Lentigines", "synonyms": "NSML", "disease-overview": "", "symptoms": "The symptoms and physical characteristics associated with NSML are highly variable. However, most affected individuals tend to exhibit characteristic abnormalities of the skin, the structure and function of the heart, the head and facial (craniofacial) area, and/or the genitals.", "causes": "NSML is an autosomal dominant genetic disorder caused by an abnormality (change) in one of two genes: PTPN11 or RAF1. Mutations in these genes also cause a different genetic condition called Noonan syndrome. Approximately 90% of individuals with NSML have a mutation in the PTPN11 gene and most individuals who do not have a PTPN11 gene mutation have a RAF1 gene mutation. A single patient with a mutation in the BRAF gene, belonging to the same molecular pathway as PTPN11 and RAF1, has been described.", "affected": "NSML is an extremely rare disorder that is believed to affect males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of NSML. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Noonan syndrome and NSML are both caused by mutations in the PTPN11 and RAF1 genes. The characteristics seen in both of these conditions include hypertelorism, broad chest, short stature, developmental delay, pulmonic stenosis, hypertrophic cardiomyopathy, and a chest abnormality. Noonan syndrome is an autosomal dominant genetic disorder characterized by a distinctive facial appearance, webbing of the neck (pterygium colli), short stature, chest abnormalities, congenital heart defects, and/or other abnormalities. Characteristic malformations of the head and facial (craniofacial) area may include widely-set eyes (ocular hypertelorism); downwardly slanting eyelid folds (palpebral fissures); drooping of the upper eyelids (ptosis) or unusually thick, hooded eyelids; a prominent upper lip; and/or low-set, prominent external ears (pinnae) that are abnormally rotated toward the back of the head (posteriorly angulated). Most affected individuals also have a distinctive chest malformation characterized by abnormal protrusion of the upper (superior) portion of the breastbone (sternum) and/or abnormal depression of the lower (inferior) portion of the breastbone (pectus carinatum and/or pectus excavatum, respectively). In many males with Noonan syndrome, one or both testes may have failed to descend into the scrotum (unilateral or bilateral cryptorchidism). In addition, affected individuals often have congenital heart defects, particularly obstruction of the normal flow of blood from the lower right chamber (ventricle) of the heart to the lungs (valvar pulmonary stenosis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:648", "name_zh": "Noonan综合征", "Name": "Noonan Syndrome", "disease_name": "Noonan Syndrome", "synonyms": "female pseudo-Turner syndrome", "disease-overview": "Noonan syndrome is a genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic features of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis) and thickening of the ventricular heart muscle (hypertrophic cardiomyopathy). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings.", "symptoms": "Individuals with Noonan syndrome have associated symptoms and physical findings that vary greatly in range and severity from person to person. Some affected individuals have only minor facial abnormalities; others may have the majority of symptoms and findings associated with the disorder, such as distinctive features of the head and facial (craniofacial) area, a broad or webbed neck, short stature, skeletal malformations, congenital heart defects, malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, attention issues, mild intellectual disability, and/or other abnormalities.", "causes": "Noonan syndrome is most often an autosomal dominant genetic disorder caused by abnormalities (mutations) in several different genes, the main ones being: PTPN11, KRAS, SOS1 RIT1 and RAF1. PTPN11 mutations have been found in approximately 50% of affected individuals; KRAS mutations have been found in fewer than 5% of those affected; SOS1 mutations have been seen in approximately 13% of people with Noonan syndrome; RIT1 mutations have been seen in approximately 5% of people with Noonan syndrome, and RAF1 mutations are observed in 5% of those affected. Additional genes associated with Noonan syndrome have been identified in fewer cases: NRAS, BRAF, MEK2, RRAS, RASA2, A2ML1, and SOS2. Two conditions with overlap are newly described in association with mutations in SHOC2 and CBL.  Noonan syndrome caused by pathogenic variants in LZTR1 can be inherited in either an autosomal dominant or an autosomal recessive manner.", "affected": "Noonan syndrome appears to affect more males than females and is thought to affect approximately one in 1,000 to one in 2,500 people. However, other reports indicate that the disorder may affect more than one in 1,000 newborns in the general population. Since Noonan syndrome was originally reported in 1883 (O. Kobylinski) and more thoroughly described in 1963 (J.A. Noonan and D.A. Ehmke), more than 500 patients shave been discussed in the medical literature. Because Noonan syndrome is extremely variable and therefore may be under- or misdiagnosed, it may be difficult to determine the true frequency of the disorder in the general population.", "related-disorders": "Symptoms of the following disorders may be similar to those of Noonan syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cardiofaciocutaneous (CFC) syndrome, an extremely rare genetic disorder, is characterized by a distinctive facial appearance similar to that seen in children with Noonan syndrome. Additional primary characteristics may include unusually sparse, brittle, curly hair; skin abnormalities; heart malformations that are present at birth (congenital heart defects); growth delays; and moderate to severe intellectual disability. Individuals with cardiofaciocutaneous syndrome typically have an unusually large head (macrocephaly), a prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); a short, upturned nose with a depressed nasal root; eye findings including downwardly slanting eyelids (palpebral fissures), widely spaced eyes (ocular hypertelorism), and/or drooping of the upper eyelids (ptosis). In most patients, congenital heart defects are also present, particularly obstruction of the normal flow of blood from the lower right chamber (ventricle) of the heart to the lungs (pulmonary valve stenosis) and/or an abnormal opening in the fibrous partition (septum) that divides the two upper chambers (atria) of the heart (atrial septal defects). Thickening of the heart muscle (hypertrophic cardiomyopathy) can also be found. In addition, most individuals with the disorder experience growth delays, moderate to severe intellectual disability, and abnormal delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Cardiofaciocutaneous syndrome is caused by mutations in several genes: BRAF, MEK1 and 2, and KRAS. (For more information choose CFC Syndrome as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:649", "name_zh": "诺里病", "Name": "Norrie disease", "disease_name": "Norrie Disease", "synonyms": "atrophia bulborum hereditaria", "disease-overview": "", "symptoms": "The main symptom of Norrie disease is a retinal degeneration which occurs before birth and results in blindness at birth (congenital) or early infancy, usually by 3 months of age. Visual failure in this disorder is characterized by the abnormal development of the neuroretina, the thin layer of nerve cells that lines the back of the eyes. The neuroretina senses light and converts it into nerve signals, which are then relayed to brain through the optic nerve.", "causes": "Norrie disease occurs due to a mutation of the NDP gene located on the X chromosome. The NDP gene encodes a protein known as norrin which plays a role in cell and tissue development. It is believed to be essential for the proper development of blood vessels (angiogenesis), especially those that supply blood to the retina and the cochlea of the inner ear. Norrin is an essential ligand for the frizzled-4 receptor of the Wnt cascade pathway, which contributes to cell development and specialization. Mutations in the NDP gene can prevent the protein from working correctly.", "affected": "The incidence and prevalence rates for Norrie disease are unknown. The disorder has been reported in all ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of Norrie disease. Comparisons may be useful for a differential diagnosis. Common differential diagnoses include retinoblastoma with unilateral pseudoglioma, retinopathy as a result of prematurity, persistent hyperplastic primary vitreous and familial exudative vitreoretinopathy.", "diagnosis": "A diagnosis of Norrie disease is suspected based upon a detailed patient history, a thorough clinical evaluation, and identification of characteristic findings. There may be a family history supporting X-linked inheritance. There are no biochemical or functional assays available for diagnosis. A diagnosis may be confirmed by molecular genetic testing in which a mutation in the NDP gene is identified.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163703", "name_zh": "感染发热相关癫痫综合征", "Name": "NORSE (New Onset Refractory Status Epilepticus) and FIRES (Febrile Infection-Related Epilepsy Syndrome)", "disease_name": "NORSE (New Onset Refractory Status Epilepticus) and FIRES (Febrile Infection-Related Epilepsy Syndrome)", "synonyms": "", "disease-overview": "Definitions and ", "symptoms": "In two-thirds of NORSE cases, the course of the syndrome begins with a mild febrile illness, associated with malaise, fatigue and symptoms of upper respiratory tract or gastro-intestinal tract infection. Symptoms of meningeal inflammation, such as headache and photophobia, are uncommon. Behavioral and cognitive symptoms, such as apathy or agitation, amnesia, and sometimes hallucinations can be observed. The presence of hallucinations may suggest an autoimmune etiology, especially anti-NMDA receptor encephalitis.", "causes": "The most common causes of NORSE and FIRES are autoimmune/paraneoplastic disorders, such as encephalitis associated with anti-neuronal antibodies (anti-NMDA receptor, anti-voltage-gated potassium channel complex, etc.), followed by viral encephalitis. Genetic epilepsy syndromes associated with sensitivity to fever do not represent a major cause of NORSE and FIRES, as suggested by one study in children that did not find mutations in the SCN1A (the gene mostly associated with Dravet syndrome), PCDH19 or POLG1 (Alpers syndrome) genes. However, studies found genetic polymorphisms in the SCN2A gene (another gene involved in Dravet syndrome) and in the IL1RN gene (a gene coding for an immunomodulatory protein) in children with FIRES. These data are still very limited and further studies are required to fully explore the hypothesis of a genetic predisposition.", "affected": "NORSE and FIRES can occur at any age but preferentially affect young adults and school-age children, with a second peak occurring around age 65. In adults, females are more likely to be affected than males, but probably not in children. The idiopathic hemiconvulsion-hemiplegia and epilepsy syndrome (IHHE) is a related syndrome seen only in infants as discussed above.", "related-disorders": "Several epilepsy syndromes in infants and children share many similarities with NORSE and FIRES, and many are likely different terms for the same condition. All these syndromes have in common an acute onset, a prolonged course of refractory SE, and inflammatory features in the CSF. These related disorders include:", "diagnosis": "The diagnosis of NORSE or FIRES, as a clinical presentation, is usually made on clinical grounds in patients who develop refractory SE once obvious causes of SE have been excluded. The diagnosis of cryptogenic NORSE or FIRES can only be made once uncommon causes of SE have been carefully excluded (see Clinical Testing and Work-Up section below), which typically takes several weeks to complete.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:217569", "name_zh": "肥厚型心肌病", "Name": "Obstructive Hypertrophic Cardiomyopathy", "disease_name": "Obstructive Hypertrophic Cardiomyopathy", "synonyms": "idiopathic hypertrophic subaortic stenosis", "disease-overview": "", "symptoms": "The type and severity of symptoms of oHCM may be very different from person to person, even within the same family. Many people with oHCM have few or no symptoms. The first symptoms of oHCM can appear at any age, but most often start in early adulthood. Symptoms are often mild but may get worse over time. Sometimes symptoms get worse very quickly, while in others, symptoms progress slowly or not at all. The age at which symptoms start to get worse can also vary from person to person.", "causes": "Based on current knowledge, oHCM can be caused by changes (pathogenic variants) in 11 different genes. Variants in any one of these genes disrupt the formation of the cells of the heart wall, impacting the way the heart muscle contracts. This leads to thickening of the wall between the two ventricles, eventually blocking blood flow out of the heart. About 80% of people with HCM have a disease-causing variant in the MYBPC3 or MYH7 gene.", "affected": "Hypertrophic cardiomyopathy (HCM) affects between 1/200 to 1/500 people. It has been diagnosed equally in males and females and in all ethnic and racial groups. It has been estimated that there are at least 750,000 people in the United States with HCM and about 15-20 million people with HCM worldwide. Because people with HCM often do not have obvious symptoms, it is thought that only 10% of people with HCM get diagnosed. In a large study using a national database of private insurance claims, the authors found that the prevalence of oHCM was 1.65 per 10,000 individuals in 2016 and remained fairly stable over the 3-year time period.", "related-disorders": "Other types of cardiomyopathies include the following:", "diagnosis": "oHCM is diagnosed based on the symptoms, clinical examination, a detailed family history, laboratory testing and imaging of the heart. Because the symptoms of hypertrophic cardiomyopathy look the same as the symptoms of other more common conditions such as high blood pressure, anxiety or asthma, these more common conditions need to be excluded before a diagnosis of hypertrophic cardiomyopathy can be made. The most useful tests for diagnosing oHCM are a special ultrasound of the heart known as an echocardiogram and a special type of MRI called cardiac magnetic resonance (CMR). Both echocardiogram and CMR look at the heart structure and function.", "therapies": "There is currently no cure for oHCM. The treatment is based on managing the symptoms. For mild symptoms, initial treatment may include medications that slow down and reduce the force of heart contractions. Other medications can be used to reduce blood pressure and regulate the heartbeat. However, these medications have not been adequately proven in clinical trials designed specifically for oHCM patients. Lifestyle and diet changes may also be part of the treatment. Avoiding intense isometric exertion, dehydration and excessive alcohol intake is recommended. Based on current knowledge, aerobic exercise is not restricted, but in fact recommended. Maintaining an ideal body weight is helpful. Many patients also have sleep apnea and testing for and treating that condition is important."}
{"OrphaCode": "ORPHA:1000", "name_zh": "眼白化病伴发迟发性感觉神经性聋", "Name": "Ocular Albinism with Late Onset Sensorineural Deafness", "disease_name": "Ocular Albinism with Late Onset Sensorineural Deafness", "synonyms": "OASD", "disease-overview": "Ocular albinism with late onset sensorineural deafness (OASD) is a rare inherited subtype of ocular albinism.", "symptoms": "The main symptoms include ocular albinism and deafness. Albinism refers to lack of melanin synthesis, or the pigment of skin, eyes and hair.", "causes": "There is no consensus regarding the true cause of OASD, but it is likely closely tied to the cause of ocular albinism type 1 (OA1).", "affected": "It is estimated that fewer than 1,000 people in the U.S. have OASD. Since the disorder follows an X-linked recessive inheritance pattern, more males are affected than females.", "related-disorders": "OASD belongs to a group of interconnected syndromes associated with OA1. These syndromes result from the deletion or duplication of a set of genes located close together. Many people with contiguous gene syndromes, characterized by gene variants in the Xp22.3 region, have been reported to have albinism.", "diagnosis": "Diagnosis is often suspected early in life based on lack of color (hypopigmentation) of the eyes, vision abnormalities and family history. Diagnostic testing typically involves working with a geneticist and doing adequate molecular testing to identify the variants in the GPR143 gene that are known to be associated with OASD. Molecular genetic tests can be used to analyze entire gene coding sequences and areas of gene deletion or duplication. Family history information can be useful to look for an X-linked inheritance pattern.", "therapies": "There are no definitive treatments for OASD, but several actions can be taken to lessen symptoms."}
{"OrphaCode": "ORPHA:284804", "name_zh": "眼白化病", "Name": "Ocular Albinism", "disease_name": "Ocular Albinism", "synonyms": "Nettleship-Falls ocular albinism", "disease-overview": "Ocular albinism type I (OA1), or X-linked ocular albinism, is the most common form of ocular albinism. Ocular albinism is a genetic disorder characterized by vision abnormalities in affected males. Vision deficits are present at birth and do not become more severe over time. Affected individuals have normal skin and hair pigmentation. Ocular albinism is inherited as an X-linked recessive genetic condition and caused by mutations in the G protein-coupled receptor 143 (GPR143) gene.", "symptoms": "Ocular albinism primarily affects pigment production in the eyes. Several vision problems can occur with ocular albinism including an involuntary movement of eyes back and forth (nystagmus), reduced iris pigment in some individuals, reduced retinal pigment, lack of development of the fovea (foveal hypoplasia) leading to blurred vision, and abnormal connections in the nerves from the retina to the brain that prevents the eyes from tracking together and reduces depth perception. Crossed eyes (strabismus) and sensitivity to light (photophobia) are also common. Typically individuals have normal hair and skin pigmentation.", "causes": "Mutations in the G protein-coupled receptor 143 (GPR143) gene on the X chromosome encoding a protein of 404 amino acids and are associated with ocular albinism type I (OA1). This protein is expressed in the retinal pigment epithelium (RPE) of the eye and melanocytes. GPR143 interacts with the premelanosomal protein MART1 which also plays a role in the regulation of melanin pigment formation. MART1 may act as a chaperone protein for GPR143. Mutations in GPR143 result in enlarged aberrant premelanosomes with aberrant fibril formation. There is also a decrease in melanin pigment synthesis in the premelanosome. The premelanosome is the intracellular location of melanin pigment production in the pigment cell. Aberrations of melanosomes in the skin are also present, but do not seem to reduce the amount of skin and hair pigment. GPR143 is also thought to be a receptor for L-DOPA (L-3,4-dihydroxyphenylalanine), an intermediate metabolite in the melanin pigment pathway, and may be involved in intracellular signaling in the retina.", "affected": "The prevalence of ocular albinism has been reported to be one male in 20,000 births.", "related-disorders": "Symptoms of the following disorders can be similar to those of ocular albinism. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Oculocutaneous albinism is a group of rare inherited disorders characterized by a reduced amount or complete lack of color (pigmentation) in the skin, hair, and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment. Abnormal or insufficient melanin pigment results in vision abnormalities and light skin that is very susceptible to damage from the sun. In some cases, individuals with oculocutaneous albinism can have near normal skin and hair pigmentation as seen in ocular albinism, making it appear to be X-linked ocular albinism, but these individuals are usually born with reduced skin and hair pigmentation and accumulate pigment with time unlike individuals with ocular albinism who are born with normal skin and hair pigmentation. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition. (For more information on this disorder, choose oculocutaneous albinism as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1125", "name_zh": "眼运动失用症Cogan型", "Name": "Ocular motor apraxia, Cogan type", "disease_name": "Ocular Motor Apraxia, Cogan Type", "synonyms": "COMA", "disease-overview": "", "symptoms": "Cogan type ocular motor apraxia is a rare congenital disorder characterized by a defect in side-to-side (horizontal) eye movements.  The eyes do not move properly in response to stimuli or voluntarily.  When affected infants are asked to fixate on an object to the side, their eyes will lag and then move in the opposite direction.  In order to compensate for this, the infants will sharply jerk their heads past the desired object in an effort to bring the eyes to a position where they can view the object.  When the eyes fixate on the object, the head will return to its normal position.  These jerking head movements are the most noticeable sign of Cogan type ocular motor apraxia and are usually recognized three to four months after birth.  Before these head jerkings occur, an infant’s inability to fixate on an object may sometimes be mistaken for blindness.", "causes": "Cogan type ocular motor apraxia is a genetic condition for which the inheritance pattern has not been well established.  It is not clear if it is inherited as an autosomal recessive genetic trait or an autosomal dominant genetic trait.", "affected": "Cogan type ocular motor apraxia affects males approximately twice as often as females.  Symptoms are present at birth (congenital).  The jerking-head movements associated with this disorder usually appear by the third or fourth month of life.  Approximately 50 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Cogan type ocular motor apraxia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Balint’s syndrome is a rare eye disorder characterized by the inability to voluntarily look at objects to the side (peripherally).  An affected individual may also have trouble grasping objects due to difficulties with hand-to-eye coordination and may be unable to follow objects across the eyes’ field of vision.  Although the exact cause of Balint’s syndrome is not known, it is thought that symptoms may be caused by improper development of part of the brain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:141132", "name_zh": "眼-耳-脊柱谱系异常", "Name": "Oculo-auriculo-vertebral spectrum", "disease_name": "Oculo-Auriculo-Vertebral Spectrum", "synonyms": "Facio-Auriculo-Vertebral Spectrum", "disease-overview": "Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.", "symptoms": "Oculo-auriculo-vertebral spectrum represents three rare disorders that are apparent at birth (congenital), and are characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case.  However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes, and/or bones of the spinal column (vertebrae).  In about 60 percent of the cases, such malformations involve one side of the body (unilateral).  Yet, in approximately 10 to 33 percent of affected individuals, both sides of the body may be involved (bilateral), with one side usually more affected than the other (asymmetry).  In many such cases, the right side is more severely affected than the left.", "causes": "In most cases, oculo-auriculo-vertebral spectrum occurs randomly, with no apparent cause (sporadic).  However, in some cases, positive family histories have been identified that have suggested autosomal dominant, or, less frequently, autosomal recessive inheritance.  In addition, many researchers suggest that OAVS may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).", "affected": "OAVS affects males more frequently than females by an approximate 3:2 ratio.  There is some disagreement in the medical literature concerning the disorder’s rate of occurrence.  Reported estimates range from one in 3000 to 5000 live births up to one in 25,000-40,000 live births.  Most of the physical characteristics associated with OAVS are apparent at birth (congenital), with the possible exception of facial asymmetry, which may not become apparent until approximately four years of age in many cases.", "related-disorders": "Symptoms of the following disorders may be similar to those of oculo-auriculo-vertebral spectrum.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Treacher Collins syndrome is an extremely rare genetic disorder characterized by distinctive abnormalities of the craniofacial area due to underdevelopment (hypoplasia) of certain portions of the skull (e.g., supraorbital rims and zygomatic arches) and lower jaw.  Although the symptoms and physical characteristics associated with Treacher Collins syndrome may vary greatly in severity from case to case, craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes.  Such craniofacial malformations may include underdeveloped (hypoplastic) or absent cheekbones; an incompletely developed, abnormally small lower jaw (mandibular hypoplasia and micrognathia); an unusually large mouth (macrostomia); malformations of the roof of the mouth (palate); and/or dental abnormalities such as misaligned teeth (malocclusion).  Affected infants may also have underdeveloped (hypoplastic) and/or malformed (microtic) outer ears with blind ending or absent external ear canals (atresia), resulting in hearing impairment (conductive hearing loss).  In addition, infants with the disorder may have downwardly slanting eyelid folds (palpebral fissues), partial or total absence of tissue (colobomas) from the outer third of the lower eyelids, and/or additional eye abnormalities.  In approximately 40 percent of cases, Treacher Collins syndrome has autosomal dominant inheritance.  However, in about 60 percent of cases, a positive family history is not found.  Research suggests that such cases represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).  (For more information on this disorder, choose Treacher Collins as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2710", "name_zh": "眼齿指发育不良", "Name": "Oculo-Dento-Digital Dysplasia", "disease_name": "Oculo-Dento-Digital Dysplasia", "synonyms": "Dento-Oculo-Osseous Dysplasia", "disease-overview": "Oculo-dento-digital dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). There also have been a few instances in which it is thought to have been inherited as an autosomal recessive trait. Major symptoms of cculo-dento-digital dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly.", "symptoms": "Oculo-dento-digital dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye (cornea),  a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly.", "causes": "Oculo-dento-digital dysplasia may be inherited as an autosomal dominant trait.  In these cases, it occurs as a result of a change (mutation) in a gene on the long arm of chromosome 6 (6q21-q23.2).  An autosomal recessive form is also thought to exist, but the associated gene has not been identified.", "affected": "Oculo-dento-digital dysplasia is a very rare disorder that appears to affect males and females in equal numbers.  There have been approximately eighty-five cases reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of oculo-dento-digital dysplasia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Amelogenesis imperfecta is a rare genetic disorder characterized by a developmental defect of the tooth enamel.  Secondary effects of this disorder may be early tooth loss, heightened susceptibility to disease of the tissues surrounding the teeth and increased sensitivity of the teeth to hot and cold. There are multiple types of this disorder and it is inherited through various modes of transmission.  (For more information on this disorder, choose Amelogenesis Imperfecta as your search term in the Rare Disease Database.)", "therapies": "Patients with oculo-dento-digital dysplasia may benefit from surgery to repair the webbed fingers and bone malformations."}
{"OrphaCode": "ORPHA:2719", "name_zh": "眼脑色素沉着不足综合征，Cross型", "Name": "Oculocerebral Syndrome with Hypopigmentation", "disease_name": "Oculocerebral Syndrome with Hypopigmentation", "synonyms": "oculocerebral syndrome hypopigmentation syndrome, Cross type", "disease-overview": "Oculocerebral syndrome with hypopigmentation is an extremely rare genetic disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral).", "symptoms": "Oculocerebral syndrome with hypopigmentation, also known as Cross syndrome, is an extremely rare genetic disorder that may be apparent at birth (congenital) or during early infancy.", "causes": "The gene involved in this syndrome is not yet known, but one report suggested that the gene associated with this condition is located on chromosome 3 at 3q27.1q29.", "affected": "Oculocerebral syndrome with hypopigmentation is an extremely rare disorder that affects males and females in equal numbers. It was first reported in 1967 and, as of 2024, fewer than 20 cases have been described, without an ethnic preference. Most reported cases occurred within families.", "related-disorders": "Symptoms of the following disorders can be similar to those of oculocerebral syndrome with hypopigmentation. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chediak-Higashi syndrome is a rare inherited disorder characterized by the lack of normal color of the skin and eyes (oculocutaneous albinism), visual difficulties, and/or abnormalities affecting certain white blood cells (leukocytes) that may result in immune system deficiencies. The hair is typically blond or light brown with a silvery tint. Affected infants may also have abnormal sensitivity to light (photosensitivity), rapid involuntary eye movements (nystagmus) and/or an impaired ability to coordinate voluntary movements (ataxia). Chediak-Higashi syndrome is inherited in an autosomal recessive pattern. (For more information on this disorder, choose Chediak Higashi as your search term in the Rare Disease Database.)", "therapies": "There is no cure or specific treatment. The treatment is symptomatic and supportive, and it is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, dentists, physicians who specialize in disorders of the eyes (ophthalmologists), physicians who specialize in skin disorders (dermatologists), and other health care professionals may need to plan an affected child’s treatment systematically and comprehensively."}
{"OrphaCode": "ORPHA:1647", "name_zh": "眼-大脑-皮肤综合征", "Name": "Oculocerebrocutaneous syndrome", "disease_name": "Oculocerebrocutaneous Syndrome", "synonyms": "Delleman-Oorthuys syndrome", "disease-overview": "Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized primarily by eye (ocular), brain (e.g., cerebral) and skin (cutaneous) malformations. For example, many affected infants have semisolid or fluid-filled swellings (cysts) within the cavities of the skull (orbits) that accommodate the eyeballs and associated structures. In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos). Brain abnormalities associated with OCC syndrome may include enlargement of the ventricular system, multiple fluid-filled spaces within and malformations of the outer region of the cerebral hemispheres (cerebral cortex), absence of the band of nerve fibers that joins the brain’s hemispheres (agenesis of the corpus callosum) and a typical malformation of mid- and hindbrain. Affected infants and children often have intellectual disability and episodes of uncontrolled electrical activity in the brain (seizures). In addition, OCC syndrome is characterized by underdevelopment or absence of skin in certain localized regions (focal dermal hypoplasia or aplasia), and most have protruding, flesh-colored or brownish outgrowths of skin (cutaneous tags) within certain facial areas, including around the eyelids, on the cheeks, or near the ears. In all individuals with OCC syndrome known so far, the disorder occurs sporadically (with no family history of similar disorders).", "symptoms": "OCC syndrome is characterized by distinctive eye (ocular), brain (e.g., cerebral) and skin (cutaneous) malformations. Most infants with the disorder have fluid-filled or semisolid swellings (cysts) within the cavities of the skull (orbits) that accommodate the eyeballs. The eye on the affected side or sides is characteristically small (microphthalmos). In some patients, the orbital cysts may contain benign (noncancerous), tumor-like nodules (hamartomas) consisting of ocular tissue. Affected infants may have additional ocular abnormalities, such as absence or defects (notches) of tissue (colobomas) of the upper eyelids, the lower eyelids, or the colored part of the eye(s) (irises) or abnormal persistence of the embryonic blood vessel (the hyaloid artery system) that supplies certain regions of the eyes (persistent fetal vasculature, the hyaloid artery usually disappears during the ninth month of fetal development.)", "causes": "In all reported individuals with OCC syndrome, there is no family history of the disorder. Therefore, geneticists suggest that OCC syndrome is caused by a genetic change (variant or mutation) that appears to be present in some of the cells of the body only (somatic mosaicism) and is thought to be the consequence of a randomly occurring, new event in one of the cells present at a very early embryonic stage.", "affected": "OCC syndrome has been reported more frequently in males than in females; however, the prevalence is unknown. Since the disorder was originally described in 1981 (JW Delleman & JWE Oorthuys), approximately 40 patients have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders may be similar to those of oculocerebrocutaneous syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Microphthalmia with linear skin defects syndrome is a rare genetic disorder that is caused by an alteration on the X chromosome (most often a missing piece in chromosome region Xp22.2 that includes the HCCS gene) which affects only females. The disorder is characterized by eye (ocular) defects, including abnormally small size of the eyes (microphthalmia); and clouding of the front, usually transparent surface of the eyes (corneal opacities). These ocular defects typically occur in association with underdevelopment or absence of skin in streak-like (linear) patterns, primarily affecting the head and neck region and healing into hyperpigmented areas with age. Some affected females may have additional abnormalities, including congenital heart defects, a small head (microcephaly), absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the septum pellucidum), seizures, or intellectual disability.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:55", "name_zh": "眼皮肤白化病", "Name": "Oculocutaneous albinism", "disease_name": "Oculocutaneous Albinism", "synonyms": "brown oculocutaneous albinism", "disease-overview": "Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results in abnormal development of the eyes, resulting in vision abnormalities, and light skin that is very susceptible to damage from the sun including skin cancer. Visual changes include nystagmus (involuntary side to side eye movement), strabismus and photophobia (sensitivity to light). Other changes include foveal hypoplasia (which affects visual acuity) and mis-routing of the optic nerves. All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of OCA) and mutation involved.", "symptoms": "Several vision problems can occur with this condition including an involuntary movement of eyes back and forth (nystagmus), reduced iris pigment (iris transillumination), reduced retinal pigment, lack of development of the macula (macular hypoplasia) resulting in abnormal foveal development (the area of the eye responsible for visual acuity), poor visual acuity, and abnormal connections in the nerves from the retina to the brain that prevents the eyes from tracking together (strabismus) and reduces depth perception. Visual acuity in individuals can range from 20/60 to 20/400, usually depending on the amount of pigment present in the eye. Vision acuity is usually better in those individuals with greater amounts of pigment.", "causes": "Melanin pigment is the major pigment responsible for coloration of skin, hair and eyes. There are two types of melanin pigment, brown-black eumelanin and yellow-red pheomelanin. All melanin pigment is a combination of these two types of pigment. Melanin pigment is produced in specialized cells called melanocytes. Mutations in genes responsible for the proteins that are necessary for the melanocyte to make melanin pigment result in a reduction or absence of melanin pigment in the skin, hair and eyes of the affected individual and this condition is termed oculocutaneous albinism (OCA). OCA is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits an abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.", "affected": "The frequency of OCA1 is approximately 1/40,000 in the world population. Most of the individuals identified with OCA1 have OCA type 1A. The frequency of OCA type 1B is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of oculocutaneous albinism. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hermansky-Pudlak syndrome is a rare, hereditary disorder that consists of three characteristics: reduced skin, hair and eye pigmentation (oculocutaneous albinism, with associated vision problems), blood platelet dysfunction leading to prolonged bleeding, and abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body. Several different genes have been associated with Hermansky-Pudlak syndrome. (For more information on this disorder, choose Hermansky as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:270", "name_zh": "眼咽肌营养不良", "Name": "Oculopharyngeal muscular dystrophy", "disease_name": "Oculopharyngeal Muscular Dystrophy", "synonyms": "autosomal dominant OPMD", "disease-overview": "", "symptoms": "Although the defective gene that causes OPMD is present at birth, the symptoms usually do not appear until adulthood sometime between 40 and 60 years of age. OPMD is characterized by progressive weakness of certain muscles around the eyes, in the throat, and less commonly in the pelvic and shoulder areas including the muscles of the upper legs and arms.", "causes": "OPMD may be inherited as an autosomal dominant or recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "OPMD is a rare disorder that affects males and females in equal numbers. The disorder has been reported in approximately 29 countries. The largest grouping (cluster) of cases was reported in French descendents in Quebec, Canada (1 in 1000). Clusters have also been reported in the Bukhara Jews of Israel and a Hispanic population of New Mexico. One published report estimated the prevalence of OPMD in France at 1 in 100,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of OPMD. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of OPMD is suspected based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings. A diagnosis is confirmed through commercially available blood tests that can detect the specific genetic abnormality associated with OPMD (i.e., mutation of the PABPN1 gene).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:276432", "name_zh": "Ogden综合征", "Name": "Ogden syndrome", "disease_name": "Ogden Syndrome", "synonyms": "NAA10-related neurodevelopmental syndrome", "disease-overview": "", "symptoms": "Individuals with Ogden syndrome present at different ages and with a wide spectrum of symptoms and severity. Males with Ogden syndrome tend to be affected more severely and may have life-threatening symptoms in infancy. Females with one disease-causing variant in the NAA10 gene can vary from having no symptoms to having the same features as an affected male.", "causes": "Ogden syndrome is caused by disease-causing variants in the NAA10 gene. This gene encodes for the enzyme N-terminal acetyltransferase 10. This enzyme along with another protein known as NAA15, makes up the N-terminal acetyltransferase A (NatA) complex. The NatA complex aids in the attachment of a chemical group called acetyl-CoA to the first section of proteins. This attachment process is known as acetylation. Acetylation regulates protein stability, interaction, formation and activity. Certain variants in the NAA10 gene change the structure and function of the protein. This change can reduce stability and cause the symptoms of Ogden syndrome. Therefore, the severity of the disease is dependent on the remaining activity of the enzyme.", "affected": "Ogden Syndrome is a rare genetic disorder that is usually fully expressed in males. Carrier females may have a wide range of symptoms, from asymptomatic to having the same symptoms as affected males. As of 2024, the disorder has been reported in just over 100 individuals. The overall worldwide prevalence is currently unknown. Data is not available to estimate ethnic-based prevalence.", "related-disorders": "Symptoms of the following disorders can be similar to those of Ogden Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Timothy syndrome (TS), also referred to as long QT syndrome type 8 (LQT8), is a rare multisystem genetic disorder affecting the heart and several other organs, including the skeleton, metabolic system and brain. The most relevant heart manifestation of TS is the prolongation of the time required by the heart to complete a cycle of its electrical activity, known as the QT interval. TS belongs to a group of diseases collectively classified as long QT syndrome or LQTS. The QT interval prolongation predisposes patients to a high risk of developing cardiac arrhythmias and experiencing cardiac arrest from a very young age.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2732", "name_zh": "橄榄体脑桥小脑萎缩-耳聋综合征", "Name": "Olivopontocerebellar Atrophy", "disease_name": "Olivopontocerebellar Atrophy", "synonyms": "", "disease-overview": "The term olivopontocerebellar atrophy (OPCA) has historically been used to describe a group of disorders that affect the central nervous system and are termed neurodegenerative diseases because they result in a progressive deterioration of nerve cells in certain parts of the brain. These conditions are characterized by progressive balance problems (disequilibrium), progressive impairment of the ability to coordinate voluntary movements (cerebellar ataxia), and difficulty speaking or slurred speech (dysarthria).", "symptoms": "Among the different classifications, there is wide variation in severity and age of onset. The symptoms of OPCA differ from person to person. Most patients experience difficulty with balance and coordination of the legs and arms (ataxia) and slurred speech (dysarthria). Other symptoms may include muscle spasms or weakness and stiffness of the muscles; numbness or tingling of the hands or feet; shaking (tremor) of the hand or arm; reduction or slowness of movements; loss of thinking and/or memory skills; difficulty controlling the bladder or bowels; and feeling faint when standing up. Some patients also have fatigue and/or trouble with sleep. Generally, symptoms of OPCA begin in mid-adult life and progress slowly over the course of many years.", "causes": "Most types of inherited OPCA are spinocerebellar ataxias that follow autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "OPCA is a group of rare disorders that affects males and females in equal numbers. Because of confusion regarding the naming and classification of these disorders, determining their frequency in the general population is difficult. The frequency of all forms of OPCA has been estimated to be 3-5/100,000 in the United States.", "related-disorders": "The following disorders overlap with OPCA. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Spinocerebellar ataxia (SCA) is a group of neurodegenerative disorders affecting the brainstem and spinal cord. Most follow autosomal dominant inheritance and are usually identified as SCA1 through SCA25. The symptoms of SCA vary between types and among individuals affected with the same type. (For more information on these disorders, choose ataxia, hereditary, autosomal dominant as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:296", "name_zh": "内生软骨瘤", "Name": "Ollier disease", "disease_name": "Ollier Disease", "synonyms": "dyschondroplasia", "disease-overview": "", "symptoms": "Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp.", "causes": "The underlying cause of Ollier disease is not known. Changes (mutations) in IDH1, IDH2 and PTHR1 genes have been linked to Ollier disease and Maffucci syndrome. The mutations are due to somatic mosaicism, which means that the mutation is present only in a percentage of the cells, not all the cells in the body. In Ollier disease, the mutation is present only in the enchondromas.", "affected": "The estimated prevalence of the disease is 1/100,000. Ollier disease is a very rare disorder that affects males and females in equal numbers. Symptoms are most often observed in children but can occur in adolescents and adults. This disorder can affect all races.", "related-disorders": "Symptoms of the following disorders can be similar to those of Ollier disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Metachondromatosis presents with enchondromas and osteochondroma (exostoses). The enchondromas most commonly involve the long bones of the legs and the hip. The osteochondroma lesions usually appear on the hands and feet. Most of the time, these lesions do not cause bone deformities. There are less than 30 reported cases currently.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1183", "name_zh": "眼球阵挛-肌阵挛综合征", "Name": "Opsoclonus-myoclonus syndrome", "disease_name": "Opsoclonus-Myoclonus-Ataxia Syndrome", "synonyms": "dancing eyes-dancing feet", "disease-overview": "Opsoclonus-myoclonus-ataxia syndrome (OMAS) is an inflammatory neurological disorder, often caused by the immune system reacting to a cancerous tumor (paraneoplastic etiology). It is characterized by associated ocular, motor, behavioral, sleep and language disturbances. The onset is usually abrupt, often severe, and it can become chronic.", "symptoms": "The component features of OMAS include repeated, random and rapid eye movements in both horizontal, vertical and diagonal directions (opsoclonus); unsteady gait or loss of ability to stand and walk (ataxia); brief, repeated, shock-like spasms of several muscles within the arms and legs (myoclonus), or tremor interfering with hand use. Behavioral and sleep disturbances, including extreme irritability, inconsolable crying, reduced and fragmented sleep (insomnia) and rage attacks are common. Difficulty articulating speech (dysarthria), sometimes with complete loss of speech and language may occur. Additional symptoms such as decreased muscle tone (hypotonia) and vomiting are common.", "causes": "The most common cause of OMS in young children is paraneoplastic. A small, often hidden tumor presumably provokes the immune system into attacking the nervous system, which may also control the tumor or even cause it to regress. Tumors are not in the brain, but are in other areas of the body, usually in chest or abdomen. In 50-80% of affected young children, a tumor of embryonic nerve cells (neuroblastoma or ganglioneuroblastoma) is responsible for the symptoms associated with OMS. In other affected individuals, the disorder has been designated ‘idiopathic’ or attributed to various mostly viral infections. However, the high rate of spontaneous tumor regression means that the tumor may be gone before it is looked for. In older children or teens, viral infections are the most frequent apparent cause of OMAS. In adults, paraneoplastic etiology is more common, mostly due to lung or breast cancers. In contrast to paraneoplastic OMAS in infants and young children, whose tumors are biologically inactive and often benign, the tumors in adults are commonly malignant, often disseminated.", "affected": "OMAS is a rare disorder with a prevalence of 1 per million individuals worldwide. It usually affects infants and young children, although it is also known to affect adults. The peak age in children is about 18 months, with very few diagnosed before 1 year, and a few children diagnosed between 5–6 years. Occurrence of opsoclonus in infants under 6 months old is quite uncommon, and opsoclonus in that age group, when isolated, is usually from another cause. OMAS occurs slightly more often in girls than boys. It occurs in about 3% of all children with neuroblastomas.", "related-disorders": "Symptoms of the following disorders can be similar to those of OMAS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "About 95% of children with OMAS are initially diagnosed as having acute cerebellar ataxia, a much more common disorder. In children with OMAS, the ataxia may appear before the eye findings. This diagnosis may cause delay in recognition and treatment of OMAS. Once opsoclonus is present, however, the diagnosis cannot be acute cerebellar ataxia. Also, children with only occasional or subtle opsoclonus or myoclonus are harder to recognize and may carry the wrong diagnosis for years.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3157", "name_zh": "透明隔-视神经发育不良疾病谱", "Name": "Septo-optic dysplasia spectrum", "disease_name": "Optic Nerve Hypoplasia", "synonyms": "DeMorsier syndrome", "disease-overview": "", "symptoms": "ONH is present at birth, but many symptoms may not be apparent until childhood, or even adolescence. Most infants with ONH have involuntary, rapid eye movements (nystagmus) and/or mild to severe visual impairment of one or both eyes. Vision often improves modestly in early childhood even though there is no growth of the optic nerves after birth. Due to underdevelopment of the optic nerves, the optic disk is smaller than normal size in one or both eyes when viewed by a doctor using an ophthalmoscope. Also referred to as the blind spot, the optic disk is the structure in which nerve fibers from the retina combine to form the optic nerve before leaving the back of the eye. The optic nerves meet to form the optic chiasm and optic tracts at the base of the hypothalamus.", "causes": "The cause of ONH is not known. In most cases, the disorder appears to occur randomly for unknown reasons (sporadic). Rare families have been reported with more than one affected child, suggesting the possibility of autosomal recessive inheritance. A few cases of SOD have been reported to result from a mutation HESX1, SOX2, SOX3, OTX2 or PROKR2 genes. The diagnosis of SOD has been loosely defined in these cases, with the majority having normal optic nerves or ocular malformations other than ONH. The vast majority of individuals with ONH do not have mutations in any of these genes, suggesting that other genes and/or environmental factors are involved in the development of this condition.", "affected": "ONH is thought to affect males and females in equal numbers. The prevalence is estimated to be 1 in 10,000 children.", "related-disorders": "Symptoms of the following disorders can be similar to those of ONH. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Holoprosencephaly (HPE) is the failure of the prosencephalon (a region of the brain in the fetus that develops into parts of the adult brain), or forebrain, to develop normally. Instead of the normal completely distinct left and right halves of the forebrain, there is an abnormal continuity between the two sides. Intellectual disability is associated and seizures are often present. Children with holoprosencephaly may also have defects in the development of the middle of the face such as closely set eyes (hypotelorism), tooth abnormalities (single central incisor), cleft lip/palate, and an abnormally small head (microcephaly). (For more information on this condition, choose holoprosencephaly as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2712", "name_zh": "眼面心牙综合征", "Name": "Oculofaciocardiodental syndrome", "disease_name": "Oral-Facial-Digital Syndrome", "synonyms": "OFD syndrome", "disease-overview": "Oral-facial-digital syndrome (OFDS) is a group of conditions that affect the development of their oral cavity (mouth, tongue, teeth, and jaw), face (head, eyes and nose) and finger and toes (digits).", "symptoms": "The various types of OFDS present with some combination of signs and symptoms from the list below.", "causes": "Chromosomes, which are present in the nucleus of human cells, carry the genetic information (DNA) for each individual. The genetic information is carried in genes. Harmful gene changes (mutations) can cause the gene to not properly. This can lead to genetic conditions.", "affected": "All types of oral-facial-digital syndrome are rare, with type I being the least rare. The incidence of OFDS type I is thought to be between 1 per 50,000 births and 1 per 250,000 births, and type II is thought to occur 1 in 300,000 births. Some types of OFDS have only been reported in a few people/families.", "related-disorders": "Symptoms of the following conditions can be similar to those of OFSD syndrome. Comparisons may be useful to help make a diagnosis:", "diagnosis": "Diagnosis of OFD syndromes with a known genetic cause (OFDS type I, III, IV, V, VI, IX, XIV) can be confirmed by genetic testing. However, diagnosis is generally made based on the clinical symptoms presented.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1302", "name_zh": "隐源性机化性肺炎", "Name": "Organizing Pneumonia", "disease_name": "Organizing Pneumonia", "synonyms": "Epler's pneumonia", "disease-overview": "Organizing pneumonia (OP) is a rare inflammatory lung disorder characterized by clinical symptoms such as flu-like illness as well as cough and shortness of breath with exertional activities. Wheezing and hemoptysis (blood when coughing) may occur rarely. OP refers to organized swirls of inflammatory tissue filling the small spherical units of the lungs called alveoli as well as the alveolar ducts. Individuals with OP experience inflammation of the bronchioles and alveolar lung spherical units simultaneously, which distinguishes it from other similar inflammatory lung disorders. Though the term pneumonia is used, OP is not an infection. It is a different disease from obliterative bronchiolitis which refers to scarring and narrowing of the small airways.", "symptoms": "Symptoms of organizing pneumonia vary from person to person depending upon the specific type. For example, people with idiopathic OP have a flu-like illness, while people with OP associated with an underlying connective-tissue disorder have cough or shortness of breath. Some individuals with OP such as focal OP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly progressive OP.", "causes": "In most cases, the cause of OP is unknown and is referred to as idiopathic OP. Causes of OP include radiation therapy; exposure to certain fumes or chemicals, exposure to birds, post respiratory infections, after organ transplantation; and from more than 35 medications. Systemic disorders associated with OP include connective-tissue diseases, immunological disorders and inflammatory bowel disease. Organizing pneumonia has also been seen in association with lung abscess, lung cancer and lymphoma. Importantly, the OP lesion is seen as a co-existent pathologic finding in individuals with idiopathic pulmonary fibrosis (IPF) and in these situations, the primary pathologic disorder is the IPF, and the secondary process is OP.", "affected": "Organizing pneumonia affects males and females in equal numbers. It develops in individuals between 40-60 years old, but the disorder may affect individuals of any age. Organizing pneumonia is estimated to account for 5 to 10% of the chronic infiltrative lung disease in the United States. Organizing pneumonia has been reported throughout the world.", "related-disorders": "Symptoms of the following disorders can be similar to those of OP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of OP may be made based upon a clinical evaluation, a detailed patient history, identification of characteristic findings and specialized tests such as x-ray studies, especially a high-resolution chest computed tomography (HRCT), pulmonary function studies that includes a diffusing capacity test and often a lung biopsy for microscopic tissue analysis. Lung biopsy may infrequently be made via conventional transbronchial biopsy, transbronchial cryobiopsy which is newer and recovers a larger bit of tissue, or in selected cases, open lung biopsy. The HRCT scan often shows ground glass densities that are often triangular with the base of the triangle along the chest wall and the airways can often be seen in the ground-glass opacities. There are other less common findings such as inflammation along the air tubes or bronchi as well as single spots or nodules which are sometimes confused with malignancy, or the so-called ‘atoll’ spots which are areas of inflammation with central darker areas on HRCT.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:664", "name_zh": "鸟氨酸氨甲酰转移酶缺乏症", "Name": "Ornithine transcarbamylase deficiency", "disease_name": "Ornithine Transcarbamylase Deficiency", "synonyms": "hyperammonemia due to ornithine transcarbamylase deficiency", "disease-overview": "Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.", "symptoms": "The severity and age of onset of OTC deficiency vary from person to person, even within the same family. A severe form of the disorder affects some infants, typically males, shortly after birth (neonatal period). A milder form of the disorder affects some children later in infancy. Both males and females may develop symptoms of OTC deficiency during childhood. Most carrier females are healthy, but may be prone to severe headaches following protein intake.", "causes": "OTC deficiency is inherited as an X-linked genetic condition. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. However, approximately 20% of female carriers of the OTC gene are symptomatic. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease. Many males with OTC deficiency have an abnormal OTC gene as the result of a new mutation as opposed to a mutation inherited from the mother.", "affected": "OTC deficiency affects males more often than females and is fully expressed in males only. In males, symptoms typically begin during the first few days of life. Late-onset OTC deficiency can present later in childhood, but may also occur with onset at 40-50 years of age. Approximately 20% of carrier females have mild symptoms of the disorder and rarely may be severely affected in childhood. Some women who are carriers may not experience abnormally high levels of ammonia (hyperammonemia) until pregnancy or delivery.", "related-disorders": "Symptoms of the following disorders can be similar to those of ornithine transcarbamylase deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Common symptoms include lack of appetite, vomiting, drowsiness, seizures, and/or coma. The liver may be abnormally enlarged (hepatomegaly). In some individuals, life-threatening complications may result. In addition to OTC deficiency, the other urea cycle disorders are: carbamyl phosphate synthetase (CPS) deficiency; argininosuccinate synthetase deficiency (citrullinemia); argininosuccinate lyase (ASL) deficiency; arginase deficiency (argininemia); and N-acetylglutamate synthetase (NAGS) deficiency. (For more information on these disorders, choose the specific disorder name as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2319", "name_zh": "Juberg-Hayward综合征", "Name": "Juberg-Hayward syndrome", "disease_name": "Orocraniodigital Syndrome", "synonyms": "Cleft Lip/Palate with Abnormal Thumbs and Microcephaly", "disease-overview": "Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait.", "symptoms": "In many cases, orocraniodigital syndrome is characterized by cleft lip and/or palate, malformations of the mouth and/or lips that are noticeable at birth (congenital).  A cleft is an incomplete closure or groove on the inside, upper portion of the mouth (palate) or lips, or both.  Clefts may be barely noticeable (occult), or they may cause severe deformities leading to difficulties in speaking.", "causes": "Orocraniodigital syndrome is thought to be inherited as an autosomal recessive genetic trait.  However, autosomal dominant inheritance has yet to be ruled out.", "affected": "Approximately 10 cases of orocraniodigital syndrome have been reported in the medical literature.  The symptoms are usually obvious at birth.", "related-disorders": "Craniofrontonasal dysplasia is a rare inherited disorder characterized by widely spaced eyes (ocular hypertelorism), a missing or grooved tip of the nose, a broad nasal bridge, and/or malformation of the long flat vertical bone in the center of the chest (sternum).  Other abnormalities associated with this disorder may include an unusually wide mouth, webbed fingers and/or toes (syndactyly), split nails, a broad index finger, malformed (dysplastic) ears, and/or a broad high forehead.  Craniofrontonasal dysplasia is thought to be inherited as an autosomal dominant genetic trait.  (For more information on this disorder, choose Craniofrontonasal Dysplasia as your search term in the Rare Disease Database.)", "diagnosis": "", "therapies": "Orocraniodigital Syndrome is usually diagnosed shortly after birth (neonatal period) based upon a thorough clinical evaluation. Treatment of this disorder depends upon the specifics and severity of each individual case. Surgery may correct some of the craniofacial deformities associated with this disorder. For example, infants with cleft lip may require surgery; in some cases, additional surgery may be necessary when the child grows older. Cleft palate may also be surgically repaired. In some cases, hand and/or feet malformations associated with Orocraniodigital Syndrome may also be surgically corrected."}
{"OrphaCode": "ORPHA:230", "name_zh": "多巴胺β羟化酶缺乏", "Name": "Orthostatic Hypotension", "disease_name": "Orthostatic Hypotension", "synonyms": "postural hypotension", "disease-overview": "Orthostatic hypotension (OH) is a common condition characterized as a drop in blood pressure that occurs when a person stands up. OH can cause lightheadedness, dizziness or even causing a person to faint. Symptoms can also be subtle or absent. By definition, the drop in blood pressure must be greater than 20mm Hg of mercury in systolic BP and/or more than 10 mm of mercury in diastolic BP within 3 minutes upon standing from sitting or from a lying down face-up (supine) position. There are numerous, varied causes of OH. Neurogenic orthostatic hypotension (NOH) is a rare subtype caused by underlying neurologic disorders that affect a specific part of the autonomic nervous system. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. The treatment of OH depends upon several factors including the specific underlying cause.", "symptoms": "In some people, there may not be any noticeable symptoms despite a sudden and extreme drop in blood pressure upon rising from a reclining position. When symptoms occur they can vary greatly in expression from one individual to another. Common symptoms can include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), and a decline in cognitive functioning such as difficulty concentrating.", "causes": "Orthostatic hypotension may be a temporary condition or one that occurs consistently over time (chronic). Some sources break down the causes of OH into drugs, non-neurogenic, primary neurogenic and secondary neurogenic causes. In many cases, the underlying cause of OH remains unknown or unproven (idiopathic). Most idiopathic cases are believed to have an underlying neurogenic cause.", "affected": "OH is most common in the elderly, postpartum mothers, those who have been on bed rest, and teenagers, because of their large amounts of growth over a small time period. The prevalence increases with age. Institutionalized elderly have higher rates of OH than individuals who remain living in the community.", "related-disorders": "Symptoms of the following disorders can be similar to those of orthostatic hypotension. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Neurally mediated syncope is a general term for a group of conditions in which sudden change in the activity of the autonomic nervous system results in a fall in blood pressure. Neurally mediated syncope can lead to a temporary loss of consciousness (syncope). Individuals often experience nonspecific symptoms just before the onset of an episode (prodome). Such symptoms include pallor, yawning, sighing, nausea, and abdominal discomfort. This is usually followed by additional symptoms such as difficulty concentrating, cognitive impairment, and disturbances in hearing and or sight. This group of disorders includes vasovagal syncope, which there is a temporary impairment of blood circulation in the brain. It may occur during emotional stress, pain or mild shock. It may also result from prolonged bed rest, anemia, fever, fasting or mild heart disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:166100", "name_zh": "常染色体显性遗传性骨骺发育不良", "Name": "OSMED, Heterozygous", "disease_name": "OSMED, Heterozygous", "synonyms": "Oto-Spondylo-Megaepiphyseal Dysplasia, Autosomal Dominant", "disease-overview": "Heterozygous OSMED (oto-spondyl-megaepiphyseal dysplasia) is a rare genetic disorder characterized by skeletal malformations resulting in shortening of the upper limbs and thighs and short stature (rhizomelic dwarfism). Additional symptoms include distinctive facial features and delays in psychomotor development. After the initial period of growth deficiency, affected individuals experience gradual improvement in bone growth that leads to normal physical development by early childhood. Mental and motor development is also normal by early childhood. In some cases, affected individuals develop hearing loss. Heterozygous OSMED occurs because of disruptions or changes (mutations) to the COL11A2 gene.", "symptoms": "Heterozygous OSMED is characterized by skeletal malformations, distinct facial features and delayed psychomotor development. The specific symptoms affecting each child vary from case to case.", "causes": "Heterozygous OSMED is inherited as an autosomal dominant trait. Some cases occur randomly as the result of a spontaneous genetic change (i.e., new mutation). Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Heterozygous OSMED affects males and females in equal numbers. Both heterozygous and homozygous OSMED are extremely rare; approximately 30 cases have been reported in the medical literature. The exact incidence of this disorder is unknown. These disorders may be underdiagnosed making it difficult to determine their true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of heterozygous OSMED. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of heterozygous OSMED is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms, and a variety of specialized tests including x-rays. X-ray studies reveal characteristic skeletal malformations associated with heterozygous OSMED.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2764", "name_zh": "剥脱性骨软骨炎", "Name": "Osteochondritis dissecans", "disease_name": "Osteochondritis Dissecans", "synonyms": "osteochondrosis dissecans", "disease-overview": "", "symptoms": "Symptoms of osteochondritis dissecans are often vague and occur on and off especially in early stages of the condition but may increase with activities such as climbing stairs or throwing. As the condition progresses and more loose bits of cartilage and bone are found in the joint, there may be catching (partial inhibition of movement), locking, (total inhibition of movement) or a sense of giving way of the joint and there may also be the sensation of loose fragments within the joint. Additionally, there may be pain and swelling of the affected joint.", "causes": "Knee", "affected": "Osteochondritis dissecans is estimated to be 2-3x more common in males and more common in people aged 10-15 (average = 11.3-13.4 years). It affects fewer than 30 people per 100,000. It is rarer for patients older than 50 or younger than 10 to develop this condition. While OCD most commonly affects the knees, boys tend to have a higher risk of developing osteochondritis dissecans in the knees or elbows whereas girls have a higher risk of developing it in the ankles.", "related-disorders": "Osteochondritis dissecans may be part of an inherited condition such as genetic forms of short stature (dwarfism), bow-legging (tibia vara), Legg-Calvé-Perthes disease and Stickler’s syndrome.", "diagnosis": "As mentioned above, the physical exam findings in a person with osteochondritis dissecans are often not specific enough to confirm a diagnosis. Therefore, diagnosis is mostly reliant on imaging. Initial imaging of the joint is usually conducted with x-rays that may show transparency of subchondral bone, separation of bone fragments from underlying bone, evidenced by a dark (radiolucent) line, or loose osseous bodies. On further imaging such as an magnetic resonance imaging (MRI), physicians may be able to better characterize the state of the bone and cartilage, determine the degree of displacement of those pieces and monitor treatment progress or restoration of vascular supply. Studies have shown that MRI and arthroscopy (surgical visualization of the inside of the joint with a camera) are the best tools to determine disease diagnosis and progression.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:666", "name_zh": "成骨不全", "Name": "Osteogenesis imperfecta", "disease_name": "Osteogenesis Imperfecta", "synonyms": "brittle bone disease", "disease-overview": "Osteogenesis imperfecta (OI) is a rare disease affecting the connective tissue and is characterized by extremely fragile bones that break or fracture easily (brittle bones). The abnormal growth of bones is often referred to as a bone dysplasia. The specific symptoms and physical findings associated with OI vary greatly from person to person. The severity of OI also varies greatly, even among individuals in the same family. OI may be a mild disorder or result in severe complications.", "symptoms": "In all types of osteogenesis imperfecta, symptoms vary greatly from one individual to the next, even within the same type and the same family.  Some affected individuals may not experience any bone fractures or only a few. Other affected individuals experience multiple fractures. The age of onset of fractures varies from person to person. OI is a collagen related disease, and as such, the arrangement and integrity of teeth (dentition), lung function, heart (cardiac) function, muscle strength and ligament flexibility may be affected as well.", "causes": "Osteogenesis Imperfecta types I through IV are caused by mutations in the COL1A1 or COL1A2 genes. These genes carry instructions for the production of type 1 collagen. Collagen is the major protein of bone and connective tissue including the skin, tendons and sclera. The collagen protein is made up of three strands of proteins (two alpha 1 strands and one alpha 2 strand) that wind together in a helical fashion. These helical molecules then pack side by side to form characteristic bands that are linked together.  This structure gives collagen enormous tensile strength. When a mutation occurs, the collagen that the mutated gene produces may be faulty or insufficient.  In type I, the gene mutation results in a normal collagen protein, but only one-half of the normal amount is produced. Types II through IV are the result of mutations that affect the structure of the collagen protein. The precise location and type of mutation determines the severity of the resulting disease. The non-collagen types of OI (types V-XXI) are caused by mutations in genes that code for other proteins that play a pivotal role in the production of normal collagen.", "affected": "Osteogenesis imperfecta affects males and females in equal numbers.  The incidence of cases recognizable at birth is 1:10-20,000. More mild types that are only recognized later in life occur at about the same incidence. It is estimated that 20,000 to 50,000 individuals in the United States have OI.", "related-disorders": "Symptoms of the following disorders can be similar to those of osteogenesis imperfecta.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Achondroplasia is a skeletal dysplasia characterized by short stature, abnormally short arms and legs (short-limbed dwarfism), abnormal facial features and skeletal malformations. Characteristic facial features may include an abnormally large head (macrocephaly), unusual prominence of the forehead (frontal bossing), a low nasal bridge and underdevelopment of the middle portion of the face (midface hypoplasia).  Skeletal malformations may include unusually short fingers and toes (brachydactyly), an increased concave curvature of the lower spine (lordosis), legs that bow outward (genu varum) and/or narrowing (stenosis) of the spine.  Additional abnormalities may include limited extension of the elbows and hips, diminished muscle tone (hypotonia) and/or frequent infections of the middle ear (otitis media). Achondroplasia is caused by a mutation in the FGFR3 gene. Eighty percent of cases are sporadic, and it is inherited in an autosomal dominant manner. (For more information on this disorder, choose achondroplasia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:399158", "name_zh": "骨坏死", "Name": "Osteonecrosis", "disease_name": "Osteonecrosis", "synonyms": "aseptic necrosis", "disease-overview": "Osteonecrosis, also known as avascular necrosis (AVN), aseptic necrosis or ischemic bone necrosis, is a disease resulting in the death of bone cells. If the process involves the bones near a joint, it often leads to collapse of the joint surface and subsequent arthritis due to an irregular joint surface. The exact cause is unknown.", "symptoms": "In the early stages of osteonecrosis, patients may not have any symptoms. As the disease progresses, however, most patients experience joint pain – at first, only when putting weight on the affected joint, and then even when resting. Pain usually develops gradually and may be mild or severe. If osteonecrosis progresses and the bone and surrounding joint surface collapse, pain may develop or increase dramatically. Pain may be severe enough to cause joint stiffness by limiting the range of motion in the affected joint. Disabling osteoarthritis may develop in the affected joint. The period of time between the first symptoms and loss of joint function is different for each patient, ranging from several months to more than a year.", "causes": "Osteonecrosis has many different causes. Loss of blood supply to the bone may lead to bone cell death and can be caused by an injury (bone fracture or joint dislocation; called traumatic osteonecrosis). At times, there may be no history of injury (non-traumatic osteonecrosis); however, other risk factors are associated with the disease such as some medications (steroids, also known as corticosteroids), alcohol usage or blood coagulation disorders. Increased pressure within the bone also is associated with osteonecrosis. One theory is that the pressure within the bone causes the blood vessels to narrow, making it difficult for blood to circulate through the bone. Osteonecrosis can also be associated with other disorders. The exact reason osteonecrosis develops is not fully understood for some risk factors. Sometimes, osteonecrosis occurs in people with no risk factors (idiopathic). Some people have multiple risk factors. Osteonecrosis most likely develops because of the combination of factors, possibly including genetic, metabolic, self-imposed (alcohol, smoking), and other diseases that you may have and their treatment.", "affected": "Osteonecrosis usually affects people between 30 and 50 years of age; about 10,000 to 20,000 people develop osteonecrosis each year in the United States. Osteonecrosis affects both men and women and affects people of all ages. It is most common among people in their thirties and forties. Depending on a person’s risk factors and whether the underlying cause is trauma, it also can affect younger or older people.", "related-disorders": "Symptoms of the disorders listed below may be similar to those of osteonecrosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Osteopetrosis is a combination of several rare genetically caused symptoms grouped together as one disorder. It can be inherited and is marked by increased bone density, brittle bones, and, in some people, skeletal abnormalities. Although symptoms may not initially be apparent to people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. The dominantly transmitted form is milder than the recessive form and may not be diagnosed until adolescence or adulthood when symptoms first appear. More serious complications occur in the recessive form which may be diagnosed from examination of skeletal x-rays during infancy or childhood. (For more information on this disorder, choose Osteopetrosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2781", "name_zh": "骨硬化症及其相关疾病", "Name": "Osteopetrosis", "disease_name": "Osteopetrosis", "synonyms": "Albers-Schonberg disease", "disease-overview": "", "symptoms": "Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production and loss of cranial nerve function causing blindness, deafness and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.", "causes": "Osteopetrosis can be inherited in either an autosomal dominant or recessive pattern, and extremely rarely, in an X-linked recessive pattern. The basic defect in bone reabsorption is an insufficient production or defective function of cells called osteoclasts. These cells are responsible for bone resorption and aid in the maintenance of healthy bone, which relies on a balance between bone resorption (by osteoclasts) and bone formation (by other specialized cells called osteoblasts). The human skeleton is completely regenerated every 10 years. In this context, osteoclasts are essential for bone turnover (replacement of old bone by new bone), bone remodeling as well as micro-fracture repair.", "affected": "Approximately eight to 40 children are born in the United States each year with the malignant infantile type of osteopetrosis. In the general population, one in every 250,000 individuals is born with this form of osteopetrosis. Higher rates have been found in specific regions of Costa Rica, the Middle East, Sweden and Russia. Males and females are affected in equal numbers.", "related-disorders": "Symptoms of the following disorders may be similar to those of osteopetrosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Melorheostosis is a rare disorder resulting from abnormal development of the outer layer of the bone (cortex) which becomes hyperdense and widened. It also affects the surrounding soft tissues. It is characterized by deformity of one or more limbs, with pain and restriction of movement of the affected limb. It usually occurs sporadically. (For more information on this disorder, choose melorheostosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:668", "name_zh": "骨肉瘤", "Name": "Osteosarcoma", "disease_name": "Osteosarcoma", "synonyms": "osteogenic sarcoma", "disease-overview": "Osteosarcoma is a form of cancer. It is a type of tumor that affects the bones. Osteosarcoma can affect people of any age but is most common during the teen-aged years and is the most common bone cancer affecting children and adolescents under the age of 20. The long bones of the legs, usually near where they connect to the knees, and the upper long bone of the arms, near where this bone meets the shoulders are the most common sites for osteosarcoma formation. Symptoms will vary depending upon the exact location and extent of disease. Pain is the most common symptom of osteosarcoma and there is often a mass or bump that can be felt (palpable). Eighty percent of individuals present with localized disease, which means the cancer remains in the area it first developed. Osteosarcoma can spread (metastasize) to other areas of the body, most likely the lungs. The exact cause is unknown in most individuals, but osteosarcoma can be induced by radiation. Most individuals are treated with a combination of chemotherapy and surgery. Sometimes, radiation therapy may be used.", "symptoms": "The most commonly affected bones are the long bones of the legs. These are the femur and the tibia. The femur, also called the thighbone, runs from the hip to the knee, and the tibia, or shinbone, runs from the knee to the ankle. The femur and the tibia meet at the knee where they help to form the knee joint. Osteosarcomas can form where these bones are growing the fastest in children and adolescents, which is called the growth plate. About 50% of individuals develop an osteosarcoma around the knee. For the legs this is near the knees and includes the bottom of the femur and the tops of the tibia. Osteosarcomas can also affect the upper part of the long bone of the arms called the humerus. The humerus runs from the elbow to the shoulder. The area near where the humerus connects to the shoulder accounts for about 15% of osteosarcomas.", "causes": "As with many forms of cancer, the exact, underlying cause of osteosarcoma is unknown in most individuals. In most children and adolescents, this cancer is thought to occur randomly, for no specific reason (sporadically). Sporadic occurrence of cancer is thought to occur because of multiple factors acting together. This can include genetic and environmental factors. The cancerous cells in osteosarcomas are usually mesenchymal stem cells or osteoblasts. Mesenchymal stem cells are adult stem cells that can grow and change (differentiate) into different types of cells including bone, cartilage, muscle, fat, or connective tissue. Osteoblasts are cells that work to develop new bone. When they become cancerous, they may produce an immature form of bone called an osteoid, which is how the pathologist makes the diagnosis.", "affected": "There are estimated to be about 750-1,000 people diagnosed with osteosarcoma each year in the United States. About 450 of those are children or adolescents under the age of 20. Osteosarcoma is a rare disorder, but it is the most common cause of bone cancer in children and adolescents. These tumors usually affect individuals in their second decade of life (10-19 years of age), most often between 13 and 16 years of age, which most likely coincides with adolescent growth spurts. There is a second increase in the number of people with osteosarcoma in people over the age of 60. Overall, osteosarcoma accounts for about 1% of all cancers diagnosed each year in the United States. Osteosarcoma affect slightly more males than females and is slightly more common in African Americans and Hispanics/Latinos than in Caucasians.", "related-disorders": "Symptoms of the following disorders can be similar to those of osteosarcoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of osteosarcoma is suspected upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A physical examination may reveal swelling or a mass that is tender to the touch, and limited mobility of a nearby joint.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90652", "name_zh": "口面指综合征2型", "Name": "Otopalatodigital Syndrome Type I and II", "disease_name": "Otopalatodigital Syndrome Type I and II", "synonyms": "cranioorodigital syndrome", "disease-overview": "Otopalatodigital syndromes type I and II are rare X-linked genetic disorders in which complete expression of the disease occurs only in males. Females may be affected with some of the symptoms. OPD type I is the milder form of the disease and is characterized by cleft palate, hearing loss and skeletal abnormalities in the skull and limbs. OPD type II includes these abnormalities as well as growth deficiency and, in a minority, abnormalities of the brain and is frequently not compatible with life.", "symptoms": "Individuals with OPD type I typically have short stature, an incomplete closure of the roof of the mouth (cleft palate), a downward slant of the opening between the upper and lower eyelids, hearing loss due to a defect of the middle ear (conductive hearing loss), and abnormal shortness of the fingers and toes. Symptoms that are sometimes seen in OPD type I are: short, broad thumbs and great toes; wide spaces between the toes; one or more fingers bent to the side; two or more digits united (syndactyly); short fingernails; dislocation of the head of the radius (one of the bones of the forearm); a broad bridge of the nose; underdeveloped bones of the face; and/or slow speech development. Females with the disorder may have an overhanging brow, a depressed nasal bridge, a wide space between the eyes, and a flat midface. The symptoms expressed in females vary and are fewer. Females do not have the full expression of this disorder.", "causes": "OPD type I and II are caused by mutations in the FLNA gene on the X chromosome which is responsible for production of the filamin (FLNA) protein. Different mutations in the FLNA gene are responsible for the two syndromes. The filamin protein is normally responsible for helping with the formation and function of the cell’s cytoskeleton, and the mutations appear to give filamin a new function (referred to as a gain-of-function mutation) that leads to OPD type I and II.", "affected": "OPD type 1 and II are rare disorders affecting less than 1 in every 100,000 individuals. The specific incidence for these conditions is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of otopalatodigital syndrome type I and II. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of OPD type I or II is based on physical features and X-ray findings. Clinical molecular genetic testing for mutations in the FLNA gene is available to confirm the diagnosis. Skeletal abnormalities associated with these conditions can sometimes be seen on a prenatal ultrasound exam.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:213500", "name_zh": "卵巢癌", "Name": "Ovarian cancer", "disease_name": "Ovarian Cancer", "synonyms": "", "disease-overview": "Ovarian cancer refers to cancer that arises in the almond-shaped reproductive organs in women in which eggs, or ova, are produced (ovaries), in either of the two tubes through which eggs travel from the ovaries to the uterus (fallopian tubes), or in the membrane that lines the pelvis and the abdominal cavity and covers all of the abdominal organs (peritoneum). There are usually no symptoms (asymptomatic) during the early stages. As a result, ovarian cancer is usually not diagnosed until an advanced stage. Common symptoms that can develop include abdominal swelling or bloating, unintended weight loss, or changes in the bowel habits including constipation. The cause of ovarian cancer is multifactorial, which means that multiple factors that occur together are necessary for the cancer to develop. These factors include genetic, immunologic and environmental factors. About 20% of all women with ovarian cancer have a variation in one of two genes called BRCA1 or BRCA2. BRCA-associated ovarian cancer is not specifically discussed in this report. NORD has a separate report on ovarian cancer caused by variations in these two genes that is titled Hereditary Breast and Ovarian Cancer (HBOC) Syndrome.", "symptoms": "The specific symptoms and physical findings of ovarian cancer can vary from one person to another, depending upon the extent and region(s) of involvement and other factors. Ovarian cancer usually does not cause any symptoms in the early stages. Symptoms may be described as acute (developing rapidly and severely) or subacute (having a slower onset and slower progression).", "causes": "The exact, underlying cause of ovarian cancer is not fully understood. The reason why cancer develops is a complex question and researchers speculate that multiple factors are involved in the development of ovarian cancer. These factors can include genetic, environmental and immunologic factors.", "affected": "In 2017, more than 22,400 women were diagnosed with ovarian cancer in the United States. It affects about 1 in 70 women in the U.S and is the second most common gynecological cancer behind only endometrial cancer. The average age at diagnosis is 63. Worldwide about 240,000 women are diagnosed each year with ovarian cancer. The incidence, which is the number of people with a disease over a given period of time such as one year, is greater in developed countries.", "related-disorders": "Symptoms of the following disorders can be similar to those of ovarian cancer. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of ovarian cancer is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. There is no screening test that can be run that detects ovarian cancer in all women. Ovarian cancer does not cause many symptoms during the early stages of development, and symptoms tend to be nonspecific (common to many diseases). Consequently, ovarian cancer is often undiagnosed until it has spread to the abdomen and pelvis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2138", "name_zh": "46,XX 卵睾两性畸形", "Name": "Ovotesticular Disorder of Sex Developmen", "disease_name": "Ovotesticular Disorder of Sex Developmen", "synonyms": "ovotesticular DSD", "disease-overview": "Ovotesticular disorder of sex development (ovotesticular DSD) is a very rare disorder in which an infant is born with the internal reproductive organs (gonads) of both sexes (female ovaries and male testes). The gonads can be any combination of ovary, testes or combined ovary and testes (ovotestes). The external genitalia are usually ambiguous but can range from normal male to normal female.", "symptoms": "Ovotesticular DSD is characterized by the presence of both ovarian and testicular tissue in the same individual. An ovotestis is present in approximately 2/3 of affected individuals.", "causes": "The exact cause of ovotesticular DSD is known only in a small percentage of patients. Most affected individuals have a 46, XX chromosomal make-up (karyotype), which normally results in female sexual development. In about 10% of patients, testicular tissue in an individual with a 46, XX karyotype is present as a result of a translocation of the SRY gene on the Y chromosome to the X chromosome or another chromosome. In patients with 46, XX, there have been a small number of cases reported with genetic variations of other genes such as, duplication of SOX9, mutations in RSPO1, and a specific mutation in the NR5A1 gene. In the more rare individuals with ovotesticular DSD who have a Y chromosome (which normally results in male sexual development), deletions of DMRT1, mutations of SRY and mutations of MAP3K1 have been reported, as well as a karyotype that shows some cells with XY chromosomes and others with XX chromosomes (XX/XY mosaicism).", "affected": "Ovotesticular DSD is the rarest disorder of sex development in humans and has an approximate incidence of less than 1/20,000. At least 500 affected individuals have been reported.", "related-disorders": "Symptoms of the following disorders can be similar to those of ovotesticular DSD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Klinefelter syndrome is a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the classic form of the disorder have one extra X chromosome. Males with variant forms of Klinefelter syndrome have additional X and/or Y chromosomes. The extra X and/or Y chromosome can effect physical and intellectual development. Common physical features may include small testes (hypogonadism), delayed pubertal development, and breast development (gynecomastia) in late puberty. These features may be associated with low testosterone level and elevated gonadotropin levels. (For more information on this disorder, choose Klinefelter as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2796", "name_zh": "厚皮性骨膜病", "Name": "Pachydermoperiostosis", "disease_name": "Pachydermoperiostosis", "synonyms": "primary hypertrophic osteoarthropathy", "disease-overview": "Pachydermoperiostosis, also called primary hypertrophic osteoarthropathy (PHO) is a rare genetic condition. The three main features are large finger tips (clubbing), thickening of the skin of the face (pachydermia) and extra sweating (hyperhidrosis). It typically starts during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years.", "symptoms": "PHO is characterized by problems with the growth of skin and bones. People with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, large tips of the fingers and toes (clubbing) and extra sweating of the hands and feet (hyperhidrosis).", "causes": "For most individuals, the diagnosis of PHO is based on the clinical features. It is recognized more often in males than females, as males have more noticeable and severe features. PHO can be inherited, but a non-genetic form has also been described.", "affected": "PHO is a rare disorder that affects males more than females with a ratio of 7:1. This means that for about every 7 males that are diagnosed with this condition, 1 female is diagnosed. However, since females tend to have milder symptoms than males, females may go undiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of pachydermoperiostosis. Comparing features can be useful to make the correct diagnosis:", "diagnosis": "Acromegaly is a rare, slowly progressive, acquired disorder that affects adults. It is a condition where extra growth hormone causes different tissues to be become larger than normal and the individual to be taller. The arms, legs, jaws and face are most often affected. Enlargement of soft tissues, especially within the heart, is a serious feature of this condition. (For more information on this disorder choose acromegaly as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2309", "name_zh": "先天性厚甲症", "Name": "Pachyonychia congenita", "disease_name": "Pachyonychia Congenita", "synonyms": "PC", "disease-overview": "", "symptoms": "The symptoms and severity of pachyonychia congenita can vary widely, even among individuals in the same family or among individuals with the same disease-causing gene mutation.", "causes": "Pachyonychia congenita is caused by a mutation in one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 or KRT17. These mutations are inherited in an autosomal dominant manner, although approximately 30-40% of cases are the result of new spontaneous mutations with no previous family history. In an autosomal dominant disorder, only one copy of an abnormal gene is necessary to produce clinical symptoms. The risk of an affected individual passing the abnormal gene to offspring is 50 percent for each pregnancy. For unaffected parents of a child with PC there is a very low risk of having subsequent affected children; germline mosaicism is extremely rare, with as of Jan 2018, only one out of 792 cases reported in the IPCRR.", "affected": "PC affects both males and females. No ethnic differences have been reported. Prevalence is estimated at between 5,000 and 10,000 worldwide.", "related-disorders": "Another autosomal dominantly inherited disorder, Clouston syndrome, can mimic PC due to the overlapping clinical characteristics; occasionally this can lead to misdiagnosis of patients. The features of Clouston sydrome are thick nails (hypertrophic nail dystrophy), partial or total hair loss (alopecia) and palmoplantar hyperkeratosis. Alopecia (partial to total) does not typically occur in PC but is relatively common in Clouson syndrome. Clouston syndrome is caused by mutations in the gap junction protein connexin 30 (GJB6) gene.", "diagnosis": "PC is normally diagnosed by clinical examination, which can now be confirmed at the molecular level. Molecular diagnosis (from a blood sample or saliva sample), of PC patients is available to identify the exact gene defect (mutation) in KRT6A, KRT6B, KRT6C, KRT16 or KRT17 and to confirm the clinical diagnosis. See the Pachyonychia Congenita Project website (www.pachyonychia.org) for details about genetic testing which is offered free of charge for patients that enroll in the IPCRR (https://www.pachyonychia.org/patient-registry/).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:180275", "name_zh": "乳头Paget病", "Name": "Paget disease of the nipple", "disease_name": "Paget Disease of the Breas", "synonyms": "mammary Paget's disease", "disease-overview": "", "symptoms": "Paget’s disease of the breast is a malignant (cancerous) condition that initially appears as chronic, inflammatory, eczema-like changes of the nipple and adjacent areas.", "causes": "Two main theories have been proposed to explain the development of Paget’s disease of the breast. One theory suggests that distinctive cancer cells called Paget’s cells break off from an underlying tumor or malignancy within the breast and travel through the milk ducts to the nipples. Supportive evidence includes laboratory studies demonstrating that Paget cells and the underlying breast cancer share certain characteristics, thus appearing to originate from the same cell population. In addition, malignant cells have been shown to extend along breast ductal tissue from the underlying breast tumor to the nipple. Accordingly, many researchers have concluded that Paget cells appear to be derived from the lining (epithelium) of the milk ducts, invading and multiplying (proliferating) within the surface tissue (epidermis) of the nipple and adjacent areas of the areola. This theory explains why most individuals with Paget’s disease of the breast have an underlying form of cancer.", "affected": "Paget’s disease of the breast is a rare form of breast cancer that almost exclusively affects women. However, there have been rare cases in which the disorder has occurred in men. Paget’s disease of the breast most commonly affects middle-aged individuals, primarily occurring between 50 to 60 years of age, although it has been reported in individuals in their 20s. It is thought to represent less than 5 percent of all breast cancer clinical presentations. The exact prevalence and incidence of Paget’s disease of the breast in the general population is unknown.", "related-disorders": "Symptoms of the following disorders may be similar to those of Paget’s disease of the breast. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Extramammary Paget’s disease (EMPD) is characterized by the development of a reddish, scaling lesion that resembles that seen in Paget’s disease of the breast but does not occur on the breasts. The term extramammary refers to regions other than or outside of the breasts. In those with EMPD, additional symptoms and findings may include itching, burning, pain, and/or bleeding of the affected area. EMPD often involves the female or male external genitals (e.g., vulva, glans penis) and/or the region around the anus (perianal region). EMPD of the vulva is associated with an underlying cancer (carcinoma) in about 30 percent of patients; involvement of the perianal area is associated with a distant or underlying carcinoma in up to approximately 73 percent of individuals.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2800", "name_zh": "乳房外Paget病", "Name": "Paget Disease", "disease_name": "Paget Disease", "synonyms": "osteitis deformans", "disease-overview": "Paget’s disease of bone is a chronic, slowly progressive skeletal condition of abnormally rapid bone destruction (osteolytic) and reformation (osteoblastic). The new bone may occur in one or more regions of the body and is structurally abnormal, dense and fragile. This abnormal development may cause bone pain, arthritis, deformities and fractures. The bones most frequently affected are in the spine, skull, pelvis and lower legs. The exact cause of Paget’s disease is not known.", "symptoms": "Early symptoms of Paget’s disease include bone pain, joint pain (especially in the back, hips and knees), and headache. Physical signs include enlargement and bowing of the thighs (femurs) and lower legs (tibias), and enlargement of the skull in the area of the forehead. Most individuals with Paget’s disease do not have any symptoms (asymptomatic) or only develop mild symptoms.", "causes": "The exact cause of Paget’s disease is unknown. Researchers speculate that the cause of the disorder may be multifactorial (e.g. caused by the interaction of certain genetic and environmental factors). In most cases, no specific cause for Paget’s disease can be identified (sporadic).", "affected": "Paget’s disease is rarely diagnosed in people under the age of 40 years but may occur in up to three percent of the population over the age of 60 years. Paget’s disease affects individuals of all ethnic and racial groups. However, it affects individuals of Asian descent less frequently. Both men and women can be affected with a slight male predominance. The prevalence of Paget’s disease in the United States is estimated to be 1-2 percent of the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Paget’s disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Osteoarthritis is a prevalent form of arthritis that involves degeneration of joints in the body. Osteoarthritis is characterized by a gradual deterioration of the cartilage between bones of the joints. Later, bones may become deformed and the condition becomes painful. This is the most common form of arthritis and it commonly occurs in older people. Symptoms may include pain and joint stiffness particularly in the morning or after exercise or prolonged rest.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:884", "name_zh": "12号染色体短臂四体型", "Name": "Pallister Killian Mosaic Syndrome", "disease_name": "Pallister Killian Mosaic Syndrome", "synonyms": "chromosome 12, Isochromosome 12p syndrome", "disease-overview": "", "symptoms": "Individuals with Pallister-Killian mosaic syndrome typically have low muscle tone at birth (hypotonia), sparse scalp hair, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward.", "causes": "Pallister-Killian mosaic syndrome is caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. The extra two copies of the short arm of chromosome 12 (12p) usually appear as a single chromosome (isochromosome) and are sometimes present in some but not all cells examined (mosaicism). The chromosome abnormality in Pallister-Killian mosaic syndrome is limited to specific cell types. The mechanism and parental origin of the isochromosome 12p can usually not be determined. The extra genetic material disrupts the normal course of development and results in the signs and symptoms of this disorder.", "affected": "Pallister-Killian mosaic syndrome is a very rare disorder that affects males and females in equal numbers. The exact prevalence is unknown; this disorder may be underdiagnosed because it is difficult to detect in patients with mild symptoms. Currently, more than 150 people with this disorder have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Pallister Killian mosaic syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hypomelanosis of Ito is a rare disorder in which the main characteristic is lesions of the skin. A whorl-like lack of pigmentation of the skin may occur on any part of the body except the soles, palms, and scalp. Over half of the patients with this disorder may have seizures, intellectual disability, crossed eyes, nearsightedness, a cleft along the edge of the eyeball (coloboma), an abnormally small head and/or an abnormal overgrowth of brain tissue (megalencephaly). Autosomal dominant inheritance has been suggested in some cases. For more information on this disorder, choose Hypomelanosis of Ito as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2804", "name_zh": "W综合征", "Name": "Pallister W Syndrome", "disease_name": "Pallister W Syndrome", "synonyms": "W Syndrome", "disease-overview": "Pallister W syndrome is a rare genetic disorder characterized by unusual facial features such as clefting of the palate and the upper lip, a broad flat nose, widely spaced slanted eyes, and/or downslanting eyelid folds (palpebral fissures). Other symptoms may include mental retardation, speech problems, bone deformities of the arms and legs, and/or seizures. The exact cause of Pallister W syndrome is not known.", "symptoms": "Pallister W syndrome is apparent at birth.  It is characterized by widely spaced eyes (hypertelorism) with downward slanting eyelid folds (palpebral fissures), a broad flat nasal bridge, a broad tip of the nose, a broad flat jaw, central clefting of the palate or upper lip, seizures, and mental retardation.  There may also be bone abnormalities in the arms and legs such as abnormal deviation of the elbow away from the body when the arm is extended (cubitus valgus).  Other symptoms may include hair that does not lie flat on the head (cowlick), missing teeth (partial adontia), broad uvula, and a high broad forehead.  Additional findings may include tremor and/or involuntary muscle contractions (i.e., spasticity).", "causes": "The exact cause of Pallister W syndrome is not known.  The disorder is thought to be inherited as a X-linked genetic trait.  Geneticists interested in this disorder cannot agree about whether genetic transmission follows the rules of dominant or recessive inheritance patterns.", "affected": "Pallister W syndrome is a very rare disorder.  As of  the year 2000, only six cases had been reported in the medical literature.  More than half involved male infants but the numbers are not large enough to draw any conclusions regarding whether it affects one sex more than the other.", "related-disorders": "Symptoms of the following disorders can be similar to those of Pallister-W Syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Oto-Palato-Digital Syndrome, Types I and II, characteristically affect males more severely than females.  Clefting of the palate, slanting of the eyes, abnormalities of the face, fingers and toes, and speech problems occur. (For more information on this disorder, choose Oto-Palato-Digital as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:672", "name_zh": "Pallister-Hall综合征", "Name": "Pallister-Hall syndrome", "disease_name": "Pallister-Hall Syndrome", "synonyms": "CAVE (cerebro-acro-visceral early lethality) complex", "disease-overview": "", "symptoms": "Symptoms and findings in individuals with PHS may vary greatly in range and severity from patient to patient. Whereas some affected individuals may have only a few characteristic abnormalities, others may have most symptoms and physical features associated with the disorder.", "causes": "PHS is typically inherited in an autosomal dominant pattern with wide variability in expression and is caused by pathogenic variants in the GLI3 gene, termed GLI3-related PHS. In affected families, most individuals with the familial GLI3 gene variant will have symptoms and findings associated with the disorder (high penetrance). However, in such instances, the characteristics may vary in range and severity from patient to patient. The variability within a particular family appears to be less than the variability in affected members of different families. GLI3 is the associated gene in 95% of affected individuals with PHS. A few patients have been found to have two variants in the SMO gene, termed SMO-related PHS. This rare form of PHS is inherited in an autosomal recessive pattern.", "affected": "PHS is an extremely rare disorder that is typically apparent at birth (congenital), appears to affect males and females equally. Approximately 100 patients have been reported in the medical literature, including affected individuals from several large families (kindreds) and single occurrences in which a positive family history has not been found. The range and severity of associated symptoms and findings may vary greatly from one affected individual to the next (variable expressivity). Because PHS is extremely variable and therefore may be under- or misdiagnosed, it may be difficult to determine the true frequency of the disorder in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Pallister-Hall syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are several related disorders characterized by pathogenic variants in the GLI3 gene. This group of disorders includes Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, postaxial polydactyly type A, preaxial polydactyly type IV, oral-facial-digital syndrome, acrocallosal syndrome, and a novel disorder with polydactyly associated with biallelic variants in GLI3. These disorders occur due to distinct variants of the GLI3 gene (allelic disorders) and share some similar characteristics. Despite similarities, these disorders are considered distinct clinical entities.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163927", "name_zh": "掌跖脓疱病", "Name": "Pustulosis palmaris et plantaris", "disease_name": "Palmoplantar Pustulosis", "synonyms": "pustulosis palmaris et plantaris", "disease-overview": "Palmoplantar pustulosis (PPP) is a rare, recurrent inflammatory disorder. Affected individuals develop small to large sterile blisters filled with a yellow turbid liquid (pustules) on the palms of the hands and/or soles of the feet. The pustules may be painful and cause a burning feeling. The condition primarily affects women between 40 and 69 years of age, and predominantly smokers. The exact cause of PPP is not known. Researchers have determined that possible causes include smoking, bacterial infections (acute or chronic tonsillitis, dental infection, chronic sinusitis), contact allergies (mainly metals) and certain medications. Genetics may play a role for patients who have a family history of the disorder. PPP is strongly related to psoriasis vulgaris, some patients have both PPP and plaque psoriasis or PPP and psoriatic arthritis. Psoriatic nail involvement is frequently seen in PPP and a family history of psoriasis is recorded in 10-42% of patients affected by PPP. Depending on the cause, there are many treatments available including certain moisturizers, medications (topical steroids and/or retinoids), light therapy and systemic therapies for severe cases with retinoids, conventional immunosuppressants (methotrexate, cyclosporine) and/or biological therapies.", "symptoms": "PPP causes recurrent crops of sterile pustules to form on the palms of the hands and/or the soles of the feet  The pustules often coalesce in an erythematous background where infiltrated and scaly plaques tends to form after several days with the onset of painful fissures. Itching and/or pain are often present. Patients may also feel like their hands and/or feet are burning. Due to these symptoms, patients may have difficulty walking and performing other daily tasks with the hands and feet.", "causes": "The exact cause of PPP is not known. Researchers have found some possible causes including smoking, infections, certain medications and genetics.", "affected": "PPP mostly affects women between 40 and 69 years of age and smokers, but this condition may affect people of any age.", "related-disorders": "Some researchers suggest that PPP is a type of psoriasis, while others suggest that it is a separate disorder. Psoriasis is a skin condition that causes skin cells to multiply too quickly after inflammation. Symptoms of psoriasis include itchy, scaly skin and dry, red patches which may be painful.", "diagnosis": "A doctor will look at the affected skin and skin swabs might be indicated to confirm the sterile nature (without bacteria or fungi) inside the pustules. In some patients, a skin biopsy will be needed. If a biopsy is necessary, the doctor will take a piece of skin from the affected area to test it for histopathology.", "therapies": "Although there is no definitive cure for PPP but there are different treatment options available."}
{"OrphaCode": "ORPHA:506052", "name_zh": "胰腺神经内分泌肿瘤", "Name": "Pancreatic Neuroendocrine Neoplasms (pNENs)", "disease_name": "Pancreatic Neuroendocrine Neoplasms (pNENs)", "synonyms": "pancreatic endocrine tumors", "disease-overview": "The pancreas is a gland located between the stomach, spleen, duodenum and colon transversum. It contains specialized exocrine cells that secrete enzymes that travel to the intestines and aid in digestion as well as endocrine cells, so called islet cells. Pancreatic neuroendocrine neoplasms (pNENs) are an increasingly common group of malignancies that arise within the endocrine tissue of the pancreas. Endocrine tissue is specialized tissue that contains hormone-secreting cells (e.g. α-cells, ß-cells). These cells secrete several different hormones into the blood (endocrine) or to local cells (paracrine, autocrine). These hormones have a variety of functions within the body (e.g. glucose-metabolism). Neoplasms that arise from endocrine tissue may also secrete hormones, resulting in excessive levels of these hormones in the body and potentially a wide variety of symptoms. There are several different subtypes of functioning pNENs distinguished by the specific type of hormone that they secrete. Insulinomas and gastrinomas are the most common types of hormone secreting pNENs.", "symptoms": "The symptoms, severity and rate of progression of pNENs can vary greatly from one person to another, even among individuals with the same type of malignancy.", "causes": "The exact cause of pancreatic neuroendocrine neoplasms is unknown. Most pNENs occur randomly for no apparent reason (sporadically). Some individuals may have a genetic predisposition to developing pNENs. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but the disorder may not be expressed unless it is triggered or activated under certain circumstances, such as due to certain environmental factors. The genetic or environmental factors associated with pNENs are unknown. More research is necessary to determine what specific factors may play a role in the development of pNENs.", "affected": "PNENs seem to affect women slightly more often than men. Individuals of any ethnic or racial group may develop a pNEN. Affected individuals usually develop sporadic pNENs between the ages of 30-60. When pNENs occur as part of a genetic syndrome, they tend to occur during childhood or young adulthood. PNENs affect approximately ~1 in 100,000 individuals in the general population per year. They account for approximately 2-4 percent of all pancreatic neoplasms.", "related-disorders": "Symptoms of the following disorders can be similar to those of pancreatic neuroendocrine neoplasms. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a pancreatic neuroendocrine neoplasms is made based upon identification of characteristic symptoms (if present), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including advanced imaging techniques (octrotide-scintigraphy, CT, MRI, PET-CT, PET-MRI), blood tests (Chromogranin A, NETest), biochemical tests, and also biopsies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:157850", "name_zh": "大脑铁沉积型神经退行性病变1型", "Name": "Pantothenate kinase-associated neurodegeneration", "disease_name": "Pantothenate Kinase-Associated Neurodegeneration", "synonyms": "Hallervorden-Spatz Syndrome", "disease-overview": "", "symptoms": "The common feature among all individuals with PKAN is iron accumulation in the brain, in a pattern called the ‘eye of the tiger sign,’ along with a progressive movement disorder. Symptoms may vary greatly from case to case. In most cases, progression of the disease extends over several years, leading to death in childhood or early adulthood in classic cases. Some patients experience rapid deterioration and die within 1-2 years. Others have a slower progression or can plateau for long periods of time and continue to function into the third decade of life. Atypical individuals often retain a high level of function into later adulthood and some are known to be living in their sixties to seventies.", "causes": "Individuals with PKAN have abnormal accumulation of iron in certain areas of the brain. This is especially seen in regions of the basal ganglia called the globus pallidus and the substantia nigra. The basal ganglia is a collection of structures deep within the base of the brain that assist in regulating movements. The exact relationship between iron accumulation and the symptoms of PKAN is not fully understood.", "affected": "PKAN affects males and females in equal numbers. The symptoms typically develop during childhood, although occasionally they begin during late adolescence or adulthood. Cases in infancy and of adult onset have also been reported.", "related-disorders": "Symptoms of the following disorders can be similar to those of PKAN. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of PKAN is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. PKAN is typically suspected when the characteristic brain MRI finding called the eye-of-the-tiger sign, which is a dark area indicating accumulation of iron with a bright spot in the center, is observed on T2-weighted MRI. This MRI finding is not seen in other forms of NBIA.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:678", "name_zh": "Papillon-Lefèvre综合征", "Name": "Papillon-Lefèvre syndrome", "disease_name": "Papillon Lefèvre Syndrome", "synonyms": "keratoris palmoplantaris with periodontopathia", "disease-overview": "Papillon-Lefèvre syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles (palmar-plantar hyperkeratosis) in association with severe inflammation and degeneration of the structures surrounding and supporting the teeth (periodontium). The primary (deciduous) teeth frequently become loose and fall out by about age five. Without treatment, most of the secondary (permanent) teeth may also be lost by approximately age 17. Additional symptoms and findings associated with PLS may include frequent pus-producing (pyogenic) skin infections, abnormalities of the nails (nail dystrophy), and excessive perspiration (hyperhidrosis). Papillon-Lefèvre syndrome is inherited in an autosomal recessive pattern. It results from changes (alterations) of the CTSC gene that regulates production of an enzyme known as cathepsin C.", "symptoms": "Papillon-Lefèvre syndrome is characterized by the development of dry scaly patches of skin (hyperkeratosis) usually around the age of one to five years. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. Rarely, the upper portions of the hands and feet, the eyelids, the lips, the cheeks, and/or other areas of the body may also be affected. Affected skin may be unusually red and thick, but can vary in color and texture. Skin lesions may worsen in the cold and walking may be painful. In rare instances, cysts may form on the eyelids later in life.", "causes": "Papillon-Lefèvre syndrome is caused by changes (alterations) in CTSC (Cathepsin C) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a gene is altered, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Papillon-Lefèvre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. More than 200 cases have been reported in the medical literature. In the general population, the disorder occurs in approximately one to four individuals per million. However, determining the incidence or prevalence of rare disorder is extremely difficult. Skin abnormalities associated with this disorder may be present at birth (congenital) or by the age of five. Other symptoms usually become apparent between the third and fifth year of life.", "related-disorders": "Symptoms of the following disorders can be similar to those of Papillon-Lefèvre syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Haim-Munk syndrome, also known as keratosis palmoplantaris with periodontopathia and onychogryphosis is a rare inherited disorder. It is characterized by reddening and overgrowth of skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis) and overgrowth of the fingernails and toenails (onychogryphosis). Affected individuals may also have flat feet (pes planus); abnormally long, slender fingers and toes (arachnodactyly); and/or a heightened sensitivity to cold temperatures and loss of bone tissue in the fingers and toes (acroosteolysis). Degeneration of the structures that surround and support the teeth may also be present. Haim-Munk syndrome is inherited as an autosomal recessive genetic trait. Some researchers believe the disorder may be a variant of Papillon-Lefèvre syndrome. (For more information, choose Haim Munk as your search term in the Rare Disease Database.)", "therapies": "Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, physicians who evaluate and treat skin problems (dermatologists), dentist, dental surgical team, which includes a pediatric dentist, a specialist in treating disorders affecting the area supporting and surrounding the teeth (periodontist), and a specialist in the restoration and replacement of teeth (prosthodontist), and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Genetic counseling may be of benefit for affected individuals and their families. Psychosocial support is recommended for the entire family as well."}
{"OrphaCode": "ORPHA:73260", "name_zh": "副球孢子菌病", "Name": "Paracoccidioidomycosis", "disease_name": "Paracoccidioidomycosis", "synonyms": "Lobo Disease", "disease-overview": "Paracoccidioidomycosis (PCM) is a chronic infectious tropical disease caused by the fungus Paracoccidioides brasiliensis. The initial infection usually occurs in the lungs, but may also spread to the skin, mucous membranes, and other parts of the body. Specialized cells that line the walls of blood and lymphatic vessels and dispose of cellular waste (reticuloendothelial system) may also be affected by paracoccidioidomycosis. If the patient does not receive treatment, life-threatening complications can occur. Most cases of this disease occur in South and Central America.", "symptoms": "The symptoms of paracoccidioidomycosis generally occur from several weeks or months to years after the initial exposure to the fungus.  The symptoms vary according to which areas of the body are infected.", "causes": "Paracoccidioidomycosis is caused by infection with a fungus known as Paracoccidioides brasiliensis.  Many cases of this disease occur years after airborne fungal spores are inhaled, although the period of latency is not always this long.", "affected": "Paracoccidioidomycosis is a rare fungal disease.  For reasons that are not clearly understood, its chronic adult form affects males 15 times more frequently than it does females.  Most affected people are between the ages of 20 and 50 years.  The subacute juvenile form of the disorder affects males and females equally.", "related-disorders": "Symptoms of the following disorders can be similar to those of Paracoccidioidomycosis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Blastomycosis or North American Blastomycosis is a systemic fungal infection caused by Blastomyces dermatitidis.  It occurs primarily in the southeastern and Mississippi valley areas of the United States.  Symptoms initially include fever, chills, cough, heavy sweating, and/or difficulty breathing (dyspnea).  Other symptoms may develop later and involve the lungs, skin, bones, joints, kidneys, and/or central nervous system.  Chronic infection of the lungs may lead to pneumonia.  If left untreated, Blastomycosis can have life-threatening complications.   (For more information on this disorder, choose Blastomycosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:684", "name_zh": "Von Eulenburg先天性副肌强直", "Name": "Paramyotonia congenita of Von Eulenburg", "disease_name": "Paramyotonia Congenita", "synonyms": "Eulenburg disease", "disease-overview": "", "symptoms": "Muscle stiffness in PMC is the inability for the muscles to relax in a timely manner after contracting (myotonia). The muscles most commonly affected are located in the face, neck and upper extremities, although it can affect the muscles used for breathing and swallowing, as well as muscles in the lower back. PMC is usually apparent during infancy and always presents by teenage years. Symptoms do not progress with age. Individuals with this disorder do not have wasting of muscles (atrophy) but often have an increase of muscle bulk (hypertrophy).", "causes": "PMC is an autosomal dominant genetic condition caused by a change (mutation) in the SCN4A gene which codes for a sodium channel specific for skeletal muscles.", "affected": "PMC is a very rare disorder that affects males and females in equal numbers. The symptoms can begin during infancy, and are always apparent by the teenage years. It is estimated to affect fewer than 1 in 100,000 people.", "related-disorders": "Symptoms of the following disorders can be similar to those of paramyotonia congenita. Comparisons may be useful for a differential diagnosis.", "diagnosis": "When PMC is suspected, a test is administered to test the capacity of muscles to conduct electricity (electromyography). During the test, the muscles are chilled and electrical signals are recorded before and after the muscle is cooled. The electromyography (EMG) will show rapid repetitive electrical discharges. EMG cannot always diagnose PMC definitively, and further testing may be necessary.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:36388", "name_zh": "神经系统副肿瘤综合征", "Name": "Paraneoplastic neurologic syndrome", "disease_name": "Paraneoplastic Neurologic Syndromes", "synonyms": "", "disease-overview": "Paraneoplastic neurologic syndromes (PNS) are a group of conditions that affect the nervous system (brain, spinal cord, nerves and/or muscles) in patients with cancer. The term paraneoplastic means that the neurological syndrome is not caused by the tumor itself, but by the immunological reactions that the tumor produces. It is believed that the body’s normal immunological system interprets the tumor as an invasion. When this occurs, the immunological system mounts an immune response, utilizing antibodies and lymphocytes to fight the tumor. The end result is that the patient’s own immune system can cause collateral damage to the nervous system, which can sometimes be severe. In many patients, the immune response can cause nervous system damage that far exceeds the damage done to the tumor. The effects of PNS can remit entirely, although there can also be permanent effects.", "symptoms": "Paraneoplastic neurologic syndromes can manifest themselves in different ways, such as encephalitis (inflammation of the brain), ataxia (loss of balance), neuropathy (progressive numbness/ weakness of feet and hands), myoclonus/opsoclonus (body jerks and irregular rapid eye movements), psychiatric disturbances, or myasthenia gravis (a neuromuscular disorder that causes extreme weakness of several muscle groups, including those that control breathing). It is the presence of specific paraneoplastic antibodies that often leads to the diagnosis of a paraneoplastic neurologic syndrome.", "causes": "The specific cause of PNS is unknown. The findings in the serum or cerebrospinal fluid (CSF) of antibodies (onconeural antibodies) to specific malignant tumors suggest that the cause of some PNS is the immune response against the tumor being misdirected against the nervous system.", "affected": "In general, PNS are considered rare disorders. However, some PNS such as the paraneoplastic neuropathies are relatively frequent, affecting approximately 10% of patients with some cancers of the immunological system. In many instances, PNS are not recognized and the patients’ complaints attributed to other more common problems.", "related-disorders": "", "diagnosis": "Patients with a suspected paraneoplastic syndrome should receive a complete panel of laboratory studies, including blood, urine, and CSF. In addition, the use of an MRI, EEG (electroencephalogram), and EMG (electromyogram) can further display abnormalities that help to diagnose PNS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90035", "name_zh": "阵发性冷性血红蛋白尿", "Name": "Paroxysmal cold hemoglobinuria", "disease_name": "Paroxysmal Cold Hemoglobinuria", "synonyms": "Donath-Landsteiner hemolytic anemia", "disease-overview": "", "symptoms": "The typical presentation is that of a child who during the preceding 1-2 weeks had suffered from what appeared to be an undefined or flu-like illness. Usually the onset of hemolysis is signaled by a recurrence of fever and then the passage of red-brown urine. This urine contains the iron bearing, oxygen transporting,  protein pigment of blood called hemoglobin, which is released when red blood cells are prematurely destroyed. The presence of hemoglobin in the urine (hemoglobinuria) causes the dark brown color of the urine. Hemoglobinuria, hemoglobinemia (hemoglobin in the plasma), jaundice and pallor are common clinical findings in acute PCH and, of particular significance is that hemoglobinuria is found in almost all acute cases in childhood.", "causes": "In most affected children, PCH occurs as an acute hemolytic anemia, following an infection and spontaneously resolves once the infection subsides. Usually, PCH does not recur (self-limited) in children, but recurrent cases have been reported in the medical literature. In most adults the cause of PCH is unknown (idiopathic) and is usually a chronic disease. With the dramatic decline in the prevalence of syphilis, PCH in adults has declined, and the current understanding of the adult form of the disease is less clear.", "affected": "Autoimmune hemolytic anemias as a group are estimated to affect 1-3 people per 100,000 in the general population.  Both the syphilitic and non-syphilitic forms of chronic PCH are exceedingly rare.  The prevalence and incidence rates are unknown.   Anyone may acquire PCH, but it is more common among children than among adults. An individual with a viral infection is at higher risk of contracting the disorder. No known genetic, sex, or racial risk factors exist, although the disease has been reported in families.", "related-disorders": "Symptoms of the following disorders can be similar to those of PCH. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of PCH may be suspected in some individuals with anemia. In particular, the diagnosis should be suspected in any acutely ill child with hemoglobinuria. A diagnosis is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms and a variety of specialized tests such as a direct antiglobulin test (Coombs) test, which is used to detect certain antibodies that act against red blood cells. A diagnosis of PCH is confirmed by the results of a Donath-Landsteiner test, which can distinguish PCH from other forms of hemolytic anemia. The test consists of incubating a sample of the patient’s serum with normal red blood cells (RBCs) in the cold for 30 minutes and then warming the mixture to body temperature (37C). Hemolysis of the RBCs in this bi-phasic test indicates a diagnosis of PCH.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:447", "name_zh": "阵发性睡眠性血红蛋白尿症", "Name": "Paroxysmal nocturnal hemoglobinuria", "disease_name": "Paroxysmal Nocturnal Hemoglobinuria", "synonyms": "PNH", "disease-overview": "Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder in which red blood cells break apart prematurely. It is an acquired hematopoietic stem cell disorder. Hematopoietic stem cells are created in the bone marrow, the spongy center of the long bones of the body. These cells grow and eventually develop into red blood cells, white blood cells and platelets. Some hematopoietic stem cells in individuals with PNH are defective and consequently produce defective blood cells. These defective red blood cells of PNH are extremely susceptible to premature destruction by a particular part of a person’s own immune system called the complement system. The destruction of red blood cells (hemolysis) by complement leads to episodes of hemoglobin in the urine (hemoglobinuria). Hemoglobin is the red, iron-rich, oxygen-containing pigment of the blood. Individuals with hemoglobinuria may exhibit dark-colored or blood colored urine. This finding is most prominent in the morning, after the urine has concentrated overnight during sleep. However, hemolysis in individuals with PNH is a constant process (i.e., it does not occur only at night). Hemoglobin in the urine may not always be visible. In addition to hemolysis, individuals with PNH are also susceptible to developing repeated, potentially life-threatening blood clots (thromboses). Affected individuals also have some degree of underlying bone marrow dysfunction. Severe bone marrow dysfunction results in low levels of red and white blood cells and platelets (pancytopenia). The specific symptoms of PNH vary greatly from one person to another and affected individuals usually do not exhibit all the symptoms associated with the disorder.", "symptoms": "The symptoms of PNH occur because of the production of defective blood cells and because the bone marrow does not produce enough blood cells. The specific symptoms and progression of the disorder vary greatly from one person to another. Some individuals may have mild symptoms that remain stable for many years; others may have serious symptoms that can progress to cause life-threatening complications.", "causes": "Two factors are necessary for the development of PNH: an acquired somatic mutation of the PIGA gene, which affects one or more hematopoietic stem cells creating defective PNH blood cells, and a process that leads to the multiplication and expansion of these defective stem cells. Most likely, PNH arises in the setting of autoimmune bone marrow failure, as occurs in most cases of acquired aplastic anemia. Researchers believe that defective PNH stem cells survive the misguided attack by the immune system and multiply, while healthy stem cells are destroyed, resulting in the development of PNH. The reason that defective cells survive while healthy cells are destroyed is incompletely understood but appears to be due to properties of the PNH cell that provide a survival advantage in the setting of immune-mediated attack on the bone marrow.", "affected": "PNH is believed to affect males and females in equal numbers, although some studies show a slightly more females affected. The prevalence is estimated to be between 0.5-1.5 per million people in the general population. The disorder has been described in people of many ethnic backgrounds and has been identified in all areas of the world. The disorder may occur with greater frequency in individuals from Southeast Asia or the Far East who experience greater rates of aplastic anemia. The disorder can affect any age group. The median age at diagnosis is during the 30s.", "related-disorders": "Symptoms of the following disorders can be similar to those of PNH. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). In individuals with PNH, blood clots (thromboses) block the hepatic veins. Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly) and/or accumulation of fluid (ascites) in the space between the two layers of the membrane that lines the stomach (peritoneal cavity). Additional findings that may be associated with the disorder include nausea, vomiting and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from person to person, depending upon the site and number of affected veins. In some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver (portal hypertension) may be present. (For more information on this disorder, choose Budd-Chiari as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1214", "name_zh": "进行性半侧颜面萎缩", "Name": "Progressive hemifacial atrophy", "disease_name": "Parry Romberg Syndrome", "synonyms": "hemifacial atrophy (HFA)", "disease-overview": "Parry-Romberg syndrome is a rare, acquired disorder characterized by slowly progressive shrinkage (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy). In rare cases, both sides of the face are affected. In some people, atrophy may also affect the limbs, usually on the same side of the body as the facial atrophy.", "symptoms": "The symptoms, progression and severity of Parry-Romberg syndrome are highly variable from one person to another and range from mild to severe. It is important to note that affected individuals will not have all the symptoms discussed below. It seems likely that individuals with milder symptoms are much more common than severely affected individuals. Affected individuals should talk to their physician and medical team about their specific case and associated symptoms.", "causes": "The cause of Parry-Romberg syndrome is unknown and appears to occur randomly for unknown reasons (sporadically). Different theories have been proposed to explain the development of the disorder including abnormal development or inflammation of the sympathetic nervous system; viral infections; inflammation of the brain and membranes (meninges) covering the brain (meningoencephalitis); trauma; abnormalities of blood vessel formation (angiogenesis); or autoimmunity.", "affected": "Parry-Romberg syndrome is a rare disorder. The true incidence is unknown. Because the disorder often goes undiagnosed or misdiagnosed, determining the true frequency of Parry-Romberg syndrome in the general population is difficult. Researchers have estimated that Parry-Romberg may affect as many as 1 in 250,000 people in the general population. Parry-Romberg syndrome appears to affect females slightly more often than males, but proper studies of the population are lacking. Parry-Romberg syndrome typically becomes apparent during the first or early during the second decade of life, with most affected individuals experiencing symptoms before the age of 20 years. However, the disorder has been described in infants and individuals more than 50 years of age. Parry-Romberg syndrome was originally described in the medical literature in 1825 (C.H. Parry) and 1846 (E. Henoch and H.M. Romberg). There are anecdotal reports of Parry-Romberg syndrome worsening in some pregnant women, either during pregnancy or shortly after childbirth.", "related-disorders": "Symptoms of the following disorders can be similar to those of Parry-Romberg syndrome. Comparisons may be useful for a differential diagnosis, although the clinical features of Parry Romberg syndrome are quite distinct to a doctor familiar with the condition.", "diagnosis": "A diagnosis of Parry-Romberg syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:279914", "name_zh": "中间葡萄膜炎", "Name": "Pars Planitis", "disease_name": "Pars Planitis", "synonyms": "Intermediate Uveitis (UI)", "disease-overview": "Although pars planitis is generally benign, there can be significant vision loss in extreme cases. It is an immunological disorder of the eye characterized by inflammation of a part of the uvea, the layer of tissue between the sclera and the retina, the membranes protecting the eyeball. The uvea, in turn, is made up of three portions: the iris, the ciliary body, and the choroid. In addition, the uvea contains many of the blood vessels that supply the eye.", "symptoms": "The symptoms of pars planitis include blurred vision and dark floating spots that intrude upon clarity of eyesight. Swelling can occur inside the eye, particularly on the peripheral retina or macula that may lead to decreased vision. Glaucoma may occur as well.", "causes": "Pars planitis is thought to be an autoimmune disorder. An autoimmune reaction causes the inflammation that is thought to cause symptoms of this disorder.", "affected": "Pars planitis is an uncommon ocular disorder of children and young adults that affects males slightly more frequently than females.", "related-disorders": "The following disorders may be associated with pars planitis as secondary characteristics.  They are not necessary for a differential diagnosis:", "diagnosis": "Pars planitis is usually diagnosed by means of a thorough physical evaluation, detailed patient history, and specialized eye examination.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2901", "name_zh": "神经痛性肌萎缩", "Name": "Parsonage Turner Syndrome", "disease_name": "Parsonage Turner Syndrome", "synonyms": "acute brachial neuritis", "disease-overview": "", "symptoms": "The hallmark finding of PTS is the abrupt onset of pain in one of the shoulders (unilateral pain). In rare cases, both shoulders can be affected (bilateral). Onset may be rapid in some people, while in others pain onset is gradual and subtle (insidious), followed by a rapid increase in both intensity and severity. Pain has been described as sharp, aching, burning or stabbing. Pain may also affect the neck and the arm and hand on the same side as the affected shoulder.", "causes": "The exact, underlying cause of PTS is not fully understood. Different factors, including immunological, environmental and genetic ones, are thought to play a role in the development of the disorder.", "affected": "PTS affects males more often than females. The incidence of the disorder is based upon available population studies and is estimated to be approximately 1.64 to 3 people per every 100,000 individuals in the general population per year. However, cases of PTS may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. The condition develops most often in young to middle-aged adults but has been reported in young children and the elderly.", "related-disorders": "Additional conditions or disorders that can cause symptoms similar to those seen in PTS include bursitis, rotator cuff injury or disease, calcific tendonitis, impingement syndromes, Guillain-Barre syndrome, cervical disc disease, cervical radiculopathy, mononeuritis monoplex, amyotrophic lateral sclerosis (Lou Gehrig’s disease), chronic inflammatory demyelinating polyneuropathy, polymyalgica rheumatica, thoracic outlet syndrome and brachial plexus injury secondary to cancer (neoplastic brachial plexopathy). Adhesive capsulitis, which can develop as a complication of PTS, can develop for other reasons as well. NORD has individual reports on some of these disorders. (For more information, choose the specific disorder name as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of PTS is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90797", "name_zh": "部分性雄激素不敏感综合征", "Name": "Partial androgen insensitivity syndrome", "disease_name": "Partial Androgen Insensitivity Syndrome", "synonyms": "PAIS", "disease-overview": "", "symptoms": "Characteristics of partial androgen sensitivity syndrome vary from person. Each person with PAIS is unique and may not have the same features.", "causes": "Partial androgen insensitivity syndrome is a genetic condition that is inherited in an X-linked recessive pattern. The gene related to partial androgen sensitivity syndrome is the AR gene, which is located on the X chromosome. When people have a change in the AR gene, their bodies may have issues producing androgen receptors, which are structures in cells that allow the body to properly respond to androgens (male sex hormones). Because of problems with the androgen receptors, people with changes in the AR gene have the characteristics of partial androgen sensitivity syndrome.", "affected": "Partial androgen sensitivity syndrome is very rare in the general population. 1 in 99,000 male infants are born with one of the several androgen sensitivity syndrome types, including PAIS. PAIS only affects males, but females can be carriers for this genetic condition.", "related-disorders": "Symptoms of the following disorders can be similar to those of partial androgen insensitivity syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Because features of partial androgen insensitivity syndrome vary from person to person, there are no standard diagnostic procedures for PAIS. PAIS may be suspected based on clinical features such as female-appearing genitals, absence of female sex organs (ovaries and the uterus), and issues with sperm production. Some laboratory results can help with the diagnosis. For example, if the patient has some physical features of PAIS and is confirmed through genetic testing to have XY chromosomes, it would further support the possibility of PAIS. Some other lab results that could help with diagnosis include having normal or high levels of testosterone (produced by testes) and luteinizing hormone (produced by pituitary gland).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71528", "name_zh": "激酶原转化酶1缺乏所致肥胖症", "Name": "Obesity due to prohormone convertase I deficiency", "disease_name": "PCSK1 Deficiency", "synonyms": "obesity due to prohormone convertase deficiency", "disease-overview": "", "symptoms": "The symptoms of PCSK1 deficiency are due to abnormalities of the endocrine glands. The endocrine glands make hormones that affect growth, sexual development, blood pressure and the way the body makes and uses energy. Babies with PCSK1 deficiency develop severe diarrhea and digestive problems in the first few months of life. Symptoms may last for several months and lead to poor growth and weight gain. Sometimes, the diarrhea is severe enough to lead to hospitalization. These symptoms eventually get better and other symptoms related to endocrine gland abnormalities develop. These include uncontrollable hunger and early-onset obesity which continues through adulthood. Other symptoms include the inability to absorb salt and water, causing extreme thirst (polydipsia) and frequent urination (polyuria). Other endocrine problems include low levels of sex hormones, thyroid gland insufficiency and growth hormone deficiency. Puberty may be delayed or absent. Adults with PCSK1 deficiency are shorter than average and obese.", "causes": "PCSK1 deficiency is caused by pathogenic variants (mutations) in the PCSK1 gene. This gene makes a protein that plays an important role in processing many of the endocrine gland hormones involved in energy, metabolism and appetite regulation. When the PCSK1 gene is not working, these hormones don’t work correctly.", "affected": "PCSK1 deficiency is very rare and has been reported in less than 50 people. Many of the people that have been diagnosed with this condition are from Turkey and the Middle East. It has been diagnosed more often in populations where marriage between relatives is customary.", "related-disorders": "PCSK1 deficiency is one of several rare inherited conditions that lead to early-onset obesity. These conditions are due to variants in one of the genes that normally work together to help regulate hunger and energy production. These conditions may be difficult to diagnose based solely on clinical examination. Severe diarrhea in infancy may set PCSK1 deficiency apart from other early-onset obesity conditions, but often genetic testing is the only way to tell the difference between them. Some (but not all) of these conditions include:", "diagnosis": "PCSK1 deficiency is diagnosed based on a clinical examination, symptoms and the results of blood and genetic testing. Severe malabsorptive diarrhea is one of the first symptoms of PCSK1 deficiency, but has many other, more common causes. Because of that, PCSK1 deficiency is often not diagnosed until the other symptoms, especially early-onset obesity become apparent.", "therapies": "In early childhood, treatments for obesity may include weight management through diet and behavioral therapies. Gastric bypass surgery has been tried in at least one patient. Several medications are available for treating obesity, although all have limited effectiveness and may have side effects. Most of these treatments do not result in permanent weight loss."}
{"OrphaCode": "ORPHA:206", "name_zh": "欧洲非罕见：克罗恩病", "Name": "Pediatric Crohn Disease", "disease_name": "Pediatric Crohn Disease", "synonyms": "", "disease-overview": "", "symptoms": "The signs and symptoms can vary from one person to another. Symptoms can appear suddenly, or they may build slowly over time. Symptoms may be triggered by trauma, illness or stress. Sometimes, symptoms occur with no identifiable triggering event.", "causes": "The exact cause of pediatric Crohn’s disease is not fully understood. Most likely, pediatric Crohn’s disease is a multifactorial disorder, which means that multiple factors must occur together for the disorder to develop. These factors can include genetic, immunological and environmental factors.", "affected": "Crohn’s disease is a common disorder, affecting as many as 780,000 people in the United States. The disorder is most common in individuals between 15-35, with approximately 25% diagnosed by age 20. There is another increase in frequency among individuals between 60-80 years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of pediatric Crohn’s disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of pediatric Crohn’s disease is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Pediatric Crohn’s disease may be suspected in children or adolescents with chronic abdominal pain, diarrhea, weight loss and anemia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:817", "name_zh": "皮肤剥离综合征", "Name": "Peeling skin syndrome", "disease_name": "Peeling Skin Syndrome", "synonyms": "deciduous skin", "disease-overview": "Peeling skin syndrome (PSS) is a group of rare inherited skin disorders in which the normal gradual process of invisible shedding of the outermost skin layers is hastened and/or aggravated. PSS is characterized by painless, continual, spontaneous skin peeling (exfoliation) due to a separation of the outermost layer of the epidermis (stratum corneum) from the underlying layers. Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). Symptoms may be present from birth or appear in early childhood and are often exacerbated by friction, heat or other external factors. Based on the extent of skin involvement, PSS may involve the skin of the entire body (generalized form), or is limited to the extremities, mostly hands and feet (localized form). Generalized PSS can be distinguished into an inflammatory type which is associated with erythema, involves other organ systems and is more severe, and a milder, non-inflammatory type. PSS may be caused by disease-causing variants in multiple genes encoding proteins with crucial functions for cell-cell adhesion: structural proteins forming cell-cell adhesion points (desmosomes, corneodesmosomes) and inhibitors of epidermal proteases that control skin shedding.", "symptoms": "Peeling skin syndrome belongs to the groups of congenital ichthyosis and skin fragility disorders with autosomal recessive inheritance. Most forms of PSS manifest at birth or during infancy with shedding or peeling of the outermost layer of the skin (horny layer, aka stratum corneum). Skin peeling occurs spontaneous, is painless, and may persist lifelong with gradual improvements. Often, affected individuals and/or their caregivers can remove sheets of skin manually, comparable to skin peeling after a severe sunburn.", "causes": "To date, genetic changes in several distinct genes have been reported to cause PSS.  These genes encode either structural proteins of corneocytes, the cells of the outermost skin layer (CDSN; DSG1; FLG2; DSC3; JUP) or inhibitors of epidermal proteases (SPINK5, CSTA; CAST; SERINB8), which are crucial regulators for the degradation of corneodesmosomes and shedding of corneocytes.", "affected": "Peeling skin syndrome is a rare inherited disorder that, in theory, affects males and females in equal numbers. More than 100 cases have been reported in the medical literature from different population groups. Peeling skin syndrome due to variants in the CHST8 and CSTA genes were reported in consanguineous Pakistani and in Bedouin families, respectively. In Japanese individuals, a particularly common deletion involving CDSN has been reported. In Europeans, acral PSS due to TMG5 variants is more common.", "related-disorders": "Symptoms of the following disorders can be similar to those of peeling skin syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Exfoliative dermatitis refers to a scaling skin disorder accompanied by distinct reddening (erythematous dermatitis) involving 90% or more of the skin surface. It is characterized by erythema and scaling involving the skin’s surface that often obscures the primary lesions. It is frequently difficult for clinicians to find the cause of exfoliative dermatitis even though the history of illness prior to erythema and scaling is obtained. Often, biopsies and blood studies are required. The term red man syndrome is reserved for idiopathic exfoliative dermatitis in which no primary cause can be found, notwithstanding a variety of examinations and tests. This form of the disorder is characterized by marked hardening of the skin of the palms and soles, swelling (lymphadenopathy), and raised levels of immunoglobulin E.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:702", "name_zh": "佩-梅病", "Name": "Pelizaeus-Merzbacher disease", "disease_name": "Pelizaeus-Merzbacher Disease", "synonyms": "PMD", "disease-overview": "", "symptoms": "The signs of PMD may vary widely from person to person. The signs of the classical form of PMD usually begin during early infancy, typically before 2 months of age. Initially, affected infants may fail to develop normal control of the head and eyes, specifically abnormal head bobbing and rapid, involuntary, jerky eye movements (nystagmus). Abnormally slow growth may also be an early sign. As affected infants and children age, additional signs may become apparent, including muscle tremors, weakness, facial grimacing, lack of muscle tone (hypotonia), impaired ability to coordinate voluntary movements (ataxia), and/or impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation) including delays in reaching developmental milestones such as sitting, standing, and walking. Affected individuals may also develop involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs and potentially partial paralysis of the arms and legs (spastic quadriparesis); abnormal, permanent fixation of certain joints (contractures); progressive degeneration of the nerves that lead to the eyes (optic atrophy); and/or difficulty speaking (dysarthria). As some affected children age, nystagmus may disappear. Some children may also develop skeletal deformities secondary to the severe spasticity that typically develops over time.", "causes": "PMD is inherited as an X-linked recessive genetic disorder that affects mostly males. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females that have a disease gene present on one of their two X chromosomes are carriers for that disorder. Female carriers usually do not display symptoms because one of their two X chromosomes is inactivated so that the genes on that chromosome are nonfunctioning. It is usually the X chromosome with the abnormal gene that is inactivated. Males have one X chromosome that is inherited from their mother, and if a male inherits an X chromosome that contains a disease gene, he will develop the disease.", "affected": "The classical and connatal forms of PMD affect males far more often than females. In rare cases, heterozygous females will exhibit some of the signs associated with the disorder. However, in the milder forms of PMD and the allelic SPG2 and HEMS, carrier females may be affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of PMD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of PMD may be suspected based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests such as magnetic resonance imaging (MRI) to detect deficiency of white matter. Recognition of early myelination defects, such as lack of myelination in the cerebellum and brainstem, may aide in early diagnosis of the severe forms of PMD. Molecular genetic testing for the PLP1 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:63275", "name_zh": "妊娠性类天疱疮", "Name": "Pemphigus and Pemphigoid", "disease_name": "Pemphigus and Pemphigoid", "synonyms": "", "disease-overview": "Pemphigus and pemphigoid are rare autoimmune blistering diseases of the skin and/or mucous membranes. Pemphigus affects the outer layer of the skin (epidermis) and causes lesions and blisters that easily rupture. Pemphigoid affects a lower layer of the skin, between the epidermis and the dermis, creating tense blisters that do not break easily. Sometimes pemphigoid may look like hives or eczema without blisters.", "symptoms": "There are several different types of pemphigus.", "causes": "Pemphigus and pemphigoid are not inherited but there can be a genetic predisposition to develop the disease. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or activated under certain circumstances, such as due to particular environmental factors. It is not currently possible to predict who may get these diseases.", "affected": "Males and females are equally affected. The conditions are known to affect people from all racial and cultural backgrounds. However, there are certain groups of people (Ashkenazi Jews, people of Mediterranean, North Indian and Persian decent) who have a higher incidence of pemphigus.", "related-disorders": "", "diagnosis": "Pemphigus and pemphigoid are diagnosed through special testing and clinical presentation. Types of testing include:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:705", "name_zh": "Pendred综合征", "Name": "Pendred syndrome", "disease_name": "Pendred Syndrome", "synonyms": "PDS", "disease-overview": "", "symptoms": "The most common symptoms of Pendred syndrome include:", "causes": "Pendred syndrome is caused by changes (mutations) in three genes (SLC26A4, FOXI1, or KCNJ10) in about 50% of patients, and the other half are due to unknown causes.  Mutations in SLC26A4 (also known as PDS), which encodes the protein pendrin, are the most common identifiable causes of Pendred syndrome. Pendrin is found in the inner ear (responsible for hearing and balance), the thyroid (a butterfly-shaped organ in the lower neck which is responsible for controlling metabolism) and kidneys (responsible for filtering waste and controlling salt levels). Pendrin pumps chloride and iodide to maintain their ion balance in the inner ear, thyroid and kidney. Mutations in these genes result in a lack of pendrin, so the ion levels become unbalanced and cause hearing and balance issues, a swollen thyroid and less commonly electrolyte imbalances.", "affected": "Pendred syndrome affects approximately 2-3 per 1,000 children. This condition is not known to occur more often in people with different racial/ethnic backgrounds.", "related-disorders": "Congenital cytomegaloviral infection (cCMV) – may also cause hearing loss at birth due to a viral infection during pregnancy", "diagnosis": "Hearing loss at birth or during childhood is usually the first sign of this disease. An MRI scan of the inner ear may show an enlarged vestibular aqueduct or an abnormal cochlea. Genetic testing for the pendrin gene is the most common test leading to a diagnosis of Pendred syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:11", "name_zh": "X染色体五倍体", "Name": "Penta X Syndrome", "disease_name": "Penta X Syndrome", "synonyms": "49, XXXXX chromosome constitution", "disease-overview": "Penta X syndrome is an extremely rare chromosomal disorder in which females have three extra X chromosomes. Typically, females have only two X chromosomes, resulting in a 46,XX karyotype. However, in those with penta X syndrome, there are a total of five X chromosomes, resulting in a karyotype of 49,XXXXX. The condition is typically characterized by moderate to severe intellectual disability, short stature, upslanting eyelid folds (palpebral fissures), a flat nasal bridge, malformed ears, and a short neck with a low hairline. Penta X syndrome may also be characterized by mild angulation of the fifth finger (pinky) toward the fourth finger (ring finger) (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, heart and/or kidney defects, and deficient development of the ovaries and uterus. The disorder results from random errors during the division of reproductive cells in one of the parents. While the exact incidence of this disorder is unknown, researchers believe it occurs in close to one in 85,000 live births, comparable to the male equivalence (49,XXXXY).", "symptoms": "Penta X syndrome is characteristically associated with growth delays before birth (prenatal growth deficiency), failure to grow and gain weight at the expected rate after birth (failure to thrive), and short stature. In addition, infants and children with penta X syndrome typically have delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor deficits) and are affected by moderate to severe intellectual disability.", "causes": "Penta X syndrome is a chromosomal disorder characterized by the presence of three extra X chromosomes in females. Chromosomes are found in the nucleus of all body cells and carry the genetic characteristics of each individual. There are 46 human chromosomes arranged into 23 pairs, with the 23rd pair determining the sex of the individual. Females with a normal chromosomal make-up (karyotype) have two X chromosomes (46,XX karyotype), receiving one chromosome from the mother and one from the father in each of the 23 pairs.", "affected": "Penta X syndrome is a rare chromosomal disorder that affects only females. Since the syndrome was originally described in 1963 by Kesaree and Wooley, only approximately 40 cases have been reported in the medical literature. The exact incidence of 49,XXXXX is still unknown, however, researchers believe it is close to that of 49,XXXXY (1:85,000).", "related-disorders": "Certain symptoms of the following disorders may be similar to those of penta X syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Penta X syndrome may be suspected upon thorough clinical examination and the detection of characteristic physical findings. However, a diagnosis may be confirmed by chromosomal analysis performed on blood samples that can reveal the presence of three extra X chromosomes in body cells.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1335", "name_zh": "Cantrell五联症", "Name": "Pentalogy of Cantrell", "disease_name": "Pentalogy of Cantrell", "synonyms": "Cantrell deformity", "disease-overview": "Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.", "symptoms": "The specific symptoms and severity of pentalogy of Cantrell can vary dramatically from one person to another. Some infants may have mild defects with incomplete expression of the disorder. Other infants may have serious, life-threatening complications. It is important to note that affected individuals will not necessarily have all of the symptoms discussed below. Parents of caregivers of individuals with this condition should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.", "causes": "The exact cause of pentalogy of Cantrell is unknown. Most cases occur randomly for no apparent reason (sporadically). One theory suggests that the symptoms of pentalogy of Cantrell occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. Several familial cases have been reported, and some researchers have suggested that genetic factors may play a role in the development of the disorder. More research is necessary to determine the exact, underlying cause(s) of pentalogy of Cantrell.", "affected": "Pentalogy of Cantrell affects males and females in equal numbers. The exact prevalence is unknown, but estimated to be 5.5 in 1 million live births. The symptoms of pentalogy of Cantrell are present at birth (congenital).", "related-disorders": "Symptoms of the following disorders can be similar to those of pentalogy of Cantrell. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of pentalogy of Cantrell can often be made before birth (prenatally) sometimes using a fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with pentalogy of Cantrell. An echocardiography is usually performed to evaluate the extent of the involvement of the heart. An echocardiography is an exam that uses sound waves to produce images of the heart", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2880", "name_zh": "磷酸烯醇式丙酮酸羧激酶缺乏症", "Name": "Phosphoenolpyruvate carboxykinase deficiency", "disease_name": "PEPCK Deficiency", "synonyms": "phosphoenolpyruvate carboxykinase deficiency", "disease-overview": "PEPCK deficiency is an extremely rare disorder characterized by episodes of low blood sugar (hypoglycemia). It is a disorder of carbohydrate metabolism caused by a deficiency in the enzyme called phosphoenolpyruvate carboxykinase or PEPCK. This enzyme normally converts proteins and fats to glucose during times of fasting, in a process called gluconeogenesis. The glucose is used as a source of energy by the body. PEPCK deficiency is inherited in an autosomal recessive pattern.", "symptoms": "There are two forms of PEPCK deficiency: PEPCK1 deficiency (cytosolic) and PEPCK2 deficiency (mitochondrial).Both forms represent an inherited deficiency of the PEPCK enzymes. These enzymes are part of a process of converting proteins and fat to glucose (gluconeogenesis) that occurs primarily in the liver. This process is activated when dietary intake of glucose is insufficient, such as fasting or when extra energy is needed, such as during periods of intense exercise. Glucose is essential as the body’s source of energy, and for the functioning of many organs and systems in the body, especially the brain.", "causes": "Changes (variants or mutations) in the PCK1 gene cause the cytosolic (soluble) form of PEPCK deficiency (PEPCK1) and variants in the PCK2 gene cause the mitochondrial form of PEPCK deficiency (PEPCK2). Variants in these genes result in a reduced amount or absence of the PEPCK enzyme.  Researchers think that the severity of disease is based on the amount of residual enzyme activity that remains.", "affected": "PEPCK deficiency is extremely rare. Prior to 2007, only 10 cases were reported in the medical literature. Since then, there have been at least 6 new cases reported for a total of 16 cases of PEPCK deficiency. Males and females are equally affected..", "related-disorders": "Symptoms of the following disorders can be similar to those of PEPCK deficiency disorder. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Patients with fatty acid oxidation disorders such as medium chain acyl-coA dehydrogenase deficiency (MCAD) and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) and glycogen storage disorders can present with hypoglycemia during fasting, and may have abnormal metabolites in urine. (For more information on these disorders, search the Rare Disease Database.)", "therapies": "The mainstay of treatment for PEPCK deficiency is avoidance of fasting. Individuals with this disorder may consume extra carbohydrate such as cornstarch to lower the occurrence of symptoms. This is especially important in the evenings before an overnight fast."}
{"OrphaCode": "ORPHA:595133", "name_zh": "Perivascular epithelioid cell neoplasm", "Name": "Perivascular epithelioid cell neoplasm", "disease_name": "Perivascular Epithelioid Cell Neoplasm", "synonyms": "perivascular epithelioid tumor", "disease-overview": "", "symptoms": "Signs and symptoms of PEComas vary quite a bit between patients and depend on tumor location. Some PEComas cause no symptoms and are found when patients undergo imaging for other reasons.", "causes": "The cause of sporadic cases of PEComas is not known. PEComas may be associated with the genetic condition tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder.", "affected": "PEComas have been found in people of all ages, from children to older adults. Although they often occur in children with TSC, they also occur sporadically in people with no known risk factors.", "related-disorders": "PEComas can be mistaken for other tumors, some of which can be malignant. Different tumors on imaging can appear similar to one another, so a PEComa in one organ may be difficult to distinguish from another tumor that can occur in the same organ.", "diagnosis": "PEComas may be detected by imaging with X-ray, CT scan or MRI. Once a tumor is detected, biopsy is needed to examine the cellular make-up and distinguish it from other types of tumors.", "therapies": "Surgery to remove a localized PEComa that has not spread is currently the recommended form of treatment. Surgery may be curative for patients with benign PEComas, although tumor regrowth can occur. If regrowth occurs, surgery is again recommended to remove the regrowth. Surgery is not usually recommended to remove tumors that have spread (metastasized) to other parts of the body. Instead, medical treatment is usually recommended."}
{"OrphaCode": "ORPHA:2855", "name_zh": "Perrault综合征", "Name": "Perrault syndrome", "disease_name": "Perrault Syndrome", "synonyms": "gonadal dysgenesis, XX type, with deafness", "disease-overview": "Perrault syndrome is a rare genetic disorder which causes sensorineural hearing loss in both males and females and ovarian dysfunction in females. Only about 100 cases have been reported, mostly in females. Hearing loss is present at birth or early childhood and may be progressive, but the disease is usually diagnosed in females in early adulthood due to a late puberty. In females, the ovaries do not function normally to begin puberty despite having an otherwise normal set of chromosomes (46,XX karyotype). Male fertility is normal, but females may not be able to conceive naturally, depending on the severity. A diagnosis is usually made after imaging shows a uterus but no functional ovaries and the karyotype of 46,XX.", "symptoms": "The most common symptoms of Perrault syndrome include:", "causes": "Perrault syndrome is caused by changes (mutations) in six genes: CLPP, ERAL1, HARS2, HSD17B4, LARS2, or TWNK. Mutations in one of these genes have been identified in about 40% of patients. The cause is unknown in the other 60% of patients.", "affected": "Fewer than 100 cases of Perrault syndrome have been diagnosed, making it extremely rare (<1 in 1 million). A family history of this disease is the greatest known risk, particularly if the genetic mutation is identified.", "related-disorders": "Turner syndrome – also causes ovarian dysfunction but affected females have a 45,XO karyotype", "diagnosis": "The diagnosis of Perrault syndrome is based on the early hearing loss and ovarian dysfunction in females with a normal 46,XX set of chromosomes. Genetic testing for mutations in the six known causative genes can help to confirm the diagnosis, but more commonly the exact cause will be unknown. Since males with Perrault syndrome tend to only experience hearing loss, they may not receive a diagnosis unless they also have a sister with Perrault syndrome.", "therapies": "There is no cure for Perrault syndrome and treatment focuses on remedying the symptoms of hearing loss, hormone imbalance and infertility. Depending on the severity of hearing loss, an audiologist or ENT physician may recommend hearing aids, cochlear implants or vibrotactile devices. Routine hearing checks are important to determine if the hearing loss is getting worse."}
{"OrphaCode": "ORPHA:1489", "name_zh": "百日咳", "Name": "Whooping cough", "disease_name": "Pertussis", "synonyms": "Whooping Cough", "disease-overview": "Pertussis is a highly contagious acute respiratory disease caused by the bacteria Bordetella pertussis. This disease has 3 stages: catarrhal, paroxysmal, and convalescent. The symptoms of the catarrhal stage are mild and may go unnoticed. The paroxysmal stage of Pertussis is characterized by episodes of coughing with a distinctive whooping sound when breathing in (inspiration). This characteristic cough gives the disease its common name, Whooping Cough. During the convalescent stage, episodes of coughing are less frequent and symptoms improve. The incidence of Pertussis has diminished greatly with widespread use of the DPT vaccine (Diphtheria Pertussis Tetanus), but in certain areas of the United States outbreaks have occurred periodically in recent years.", "symptoms": "Pertussis is a highly contagious disease that typically lasts for approximately 6 to 10 weeks. The symptoms are more severe in infants or in individuals who have never been immunized against the disease. There are three recognized stages of the disease: catarrhal, paroxysmal, and convalescent.", "causes": "Pertussis is an infectious disease caused by the gram-negative coccobacillus, Bordetella pertussis. Pertussis is a highly contagious disease via droplets in the air from the respiratory tract of infected individuals. Transmission occurs during the catarrhal stage and during the first 2 to 3 weeks of the paroxysmal phase.", "affected": "Pertussis occurs most frequently and severely in young children. Adolescents and adults tend to experience much less severe symptoms, and sometimes the disease may not even be recognized as Pertussis. For reasons that are not fully understood, slightly more females than males are affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of Pertussis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acute Bronchitis is a common respiratory disease characterized by inflammation of the bronchi and bronchial tubes. Symptoms may include a persistent cough accompanied by abundant mucous discharge (sputum), fever, and/or back pain. Bronchitis is caused by the spread of an upper respiratory infection into the bronchi and may occur along with other diseases such as measles, pertussis, and/or diphtheria.", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:2869", "name_zh": "Peutz-Jeghers综合征", "Name": "Peutz-Jeghers syndrome", "disease_name": "Peutz Jeghers Syndrome", "synonyms": "PJS", "disease-overview": "", "symptoms": "PJS is characterized by the growth of multiple benign polyps called hamartomas on the mucous lining of the gastrointestinal system and spots of dark blue to dark brown skin freckling (melanocytic macules) around the mouth, eyes, nostrils, fingers, oral mucosa and anus (perianal). These melanocytic macules can appear as early as the first year of life and are present in most affected children under five years of age. They tend to fade away with age and might completely disappear in puberty or adulthood, although they tend to persist in the oral mucosa. Polyps also begin to grow within the first years of life, but associated symptoms typically arise between 10 to 30 years of age. Around half of patients with PJS have to undergo surgery by age 18 because of polyps-related complication. Polyps most often tend to develop in the small intestine (in the jejunum, specifically) but can also arise in the stomach and large intestine. Rarely, polyps can grow outside the gastrointestinal tract and affect the ureters, bladder, lungs, bronchi, and gallbladder. Gastrointestinal polyps can cause abdominal pain, vomiting, diarrhea, intestinal obstruction and rectal bleeding, which can lead to anemia. They can also provoke folding of the intestine into itself (intussusception), which can lead to severe abdominal pain and emergency surgery.", "causes": "Peutz Jeghers syndrome is an autosomal dominant genetic condition caused by mutations in the STK11/LKB1 gene. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (de novo) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.", "affected": "Peutz Jeghers syndrome is a rare disorder that affects males and females in equal numbers and can occur in any racial or ethnic group. The birth prevalence of PJS is estimated to be between 1/50,000 and 1/200,000. Limited evidence shows that the disease might be more prevalent in certain countries such as the Netherlands and China. Women are at a higher risk of developing cancer compared to men, as PJS increases the likelihood of developing breast, ovarian, cervical, and uterine cancer.", "related-disorders": "Symptoms of the following disorders can be similar to those of Peutz-Jeghers syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A clinical diagnosis of Peutz Jeghers syndrome can be made when any one of the following criteria is present:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:710", "name_zh": "Pfeiffer综合征", "Name": "Pfeiffer syndrome", "disease_name": "Pfeiffer Syndrome", "synonyms": "acrocephalosyndactyly, type V", "disease-overview": "Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss. Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious.", "symptoms": "Infants with Pfeiffer syndrome type I have craniosynostosis that causes the head to appear short and tall (turribrachycephaly). Additional features may include a high, full forehead; underdeveloped midfacial regions (midface hypoplasia); widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), with a prominent lower jaw; and dental abnormalities. Intelligence is usually normal. There is usually some degree of hearing loss, which is more commonly conductive rather than sensorineural.", "causes": "Pfeiffer syndrome type I is associated with variants in FGFR1 and FGFR2. Pfeiffer syndrome type II and type III are associated with variants in FGFR2.", "affected": "The incidence of all types of Pfeiffer syndrome is approximately 1/100,000.", "related-disorders": "Apert syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, intellectual disability may also be present. Babies born with Apert syndrome have fibrous joints between bones of the skull (sutures) that close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates creates changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate). Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail (mitten-like syndactyly). Apert syndrome is an autosomal dominant genetic condition associated with variants in FGFR2. (For more information on this disorder, choose Apert as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of Pfeiffer syndrome is based on clinical findings. Molecular genetic testing for FGFR1 and FGFR2 gene variants is available if the diagnosis is uncertain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:42775", "name_zh": "PHACE综合征", "Name": "PHACE syndrome", "disease_name": "PHACE Syndrome", "synonyms": "Pascual-Castroviejo type II syndrome", "disease-overview": "", "symptoms": "Although researchers have been able to establish diagnostic criteria with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the relatively small number of identified cases, the lack of large clinical studies, and the possibility of multiple genes influencing the phenotype prevent physicians from developing a one size fits all description of PHACE and its prognosis. Therefore, it is important to note that every person is unique and that most affected individuals will not have all of the symptoms discussed below.", "causes": "The exact cause of PHACE syndrome is unknown. It appears to occur randomly (sporadically) for no known reason. There have not been reports of the disorder occurring in multiple members of the same family.", "affected": "PHACE syndrome affects more females than it does males, although researchers are not exactly sure why this is the case. It has been described affecting many different ethnic groups. The exact incidence or prevalence of the disorder is unknown. Rare disorders often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of PHACE syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of PHACE syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. There are consensus-based diagnostic criteria that have been established by medical experts for PHACE syndrome. These were first published in 2009 (Garzon et al.) and updated in 2016 (Metry et al.). These diagnostic guidelines break down the symptoms of PHACE syndrome into major and minor criteria. A diagnosis is based on the presence of a hemangioma of the head or scalp that is greater than 5 centimeters in diameter (about 2 inches) that occurs along with one major or two minor criteria or the presence of a hemangioma of the neck, upper trunk or trunk and proximal upper extremity plus two major criteria.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:163693", "name_zh": "2p21 微缺失综合征", "Name": "2p21 microdeletion syndrome", "disease_name": "Phelan-McDermid Syndrome", "synonyms": "22q13 deletion syndrome", "disease-overview": "Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing (pathogenic) variant of the SHANK3 gene.", "symptoms": "Most infants with PMS exhibit normal growth before birth (intrauterine growth) with normal growth after birth (postnatally). The first physical sign associated with PMS is neonatal hypotonia (low muscle tone) which is often accompanied by feeding difficulties, weak cry and poor head control. Children also experience a significant delay in reaching early developmental milestones, such as rolling over, sitting, crawling and walking; this delay is likely associated with low muscle tone. These are often the first noticeable symptoms that prompt families to start their diagnostic journey.", "causes": "PMS is caused by the deletion or disruption of the segment of the long arm (q) of chromosome 22 that is identified as 22q13. Chromosomes are found in the nucleus of all body cells. They carry the genetic information for the growth and development of each individual. Pairs of human chromosomes include the autosomes, numbered from 1 to 22, and the sex chromosomes, X and Y. Females have two X chromosomes while males have one X and one Y chromosome. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into numbered bands. Therefore, chromosome 22q13 refers to band 13 on the long arm (q) of chromosome 22.", "affected": "Deletion of 22q13 was initially described in the medical literature in 1985. Since that time, increased understanding through scientific research, advances in genetic testing and advocacy have led to approximately 3,000 members in the Phelan-McDermid Syndrome Foundation as of 2022. Males and females are equally likely to be affected. Based on limited statistical analysis, the occurrence rate has been estimated to fall in the range of 2.5-10 per million births, although this is likely to be a gross underestimate. Due to the subtle appearance of the deletion of chromosome 22 and the relatively mild physical features of affected individuals, diagnosis of PMS is often difficult. Prior to the advent of CMA testing, over 30% of individuals with this deletion required two or more chromosome studies before the deletion was detected. It is likely that there are many older individuals who had normal chromosome studies at an earlier age but who actually carry this subtle chromosome abnormality or pathogenic variant of SHANK3. Unless these individuals are studied by CMA testing or NGS, their diagnosis will remain a mystery.", "related-disorders": "Autism spectrum disorders (ASD) refer to a wide range of conditions characterized by impaired social interaction and communication. Individuals with ASD may or may not have intellectual disability (ID). Genetic testing for ASD often consists of a CMA and/or a targeted gene panel that includes SHANK3. This testing will distinguish most cases of PMS from non-syndromic autism.", "diagnosis": "The diagnosis of PMS is based on genetic testing for the identification of a deletion or disruption of the chromosome region 22q13. The first tier of genetic testing for individuals with intellectual disability or developmental delay includes chromosomal microarray analysis (CMA) and next generation sequencing (NGS).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:716", "name_zh": "苯丙酮尿症", "Name": "Phenylketonuria", "disease_name": "Phenylketonuria", "synonyms": "classical phenylketonuria", "disease-overview": "Phenylketonuria (PKU) is an inborn error of metabolism that can be diagnosed during the first days of life with routine newborn screening. PKU is characterized by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine. Amino acids are the chemical building blocks of proteins and are essential for proper growth and development. With normal PAH activity, phenylalanine is converted to another amino acid, tyrosine. However, when PAH is absent or deficient, phenylalanine accumulates and is toxic to the brain. Without treatment, most people with PKU would develop severe intellectual disability. To prevent intellectual disability, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life.", "symptoms": "Infants with PKU typically appear normal at birth. With early screening and dietary treatment, affected individuals may never show symptoms of PKU. However, untreated newborns not diagnosed in the first days of life may be weak and feed poorly. Other symptoms may include vomiting, irritability and/or a red skin rash with small pimples. Developmental delay may be obvious at several months of age. The average IQ of untreated children is usually less than 50. Intellectual disability in PKU is a direct result of elevated levels of phenylalanine in the brain which causes the destruction of the fatty covering (myelin) of individual nerve fibers. It can also cause depression by reducing brain levels of dopamine and serotonin (neurotransmitters).", "causes": "PKU is caused by changes (variants) in the PKU gene. More than 300 different disease-causing variants in the PKU gene have been identified. Because the different variants result in varying degrees of PAH enzyme activity, and therefore varying degrees of phenylalanine elevation in blood, the diet of each child must be adjusted to the individual’s specific phenylalanine tolerance.", "affected": "The reported incidence of PKU from newborn screening programs ranges from one in 13,500 to 19,000 newborns in the United States. PKU affects people from most ethnic backgrounds, although it is rare in Americans of African descent and Jews of Ashkenazi ancestry.", "related-disorders": "Phenylalanine hydroxylase (PAH) deficiency is the term used to describe a disease spectrum. The most severe condition in the spectrum is classic PKU. Hyperphenylalaninemia is the term used to describe people who have phenylalanine levels on an unrestricted diet that are above normal but below 1,200 μmol/L (20 mg/dL). These people have a much lower risk for intellectual disability without treatment.", "diagnosis": "PKU can be diagnosed with routine newborn screening by measuring an elevated level of phenylalanine (concentrations above 1,200 μmol/L (20 mg/dL) on a blood spot. PKU can also be diagnosed with molecular genetic testing that shows two disease-causing variants in the PKU gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:713", "name_zh": "磷酸甘油酸激酶缺乏所致糖原贮积病", "Name": "Phosphoglycerate Kinase Deficiency", "disease_name": "Phosphoglycerate Kinase Deficiency", "synonyms": "anemia, hemolytic with PGK deficiency", "disease-overview": "Phosphoglycerate kinase deficiency is an extremely rare inherited metabolic disorder characterized by deficiency of the enzyme phosphoglycerate kinase. This enzyme is essential for the breakdown of glycogen, resulting in the release of energy. Symptoms and findings associated with the disorder may include low levels of circulating red blood cells (hemolytic anemia); varying degrees of intellectual disability; rapidly changing emotions (emotional liability); an impaired ability to communicate through and/or to comprehend speech or writing (aphasia); exercise-induced pain, stiffness, or cramps; enlargement of the spleen (splenomegaly); and/or paralysis of one side of the body (hemiplegia). In most cases, phosphoglycerate kinase deficiency is inherited as an X-linked genetic trait. In such cases, the disorder is fully expressed in males only; however, some females who carry one copy of the disease gene (heterozygotes) may have hemolytic anemia.", "symptoms": "The three main features of phosphoglycerate kinase deficiency are hemolytic anemia, intellectual disability, and muscle problems (myopathy). An individual with the disorder may be affected by one or more of these features, but it is unusual for one person to exhibit all three signs.", "causes": "PGK is considered to be an inborn error of metabolism that is inherited in an X-linked manner. The gene responsible is located on the X chromosome (Xq13).", "affected": "Phosphoglycerate kinase deficiency is a very rare disorder that is fully expressed in males only. However, females who carry a single copy of the disease gene (heterozygous carriers) may exhibit some symptoms associated with the disorder (i.e., hemolytic anemia). The disorder can be diagnosed at birth when enzymatic testing is done. More than 30 cases of PGK deficiency have been written up in the medical literature. It is thought that there are people with the disease who do not receive a diagnosis.", "related-disorders": "Symptoms of the following disorders can be similar to those of phosphoglycerate kinase deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Warm antibody hemolytic anemia is an autoimmune disorder characterized by the premature destruction of red blood cells by the body’s natural defenses against invading organisms (antibodies). The severity of the anemia is determined by the amount of time the red blood cells survive. (For more information on this disorder, choose Warm Antibody, Hemolytic Anemia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3104", "name_zh": "罗宾序列-少指畸形综合征", "Name": "Pierre Robin Sequence", "disease_name": "Pierre Robin Sequence", "synonyms": "glossoptosis, micrognathia, and cleft palate", "disease-overview": "", "symptoms": "PRS involves physical changes during development that lead to altered oral cavity anatomy. Since air and food both pass through the mouth and down the throat, breathing and feeding problems are common.", "causes": "At present, the exact cause of PRS is unknown. The most widely held view is that multiple contributing factors lead to a sequence of physical changes within the oral cavity. These changes are thought to occur in a series of steps, rather than as isolated events. Specifically, it is believed that failure of the lower jaw to fully develop early in gestation causes the tongue to be positioned toward the back and high up in the mouth cavity, which, in turn, prevents palate closure.", "affected": "PRS affects males and females in equal numbers, with an estimated prevalence of about 1 in 8,500-14,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to, or may be associated with, PRS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "PRS can be detected while the fetus is still in the womb. Trained medical personnel may visualize characteristic features of PRS using ultrasound imaging. If not diagnosed previously, craniofacial abnormalities are typically detected at birth on physical exam. Infants with severe airway obstruction may present with respiratory distress at birth, and may require medical intervention.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:530313", "name_zh": "PIK3CA基因相关生长过度综合征", "Name": "PIK3CA-related overgrowth syndrome", "disease_name": "PIK3CA-Related Overgrowth Spectrum", "synonyms": "PROS", "disease-overview": "", "symptoms": "Different subtypes within PROS include: CLAPO syndrome, CLOVES syndrome, DCMO, DMEG, FAH/FAO/HHML, FAVA, FIL, HMEG, Klippel-Trenaunay syndrome (KTS), LON, macrodactyly, MCAP and muscular hemihyperplasia (HH). Symptoms vary widely and depend on which part of the body overgrows, ranging from intellectual disability, seizures and autism when the brain is involved to blood clots when blood vessels are affected. Some PROS syndromes affect a wider range of body systems while others are more limited in which parts of the body overgrow.", "causes": "PROS is caused by somatic mutations in the PIK3CA gene. There are a variety of activating mutations of the PIK3CA gene associated with each syndrome with some genetic overlap between the different syndromes.", "affected": "Because PROS includes several different syndromes, the exact incidence and prevalence rates are not known. These syndromes are typically diagnosed at birth or in early childhood. Many syndromes such as MCAP, CLOVES and KTS affect males and females in equal numbers.", "related-disorders": "Proteus syndrome is a rare disorder characterized by asymmetric, patchy overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1 instead of PIK3CA as in PROS. (For more information on this disorder, choose Proteus Syndrome as your search term in the Rare Disease Database).", "diagnosis": "Diagnosis of PROS is based on genetic testing for PIK3CA genetic variants. Testing for somatic conditions includes biopsy of tissue affected by overgrowth. Detection of a PIK3CA mutation in biopsied tissue may be difficult because these mutations are detected at widely varying levels in affected cells and tissues.", "therapies": "Treatment depends on symptoms present for each syndrome and, for those patients with multiple features, requires collaboration between an interdisciplinary team of physicians and specialists."}
{"OrphaCode": "ORPHA:2896", "name_zh": "皮特-霍普金斯综合征", "Name": "Pitt-Hopkins Syndrome", "disease_name": "Pitt-Hopkins Syndrome", "synonyms": "PTHS", "disease-overview": "", "symptoms": "With the publication of an increasing number of case series we are developing a better picture of associated symptoms and prognosis of individuals with Pitt-Hopkins syndrome. However, much about the disorder is not fully understood. It is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Pitt-Hopkins syndrome is caused by an unexpected change (mutation) in the TCF4 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain. The TCF4 gene creates a protein that is a transcription factor. This protein has an important role in various developmental processes of the body. It is highly expressed early during human development and is found throughout the central nervous system.", "affected": "Pitt-Hopkins syndrome affects both males and females and can affect individuals of any ethnic or racial background. The exact incidence of the disorder is unknown. Approximately 500 affected individuals have been identified worldwide. Researchers believe that affected individuals often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency the disorder in the general population. Intellectual disability (due to all causes) affects approximately 1%-3% of the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Pitt-Hopkins syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Pitt-Hopkins syndrome depends upon a detailed patient history, a thorough clinical evaluation, and identification of characteristic symptoms. There is overlap among symptoms associated with Pitt-Hopkins syndrome and other similar neurological disorders. The lack of major congenital malformations, which are structural or functional abnormalities that are present at birth, supports a diagnosis, which can generally be confirmed by molecular testing demonstrating a specific change (mutation) or deletion involving the TCF4 gene. This gene is often included on gene panels that can be ordered for individuals with features of Pitt-Hopkins/Rett/Angelman syndromes. There are individuals with clinical features that can’t be distinguished from Pitt-Hopkins syndrome for which no mutation in TCF4 can be found, and some individuals with variants in TCF4 with a phenotype differing from Pitt-Hopkins syndrome. Diagnostic criteria have been published based on published cases, but are being redefined as more molecularly confirmed cases have been identified.", "therapies": "Treatment is directed toward the specific symptoms that are apparent in each individual and generally requires a team of specialists, that can be coordinated by a medical geneticist or your pediatrician. Members of this team may include a pediatric neurologist (a physician who specializes in the diagnosis and treatment of disorders of the brain, nerves and nervous system in children), a gastroenterologist (a physician who specializes in the diagnosis and treatment of disorders of the gastrointestinal tract), an ophthalmologist (a physician who specializes in the diagnosis and treatment of disorders of the eye), a pulmonologist (a physician who specializes in the diagnosis and treatment of disorders of the lungs and breathing issues), a speech pathologist, psychologist, and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. Genetic counseling is of benefit for affected individuals and their families. Psychosocial support for the entire family is essential as well."}
{"OrphaCode": "ORPHA:2897", "name_zh": "毛发红糠疹", "Name": "Pityriasis Rubra Pilaris", "disease_name": "Pityriasis Rubra Pilaris", "synonyms": "Devergie disease", "disease-overview": "", "symptoms": "The terms sign and symptom are not redundant. SIGN is an indication of a medical condition that can be objectively observed by others, including healthcare professionals. In contrast, a SYMPTOM is subjective, information that is shared by the PRP patient with the healthcare provider such as pain, itching, fatigue. The following is a list of signs and symptoms that define PRP.", "causes": "The specific underlying cause of PRP is unknown, although a combination of a genetic predisposition, environmental trigger, and other unknown causes is believed to play key roles. Vitamin A deficiency was once believed to be related to the disorder, however, this theory lacks sufficient evidence and treatment with Vitamin A has been less than effective.36, 38", "affected": "Based on conversations within the PRP community, we can say with metaphysical certitude that PRP isn’t a punishment for misbehavior or forgetting to put the toilet seat down. There are thousands of perfectly wonderful people who have — or had — PRP. Moreover, there are many very bad people who don’t have it. Who then gets the short end of this rare disease stick?", "related-disorders": "Symptoms of the following disorders can be similar to those of pityriasis rubra pilaris. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Psoriasis: According to the National Psoriasis Foundation (NPF), Psoriasis is an immune-mediated disease that causes raised, red, scaly patches to appear on the skin. It typically affects the outside of the elbows, knees or scalp, though it can appear on any location. Some people report that psoriasis is itchy, burns and stings. Psoriasis is associated with other serious health conditions, such as diabetes, heart disease and depression. More information is available at the NPF website.26", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:329303", "name_zh": "PLA2G6基因相关神经退行性变", "Name": "PLA2G6-associated neurodegeneration", "disease_name": "PLA2G6-Associated Neurodegeneration", "synonyms": "PLAN", "disease-overview": "", "symptoms": "INAD", "causes": "INAD and other forms of PLAN are inherited in an autosomal recessive pattern. Variants of the PLA2G6 gene cause PLAN.", "affected": "PLAN is an extremely rare genetic disorder, and the incidence and prevalence are not known with any certainty. It is estimated to occur in about 1-2/million children.", "related-disorders": "Symptoms of the following disorders may be similar to those of PLAN. Comparisons may be useful while investigating diagnoses.", "diagnosis": "PLAN is diagnosed by means of a thorough clinical evaluation, brain MRI, a detailed history, and a variety of specialized tests including molecular genetic testing to sequence the PLA2G6 gene. A diagnosis of PLAN is confirmed by finding two changes in the PLA2G6 gene that are predicted to affect how it works or have been documented in other patients with PLAN. If no gene variant or only one gene variant is found through sequencing analysis of the PLA2G6 gene, then genetic testing may proceed to deletion/duplication analysis. This looks for large pieces of the gene that may be extra or missing, which sequencing can miss. Among individuals who go forward with deletion/duplication analysis, a gene change may be found in ~ 12.5 % of patients.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:707", "name_zh": "鼠疫", "Name": "Plague", "disease_name": "Plague", "synonyms": "Black Death", "disease-overview": "Plague is an acute, severe infectious disease caused by the bacterium Yersinia pestis. The bacterium is found in fleas and wild rodents such as rats, squirrels, chipmunks or prairie dogs. Plague is a zoonotic disease, which means it can be transmitted to humans through animals, most often through the bites of fleas or through direct contact with infected animal tissue. The disease is most common in parts of Africa, Asia and South America, but it also occurs in some areas of the western United States. Symptoms can include an abrupt onset of chills, fever, and enlarged, painful lymph nodes (buboes). Most cases of plague resolve with effective treatment, though treatment must be started immediately to avoid life-threatening complications. Although plague is extremely rare in the United States, interest in the infection has heightened in recent years because of its potential use as an agent of biological warfare.", "symptoms": "The symptoms of plague vary greatly depending upon the specific form that develops. The main clinical forms of plague are bubonic, septicemic, and pneumonic.", "causes": "Plague is caused by infection with the bacterium Yersinia pestis. This bacterium is found in wild rodents and their fleas. Some of the most commonly infected rodents are rats, squirrels, chipmunks or prairie dogs. Rabbits and hares (lagomorphs) may also carry the bacteria. The disease is most often transmitted to humans by the bite of infected fleas. Less frequently, direct contact with infectious animal tissue can also result in infection.", "affected": "Plague affects both males and females of all ages; however, historically it is slightly more common among men. Men may be more likely to become infected with plague because they are more likely to engage in outdoor activities that put them at risk (https://www.cdc.gov/plague/maps/index.html). Seven human plague cases are reported on average in the United States each year. Most cases in the United States occur in the Western and Southwestern part of the country, especially in New Mexico, Colorado, Arizona and California (https://www.cdc.gov/plague/maps/index.html). Plague has a scattered worldwide distribution. Most cases occur in sub-Saharan Africa, but plague still occurs on most continents. Historically, plague has caused massive pandemics most notably the Black Death of the Middle Ages.", "related-disorders": "Symptoms of the following disorders can be similar to those of the plague. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of plague may be confirmed by specialized laboratory tests in addition to characteristic clinical findings. Yersinia pestis can be identified in blood samples, tissue taken from enlarged lymph nodes (buboes) and sputum. All suspected cases of plague in the United States must be reported to the appropriate local and/or state health department, which in turn notifies the Centers for Disease Control and Prevention (CDC).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64742", "name_zh": "胸膜肺母细胞瘤", "Name": "Pleuropulmonary Blastoma", "disease_name": "Pleuropulmonary Blastoma", "synonyms": "cystic mesenchymal hamartoma", "disease-overview": "", "symptoms": "Two different sets of symptoms are found in children with PPB, based generally on the child’s age and the type of PPB:", "causes": "Sometimes PPB occurs without any other conditions in the individual or family. PPB may also be an indication of an underlying variation in a gene called DICER1 (see Related Disorders).", "affected": "PPB occurs in boys and girls approximately equally. Children under the age of 7-8 years are most often affected, but rarely teenagers or young adults may be diagnosed with PPB. Other conditions sometimes associated with PPB may be seen in individuals throughout the life span (see Related Disorders).", "related-disorders": "Individuals with PPB may have variants in the DICER1 gene. When a gene variant alters the function of the gene, there is an increased risk for PPB and a variety of other conditions including lung cysts, kidney cysts or tumors, ovarian tumors in children or adults, thyroid nodules or cancers, certain childhood brains and rarely, tumors in the eye or nose/sinuses. All of these are in the DICER1– related spectrum of diseases and conditions. It should be emphasized that many children and adults in these families have no medical problems.", "diagnosis": "When a child presents with symptoms of PPB, a chest X-ray may show an air-filled pocket (cyst) or a solid mass. Chest CT may be performed to look at the lungs in more detail. Surgery, either a biopsy or removal of the cyst or mass, is performed to diagnose and often remove the tumor. Microscopic examination of the specimen is needed. Review by the International PPB/DICER1 Registry pathology specialists may be helpful in confirming the diagnosis. This is offered at no cost to families or hospitals.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79318", "name_zh": "先天性糖基化障碍1a型", "Name": "PMM2-CDG", "disease_name": "PMM2-CDG", "synonyms": "carbohydrate-deficient glycoprotein syndrome, type Ia", "disease-overview": "", "symptoms": "In order to help characterize and clarify this disorder, researchers have divided PMM2-CDG into three stages. These stages are based upon the symptoms at different periods of life. They are: the infantile multisystem stage; the late-infantile and childhood ataxia-intellectual disability stage; and the adult stable disability stage.", "causes": "PMM2-CDG is caused by mutations of the PMM2 gene and is inherited as an autosomal recessive genetic trait. The malfunctioning PMM2 gene has been tracked to gene map locus chromosome 16p13.3-p13.2.", "affected": "PMM2-CDG is the most common of a growing family of more than 100 extremely rare inherited metabolic disorders. More than 800 cases of this specific disorder have been reported worldwide. Two other disorders in this family are each represented by more than 20 cases. The remaining disorders in this family have fewer than 20 cases with several earning a place in the medical literature based on the report of one or two cases. The exact incidence and prevalence of these disorders in the general population is unknown. It is difficult to determine the true frequency of PMM2-CDG in the general population since the disorder may still be under-recognized and under-diagnosed in many parts of the world.", "related-disorders": "Symptoms of the following disorders can be similar to those of PMM2-CDG. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of PMM2-CDG may be suspected based upon the identification of characteristic symptoms, a detailed patient history and a thorough clinical evaluation. A variety of specialized tests may be necessary to confirm a diagnosis of PMM2-CDG.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2905", "name_zh": "POEMS综合征", "Name": "POEMS syndrome", "disease_name": "POEMS Syndrome", "synonyms": "Crow-Fukase syndrome", "disease-overview": "", "symptoms": "POEMS syndrome is a rare, multisystem paraneoplastic syndrome. POEMS stands for some of the major signs and symptoms associated with the disease. The major criteria for POEMS syndrome include polyneuropathy, monoclonal gammopathy and either osteosclerotic lesion, Castleman disease, or elevated levels of vascular endothelial growth factor (VEGF) in addition to at least one minor criterion listed below.", "causes": "The exact cause of POEMS syndrome is unknown. POEMS syndrome is associated with an overproduction of molecules that promote inflammation through cell-to-cell communication (pro-inflammatory cytokines). Studies have demonstrated abnormally high levels of vascular endothelial growth factor (VEGF) and pro-inflammatory cytokines, interleukin-6, interleukin-1 and TNF-alpha in the blood of individuals with POEMS syndrome. Cytokines are proteins that are produced by the body’s immune system in response to inflammation. More research is needed to determine the exact role cytokines and VEGF play in the development of POEMS syndrome.", "affected": "POEMS syndrome affects 1.5 times more men than women, and disease onset usually occurs during a patient’s 40s to 60s. POEMS syndrome often goes unrecognized, making it difficult to determine the number of people afflicted with the disease.", "related-disorders": "Symptoms of the following disorders can be similar to those of POEMS syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare neurological disorder in which there is swelling of nerve roots and peripheral nerves as well as destruction of the fatty protective covering (myelin sheath) of the nerves. This disorder causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs. Sensory loss may also be present causing numbness, tingling or prickling sensations in affected areas. The motor and sensory impairments are usually on both sides of the body (symmetrical) and the degree of severity and disease course may vary. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and relapse. A distinct feature of CIDP is that most patients cannot identify a preceding viral infection or illness. (For more information on this disorder, choose chronic inflammatory demyelinating polyneuropathy as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2911", "name_zh": "Poland综合征", "Name": "Poland syndrome", "disease_name": "Poland Syndrome", "synonyms": "Poland Anomaly", "disease-overview": "Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. However, it is classically characterized by absence (aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed fingers (symbrachydactyly) of the hand on the same side (ipsilateral).", "symptoms": "Associated symptoms and findings are extremely variable, including in rare cases in which more than one family member has been affected. For example, in some reported cases, one sibling has had all major features of the condition, while the other sibling has had only absence of pectoral muscle or hand involvement.", "causes": "According to reports in the medical literature, an overwhelming majority of cases appear to occur randomly for unknown reasons (sporadically) in the absence of a family history. However, in some very rare cases, familial patterns have been reported, including occurrence of the condition in a parent and child and in siblings born to unaffected parents. Some researchers suggest that apparently familial cases may result from inherited susceptibility to a certain event or anomaly (such as early interruption of blood flow) that may predispose to the syndrome (see directly below).", "affected": "Poland Syndrome was named for the investigator (Poland A) who initially described the condition in 1841. According to reports in the medical literature, Poland Syndrome appears to be three times as common in males as females. Estimates of its incidence have ranged from approximately one in 10,000 to one in 100,000 individuals. (Incidence refers to the number of new cases in a particular period.)", "related-disorders": "Symptoms of the following disorders may be similar to those of Poland Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Several investigators have reported cases in which the features of Poland Syndrome occur in association with Moebius Syndrome. Known as Poland-Moebius Syndrome, such cases are characterized by facial paralysis due to impairment of the sixth and seventh cranial nerves (i.e., Moebius Syndrome) associated with the chest wall defects and/or hand malformations (symbrachydactyly) typically seen in Poland Syndrome. Moebius Syndrome may be characterized by a masklike, expressionless face; inability to conduct certain eye movements; drooping of the upper eyelids (ptosis); underdevelopment and/or limited mobility of the tongue; poor sucking and swallowing; and speech impairment. Additional features may include a deformity in which the foot is twisted out of shape or position (clubfoot); various other limb defects; mild mental retardation; and/or other abnormalities. Moebius Syndrome typically appears to occur randomly for unknown reasons (sporadically). As mentioned above (see Causes), some investigators suggest that the condition may result from early disruption of blood flow through particular arteries during embryonic development (i.e., Subclavian Artery Supply Disruption Sequence). (For more information on this condition, choose Moebius as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:767", "name_zh": "结节性多动脉炎", "Name": "Polyarteritis nodosa", "disease_name": "Polyarteritis Nodosa", "synonyms": "PAN", "disease-overview": "Polyarteritis nodosa is a rare multi-system disorder characterized by widespread inflammation, weakening, and damage to small and medium-sized arteries. Blood vessels in any organ or organ system may be affected, including those supplying the kidneys, heart, intestine, nervous system, and/or skeletal muscles. Damage to affected arteries may result in abnormally increased blood pressure (hypertension), ballooning (aneurysm) of an arterial wall, the formation of blood clots (thrombosis), obstruction of blood supply to certain tissues, and/or tissue damage and loss (necrosis) in certain affected areas.", "symptoms": "Polyarteritis nodosa mainly affects small and medium-sized arteries.  Blood vessels in any organ or organ system may be affected, including arteries supplying the kidneys, heart, intestine, nervous system, and/or skeletal muscles.  Damage to affected arteries may result in abnormally increased blood pressure (hypertension), ballooning (aneurysm) of an arterial wall, the formation of blood clots (thrombosis), obstruction of blood supply to certain tissues, and/or tissue damage and loss (necrosis) in certain affected areas. Joint, muscle, abdominal and testicular pain may occur.  The small and medium-sized arteries of the kidneys are most often involved.  The lungs are much less commonly affected.", "causes": "The exact cause of polyarteritis nodosa is not known.  In the majority of patients no predisposing cause has been found.  Unidentified bacterial and/or viral infections may be a cause.  Polyarteritis nodosa has been observed in drug abusers, particularly those using amphetamines, and in patients with hepatitis B (infection of the liver).  (For more information on this disorder, choose Hepatitis B as your search term in the Rare Disease Database.)  This disorder has also been linked to an allergic reaction to some drugs and vaccines.", "affected": "Polyarteritis nodosa usually affects people between 40 and 50 years of age, but it may occur in any age group.  It affects approximately 1 in 100,000 people. Men appear to be affected two to three times more often than women.", "related-disorders": "Symptoms of the following disorders can be similar to those of polyarteritis nodosa.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Microscopic polyangiitis (formerly known as microscopic polyarteritis) can have inflammation of arteries that is clinically and pathologically indistinguishable from polyarteritis nodosa, but, unlike polyarteritis nodosa, this form of systemic vasculitis also has inflammation of vessels smaller than arteries, including arterioles, capillaries and venules. This small vessel involvement often involvers the venules in the skin (causing hemorrhage called purpura), capillaries in the lungs (causing pulmonary hemorrhage) and capillaries in the filters of the kidneys (causing glomerulonephritis).  Microscopic polyangiitis is closely related to Wegener’s granulomatosis and Churg-Strauss syndrome; and all three are associated with anti-neutrophil cytoplasmic autoantibodies (ANCA) in the blood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2924", "name_zh": "孤立型多囊肝病", "Name": "Isolated polycystic liver disease", "disease_name": "Polycystic Liver Disease", "synonyms": "isolated polycystic liver disease", "disease-overview": "", "symptoms": "Polycystic liver disease is characterized by the growth of more than 10 cysts in the liver, ranging in size from a few millimeters to over 15 cm in diameter. Symptoms usually begin to show in the third decade, as cysts grow and increase in number with age. Some people begin to have symptoms in early adulthood, but many affected individuals do not have symptoms. The growth and accumulation of cysts can cause enlargement of the liver (hepatomegaly) and compression of adjacent anatomical structures, leading to abdominal pain and discomfort, shortness of breath (dyspnea), indigestion (dyspepsia), gastro-esophageal reflux and limited mobility. More rarely, liver cysts can also compress the bile duct and lead to yellowing of the skin (jaundice). Compression of the blood vessels of the liver by cysts can lead to accumulation of fluid in the abdomen (ascites), bleeding and high blood pressure in the blood flow from intestines to the liver (portal hypertension). In rare cases, patients can suffer from cyst bleeding (hepatic cyst hemorrhage) or a cyst can be infected by bacteria (hepatic cyst infection), causing pain and fever. Infrequently, large liver cysts may rupture, causing severe abdominal pain. Even with the presence of many cysts, the liver of individuals with polycystic liver disease functions normally.", "causes": "Changes (mutations or pathogenic variants) in many different genes can cause ADPLD. Mutations in PRKCSH cause about 20% of cases and mutations in SEC6 cause about 15% of cases. Other genes associated with ADPLD include ALG8, GANAB, LRP5, PKHD and SEC61B3. However, less than 50% of individuals with polycystic liver disease have a mutation in one of these genes, so other genes may be involved in this condition.", "affected": "Polycystic liver disease is estimated to affect less than 1 in 10,000 people. This is likely an underestimate because many people with the condition do not have symptoms. Males and females are affected in equal numbers, but most patients with symptoms and with severe disease are women. The suggested cause of this difference is that female sex hormones, such as estrogen, contribute to growth of liver cysts. Oral contraceptives and estrogen replacement therapy are also associated with more severe disease]. Cysts can begin to grow at any age but are rare in childhood and more common with age. The age at which symptoms begin to occur varies with individuals but is usually after 30 years old.", "related-disorders": "Symptoms of the following disorders can be similar to those of polycystic liver disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Caroli syndrome is a rare congenital liver disorder characterized by enlargement (dilation) of the small branches of the bile ducts inside the liver. If symptoms occur, the most common are abdominal pain, fever and jaundice. Caroli syndrome is often associated with autosomal recessive polycystic kidney disease (ARPKD). (For more information on this disorder, choose Caroli as your search term in the Rare Disease Database.).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:729", "name_zh": "真性红细胞增多症", "Name": "Polycythemia vera", "disease_name": "Polycythemia Vera", "synonyms": "erythremia", "disease-overview": "", "symptoms": "The symptoms of polycythemia vera usually develop slowly over many years. Often, the disorder is found incidentally on a blood test as part of a routine exam before noticeable symptoms occur. Occasionally, affected individuals may report vague, nonspecific symptoms that eventually lead to diagnosis of the disorder.", "causes": "Polycythemia vera is caused by a malignant change in the genetic material (DNA) within a single cell of the bone marrow (clonal disorder). Bone marrow is the soft, spongy material found inside bone where most blood cell production occurs. The underlying reason why this malignant change occurs is unknown.", "affected": "Polycythemia vera affects slightly more males than females. The disorder is estimated to affect approximately 44 to 57 per 100,000 people in the US. It occurs most often in individuals more than 60 years old but can affect individuals of any age. It is extremely rare in individuals under 20.", "related-disorders": "Symptoms of the following disorders can be similar to those of polycythemia vera. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of polycythemia vera may be made based upon a thorough clinical evaluation, detailed patient history and various specialized tests. In many people, the disorder may be detected from blood tests conducted during a routine examination. A complete blood count (CBC) may demonstrate elevated numbers of red blood cells and sometimes platelets and white blood cells.", "therapies": NaN}
{"OrphaCode": "ORPHA:213557", "name_zh": "唾液腺型乳腺癌", "Name": "Polymorphous Low-Grade Adenocarcinoma", "disease_name": "Polymorphous Low-Grade Adenocarcinoma", "synonyms": "Lobular Carcinoma of the Minor Salivary Glands", "disease-overview": "Polymorphous low-grade adenocarcinoma (PLGA) is a rare tumor of the salivary glands that is limited, to a great extent, to the minor salivary glands and commonly, but not exclusively, localized in the palate of the mouth. The major salivary glands are the parotid glands (at the side of the face, below the ears), the sublingual glands (below the tongue), and the submandibular glands (below the lower jaw).  As the name suggests, each of the major salivary glands is of substantial size and visible to the naked eye. There are about 600 to 1,000 minor salivary glands that are microscopic in size. These minor salivary glands are found in the lining (mucosa) of the lips, tongue, and hard and soft palate, as well as inside the nose, cheeks, and sinuses.", "symptoms": "A lump or mass in the palate or near any of the salivary glands should be seen by a physician as soon as possible.  A lingering pain in the area of the salivary glands is a signal to see a physician.  A change in the size and/or shape of one of the salivary glands (asymmetry) may be a sufficient reason to see a doctor.  Unexplained bleeding in the mouth is also a symptom warranting attention, and any persistent numbness on any part of the face or a weakening of the muscles on one side of the face should be brought to the attention of a physician.  Early diagnosis and treatment are important.", "causes": "Why a normal cell becomes malignant is not yet fully understood.", "affected": "In most instances PLGA affects people in their middle age.  The median age at which patients are diagnosed is 57 years, with a range of from 22 to 71 years.  For reasons that are unknown, this disease affects slightly more women than men.", "related-disorders": "Acinic cell carcinoma", "diagnosis": "The diagnosis of PLGA may be suspected on history and clinical examination, but can be confirmed only by biopsy of the affected tissue.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93569", "name_zh": "风湿性多肌痛", "Name": "Polymyalgia Rheumatica", "disease_name": "Polymyalgia Rheumatica", "synonyms": "Anarthritic Syndrome", "disease-overview": "Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia rheumatica can be a relatively benign condition that is extremely responsive to treatment. In some rare cases, permanent muscle weakness, degeneration and loss (atrophy) of muscle mass, and disability may occur. The exact cause of polymyalgia rheumatica is unknown, although immunological factors and familial tendencies (genetic predisposition) have been mentioned in the medical literature.", "symptoms": "In most cases, the symptoms of polymyalgia rheumatica begin abruptly (acutely). However, symptoms may develop slowly (insidiously) during a period of several weeks or months. Symptoms may include muscle pain (myalgia) and stiffness in the neck, shoulders, upper arms, lower back, hips, and/or thighs. The lower arms, hands, lower legs, and feet (distal extremities) are not usually affected by this disorder. Stiffness and pain, which typically occur on both sides of the body (bilateral), are most severe in the morning (morning stiffness) and after long periods of rest or inactivity (gel phenomenon). In most cases, the shoulder girdle is the first area affected. However, in other cases, the neck or hips may show the first signs of the disorder. Pain or discomfort usually begins on one side of the body before affecting the other side as well.", "causes": "The exact cause of polymyalgia rheumatica is not known. The immune system has been implicated in some studies, but a direct relationship has not been established. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. In addition, because the disorder occurs in older individuals, polymyalgia rheumatica may be related to the aging process.", "affected": "Polymyalgia rheumatica is a rare disorder that affects twice as many females as males. Affected individuals are usually over the age of 50 years. This disorder occurs at the rate of about 50 per 100,000 in people over 50 years of age. Polymyalgia rheumatica is estimated to affect 450,000 individuals in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of polymyalgia rheumatica. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Giant cell arteritis, also known as temporal arteritis, is a chronic inflammatory disorder characterized by the progressive inflammation of many arteries of the body (panarteritis). Granular material and abnormally large cells (giant cells) accumulate in the elastic lining of the arteries. Symptoms of giant cell arteritis vary widely from case to case. In some cases, chronic inflammation is confined to the different branches of the heart’s main artery (aorta), resulting in many large arteries becoming inflamed. However, the temporal arteries in the head are most frequently affected, causing symptoms such as headaches and stabbing pain on both sides of the head. The scalp of some affected individuals may also become red, swollen, and/or tender. Some affected individuals may also feel rhythmic pulsations on either side of the head. Additional symptoms may include fever, muscles weakness, a general feeling of ill health (malaise), muscle pain, weight loss, and stiffness. Some individuals with giant cell arteritis may develop polymyalgia rheumatica. (For more information on this disorder, choose Giant Cell Arteritis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:71526", "name_zh": "前阿黑皮素缺乏所致肥胖症", "Name": "Obesity due to pro-opiomelanocortin deficiency", "disease_name": "POMC Deficiency", "synonyms": "obesity due to pro-opiomelanocortin deficiency", "disease-overview": "", "symptoms": "Most individuals diagnosed with POMC deficiency have early-onset obesity and adrenal insufficiency, a condition in which the adrenal glands don’t work correctly. The first symptom of POMC deficiency is often very low blood sugar (hypoglycemia) related to adrenal insufficiency and low levels of ACTH, an important hormone made by the pituitary. ACTH is necessary for the adequate production of cortisol in the adrenal gland. If left untreated, adrenal insufficiency may lead to liver failure and less commonly, death. Infants with POMC deficiency have a normal birth weight but are constantly hungry (hyperphagia) and gain weight very quickly. Obesity is common by age one. Children and adults with this condition have continuous hunger, obesity and behavior problems related to food and eating. Obesity may become severe, leading to other health problems. Some people have a low functioning thyroid gland and are shorter than average. Delayed or absent puberty has also been reported. Many people with POMC deficiency also have pale skin and light or red hair.", "causes": "POMC deficiency is caused by pathogenic variants (mutations) in the POMC gene. The POMC gene works with other genes to help signal the body when it’s time to eat and when it has had enough food. When the POMC gene doesn’t work correctly, these signals don’t exist and a person with POMC deficiency feels hungry all the time. In addition, the protein made by the POMC gene affects other glands in the body, especially the adrenal gland, thyroid and liver.", "affected": "POMC deficiency is very rare, and it is unclear if it is more common in any particular populations. It has been diagnosed more often in populations where marriage between relatives is customary.", "related-disorders": "POMC deficiency is one of several rare inherited conditions that include early-onset obesity with few or no other signs or symptoms. These conditions are due to changes in one of the genes that normally work together to help regulate hunger and energy production. These conditions may be difficult to diagnose based solely on clinical examination. Adrenal insufficiency and pale skin and hair may set POMC deficiency apart from other early-onset obesity conditions, but often genetic testing is the only way to tell the difference between them.", "diagnosis": "POMC deficiency is diagnosed based on a clinical examination, symptoms and the results of laboratory and genetic testing. POMC deficiency is usually diagnosed after adrenal insufficiency is confirmed and obesity develops. The diagnosis of POMC deficiency is confirmed using genetic testing for variants in the POMC gene.", "therapies": "Early treatment options for obesity for people with POMC deficiency include weight management through diet and behavioral counseling, physical training and outpatient obesity programs. However, most of these do not result in permanent weight loss."}
{"OrphaCode": "ORPHA:365", "name_zh": "酸性麦芽糖酶缺乏所致糖原贮积病", "Name": "Glycogen storage disease due to acid maltase deficiency", "disease_name": "Pompe Disease", "synonyms": "glycogen storage disease type II (GSD II)", "disease-overview": "", "symptoms": "Patients with the ‘classic infantile’ form of Pompe disease are the most severely affected. Although hardly any symptoms may be apparent at birth, the disease usually presents within the first three months of life with rapidly progressive muscle weakness (‘floppy infants’), diminished muscle tone (hypotonia), respiratory deficiency, and a type of heart disease known as hypertrophic cardiomyopathy, a condition characterized by abnormal thickening of the walls of the heart (mainly the left chamber and the wall between the left and right chamber) resulting in diminished cardiac function. These problems together culminate in cardio-respiratory failure within the first 2 years of life.", "causes": "Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease. Pompe disease carriers will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.", "affected": "Pompe disease occurs in various populations and ethnic groups around the world. Estimates vary, but its incidence is generally placed at approximately 1 in 40,000 births in the United States (and in the Netherlands). However, a recent review of birth incidences in Missouri reported a much higher incidence of 1 in 5,463 in that state. A ‘founder effect’ cannot be excluded. The same holds for Pompe disease in the American Black population and for Pompe disease in Taiwan where unique pathogenic variants have been reported.", "related-disorders": "A variety of disorders can cause symptoms or physical findings that are like those seen in individuals with Pompe disease. Several of these disorders are discussed below. For more information on these disorders, choose the specific disorder name as your search term in the NORD Rare Disease Database.", "diagnosis": "Most physicians are not familiar with Pompe disease. They may never have had patients with Pompe Disease. They need to know what they are looking for. The diagnosis of Pompe disease is based on a thorough clinical evaluation, a detailed patient and family history, and a variety of biochemical tests with first of all the measuring of GAA activity. Preimplantation testing and prenatal diagnosis are also possible when a pregnancy is known to be at risk for Pompe disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98523", "name_zh": "非综合征型脑桥小脑发育不全", "Name": "Non-syndromic pontocerebellar hypoplasia", "disease_name": "Pontocerebellar Hypoplasia", "synonyms": "arginyl-tRNA synthetase 2 (RARS2)", "disease-overview": "Pontocerebellar hypoplasias (PCH) are a group of rare heterogeneous conditions characterized by prenatal development of an abnormally small cerebellum and brain stem, which is usually associated with profound psychomotor retardation. Although the clinical features vary widely, pontocerebellar hypoplasias are usually associated with profound intellectual disability and delayed or absent psychomotor milestones. In most cases, the disease is uniformly fatal early in life. Life span has ranged from death in the perinatal period to about 20-25 years of age. Only a few individuals-usually patients with PCH type 2-have survived to the second and third decades of life. At least 6 types of PCH have been described and a few rare variants are now being identified.", "symptoms": "Pontocerebellar Hypoplasia Type 1 (PCH type 1):", "causes": "Pontocerebellar hypoplasia is considered to be inherited as an autosomal recessive disorder because it occurs mostly in consanguineous families (families where both parents are related). Therefore, each offspring of parents carrying the genetic abnormality has a one in four chance of suffering from pontocerebellar hypoplasia. However there is a two out of three chance that a sibling of an affected child may have one of the abnormal genes that on its own will not cause the disease in that sibling. Brain imaging (MRI or CT) shows small cerebellum and pons.", "affected": "The disease affects both males and females without a predilection for either sex. More than 100 cases have been reported in the medical literature. The exact incidence of pontocerebellar hypoplasia is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of PCH. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Molecular genetic diagnosis is available and has been described above with each PCH type for which it is available. Genetic tests are available for PCH types 1, 2A, 2B, 2C, 4 and 6. Prenatal diagnosis is now available for some forms of PCH.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:101330", "name_zh": "迟发性皮肤卟啉症", "Name": "Porphyria cutanea tarda", "disease_name": "Porphyria Cutanea Tarda", "synonyms": "UROD deficiency", "disease-overview": "", "symptoms": "The symptoms of PCT can vary greatly from one individual to another. Skin abnormalities characterize this disorder. Affected individuals are abnormally susceptible to damage of the skin from sunlight (photosensitivity). Extremely fragile skin that can peel or blister on minimal impact is common. Affected individuals may develop blistering skin lesions on areas of the skin that are frequently exposed to the sun such as the hands and face. These lesions may crust over.", "causes": "PCT is a multifactorial disorder, which means that several different factors such as genetic and environmental factors occurring in combination are necessary for the development of the disorder. These factors are not necessarily the same for each individual. These factors contribute either directly or indirectly to decreased levels or ineffectiveness of an enzyme known as uroporphyrinogen decarboxylase (UROD) within the liver. When UROD levels in the liver decrease to approximately 20% of normal levels, the symptoms of PCT may develop.", "affected": "PCT is a rare disorder that affects males and females. The disorder usually develops after the age of 30 and its onset in childhood is rare. PCT is found worldwide and in individuals of all races. The prevalence is estimated to be approximately 1 in 10,000 to 25,000 individuals in the general population. PCT is the most common form of porphyria.", "related-disorders": "Symptoms of the following disorders can be similar to those of PCT. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of PCT is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79277", "name_zh": "先天性红细胞生成性卟啉病", "Name": "Porphyrias", "disease_name": "Porphyrias", "synonyms": "", "disease-overview": "", "symptoms": "ACUTE PORPHYRIAS", "causes": "Porphyria occurs when there is an alteration of one of the enzymes used to make the molecule heme. At least eight different enzymes are involved in making heme. A different gene is responsible for making each of these enzymes. Each type of porphyria is related to a different altered (mutated) gene responsible for one of the enzymes involved in the steps making the molecule heme. Most mutations cause decreased function of the affected enzyme, but mutations in one type of porphyria (XLP) cause an increase in enzyme activity.", "affected": "The exact number of people who have porphyria is unknown, but it has been estimated that about 1 in 20,000 people may have some type of porphyria. Some forms of porphyria are more common in specific populations. For example, acute intermittent porphyria is more common in Sweden than other parts of the world. Porphyria cutanea tarda may be the most common type of porphyria, occurring in 1 in 25,000 people in the United States. Erythropoietic porphyria is the most common in children, with the highest incidence in the Netherlands of about 1 in 75,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of the porphyrias. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Porphyria is diagnosed based on a clinical exam and symptoms, as well as blood, urine and stool tests. Molecular genetic (DNA) testing may be used to help confirm the diagnosis. Once someone in a family has been diagnosed with porphyria, other family members may be tested to see if they have inherited the condition.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2942", "name_zh": "脊髓灰质炎后综合征", "Name": "Post Polio Syndrome", "disease_name": "Post Polio Syndrome", "synonyms": "Polio, Late Effects", "disease-overview": "Post-polio syndrome (PPS) is a syndrome that affects some people who have had polio (poliomyelitis) and occurs many years (typically from 10 to 40 years) after recovery from the initial infection. It is characterized by the development of progressive weakness in muscles that were affected by the original polio infection. In addition, those affected may experience extreme fatigue and joint pain. Skeletal deformities, such as scoliosis, may occur as a result of this syndrome. There is variation in the severity of symptoms. In severe cases, symptoms may mimic those of the rare disorder known as Lou Gehrig’s disease (amyotrophic lateral sclerosis). The degree of muscle atrophy during the post-polio period appears to reflect the severity of the impact of the initial polio infection. People who were significantly affected by polio are more likely to experience severe symptoms from post-polio syndrome. The cause of this syndrome is not known. Although exact numbers are not available, it has been estimated that there are 300,000 polio survivors in the United States and that from one-fourth to one-half of them may ultimately develop some degree of post-polio syndrome.", "symptoms": "Post-polio syndrome occurs at least 10 years after a person has been stricken by polio.  It is characterized by gradual deterioration of muscle function and increased weakness that usually occurs in the limbs that were most severely affected by polio.  Sometimes, the disorder involves muscles that appeared to be fully recovered or that were not involved in the original polio attack, including muscles necessary for respiration.  Other symptoms may include fatigue, muscle pain and twitching (fasciculations).", "causes": "The cause of post-polio syndrome is not known at this time.  One theory is that it may be related to the recovery from the original polio.  During recovery from polio, nerve cells in affected muscles may regrow many smaller branches (dendrites) from the message-transmitting large branches (axons) of nerve cells.  These sprouts take over the function of neurons killed by the polio virus.  It is thought that, after years of functioning beyond capacity, the nerve cells weaken and lose their ability to maintain these tiny dendrites, which then begin to shrink, and the whole muscle becomes weaker.  Additional research is needed to determine whether this may, in fact, be the cause of post-polio syndrome.", "affected": "Post-polio syndrome affects people who have had acute episodes of poliomyelitis.  It occurs 10 years or more after the original illness, and can occur as long as 40 years afterward.  According to one estimate, 25% to 50% of the 300,000 polio survivors in the United States may develop the syndrome.  At the present time, there is no known way to prevent the syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of post-polio syndrome.  Comparisons may be useful for differential diagnosis:", "diagnosis": "Amyotrophic lateral sclerosis (ALS) is one of a group of disorders known as motor neuron diseases.  It is characterized by the progressive degeneration and eventual death of nerve cells (motor neurons) in the brain, brainstem and spinal cord that facilitate communication between the nervous system and voluntary muscles of the body.  Ordinarily, motor neurons in the brain (upper motor neurons) sent messages to motor neurons in the spinal cord (lower motor neurons), and then to various muscles.  ALS affects both the upper and lower motor neurons, so that the transmission of messages is interrupted, and muscles gradually weaken and waste away.  As a result, the ability to initiate and control voluntary movement is lost.  Ultimately, ALS leads to respiratory failure because affected individuals lose the ability to control muscles in the chest and diaphragm.  ALS is often called Lou Gehrig’s disease. (For more information on this disorder, choose amyotrophic lateral sclerosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70568", "name_zh": "移植后淋巴增殖性疾病", "Name": "Post-transplant lymphoproliferative disease", "disease_name": "Post-Transplant Lymphoproliferative Disease", "synonyms": "PTLD", "disease-overview": "Post-transplant lymphoproliferative disease (PTLD) is a rare, but well-known complication of solid organ transplants and hematopoietic stem cell transplantation. PTLD is related to the Epstein-Barr virus and immunosuppression therapy. People who receive these transplants are treated with drugs that suppress the activity of the immune system. Doctors must suppress the immune system to help the body accept the transplant and avoid rejection. Individuals receive these drugs at the time of the transplant (induction therapy) and must remain on these drugs for the rest of their lives (maintenance therapy). Immunosuppressive therapy leaves patients at a greater risk of developing infections and, in some people, of developing post-transplant lymphoproliferative disease. Early diagnosis and prompt treatment of these disorders are extremely important.", "symptoms": "The specific symptoms and severity of PTLD can vary greatly from one person to another. Some affected individuals develop a mild, noncancerous overgrowth of affected tissue, while other people can develop a cancerous, life-threatening form of lymphoma. The mild, benign form of PTLD can resemble reactive hyperplasia, the normal process in which lymph nodes become enlarged in response to an infection or inflammation. PTLD can be localized, which means the disease only affects a specific area of the body, or widespread (disseminated), which means it affects several different areas of the body. They can also cause severe, life-threatening complications. In addition, PTLD may affect the transplanted organ, and these disorders commonly involve extranodal tissue.", "causes": "Post-transplant lymphoproliferative disease may be associated with infection with the Epstein-Barr virus (EBV). This is a common virus that, generally, does not cause any problems in people after an active phase. This virus infects B-cells. After the active phase, the virus remains in the body, where it lies dormant or silent in these cells (latent phase). Most people are first infected with the Epstein-Barr virus in childhood and only develop mild symptoms or no symptoms. If infection first occurs in the teen-aged years or adulthood, affected individuals may develop fever, sore throat, and enlarged lymph nodes. The Epstein-Barr virus is one of the most common causes of infectious mononucleosis or mono. As many as 90-95% of people will be infected with the Epstein-Barr virus at some point during their lives. EBV negative recipients are at higher risk of PTLD.", "affected": "The incidence and prevalence of post-transplant lymphoproliferative disease varies based on the type of transplant and affects about 1%-2% of people who have received a kidney (renal) transplant. Rates are higher in heart and lung transplants. PTLD occurs most often with gastrointestinal and multiorgan transplants. PTLD is the most common cancer affecting people who receive solid organ transplants after squamous cell carcinoma of the skin. In a retrospective multicenter study, the overall incidence of PTLD in people who had hematopoietic stem-cell transplants was reported to be 3.2%", "related-disorders": "Symptoms of the following disorders can be similar to those of post-transplant lymphoproliferative disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of a post-transplant lymphoproliferative disease is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests, including a complete blood count (CBC), chemical panel, specialized imaging (x-ray) techniques, an evaluation for the Epstein-Barr virus, and a tissue biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93110", "name_zh": "后尿道瓣膜", "Name": "Posterior urethral valve", "disease_name": "Posterior Urethral Valves", "synonyms": "PUV", "disease-overview": "", "symptoms": "Most cases of posterior urethral valves are found before birth during an ultrasound. Doctors look for things like swelling in the tubes that carry urine from the kidneys to the bladder (the ureters) and for a swollen thick-walled bladder that may not empty well. A low level of fluid around the baby or swelling in the baby’s belly may also be seen.", "causes": "Posterior urethral valves form when a baby is still developing inside its mother, but the cause is not known. Some theories suggest it’s due to problems with the formation of the urinary system. More research is needed to pinpoint the exact cause.", "affected": "PUV is rare, occurring in about 1 in 5,000 to 1 in 8,000 male infants. It is the most common cause of urinary tract obstruction in newborn males, occurring in roughly 500 babies per year in the U.S.", "related-disorders": "The following disorders sometimes occur along with PUV:", "diagnosis": "Posterior urethral valves are typically suspected during prenatal ultrasound and diagnosed with imaging after birth. Doctors look for signs like a swollen bladder, but it’s not always clear. If undetected during pregnancy, symptoms such as difficulty urinating, urinary retention and/or urinary tract infections in infants and young children may raise suspicion.", "therapies": NaN}
{"OrphaCode": "ORPHA:280892", "name_zh": "后葡萄膜炎", "Name": "Posterior uveitis", "disease_name": "Posterior Uveitis", "synonyms": "choroiditis", "disease-overview": "Uveitis is a general term that refers to inflammation of the part of the eye known as the uvea. The uvea is a relatively thick, strong layer of fibrous tissue that encloses and protects the eyeball. It contains many blood vessels and can cause inflammation in neighboring structures of the eye such as the retina, vitreous, optic nerve head and retinal vessels. The uvea consists of three parts: the iris, ciliary body and choroid.", "symptoms": "Some people do not experience symptoms; however, some who experience them may have a sudden onset and get worse quickly.", "causes": "Uveitis can be caused by a person’s immune system, infections, tumors, bruising, eye injury or exposure to toxins. Posterior uveitis is inflammation of the uvea due to the body’s response to various factors such as microorganisms, toxins and damaged tissue. Inflammation may cause redness, swelling and heat in a particular area of the eye. This reaction can trigger an immune response and lead to the destruction of certain tissues and cause white blood cells to collect in that area of the eye.", "affected": "Posterior uveitis occurs as an isolated condition or as part of other diseases that affect multiple body systems. This condition affects males and females in equal numbers. It can strike at almost any age, but usually begins between the ages of 30 and 40. According to one estimate, posterior uveitis occurs in 18/100,000 people (2020).", "related-disorders": "Symptoms of the following disorders can be similar to those of posterior uveitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Anterior uveitis is characterized by inflammation of the front (anterior) part of the eye. It is more common than posterior uveitis and its symptoms, which frequently include pain and redness of the eye, are not as subtle as those of posterior uveitis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3316", "name_zh": "托马斯综合征", "Name": "Potter Syndrome", "disease_name": "Potter Syndrome", "synonyms": "oligohydramnios sequence", "disease-overview": "", "symptoms": "The signs and symptoms of Potter syndrome can vary from one newborn to another. However, the condition is associated with severe complications affecting the developing fetus and is often fatal at or shortly after birth. When caused by bilateral agenesis of the kidneys, Potter syndrome is not compatible with life. Potter syndrome due to other causes is also often fatal at or shortly after birth, but there is an increased chance for survival. Infants who do survive the newborn period generally experience chronic lung disease and chronic kidney failure.", "causes": "The most common underlying cause of Potter syndrome is absence, underdevelopment or malformation of the kidneys. Absence of both kidneys (bilateral renal agenesis) is the most common condition associated with Potter syndrome. The kidneys produce urine, which makes up the major part of the amniotic fluid, which supports, cushions and protects a developing fetus. Because there is not enough amniotic fluid to protect the fetus, the pressure a fetus undergoes while developing within the uterus that normally does not cause any problems can cause a variety of physical features including distinctive facial features, skeletal abnormalities, and other complications.", "affected": "Potter syndrome is a rare disorder, and the exact incidence or prevalence is unknown. The main cause of this condition, bilateral renal agenesis, occurs in approximately 1 in 5,000 fetuses and accounts for about 20% of Potter syndrome cases. The incidence or prevalence of other causes are unknown. Overall, estimates for the incidence or prevalence of Potter syndrome range from 1 in 4,000 to 10,000 births. A couple studies have shown that male newborns are affected more often than female newborns, probably due to the obstructive uropathy that is seen more often in males.", "related-disorders": "", "diagnosis": "A diagnosis of Potter syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and certain specialized tests. If not detected before birth (prenatally), then lack of urine production, specific (facial) features or difficulty breathing may be signs of Potter syndrome.", "therapies": "There is no treatment for Potter syndrome due to bilateral absence of the kidneys, which is not compatible with life. Efforts should be made to ensure the entire family receives coping support and grief counseling. Genetic counseling is recommended. Psychosocial support for the entire family is essential as well."}
{"OrphaCode": "ORPHA:739", "name_zh": "Prader-Willi综合征", "Name": "Prader-Willi syndrome", "disease_name": "Prader-Willi Syndrome", "synonyms": "Prader-Labhart-Willi syndrome", "disease-overview": "", "symptoms": "The symptoms and severity of PWS can vary from one person to another. Many features of the disorder are nonspecific, and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Often this requires input from a clinical geneticist or genetic counselor with experience in this genetic disorder to supply the most recent and accurate information about the disorder and discuss genetic testing options or treatment plans.", "causes": "PWS occurs when the genes in a specific region of chromosome 15 are not present or do not function. This region of chromosome 15 is located at 15q11.2-q13 and has been designated the Prader-Will syndrome/Angelman syndrome region (PWS/AS). In individuals with PWS, the nonfunctioning PWS/AS region is always located on the number 15 chromosome inherited from the father.", "affected": "PWS affects males and females in equal numbers and occurs in all ethnic groups and geographic regions in the world. Most estimates place the incidence between 1 in 10,000-30,000 individuals in the general population and about 350,000-400,000 individuals worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those seen in PWS including fragile X, Bardet-Biedl Cohen, Borjesson-Forssman-Lehmann, and Alstrom syndromes, uniparental disomy 14 and several other different chromosomal alterations besides chromosome 15, Albright hereditary osteodystrophy, congenital muscular dystrophy and spinal muscular atrophy. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.", "diagnosis": "A diagnosis of PWS is based upon a detailed patient history, thorough clinical evaluation and identification of characteristic symptoms. Consensus diagnostic criteria for PWS have been established and are effective for identifying potential cases of PWS but genetic testing is required to confirm the diagnosis and to identify the specific genetic subtype (15q11-q13 deletion, maternal disomy 15, imprinting defect). Hence, all infants and newborns with unexplained hypotonia and poor suck should be tested for PWS. To confirm a diagnosis of PWS, certain specialized tests are required including DNA methylation tests and fluorescent in situ hybridization (FISH). More recently, high resolution chromosomal microarray studies with several hundred thousand DNA probes (e.g., 2.8 million probes) from throughout the genome representing all chromosomes can be utilized to identify small deletions or duplications of the chromosomes that cannot be seen with routine chromosome studies. High resolution chromosome microarrays are most useful in identifying the typical chromosome 15q11-q13 deletions in which there are two types (larger type I and smaller type II), other rearrangements of this chromosome region, imprinting defects and specific maternal disomy 15 subclasses seen in PWS. Genetic laboratory testing algorithms and advances in genetic technology have allowed more precise testing results and PWS molecular genetic class identified which is important as the severity of clinical findings, disease surveillance and recurrence risks can depend on the specific genetic abnormality.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95708", "name_zh": "罕见性早熟", "Name": "Precocious Puberty", "disease_name": "Precocious Puberty", "synonyms": "pubertas praecox", "disease-overview": "Precocious puberty means an abnormally early onset of puberty. A sequence of events occurs during which a child develops into a young adult beginning at an unexpectedly early age. Glands that secrete growth and sex hormones begin to function abnormally early in life resulting in this condition. Often, the exact cause of precocious puberty is not known.", "symptoms": "Secondary sexual characteristics include testicular enlargement (>3 ml) and/or pubic hair development in boys, and breast and/or pubic hair development in girls. Other signs suggestive of pubertal onset include acne, growth acceleration, voice changes, vaginal discharge or bleeding, and advanced skeletal maturation. There are many terms used to describe pre-pubertal children who have isolated signs of puberty. These children, however, do not necessarily meet the criteria for true precocious puberty. These terms include premature thelarche, premature adrenarche, premature pubarche and premature menarche. The terminology is often confusing as these are also referred to by some authors as incomplete precocious puberty.", "causes": "Central precocious puberty (CPP) can be caused by CNS tumors (craniopharyngioma, glioma, etc.) and other CNS disorders including: hypothalamic hamartoma of the tuber cinereum, encephalitis, brain abscess, static encephalopathy, global delays, sarcoid or tubercular granuloma, head trauma, vascular lesion, cranial irradiation, or neurofibromatosis type 1 (usually associated with optic glioma). A large proportion of CPP is idiopathic, especially in females; however, research is beginning to identify rare genetic causes for some of these cases. For instance, activating mutations of the kisspeptin gene (KISS1) and its receptor (KISS1R), which are known for their stimulatory effect on the hypothalamus ultimately leading to increased gonadotropin secretion, have been identified as precipitating precocious puberty. Additionally, inactivating mutations of a paternally inherited MKRN3 gene, similar to that seen in Prader-Willi syndrome, has been implicated in early puberty.  CPP can also follow the treatment of virilizing congenital adrenal hyperplasia or the treatment of other causes of gonadotropin independent precocious puberty (GIPP).", "affected": "This disorder is classically characterized among females by breast development beginning before the age of eight years in white girls, 6.8 years for Hispanic girls and 6.6 years for Black girls, or the onset of menstruation before the age of approximately ten years (white-10.6 years, Hispanic-10.0 years and black-9.7 years). Among males, precocious puberty can be defined as pubertal development beginning before the age of nine years for white males, 9.5 years for Hispanic males and 8 years for black males. Boys with this disorder will usually have testicular and genital enlargement occur first and then tend to exhibit pubic, underarm (axillary) and facial hair, accelerated growth, and a deepening voice. Puberty may occur even before three years of age in some cases of this disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of precocious puberty. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pseudo-precocious puberty is characterized by high sex steroid levels due either to ingestion of sex steroids, hormone-producing tumors (usually of the ovaries or testes), or abnormalities of the adrenal gland which cause over-production of hormones. Although patients appear to be maturing sexually, ovulation or sperm production may not occur because the gonads are not mature. However, in children with true precocious puberty, ovulation and sperm production can occur abnormally early in life.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:186", "name_zh": "原发型胆道胆管炎", "Name": "Primary biliary cholangitis", "disease_name": "Primary Biliary Cholangitis", "synonyms": "PBC", "disease-overview": "Primary biliary cholangitis (PBC) is a chronic (e.g.,long lasting), progressive liver disorder that mostly affects women and usually appears during middle age. Approximately 25% of patients with PBC are women younger than 40 years of age, and about 10% of patients are men. PBC leads to inflammation and scarring of the small bile ducts (the ‘plumbing’ system of the liver which transports bile, the substance that helps digest fat). When PBC is very severe, it can lead to yellow discoloration of the skin (jaundice), which occurs when bilirubin levels rise above 2 to 3mg/dL or 34 to 51 µmol/L). If PBC is untreated or there is incomplete response to medical treatment, it can lead to cirrhosis (e.g., scarring of the entire liver), which can lead to liver failure. PBC is divided into four stages from stage 1 (early disease, without significant scarring of the liver) to stage 4 (cirrhosis). Although the exact cause of PBC is unknown, it is thought that it is likely due to a combination of factors such as autoimmune (when a person’s own immune system attacks their body), genetic, and environmental factors.", "symptoms": "The most common symptoms of PBC are:", "causes": "The exact cause of PBC is unknown. Possible immunological, autoimmune, genetic, and/or environmental factors are under investigation as potential causes.", "affected": "PBC affects mostly women, but more men are now being diagnosed. The disorder usually becomes apparent during middle age, initially affecting most individuals between the ages of 45 to 65 years. However, the disorder has been diagnosed in females as young as 22 years of age and in females in their early 90s. It has been estimated that PBC is one of the most common autoimmune diseases, affecting nearly 1 in 1000 women over the age of 40.", "related-disorders": "Other diseases that may need to be ruled out include the following:", "diagnosis": "The diagnosis of PBC requires the presence of:", "therapies": "In 2004, the drug ursodiol (Urso), also known as ursodeoxycholic acid (UDCA), was approved by the US Food and Drug Administration (FDA) for the treatment of PBC. Ursodiol is manufactured by Axan Pharma and Schwarz Pharma US."}
{"OrphaCode": "ORPHA:46135", "name_zh": "原发性中枢神经系统淋巴瘤", "Name": "Primary central nervous system lymphoma", "disease_name": "Primary Central Nervous System Lymphoma", "synonyms": "primary CNS lymphoma", "disease-overview": "", "symptoms": "The potential symptoms of primary CNS lymphoma are varied and mostly depend on the location of the tumor. Symptoms typically develop over weeks (subacute).", "causes": "Primary CNS lymphomas most often develop from the uncontrolled proliferation of cells derived from B lymphocytes (also known as B cells), which are a type of immune cell. More rarely, PCNSL can also develop from T lymphocytes (also known as T cells), but our understanding of prognosis and therapies for PCNSL is based on patients who specifically have primary diffuse large B-cell lymphoma of the CNS. The exact mechanism by which malignant lymphocytes invade the brain is not understood yet, but there are two main hypotheses: lymphocytes might be drawn to the CNS and then replicate and lead to a malignant tumor. Alternatively, already malignant lymphocytes might be drawn to the CNS via the expression of specific adhesion molecules that mediate traffic to the brain.", "affected": "Primary central nervous system lymphoma constitutes 2-3% of all brain tumors and develops in around five individuals per million each year, for a total of approximately 1,500 new cases per year in the United States. PCNSL is slightly more common in males. The most common risk factor for the development of a primary CNS lymphoma is an impaired immune system (immunosuppression). This is notably the case of patients living with HIV/ AIDS, especially those who are not treated who have a high viral load and low CD4+ cell count. Other immunosuppressed patients include organ transplant recipients and individuals with congenital immunodeficiency syndromes. In fact, primary CNS lymphoma is the most common brain tumor in immunosuppressed patients. The other main risk factor for developing a PCNSL is age. Most immunocompetent patients are diagnosed around age 65, although cases of PCNSL have also been reported in children. AIDS-related PCNSL most often develops during the fifth decade of life (age 40-49). There has been an increase in the incidence of immunocompetent PCNSL, particularly in the elderly.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary central nervous system lymphoma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Other types of brain tumors have symptoms similar to primary CNS lymphoma. They are classified according to their origin. Examples include gliomas, meningiomas, medulloblastomas and brain metastases, which are more common than tumors arising in the brain (primary brain tumors) and come from cancers elsewhere in the body, including the lungs, breasts and gastrointestinal tract.", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:244", "name_zh": "原发性纤毛运动障碍", "Name": "Primary ciliary dyskinesia", "disease_name": "Primary Ciliary Dyskinesia", "synonyms": "immotile cilia syndrome", "disease-overview": "Primary ciliary dyskinesia (PCD) is a genetic condition in which the microscopic organelles (cilia) in the respiratory system do not function properly. Ciliary dysfunction prevents the clearance of mucous from the lungs, paranasal sinuses and middle ears. Bacteria and other irritants in the mucous lead to frequent respiratory infections. Kartagener syndrome is a type of PCD associated with a mirror-image orientation of the heart and other internal organs (situs inversus). PCD usually follows autosomal recessive inheritance, but rare cases of X-linked and autosomal dominant inheritance have been observed.", "symptoms": "The severity of symptoms of primary ciliary dyskinesia varies in affected individuals. Symptoms often begin shortly after birth and can include coughing, gagging, choking and neonatal respiratory distress (lung atelectasis). Affected individuals often experience chronic sinus, middle ear and lung infections as well as chronic coughing, excess mucus and hearing loss. The recurring respiratory infections can lead to irreversible scarring and dilatation in the bronchi (bronchiectasis) and severe lung damage.", "causes": "PCD is known to be caused by changes (disease-causing variants) in over 50 genes. This does not account for all cases of PCD, therefore, more PCD genes are yet to be identified.", "affected": "Primary ciliary dyskinesia occurs in approximately 1 in 16,000 to 20,000 births. Only half of primary ciliary dyskinesia results in Kartagener syndrome. Recent studies have estimated the overall global prevalence of primary ciliary dyskinesia to be at least 1 in 7,554 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary ciliary dyskinesia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cystic fibrosis is a genetic disease that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body, especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs) or externally (e.g., sweat glands). In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. (For more information on this disorder, choose cystic fibrosis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2163", "name_zh": "前脑无裂畸形-颅缝早闭综合征", "Name": "Primary Craniosynostosis", "disease_name": "Primary Craniosynostosis", "synonyms": "craniostenosis", "disease-overview": "Primary craniosynostosis is a general term for the improper development of the bones of the skull, which can result in an abnormal head shape in affected individuals. Craniosynostosis refers to the premature fusion of the fibrous joints (sutures) between certain bones of the skull. The severity of primary craniosynostosis can vary from one person to another. While raised intracranial pressure is unlikely with single suture abnormalities with intelligence usually being unaffected, recent data and debate about unrecognized elevated pressure (as well as effects upon cognition) has led to considerable controversy. Until we are able to measure intracranial pressure via non-invasive means, it is likely that the surgical argument between appearance and brain pressure will continue. Primary craniosynostosis may occur as an isolated finding or as part of a syndrome. Patients with syndromic conditions generally have more than one suture involved. Not surprisingly, the therapeutic options and outcomes are dependent upon the degree of suture involvement. The main treatment for primary craniosynostosis is surgery, but not all affected children will require surgery. The exact cause of primary craniosynostosis is unknown, although the skull abnormalities may result from the abnormal hardening (ossification) of the cranial sutures. Primary craniosynostosis is distinguished from secondary craniosynostosis, which occurs because of a primary failure in brain growth which in turn may lead to abnormalities in head shape, occasionally mimicking craniosynostosis.", "symptoms": "Primary craniosynostosis is usually apparent at birth or within a few months shortly thereafter (neonatal period). Mild cases may go undiagnosed until early during childhood.", "causes": "The exact cause of primary (isolated) craniosynostosis is unknown. Primary isolated craniosynostosis refers to cases that are not associated with a larger syndrome. Most cases occur randomly for no apparent reason (sporadically) although an infant’s position in utero, large size and presence of twins have all been implicated as etiological factors. A variety of different genetic and environmental factors are suspected to play a role in the development of primary isolated craniosynostosis.", "affected": "Primary craniosynostosis affects individuals of all races and ethnicities and is usually present at birth. Most forms of primary craniosynostosis affect men and women in equal numbers (although males outnumber females 2:1 for sagittal synostosis). Primary craniosynostosis affects approximately 0.6 in 100,000 people in the general population. Overall, craniosynostosis affects approximately 1 in 2,000-2,500 people in the general population. Approximately 80-90 percent of individuals with primary craniosynostosis have isolated defects. The remaining cases of primary craniosynostosis occur as part of a larger syndrome. More than 150 different syndromes have been identified that are potentially associated with craniosynostosis.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary craniosynostosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of primary craniosynostosis is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation that includes careful assessment of the shape of the skull. A variety of specialized tests include specialized imaging techniques. Such imaging techniques may include computerized tomography (CT) scanning and magnetic resonance imaging (MRI), although a head CT is best for evaluating suture / bone involvement. Although there has been recent debate about the need for CT’s prior to surgery (and accompanying radiation), there are a number of literature reports documenting their value in ruling out other suture involvement as well as brain abnormalities. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. Routine skull x-rays have been discontinued as a routine diagnostic tool in the setting of craniosynostosis due to the lack of sensitivity and frequent inaccuracy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:18", "name_zh": "远端肾小管性酸中毒", "Name": "Distal renal tubular acidosis", "disease_name": "Primary Distal Renal Tubular Acidosis", "synonyms": "dRTA", "disease-overview": "", "symptoms": "Primary distal renal tubular acidosis is a highly variable disorder; this means that the disorder affects people differently. Some individuals may only have slightly elevated acid levels and no accompanying symptoms (asymptomatic). Some individuals living with primary dRTA may experience kidney stones and others may not. Generally, people with an autosomal dominant pattern of inheritance have milder symptoms and a later age of onset of symptoms than people with an autosomal recessive pattern of inheritance. However, this is not always true and sometimes more severe complications such as growth failure or rickets (bowing of the bones) can affect individuals with dominantly-inherited primary distal renal tubular acidosis.", "causes": "Primary distal renal tubular acidosis is caused by a variation (mutation) in one of at least three different genes, the SLC4A1 gene, the ATP6V0A4 gene, and the ATP6V1B1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body. In some affected individuals, no variation in these three genes can be identified suggesting that other, as-yet-unidentified genes can play a role in primary dRTA.", "affected": "Primary distal renal tubular acidosis affects females and males in equal numbers. The exact number of people who have this disorder is unknown. Rare disorders like primary distal renal tubular acidosis often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary distal renal tubular acidosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of primary distal renal tubular acidosis is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. The disorder may be suspected in individuals with unexplained metabolic acidosis and an elevated plasma chloride (so called normal anion gap metabolic acidosis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1980", "name_zh": "双侧纹状体-苍白球-齿状核钙化", "Name": "Bilateral striopallidodentate calcinosis", "disease_name": "Primary Familial Brain Calcification", "synonyms": "Fahr's disease, formerly", "disease-overview": "Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by the presence of abnormal calcium/hydroxyapatite deposits (calcifications) in the brain. The clinical presentations generally attributed to these brain calcifications are highly heterogeneous, ranging from asymptomatic patients to severe cases with progressive neuropsychiatric features. To date, disease-causing changes (pathogenic variants or mutations) in six genes have been associated with PFBC: SLC20A2, PDGFB, PDGFRB, XPR1, MYORG and JAM-2.  PFBC has recently become the preferred name for this condition because variants in specific genes are now known to be the cause of the condition. Previously, familial idiopathic basal ganglia calcification was the preferred name, and Fahr’s disease is often used for either familial or sporadic brain calcification, and it is unknown if these are the same or different diseases.", "symptoms": "PFBC is characterized by symmetric and bilateral brain calcifications mainly in the basal ganglia, but also seen in the cerebellum, thalami, cerebral white matter and/or pons. These calcium phosphate deposits are commonly found in the fourth to fifth decade of life, while symptoms usually begin in the third to fifth decade of life, even though some individuals with PFBC may be clinically asymptomatic for several decades. PFBC is rare among children but, when present, most of these children present with seizures. Neuropsychiatric and movement disorders are the main PFBC clinical presentations in adults.", "causes": "PFBC is caused by variants in several different genes, and it can either be inherited or develop spontaneously. In inherited cases, the vast majority follow autosomal dominant inheritance, but autosomal recessive inheritance have also been reported.", "affected": "The prevalence of PFBC is unknown, but more people are being diagnosed, probably due to the growing availability of neuroimaging screening and genetic testing.", "related-disorders": "Calcification of the basal nuclei in the brain is found in many medical conditions and can be caused by infections as well as metabolic and other genetic syndromes. It is also not uncommon to observe calcium deposits of the basal ganglia in individuals over 60 years of age and this finding is not usually associated with diseases. Symptoms of the following disorders may be similar to those of PFBC. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Parkinson disease is a slowly progressive neurologic condition characterized by involuntary trembling (tremor), muscular stiffness or inflexibility (rigidity), slowness of movement and difficulty carrying out voluntary movements. Degenerative changes occur in areas deep within the brain (substantia nigra and other pigmented regions of the brain), causing a decrease in dopamine levels in the brain. Dopamine is a neurotransmitter, which is a chemical that sends a signal in the brain.", "therapies": "To date, no specific treatment for PFBC is known. Medications can be used to treat symptoms associated with this condition, such as movement disorders, seizures, anxiety, headaches, depression, psychosis and urinary incontinence (Oliveira JRM, 2011). Medications established in psychiatric clinical practice are generally prescribed to control other disorders, such as mood stabilizers (mainly anticonvulsants) that may be useful in managing depressive symptoms, irritability, euphoria or agitation. Antipsychotics are also used to treat symptoms such as delusions and hallucinations, but they are also useful for managing psychomotor agitation."}
{"OrphaCode": "ORPHA:52417", "name_zh": "MALT淋巴瘤", "Name": "Primary Gastric Lymphoma", "disease_name": "Primary Gastric Lymphoma", "synonyms": "non-Hodgkin gastric lymphoma", "disease-overview": "", "symptoms": "The symptoms of primary gastric lymphoma are usually vague and nonspecific, seen in other conditions beside cancer. In many people, there may be no noticeable physical findings upon diagnosis. Specific symptoms can be very different from one person to another. Abdominal pain or cramping is probably the most common and may be one of the first symptoms noted.", "causes": "The exact cause of primary gastric lymphoma is unknown. However, a strong association between infection with Helicobacter pylori (H. pylori) and the development of MALT gastric lymphoma has been established. H. pylori is a bacterium that is found in the stomach and the upper portion of the intestines and is well known for causing ulcers.", "affected": "Primary gastric lymphoma is estimated to affect approximately 1 in 100,000 people in the general population in Western countries. Several reports have noted that the incidence is increasing. Most cases of primary gastric lymphoma occur in individuals 50 years or older, with a peak incidence in the 60s and 70s. However, cases have been reported in children, adolescents and young adults. Some reports suggest that males are affected more often than females. Primary gastric lymphoma has also been reported to occur more frequently in Caucasians than African Americans.", "related-disorders": "The following disorders can have symptoms similar to primary gastric lymphoma.", "diagnosis": "Primary gastric lymphoma is diagnosed based upon a thorough clinical evaluation, detection of certain symptoms and physical findings, a detailed patient history and a variety of specialized tests. Such testing is necessary to confirm the specific type (and subtype) of NHL present, to assess the nature and extent of the disease and to determine the most appropriate treatments.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:416", "name_zh": "原发性高草酸尿症", "Name": "Primary Hyperoxaluria", "disease_name": "Primary Hyperoxaluria", "synonyms": "oxalosis", "disease-overview": "", "symptoms": "PH has characteristic or core symptoms, but some aspects of these disorders are still not fully understood. Several factors including the small number of identified cases (especially with PH types II and III), the lack of large clinical studies, and multiple genes influencing the disorders prevent physicians from developing a complete picture of associated symptoms and prognosis. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "PH type I is caused by changes (mutations) in the AGXT gene. PH type II is caused by mutations in the GRHPR gene. PH type III is caused by mutations in the HOGA1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "PH affects males and females in equal numbers. The exact incidence and prevalence of these disorders is unknown. Because some cases go undiagnosed or misdiagnosed, determining the true frequency of these conditions in the general population is difficult. Molecular genetic testing of young patients with recurring kidney stone formation can aid in diagnosis. However, some patients with common symptoms of PH are not found to have the known genetic mutations linked to PH, which likely underestimates the true number of people with PH. PH type I is the most common form. One estimate places the prevalence of PH type I at 1-3 cases per 1,000,000 people in the general population with fewer than 1,000 individuals with PH in the United States and the incidence at 1 case per 120,000 live births per year in Europe. PH is thought to be approximately 2.5 times more common in European Americans than African Americans.", "related-disorders": "Symptoms of the following disorders can be similar to those of PH. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of PH is based upon identification of characteristic symptoms (e.g. chronic stone formation), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Children with nephrocalcinosis or kidney stones should be screened for PH. PH may be suspected in individuals with a history of recurrent kidney stones and/or nephrocalcinosis. Because these conditions are rare, there may a delay from symptom onset to diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2207", "name_zh": "家族性原发性甲状旁腺功能亢进症", "Name": "Primary Hyperparathyroidism", "disease_name": "Primary Hyperparathyroidism", "synonyms": "PHPT", "disease-overview": "Primary hyperparathyroidism is a condition in which the parathyroid glands produce too much parathyroid hormone and the calcium level in the blood becomes elevated. The parathyroid glands are part of the endocrine system, the network of glands that secrete hormones into the bloodstream where they travel to various areas of the body. Endocrine glands release hormones that regulate the chemical processes (metabolism) that influence the function of various organs and activities within the body. Hormones are involved in numerous vital processes including regulating heart rate, body temperature and blood pressure, as well as cell differentiation and growth, and in modulation of several metabolic processes. There are four tiny parathyroid glands found in the neck. They are about the size of a pea. Parathyroid hormone (along with vitamin D) is the main regulator of the level of calcium in the blood. It also affects the blood phosphorus level, bone growth and bone cell activity. Most individuals with primary hyperparathyroidism do not develop symptoms (asymptomatic) or have only extremely mild symptoms. Primary hyperparathyroidism mainly affects the skeleton and the kidneys, but the heart, gastrointestinal, and nervous system can sometimes be involved. About 80-85% of the time, the disorder is caused by a benign tumor called an adenoma that is usually found in one of the four parathyroid glands.", "symptoms": "Asymptomatic Primary Hyperparathyroidism", "causes": "The most common cause of primary hyperparathyroidism is a tiny, benign tumor called an adenoma. Usually, one adenoma forms in one of the four parathyroid glands, but it is possible for more adenomas to form in multiple parathyroid glands. An adenoma causes the affected gland to become overactive. Multiple gland hyperplasia accounts for about 6-12%. This condition is characterized by enlargement of multiple parathyroid glands because of an increased reproduction rate of their cells. Multiple gland hyperplasia occurs randomly (sporadically) or as part of a larger genetic syndrome. Double adenomas account for about 2-5%.", "affected": "Estimates of the incidence and prevalence of primary hyperparathyroidism in the Western world vary. Most people with the disorder, more than 80% in the Western world, do not have any symptoms (asymptomatic). Individuals with symptoms, particularly severe symptoms, are a rarer occurrence in developed countries where routine screening of calcium is common. Primary hyperparathyroidism can occur at any age but is most likely to affect individuals over 50. The incidence is highest among individuals of African American heritage, followed by Caucasians. Women are affected about three times more often than men. According to one estimate, about 100,000 people in the United States develop primary hyperparathyroidism each year.", "related-disorders": "Some characteristics or symptoms of the following disorders can be similar to those of primary hyperparathyroidism. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of primary hyperparathyroidism is based primarily upon blood and urine tests. A thorough clinical evaluation that assesses symptoms and family history as well as a variety of specialized tests is also performed to determine the cause, effects on the skeleton and kidney and the need for surgery. Individuals with kidney stones may be suspected of having primary hyperparathyroidism.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90362", "name_zh": "原发性小肠淋巴管扩张", "Name": "Primary intestinal lymphangiectasia", "disease_name": "Primary Intestinal Lymphangiectasia", "synonyms": "PIL", "disease-overview": "Primary intestinal lymphangiectasia (PIL) is a rare digestive disorder characterized by abnormally enlarged (dilatated) lymph vessels supplying the lining of the small intestine. The main symptoms are swelling (edema) of the limbs and abdominal discomfort. The disorder is usually diagnosed before three years of age but is sometimes diagnosed later in life.", "symptoms": "The most obvious sign of the disorder is moderate to severe swelling in the lower limbs, eventually face, abdomen and external genitalia due to fluid retention (edema). Fluid is retained because the blood protein (albumin) levels are low. Lymphedema may also be associated and not easy to differentiate from edema.", "causes": "The cause of PIL is unknown. Multiple affected family members have been reported rarely.", "affected": "PIL is a rare disease that affects males and females in equal numbers. The prevalence is unknown.", "related-disorders": "", "diagnosis": "The diagnosis of PIL is made by viewing the intestine with a flexible scope (endoscope), removing tissue samples from several areas (biopsy) and examining these tissues for signs of abnormal dilation. This exam is rarely normal and videocapsule endoscopy may be useful when endoscopic findings are not contributive. Intestinal lymph oozing may be confirmed by the increased clearance of alpha-1 antitrypsin in the stools.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35689", "name_zh": "原发性侧索硬化症", "Name": "Primary lateral sclerosis", "disease_name": "Primary Lateral Sclerosis", "synonyms": "Central Motor Neuron Disease", "disease-overview": "Primary lateral sclerosis (PLS) is a rare, neuromuscular disorder that affects the central motor neurons and is characterized by progressive weakness and stiffness of the muscles of the legs. Such weakness may progress to affect the arms and the muscles at the base of the brain (bulbar muscles). Less frequently, the muscles of the face are affected. In most cases, the disorder affects adults during midlife. The exact cause of primary lateral sclerosis is unknown.", "symptoms": "Primary lateral sclerosis is a rare disorder affecting the nerve cells that control voluntary muscles. In most cases, the muscles of the legs are involved first. However, in some cases, the disorder may begin in the muscles of the hands or tongue.", "causes": "The exact cause of primary lateral sclerosis is not known. Most cases seem to occur randomly, for no apparent reason (sporadically). Primary lateral sclerosis is one of a group of disorders known as motor neuron diseases. Motor neuron diseases are characterized by malfunction of the nerve cells (motor neurons) within the brain and spinal cord that carry instructions from the brain to the muscles.", "affected": "Primary lateral sclerosis is a rare disorder that affects males and females in equal numbers. In most cases, the disorder occurs during the fifth decade. However, according to the medical literature a familial form may exist that affects children. The exact prevalence of primary lateral sclerosis and motor neuron diseases is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary lateral sclerosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) is a disorder that affects the motor neuron cells. It generally affects both the upper and lower motor neurons and results in the progressive wasting and weakening of those muscles that have lost their nerve supply. A number of different forms of ALS exist, all exhibiting some of the classic symptoms. The early symptoms of ALS include slight muscle weakness, clumsy hand movements, and/or difficulty performing tasks that require delicate movements of the fingers and/or hands. Muscular weakness in the legs may cause tripping and falling. People with ALS may have difficulty swallowing (dysphagia), and speech may be slowed. The exact cause of amyotrophic lateral sclerosis is unknown. (For more information on this disorder, choose ALS as your search term in the Rare Disease Database.)", "therapies": "Treatment of primary lateral sclerosis involves the use of drugs to help control specific symptoms. Baclofen and tizanidine may be prescribed for spasticity, quinine for cramps, and diazepam, a drug that relaxes muscles, for muscular contractions. Additional treatments may include physical therapy to prevent stiffness of joints, and speech therapy may be needed to aid affected individuals whose ability to speak has been impaired by muscle weakness. Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:77240", "name_zh": "原发性淋巴水肿", "Name": "Primary Lymphedema", "disease_name": "Primary Lymphedema", "synonyms": "hereditary lymphedema", "disease-overview": "", "symptoms": "The main symptom associated with primary lymphedema is edema in different parts of the body due to accumulation of lymph in the soft layers of tissue under the epidermis. Swelling frequently occurs in one or both legs, but may also be present in the trunk, face, genitalia and arms. When lymphedema develops in the arms or legs, swelling is usually most noticeable furthest from the heart (distally) but may involve the whole limb. In some people, swelling may cause sensations of tightness, heaviness, discomfort and unusual tingling (paresthesia) in the affected areas. The affected area heals poorly even after minor trauma (e.g., cut or insect bite). The skin of the affected area may become abnormally dry and scaly (hyperkeratosis) and fibroadipose tissue may form beneath the skin resulting in deep fissures and a woody texture. Other skin problems may develop such as bleeding from fluid-filled sacs (vesicles), leakage of lymph fluid from the skin (lymphorrhea), and warty growth (papillomatosis).", "causes": "Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient, absent or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body. Variants in more than 20 genes have been identified as causing primary lymphedema as an isolated clinical feature or as part of a syndrome or complex lymphatic anomaly, and research continues about other possible genetic causes.", "affected": "Primary lymphedema affects approximately 1.15 in 100,000 individuals < 20 years old. Primary lymphedema affects females more often than males, with a ratio of 3.5/1. Primary lymphedema during adolescence is more common among girls while boys are more commonly affected during infancy. Worsening lymphedema during hormonal changes associated with puberty, menses and pregnancy may explain the gender difference.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary lymphedema presenting as a clinical feature of a multisystem disorder (syndrome) or presenting as the consequence of a complex lymphatic anomaly involving internal structures and/or organs. Peripheral edema may also be a consequence of a complicated vascular anomaly involving lymphatic vessels. Comparisons may be useful for a differential diagnosis. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database", "diagnosis": "Primary lymphedema confined to the limbs can be diagnosed through clinical evaluation ninety percent of the time. For example, inability to pinch the skin on the dorsum of the foot (Stemmer sign) is fairly sensitive (92%) and specific (56%) for the condition. Radionuclide lymphoscintigraphy is the definitive imaging study for diagnosis of primary lymphedema. During lymphoscintigraphy, a radioactively labeled colloid substance (tracer) is injected through the skin (intradermally) into either the hands or feet and monitored as it is transported through the body. The time required for the tracer to be transported from the point of injection to the regional lymph nodes is recorded. Findings suggestive of primary lymphedema include delayed transit time, dermal backflow (accumulation of tracer in the lymphatics of the skin), asymmetrical uptake in the lymph nodes, formation of collateral lymphatic channels, and pathological uptake by lymph nodes deep in the elbow or knee areas. In congenital-onset primary lymphedema, the tracer may not move at all from the site of injection.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:824", "name_zh": "原发性骨髓纤维化", "Name": "Primary myelofibrosis", "disease_name": "Primary Myelofibrosis", "synonyms": "agnogenic myeloid metaplasia (AMM)", "disease-overview": "", "symptoms": "Most of the symptoms of primary myelofibrosis are related to abnormalities affecting the production of the three main types of blood cells: red and white cells and platelets. Most blood cells are produced in the bone marrow and released into the bloodstream to travel throughout the body performing their specific functions. Red blood cells deliver oxygen to the body, white blood cells help in fighting off infections and platelets allow the body to form clots to stop bleeding.", "causes": "The underlying cause of primary myelofibrosis is unknown (idiopathic). Approximately, 50 percent of people with PMF have a mutation of the JAK2 gene. This gene is also mutated in essential thrombocythemia and polycythemia vera. Mutations in the CALR gene occur in approximately 20% of the patients. Approximately 10 percent of those affected have mutations of the MPL gene. The exact role that JAK2, CALR or MPL gene mutations play in the development of primary myelofibrosis is not fully understood.", "affected": "Primary myelofibrosis is a chronic blood disorder that affects males and females in equal numbers. It can occur at any age although it usually affects individuals more than 50 years of age. The median age at diagnosis is approximately 65. The incidence is estimated to be 1.5 cases per 100,000 people in the United States. In studies of Northern European countries, the incidence was estimated to be .5 cases per 100,000 people. The worldwide incidence is unknown. When primary myelofibrosis affects children, it is usually before three years of age. In younger children, girls are affected twice as often as boys.", "related-disorders": "Symptoms of the following disorders can be similar to those of primary myelofibrosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of primary myelofibrosis may be made based upon a thorough clinical evaluation, detailed patient history, and various specialized tests. In many people, the presenting sign of the disorder is an abnormally enlarged spleen (splenomegaly) that may be detected upon routine examination or low levels of circulating red blood cells. A complete blood count (CBC) may demonstrate low levels of red blood cells or elevated levels of platelets or white blood cells. Since blood cell counts vary at different times in affected individuals, blood counts are not definitive in diagnosing primary myelofibrosis. Surgical removal and microscopic examination of bone marrow tissue (biopsy) is often used to confirm a suspected diagnosis of primary myelofibrosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:238606", "name_zh": "原发性直立性震颤", "Name": "Primary orthostatic tremor", "disease_name": "Primary Orthostatic Tremor", "synonyms": "idiopathic orthostatic tremor", "disease-overview": "", "symptoms": "The main symptom of primary orthostatic tremor is the occurrence of a rapid tremor affecting both legs while standing. A tremor is involuntary, rhythmic contractions of various muscles. Orthostatic tremor causes feelings of vibration, unsteadiness or imbalance in the legs. The tremor associated with primary orthostatic tremor has such high frequency that it may not visible to the naked eye but can be palpated by touching the thighs or calves, by listening to these muscles with a stethoscope, or by electromyography. The tremor is position-specific (standing) and disappears partially or completely when an affected individual walks, sits or lies down. In many cases, the tremor becomes progressively more severe and feelings of unsteadiness become more intense. Some affected individuals can stand for several minutes before the tremor begins; others can only stand momentarily. Eventually, affected individuals may experience stiffness, weakness and, in rare cases, pain in the legs. Orthostatic tremor, despite usually becoming progressively more pronounced, does not develop into other conditions or affect other systems of the body.", "causes": "The exact cause of primary orthostatic tremor is unknown (idiopathic). Some researchers believe that the disorder is a variant or subtype of essential tremor. Other researchers believe the disorder is a separate entity. Some individuals with primary orthostatic tremor have had a family history of tremor suggesting that in these cases genetic factors may play a role in the development of the disorder. However, more research is necessary to determine the exact, underlying cause(s) of primary orthostatic tremor.", "affected": "Primary orthostatic tremor affects females slightly more frequently than males. Because many affected individuals of primary orthostatic tremor often go unrecognized or misdiagnosed, the disorder is believed by some to be under-diagnosed, making it difficult to determine the true frequency of this disorder in the general population.", "related-disorders": "Tremors, involuntary quivering, or trembling movements can occur in association with many disorders. They may occur at any age and may be rhythmic or intermittent. Tremors mainly occur in disorders of the central nervous system, and especially in disorders of the cerebellum or basal ganglia. Examples of cerebellar diseases might be tumors of the cerebellum, multiple sclerosis involving the cerebellum, or a degenerative disease such as spinocerebellar degeneration. Examples of disorders of the basal ganglia include Parkinson’s disease (discussed in more detail below), Wilson’s disease, and many other rare and common disorders. Tremor may also occur as a result of anxiety, medication, or be of unknown cause (idiopathic).", "diagnosis": "A diagnosis of primary orthostatic tremor is based upon a thorough clinical evaluation, a detailed patient history, and supported by specialized tests such as a surface electromyogram (EMG). Misdiagnosis is common. Many individuals may be initially suspected of having a psychogenic disorder (a disorder caused by a psychological cause rather than a physical one).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:171", "name_zh": "原发性硬化性胆管炎", "Name": "Primary sclerosing cholangitis", "disease_name": "Primary Sclerosing Cholangitis", "synonyms": "chronic obliterative cholangitis", "disease-overview": "", "symptoms": "Primary sclerosing cholangitis primarily involves the bile ducts. The formation of bile is one of the functions of the liver. Bile is a fluid that contains water, certain minerals that carry an electric charge (electrolytes), and other materials including bile salts, phospholipids, cholesterol, and an orange-yellow pigment (bilirubin) that is a byproduct of the natural breakdown of the hemoglobin of red blood cells. Bile flow accomplishes two important tasks within the body, it aids in digestion and absorption of dietary fats, vitamins, and other nutrients and helps eliminate excess cholesterol, bilirubin, waste, and toxins from the body. Therefore, a problem with normal bile flow often results in malabsorption of vital nutrients and the accumulation of toxic materials in the body.", "causes": "Primary sclerosing cholangitis is a multifactorial disorder, which means that several different factors such as genetic, environmental and immunologic ones occurring in combination are necessary for the development of the disorder. The specific factors involved in the development of PSC have not been conclusively identified.", "affected": "Primary sclerosing cholangitis is a rare disorder that affects males twice as often as females. Although it may affect individuals of any age, the disorder most often occurs in middle-aged adults. The exact incidence and prevalence of the disorder is unknown. One estimate places the incidence at approximately 1 person per each 100,000 in the general population in the United States or Europe. Some studies suggest that the incidence of PSC is increasing. PSC is one of the leading reasons people require a liver transplant in the United States. In Nordic countries, PSC is the number one cause for a liver transplant.", "related-disorders": "Symptoms of the following disorders can be similar to primary sclerosing cholangitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Primary biliary cholangitis (PBC) is a rare liver disorder that primarily affects females and typically becomes apparent during middle age. It is characterized by yellow discoloration of the skin (jaundice) associated with obstruction and inflammation of the bile ducts (cholestasis). Additional symptoms include fatigue, pain in the upper right portion of the abdomen, diarrhea, itching (pruritus), dry eyes, dry mouth, swelling of the feet and ankles, and the formation of small fatty deposits (xanthomas) on the skin around the eyes or in the skin creases of the palms, soles, elbows or knees. In some cases, serious complications can develop including cirrhosis, portal hypertension, osteoporosis, and vitamin deficiencies. Affected individuals are at risk of developing liver cancer. Although the exact cause of PBC is unknown, various factors including immunologic, genetic, and environmental ones are believed to play a role in the development of the disorder. (For more information on this disorder, choose primary biliary cholangitis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:100069", "name_zh": "词义性痴呆", "Name": "Primary Visual Agnosia", "disease_name": "Primary Visual Agnosia", "synonyms": "agnosis, primary", "disease-overview": "Primary visual agnosia is a rare neurological disorder characterized by the total or partial loss of the ability to recognize and identify familiar objects and/or people by sight. This occurs without loss of the ability to actually see the object or person. The symptoms of visual agnosia occur as a result of damage to certain areas of the brain (primary) or in association with other disorders (secondary).", "symptoms": "People with primary visual agnosia may have one or several impairments in visual recognition without impairment of intelligence, motivation, and/or attention. Vision is almost always intact and the mind is clear. Some affected individuals do not have the ability to recognize familiar objects. They can see objects, but are unable to identify them by sight. However, objects may be identified by touch, sound, and/or smell. For example, affected individuals may not be able to identify a set of keys by sight, but can identify them upon holding them in their hands.", "causes": "Primary visual agnosia is a rare neurological disorder that occurs as a result of damage to the brain. Symptoms develop due to the inability to retrieve information from those damaged areas that are associated with visual memory. Lesions may occur as a result of traumatic brain injury, stroke, tumor, or overexposure to dangerous environmental toxins (e.g., carbon monoxide poisoning). In some cases, the cause of the brain damage may not be known. Symptoms may vary, according to the area of the brain that is affected.", "affected": "Primary visual agnosia is an extremely rare neurological disorder that affects males and females in equal numbers. The first detailed account of visual agnosia in the medical literature occurred in 1890.", "related-disorders": "The following disorders may precede the development of primary visual agnosia. They can be useful in identifying an underlying cause of some forms of this disorder.", "diagnosis": "A variety of psychophysical tests can be conducted to pinpoint the nature of the visual process that is disrupted in an individual. Brain damage that causes visual agnosia may be identified through imaging techniques, including computed tomography (CT scan) and magnetic resonance imaging (MRI).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70475", "name_zh": "放射性直肠炎", "Name": "Proctitis", "disease_name": "Proctitis", "synonyms": "Antibiotic-Induced Proctitis", "disease-overview": "Proctitis is a chronic inflammatory disease arising in the rectum and characterized by bloody diarrhea.  There are two types of proctitis, ulcerative and gonorrheal, which are differentiated by the means in which they are contracted. Gonorrheal proctitis is transmitted through sexual contact.", "symptoms": "Symptoms of proctitis are most frequently pain in the rectal area and a frequent desire to pass feces.  Bloody diarrhea, painful defecation and bleeding in the rectal area are also common.  Diarrhea may be followed by constipation with spasm and severe straining of the rectal muscles (tenesmus).  In some cases, stools may be well formed but surrounded by blood and mucus.", "causes": "Proctitis can be caused by the pus-producing bacteria gonococci and by the herpes simplex virus, primary and secondary syphilis, chlamydia trachomatis and the human papilloma viruses.  Gonococcal Proctitis usually results from passive anal intercourse with men who have infection in the canal that empties urine from the bladder (urethra).", "affected": "Proctitis is increasing in incidence.  Gonococcal Proctitis is most frequently found in women and homosexual men who practice anal-receptive intercourse.", "related-disorders": "Symptoms of the following disorders can be similar to those of Proctitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ulcerative Colitis is an acute inflammation of the large intestine (colon) characterized by multiple, irregular, superficial ulcerations.  The inflammation results in thickening of the wall of the colon with scar tissue and polyp-like growths.  The primary symptom of Ulcerative Colitis is bloody diarrhea.  The disease may involve only one side of the colon or it may eventually spread throughout the entire large intestine.  (For more information on this disorder, choose Ulcerative Colitis as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:217260", "name_zh": "进行性多病灶脑白质病", "Name": "Progressive multifocal leukoencephalopathy", "disease_name": "Progressive Multifocal Leukoencephalopathy", "synonyms": "PML", "disease-overview": "Progressive multifocal leukoencephalopathy (PML) (1) is a neurological disorder characterized by destruction of cells that produce myelin, an oily substance that helps protect nerve cells in the brain and spinal cord, also known as central nervous system (CNS) white matter. It is caused by a virus called JC virus (JCV), named after the initials of the patient in whom it was first discovered. The virus is widespread, found in up to 85% of the general adult population. It remains inactive in healthy individuals and causes disease only when the immune system has been severely weakened, such as in people with HIV/AIDS, hematological malignancies and those receiving certain immunosuppressant medications. Altogether, PML occurs in approximately one in 200,000 people. Each year, it is estimated that 4,000 people develop PML in the United States and Europe combined. The term progressive in PML means that the disease continues to get worse and often leads to serious brain damage. The term multifocal means that JCV causes disease in multiple parts of the brain. However, it is possible for an individual with PML to have only one brain lesion instead of several lesions. The term leukoencephalopathy means that the disease affects mainly the white matter of the brain or myelin, although in some patients the gray matter neurons are also involved.", "symptoms": "Symptoms of PML vary from person to person because lesions may occur anywhere in the central nervous system. Most patients present with subacute neurological damage, which may include some degree of mental impairment and a variety of other symptoms such as vision loss, speech disturbances, facial drooping, weakness, problems with coordination, gait and sensory loss. In addition, approximately one third of PML patients can present with seizures during the course of their disease.", "causes": "The JC virus usually enters the bloodstream during childhood. It can be found via blood tests in healthy children with no symptoms of PML. Because the virus is also frequently found in the urine of healthy individuals, it is possible that the initial infection may occur through urine-oral contamination.", "affected": "In the advent of the human immunodeficiency virus (HIV) epidemic, PML was soon recognized as a major opportunistic infection of acquired immunodeficiency syndrome (AIDS) occurring in up to 5% of patients.(8) Based on a study of 91 cases of PML from 1994 to 2019, 49% of PML patients have HIV infection, 31% have hematological malignancies, 30% have exposure to chemotherapeutic medications and 19% have exposure to monoclonal antibody therapies.(9)", "related-disorders": "Inflammatory Progressive Multifocal Leukoencephalopathy", "diagnosis": "The brain MRI is the first step in diagnosing PML. Cerebrospinal fluid, collected via a spinal tap, is also a dependable way to diagnose PML. Based on the 2013 consensus criteria, the diagnosis of PML can be made by the presence of positive CSF JC virus PCR in conjunction with typical clinical and imaging findings. Alternatively, brain biopsy may be necessary in some patients to confirm the diagnosis.(33) Due to the expanded population of individuals at risk for PML, early diagnosis has become of critical importance.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98261", "name_zh": "进行性肌阵挛性癫痫", "Name": "Progressive myoclonic epilepsy", "disease_name": "Progressive Myoclonus Epilepsy", "synonyms": "Epilepsy, Myoclonic Progressive Familial", "disease-overview": "Progressive myoclonus epilepsy (PME) is a group of conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). Patients may have more than one type of seizure, such as petit mal or grand mal. PME is progressive, but the rate of progression may be quick or slow, depending on the underlying disease.", "symptoms": "Myoclonus is usually a greater problem than seizures for patients with PME because it is not helped much by the anticonvulsants that do help to control the seizures.  The twitching occurs more frequently in the early part of the day or when the patient is under stress of various sorts.  Positive myoclonus alludes to jerking of the hands and arms.  Negative myoclonus refers to the sudden onset of loss of control of the muscles of the legs that leads to falls and injuries.  As the frequency of myoclonic jerks increases, it may build to a crescendo myoclonus or a convulsion, after which the condition improves for a few days.", "causes": "There are many different types of PME, each with a different underlying cause.", "affected": "EPM1 occurs throughout the world but the prevalence is highest in the North African countries of Tunisia, Algeria and Morocco and also in Finland.  The prevalence in Finland is approximately 1/20,000 births.", "related-disorders": "Symptoms of the following disorders can be similar to those of Progressive Myoclonus Epilepsy.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "In general, myoclonus is a group of movement disorders characterized by sudden, involuntary contractions of a skeletal muscle or group of muscles. It may be divided into two groups, rhythmical and arrhythmic myoclonus. Myoclonus may accompany a number of neurological diseases including seizure disorders, brain injuries, hereditary brain disorders, viral infections, and brain tumors.  Hereditary, and idiopathic forms also exist.  In Postanoxic Myoclonus the disorder begins after the brain is deprived of oxygen.  (For more information about other types of myoclonus, choose myoclonus as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2762", "name_zh": "进行性骨发育异常", "Name": "Progressive osseous heteroplasia", "disease_name": "Progressive Osseous Heteroplasia", "synonyms": "POH", "disease-overview": "", "symptoms": "The symptoms of POH are usually present at birth (congenital) or within the first few weeks of life, and they tend to progress slowly and asymmetrically as an affected individual grows older. Infants with POH typically have a maculopapular rash (with patchy areas of bone within the dermis). Initially, affected skin may feel abnormally rough.", "causes": "Some cases of POH may be caused by disruption or changes (mutations) of the GNAS gene.  About three-fourths of examined POH patients have inactivating GNAS gene mutations.", "affected": "More than 50 affected individuals with POH have been identified around the world. Although the majority of the cases initially reported occurred in females, the disorder appears to affect males and females in similar numbers. Because POH often goes unrecognized or misdiagnosed, determining the true frequency of the disorder in the general population is difficult. In the most severe cases, symptoms are usually apparent at birth or within the first few weeks of life. Symptoms usually progress as affected individual’s age.", "related-disorders": "Symptoms of the following diseases may be similar to those of progressive osseous heteroplasia. Comparisons may be useful for differential diagnosis:", "diagnosis": "The diagnosis of POH may be confirmed by a thorough clinical evaluation, characteristic physical findings, and tests that demonstrate the presence of heterotopic ossification (e.g., x-ray or roentgenograms and CT scans) with characteristic appearance for POH in the deep connective of the fascia, muscles, tendons, muscles and/or ligaments.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:683", "name_zh": "进行性核上性麻痹", "Name": "Progressive supranuclear palsy", "disease_name": "Progressive Supranuclear Palsy", "synonyms": "nuchal dystonia dementia syndrome", "disease-overview": "", "symptoms": "The signs and symptoms of PSP vary from person to person, but patients generally fall into one of four clinical syndromes (phenotypes): Richardson syndrome, atypical Parkinsonism, corticobasal syndrome, and pure akinesia and gait freezing. Less commonly, patients present with cognitive loss and no motor signs.", "causes": "The cause of PSP is not known, but it is a form of tauopathy, in which abnormal phosphorylation of the protein tau is associated with destruction of vital protein filaments in nerve cells. This neurofibrillary degeneration is hypothesized to cause the death of nerve cells, and most experimental treatments are aimed at preventing tau pathology. The signs and symptoms of PSP are determined by the distribution of tau pathology in the brain. Recent work suggests that the disease is at least partly genetic. Many researchers now believe that various genetic and environmental factors interact to produce this disorder.", "affected": "PSP is under-diagnosed, so it is difficult to know how many people are affected. This disorder is believed to affect at least 20,000 people in the United States. According to some reports, PSP is estimated to affect as many as 5-17 in 100,000 people, but recent autopsy studies found PSP pathology in 2-6% of elderly people that had no diagnosis of PSP before death. The onset of this disorder occurs between 45 and 75 years of age, with the average age of onset at about 63 years. Men and women are affected more or less equally.", "related-disorders": "Symptoms of the following disorders can resemble those of progressive supranuclear palsy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of progressive supranuclear palsy may be suspected based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic physical findings.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2965", "name_zh": "催乳素瘤", "Name": "Prolactinoma", "disease_name": "Prolactinoma", "synonyms": "amenorrhea-galactorrhea, nonpuerperal", "disease-overview": "A prolactinoma is a benign tumor of the pituitary gland (adenoma) that produces an excessive amount of the hormone prolactin. In women, hyperprolactinemia is characterized by irregular menstrual periods or even absence of periods, infertility and production of breast milk in women who are not pregnant (galactorrhea). The most common symptom in men is impotence.", "symptoms": "Many of the symptoms of prolactinoma are caused by an excessive amount of prolactin in the blood (hyperprolactinemia) which decreases the ovarian and testicular function. In women, prolactinoma is characterized by irregular menstrual periods, infertility and production of breast milk in women who are not pregnant (galactorrhea). Some women experience diminished sexual desire or painful intercourse. The most common symptom in men is impotence, with Infertility and decreased muscle power being of concern. Both genders can develop low bone mass (osteopenia to osteoporosis).", "causes": "The cause of pituitary tumors is unknown. Most pituitary tumors are sporadic and not associated with genetic factors that are inherited or can be passed on to children.", "affected": "Pituitary tumors that produce enough prolactin to affect health occur in approximately 14 out of 100,000 people.", "related-disorders": "Comparisons with the following conditions may be useful for a differential diagnosis:", "diagnosis": "All patients who are shown to have a pituitary adenoma on MRI or CT imaging should have a serum prolactin level checked and if their prolactin level is >150-200 ng/ml the patient likely harbors a prolactin secreting tumor which should be treated with a dopamine agonist medication rather than surgery. If the level is less, this could be due to a tumor <10 mm or lack of normal inhibition by hypothalamic dopamine which then permits the normal prolactin secreting cells to hypersecrete (stalk effect). The effect of certain medications, recreational drugs, macroprolactin (big prolactin molecule with no effect on the body), other medical conditions (like low thyroid function, hepatic or renal insufficiency) should be evaluated for these lower levels. A specialist consultation should be considered for such patients by an experienced endocrinologist.", "therapies": "Prolactinoma is treated with medications that act like dopamine (dopamine agonists) such as bromocriptine, quinagolide and cabergoline because dopamine inhibits prolactin secretion. These medications reduce the size of the tumor and reduce the amount of prolactin secretion in approximately 80-90% of patients. Surgery may be recommended if medical therapy is not effective or bothersome side effects (dizziness, mental fogginess, nausea, vomiting). For both medical therapy and surgery, cure rates depend on the size and location of the tumor and the prolactinoma can recur in some affected individuals. Radiation therapy is sometimes used to control growth of a prolactinoma if no response to medications and not amenable to surgery."}
{"OrphaCode": "ORPHA:35", "name_zh": "丙酸血症", "Name": "Propionic acidemia", "disease_name": "Propionic Acidemia", "synonyms": "propionyl-CoA carboxylase deficiency", "disease-overview": "", "symptoms": "Symptoms most commonly develop during the first weeks of life and may include vomiting, listlessness (lethargy), low muscle tone (hypotonia), failure to grow and gain weight at the expected rate (failure to thrive), and dehydration. Approximately 30% of affected infants may also develop seizures. The recurrence or worsening of symptoms may be associated with an infection, constipation, or consumption of high amounts of protein. In some affected infants, episodes of symptoms may alternate with periods of apparently normal health and development.", "causes": "Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes resulting in a deficiency of the enzyme propionyl-CoA carboxylase. This enzyme is required for the proper breakdown of the amino acids isoleucine, valine, threonine, and methionine. These amino acids are needed for proper growth and development. Propionyl-CoA carboxylase is also involved in the breakdown of cholesterol, certain fatty acids, and other substances (metabolites) necessary for metabolic actions or processes. Propionyl-CoA carboxylase deficiency leads to accumulation of toxic chemicals (metabolites). Some of these accumulated chemicals harm the mitochondria (power houses inside cells responsible for energy production). [16-20].", "affected": "Propionic acidemia affects males and females in equal numbers. The prevalence varies among different populations and regions. It affects around 1/100,000 to 1/250,000 individuals in most regions of the world. In the Middle East, where there is a high rate of marriage between blood relatives (consanguineous), around 1/20,000 to 1/45,000 individuals are affected. There are around 1/5,000 to ½,000 individuals with this disease in some Saudi tribes. The highest reported rate of propionic acidemia, with 1/1,000 people, has been reported in Greenlandic Inuits [21-29].", "related-disorders": "Symptoms of the following disorders may be similar to those of propionic acidemia. Comparisons may be useful for a differential diagnosis: isolated methylmalonic academia; maple syrup urine disease; non-ketotic hyperglycinemia; biotinidase deficiency; urea cycle disorders; pyruvate dehydrogenase complex deficiency; and pyruvate carboxylase deficiency.  (For more information on these disorders, search for them in the Rare Disease Database.)", "diagnosis": "Propionic acidemia can be identified at birth through expanded newborn screening by measuring levels of certain metabolites such a propionylcarnitine and methionine in a blood sample. [9, 30].", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:745", "name_zh": "遗传性蛋白C缺乏所致严重遗传性血栓症", "Name": "Protein C Deficiency", "disease_name": "Protein C Deficiency", "synonyms": "Hereditary thrombophilia due to protein C deficiency", "disease-overview": "", "symptoms": "Individuals with the mild form of protein C deficiency are at risk for developing blood clots, particularly in the veins (venous thromboembolisms). They are also at risk for a skin disease following treatment with a blood thinner called warfarin (warfarin-induced skin necrosis). Whether protein C deficiency increases the risk of blood clots in the arteries (arterial thrombosis) is not fully understood.", "causes": "Protein C deficiency is caused by an alteration (mutation) in the PROC gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Protein C deficiency affects men and women in equal numbers. The prevalence of the milder form is about 1 in 200-500 people in the general population. Prevalence is the number of people in a population that have a disorder at a given time. The prevalence of severe protein C deficiency is about 1 in 500,000-750,000 people in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of protein C deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of protein C deficiency is based upon identification of characteristic symptoms (e.g. repeated blood clot formation), a detailed patient and familial history (e.g. history of blood clots in the family), a thorough clinical evaluation and certain specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:300", "name_zh": "双功能酶缺乏", "Name": "Protein S Deficiency", "disease_name": "Protein S Deficiency", "synonyms": "hereditary thrombophilia due to protein S deficiency", "disease-overview": "Protein S deficiency is a rare genetic disorder of blood coagulation that is caused by a variation in the PROS1 gene. This variation is inherited in an autosomal dominant manner. Affected individuals are at an increased risk of developing blood clots in the legs (deep venous thrombosis), which can break off and travel to the lungs, which is termed pulmonary embolism. Affected individuals are deficient in protein S, which is a specialized blood protein. Specifically, protein S is involved in inhibiting coagulation. This means that it helps to prevent the blood from clotting too much. Affected individuals who inherit one abnormal protein S gene are at risk for developing blood clots. Although very rare, there is a severe form that is present at birth (congenital) due to the presence of 2 abnormal protein S genes that can potentially cause widespread small clots in the body and life-threatening complications in infancy. Occasionally protein S deficiency may be acquired as a result of acquired conditions such as kidney disease (i.e., nephrotic syndrome), pregnancy, or the use of oral contraceptives.", "symptoms": "Individuals with protein S deficiency are at risk for developing blood clots, specifically blood clots that begin in veins (venous thromboembolisms). Veins are the blood vessels in the body that carry blood to the heart. The exact risk of a blood clot, the age of onset of the disease, the severity of the disease, and the number and frequency and location of blood clots will vary greatly among affected individuals. This is due, in part, to the amount of residual protein S activity there is in the body. Some individuals with protein S deficiency due to inheritance of a single abnormal protein S gene (termed heterozygous) may never develop a blood clot and others may not develop one until adulthood.", "causes": "Protein S deficiency is caused by a variation in the PROS1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Protein S deficiency is a rare disorder that affects both men and women. The exact prevalence the common form of protein S deficiency (the number of people who have the disorder in a given population) and incidence (new cases identified each year) of the disorder overall is unknown. Severe protein S deficiency is an extremely rare disorder and often goes undiagnosed or misdiagnosed making it difficult to determine its frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of protein S deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of protein S deficiency is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Some indications of a possible protein S deficiency include blood clots that develop before the age of 50 without an obvious cause, recurrent blood clots, blood clots in a person in a family with history of blood clot formation, and blood clots that occur in sites that are not normally affected by blood clots including veins in the small bowel (mesenteric veins), veins of the liver (portal veins), and veins in the brain (cerebral veins).", "therapies": "There is not a specific therapy for patients with protein S deficiency. The use of anticoagulant therapy however is highly effective in the treatment and prevention of blood clots in patients with the common type of protein S deficiency (due to inheritance of one abnormal protein S gene). Such therapies are generally effective regardless of the underlying risk factor or genetic abnormality predisposing a patient to developing a blood clot."}
{"OrphaCode": "ORPHA:744", "name_zh": "Proteus综合征", "Name": "Proteus syndrome", "disease_name": "Proteus Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "Proteus syndrome may affect bone and connective tissue, fatty tissues, skin, central nervous system and internal organs (viscera). Bone, connective tissue and fat are the most commonly affected tissues in the body. The specific symptoms and severity vary greatly from person to person. Some individuals may exhibit only a few, mild symptoms of Proteus syndrome, making diagnosis challenging.", "causes": "Proteus syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic). The variability of symptoms associated with Proteus syndrome is due in part to the ratio of cells with and without the gene variant. When all cells have the AKT1 gene variant, the condition is not compatible with life. Proteus syndrome is not inherited but is caused by a mutation that occurs during development. Researchers believe that this somatic mutation occurs randomly for no apparent reason (sporadically).", "affected": "Proteus syndrome is an extremely rare disorder. It affects males slightly more than females. Approximately 200 patients have been reported in the medical literature and it seems to affect people of all ethnic and racial groups. However, researchers with extensive experience in Proteus syndrome reviewed these reports and determined that just fewer than 100 met the stringent diagnostic criteria for Proteus syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of Proteus syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Diagnosis of Proteus syndrome is made using published clinical diagnostic criteria and molecular testing. Confirming a diagnosis of Proteus syndrome can be difficult and the interpretation of the clinical diagnostic criteria is controversial. The identification of the causative gene variant in AKT1 can allow molecular diagnosis, although this too can be challenging. The gene change is not present in the blood and therefore DNA testing must be performed on biopsies of affected tissue, most often skin. Other diagnostic techniques that may be used in an evaluation include plain x-rays (radiography), computed tomography (CT) scans for skull lesions or lung cysts and magnetic resonance imaging (MRI) of the brain, abdomen, pelvis and limbs. Ultrasound is used to detect scrotal or ovarian masses and can be used to evaluate deep vein thromboses.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2970", "name_zh": "梨状腹综合征", "Name": "Prune belly syndrome", "disease_name": "Prune Belly Syndrome", "synonyms": "Abdominal Muscle Deficiency Syndrome", "disease-overview": "Prune-Belly syndrome, also known as Eagle-Barrett syndrome, is a rare disorder characterized by partial or complete absence of the stomach (abdominal) muscles, failure of both testes to descend into the scrotum (bilateral cryptorchidism), and/or urinary tract malformations. The urinary malformations may include abnormal widening (dilation) of the tubes that bring urine to the bladder (ureters), accumulation of urine in the ureters (hydroureter) and the kidneys (hydronephrosis), and/or backflow of urine from the bladder into the ureters (vesicoureteral reflux). Complications associated with Prune-Belly syndrome may include underdevelopment of the lungs (pulmonary hypoplasia) and/or chronic renal failure. The exact cause of Prune-Belly syndrome is not known.", "symptoms": "Prune Belly syndrome is characterized by partial absence of some or most abdominal muscles giving rise to a wrinkled or prune-like appearance.  Often, the attachments of the muscles to the bones are present, but the muscles diminish in size and thickness over the bladder.  The abdomen appears large and lax, the abdominal wall is thin and the intestinal loops can be seen through the thin abdominal wall.  Skin folds may radiate from the navel or occur as transverse folds across the abdomen.  A midline crease from the navel to pubic area may be present in some cases.  The navel may appear as a vertical slit, or as a linear central scar, but it can also appear normal.  Sometimes the navel is connected with the bladder through a canal (urachus) or a cyst.  The chest is often deformed.  Flaring of the rib margins or a horizontal depression under the chest (Harrison groove) can appear in many children born with Prune Belly Syndrome.  Narrowing of the chest in the transverse direction (pigeon breast) may also occur.", "causes": "The exact cause of Prune Belly syndrome is unknown.  There are several theories.", "affected": "Prune Belly syndrome is a very rare disorder that is present at birth.  The disorder affects mostly males but a few female cases have been described in the medical literature.", "related-disorders": "", "diagnosis": "The diagnosis is usually obvious from birth, but care and time are required to determine the location and number of abnormalities. A full understanding of the complications will involve imaging tests such as ultrasound, X-ray, and, in order to determine the extent of involvement of the genitourinary tract, intravenous pyelogram (IVP). An IVP makes use of a dye to map the degree of involvement of the kidneys and their ducts.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:221046", "name_zh": "皮肤异色症伴中性粒细胞减少", "Name": "Prurigo Nodularis", "disease_name": "Prurigo Nodularis", "synonyms": "prurigo nodularis of Hyde", "disease-overview": "", "symptoms": "The rash associated with prurigo nodularis varies in appearance from patient to patient and is thought to occur from excessive, chronic scratching and picking due to sensations of intense itchiness (pruritus), burning and stinging. Pruritus associated with PN is usually severe; occurs in episodes but can be continuous; and is chronic, lasting longer than 6 weeks. It is typically worsened by sweat, heat, clothing, and stress.", "causes": "Although the exact cause of prurigo nodularis is not known, symptoms are thought to stem from dysregulation of the nerves and immune system in the skin.", "affected": "The number of new cases of PN per year (incidence) in the US is estimated to be 72 per 100,000 people, or 87,634 people a year in people aged 18 to 64 years old. PN is more common in the elderly, and in women (54.2%) compared to men (45.5%), with women experiencing more severe pruritus. While PN can occur at any age, it is more likely to occur between ages 40 to 69 years old. Younger patients with PN are more likely to have other skin disorders associated with allergic states, such as eczema. PN is 3.4 times more common in African Americans. It is more prevalent among patients with HIV infection.", "related-disorders": "PN is typically diagnosed based on clinical symptoms. Due to this and symptom overlap with other conditions that cause severe, chronic pruritus, PN can be mistaken for other skin diseases and can co-occur with some of them as well. These include:", "diagnosis": "For the best accuracy in diagnosis and to distinguish rashes of PN from similar skin disorders, clinical examination of signs and symptoms by a dermatologist combined with microscopic examination of lesions is recommended. Microscopic examinations include dermoscopy and biopsy, and these two methods combined together provide the best likelihood of an accurate diagnosis. With dermoscopy, dermatologists use a magnifying scope that shines light onto the skin to examine its structure through a portion of the dermis. It is a relatively new exam that was originally used to distinguish between different skin cancers but is now used to diagnose other skin disorders, including inflammatory and infectious ones. It is non-invasive and therefore not painful or likely to cause infection. Biopsy, on the other hand, is simple procedure where portions of the skin are removed with a blade to allow dermatologists to see the skin in greater detail under a microscope.", "therapies": "Standard treatments for PN are both behavioral and medical. No FDA-approved treatment currently exists for PN, but many medications used to treat other skin disorders or immune dysfunction are used to treat PN."}
{"OrphaCode": "ORPHA:577", "name_zh": "粘脂贮积症III型", "Name": "Mucolipidosis type III", "disease_name": "Pseudo Hurler Polydystrophy", "synonyms": "ML IIIA", "disease-overview": "Pseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of certain complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues of the body. The symptoms of this disorder are similar, but less severe than those of I-cell disease (mucolipidosis type II) and may include progressive joint stiffness, curvature of the spine (scoliosis), and/or skeletal deformities of the hands (e.g., claw-hands). Growth delays accompanied by deterioration of the hip joints typically develop in children with pseudo-Hurler polydystrophy. Additional symptoms may include clouding of the corneas of the eyes, mild to moderate coarseness of facial features, mild intellectual disability, easy fatigability, and/or heart disease. Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait.", "symptoms": "In most cases, children with pseudo-Hurler polydystrophy do not exhibit symptoms until 2-4 years of age. Specific symptoms and rate of progression may vary from case to case although the disorder is often slowly progressive.", "causes": "Pseudo-Hurler polydystrophy is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Pseudo-Hurler polydystrophy affects males and females in equal numbers. The prevalence of the disorder is unknown. Pseudo-Hurler polydystrophy is often misdiagnosed making it difficult to determine its true frequency in the general population. One estimate places the frequency at 1 in 1 million births.", "related-disorders": "Symptoms of the following disorders can be similar to those of pseudo-Hurler polydystrophy. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of pseudo-Hurler polydystrophy may be suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. A variety of specialized tests may confirm a diagnosis. These tests include detecting elevated lysosomal enzyme activity in serum or decreased enzyme levels in white blood cells or cultured connective tissue cells (fibroblasts).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:750", "name_zh": "假性软骨发育不全", "Name": "Pseudoachondroplasia", "disease_name": "Pseudoachondroplasia", "synonyms": "PSACH", "disease-overview": "", "symptoms": "Pseudoachondroplasia shows variable expression with the severity varying within and between families. Infants with pseudoachondroplasia have normal birth parameters and cannot be distinguished from unaffected newborns. Generally, the first sign is diminished linear growth starting between 9 to 12 months first affecting length and eventually height, falling approximately two years behind the standard growth curve. Disproportionate short stature becomes more apparent with age. Affected children usually begin to walk between 12-18 months but gait is abnormal and described as ‘waddling’ reflecting underlying skeletal abnormalities involving the hips. The face has been described as angular. Disproportionate shortening of the arms and legs becomes apparent between 3-5 years of age. The hands and toes are very short, have redundant skin folds and marked joint laxity. Interestingly in contrast, the elbow may have limited extension. Joint laxity at the knees contributes to the lower extremity deformities that range from bowing (genu varum), knock knee (genu valgum) deformities or bowing in one leg and a knock knee deformity in the other called a windswept deformity. Surgical correction is generally required but should be delayed to get maximum sustainable correction.", "causes": "Mutations in the COMP gene cause pseudoachondroplasia. Genes provide instructions for creating proteins that play critical roles in many functions of the body. When a gene mutation occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. COMP mutations specifically affect chondrocytes in the growth centers, which are the cells that specify for linear growth. The articular cartilage at the ends of all the long bones also contains chondrocytes and is easily eroded causing osteoarthritis and painful joints.", "affected": "The exact birth prevalence of pseudoachondroplasia is unknown, but estimated to be 1 in 50,000-100,000. Males and females are equally affected.", "related-disorders": "Symptoms of the following skeletal dysplasia disorders can be similar to those of pseudoachondroplasia and are considered in the differential diagnosis.", "diagnosis": "The diagnosis of pseudoachondroplasia is based upon identification of characteristic clinical and radiographic findings, detailed patient history and mutational testing. The diagnosis is rarely made at birth because short stature is not present. The distinctive features develop over time, and this sets it apart from other short stature conditions.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:132", "name_zh": "丁酰胆碱酯酶缺乏", "Name": "Pseudocholinesterase Deficiency", "disease_name": "Pseudocholinesterase Deficiency", "synonyms": "Apnea, Postanesthetic", "disease-overview": "Pseudocholinesterase deficiency is an uncommon genetic disorder that makes an affected person very sensitive to any of several anesthetic agents, especially those derived from the drug known as choline. When anesthetic drugs such as succinylcholine or mivacurium are administered to a susceptible person, the muscles that work the lungs may become paralyzed. Mechanical ventilation is essential until the excess anesthetic agent is metabolized and normal breathing is resumed.", "symptoms": "Individuals with pseudocholinesterase deficiency have a shortage or absence of the enzyme pseudocholinesterase in their blood serum.  If the drug succinylcholine (or another anesthetic derivative of choline) is given during surgery, the respiratory muscles become paralyzed and the patient stops breathing (apnea).  Artificial respiration (mechanical ventilation) may be necessary until the drug is eliminated from the body and the affected individual is able to resume breathing.  If the person with pseudocholinesterase deficiency is not exposed to a choline-derived anesthetic, he or she may never be aware of having a deficiency of the enzyme pseudocholinesterase.", "causes": "Pseudocholinesterase deficiency is inherited as an autosomal recessive trait.  The faulty gene is located on chromosome 3 (3q26.1-q26.2).", "affected": "Pseudocholinesterase deficiency is present at birth and occurs in approximately 1 out of every 1,500 to 2,500 people in the United States.  Among Caucasian Americans, it seems to affect males almost twice as often as females.", "related-disorders": "Apnea is the temporary cessation of breathing during sleep.  Infantile apnea refers to pauses in breathing during an infant’s sleep.  Apnea is called central apnea or diaphragmatic apnea when there are no chest movements during the pauses in breathing.  When there are chest movements but no passage of air through the mouth or nostrils, the disorder is known as obstructive apnea or upper airway apnea.  Central apnea followed by or intermixed with an obstructive apnea is called mixed apnea.  (For more information choose apnea as your search term in the Rare Disease Database.)", "diagnosis": "", "therapies": "Diagnosis and Treatment"}
{"OrphaCode": "ORPHA:97593", "name_zh": "假性甲状旁腺功能减退症", "Name": "Pseudohypoparathyroidism", "disease_name": "Pseudohypoparathyroidism", "synonyms": "", "disease-overview": "Pseudohypoparathyroidism (PHP) is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal amounts. Parathyroid hormone controls the amounts of calcium, phosphorus and vitamin D in bones and blood. This impacts bone growth and may cause facial and skeletal deformities. Affected individuals may have short stature, a round face and unusually short fourth fingers. They may also experience headaches, unusual sensations, weakness, fatigue, lack of energy, blurred vision, abnormal sensitivity (hypersensitivity) to light, body pains and weakness, muscle twitches and spasms, and intellectual disabilities. There are multiple subtypes of PHP, which are caused by harmful changes (variants) in certain genes, one of which is GNAS1. These subtypes show some variation in symptoms, and other hormones may also be affected (growth hormone, thyroid hormone, etc.). The symptoms of pseudohypoparathyroidism are usually first noticed in childhood. Possible treatments include calcium supplements, vitamin D supplements, low phosphate diets and growth hormone therapy. People with pseudohypoparathyroidism can lead a normal life.", "symptoms": "There are two types of PHP, type 1 and type 2. Type 1 is broken into subtypes 1a, 1b, and 1c. Pseudopseudohypoparathyroidism (PPHP) is a limited form of PHP-1a, where an individual has the physical symptoms but not the hormone problems. Type 1a, type 1b, and PPHP are the most common subtypes. Both type 1 and type 2 PHP are characterized by resistance to parathyroid hormone, resulting in elevated phosphate levels and low calcium levels in the blood. The low calcium levels in the blood seen in all types of PHP may lead to childhood seizures in some individuals. Involuntary sudden movements, such as seen with paroxysmal kinesigenic dyskinesia (PKD), have also been reported in affected individuals. Beyond these shared characteristics, type 1 and type 2 differ greatly. Additional symptoms of type 1 are well-characterized while little is known about type 2.", "causes": "Pseudohypoparathyroidism is inherited as an autosomal dominant condition and caused by changes (variants) in the GNAS gene. GNAS variants have been found in about 76% percent of affected individuals, with 38% of those individuals having an affected parent. In the remaining individuals, the cause is unknown.", "affected": "PHP is a rare disorder that affects both males and females. The prevalence of PHP and AHO has been estimated to be 0.79 per 100,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of PHP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss (monosomy) of one of the second sex chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. (For more information, choose Turner as your search term in the Rare Disease Database.)", "therapies": "Treatment of pseudohypoparathyroidism should aim to bring calcium and phosphorus levels into the normal range. This can be achieved using calcium supplements and vitamin D supplements, which promote reabsorption of calcium in the kidneys. Low-phosphate diets or medications that bind phosphate may be used to reduce the effects of high phosphorus levels. Growth hormone therapy may also be used to improve height."}
{"OrphaCode": "ORPHA:758", "name_zh": "弹性假黄色瘤", "Name": "Pseudoxanthoma elasticum", "disease_name": "Pseudoxanthoma Elasticum", "synonyms": "PXE", "disease-overview": "Pseudoxanthoma elasticum (PXE) is an inherited disorder caused by mutations in the ABCC6 transporter gene that affects connective tissue in some parts of the body. Elastic tissue in the body becomes mineralized; that is, calcium is deposited in the tissue. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. Clinicians first recognized PXE more than 100 years ago. Researchers have made a number of significant advances in the past few years.", "symptoms": "PXE results in a variety of signs and symptoms that vary in their number, type, and severity from person to person. Certain effects of PXE can cause serious medical problems, while others have less impact. Effects may include: skin changes, changes in the retina of the eye that may result in significant loss of central vision, changes in the cardiovascular system that may involve calcification of arteries and decreased blood flow in the arms and legs, and/or changes in the gastrointestinal system that may lead to bleeding in the stomach or intestines. At present, there is no way to predict the exact progression of the disorder for a particular individual. Some people have no skin lesions; others have no vision loss. Many people do not experience gastrointestinal complications or cardiovascular difficulties. A few have no manifestations of PXE except for a positive skin biopsy or irregular streaks resembling a blood vessel (angioid) in the retina of the eye. The effects of PXE and its rate of progression seem to have no discernible pattern.", "causes": "PXE is an inherited disorder caused by changes (mutations) in the ABCC6 transporter gene. ABCC6 is one of a group of genes that transport certain molecules back and forth across cell membranes. It isn’t known at this time what molecules ABCC6 transports, but it is thought that they may play a role in keeping the elastic fibers found in certain body tissues healthy.", "affected": "Estimates of the incidence of PXE range from 1 in 100,000 people to 1 in 25,000. However, the true incidence of PXE is not known in any population. It is likely that many individuals with PXE have not been diagnosed, particularly people with mild signs of PXE or those whose signs are not typical.", "related-disorders": "Symptoms of the following disorders may be similar to those of Pseudoxanthoma Elasticum. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Ehlers-Danlos syndrome is a rare inherited connective tissue disorder. It is characterized by the ability of affected individuals to flex their bodies beyond the normal range (articular hypermobility), to abnormally stretch their skin (hyperelasticity of the skin), and widespread tissue fragility (i.e., skin, blood vessels, and other tissues can rupture from even minor trauma). Many forms of Ehlers-Danlos Syndrome are inherited as an autosomal dominant genetic trait, but some forms of the disorder are inherited as either an autosomal recessive or an X-linked recessive genetic trait. (For more information on this disorder, choose Ehlers-Danlos as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:660053", "name_zh": "", "Name": "Psittacosis", "disease_name": "Psittacosis", "synonyms": "ornithosis", "disease-overview": "Psittacosis is an uncommon infectious disease that is most often transmitted to humans through exposure to infected birds, especially parrots, cockatiels, parakeets and similar pet birds. Psittacosis can affect the lungs and may cause inflammatory illness of the lungs (pneumonia). Additional common symptoms include fever, muscle pain (myalgia), headaches, and a dry cough.", "symptoms": "The symptoms and severity of psittacosis can vary greatly. Some individuals may not develop any symptoms (asymptomatic) or only have a very mild infection; others can develop serious widespread infection that affects several organ systems of the body. The incubation period, which is the time between exposure to the bacterium to symptom development, is anywhere from five to 15 days. The onset of symptoms may be abrupt or gradual (insidious). The associated symptoms tend to be nonspecific and common to many different conditions.", "causes": "Psittacosis is caused in humans by exposure to the bacterium, Chlamydia psittaci, which is most often transmitted to humans from infected birds, especially parrots and poultry, especially turkeys.", "affected": "Psittacosis affects males and females in equal numbers. Anyone who handles an infected bird is at risk of developing psittacosis. Since the disease can become epidemic in animals, discovery of a single case of the disease should be reported to local public health authorities. The number of report cases of psittacosis in the United States has varied, ranging from 50 to 200 per year. Many researchers believe the disorder is under-diagnosed and the true number of cases that occur per year is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of psittacosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of psittacosis is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests such as specialized blood tests that reveal characteristic antibodies, produced by the body in response to psittacosis infection. Antibodies are specialized proteins produced by the body to fight off foreign material such as bacteria.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:306498", "name_zh": "PTEN错构瘤肿瘤综合征", "Name": "PTEN hamartoma tumor syndrome", "disease_name": "PTEN Hamartoma Tumor Syndrome", "synonyms": "PHTS", "disease-overview": "The PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by changes (variants or mutations) of the PTEN tumor suppressor gene in egg or sperm cells (germline). These disorders are characterized by multiple hamartomas that can affect various areas of the body. Hamartoma is a general term for a benign tumor-like malformation composed of mature cells and tissue normally found in the affected area that have grown in a disorganized manner. Individuals with a variety of clinical diagnoses who ultimately have been found to carry a germline PTEN variant as the underlying cause are said to have PHTS.", "symptoms": "The primary findings in PHTS include increased risk for certain types of cancer, benign tumors and tumor-like malformations (hamartomas) and neurodevelopmental disorders. The symptoms of PHTS vary greatly from person to person and can develop at any age.", "causes": "PHTS is caused by a germline variant of PTEN, a tumor suppressor gene. PTEN stands for phosphatase and tensin homologue. A tumor suppressor is a gene that slows down cell division, repairs damage to the DNA of cells, and tells cells when to die, a normal process called apoptosis. Variants in a tumor suppressor gene often lead to uncontrolled cell growth manifesting as cancer. The PTEN gene regulates the production of an enzyme (the ‘phosphatase’ in PTEN’s name) which is believed to be important in stopping cell growth and starting apoptosis. Researchers believe that the PTEN gene plays a broad role in the development of human malignancies. More recent studies also revealed that PTEN plays an important role in brain and nervous system development and function. These studies help explain why some individuals with PHTS also have neurodevelopmental disorders, such as autism spectrum disorder.", "affected": "Cowden syndrome was estimated to affect 1 in 200,000 individuals; this study was conducted just as PTEN was discovered. However, because the disorder is difficult to recognize, researchers believe it is under-diagnosed, making it difficult to determine its true frequency in the general population. Males and females are affected equally with PHTS. PHTS is not more commonly found in persons of a particular racial or ethnic group.", "related-disorders": "Symptoms of the following disorders can be similar to those of PHTS.", "diagnosis": "A diagnosis of PHTS may be suspected based upon a thorough clinical evaluation, a detailed patient history and the presence of characteristic findings. Recently, a variant risk calculator has been developed which can estimate the risk for adults to have a PTEN variant based on their personal history characteristics; this tool is available online at https://www.lerner.ccf.org/gmi/ccscore/. The diagnosis can only be confirmed when a variant of the PTEN gene is identified.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2990", "name_zh": "常染色体隐性遗传多灶性翼状胬肉综合征", "Name": "Autosomal recessive multiple pterygium syndrome", "disease_name": "Pterygium Syndrome, Multiple", "synonyms": "Escobar Syndrome", "disease-overview": "Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.", "symptoms": "Multiple pterygium syndrome is a very rare disorder characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.  The webbing of skin and contractures of the joints that are found in this disorder may restrict movement.", "causes": "Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.", "affected": "Multiple pterygium syndrome is a very rare genetic disorder that affects males and females equally.  There have been approximately fifty cases of this disorder reported in the medical literature.  Multiple pterygium syndrome has been found in Germany, France and England.", "related-disorders": "Symptoms of the following disorders can be similar to those of multiple pterygium syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Popliteal pterygium syndrome is a disorder characterized by cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids.  A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition.  Popliteal pterygium syndrome is at the severe end of the spectrum of disorders caused by abnormalities in the interferon regulatory factor (IRF6) gene.  (For more information about this disorder, choose IRF6-related disorders as your search term in the Rare Disease Database.)", "therapies": "Therapy is supportive and depends on the severity of the webbing and spinal abnormalities. Orthopedic specialists should be consulted once a diagnosis is made because scoliosis develops before age five in most patients. Affected individuals have an increased risk for developing pneumonia due to a small rib cage so respiratory infections should be treated promptly. Patients with multiple pterygium syndrome may benefit from plastic surgery in the areas of webbing. This must be done with extreme caution as there may be major nerves and blood vessels in the area that are too short to allow for full extension of the limbs. Plastic surgery may also be performed to improve fused fingers and correct the cleft palate when present. Physical therapy can be of benefit to help in preventing the joints from becoming fixed."}
{"OrphaCode": "ORPHA:747", "name_zh": "自身免疫性肺泡蛋白沉积症", "Name": "Pulmonary Alveolar Proteinosis", "disease_name": "Pulmonary Alveolar Proteinosis", "synonyms": "PAP", "disease-overview": "The lung is composed of millions of tiny air sacs (alveoli) with very thin walls that allow oxygen in the air we breathe to pass through into the blood. Surfactant is an oily substance comprising phospholipids, lesser amounts of cholesterol and proteins and is made in alveoli. It is present as a thin layer on the surface of alveolar walls and helps them stay open allowing air to come in and out as we breathe. Once used, surfactant is removed (cleared) from alveoli by cells called alveolar macrophages. This helps prevent surfactant from building up too much. Alveolar macrophages require a signaling or ‘messenger’ molecule called granulocyte/macrophage-colony stimulating factor (GM-CSF) to stimulate alveolar macrophages to function properly and maintain a normal surfactant level in alveoli. This process, called surfactant homeostasis, requires GM-CSF to stimulate alveolar macrophages to remove excess surfactant normally.", "symptoms": "In autoimmune PAP, a feeling of breathlessness (dyspnea) is the most common symptom. Most patients develop dyspnea very slowly over time typically noticing it only with activity at first and eventually also at rest. As the disease gets worse from the buildup of surfactant, the fingertips can become bluish in color (cyanosis) due to a low level of oxygen in the blood. Cough is the next most common symptom. This can be a dry cough or a productive cough that produces whitish phlegm (sputum). Coughing up phlegm with streaks of blood (hemoptysis), with or without fever, usually indicates that infection is also present. Rounding of the fingernails and swelling of the fingertips (clubbing) is not a sign of autoimmune PAP. Fatigue, weight loss, chest pain or a general feeling of ill health (malaise) can also occur. Less commonly, secondary infections can occur in or outside the lungs. The disease activity over time (natural history) varies among patients with some experiencing life-threatening respiratory failure while others having a ‘smoldering’ or slowly progressing course and others (about 5-7 percent) may undergo spontaneous improvement. At any given time, about thirty percent of patients may not have any symptoms and the disease is discovered accidentally (incidental).", "causes": "Primary PAP is caused by reduced GM-CSF stimulation of alveolar macrophages, which reduces their ability to remove surfactant from alveoli and results in surfactant build up and breathlessness. Since GM-CSF is also necessary to help alveolar macrophages (and white blood cells) kill and remove bacteria and viruses, loss of GM-CSF stimulation can also result in secondary infections. Primary PAP includes two diseases: autoimmune PAP and hereditary PAP.", "affected": "While the frequency of diseases causing PAP in the general population (prevalence) is not well studied, it is thought that autoimmune PAP accounts for 85 – 90 % of all cases. Hereditary PAP, secondary PAP and congenital PAP each account for roughly 5%. Autoimmune PAP occurs in 6-7 people per million individuals in the general population. It most commonly presents in adults of 30 – 40 years of age but can occur in children as young as three years old. It is more common in men, presumably because more men smoke. Hereditary PAP usually presents in children less than ten years old but can present in adults as old as 35 years. The presentation of secondary PAP is linked to the development of another disease capable of causing PAP. The presentation of congenital PAP is variable, ranging from respiratory failure at the time of birth (associated with harmful variants in SFTPB, ABCA3 or NKX2.1 genes) or slow development of interstitial lung disease in children, adolescents or adults (associated with harmful variants in SFTPC or ABCA3 genes).", "related-disorders": "Symptoms of the following disorders can be similar to those of PAP. Comparisons may be useful for a differential diagnosis.", "diagnosis": "PAP may be suspected based upon the history (breathlessness of very slow onset) and physical examination (occasionally, crackles heard by listening with a stethoscope and rarely, cyanosis). Routine blood tests are usually normal. A diagnosis of PAP is typically supported by results from a chest X-ray or computed tomography (CT scan), which typically reveal extensive white patches within the lungs (ground glass opacity) with superimposed angular lines (reticular densities). This pattern is known as ‘crazy paving’ and is characteristic, but not diagnostic, of PAP.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:275777", "name_zh": "遗传性肺动脉高压", "Name": "Heritable pulmonary arterial hypertension", "disease_name": "Pulmonary Arterial Hypertension", "synonyms": "FPAH", "disease-overview": "", "symptoms": "PAH symptoms are those that are usually due to not having enough oxygen in the blood or inability of the heart to pump enough blood to meet the demands of the body. In most cases, the initial symptom is severe shortness of breath following exertion. Additional symptoms include excessive fatigue, weakness, chest pain, dizzy spells, and fainting episodes.", "causes": "The exact cause of PAH is unknown. Researchers believe that injury to the layer of cells that line the small blood vessels of the lung, perhaps then causing or in concert with changes in the smooth muscle cells in the vessel wall, initiates blood vessel disease. This injury, which occurs for unknown reasons, results in the contraction of smooth muscle and therefore narrows the vessel. Researchers also think that some people who develop PAH have blood vessels that are particularly sensitive to certain internal or external factors and constrict, or narrow, when exposed to these factors.", "affected": "PAH occurs 3-5 times more frequently in females than in males. It tends to affect females between the ages of 30 and 60. New cases are estimated to occur in one to two individuals per million each year in the U.S. The incidence is estimated to be similar in Europe. Approximately 500-1000 new cases of PAH are diagnosed each year in the U.S. There is no ethnic or racial group that is known to have a higher frequency of patients with PAH. An exception to this is an apparent paucity of cases of HPAH among subjects of African ancestry, although this may relate to reporting bias and has not been rigorously studied.", "related-disorders": "Pulmonary hypertension is a general term that means high blood pressure that occurs only in the arteries in the lungs may affect the right side of the heart. The term PAH refers to a specific cause of pulmonary hypertension, but there are other causes of pulmonary hypertension as well. There are four other main causes of pulmonary hypertension:", "diagnosis": "Most advanced stages of cardiac conditions affecting the left heart can cause pulmonary hypertension through back up of fluid into the lung blood vessels. These cardiac diseases include ischemic heart disease, valvular disease, and cardiomyopathy. They can be ruled out as the cause of pulmonary hypertension by careful history, and using electrocardiography, echocardiography, and cardiac catheterization. This kind of pulmonary hypertension is sometimes called pulmonary venous hypertension. Pulmonary venous hypertension can lead to accumulation of blood in the lung which puts the affected individual at a higher risk for developing pleural effusions and pulmonary edema. Like PAH, pulmonary venous hypertension can cause high blood pressure in the pulmonary artery, difficulty breathing, fatigue, and cough.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:441", "name_zh": "单纯性自主神经衰竭", "Name": "Pure autonomic failure", "disease_name": "Pure Autonomic Failure", "synonyms": "Bradbury-Eggleston syndrome", "disease-overview": "The autonomic nervous system controls involuntary actions such as widening or narrowing of our blood vessels. Failure in this system can lead to orthostatic hypotension, which means a sudden drastic drop in blood pressure especially from a lying or sitting down position. The exact cause of pure autonomic failure (PAF) is not known, but is defined as autonomic failure without central nervous system (brain or spinal cord) involvement.", "symptoms": "The main symptom of PAF is orthostatic hypotension. Due to the drop in blood pressure, people can have dizziness or faintness including syncope (loss of consciousness) in severe cases.", "causes": "PAF is caused by abnormal accumulation of a protein called alpha-synuclein in autonomic nerves. This protein helps nerve cells communicate, but its function is not fully understood. Patients with PAF have a loss of nerve cells (neurons) in the intermediolateral column of the spinal cord.", "affected": "The worldwide prevalence of PAF is not known. The age of onset is during adulthood usually in individuals over 60 years. It is more common in males than in females.", "related-disorders": "Symptoms of the following disorders can be similar to those of PAF. Comparisons may be useful for a differential diagnosis.", "diagnosis": "PAF is diagnosed by exclusion of other disorders. Multiple blood pressure measurements that show a fall in blood pressure by more than 20 mm systolic or 10 mm diastolic after at least 1 minute of standing is typical.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98872", "name_zh": "成人单纯红细胞再生障碍", "Name": "Pure Red Cell Aplasia, Acquired", "disease_name": "Pure Red Cell Aplasia, Acquired", "synonyms": "PRCA", "disease-overview": "Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons (idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur secondary to a tumor of the thymus gland (thyoma), viral infections, or certain drugs.", "symptoms": "Acquired Pure Red Cell Aplasia is characterized by a decrease in the number of red blood cells produced in the bone marrow.  Individuals with this disorder are deficient in the number of precursors of red blood cells (erythroblasts).  Levels of the hormone erythropoietin that stimulates the bone marrow to produce red blood cells are usually elevated.", "causes": "Acquired Pure Red Cell Aplasia is thought to be an autoimmune disorder possibly caused either by a tumor of the thymus gland, certain drugs or a viral infection. It is one of a group of bone marrow failure syndromes.", "affected": "Acquired Pure Red Cell Aplasia is a rare disorder affecting males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders are similar to those of Acquired Pure Red Cell Aplasia.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Aplastic Anemia is characterized by failure of the bone marrow to produce red blood cells, white blood cells and platelets.  Certain other anemias are due either to excessive red cell destruction or a limited production of red blood cells.  Aplastic Anemia may occur for unknown reasons, or it may be the result of a toxic reaction to radiation, certain drugs or chemicals.  In rare cases, the disorder may be caused by a tumor in the thymus gland.  (For more information on this disorder, choose Aplastic Anemia as your search term in the Rare Disease Database.)", "therapies": "Acquired Pure Red Cell Aplasia usually goes into remission when certain drugs such as sulfonylureas (used for treating diabetes), gold for treatment of arthritis, penicillin, phenytoin and phenobarbitol used for treating epilepsy, or the anesthetic halothane which can cause this disorder are discontinued. In affected individuals under 30 years of age, the disorder may initially be treated with the immune suppressant drug prednisone and/or antithymocyte globulin. The drugs cyclophosphamide, azathioprine, or 6-mercaptopurine which also suppress the immune system may be used for treating older individuals with Acquired Pure Red Cell Aplasia or those who fail to respond to steroids or antithymocyte globulin. Patients in both age groups may require periodic blood transfusions until the drugs take effect. The drug treatment is slowly decreased when remission of the disorder is acheived."}
{"OrphaCode": "ORPHA:763", "name_zh": "致密性成骨不全症", "Name": "Pycnodysostosis", "disease_name": "Pycnodysostosis", "synonyms": "Pyknodysostosis", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of the potential associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Pycnodysostosis is caused by a change (mutation) in the cathepsin K (CTSK) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Pycnodysostosis is an extremely rare disorder that affects both males and females. About 200 people have been reported in the medical literature with this disorder. It is estimated to affect about 1 in 1.7 million people in the general discussion. Pycnodysostosis may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of pycnodysostosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of pycnodysostosis is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and x-ray studies. X-ray studies can show many of the characteristic bone changes that are associated with this disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:48104", "name_zh": "坏疽性脓皮病", "Name": "Pyoderma Gangrenosum", "disease_name": "Pyoderma Gangrenosum", "synonyms": "PG", "disease-overview": "Pyoderma gangrenosum (PG) is an inflammatory skin disorder that is characterized by small, red bumps (papules or nodules) or pustules that eventually erode to form swollen open sores (ulcerations). The size and depth of the ulcerations vary greatly, and they are often extremely painful. In approximately 50 percent of cases, PG occurs secondary to another disorder such as inflammatory bowel disease. The exact cause of PG is unknown (idiopathic). Some researchers believe it may be an autoimmune disorder.", "symptoms": "Pyoderma gangrenosum often begins as small, quick-spreading reddish- or purple-colored bumps or pustules. These small growths eventually develop into swollen, open sores (ulcerations) with a well-defined blue or violet-colored border. The size and depth of ulcerations vary. Ulcerations may spread, widen and deepen and may become extremely painful. In individual cases, ulcerations may continue to spread, remain unchanged, or heal without treatment.", "causes": "The exact cause of pyoderma gangrenosum is unknown (idiopathic) although it is suspected to be an autoimmune disease. Autoimmune disorders are caused when the body’s natural defenses (e.g., antibodies) against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "Pyoderma gangrenosum affects women slightly more often than men. It occurs most often between the ages of 20 to 50 years. Infants or adolescents account for fewer than 4 percent of cases. One estimate places the incidence of PG at 1 in every 100,000 people in the United States.", "related-disorders": "Symptoms of the following disorders resemble pyoderma gangrenosum clinically or histologically. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Sweet syndrome is a rare skin disorder characterized by fever, inflammation of the joints (arthritis) and the sudden onset of a rash. The rash consists of bluish-red, tender papules that usually occur on the arms, legs, face or neck, most often on one side of the body (asymmetric). In many cases, Sweet syndrome occurs by itself for no known reason (idiopathic). In some cases, the disorder is associated with an underlying malignancy, usually a hematologic malignancy such as certain types of leukemia. The exact cause of Sweet syndrome is unknown. (For more information on this disorder, choose Sweet as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3006", "name_zh": "维生素B6依赖性癫痫", "Name": "Pyridoxine-dependent epilepsy", "disease_name": "Pyridoxine-Dependent Epilepsy", "synonyms": "antiquitin deficiency", "disease-overview": "Pyridoxine-dependent epilepsy (PDE) is a rare cause of stubborn, difficult to control, (intractable) seizures appearing in newborns, infants and occasionally older children. More than 200 patients have now been reported in the medical literature. PDE presents in a variety of forms with variable signs and symptoms (phenotypically heterogeneous). The one clinical feature characteristic of all patients with PDE is intractable seizures that are not controlled with anticonvulsant drugs but which do respond both clinically and usually on EEG (electroencephalographically) to large daily supplements of pyridoxine. These patients are not pyridoxine-deficient. They are metabolically dependent on the vitamin. In other words, even though they get the recommended daily allowance (RDA) of pyridoxine from their normal diet, they require substantially more of the vitamin than an otherwise normal individual. Patients with PDE require pyridoxine therapy for life.", "symptoms": "Patients with the classic neonatal PDE experience seizures soon after birth. In retrospect, many mothers describe rhythmic movements in the uterus (womb) that may start in the late second trimester and which likely represent fetal seizures. Affected neonates frequently have periods of irritability, unusual eye and facial movements, fluctuating tone, and poor feeding (encephalopathy) that precede the onset of clinical seizures. Abnormal Apgar scores (which measure heart rate, respiration, muscle tone, reflex irritability and color at birth plus one minute and at birth plus five minutes) and cord blood gases may also be seen. Under such conditions, it is not uncommon for these infants to be diagnosed initially as laboring under insufficient oxygen with consequent damage to the nervous system. Similar periods of encephalopathy may be seen in older infants with PDE, particularly prior to the onset of a recurrence of clinical seizures. Pyridoxine-treated patients who have been lax in taking their medicine (non-compliant) or those patients whose daily vitamin requirement may have increased due to growth or an intercurrent infection (particularly fever or gastroenteritis) may also experience recurrent seizures.", "causes": "Mutations in the antiquitin gene (ALDH7A1) were identified in 2006 as the cause of PDE. Antiquitin is an enzyme that plays a role in the metabolism of lysine, an amino acid. Abnormal function of antiquitin secondarily results in elevations of the chemical alpha-aminoadipic semialdehyde (α-AASA) which leads to reduced activity of several enzymes in the brain that regulate the transmission of signals between neurons as well as brain development.", "affected": "PDE is considered to be a rare disease, and only a few epidemiologic studies have been published. For example, a study from the United Kingdom and the Republic of Ireland reported a point prevalence of 1:687,000 for definite and probable cases of PDE, while a survey conducted in the Netherlands reported an estimated birth incidence of 1:396,000. PDE is quite likely under-diagnosed and a higher birth incidence is suspected. This notion is supported by a study from a German center where pyridoxine administration is part of a standard treatment protocol for neonatal seizures and a birth incidence of probable cases of 1:20,000 was reported. Recently, an international genetics study of 185 PDE subjects together with the analysis of population-based genomic databases concluded that the birth incidence of PDE is approximately 1:64,000 live births.", "related-disorders": "While PDE due to antiquitin deficiency should be considered when evaluating possible causes of intractable seizures in young patients, other more common causes must be ruled out, including a variety of brain malformation syndromes, serious acquired disorders of the central nervous system (such as hemorrhagic conditions and infections), and other inborn errors of metabolism. There are two additional neonatal metabolic disorders that have similarities to form of PDE that is due to mutations in ALDH7A1. One of these is a rare form of pyridoxine-dependent neonatal seizures due to abnormalities in the PLPBP gene which encodes the pyridoxal phosphate homeostasis protein. Infants with this disorder have a similar clinical presentation but do not have an abnormality in lysine metabolism with elevations in α-AASA. In this disorder, seizures do respond to pyridoxine. Another closely related neonatal metabolic epilepsy is pyridoxamine-5′-phosphate oxidase deficiency (PNPO deficiency). Babies with this genetic disorder also have intractable seizures, but the seizures in these patients respond to pyridoxal-5’-phosphate (P5P, the biologically active form of pyridoxine) but in most instances do not respond to pyridoxine. Other genetic pyridoxine-dependency states have been described (e.g. pyridoxine-dependent anemia and pyridoxine-dependent forms of homocystinuria, xanthurenic aciduria and cystathioninuria), but these conditions are not genetically related to PDE, and intractable seizures are not a feature of these other disorders.", "diagnosis": "Until the third year of life, PDE must be considered as a possible cause of intractable seizures in any patient. In particular, this diagnosis needs to be investigated in any newborn (neonate) with encephalopathy and seizures when there is no convincing evidence of oxygen deprivation, brain hemorrhage, other identifiable underlying metabolic disturbance or brain malformation. PDE must also be suspected in all young patients with intractable seizures with a history of a similar disorder in a sibling. Prior to the discovery of the abnormal gene and biochemical markers, the diagnosis could only be made on a clinical basis by observing over the course of days to weeks a patient’s response to pyridoxine therapy. Importantly, there are no definitive EEG or imaging features that will confirm a diagnosis of PDE. A clinical diagnosis may be made on an acute basis in patients experiencing prolonged or very frequent seizures by administering 100 mg of pyridoxine intravenously while monitoring the EEG, oxygen saturation and vital signs. In most patients with PDE, clinical seizures will cease and a corresponding change in the EEG will be noted. If a response is not demonstrated, the dose should be repeated up to a maximum of 500 mg. In some patients with PDE, significant neurologic and cardiorespiratory adverse effects followed this trial; therefore, close systemic monitoring is essential. For patients who are experiencing shorter seizures which occur at least daily, the diagnosis can be made by administering 30 mg/kg/day of pyridoxine orally. Patients with PDE who are treated in this fashion should stop having clinical seizures within a week. In either case, to confirm the diagnosis of PDE, a patient whose seizures stop after the use of pyridoxine should have blood or urine tested for α-AASA, or a test of the ALDH7A1 gene. With the development of multi-gene epilepsy panels and whole exome sequencing, PDE may be an unanticipated diagnosis in patients with intractable epilepsy and its discovery should lead to an immediate change in management.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3008", "name_zh": "丙酮酸羧化酶缺乏", "Name": "Pyruvate carboxylase deficiency", "disease_name": "Pyruvate Carboxylase Deficiency", "synonyms": "ataxia with lactic acidosis, type II", "disease-overview": "Pyruvate carboxylase deficiency (PC deficiency) is a rare genetic disorder present at or shortly after birth and characterized by failure to thrive, developmental delay, recurrent seizures and failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function. In its most severe form, PC deficiency leads to progressive damage to the tissue and organs, especially in the nervous system. PC deficiency is inherited as an autosomal recessive genetic condition.", "symptoms": "Three types of PC deficiency have been described and are called type A, type B and type C.", "causes": "PC deficiency is caused by changes (variants) in the pyruvate carboxylase (PC) gene resulting in a missing or decreased amount of pyruvate carboxylase enzyme. This enzyme functions in the energy producing centers of cells (mitochondria) to make oxaloacetate. Brain energy is essential for the synthesis of the protective sheath around nerve cells (myelin) and the production of neurotransmitters in the brain.", "affected": "PC deficiency is a very rare disorder that affects males and females in equal numbers. The frequency of this condition has been estimated to be 1 in 250,000 births. Type A occurs more often in native tribes of North America and type B occurs more often in Europe, especially in France, but also in Germany and England.", "related-disorders": "Symptoms of the following disorders can be like those of pyruvate carboxylase deficiency. Comparison may be useful for a differential diagnosis.", "diagnosis": "PC deficiency is suspected in individuals with failure to thrive, developmental delay, recurrent seizures and metabolic acidosis.", "therapies": "Treatment of PC deficiency is aimed at providing alternative sources of energy for the body and alternative means of metabolizing pyruvate (anaplerotic therapy). A diet that is low in fat and high in carbohydrates and protein is recommended. Intravenous fluids, hydration and correction of the metabolic acidosis can aid in individual flare-ups for disease management. Thiamine, lipoic acid, dichloroacetate, aspartic acid and citrate can sometimes help to reduce the levels of pyruvate and lactate. Biotin can sometimes improve the function of the pyruvate carboxylase enzyme. Triheptanoin has reportedly benefited three PC type C patients by presumably providing a source of acetyl-CoA and propionyl-CoA. Triheptanoin also may show promise in reversing neurological affects, but further studies are needed to address this suggestion. One PC type A patient also benefited from triheptanoin with reversal of hepatic failure and biochemical abnormalites, but life expectancy was not prolonged in this single reported patient."}
{"OrphaCode": "ORPHA:765", "name_zh": "丙酮酸脱氢酶缺乏症", "Name": "Pyruvate dehydrogenase deficiency", "disease_name": "Pyruvate Dehydrogenase Complex Deficiency", "synonyms": "intermittent ataxia with pyruvate dehydrogenase deficiency", "disease-overview": "Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). The age of onset and severity of disease symptoms vary widely. Individuals with PDCD symptom onset in the prenatal period or in infancy usually die in early childhood. Those who develop PDCD later in childhood may have neurological symptoms but usually survive into adulthood. Most individuals with PDCD have an abnormality in the PDHA1 gene located on the X chromosome. A smaller percentage of affected individuals have forms of the disorder that follow autosomal recessive inheritance.", "symptoms": "Individuals with PDCD are affected by a broad spectrum of symptoms ranging from fatal lactic acidosis in infancy to chronic neurological dysfunction. Not all individuals with PDCD are affected at birth, but almost all show signs of the disease during their first year of life. The most common presenting features of PDCD, including poor feeding, lethargy and rapid breathing (tachypnea), are due to increased blood levels of lactic acid. Other early symptoms include neurological function impairments, such as motor delays, poor muscle tone (hypotonia) and seizures, as well as brain structural abnormalities on neuroimaging. Many individuals with PDCD also have developmental delays, incoordination (ataxia) and respiratory infections/distress. When symptoms begin during the prenatal period or soon after birth, neurological development can be severely impacted leading to major deficits. However, individuals with symptom onset well after birth may have normal neurologic development with intermittent displays of symptoms such as ataxia.", "causes": "PDCD is caused by abnormalities in the genes that encode the components of the pyruvate dehydrogenase complex. The pyruvate dehydrogenase complex contains three enzymes, E1, E2, and E3, and multiple coenzymes. The E1 enzyme is comprised of an alpha and a beta subunit. PDCD is most commonly caused by abnormalities in the gene that encodes the E1 alpha subunit, E1-alpha subunit pyruvate dehydrogenase gene or PDHA1. There are many different abnormalities in the PDHA1 gene, also called PDHA1 variants, which are known to cause PDCD. Most PDHA1 variants are sporadic meaning they are new changes to the PDHA1 gene and were not inherited. However, because this gene is located on the X chromosome, when it is inherited, it follows an X-linked recessive pattern of inheritance.", "affected": "Several hundred children with PDCD have been reported, but the overall frequency is unknown. More males than females are affected by X-linked PDCD. Female carriers of X-linked PDCD may be less severely affected and more difficult to diagnose.", "related-disorders": "Symptoms of the following disorders can be similar to those of pyruvate carboxylase complex deficiency. Comparison may be useful for a differential diagnosis.", "diagnosis": "Biochemical abnormalities vary from severe acidosis (abnormally high blood levels of lactic acid) shortly after birth to mildly elevated levels, oftentimes following a meal high in carbohydrates. In some patients, elevation of blood lactate levels is seen only during the acute episodes. Excretion of abnormally large amounts of the amino acid alanine (alaninuria) may occur only during acute episodes. Imaging studies such as magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) may reveal structural brain abnormalities associated with severe disease. A definitive clinical diagnosis can be made by measuring abnormal PDC enzyme levels or function in leukocytes, fibroblasts or from a tissue biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:766", "name_zh": "红细胞丙酮酸激酶缺乏所致溶血性贫血", "Name": "Pyruvate Kinase Deficiency", "disease_name": "Pyruvate Kinase Deficiency", "synonyms": "PKD", "disease-overview": "", "symptoms": "Symptoms from pyruvate kinase deficiency can be highly variable. How it affects one person can be significantly different from how it affects another person. In some people, the disorder can be life-threatening at birth. Other individuals may have mild or no symptoms of the disorder and go undiagnosed into adulthood. Others may develop symptoms during childhood or as adults. The main finding, hemolytic anemia, is a chronic, lifelong condition.", "causes": "Pyruvate kinase deficiency is caused by an alteration in the PKLR gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.", "affected": "Pyruvate kinase deficiency is a rare disorder that affects both males and females. The frequency of the disorder is unknown, although one estimate suggests that approximately 1 in 20,000 Caucasian people develop the disorder. In clinical practice, the frequency is closer to 1 in 1,000,000 people. PKD has been identified most in the US and Europe. However, rare disorders like PKD often go misdiagnosed or undiagnosed making it difficult to determine their true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of pyruvate kinase deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of pyruvate kinase deficiency is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation, an initial laboratory evaluation, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:781", "name_zh": "Q热", "Name": "Q fever", "disease_name": "Q fever", "synonyms": "Q fever pneumonia, atypical pneumonia", "disease-overview": "", "symptoms": "The symptoms of Q fever can vary dramatically from one person to another. Infection can result in no apparent symptoms (asymptomatic); an acute form of disease characterized by a flu-like illness that either goes away on its own (self-limited) or causes more serious symptoms; or a chronic form that can be associated with serious complications. Researchers believe that a variety of factors may influence the severity of Q fever including age, gender and a person’s general health, including pre-existing medical conditions (e.g., heart disease).", "causes": "Q fever is caused by inhalation or ingestion of the bacterium Coxiella burnetii. People are most often exposed to the bacterium from the milk, urine and feces of infected animals (for example, by inhaling contaminated air in a barnyard). When these waste substances dry in the air, the bacteria are able to mix with the barnyard dust that floats around. Consequently, this infection is primarily transferred to humans through their lungs when they breathe the contaminated dust.  Also, when an infected animal gives birth, the bacteria may be present in high numbers in the amniotic fluid and placenta. Q fever bacterium primarily infects farm animals such as cattle sheep and goats. However, it has been reported in a wide variety of animals including domesticated animals such as dogs, cats and rabbits. The C. burnetii bacterium is highly infectious. The bacterium can survive in the environment for lengthy periods of time because it is resistant to environmental conditions such heat and pressure. It is also resistant to many common disinfectants.", "affected": "Q fever occurs worldwide and can affect individuals of every racial and ethnic background. The incidence of Q fever is unknown because in many countries it is not a reportable disease.  Researchers believe that the infection is underreported. From 2000-2012, the incidence rate for this disease in the United States was 0.38 cases per million people per year. There have been higher incidence rates in certain countries such as the Netherlands, where there were reports of thousands of human cases.", "related-disorders": "Symptoms of the following disorders can be similar to those of Q fever. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The signs and symptoms of Q fever are nonspecific and can be associated with a wide variety of diseases. A diagnosis of Q fever usually requires serological examination, which measures and characterizes antibodies. Q fever has two antibody-producing (antigenic) phases called phase I and phase II. These phases can help confirm a diagnosis and can help distinguish acute Q fever infection from chronic Q fever infection. Infected individuals develop specific antibodies against Q fever including immunoglobulin G (IgG), immunoglobulin A (IgA) and immunoglobulin M (IgM). Measuring the levels of these classes of antibodies can help confirm a diagnosis of Q fever. During the acute phase of Q fever, IgG and IgM antibodies may be detected. In chronic Q fever, IgG or IgA levels may be detected.", "therapies": "Antibiotic therapy is used to treat individuals with Q fever. Some mild cases of Q fever may improve without treatment, although antibiotic therapy can usually help reduce the duration of the infection. Physicians recommend that all individuals in whom Q fever is detected receive antibiotic therapy, even those with no recognizable symptoms."}
{"OrphaCode": "ORPHA:770", "name_zh": "狂犬病", "Name": "Rabies", "disease_name": "Rabies", "synonyms": "Hydrophobia", "disease-overview": "Rabies is an infectious disease that can affect all species of warmblooded animals, including man. This disorder is transmitted by the saliva of an infected animal and is caused by a virus (Neurotropic lyssavirus) that affects the salivary glands and the central nervous system. The symptoms may lead to serious complications if the virus is not treated immediately.", "symptoms": "The symptoms of rabies usually develop within 20-60 days after a bite or scratch from an animal infected with the rabies virus.  The incubation period is the time between the exposure and the appearance of the first neurologic symptoms.  The incubation period is usually shorter when the sight of exposure is closer to the brain.  The initial symptoms may be a general feeling of discomfort or uneasiness, nervousness, anxiety, insomnia, depression, loss of appetite, fever, chills, cough, sore throat, headache, nausea, vomiting, and pain at the site of exposure.  Serious neurological symptoms usually present themselves two to ten days after the initial symptoms.  There are two types of syndromes that may develop during this neurological period:  furious and/or paralytic (sluggishness and early paralysis).", "causes": "Rabies is caused by a lyssavirus (a form of virus that causes encephalitis) that affects the saliva and nervous system.  Most cases of rabies in humans are caused by a bite or scratch from an infected animal.  It is possible, but rare, for people to get rabies if infectious material from a rabid animal, such as saliva, gets directly into their eyes, nose, mouth, or a wound.", "affected": "Rabies in humans has been almost completely eliminated in most developed countries.  The vaccinations of domesticated animals and elimination of stray dogs has helped control this problem.  In the 1980’s the U.S. Centers for Disease Control had one case per year reported.  In the United States rabies is found primarily among wild animals such as skunks, foxes, bats, and raccoons.  There were 49 cases of human rabies reported in the U.S. between 1960 and 1986.  Only 7 of the 49 cases were acquired by exposure to rabid domesticated animals.  The remainder were from wild animals.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rabies. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Cerebral Malaria is a serious complication of falciparum malaria.  This disorder is usually seen in infants, pregnant women, and travelers who are not immune to parasites of certain regions.  It is caused by a communicable parasite and is spread through the bite of the Anopheles mosquito.  The symptoms may be fever of up to 104 F, severe headache, drowsiness, confusion, or delirium.  (For more information on this disorder choose Malaria as your search term in the Rare Disease Database.)", "therapies": "Medical assistance should be obtained as soon as possible after an exposure or possible exposure to rabies. The most effective treatment for rabies is immediate treatment of the wound followed by immunization with the rabies vaccine. The wound should be cleansed thoroughly with soap and water and medical attention sought immediately. If the wound has broken the skin, a tetanus shot should be given. If the patient has been bitten by a wild animal that has escaped, or a domestic animal that shows signs of rabies, a series of vaccinations to prevent rabies is prescribed before the onset of symptoms. Once the disease presents itself in the patient there is no effective treatment to stop the progression."}
{"OrphaCode": "ORPHA:769", "name_zh": "Rabson-Mendenhall综合征", "Name": "Rabson-Mendenhall Syndrome", "disease_name": "Rabson-Mendenhall Syndrome", "synonyms": "Mendenhall syndrome", "disease-overview": "Rabson-Mendenhall syndrome is an extremely rare genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose (a simple sugar) into cells for energy production or into the liver and fat cells for storage.", "symptoms": "The symptoms of Rabson-Mendenhall syndrome vary greatly from person to person. Some individuals may be affected more severely than others. The disorder can potentially cause life-threatening complications during childhood or adolescence. Affected individuals may not have all the symptoms listed below. Affected individuals or parents of affected children should talk to their physicians and medical team about their specific case and associated symptoms.", "causes": "Rabson-Mendenhall syndrome may be caused by changes (disease-causing variants) of the insulin receptor gene. Insulin receptors are molecular structures on the surfaces of certain target cells that bind with insulin, triggering cellular response. Variants of the insulin receptor gene result in a reduced number or an altered structure of insulin receptors. This results in reduced binding with insulin or abnormalities of the post-receptor pathway, with an impaired response to insulin within targeted cells.", "affected": "Rabson-Mendenhall syndrome affects males and females in equal numbers. Fewer than 50 patients have been reported in the medical literature. The exact incidence of Rabson-Mendenhall syndrome is unknown. Because rare disorders like Rabson-Mendenhall syndrome often go unrecognized, these disorders are under-diagnosed or misdiagnosed, making it difficult to determine the true frequency of Rabson-Mendenhall syndrome in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rabson-Mendenhall syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Two other disorders, leprechaunism and insulin resistance type A, are also caused by variants in the insulin receptor gene. Some researchers think that these three disorders represent a continuum or spectrum of disease. Rabson-Mendenhall would represent an intermediate form of the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:454831", "name_zh": "急性放射病综合征", "Name": "Radiation Sickness", "disease_name": "Radiation Sickness", "synonyms": "Radiation Disease", "disease-overview": "", "symptoms": "Acute radiation sickness is characterized by nausea, vomiting, diarrhea, anorexia, headache, malaise and rapid heartbeat (tachycardia). With mild ARS, the discomfort subsides within a few hours or days. However, there are three different types of severe ARS, which can develop as a result of high doses (e.g., an atomic explosion) to small doses (e.g., repeated x-rays over a period of days or weeks):", "causes": "Harmful sources of ionizing radiation are limited primarily to high-energy x-rays used for diagnosis and therapy, and to radium and related radioactive materials. Present sources of potential radiation include nuclear reactors, cyclotrons, linear accelerators, alternating gradient synchrotons, and sealed cobalt and cesium sources for cancer therapy. Numerous artificial radioactive materials have been produced for use in medicine and industry by neutron activation in reactors.", "affected": "Radiation sickness can affect males and females in equal numbers.", "related-disorders": "", "diagnosis": "Diagnosis is typically made based on a history of significant radiation exposure. The time between exposure and vomiting also can give good estimates of exposure levels in a patient.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3020", "name_zh": "拉姆齐·亨特综合征", "Name": "Ramsay Hunt syndrome", "disease_name": "Ramsay Hunt Syndrome", "synonyms": "facial nerve palsy due to herpes zoster infection", "disease-overview": "Ramsay Hunt syndrome is a rare neurological disorder that typically affects adults over 60 years of age. The disorder is characterized by facial weakness or paralysis of the facial nerve (facial palsy) and a rash affecting the ear or mouth. Symptoms are usually on one side of the face (unilateral). Ringing in the ears (tinnitus) and hearing loss may also be present. Ramsay Hunt syndrome is caused by the varicella zoster virus (VZV), the same virus that causes chickenpox in children and shingles (herpes zoster) in adults. In Ramsay Hunt syndrome, previously inactive (dormant) varicella-zoster virus is reactivated and spreads to affect the facial nerve.", "symptoms": "The symptoms of Ramsay Hunt syndrome vary from person to person. Affected individuals usually experience paralysis of the facial nerve and a rash affecting the ear. These two symptoms do not always occur at the same time. In most people, only one side of the face is affected.", "causes": "Ramsay Hunt syndrome is caused by the varicella-zoster virus, which is the same virus that causes chickenpox and shingles. The virus can remain dormant for decades in a person who has had chickenpox as a child. Reactivation of the varicella-zoster virus results in a shingles outbreak and, in cases where the varicella-zoster virus spreads to the facial nerves, develops into Ramsay Hunt syndrome. The reason why the virus reactivates and affects the facial nerve in Ramsay Hunt syndrome is unknown.", "affected": "According to one estimate, 5 out of every 100,000 people develop Ramsay Hunt syndrome each year in the United States. Ramsay Hunt syndrome affects males and females in equal numbers. Anyone who has previously had chickenpox can potentially develop Ramsay Hunt syndrome. However, most patients are adults over the age of 60. Ramsay Hunt syndrome is extremely rare in children.", "related-disorders": "Shingles, which results in a painful rash, is caused by the reactivation of the varicella zoster virus which lays dormant in people who have had a prior infection with chickenpox. It can affect nerves all over the body, not specific to just the facial region.", "diagnosis": "Diagnosis of Ramsay Hunt syndrome can be difficult because the symptoms of the disorder (earache, facial paralysis and the distinctive rash) do not always develop at the same time.", "therapies": NaN}
{"OrphaCode": "ORPHA:293987", "name_zh": "快速发病的儿童肥胖-下丘脑功能障碍-低通气-自主神经失调综合征", "Name": "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation", "disease_name": "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation", "synonyms": "late onset central hypoventilation syndrome with hypothalamic dysfunction", "disease-overview": "Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is an ultra-rare disorder of respiratory control and autonomic nervous system (ANS) regulation, with endocrine system abnormalities. Respiratory control is a function of the ANS that is responsible for changing breathing in response to varied activities of daily living (ex. exercise, sleep, eating) and in response to changes in oxygen and carbon dioxide. The ANS is the portion of the nervous system that controls or regulates many automatic involuntary body functions including breathing, heart rate, blood pressure, temperature regulation, bowel and bladder control, and more. The endocrine system is regulated by the hypothalamus, and through hormones it controls growth, energy and water balance, sexual maturation and fertility as well as response to stress.", "symptoms": "Children with ROHHAD are seemingly healthy before the rapid-onset weight gain, making the diagnosis even more challenging to parents and health care personnel. Between 1.5 and 7 years of age, these children begin to manifest abnormalities that will evolve into the features of ROHHAD. Most commonly, the first sign is dramatic (often 20-30 pounds) and rapid (over 3 to 12 months) weight gain without associated abnormal increase in hunger (hyperphagia). This rapid-onset obesity is considered a sign of hypothalamic dysfunction (abnormality of the endocrine system). Other hypothalamic abnormalities may not be detected at the time of the rapid weight gain but will be identified any time from months to years following the rapid-onset obesity. These other hypothalamic/endocrine abnormalities may include inability to maintain normal water balance in the body (leading to abnormally high or low sodium levels), high prolactin levels, low thyroid hormone, growth hormone insufficiency, early or late puberty, and low cortisol among other abnormalities. Children with ROHHAD can have variable timing and number of these symptoms of hypothalamic dysfunction, but all will have some abnormalities, especially increased prolactin. After the rapid weight gain, children with ROHHAD will begin to show breathing abnormalities despite normal lungs. Some children may present with obstructive sleep apnea which means that airflow is intermittently blocked during sleep; they may have snoring and they may have pauses in breathing related to the air flow blockage (obstructive apnea). Because obstructive sleep apnea is not unusual in young obese children, health care personnel may not be alarmed at this stage, and a connection to the ROHHAD phenotype might be delayed. All children with ROHHAD, whether they had preceding OSA or not, develop alveolar hypoventilation with very shallow breathing during sleep (nap and night). In more severely affected patients with ROHHAD, the hypoventilation is apparent awake and asleep. As a result of altered control of breathing, low oxygen saturation and elevated carbon dioxide occur during wakefulness as well as sleep, without any shortness of breath (awake) or awakening (from sleep). This hypoventilation/control of breathing deficit is the most life-threatening feature of ROHHAD, yet it is often unnoticed until after a dramatic event such as a cardiorespiratory arrest. Therefore, all children with ROHHAD will require help with their breathing, relying on a ventilator to prevent low oxygen or increased carbon dioxide. Approximately half of the children with ROHHAD require ventilator support during sleep only and the other half require ventilator support awake and asleep (24-hours per day), though the ventilatory needs of a child with ROHHAD may vary with advancing age (and unfolding of the clinical features of ROHHAD). This ventilator support can be provided with bi-level positive airway pressure through a mask that fits tightly at the nose or with nasal pillows or a full-face mask or with a mechanical ventilator through a surgically made hole in the airway called a tracheostomy, or potentially with diaphragm pacing (still requiring a tracheostomy).", "causes": "The diagnosis of ROHHAD is currently based on clinical criteria and though investigation of genetic changes (pathogenic variants or mutations) is underway, no specific cause for ROHHAD has been found to date.", "affected": "ROHHAD is a very rare disorder with approximately 200 cases reported in the literature and clinically to date. Though first described under a different name in 1965, it was not re-named until 2007 nor shown to be distinct from CCHS (documented absence of CCHS-related PHOX2B mutations). Therefore, as ROHHAD is a relatively new disorder without many cases identified thus far, it is not yet clear if any certain population is at greater risk for developing ROHHAD. Because of the explosion of children with exogenous obesity worldwide, a very high level of vigilance in consideration of ROHHAD is essential.", "related-disorders": "Congenital central hypoventilation syndrome (CCHS) is a disorder of the ANS caused by a harmful variant in the PHOX2B gene that affects the embryologic development of the ANS. Similar to ROHHAD, the automatic control of breathing, heartbeat, digestion, and other features of ANSD are among the affected features. In CCHS, the hallmark is hypoventilation while sleeping and, in severe cases, hypoventilation while awake and asleep – despite anatomically normal heart, lung, and airways. Both CCHS and ROHHAD fall within the rubric of respiratory and autonomic disorders of infancy, childhood, and adulthood (RADICA). CCHS is a rare disorder with approximately 3,000 cases described or identified worldwide. Numbers of reported CCHS cases continue to grow, likely because of increased awareness and introduction of a clinically available genetic test (in 2003) – allowing for early diagnosis and improved treatment. CCHS is often diagnosed in the newborn period because of the hypoventilation and related cyanosis  upon falling asleep and/or associated Hirschsprung disease, but milder forms of CCHS may go undiagnosed through infancy, childhood, and even adulthood. A simple blood test can be done to look for a PHOX2B gene variant. Different PHOX2B gene variants can occur, and this will determine how severely an individual with CCHS is affected. Stepwise testing for PHOX2B variants should be done with close involvement by a physician and genetic counselor. (For more information about this disease, choose CCHS as your search term in the Rare Disease Database.)", "diagnosis": "The criteria for diagnosis of ROHHAD include the following: 1) rapid-onset obesity and alveolar hypoventilation during sleep starting after the age of 1.5 years, 2) evidence of hypothalamic dysfunction, as defined by at least 1 of the following findings: rapid-onset obesity, hyperprolactinemia, central hypothyroidism, disordered water balance, growth hormone deficiency, corticotrophin deficiency, or altered onset of puberty (delayed or precocious), and 3) absence of a CCHS-related PHOX2B variant (to genetically distinguish ROHHAD from CCHS). At present there is no genetic testing available to diagnose ROHHAD, so the diagnosis is based on the clinical presentation and clinical course which should include cooperative consultation by pediatric experts in the fields of pulmonology, endocrinology, autonomic medicine, oncology, psychology, nutrition, otolaryngology, surgery, cardiology and sleep medicine.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1929", "name_zh": "Rasmussen亚急性脑炎", "Name": "Rasmussen Encephalitis", "disease_name": "Rasmussen Encephalitis", "synonyms": "chronic encephalitis and epilepsy", "disease-overview": "Rasmussen encephalitis, sometimes referred to as Rasmussen syndrome, is a rare disorder of the central nervous system characterized by chronic progressive inflammation (encephalitis) of one cerebral hemisphere. As a result, the patient usually experiences frequent episodes of uncontrolled electrical disturbances in the brain that cause epileptic seizures (epilepsy) and progressive cerebral destruction. With time, further symptoms may include progressive weakness of one side of the body (hemiparesis), language problems (if on the left side of the brain) and intellectual disabilities. The exact cause of this disorder is not known. The two leading ideas are that the brain inflammation might be a reaction of a foreign antigen (infection) or an autoimmune disease limited to one side of the brain resulting in brain damage. It occurs mostly, but not always, in children between the ages of two and ten years, and in many patients the course of the disease is most severe during the first 8 to 12 months. After the peak inflammatory response is reached, the progression of this disorder appears to slow or stop, and the patient is left with permanent neurological deficits.", "symptoms": "Typically, affected individuals develop focal seizures that may progress to near continuous seizures termed epilepsia partialis continua (EPC). EPC is characterized by a rapid, rhythmic succession of contractions and relaxations of a muscle or muscle group (myoclonus), particularly of the arms, legs, and face, that may occur singularly or in a repetitive, continuous series. In Rasmussen this occurs consistently on one side of the body opposite the side of the inflammation.", "causes": "The exact cause of Rasmussen encephalitis is not known. Most researchers now suspect that Rasmussen encephalitis is an autoimmune disorder following histopathologic review of the tissue involved under the microscope. In autoimmune disorders, the body’s natural defenses (antibodies and T-cells) fight its own tissue, mistaking it for foreign organisms for no apparent reason.", "affected": "Rasmussen encephalitis mostly affects children ten years of age and younger. It is unusual to affect children under two years of age. Adolescents and young adults in much smaller proportions are also affected. There may be a history of some prior mild cold or flu prior to the onset of the seizures. The annual number of new-onset Rasmussen has been estimated as 2.4/10,000,000 persons less than or equal to 18 years of age.", "related-disorders": "Symptoms of the following disorders may be similar to those of Rasmussen encephalitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Focal cortical dysplasia in the motor region refers to lesions near the motor-sensory cortex that can provoke EPC which is similar to RE.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:29207", "name_zh": "反应性关节炎", "Name": "Reactive arthritis", "disease_name": "Reactive Arthritis", "synonyms": "Fiessinger-Leroy disease", "disease-overview": "Reactive arthritis is a general term for a form of joint inflammation (arthritis) that develops as a reaction to an infection in another area of the body (i.e., outside of the joints). Joint inflammation is characterized by redness, swelling, pain and warmth in and around the affected joint. In reactive arthritis, the large joints of the lower limbs and the sacroiliac joints are most often affected. Two other common symptoms of reactive arthritis are inflammation of the urinary tract and inflammation of the membrane (conjunctiva) that lines the eyelids (conjunctivitis). These three characteristic symptoms may occur separately, all at once or not at all. Additional symptoms such as fever, weight loss, lower back pain and heel pain may also occur. Reactive arthritis usually develops following a bout with certain bacterial infections including Chlamydia, Salmonella, Shigella, Yersinia, and Campylobacter.", "symptoms": "Some individuals with reactive arthritis may only develop mild arthritis without eye or urinary tract involvement. Other individuals may develop a severe case of reactive arthritis that can dramatically limit daily activity. Symptoms usually last anywhere from 3 to 12 months and may come and go. In approximately 30-50 percent of patients, symptoms may return later or become a chronic (greater than 6 month) long-term problem. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The specific symptoms and their severity can vary greatly from one person to another.", "causes": "Reactive arthritis develops because of an infection that occurs in another part of the body. Even mild infections, which may go unnoticed, can cause reactive arthritis. This may be particularly true with chlamydial infections, which appear to be a rather frequent cause of reactive arthritis. The lack of a symptomatic, preceding infection in some cases obscures the diagnosis. The five bacterial infections most commonly associated with reactive arthritis are Chlamydia, Salmonella, Shigella, Yersinia, and Campylobacter. These bacteria usually cause gastrointestinal or genitourinary infections. Chlamydia is the most common cause of reactive arthritis in the United States and is usually acquired through sexual contact. Salmonella, Shigella, Yersinia, and Campylobacter may cause a gastrointestinal infection that can trigger reactive arthritis. Salmonella, Shigella, Yersinia, and Campylobacter are often acquired after eating contaminated food, handling improperly prepared food or coming into contact with the feces of a contaminated person. Less often, several other bacteria have been implicated as causative agents in reactive arthritis. However, some researchers reserve the term reactive arthritis only for those cases caused by the five abovementioned bacteria.", "affected": "Reactive arthritis most often affects white men between the ages of 20 and 40. However, it has also been reported in children and the elderly. Women usually develop milder symptoms and may often go undiagnosed. Men are estimated to be approximately nine times more likely to develop reactive arthritis following a sexually-acquired infection. The risk of developing reactive arthritis following a gastrointestinal infection is the same between men and women. The exact incidence of reactive arthritis is unknown and estimates vary. Some researchers believe that many cases often go misdiagnosed or undiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of reactive arthritis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "There is no specific, conclusive diagnostic test for reactive arthritis. Several groups have published diagnostic guidelines for reactive arthritis. However, these guidelines are often in disagreement as to what specifically is required for a diagnosis. Specific, consistent diagnostic guidelines have yet to be established for reactive arthritis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93307", "name_zh": "多发性骨骺发育不良4型", "Name": "Multiple epiphyseal dysplasia type 4", "disease_name": "Recessive Multiple Epiphyseal Dysplasia", "synonyms": "EDM4", "disease-overview": "", "symptoms": "The specific symptoms and physical findings may vary from one person to another. Affected individuals may develop relatively mild symptoms and, in some cases, individuals reach adulthood without ever receiving a diagnosis of recessive multiple epiphyseal dysplasia. However, most individuals are diagnosed with a skeletal dysplasia at some point during childhood. Other individuals may have more severe complications.", "causes": "Recessive multiple epiphyseal dysplasia is caused by a mutation in the SLC26A2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Recessive multiple epiphyseal dysplasia affects males and females in equal numbers. The exact incidence or prevalence of the disorder is unknown, but multiple epiphyseal dysplasia, collectively, has been estimated to occur in approximately 1 in 20,000 people in the general population. rMED is estimated to account for approximately 25% of all cases of multiple epiphyseal dysplasia. Because some cases go undiagnosed or misdiagnosed, determining the true frequency these disorders in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of recessive multiple epiphyseal dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of recessive multiple epiphyseal dysplasia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The disorder may be suspected in individuals with joint pain, particularly in the hips and knees, skeletal malformation of the hands, feet and knees, and scoliosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:251307", "name_zh": "特发性复发性心包炎", "Name": "Recurrent Pericarditis", "disease_name": "Recurrent Pericarditis", "synonyms": "", "disease-overview": "", "symptoms": "The main symptom of pericarditis is chest pain, which is present in the vast majority of affected individuals. Typically, the pain is described as sharp and worse when coughing or taking a deep breath (pleuritic). The typical pain seen in pericarditis is also worse when lying down and is partially relieved when leaning forward. It can radiate to the neck, upper back or shoulders. Other symptoms that are associated with pericarditis include shortness of breath (dyspnea), fever, fatigue, malaise and the sensation of an irregular heartbeat (palpitations). Another feature frequently seen in pericarditis is accumulation of fluid in the space between the heart and the pericardium (pericardial sac), which is known as a pericardial effusion. The symptoms seen with a second or subsequent episode of recurrent pericarditis are often similar to the first event, although they tend to be less severe with recurrences. An episode of pericarditis can last days to weeks or longer. Although the symptoms of pericarditis can significantly affect quality of life, affected individuals typically have no symptoms between episodes. The number of episodes of recurrent pericarditis varies greatly between patients.", "causes": "The causes of pericarditis can be divided in two major categories: those that lead to isolated pericarditis and systemic diseases that can involve the pericardium as one of their manifestations. Most cases of isolated pericarditis are idiopathic. Viral infections have been considered to initiate first episodes of idiopathic pericarditis, but it is not clear how often this is actually the case. Dysfunction of the immune system is thought to play a role in recurrent cases of idiopathic pericarditis. Bacteria (notably tuberculosis), parasites and fungi can also be implicated more rarely, but it is unusual for these non-viral infections to be limited to the pericardium. Pericarditis can also occur after a heart attack (peri-infarction pericarditis and Dressler syndrome) or after cardiac surgery (post-pericardiotomy syndrome) and other types of invasive cardiac procedures. These types of pericarditis are known collectively as post-cardiac injury pericarditis.", "affected": "Pericarditis is estimated to affect about 28 individuals per 100,000 in the general population every year. Apart from individuals with predisposing conditions, the most frequently affected group are men between the ages of 20 and 50. However, the disease can occur in people of any demographic, including children. It is estimated that about 15 to 30% of individuals that have an initial episode of idiopathic pericarditis will develop recurrent pericarditis.", "related-disorders": "Symptoms of the following disorders can resemble or be confused with those of pericarditis.", "diagnosis": "The diagnostic evaluation of a patient with suspected pericarditis begins with a complete patient history and physical examination in order to evaluate risk factors, signs and symptoms of the disease, and features that could suggest an alternative diagnosis. An essential part of the physical examination is auscultation of the heart using a stethoscope; in some patients, a characteristic scratching sound, known as a pericardial friction rub, may be heard. The physical exam can also show signs of cardiac tamponade or constrictive pericarditis, such as dyspnea, distended neck veins, edema, or low blood pressure.", "therapies": "In every patient with pericarditis, restriction of physical activity is recommended until symptoms have resolved and inflammatory markers have normalized. If a systemic disease is identified as the cause of pericarditis, therapy should be focused on treating the underlying condition. For instance, antibiotics will be required for a patient with tuberculosis, and chemotherapy or other treatments will be required in a patient with neoplastic pericarditis. Another important consideration is whether the affected individual needs to be admitted to the hospital or can be treated as an outpatient. Although most patients can be treated outside the hospital, patients with high-risk features are usually admitted. These features include fever, a slow (subacute) onset of disease without sudden onset of chest pain, presence of a large pericardial effusion, use of immunosuppressant medications or blood thinners (anticoagulants) or high troponin levels (which suggests myopericarditis)."}
{"OrphaCode": "ORPHA:60032", "name_zh": "复发性呼吸道乳头状瘤病", "Name": "Recurrent Respiratory Papillomatosis", "disease_name": "Recurrent Respiratory Papillomatosis", "synonyms": "juvenile-onset laryngeal papillomatosis", "disease-overview": "", "symptoms": "The specific symptoms, course of the disease, and severity of RRP can vary greatly from one person to another. In some people, the disease may resolve without treatment (spontaneous remissions) or it may remain stable requiring only periodic intervention (e.g. only a few surgeries during their lifetime). In other peoople, the disease may be aggressive requiring frequent medical intervention and potentially more than 100 surgeries during a person’s lifetime.", "causes": "Recurrent respiratory papillomatosis is caused by the human papillomavirus (HPV). This virus is common in human beings with some studies estimating that as many as 75%-80% of men and women will be affected by HPV at some point during their lives if they are not vaccinated against the virus. HPV is passed through genital contact, most often during sex. Most individuals who are infected with HPV never develop any symptoms. There are more than 150 different subtypes of HPV and approximately 40 of these subtypes can affect the genital tract. Two specific subtypes, HPV 6 and HPV 11, account for more than 90% of cases of RRP. These two subtypes are the same HPV subtypes most often identified in genital warts (anogenital condyloma). HPV subtypes 16 and 18 account for most of the remaining cases. Together, these four subtypes are responsible for about 70% of cases of cervical cancer.", "affected": "The juvenile form of recurrent respiratory papillomatosis affects males and females in equal numbers. The adult form affects males slightly more often than females. In the United States, the incidence of RRP was previously estimated to be approximately 2 per 100,000 adults and 4 per 100,000 children with approximately 1,000 new pediatric cases in the United States each year. With the increased uptake of the HPV vaccine, these numbers are dropping precipitously. In children, JORRP is most often diagnosed between the ages of 2-4. In adults, the disorder occurs most often in the third or fourth decade though a second peak around age 60 has recently been noted.", "related-disorders": "A variety of conditions can produce signs and symptoms that are similar to those seen in RRP. Such conditions include asthma, allergies, chronic bronchitis, croup, vocal nodules and gastroesophageal reflux. Comparisons may be useful for a differential diagnosis.", "diagnosis": "", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:398063", "name_zh": "难治性乳糜泻病", "Name": "Refractory celiac disease", "disease_name": "Refractory Celiac Disease", "synonyms": "intractable celiac sprue", "disease-overview": "Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn’s disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.", "symptoms": "The symptoms of refractory disease are not unlike those of untreated celiac disease except that they are usually more severe and more disabling. The more common symptoms include weight loss, diarrhea, abdominal pain, malnutrition and anemia.", "causes": "The exact series of events that leads to refractory celiac disease remains unresolved. Involved are the body’s immune system, especially T lymphocytes and intraepithelial lymphocytes (IEL), cytokines, and antigens. Lymphocytes make up about 25% of a person’s white blood cells and include the B-cells (mature in bone marrow) and T-cells (mature in the thymus), each of which play key roles in the development of immunity. Intraepithelial lymphocytes (IELs) are T-cells that exist in the lining (intraepithelial) of the intestine. A protein on the surface of T lymphocytes called the T-cell receptor (TCR) serves as a docking bay for specific antigens. In celiac disease, T-cells that recognize gluten proteins are activated and proliferate. When gluten is removed from the diet, these T-cells become inactive and the intestinal damage heals. In refractory celiac disease, intestinal T cells are activated without gluten stimulation and intestinal injury persists despite the removal of dietary gluten.", "affected": "Refractory celiac disease is rare among adults and is almost never seen in children. Data regarding the true incidence and prevalence of RCD are unreliable, but some have estimated that there might be 20,000 patients in the USA. However, those estimations are based on incomplete data. In one recent study, 1.5% of patients diagnosed with celiac disease at a single US center developed RCD. Of those with RCD 85% had the less severe Type I RCD.", "related-disorders": "Disaccharide intolerance I is a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of certain sugars (i.e., sucrose) and certain products of starch digestion (dextrins). The sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections (microvilli or brush border) lining the small intestine. When this enzyme complex is deficient, nutrients based on ingested sucrose and starch cannot be absorbed properly from the gut.", "diagnosis": "Virtually all clinicians studying refractory celiac disease emphasize that the diagnosis is based on eliminating all other possible sources of the symptoms and intestinal injury. One article lists more than 10 conditions that must be considered and eliminated before a convincing diagnosis of refractory celiac disease may be made. As noted above, examination of the interior wall of the intestine (upper and lower) by means of an enteroscope or colonoscope as well as obtaining intestinal biopsies to be examined under a microscope is useful, especially to determine if the symptoms are the result of intestinal disorders other than RCD. Capsule endoscopy, which examines the small intestinal lining using a camera mounted on a swallowed pill, may also be useful in evaluating the degree of small intestinal inflammation and injury.  Some specialized centers are able to offer sophisticated examinations of the biopsy materials that in many cases will assist in the diagnosis. These studies emphasize the presence of abnormal populations of T lymphocytes in the tissue indicating a diagnosis of the more aggressive Type II RCD. Other imaging studies (barium X-ray, CT scan, capsule enteroscopy and MRE) may be undertaken, especially if there is concern for the presence of a lymphoma.", "therapies": "Several therapies for RCD have been tried in uncontrolled tests with inconclusive results. Among the therapies tested in this way are: elemental diet (an elemental diet is a liquid diet consisting of nutrients that require no digestion, including amino acids, carbohydrates, vitamins, minerals, and triglycerides); and total parental nutrition (TPN) that is defined as nutrition maintained entirely by intravenous injection or by some other nongastrointestinal route. Steroid therapy is a mainstay of treatment but its beneficial effect is short-lived in patients of lymphoma. Treatment involving other immunosuppressive drugs such as azathioprine, cyclosporine, enteric-coated budesonide, 5-aminosalicylic acid (5-ASA), or inflixamab has been used with a limited number of patients.  More recently chemotherapy with cladribine with or without autologous stem cell transplantation has also been reported to be useful."}
{"OrphaCode": "ORPHA:773", "name_zh": "Refsum病", "Name": "Refsum disease", "disease_name": "Refsum Disease", "synonyms": "disorder of cornification 11 (phytanic acid type)", "disease-overview": "", "symptoms": "At birth, individuals with Refsum disease generally appear normal although they may show shorter bones in the hands and feet (metacarpals and metatarsals, respectively). Between 10 and 20 years old, individuals may show their first symptom which is most frequently the loss of night vision (retinitis pigmentosa). Some people may not show any symptoms until up to 50 years of age. Retinitis pigmentosa occurs because light-sensing cells in the retina, a layer in the back of the eye, gradually deteriorate. The initial loss of night vision usually occurs during childhood, and the progression toward loss of peripheral vision and full blindness may occur over the course of years.", "causes": "Most cases (90%) of Refsum disease result from a change (mutation) in the PHYH gene. Most of the remaining cases result from a mutation in the PEX7 gene which transports PHYH into the peroxisomal compartment in cells.  Mutations in PHYH and PEX7 genes cause abnormal functioning of peroxisomes, which are structures that allow for the breakdown of fatty acids, including phytanic acid. Specifically, PHYH codes for the phytanoyl-CoA hydroxylase enzyme that is used in the peroxisome to break down phytanic acid. Phytanic acid comes from the diet and is derived from bacterial fermentation of green plants or algae. It is commonly found in dairy, beef, lamb and other ruminant animal-derived food stuffs as well as some seafood. The improper functioning of the peroxisome and related enzymes means that phytanic acid cannot be broken down and thus accumulates in the cell. It is currently unclear how the buildup of phytanic acid is toxic and affects vision or how it causes other features of the disease.", "affected": "Refsum disease occurs in approximately 1 in 1,000,000 people. Males and females are affected in equal numbers.", "related-disorders": "Phytanic acid levels can also be raised in other disorders.", "diagnosis": "Refsum disease can be diagnosed based on the finding of highly raised phytanic acid in a blood sample. Levels of pristanic acid, the next step in the pathway, are usually low.  This initial diagnosis must then be confirmed with either molecular genetic testing for mutations in either the PHYH or PEX7 genes or by enzyme analysis in a skin biopsy to determine if there is abnormal activity of the enzyme phytanoyl-CoA hydroxylase pathway.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:728", "name_zh": "复发性多软骨炎", "Name": "Relapsing polychondritis", "disease_name": "Relapsing Polychondritis", "synonyms": "chronic atrophic polychondritis", "disease-overview": "Relapsing polychondritis is a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body. Deterioration of the cartilage may affect any site of the body where cartilage is present. Ears, larynx and trachea may become floppy, and the bridge of the nose can collapse into a saddlenose shape. The aortic heart valve may also be affected.", "symptoms": "Symptoms of relapsing polychondritis usually begin with the sudden onset of pain, tenderness and swelling of the cartilage of one or both ears. This inflammation may spread to the fleshy portion of the outer ear causing it to narrow. Attacks may last several days to weeks before subsiding. Middle ear inflammation can cause obstruction of the eustachian tube. Recurrent attacks may lead to hearing loss.", "causes": "The exact cause of relapsing polychondritis is not known. It is thought to be an autoimmune disease. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases may be linked to abnormal reactions by blood cells (serum antibodies), to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or thyroid. Symptoms of relapsing polychondritis may arise when autoantibodies attack human cartilage.", "affected": "Relapsing polychondritis affects males and females in equal numbers. Symptoms usually begin between forty and sixty years of age.", "related-disorders": "Symptoms of the following disorders can be similar to those of relapsing polychondritis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Rheumatoid arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient’s joints remain painful or uncomfortable for weeks, months, or even years.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1848", "name_zh": "肾缺如，双侧", "Name": "Renal Agenesis, Bilateral", "disease_name": "Renal Agenesis, Bilateral", "synonyms": "Kidney Agenesis", "disease-overview": "Bilateral Renal Agenesis is the absence of both kidneys at birth.  It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby.", "symptoms": "Bilateral renal agenesis is characterized by the absence of kidneys and of urine in a baby.  The face usually consists of wide-set eyes; a parrot beak nose; a receding chin, and large low set ears deficient in cartilage.  Other symptoms may include excess and dehydrated skin, a prominent fold at the corner of each eye, the facial expression of an older infant, and deformities of the hands and feet.", "causes": "Bilateral renal agenesis is an autosomal dominant genetic disorder.  Human  traits, including the classic genetic diseases, are the product of the  interaction of two genes, one received from the father and one from the  mother.  In dominant disorders, a single copy of the disease gene (received  from either the mother or father) will be expressed dominating the other  normal gene and resulting in the appearance of the disease.  The risk of  transmitting the disorder from affected parent to offspring is 50 percent for  each pregnancy regardless of the sex of the resulting child.", "affected": "Bilateral renal agenesis is found in male infants more frequently than females.  It tends to occur in the children of parents having kidney abnormalities.  It is a very rare disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of Bilateral Renal Agenesis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Oligohydramnios Sequence (Potter Syndrome) is characterized by an insufficient level of amniotic fluid.  It may be caused by the absence of urinary output by the fetus or by chronic leakage of fluid from the amniotic sack.", "therapies": "Treatment of bilateral renal agenesis is symptomatic and supportive."}
{"OrphaCode": "ORPHA:217071", "name_zh": "肾细胞癌", "Name": "Renal Cell Carcinoma", "disease_name": "Renal Cell Carcinoma", "synonyms": "Grawitz Tumor", "disease-overview": "Renal cell carcinoma is a form of kidney cancer. Some patients with renal cell carcinoma do not have symptoms (asymptomatic). When symptoms are present, they may include blood in the urine; urine that is brown or rusty-colored; abdominal pain; weight loss; enlargement of one testicle or varicose veins of the testis (varicocele) in a male patient; fever; a thin, malnourished appearance; vision abnormalities; and elevated blood pressure. The most common feature of the syndrome is the passing of blood in the urine (hematuria).", "symptoms": "Renal cell carcinoma, though rare, is the most common form of kidney cancer found in adults.  Usually the first sign that something is wrong is the passing of blood in the urine.   Other signs may include flank pain and an abdominal mass that can be felt by the examining doctor.  Other symptoms of renal cell carcinoma may include high blood pressure (hypertension), anemia, abnormal liver function and fever.  Sometimes symptoms do not appear until the cancer has spread to another part of the body, usually the lymph nodes, lungs or the long bones.", "causes": "The exact cause of renal cell carcinoma is not known.  However, a history of smoking does increase the risk for developing this disease.  Patients with von Hippel-Lindau disease, horseshoe kidneys, adult polycystic kidney disease and kidney failure are also more prone to develop renal cell carcinoma.", "affected": "Renal cell carcinoma is more common in males than in females (ratio of 2 or 3 to 1) and in persons with a history of smoking.  It is also more common in persons with other types of kidney disorders and tends to run in some families.  Renal cell carcinoma accounts for approximately 30,000 new cases of kidney malignancies per year in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of renal cell carcinoma.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Benign familial hematuria is a nonprogressive kidney disorder that usually begins in childhood and is characterized by red blood cells in the urine, and thinning of the microscopic parts of the kidney.  It is often preceded by a respiratory infection.  (For more information on this disorder, choose Hematuria as your search term in the Rare Disease Database.)", "therapies": "Therapy"}
{"OrphaCode": "ORPHA:69076", "name_zh": "家族性肾性葡糖尿症", "Name": "Renal Glycosuria", "disease_name": "Renal Glycosuria", "synonyms": "benign glycosuria", "disease-overview": "Renal (kidney) glycosuria is a rare condition in which too much of the simple sugar glucose is removed through the urine. This happens even though there are normal or low levels of glucose in the blood. When the kidney is working correctly, glucose is only removed into the urine when there is too much in the blood. However, in people with renal glycosuria, glucose is removed in the urine when it should not be because the renal tubules in the kidneys are not working properly. The renal tubules are the part of the kidney that cleans the blood. Most affected people have no symptoms (asymptomatic). When renal glycosuria occurs by itself, the condition can be inherited in an autosomal dominant or autosomal recessive pattern.", "symptoms": "In people with renal glycosuria, glucose is removed in the urine even though there are normal or low levels of glucose in the blood. As blood flows through the kidneys, glucose and other substances are cleaned from the liquid portion of the blood. The newly cleaned blood then moves through tubes in the kidneys (renal tubules). Helpful substances, including glucose, sodium, and wate, are reabsorbed and returned to the bloodstream. Unwanted substances are removed from the bloodstream through the urine. When the kidney is working, glucose is only removed into the urine when there is too much sugar in the blood. However, in people with renal glycosuria, extra glucose is removed and/or, the kidney is unable to reabsorb glucose as quickly as it should. (For more, see Causes below.)", "causes": "Renal glycosuria is an inherited problem of membrane transport (i.e., an abnormal renal transport syndrome). Membrane transport disorders are marked by problems with the movement (i.e., transport) of one or more compounds across the outer layer of the cell (cell membranes). They are thought to result from harmful genetic changes (mutations) that cause certain membrane proteins to not be made correctly.", "affected": "Renal glycosuria occurs in about 1/33,000 people in the general population and affects males and females equally. Most people with renal glycosuria have no symptoms (asymptomatic). Less commonly, serious symptoms (e.g., dehydration, ketosis) may be seen. This happens most often under certain conditions such as pregnancy or starvation.", "related-disorders": "Certain features of the following disorders may be similar to those connected to renal glycosuria. Comparisons may be useful for a making a correct diagnosis:", "diagnosis": "Diabetes mellitus is a common disorder of high blood sugar (glucose) levels. It is due to a lack of insulin or an inability to use insulin. The hormone insulin helps with movement of glucose into cells for the body’s energy needs. Insulin may also go into liver and fat cells for storage. Too little insulin may lead to poor absorption of glucose leading to increased levels of glucose in the blood (hyperglycemia) and high levels of glucose in the urine (glycosuria). Not enough insulin may lead to reduced breakdown of fat (fat metabolism) and degeneration or loss of function of certain blood vessels. Symptoms may include excessive urination (polyuria) and increased thirst (polydipsia), and excessive hunger and eating (polyphagia). Other complications may arise without proper treatment. Although the exact causes of diabetes mellitus are not known, genetic factors are thought to play some role.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:319319", "name_zh": "肾髓样癌", "Name": "Renal Medullary Carcinoma", "disease_name": "Renal Medullary Carcinoma", "synonyms": "RMC", "disease-overview": "", "symptoms": "The most common first sign of RMC is blood in the urine (hematuria) and patients may also feel pain in their flank around the kidney area or (less commonly) feel a mass in their abdomen, usually on the right side. About half of the patients with RMC will begin losing weight unintentionally and may develop fevers and night sweats.", "causes": "The exact reason why RMC develops is not fully understood but almost all patients have a blood disorder that can make their red blood cells sickle. These disorders are called sickle hemoglobinopathies and include sickle cell trait and sickle cell disease. Of note, most individuals with sickle cell trait are otherwise healthy and many are not aware that they have this blood disorder. Other than the presence of sickle hemoglobinopathy, there are no other known genetic predispositions that can explain why only certain individuals will develop RMC. There is currently no evidence to suggest that family members of a patient with RMC are at increased risk for developing RMC themselves. Although individuals with sickle hemoglobinopathies should take early signs and symptoms of possible RMC very seriously, there are currently no known effective strategies to screen for RMC in individuals without symptoms.", "affected": "RMC predominantly afflicts young adults and adolescents with sickle cell trait, sickle cell disease or other hemoglobinopathies that can cause red blood cells to change into a sickle shape. In the United States, such sickle hemoglobinopathies are mainly found in individuals of African descent. In other countries such as Greece, sickle hemoglobinopathies are found mainly in Caucasians. The presence of these sickle hemoglobinopathies increases the risk of RMC regardless of race or ethnicity. Men are twice as likely to be affected by RMC than women, and about 70% of RMC cases start from the right kidney. RMC is the third most common kidney cancer among children and young adults. Half of the patients diagnosed with RMC are 28 years old or younger with some being as young as 9 years old. Less commonly, patients can be 35 years old or older.", "related-disorders": "Young children (average age of 9 years old) with sickle cell trait are also at risk for developing another distinct cancer named VCL-ALK renal cell carcinoma (VCL-ALK RCC) also arising from the renal medulla. This cancer is characterized by the fusion of two genes called VCL and ALK. This VCL-ALK fusion is not found in RMC. Furthermore, VCL-ALK RCC expresses INI1 and is generally a much less aggressive cancer than RMC.", "diagnosis": "Because RMC does not cause symptoms early in the disease, getting an early diagnosis is difficult. Since treatment of RMC can be more effective the earlier the disease is identified, early diagnosis is important.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70587", "name_zh": "婴儿急性呼吸窘迫综合征", "Name": "Infant acute respiratory distress syndrome", "disease_name": "Respiratory Distress Syndrome, Infan", "synonyms": "Hyaline Membrane Disease", "disease-overview": "Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP).", "symptoms": "Infant  respiratory  distress syndrome is characterized by diminished oxygen intake in the premature newborn. A clear membrane is found lining the alveolar (air cell) ducts in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant).  The surfactant is a lipoprotein based on lecithin that stabilizes alveolar membranes.  When this surfactant is missing, breathing is difficult and may lead to collapse of a lung.  The affected infant must be placed on some type of ventilation, either mechanical or physical, in order to continue breathing.", "causes": "Infant respiratory distress syndrome is caused by the absence of a natural lung wetting agent (surfactant) in the immature lungs of infants.  Since surfactant normally develops late in prenatal life it usually is not present in the very premature infant of about 26-36 weeks of gestational age.  This can result in improper functioning of the alveoli (air cells) of the lungs causing breathing difficulties and collapsed lungs.", "affected": "Infant respiratory distress syndrome affects male and female premature infants in equal numbers.  Among approximately 250,000 infants born prematurely each year in the United States, up to 50,000 will have IRDS which will kill approximately 5,000 of them.  Due in large part to the use of surfactants beginning in 1989, infant mortality rates in the United States have dropped from 9.7 per 1,000 births in 1989 to 8.9 per 1,000 births in 1991.  Infants with surfactant protein-B deficiency do not respond to surfactant replacement therapy.", "related-disorders": "Symptoms of the following disorders can be similar to those of infant respiratory distress syndrome, although they tend to affect older children or adults:", "diagnosis": "", "therapies": "Treatment of infant respiratory distress syndrome consists of mechanical or physical breathing assistance such as positive end expiratory pressure (PEEP). Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:247691", "name_zh": "视网膜血管病变伴脑白质营养不良和全身表现", "Name": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "disease_name": "Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations", "synonyms": "RVCL-S", "disease-overview": "", "symptoms": "Hallmark symptoms of RVCL-S usually begin in middle age (~35-50 years) with eye issues such as an increasing number of floaters and blind spots. The main pathologic process of RVCL-S is that small blood vessels prematurely drop out; that is, deteriorate and disappear [3]. This leads to mini strokes (or micro-infarcts) in tissues. The loss of blood supply affects both the eye (retina) and the brain (white matter) since these organs serve key functions and are sensitive to even small disruptions in blood flow. As more vessels drop out, there is development of increased vision loss and larger brain infarcts (or tumor-like lesions), especially if the mini-strokes are clustered.", "causes": "A mutation in the TREX1 gene causes RVCL-S. The abnormal gene results in production of a truncated form of TREX1 protein.", "affected": "RVCL-S affects males and females with equivalent frequency and commonly begins in middle age (35-50 years). It is commonly first noticed as eye symptoms (increased ‘floaters’ or ‘blind spots’). Patients have been identified in several countries including the USA, UK, Australia, China, France, Germany, Italy, Japan, Mexico, the Netherlands, Spain, Switzerland, Taiwan and Turkey.", "related-disorders": "RVCL-S is frequently misdiagnosed. This may lead to unnecessary and invasive diagnostic procedures such as biopsies of brain, liver or kidney. Symptoms of the following disorders can be similar to those of RVCL-S:", "diagnosis": "RVCL-S should be considered when a middle-aged individual has retinal and microvascular abnormalities, in addition to a family history of similar symptoms. The definitive work up is genetic testing for mutations in the TREX1 gene from a small blood sample. Mutations on just one allele, in a specific region distal to the enzyme region, conclusively establish if the patient has the disease. Additional testing may include a retinal exam and a brain MRI. Genetic counseling, as well as consultation with a physician familiar with RVCL, is strongly recommended prior to genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:791", "name_zh": "色素性视网膜炎", "Name": "Retinitis Pigmentosa", "disease_name": "Retinitis Pigmentosa", "synonyms": "progressive pigmentary retinopathy", "disease-overview": "Retinitis pigmentosa (RP) comprises a large group of inherited vision disorders that cause progressive degeneration of the retina (the so-called inherited retinal diseases, or IRDs), the light sensitive membrane that coats the inside of the eyes. Peripheral (or side) vision gradually decreases and eventually is lost in most patients. Central vision is usually preserved until late in these conditions. Some forms of RP can be associated with deafness, obesity, kidney disease and various other general health problems, including central nervous system and metabolic disorders and occasionally chromosomal abnormalities.", "symptoms": "RP usually begins as night or dim light visual impairment (that is, difficulty seeing in dimly lit environments or at dusk, or adapting to, or recovering function in, dim light after being in bright light for any length of time). Typically, this is followed by the affected individual’s growing awareness of a loss of peripheral vision. Symptoms are more often noticed between the age 10 and 40, but earlier and later onset forms of RP exist. Characteristically, symptoms develop gradually over time. The sudden onset of these same symptoms should point to a different cause, such as an autoimmune process. Older people with sudden onset of these symptoms are especially at risk for experiencing them as the result of having cancer (so called paraneoplastic retinopathy, which often co-occurs with an optic nerve involvement as well).", "causes": "Retinitis pigmentosa is a group of hereditary progressive disorders that may be inherited in an autosomal recessive, autosomal dominant or X-linked recessive pattern. Maternally inherited variants of RP transmitted via the mitochondrial DNA also exist.", "affected": "RP as a group of vision disorders affects about 1 in 3,000 to 1 in 4,000 people in the world. This means that, with a population of about 330 million in the United States in February 2021 (see https://www.census.gov for continuous updates), about 82,500 to 110,000 people in the United States have RP or a related disorder. With a worldwide population presently estimated at over 7.74 billion, it can be estimated that approximately 1.94 to 2.58 million people around the world have one of these disorders. Excluding age-related macular degeneration and glaucoma, the genetic causes of which are complex and linked simultaneously to more than one gene (so called polygenic disorders), RP is the most common cause of inherited visual loss.", "related-disorders": "Signs of the following disorders can be similar to RP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Leber congenital amaurosis (LCA), severe early childhood-onset retinal dystrophy (SECORD), and early-onset RP (EORP) are special forms of RP characterized by the presence of severe symptoms from birth or shortly thereafter, respectively. This sub-group of RP forms is inherited in an autosomal recessive fashion, although X-linked RP also tends to have a significantly earlier onset than other forms of RP. When present from birth as in LCA, the visual deficit of affected children is typically recognized because of the coexistence of unsteadiness of the eyes known as nystagmus. Nystagmus is characterized by either fast-beating movements or by wandering movements of the eyeballs. The appearance of the back of the eye can be normal or near normal for several years, but testing of retinal function in response to flashes of light (the electroretinogram, or ERG) will invariably reveal the disease status in these patients. LCA patients often develop a deformation of the cornea causing high astigmatism up to a frank cone-shaped deformation of the cornea known as keratoconus. Prompt recognition of, and molecular genetic diagnostic testing for LCA has become increasingly important, since an FDA-approved gene therapy called Luxturna has become commercially available in 2017 as a treatment for one form of LCA linked to the RPE65 gene (see below). There are many different genes responsible for LCA and for recessive EORP. (For more information on this condition, choose Leber congenital amaurosis as your search term in the Rare Disease Database)", "therapies": "Treatments"}
{"OrphaCode": "ORPHA:790", "name_zh": "视网膜母细胞瘤", "Name": "Retinoblastoma", "disease_name": "Retinoblastoma", "synonyms": "", "disease-overview": "Retinoblastoma is an extremely rare malignant tumor that develops in the nerve-rich layers that line the back of the eyes (retina). The retina is a thin layer of nerve cells that senses light and converts it into nerve signals, which are then relayed to the brain through the optic nerve. Retinoblastoma is most commonly diagnosed in children under the age of three. The most typical finding associated with retinoblastoma is the reflection of light off a tumor behind the lens of the eye, which causes the pupil to appear white, the so-called cat’s eye reflex (leukocoria). In addition, the eyes may be misaligned so that they appear crossed (strabismus). In some affected children, the eye(s) may become red and/or painful. The presence of a retinoblastoma may cause glaucoma, a condition marked by a rise in the pressure within the eyeball that prevents the normal drainage of fluid from the eye and potentially causes characteristic damage to the optic nerve. Retinoblastoma may affect one eye (unilateral) or both eyes (bilateral). Retinoblastomas occur in two forms – heritable and non-heritable. Bilateral forms are heritable and usually diagnosed at a younger age. In most affected children, retinoblastoma is non-heritable; it occurs spontaneously for no apparent reason.", "symptoms": "In approximately 60 percent of children, the presenting sign of retinoblastoma is leukocoria. Initially, leukocoria may only be detectable at certain angles or under certain light conditions. Leukocoria is often seen on flash photography. Leukocoria can be caused by conditions other than retinoblastoma. The detection of leukocoria warrants an immediate evaluation by an eye specialist (ophthalmologist).", "causes": "Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. Human body cells normally have 46 chromosomes, 23 of which are inherited from the mother and 23 of which are inherited from the father. Pairs of human chromosomes numbered from 1 through 22 are called autosomes and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 13q14.1-q41.2 refers to bands 14.1-14.2 on the long arm of chromosome 13. The numbered bands specify the location of the thousands of genes that are present on each chromosome. The retinoblastoma gene RB1 is located on the long arm (q) of chromosome 13 (13q14.1-q14.2).", "affected": "Although retinoblastoma is a rare disorder, it is the most common cancer of the eye in children, accounting for about 3% of all childhood malignancies. Retinoblastoma affects males slightly more often than females. The incidence in the United States and Europe is estimated to be 2-5 children per 1,000,000 people in the general population. The age-adjusted annual incidence for children aged 0-4 in the United States is 10-14 children per 1,000,000. This equates to about 1 in 14,000-18,000 live births. Incidence is the number of newly diagnosed people with a disorder identified in a given year. Two-thirds of children are affected before the age of 2 and more than 90% of retinoblastomas become apparent before the age of five years.", "related-disorders": "Symptoms of the following disorders can be similar to those of retinoblastoma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of retinoblastoma is made based upon a thorough clinical evaluation, detailed patient history, the identification of characteristic symptoms, and a variety of specialized tests. The presenting symptom is usually leukocoria. A complete examination of the interior of the eye (fundoscopic examination under anesthesia – EUA) may be performed to locate the presence of a tumor or tumors. Magnetic resonance imaging (MRIs) may be used to determine the extent of the tumor(s) and determine if the tumor has spread to surrounding structures or tissue. Ultrasonography may be used to rule out other conditions. Computed tomography (CT) scans are generally avoided because of the potential risk of additional radiation-induced tumors if the child has hereditary retinoblastoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90050", "name_zh": "早产儿视网膜病", "Name": "Retinopathy of prematurity", "disease_name": "Retinopathy of Prematurity", "synonyms": "retrolental fibroplasia (obsolete)", "disease-overview": "Retinopathy of prematurity (ROP) is a potentially blinding disease affecting the retinas in premature infants. The retinas are the light-sensitive linings of the insides of the eyes. In infants born prematurely, the blood vessels that supply the retinas are not yet completely developed. Although blood vessel growth continues after birth, these vessels may develop in an abnormal, disorganized pattern, known as ROP. In some affected infants, the changes associated with ROP spontaneously subside. However, in others, ROP may lead to bleeding, scarring of the retina, retinal detachment and visual loss. Even in cases in which ROP changes cease or regress spontaneously, affected children may have an increased risk of certain eye (ocular) abnormalities, including nearsightedness, misalignment of the eyes (strabismus), and/or future retinal detachment. The two major risk factors for ROP are a low birth weight and premature delivery.", "symptoms": "Retinopathy of prematurity (ROP) is characterized by abnormal and uncontrolled development of blood vessels in the back of the eye (i.e., the retina) in premature infants. The retina is the innermost tissue layer in which images are focused at the back of the eye; it contains light-responding nerve cells (rods and cones) that convert light images into nerve impulses, which are conveyed via the optic nerve to the brain. During fetal development–at about 16 weeks’ gestation*–blood vessels that supply the retina begin to bud from the center of the retina (i.e., near the optic nerve), gradually reaching the front edges (periphery) of the retina at about the time of normal delivery. Thus, when infants are born prematurely, this process is incomplete. (*Gestation is the period of time from fertilization to birth. Full term is the normal period of human gestation from about 38 to 42 weeks.) ROP occurs when the blood vessel development is abnormal, with disorganized branching of retinal vessels and anomalous interconnections.", "causes": "The risk factors for ROP are not completely understood. However, ROP occurs exclusively in premature infants, particularly those who weigh less than 3 pounds, 5 ounces (1,500 grams) at birth and those born before 28 weeks’ gestation. In countries with less developed newborn care practices, severe ROP can occur in larger premature infants.", "affected": "ROP is a leading cause of visual impairment and blindness in infants in many industrialized and middle-income countries. As noted above, an increased incidence of ROP in the 1940s and 1950s was shown to be due to the use of high concentrations of supplemental oxygen in premature infants. The number of cases decreased with measures to monitor oxygen blood levels carefully. However, with modern advances in care and technology in neonatal intensive care units (NICUs), the incidence of ROP has increased as more premature infants of lower birth weights survive. Careful control of blood oxygen levels reduces the risk of ROP without compromising measures necessary to sustain life. Again, supplementary oxygen alone does not appear to be sufficient for the development of ROP. (For more, see Causes above.)", "related-disorders": "Symptoms of the following disorders can be similar to those of ROP. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The eyes of premature infants at risk for ROP should be examined thoroughly approximately four to six weeks after birth and regularly reexamined as required until retinal blood vessel growth is complete. Although specific guidelines vary, at-risk infants typically include those who are born before 30 weeks' gestation and those who weigh less than 1,500 grams at birth–or weigh more than 1,500 grams but are in unstable health with a high risk for ROP. Parents of premature infants should speak with their children's health care team by the time the infant is five weeks old about guidelines concerning at-risk infants and evaluations for evidence of ROP.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:792", "name_zh": "X连锁视网膜劈裂症", "Name": "Retinoschisis", "disease_name": "Retinoschisis", "synonyms": "Congenital Retinal Cyst", "disease-overview": "Retinoschisis means splitting of the eye’s retina into two layers. There are two forms of this disorder. The most common is an acquired form that affects both men and women. It usually occurs in middle age or beyond, although it can occur earlier, and it is sometimes known as senile retinoschisis. The other form is present at birth (congenital) and affects mostly boys and young men. It is known as juvenile, X-linked retinoschisis.", "symptoms": "Retinoschisis is characterized by a reduction in visual acuity.  There may also be a loss of peripheral vision.   Very few people become totally blind from either form of the disorder, but some men with the juvenile form may ultimately have very poor vision.", "causes": "The cause of acquired retinoschisis is not known.  Although it often occurs in middle age or beyond, it may appear in individuals as young as 20.", "affected": "Senile retinoschisis usually affects people in their 50s, 60s or 70s, but it has been found in persons much younger.  It affects males and females in equal numbers.", "related-disorders": "Central serous chorioretinopathy is a retinal disorder that affects the central area of the retina (macula).  Its cause is unknown.", "diagnosis": "The diagnosis of retinoschisis is usually made during an examination of the back of the eye (fundus) where any splits, tears or rips may be seen.  One diagnostic tool is Optical Coherence Tomography (OCT), which that uses light waves to create images of the retina.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:49041", "name_zh": "IgG4相关性腹膜后纤维化", "Name": "IgG4-related retroperitoneal fibrosis", "disease_name": "Retroperitoneal Fibrosis", "synonyms": "Idiopathic Retroperitoneal Fibrosis", "disease-overview": "Retroperitoneal fibrosis is a rare inflammatory disorder in which abnormal formation of fiber-like tissue (fibrosis) occurs behind the membrane that lines the cavity of the abdomen (peritoneum). This abnormal tissue growth often spreads to affect the tubes that carry urine from the kidney to the bladder (ureters). Often these tubes become blocked by the excess tissue. Specific symptoms may vary depending upon the exact location of tissue growth and how far it spreads. In most cases the cause of this disorder is unknown (idiopathic).", "symptoms": "The most common symptom of retroperitoneal fibrosis is pain in the lower back or abdomen. In many cases this pain is dull, vague and difficult to localize. Additional symptoms may be weight loss, fever, nausea, a low level of circulating red blood cells (anemia), and loss of appetite. Impaired movement of a limb may occur intermittently and abnormal yellow discoloration (pigmentation) of the skin and the whites of the eyes (jaundice) may be present. Swelling of one leg may also occur. Reduced blood flow to the leg may cause pain and discoloration.", "causes": "The exact cause of retroperitoneal fibrosis is not known in about two-thirds of the affected individuals (idiopathic). A drug used in the treatment and prevention of migraine headaches (methysergide) may be the cause of this rare disorder in 12 percent of cases. Malignant tumors are associated with retroperitoneal fibrosis in eight percent of affected individuals. Tissue that has been injured by trauma or surgery may be a factor in some cases.", "affected": "Retroperitoneal fibrosis affects males twice as often as females. The majority of cases occur in individuals between 40 and 60 years of age. However, the disorder can occur at any age, although it is extremely rare in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of Retroperitoneal Fibrosis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Carcinoid Syndrome is a rare, malignant disorder that affects the small bowel, pancreas, and/or stomach.  Slow growing tumors can spread to the lungs, liver and ovary.  Symptoms of this disorder may include flushing, diarrhea, wheezing, stomach pain, and blockage of arteries.  (For more information on this disorder, choose Carcinoid  as your search term in the Rare Disease Database.)", "therapies": "Treatment of retroperitoneal fibrosis depends on the location and extent of the tissue growth."}
{"OrphaCode": "ORPHA:778", "name_zh": "Rett综合征", "Name": "Rett Syndrome", "disease_name": "Rett Syndrome", "synonyms": "classic Rett syndrome", "disease-overview": "", "symptoms": "The symptoms, progression, and severity of Rett syndrome can vary dramatically from one person to another. The disorder primarily affects females and most likely represents a spectrum of disease associated with mutations of the MECP2 gene. A wide range of disability can potentially be associated with Rett syndrome. Symptoms generally appear in stages. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Approximately 90-95% of Rett syndrome cases are caused by identifiable mutations of the MECP2 gene. More than 200 different mutations have been identified. In 99% of cases, these mutations occur sporadically and are not possessed or transmitted by a child’s parents (de novo mutations). Therefore, in the vast majority of cases Rett syndrome is not an inherited disorder. In such cases, the parents have normal chromosomes and the mutation arises in one of the parent’s reproductive (germ) cells, usually on the paternal side.", "affected": "Rett syndrome occurs almost exclusively in girls. The incidence of Rett syndrome in the United States is estimated to be 1 in 10,000 girls by age 12. Cases of Rett syndrome can go undiagnosed or misdiagnosed, making it difficult to determine the disorder’s true frequency in the general population. Rett syndrome is the second most common cause of severe intellectual disability after Down syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rett syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Rett syndrome is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. A variety of specialized tests may be conducted to rule out other conditions that can cause similar symptoms. A set of updated diagnostic criteria was recently published (Neul et al 2010). The fulfillment of these diagnostic criteria can lead to a clinical diagnosis of Rett syndrome. The report also includes diagnostic criteria for variant forms of Rett syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3096", "name_zh": "Reye综合征", "Name": "Reye Syndrome", "disease_name": "Reye Syndrome", "synonyms": "fatty liver with encephalopathy", "disease-overview": "Reye syndrome is a rare disorder of childhood and adolescence. It primarily affects individuals under 18 years of age, particularly children from approximately age four to 12 years. In rare cases, infants or young adults may be affected. The disorder’s cause is unknown. However, there appears to be an association between the onset of Reye syndrome and the use of aspirin-containing medications (salicylates) in children or adolescents with certain viral illnesses, particularly upper respiratory tract infections (e.g., influenza B) or, in some cases, chickenpox (varicella). Although any organ system may be involved, Reye syndrome is primarily characterized by distinctive, fatty changes of the liver and sudden (acute) swelling of the brain (cerebral edema). Associated symptoms and findings may include the sudden onset of severe, persistent vomiting; elevated levels of certain liver enzymes in the blood (hepatic transaminases); unusually high amounts of ammonia in the blood (hyperammonemia); disturbances of consciousness; sudden episodes of uncontrolled electrical activity in the brain (seizures); and/or other abnormalities, leading to potentially life-threatening complications in some cases. Due to the potential association between the use of aspirin-containing agents and the development of Reye syndrome, it is advised that such medications be avoided for individuals under age 18 years who are affected by viral infections such as influenza or chickenpox.", "symptoms": "The symptoms of Reye syndrome typically begin after a viral illness, particularly an upper respiratory infection (e.g, with influenza B virus) or, in some cases, chickenpox (varicella). Less commonly, Reye syndrome may develop after infection with other viral agents, such as influenza A or rubella. (For further information, please see the Causes section of this report below.)", "causes": "The specific cause of Reye syndrome remains unknown. However, according to researchers, there appears to be an association between the condition’s onset and the administration of aspirin-containing medications (salicylates) in children or adolescents with certain viral illnesses. This typically includes upper respiratory tract infections caused by the influenza B virus or chickenpox (varicella). Less commonly, the development of Reye Syndrome has been reported in association with other viral infections, including influenza A, herpes simplex, rubella, or Epstein-Barr.", "affected": "Reye syndrome is a rare disorder that appears to affect males and females in relatively equal numbers. The disorder occurs almost exclusively in individuals younger than age 18 years. Most cases occur at about age 6, with most affected individuals ranging in age from approximately four to 12 years. However, there have been rare instances in which Reye syndrome has affected infants and young adults. Evidence suggests that children and adolescents in rural and suburban areas appear to be affected more frequently than those in urban areas.", "related-disorders": "Symptoms of the following disorders may be similar to those of Reye syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "According to researchers, Reye syndrome should be suspected in any infants, children, or adolescents who experience severe, persistent vomiting in association with evidence of unexplained acute swelling of the brain. The condition may be diagnosed based upon a complete patient history, thorough clinical evaluation, characteristic physical findings, and the results of specialized laboratory tests.", "therapies": "According to reports in the medical literature, the mainstays of treatment include early diagnosis; prompt administration of intensive care as required; and measures to correct metabolic abnormalities and prevent or control increased pressure between the skull and brain (intracranial pressure [ICP]) secondary to cerebral edema."}
{"OrphaCode": "ORPHA:3099", "name_zh": "风湿热", "Name": "Rheumatic fever", "disease_name": "Rheumatic Fever", "synonyms": "Acute Rheumatic Fever", "disease-overview": "Rheumatic fever is an inflammatory disease that is rare in the United States but common in some other parts of the world. It primarily affects children between the ages of 6 and 16, and develops after an infection with streptococcal bacteria, such as strep throat or scarlet fever. About 5% of those with untreated strep infection will develop rheumatic fever.", "symptoms": "The streptococcal infection that precedes rheumatic fever may or may not be noticeable as a sore throat.  After a latent period of two or three weeks, the patient may develop symptoms of rheumatic fever.  The most common symptoms are: sore throat; swollen, red tonsils; fever; headache; and joint and muscle aches, especially in the knees.", "causes": "Although rheumatic fever is clearly linked to Group A streptococcal infections (strep throat), the exact mechanism causing the disorder is not well understood.  Strep throat is highly contagious, whereas rheumatic fever is not contagious.  People who have had rheumatic fever tend to develop flare-ups with repeated strep infections.", "affected": "Rheumatic fever usually affects children between the ages of 6 and 16, but may occur among young adults as well.  Although outbreaks have steadily declined since the end of World War II in the United States as a result of the use of antibiotics such as penicillin and its derivatives, several outbreaks linked to a particularly virulent strain of streptococcal infection have occurred.", "related-disorders": "Symptoms of the following disorder can be similar to those of rheumatic fever.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Juvenile rheumatoid arthritis, also known as Still’s disease or chronic polyarthritis, is characterized by progressive pain and tenderness in one or more joints.  This disorder, which tends to affect girls more than boys, may begin abruptly with high fever, joint pain, and a variety of skin rashes. Normal growth may be diminished and the spleen and/or liver may become enlarged.  The exact cause is not known.  Some forms of arthritis are believed to be autoimmune disorders (the body’s natural defenses against invading organisms suddenly begin to attack healthy tissue).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:177", "name_zh": "肢根型点状软骨发育不良", "Name": "Rhizomelic chondrodysplasia punctata", "disease_name": "Rhizomelic Chondrodysplasia Punctata", "synonyms": "RCDP", "disease-overview": "", "symptoms": "RCDP1 is the most common and best understood type. However, RCDP regardless of type may be categorized as classic which has more severe features and lower plasmalogen levels or nonclassic which has relatively mild features and higher plasmalogen levels.", "causes": "RCDP is caused by changes (variants) in several different genes. These variants affect the function of peroxisomes, which are sac-like structures in cells associated with breakdown of fatty acids and synthesis of different molecules. These gene variants affect the production of plasmalogens, resulting in low plasmalogen levels. RCDP1 is also associated with the accumulation of phytanic acid which does not occur in other types. Individuals with classic RCDP have lower plasmalogen levels and are more severely affected than those with the nonclassic form.", "affected": "RCDP is an ultra-rare condition that occurs in people of all racial or ethnic groups, but most reported patients are from northern Europe such as the UK, Germany, France, Italy, Spain or the Netherlands. In the United States and Western Europe, RCDP affects less than 1 in 100,000 livebirths.", "related-disorders": "More information on these conditions can be found in NORD’s Rare Disease Database.", "diagnosis": "RCDP may be suspected in a newborn baby based on physical features such as development of early-onset cataracts, relative shortening of the proximal limbs (rhizomelia), characteristic facial features or when imagining tests show characteristic skeletal abnormalities. RCDP is definitively diagnosed by biochemical and molecular testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97229", "name_zh": "核黄素转运子缺乏症", "Name": "Riboflavin transporter deficiency", "disease_name": "Riboflavin Transporter Deficiency", "synonyms": "Brown-Vialetto-Van Laere syndrome", "disease-overview": "", "symptoms": "The onset of signs and symptoms can range from infancy to early adulthood. One person reported in the medical literature first presented symptoms at 27 years of age, but most affected individuals show symptoms within the first few years of life. Infants and children often develop normally until symptoms first begin. Sometimes, an infection or fever will occur just before symptoms first begin. The specific signs and symptoms that develop and their severity and their progression can be very different from one person to another, even among members of the same family, but for most people who are affected, the first symptom is sensorineural deafness (hearing loss due to inner ear damage). Generally, the later the onset of symptoms, the milder the disorder is. Severe forms can progress rapidly and without treatment can be life-threatening.", "causes": "Riboflavin transporter deficiency is caused by a variation in one of three genes – SLC52A1 gene (causing riboflavin transporter deficiency type 1), the SLC52A2 gene (riboflavin transporter deficiency type 2), and the SLC52A3 gene (riboflavin transporter deficiency type 3). Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body. The SLC52A1 and SLC52A3 proteins are primarily located in the small intestine while the SLC52A2 protein is located in the brain.", "affected": "Riboflavin transporter deficiency is believed to affect females and males in equal numbers. The exact number of people who have this disorder is unknown. As of November 2017, about 165 affected individuals have been reported in the medical literature or to the Cure RTD Registry. Rare disorders like riboflavin transporter deficiency often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. Researchers believe that these disorders are underdiagnosed; one estimate suggests that at least 1 in 1,000,000 people in the general population have riboflavin transporter deficiency.", "related-disorders": "Symptoms of the following disorders can be similar to those of riboflavin transporter deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of riboflavin transporter deficiency is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Riboflavin transporter deficiency has yet to be detected by newborn screening. A diagnosis is confirmed by molecular genetic testing. Molecular genetic testing can detect disease-causing variations in the genes known to cause these disorders, but is available only as a diagnostic service at specialized laboratories. Because riboflavin transporter deficiency is treatable, prompt diagnosis and early treatment is essential to prevent irreversible neurological damage. Riboflavin supplementation should be given immediately in individuals suspected of having these disorders, even before confirmation through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1447", "name_zh": "环状4号染色体综合征", "Name": "Ring chromosome 4 syndrome", "disease_name": "Ring Chromosome 4", "synonyms": "r(4)", "disease-overview": "Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly, depending on the location of lost genetic material and/or other factors. Some affected infants may have a low birth weight; growth delay; delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation); an abnormally small head (microcephaly); a broad, beaked nose; and/or various additional physical abnormalities that are present at birth (congenital anomalies). However, patients have also been reported in which ring chromosome 4 is primarily associated with growth delay, with no major physical anomalies and normal psychomotor development. Ring chromosome 4 is usually caused by spontaneous (de novo) errors very early in the development of the embryo that appear to occur randomly for unknown reasons (sporadically).", "symptoms": "As noted above, associated symptoms and physical findings may be extremely variable from person to person. Some infants with ring chromosome 4 may have multiple characteristic features, such as a low birth weight, feeding difficulties, failure to grow and gain weight at the expected rate (failure to thrive), developmental delays, malformations of the skull and facial (craniofacial) region, heart defects and/or other physical abnormalities. In addition, certain features may be similar to those seen in individuals with Wolf-Hirschhorn syndrome, which is a chromosomal disorder characterized by partial deletion (monosomy) of the short arm (p) of chromosome 4 (partial monosomy 4p) or features similar to those seen in individuals with partial deletion (monosomy) of the long arm (q) of chromosome 4 (partial monosomy 4q. (For further information on this disorder, please see the Related Disorders section of this report below.) Other people with ring chromosome 4 may have few symptoms and be primarily affected by growth delays (failure to thrive), with no major physical anomalies.", "causes": "In most affected individuals, ring chromosome 4 appears to result from loss (deletion) of genetic material from both ends of the 4th chromosome and a joining of the ends to form a ring. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p, a long arm identified by the letter q and a narrowed region at which the two arms are joined (centromere). Chromosomes are further subdivided into bands that are numbered outward from the centromere. For example, chromosome 4p16 refers to band 16 on the short arm of chromosome 4.", "affected": "Since ring chromosome 4 was originally described, close to 50 cases have been reported in the medical literature. Males and females appear to be affected relatively equally.", "related-disorders": "Symptoms of the following disorders may be similar to those of ring chromosome 4. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Wolf-Hirschhorn syndrome, also known as Wolf syndrome, is a rare chromosomal disorder in which there is partial deletion (monosomy) of the short arm (p) of chromosome 4 (4p). Although the size and location of the 4p deletion vary from person to person, it is believed that deletion of band 4p16.3 is the critical region leading to characteristic features of the disorder. Associated abnormalities typically include a low birth weight, growth delay, poor muscle tone (hypotonia) and delays in the acquisition of skills requiring the coordination of physical and mental activities (psychomotor delay). Most affected infants and children also have distinctive malformations of the skull and facial (craniofacial) region. These may include a small head (microcephaly) and high forehead; highly arched eyebrows; widely spaced eyes (ocular hypertelorism); vertical skin folds that cover the eyes’ inner corners (epicanthal folds); a beaked nose with an abnormally wide nasal bridge; a downturned mouth; an unusually short vertical groove in the middle of the upper lip (philtrum); and/or large, malformed ears. Due to these and/or additional craniofacial malformations, the face may appear relatively dissimilar from one side to the other (craniofacial asymmetry). Additional physical abnormalities may also be present. Such features may include abnormal deviation of one eye in relation to the other (strabismus); partial absence of tissue from the colored region of the eye (iris coloboma); incomplete closure of the roof of the mouth (cleft palate); undescended testes (cryptorchidism) and abnormal placement of the urinary opening on the underside of the penis (hypospadias) in affected males; structural malformations of the heart; sudden episodes of uncontrolled electrical activity in the brain (seizures); skeletal abnormalities; and/or other findings. Wolf-Hirschhorn syndrome usually appears to occur spontaneously (de novo) for unknown reasons very early in embryonic development. Less commonly, it may appear to result from a balanced translocation in one of the parents.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97360", "name_zh": "Robinow综合征", "Name": "Robinow syndrome", "disease_name": "Robinow Syndrome", "synonyms": "acral dysostosis with facial and genital abnormalities", "disease-overview": "Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body. There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated with them. Autosomal recessive Robinow syndrome is more severe and is characterized by shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones that leads to abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; short stature; and distinctive facial features that are sometimes described as fetal facies because the face is similar to the face of a developing fetus. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. Children with autosomal dominant Robinow syndrome have similar but milder features. Spine and rib anomalies are usually not present and short stature is less severe. Some individuals with autosomal dominant Robinow syndrome also have increased bone mineral density (osteosclerosis).", "symptoms": "Autosomal recessive Robinow syndrome is characterized by short stature, characteristic facial features, skeletal abnormalities, and/or genital abnormalities. The range and severity of symptoms vary from person to person.", "causes": "The autosomal recessive and autosomal dominant forms of Robinow syndrome are caused by changes (mutations) in different genes.", "affected": "Autosomal recessive Robinow syndrome has been reported in fewer than 200 people in families from various ethnic backgrounds.", "related-disorders": "Symptoms of the following disorders may be similar to those of Robinow syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Diagnosis of Robinow syndrome is usually made shortly after birth based on physical findings including short stature, limb and genital abnormalities and characteristic facial features. Molecular genetic testing for mutations in the ROR2 gene is available to confirm the diagnosis of autosomal recessive Robinow syndrome.  Molecular genetic testing for mutations in the WNT5A gene and DVL1 gene is available to confirm the diagnosis of autosomal dominant Robinow syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:83311", "name_zh": "落矶山斑疹热", "Name": "Rocky Mountain Spotted Fever", "disease_name": "Rocky Mountain Spotted Fever", "synonyms": "RMSF", "disease-overview": "Rocky Mountain spotted fever (RMSF) is an infectious disease that belongs to a group of diseases known as the spotted fever group rickettsioses. It is caused by infection with the bacterium Rickettsia rickettsii (R. rickettsii), which is usually transmitted by a tick bite. When introduced into the body, the bacterium spreads by the bloodstream or lymphatic vessels and multiplies within and damages certain cells lining the inside of small blood (vascular) vessels (i.e., endothelial cells) as well as vascular smooth muscle cells. Such damage leads to inflammatory changes of affected blood vessels (vasculitis), leakage of fluid from the blood vessels, an abnormal accumulation of fluid in body tissues (edema), and additional abnormalities, resulting in the symptoms and findings associated with the disease.", "symptoms": "Rocky Mountain spotted fever (RMSF) is considered the most potentially severe form of the spotted fevers.  The onset of symptoms typically occurs approximately two to 14 days (with an average of seven days) after having been bitten by a tick carrying the R. rickettsii bacterium. Early symptoms usually include a fever that may reach 103 or 104 degrees Fahrenheit; chills; extreme exhaustion (prostration); muscle pain (myalgia); and severe headaches that are often associated with pain upon moving the eyes and increased sensitivity to light (photophobia).  Many also develop nausea, with or without vomiting, and loss of appetite (anorexia).  Additional early symptoms may include diarrhea, abdominal tenderness, and abdominal pain.  The disease may be difficult to diagnose in early stages since its early symptoms and signs are nonspecific, resembling those associated with many other infectious and non-infectious diseases.", "causes": "The group of infectious diseases known as spotted fevers (i.e., spotted fever group rickettsioses), including Rocky Mountain spotted fever (RMSF), are caused by bacteria belonging to the Rickettsiae family.  RMSF is caused by a bacterium called Rickettsia rickettsii (R. rickettsii), named after its discoverer, Howard T. Ricketts. As noted above, the disease is usually transmitted to humans via a tick bite.  In many cases, the R. rickettsii bacterium is transmitted from infected ticks to their offspring; in other instances, uninfected ticks may become carriers (i.e., vectors) by feeding on infected mammals (e.g., rodents or dogs).", "affected": "Rocky Mountain spotted fever (RMSF) was first described in the late 1800s in Idaho. The disease was initially recognized as existing in only the Rocky Mountain (western) area of the United States. However, beginning in the 1930s, the disease was noted in other regions of the country.  Currently, the frequency of the disease is higher in the west south-central region and the South Atlantic states than in the Rocky Mountain states.  RMSF has been reported in almost every state as well as other countries, including Canada, Mexico, Brazil, Columbia, Costa Rica, and Panama.", "related-disorders": "Symptoms of the following disorders may be similar to those of Rocky Mountain spotted fever (RMSF). Comparisons may be useful for a differential diagnosis:", "diagnosis": "Because its early symptoms and findings may be similar to those associated with many other infectious and non-infectious diseases, Rocky Mountain spotted fever (RMSF) may be difficult to diagnose in its early stages. The classic triad of the disease is fever, rash, and a history of tick bite. However, rash often is not present when affected individuals initially seek medical attention. In addition, as noted above, some do not recall recent tick exposure.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:158014", "name_zh": "Rosa´-Dorfman 疾病", "Name": "Rosai-Dorfman Disease", "disease_name": "Rosai-Dorfman Disease", "synonyms": "RDD", "disease-overview": "Rosai-Dorfman disease is a rare disorder characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical lymphadenopathy). In some cases, abnormal accumulation of histiocytes may occur in other areas of the body besides the lymph nodes (extranodal). These areas include the skin, central nervous system, kidney, and digestive tract. The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected. The disorder predominantly affects children, adolescents or young adults. The exact cause of Rosai-Dorfman disease is unknown.", "symptoms": "The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. Some cases may only affect the lymph nodes and may not cause any serious complications. Less often, some cases may affect various organ systems of the body and may potentially cause serious complications. Any organ system of the body may become affected.", "causes": "The exact cause of Rosai-Dorfman disease is unknown (idiopathic), but it does not seem to be of neoplastic nature. Researchers have suggested that the disorder may be caused by an infectious agent, immunodeficiency, or autoimmunity.", "affected": "Some studies suggest that Rosai-Dorfman disease affects males more often than females. The disorder can affected individuals of any age, but most often affects young adults under the age of 20. Cutaneous Rosai-Dorfman disease occurs more often in females in their 20s or 30s. More than 650 cases have been reported in the medical literature since the disorder’s first description in the medical literature in 1969.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rosai-Dorfman disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of Rosai-Dorfman disease may be confirmed by a thorough clinical evaluation, a detailed patient history and a variety of specialized tests, such as surgical removal and microscopic examination of affected tissue (biopsy).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:65753", "name_zh": "腓骨肌萎缩症1型", "Name": "Charcot-Marie-Tooth disease type 1", "disease_name": "Rosenberg Chutorian Syndrome", "synonyms": "Charcot-Marie-Tooth neuropathy X type 5", "disease-overview": "Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the central nervous system (peripheral neuropathy). The arms and legs are most often affected by peripheral neuropathy. Rosenberg-Chutorian syndrome is inherited as an X-linked disorder with occasional mild symptoms present in the female carrier.", "symptoms": "The symptoms of Rosenberg-Chutorian syndrome often become apparent during infancy or early childhood. The clinical triad of hearing loss, optic atrophy, and peripheral neuropathy characterizes the disorder.", "causes": "Rosenberg-Chutorian syndrome is caused by a mutation in the phosphoribosylpyrophosphate  synthetase I (PRPS1) gene located on the X chromosome.", "affected": "Rosenberg-Chutorian syndrome is a rare genetic disorder that affects males more often than females. Symptoms are more severe in males. Some carrier females may exhibit symptoms of the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rosenberg-Chutorian syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of Rosenberg-Chutorian syndrome is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. Molecular genetic testing for PRSP1 gene mutations is available to confirm the diagnosis. Carrier testing and prenatal diagnosis are available if a PRSP1 gene mutation has been identified in an affected family member.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2909", "name_zh": "Rothmund-Thomson 综合征", "Name": "Rothmund-Thomson syndrome", "disease_name": "Rothmund-Thomson Syndrome", "synonyms": "poikiloderma atrophicans and cataract", "disease-overview": "", "symptoms": "Rothmund-Thomson syndrome is a rare genetic disorder that manifests in early infancy. The range and severity of symptoms may vary from person to person. RTS is typically characterized by skin rash, sparse hair, malformed bones, abnormal clouding of the lenses of the eyes (juvenile cataracts), small stature and other physical abnormalities. Intelligence is usually normal, but some affected individuals have been reported to have intellectual disability.", "causes": "Rothmund-Thompson syndrome is a genetic disorder that is inherited in an autosomal recessive pattern. Approximately 2/3 of individuals with RTS are found to have an abnormality (variant or mutation) in the RECQL4 gene (type 2 RTS) or the ANAPC1 gene (type 1 RTS). The RECQL4 gene is responsible for production of a protein that is involved in the replication and repair of DNA, the genetic material in the cells of the body. ANAPC1 encodes a protein, APC1, which is important for cell cycle progression and also plays a role in DNA replication and repair. Since about 1/3 of affected individuals do not have detectable variants in these genes, other as yet undiscovered genes are probably also associated with RTS.", "affected": "RTS has been diagnosed in people of all races and has been described in multiple nationalities; therefore, it does not appear that there is any particular population at increased risk for developing the disease.", "related-disorders": "The following disorders share some overlapping clinical features with those of RTS. RAPADILINO and Baller-Gerold syndromes are related to RTS because they can also be caused in some cases by variants in the RECQL4 gene. Bloom and Werner syndromes are related to RTS because they are caused by variants in the BLM and WRN genes, respectively, which both belong to the same gene family as RECQL4.", "diagnosis": "Rothmund-Thompson syndrome is diagnosed based on the onset, appearance and progression of the poikilodermatous rash. A diagnosis of RTS may be suspected if the rash is present but atypical and other physical characteristics associated with RTS are present. Molecular genetic testing for the RECQL4 gene is available to confirm the diagnosis, although in one-third of cases of RTS this test can be negative. Thus, a negative test does not rule out the diagnosis of RTS, but a positive test confirms the diagnosis.", "therapies": "The treatment of Rothmund-Thomson syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, physicians who specialize in the diagnosis and treatment of disorders of the skin (dermatologists), doctors who specialize in genetic disorders (geneticists), eye specialists (ophthalmologists), specialists who diagnose and treat bone disorders (orthopedists), dental specialists and/or other health care professionals may need to plan an affected child’s management systematically and comprehensively."}
{"OrphaCode": "ORPHA:3115", "name_zh": "Roussy-LÚvy 综合征", "Name": "Roussy Lévy Syndrome", "disease_name": "Roussy Lévy Syndrome", "synonyms": "Charcot-Marie-Tooth Disease (Variant)", "disease-overview": "Roussy-Lévy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with increased extension of the toes (pes cavus or clawfoot); and tremors of the hands. Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals with Roussy-Lévy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as an autosomal dominant genetic trait.", "symptoms": "Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during childhood and its slowly progressive course. Roussy-Lévy also has as one of its characteristics a slight tremor in the hands.", "causes": "Roussy-Lévy is inherited through autosomal dominant genetic transmission. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed dominating the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.", "affected": "Roussy-Lévy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood.", "related-disorders": "Symptoms of the following disorders can be similar to those of Roussy-Lévy Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Charcot-Marie-Tooth Disease is an hereditary neurological disorder. It is characterized by weakness and atrophy of the legs and disappearance of the fatty shield surrounding the nerves. The most incapacitating initial symptom is foot drop. The disorder has a gradual progression usually beginning in middle childhood through age 30. Symptoms of CMT may arrest spontaneously or it may continue to progress slowly. Patients may remain active for years. (For more information on this disorder, choose Charcot-Marie-Tooth as your search term in the Rare Disease Database.)", "therapies": "Treatment of Roussy-Lévy Syndrome may include use of braces for the foot deformity or orthopedic surgery on the feet to correct the imbalance of the affected muscles. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive."}
{"OrphaCode": "ORPHA:290", "name_zh": "先天性风疹综合征", "Name": "Rubella, Congenital", "disease_name": "Rubella, Congenital", "synonyms": "Congenital German Measles", "disease-overview": "Congenital rubella is a syndrome that occurs when a fetus has been infected with the rubella virus while in the uterus. It is primarily characterized by abnormalities of the heart and nervous system, the eyes and the ears. The fetus is most vulnerable to the virus during the first three months of pregnancy, although pregnant women are advised to avoid exposure to rubella virus at all times. Women who contract rubella during pregnancy have a high risk of having a baby with congenital rubella.", "symptoms": "Classic congenital rubella syndrome symptoms include a combination of heart, eye and hearing defects, although infection and damage can occur in almost every organ system.  Of the abnormalities most likely to be present at birth, cardiovascular defects are most common, such as underdevelopment (hypoplasia) of the pulmonary artery and the failure of a duct connecting the pulmonary artery and aorta (patent ductus arteriosus) to close.", "causes": "Congenital rubella can affect a fetus when a pregnant woman who is not immune to the virus contracts rubella (German Measles).  The baby may also be affected if the mother contracts rubella immediately before conception.  The fetus is most vulnerable during the first three months (first trimester) of a pregnancy.", "affected": "Congenital rubella is found in newborns and infants of mothers who were infected with rubella immediately before or during the early months of pregnancy.  The frequency of congenital rubella thus depends upon the number of women of childbearing age who are susceptible to the virus, and the frequency of rubella infection in the community.  Before the development of rubella virus vaccine, epidemics of rubella and congenital rubella occurred about every six to nine years.  During epidemic years, congenital rubella infection was found (using serologic testing to identify nonsymptomatic cases) in as many as 2% of newborns; the rate of its presence at other times (the endemic rate) is 0.1%.  Widespread use of rubella vaccine in the United States has eliminated epidemics, but the endemic rate of congenital infection appears to be about the same.", "related-disorders": "", "diagnosis": "", "therapies": "There is no treatment for maternal rubella or congenital rubella syndrome. Therefore, prevention assumes paramount importance. It is most important to immunize all children, in an attempt to prevent epidemics. Children should receive rubella immunization at 15 months of age, along with mumps and measles in a combined vaccine. Many authorities now recommend that a repeat rubella immunization be given to 10-year-olds, because vaccine-induced immunity may not persist as long as naturally acquired immunity."}
{"OrphaCode": "ORPHA:290", "name_zh": "先天性风疹综合征", "Name": "Rubella", "disease_name": "Rubella", "synonyms": "German Measles", "disease-overview": "Rubella is a viral infection characterized by fever, headache, swollen lymph nodes, aching joints, and a distinctive red rash. Although it is sometimes called German measles or three-day measles, it is not caused by the same virus that causes measles. Rubella is generally mild in children and more severe but not life-threatening in adults. However, if a pregnant woman is infected with rubella, it can cause serious problems for the unborn child. In the United States, most children receive the measles-mumps-rubella (MMR) vaccine, and therefore the disease has become uncommon. In March 2005, health officials announced that rubella has been eliminated from the United States. However, it is still important for Americans to vaccinate their children, and women who are pregnant or might get pregnant still need to be sure they are immune, because the disease exists elsewhere. According to the Centers for Disease Control and Prevention (CDC), nine rubella cases were reported in the United States in 2004, and all of them originated in other countries.", "symptoms": "Rubella is predominantly a childhood disease, although it also occurs among adolescents and adults.  It has a 14- to 21-day incubation period and a 1- to 5-day preliminary phase in children.  The preliminary phase may be minimal or absent in adolescents and adults.  Tender swelling of the glands in the back of the head, the neck and behind the ears is characteristic.  The typical rash appears days after onset of these symptoms.", "causes": "Rubella is caused by a virus and is spread by airborne droplet clusters or by close contact with an infected person.  A patient can transmit the disease from 1 week before onset of the rash until 1 week after it fades.  Congenitally infected infants are potentially infectious for a few months after birth.  Rubella is apparently less contagious than measles, and many persons are not infected during childhood.  As a result, 10% to 15% of young adult women are susceptible if they have not been vaccinated against the disorder.  Many cases are misdiagnosed or go unnoticed.", "affected": "Rubella affects males and females in equal numbers.  During 1964 and 1965, according to the CDC, a rubella epidemic in the United States caused an estimated 12.5 million cases of rubella and 20,000 cases of congenital rubella syndrome, which led to more than 11,600 babies born deaf, 11,250 fetal deaths, 2,100 neonatal deaths, 3,580 babies born blind, and 1,800 babies born mentally retarded.  Since 1969, the rubella virus has been included in the measles, mumps, and rubella (MMR) vaccine routinely given to babies and young children.", "related-disorders": "Symptoms of the following disorders can be similar to those of rubella. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Allergic contact dermatitis is an itchy skin condition caused by an allergic reaction to material in contact with the skin.  It arises some hours after the skin has come into contact with the responsible substance, and gradually goes away over a period of days.  Contact allergy usually is the result of the allergen on the skin rather than from internal sources or food. The first contact usually does not result in allergy; often the person has been able to touch the material for many years without adverse reaction.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:783", "name_zh": "Rubinstein-Taybi综合征", "Name": "Rubinstein-Taybi syndrome", "disease_name": "Rubinstein-Taybi Syndrome", "synonyms": "RSTS", "disease-overview": "Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder that affects many organ systems. RSTS is characterized by growth delays, distinctive facial features, intellectual disability (with an average IQ of 25-79), broad and often angulated thumbs and great toes (halluces) and feeding difficulties (dysphagia). Craniofacial features of RSTS include downward slanted eyes (down slanted palpebral fissures), long eyelashes, high-arched eyebrows, low-hanging nasal septum (columella), high palate and an extra cusp on the lingual side of a front tooth (talon cusps). In most affected children, RSTS occurs as the result of a new (de novo) gene variant (mutation), although rarely, the syndrome has been inherited from an affected parent in an autosomal dominant pattern. Management generally involves monitoring of growth and feeding, yearly eye and hearing evaluations, and evaluation for cardiac, dental, and renal abnormalities. Behavioral therapy and special education are also indicated.", "symptoms": "General", "causes": "In most affected children, RSTS occurs as the result of a new (de novo) genetic mutation that is not present in or carried by the parents. In these cases, the risk of having a second affected child is less than 1%.", "affected": "RSTS is a rare disorder that affects males and females in equal numbers. The exact incidence of RSTS is unknown, although a study in the Netherlands estimates the incidence to be between 1/100,000 to 1/125,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of Rubinstein-Taybi syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Saethre-Chotzen syndrome: For more information on this disorder, choose Saethre Chotzen as your search term in the Rare Disease Database.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:813", "name_zh": "Silver-Russell综合征", "Name": "Russell-Silver Syndrome", "disease_name": "Russell-Silver Syndrome", "synonyms": "RSS", "disease-overview": "", "symptoms": "The symptoms of RSS vary greatly from one individual to another. Some are mildly affected; others may have serious complications. The wide range of potential features can affect many different parts of the body. It is important to note that affected individuals will not have all of the symptoms discussed below. Affected individuals/ parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. With appropriate medical care, most individuals with RSS will live full, productive lives.", "causes": "In the last few years it has become possible to confirm the clinical diagnosis by genetic testing in approximately 60% of individuals with RSS. Two main genetic changes (involving chromosome 7 and chromosome 11) are currently known to cause RSS. These are specific to the condition and not seen in most children with IUGR and poor postnatal growth.", "affected": "RSS occurs in all populations and affects males and females in equal numbers. In the past, many infants with IUGR and relatively large head circumference were incorrectly diagnosed with RSS. Because of the difficulty in diagnosis, other cases may go unrecognized and undiagnosed or misdiagnosed, making it difficult to determine the true frequency of the disorder in the general population. Recent data suggests that around 1 in 15,000 children will have RSS.", "related-disorders": "Poor growth prior to birth (IUGR) is a feature of many different congenital disorders. Although some of these disorders may have signs and symptoms that are similar to RSS, they usually have other physical features that help differentiate them. For example, relative microcephaly (head size smaller than expected for height and weight) is almost never seen in RSS. Alternative diagnoses should also be considered if there is global developmental delay or significant intellectual disability, no history of feeding difficulties, distinctive facial features (different from those described in RSS), additional congenital anomalies or other features atypical for RSS. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of RSS is based on clinical findings. Because many of the symptoms are nonspecific, making a diagnosis of RSS remains difficult. Consensus guidelines for investigation and diagnosis of RSS have recently been published, based on the Netchine-Harbison clinical scoring system for RSS: https://www.nature.com/nrendo/journal/v13/n2/full/nrendo.2016.138.html", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:494421", "name_zh": "骶尾部畸胎瘤", "Name": "Sacrococcygeal Teratoma", "disease_name": "Sacrococcygeal Teratoma", "synonyms": "", "disease-overview": "Sacrococcygeal teratomas are rare tumors that develop at the base of the spine by the tailbone (coccyx) known as the sacrococcygeal region. Although most of these tumors are non-cancerous (benign), they may grow quite large and once diagnosed, always require surgical removal. It is likely that all sacrococcygeal teratomas are present at birth (congenital) and most are discovered before birth by a routine prenatal ultrasound examination or an exam indicated for a uterus too large for dates. In rare cases, sacrococcygeal teratomas may be cancerous (malignant) at birth and many will become malignant if surgical resection is not performed. In extremely rare cases, sacrococcygeal tumors may be seen in adults. Most of these represent slow growing tumors that originated prenatally. In the majority of these cases, the tumor is benign, but may cause lower back pain and genitourinary and gastrointestinal symptoms. The cause of sacrococcygeal teratomas is unknown.", "symptoms": "The symptoms that occur with sacrococcygeal teratomas vary widely depending upon the size and specific location of the tumor. Small tumors often do not cause any symptoms (asymptomatic) and can usually be removed surgically after birth without difficulty.", "causes": "The cause of sacrococcygeal teratomas is unknown. Sacrococcygeal teratomas are germ cell tumors. Germ cells are the cells that develop into the embryo and later on become the cells that make up the reproductive system of men and women. Most germ cell tumors occur in the testes or ovaries (gonads) or the lower back. When these tumors occur outside of the gonads, they are known as extragonadal tumors. Researchers do not know how extragonadal germ cell tumors form. One theory suggests that germ cells accidentally migrate during to unusual locations early during the development of the embryo (embryogenesis). Normally, such misplaced germ cells degenerate and die, but in cases of extragonadal teratomas researchers speculate that these cells continue to undergo mitosis, the process where cells divide and multiply, eventually forming a teratoma.", "affected": "Sacrococcygeal teratomas occur in females more often than males by a 4:1 ratio. Malignancy is more common in males. The prevalence of these tumors is estimated to be between 1 in 30,000-70,000 live births. Sacrococcygeal teratomas are the most common solid tumor found in newborn babies (neonates). The sacrococcygeal region is the most common site for a teratoma in infants. Sacrococcygeal teratomas affecting adults is extremely rare. Adults cases often represent tumors that were present at birth (congenital), but not detected until adulthood.", "related-disorders": "Symptoms of the following disorders can be similar to those of sacrococcygeal teratomas. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In most cases, sacrococcygeal teratomas are diagnosed at birth when a large tumor is detected protruding from the sacral region. Many sacrococcygeal teratomas are found incidentally on routine prenatal ultrasounds or they may be detected on an ultrasound that is obtained because the uterus is too large for the stage of pregnancy due to the bulk of the tumor, or accumulation of amniotic fluid. During an ultrasound, reflected sound waves create an image of the developing fetus. Even small sacrococcygeal teratomas may be visible on an ultrasound picture.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:794", "name_zh": "Saethre-Chotzen综合征", "Name": "Saethre-Chotzen syndrome", "disease_name": "Saethre Chotzen Syndrome", "synonyms": "acrocephalosyndactyly type III", "disease-overview": "Saethre Chotzen syndrome (SCS) belongs to a group of rare genetic disorders known as acrocephalosyndactyly disorders. All of these are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits).", "symptoms": "SCS is primarily characterized by premature closure of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis), distinctive facial variations, and/or variations of the fingers and toes (digits). However, associated symptoms and findings may be extremely variable, including among affected members of the same family. For example, there have been reports in which some family members have had characteristic digital abnormalities alone, whereas others have been primarily affected by craniosynostosis.", "causes": "In most individuals, SCS is caused by mutations in the TWIST1 gene. The TWIST1 gene has been mapped to the short arm (p) of chromosome 7 (7p21). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered. For example, 7p21 refers to band 21 on the short arm of chromosome 7.", "affected": "SCS affects males and females in equal numbers. Due to its variability including that manifestations can be mild, SCS may often go unrecognized. Therefore, it is difficult to determine the true frequency of the disorder in the general population.", "related-disorders": "The findings in the following disorders may be similar to those of Saethre-Chotzen syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of SCS is primarily based on physical signs and symptoms. Molecular genetic testing for mutations in the TWIST1 gene can be identified in some, but not all, individuals.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79256", "name_zh": "GM1神经节苷脂贮积病2型", "Name": "GM1 gangliosidosis type 2", "disease_name": "Sandhoff Disease", "synonyms": "GM2 gangliosidosis, type 2", "disease-overview": "", "symptoms": "Infantile Sandhoff Disease", "causes": "Sandhoff disease is caused by harmful mutations in a gene called HEXB. These gene mutations cause decreased amounts of two important enzymes: beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are found in the recycling centers (lysosomes) of the cell and their job is to break down fatty substances called GM2 gangliosides and globosides. The symptoms of Sandhoff disease happen because these fats (lipids) accumulate in harmful amounts in the brain and nerve cells. This damages the brain and spinal cord (central nervous system).", "affected": "Sandhoff disease is a rare disorder that is estimated to affect 1 in 1,000,000 individuals. It affects males and females in equal numbers. Sandhoff disease occurs in multiple populations but may be most common in the Creole population of Argentina, Metis citizens of Saskatchewan, Canada and people with Lebanese ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of Sandhoff disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Sandhoff disease is commonly diagnosed by testing the activity of the beta-hexosaminidase A and beta-hexosaminidase B enzymes (enzyme assays). People with Sandoff disease have reduced or absent activity of both enzymes. Genetic testing is used to confirm the diagnosis.", "therapies": "There is currently no cure for Sandhoff disease. Management is based on the symptoms and is mostly supportive. Supportive treatment includes ensuring proper nutrition and hydration, keeping the airway open, and seizure control with anticonvulsants."}
{"OrphaCode": "ORPHA:1830", "name_zh": "Schimke免疫性骨发育不良", "Name": "Schimke immuno-osseous dysplasia", "disease_name": "Schimke Immuno-Osseous Dysplasia", "synonyms": "immunoosseous dysplasia, Schimke type", "disease-overview": "Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder that is inherited in an autosomal recessive pattern. It usually manifests first with growth failure. Other features of the disease are generally noted in the ensuing evaluation of the growth failure or develop in the following years. According to the severity of the clinical features and the age of onset, SIOD has been divided into an infantile or severe early-onset form and a juvenile or milder late-onset form. Affected individuals with early-onset manifest severe symptoms and have a mean age of death at 9.2 years. These individuals have died from strokes, severe opportunistic infections, bone marrow failure, complications of kidney failure, congestive heart failure, and unspecified lung disease. On the other hand, those with milder disease have survived into the fifth decade if symptomatically treated. However, severity and age of onset of symptoms do not invariably predict survival as a few of those with early-onset disease have survived into the third and fourth decade.", "symptoms": "The multiple symptoms of SIOD and the relative frequency of them are listed in the table. The symptoms are subsequently discussed according to the organ system affected.", "causes": "SIOD is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.", "affected": "SIOD is panethnic with an unknown prevalence. As deduced from referrals and published birth rates, the incidence is approximately 1 per million live births in North America.", "related-disorders": "", "diagnosis": "The diagnosis of SIOD is made on clinical findings. The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency (particularly for naïve CD4 and CD8 T cells), dysmorphic facial features, and hyperpigmented macules. Anthropometry can help to distinguish SIOD from other forms of chronic kidney disease: a sitting height: leg length ratio of < 0.83 is consistent with a diagnosis of SIOD whereas a ratio of > 1.01 is indicative of non-SIOD chronic kidney disease. DNA testing for mutations in the SMARCAL1 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3137", "name_zh": "α-N-乙酰半乳糖胺酶缺乏症", "Name": "Alpha-N-acetylgalactosaminidase deficiency", "disease_name": "Schindler disease", "synonyms": "Alpha-N-Acetylgalactosaminidase deficiency", "disease-overview": "Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of certain complex compounds (glycosphingolipids, glycoproteins, and oligosaccharides), which have terminal or preterminal N-acetylgalactosaminyl residues in many tissues of the body and in urine. Two major forms of Schindler disease exist – a severe form with onset in infancy (type I) and a milder form with onset in adulthood (type II). Some researchers have proposed a type III form of Schindler disease that is less severe than type I, but more severe than type II. The specific symptoms and severity of Schindler disease can vary from one person to another. Schindler disease is caused by mutations of the NAGA gene and is inherited as an autosomal recessive trait.", "symptoms": "Some researchers have broken Schindler disease into three distinct types. Type I is a severe form that occurs during infancy and is associated with neurological symptoms. Type II is a milder form of the disorder with onset usually in adulthood and mild, if any associated neurological symptoms. Type III is an intermediate form whose onset and severity fall in between the other two. Consequently, the severity and specific symptoms of Schindler disease can vary greatly from patients in one family to those in another.", "causes": "Schindler disease is caused by mutations in the NAGA gene. These mutations are inherited as autosomal recessive traits. Genetic diseases are determined by the combination of mutations for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits an abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. The risk to have a child who is a carrier like the parents is 50 percent with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25 percent. The risk is the same for males and females.", "affected": "Schindler disease affects males and females in equal numbers. The exact incidence of Schindler disease in the general population is unknown. Because cases of Schindler disease may go unrecognized or misdiagnosed, determining the disorder’s true frequency in the general population is difficult. As a group, lysosomal storage diseases are infrequent, although certain disorders may occur in specific ethnic or demographic groups at higher frequencies, about one in every 1,000-2,000 live births for Gaucher and Fabry diseases, or very infrequently (1 in 100,000 to 200,000 live births) for most of these disorders, which may be the case for alpha-N-acetylgalactosaminidase deficiency. Schindler disease was first reported in the medical literature in the late 1980s.", "related-disorders": "Symptoms of the following disorders can be similar to those of Schindler disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Schindler disease may be diagnosed after birth (postnatally) by a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. Urinary analysis (e.g., oligosaccharide and glycopeptide profiles) may reveal increased levels of certain complex compounds in the urine (e.g., oligosacchariduria and glycopeptiduria). Reduced activity of the alpha-NAGA enzyme may be confirmed by conducting enzyme tests (assays) on cultured white blood cells (leukocytes), blood plasma, and/or certain skin cells (fibroblasts) from affected individuals.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:798", "name_zh": "Schinzel-Giedion综合征", "Name": "Schinzel-Giedion syndrome", "disease_name": "Schinzel Giedion Syndrome", "synonyms": "Schinzel-Giedion midface-retraction syndrome", "disease-overview": "Schinzel Giedion syndrome (SGS) is a very rare genetic disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis). Symptoms characteristic of SGS also include excessive hair-growth (hypertrichosis), a flat midface (midface retraction), seizures, clubfeet, broad ribs, profound intellectual disability and short arms and legs. SGS is caused by a new mutation in the SETBP1 gene that is not inherited from the parents. SGS is a severe progressive syndrome and most affected individuals do not survive infancy.", "symptoms": "Schinzel Giedion syndrome is characterized by an unusual facial appearance as well as abnormalities of the skeleton, kidney, hair and brain. Individuals with this disorder have an obstruction of the tube that carries urine from the kidney into the bladder (ureter). This causes the kidney to become swollen as urine accumulates (hydronephrosis).", "causes": "Schinzel Giedion syndrome is caused by a new spontaneous mutation of the SETBP1 gene. The disorder is not inherited from the parents. The SETBP1 gene is a cancer promoting gene, and affected children who survive past three years of age are at risk for different types of cancer.", "affected": "Schinzel Giedion syndrome is a very rare disorder that affects males and females in equal numbers. The birth prevalence is unknown.  There have been 50 cases reported worldwide.", "related-disorders": "Symptoms of the following disorders can be similar to those of Schinzel- Giedion syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mucopolysaccharidosis (MPS) is a group of hereditary disorders of lysosomal storage. These diseases are characterized by an abnormal accumulation of mucopolysaccharides, especially in the cartilage and bone tissue. Symptoms of this disorder may include: abnormally slow growth and intellectual disability; vision and hearing problems; stiff joints; an excess of hair; dwarfism; and/or heart and breathing problems. (For more information on this disorder, choose Mucopolysaccharidosis as your search term in the Rare Disease Database.)", "therapies": "SGS is a severe progressive syndrome and most affected individuals do not survive infancy. However, one child has been reported to live until 6 years of age and another to still be living at 15 years of age."}
{"OrphaCode": "ORPHA:3138", "name_zh": "尺骨-乳腺综合征", "Name": "Ulnar-mammary syndrome", "disease_name": "Schinzel Syndrome", "synonyms": "Pallister ulnar-mammary syndrome", "disease-overview": "Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities affecting the hands and/or forearms range from underdevelopment of the bone in the tip of the fifth finger (hypoplastic terminal phalanx) to underdevelopment or complete absence of the bone on the outer aspect of the forearm (ulna).", "symptoms": "Schinzel syndrome, also known as ulnar-mammary syndrome (UMS), is an extremely rare inherited disorder characterized by abnormalities affecting the bones of the hands and forearms and/or underdevelopment (hypoplasia) and dysfunction of certain sweat glands (apocrine) and/or the breasts (mammary glands).  The physical features and symptoms associated with Schinzel syndrome vary greatly from case to case.", "causes": "Schinzel syndrome is inherited as an autosomal dominant genetic trait.  It occurs as a result of an abnormality in a gene on the long arm of chromosome 12 (12q24.1).", "affected": "Schinzel syndrome is a very rare disorder that affects males and females in equal numbers.  Between 50 and 75 cases have been reported in the medical literature.  Of these, about 33 cases involve individuals within one family (kindred) from Utah.  The syndrome has been described in Asians, Africans, and Europeans.", "related-disorders": "Symptoms of the following disorder may be similar to those of Schinzel syndrome.  A comparison may be useful for differential diagnosis:", "diagnosis": "In some cases, a diagnosis of Schinzel syndrome may be made at birth based upon a thorough clinical evaluation, the identification of characteristic physical findings, and specialized imaging techniques. Such imaging studies may be conducted to confirm and/or characterize bone abnormalities affecting the fingers, hands, wrists, and/or arms; certain genital abnormalities (e.g., bicornate uterus in females, cryptorchidism in males); and/or other malformations (e.g., pyloric stenosis, inguinal hernia). Specialized tests may also be conducted to detect and verify dysfunction of certain sweat (apocrine) glands and/or the mammary glands in affected females. In addition, in some cases, additional testing may be conducted (e.g., echocardiograms, electrocardiograms, cardiac catheterization, specialized x-ray studies, etc.) to detect the presence of and/or characterize ventricular septal defects, which have been reported in one family with the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:37748", "name_zh": "Schnitzler综合征", "Name": "Schnitzler syndrome", "disease_name": "Schnitzler Syndrome", "synonyms": "Schnitzler's syndrome", "disease-overview": "Schnitzler syndrome is a rare disorder characterized by a chronic reddish rash that resembles hives (urticaria) and elevated levels of a specific protein in the blood (monoclonal IgM gammopathy). Symptoms associated with Schnitzler syndrome may include repeated bouts of fever, joint inflammation (arthritis), joint pain (arthralgia), bone pain, and other findings such as enlarged lymph nodes (lymphadenopathy). A monoclonal IgM gammopathy refers to the uncontrolled growth of a single clone (monoclonal) of plasma cells, which results in the abnormal accumulation of M-proteins (also known as immunoglobulin M or IgM) in the blood. However, the specific role these proteins play and the exact cause of Schnitzler syndrome is unknown. Schnitzler syndrome is difficult to classify and some researchers have suggested that it is an acquired autoinflammatory syndrome. Autoinflammatory syndromes are a group of disorders characterized by recurrent episodes of inflammation due to an abnormality of the innate immune system. They are not the same as autoimmune disorders, in which the adaptive immune system malfunctions and mistakenly attacks healthy tissue.", "symptoms": "The symptoms associated with Schnitzler syndrome can vary from one person to another. The symptoms can occur all at once or, because they often come and go, the symptoms can occur at different times. The symptoms tend to persist for many years (chronic disease).", "causes": "The exact cause of Schnitzler syndrome is unknown. Researchers believe that specific parts of the immune system may not function properly, eventually causing Schnitzler syndrome.", "affected": "Schnitzler syndrome affects males slightly more often than females. However, only approximately 160 cases of this rare disorder have been reported in the medical literature so no definitive conclusions can be made about ethnic or gender predispositions. Because of the varied symptoms and rarity of Schnitzler syndrome, a diagnosis is usually delayed by several years and researchers believe that the disorder is underdiagnosed, making it difficult to determine its true frequency in the general population. Most individuals with Schnitzler syndrome are in their 50s when the characteristic symptoms develop.", "related-disorders": "Symptoms of the following disorders can be similar to those of Schnitzler syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Schnitzler syndrome is based upon a thorough clinical evaluation, a detailed patient history, exclusion of other disorders, and identification of characteristic findings, specifically a urticarial rash, an M protein and at least two of the following findings – fever, joint pain or inflammation, bone pain, palpable lymph nodes, enlargement of the liver or spleen, elevated numbers of white blood cells (leukocytosis), elevated red blood cell (erythrocyte) sedimentation rate or abnormalities on bone morphological study, which can reveal increased bone density (osteosclerosis).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:800", "name_zh": "Schwartz-Jampel综合征", "Name": "Schwartz-Jampel syndrome", "disease_name": "Schwartz Jampel Syndrome", "synonyms": "chondrodystrophic myotonia", "disease-overview": "Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from person to person. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)", "symptoms": "SJS is primarily characterized by abnormalities of skeletal muscle, bone, and cartilage; malformations of the eyes and the face; and growth delays. In some cases, additional abnormalities may also be present. The range and severity of associated symptoms and physical findings varies from person to person, depending upon the form of the disorder present and other factors. Two forms of the disorder have been recognized, which are known as SJS types 1 and 2. SJS type 1, which is considered the classical form of the disorder, may be recognized during early to late infancy or childhood, whereas SJS type 2 is apparent at birth (congenital).", "causes": "SJS types 1 and 2 are both thought to have autosomal recessive inheritance. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "SJS (SJS) types 1 and 2 are rare disorders that appear to affect males and females in equal numbers. More than 85 cases have been reported in the medical literature, including individuals affected by the classical (type 1) and the more severe neonatal form (type 2) of the disorder. SJS type 2 appears to be most common in individuals of United Arab Emirates descent. Depending upon the form of the disorder present, associated symptoms and findings may be recognized at birth or may become apparent during infancy or within the second year of life.", "related-disorders": "Symptoms of the following disorders may be similar to those of SJS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Stuve-Wiedemann syndrome is a rare skeletal disorder present at birth (congenital). It is characterized by short stature, bowing of the long bones of the arms and legs (campomelia), and fingers or toes that are permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). Affected infants may develop life-threatening complications such as episodes where there is a sudden rise in body temperature (hyperthermia) or respiratory distress. Stuve-Wiedemann syndrome is inherited as an autosomal recessive trait. Some researchers believe that Stuve-Wiedemann syndrome and SJS type II are the same disorder. SJS was previously believed to be the newborn (neonatal) form of SJS. However, the clinical and radiographic pictures of Stuve-Wiedemann and SJS type II are nearly identical leading many researchers to believe the two disorders are a single entity. (For more information on this disorder, choose Stuve-Wiedemann as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:801", "name_zh": "硬皮病", "Name": "Scleroderma", "disease_name": "Scleroderma", "synonyms": "", "disease-overview": "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal thickening of the skin. Connective tissue is composed of collagen, which supports and binds other body tissues. There are several types of scleroderma. Some types affect certain, specific parts of the body, while other types can affect the whole body and internal organs (systemic). Scleroderma is also known as progressive systemic sclerosis. The exact cause of scleroderma is unknown.", "symptoms": "The early symptoms of scleroderma vary considerably. Distinctive abnormalities on the skin (cutaneous lesions) usually appear later in the course of the disease. Common symptoms of scleroderma may include painful joints (arthralgia), morning stiffness, fatigue, and/or weight loss. The intermittent loss (triggered by cold temperatures) of blood supply to the fingers, toes, nose, and/or ears (Raynaud’s phenomenon) is an early and frequent complaint of people with scleroderma.", "causes": "The exact cause of scleroderma is unknown. The immune system and vascular system as well as connective tissue metabolism are known to play some role in the disease process. Researchers believe that several factors interact to produce scleroderma. These include abnormal immune activity, potential environmental triggers, and genetic makeup. Scleroderma is not thought to be passed on from parent to child, but it is believed that the presence of certain genes may make it more likely that a person will develop the disease (genetic predisposition).", "affected": "The systemic form of scleroderma is thought to affect from 40,000 to 165,000 people in the United States. The disease is three to four times more common in females than in males. Scleroderma may occur at any age but the symptoms most frequently begin during midlife.", "related-disorders": "Symptoms of the following disorders can be similar to those of scleroderma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mixed connective tissue disease (MCTD) is a rare inflammatory disorder of the connective tissue.  The symptoms of this disorder overlap with those of lupus (systemic lupus erythematosus), scleroderma, and polymyositis/dermatomyositis.  Early symptoms may include a fever of unknown origin, painfully cold fingers in response to cold (Raynaud’s phenomenon), swollen hands, fatigue, and/or non-deforming arthritis.  Arthritis occurs in almost every case of mixed connective tissue disease, but rarely results in deformities similar to those seen in rheumatoid arthritis.  People with mixed connective tissue disease commonly experience muscle pain and skin rashes. (For more information on this disorder, choose Mixed Connective Tissue Disease as your search term in the Rare Disease Database.)", "therapies": "Treatment of scleroderma is symptomatic and supportive. Medications used to control the hardening of the skin and internal organs (fibrosis) are D- penicillamine and cholchicine. Other skin care may include lubricating creams or antibiotic ointments for infected ulcerations."}
{"OrphaCode": "ORPHA:1514", "name_zh": "颅-指-智力障碍综合征", "Name": "Craniodigital-intellectual disability syndrome", "disease_name": "Scott Craniodigital Syndrome", "synonyms": "Craniodigital Syndrome-Mental Retardation, Scott Type", "disease-overview": "Scott craniodigital syndrome is a condition that has only been found in two families. The manifestations include unusual head shape, growth and developmental delay, and mild webbing between the fingers and toes (syndactyly)", "symptoms": "Individuals with Scott craniodigital syndrome have a combination of mental and growth retardation, minor craniofacial anomalies, and mild webbing between the fingers and toes.  Birth weight and length are typically within normal limits, but subsequent growth retardation occurs.", "causes": "Scott craniodigital syndrome is believed to be inherited as an X-linked recessive genetic trait, based on the presence of the condition in males only.  Carrier females have very mild manifestations.  Only two families have been described with the condition, so the true gene frequency is unknown.", "affected": "Scott Craniodigital Syndrome With Mental Retardation is an extremely rare inherited disorder that is fully expressed in males only.  However, females who carry a single copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder.  The disorder has been reported in two separate families (kindreds) in the medical literature.  Most of the symptoms are apparent at birth.", "related-disorders": "Chitayat syndrome refers to a birth defect that combines unusual facial features in association with a malformation of the intestine.  The head may broad and short with a high forehead and heavy bones over the eyes, which are abnormally widely spaced (telecanthus).", "diagnosis": "", "therapies": "Scott Craniodigital Syndrome With Mental Retardation may be diagnosed at birth, based upon a thorough clinical evaluation and identification of characteristic physical findings."}
{"OrphaCode": "ORPHA:808", "name_zh": "Seckel综合征", "Name": "Seckel Syndrome", "disease_name": "Seckel Syndrome", "synonyms": "microcephalic primordial dwarfism", "disease-overview": "Seckel syndrome is rare genetic condition with slow growth before birth (intrauterine growth restriction) resulting in low birth weight. Slow growth continues after birth (postnatal), causing short height (dwarfism). Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability. Possible facial features are a sloping forehead and beak-like nose. Other features may include large eyes, a narrow face, ears of a different shape and/or a small jaw (micrognathia). In addition, some affected infants may have curving of the pinkie finger (clinodactyly) or unusual development of the hips (hip dysplasia). They may also have dislocation of a bone in the forearm (radial dislocation) and/or other physical features.", "symptoms": "Seckel syndrome presents with slow growth during fetal development (intrauterine growth restriction). This results in low birth weight. Slow growth (growth retardation and delayed bone maturation) continues after birth (postnatal). This can lead to short height (dwarfism) with arms and legs that are proportionate to height. (This is different than short height with small arms and legs). Moderate to severe intellectual disability may", "causes": "Seckel syndrome is rare genetic disorder that is inherited in an autosomal recessive pattern. There are multiple types of Seckel syndrome caused by harmful changes in genes (mutations) on multiple chromosomes. The types and gene names are:", "affected": "Seckel syndrome is a rare genetic disorder that affects males and females in equal numbers. About 1 in 10,000 individuals have Seckel syndrome.", "related-disorders": "Symptoms of the following conditions can be similar to those of Seckel syndrome. Comparisons may be useful to make the correct diagnosis:", "diagnosis": "Seckel syndrome is one of six disorders in the class of dwarfism known as the primordial dwarfism. These disorders share similar features. They include skeletal differences (dysplasia) and slow growth before birth (intrauterine growth retardation) and after. This results in varying levels of short height. This group of conditions currently includes five major subtypes: Seckel syndrome, ear-patella-short stature (Meier-Gorlin) syndrome; Russell-Silver syndrome; osteodysplastic primordial dwarfism type I/III; osteodysplastic primordial dwarfism type II.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98808", "name_zh": "常染色体显性遗传多巴反应性肌张力障碍", "Name": "Autosomal dominant dopa-responsive dystonia", "disease_name": "Segawa Syndrome", "synonyms": "autosomal dominant dopa-responsive dystonia (DRD", "disease-overview": "Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia. Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). Dystonia in Segawa syndrome usually affects the legs, but some children may first develop dystonia in the arms. In some cases, usually in adolescents and adults, the symptoms of Segawa syndrome may become noticeably worse or more pronounced in the afternoon and evening than in the morning (marked diurnal fluctuation). The symptoms of Segawa syndrome usually become apparent by around six years of age. Intelligence is not affected. Children with Segawa syndrome usually show a dramatic and sustained improvement when treated with levodopa. Levodopa is an amino acid that is converted to dopamine, a brain chemical that serves as a neurotransmitter. Dopamine is deficient in children with Segawa syndrome. The disorder is caused by mutations of the GCH-1 gene. The GCH-1 gene mutation is inherited as an autosomal dominant trait.", "symptoms": "The symptoms and severity of Segawa syndrome can vary greatly from one person to another, even among members of the same family. Symptoms usually become apparent by around six years of age. In some cases, symptoms may not become apparent until later in childhood or even as late as adulthood.", "causes": "Segawa syndrome is caused by mutations of the guanosine triphosphate cyclohydrolase I (GCH-1) gene. The GCH-1 gene mutation is inherited as an autosomal dominant trait or occurs as a spontaneous genetic change (i.e., new mutation) that occurs sporadically for no apparent reason.", "affected": "Segawa syndrome affects girls and women more often than boys and men. In sporadic cases (i.e., new mutations), women are affected four times more often than men. Women are also more likely to have severe symptoms than men are. The exact incidence of Segawa syndrome in the general population is unknown. Researchers believe that the disorder is often misdiagnosed or goes undiagnosed, making it difficult to determine its true frequency in the general population. Segawa syndrome and tyrosine hydroxylase deficiency, which is also known as autosomal recessive dopa-responsive dystonia, account for approximately 5-10 percent of all cases of primary dystonia in childhood. Segawa syndrome was first described in the medical literature in 1971. It was originally called hereditary progressive dystonia with marked diurnal fluctuation.", "related-disorders": "Symptoms of the following disorders can be similar to those of Segawa syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Segawa syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings, and a response to therapy with low doses of levodopa. An examination of cerebrospinal fluid (CSF) can detect certain substances that are byproducts of metabolism (metabolites) specifically pterins. Identification of reduced levels of pterins in CSF can help to confirm a diagnosis of Segawa syndrome and distinguish the disorder from related neurotransmitter disorders. A sample of CSF is obtained through a procedure called a spinal tap (lumbar puncture), in which a needle is inserted into the spinal canal in the lower back.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3156", "name_zh": "Senior-Loken综合征", "Name": "Senior-Løken Syndrome", "disease_name": "Senior-Løken Syndrome", "synonyms": "juvenile nephronophthisis with leber amaurosis", "disease-overview": "Senior-Løken syndrome (SLS) is a rare disorder belonging to the general group of rare diseases called ciliopathies that result in nephronophthisis and Leber congenital amaurosis. Nephronophthisis is the progressive wasting of the filtering unit of the kidney; it is characterized by cysts that develop in the kidneys during infancy or early childhood. Individuals will also develop symptoms of early-onset retinal dystrophy, a progressive retina disease that damages vision, within the first few years of life. Eventually the individual may experience renal failure and vision loss.", "symptoms": "Senior-Løken syndrome is a rare inherited disorder characterized by progressive kidney and eye problems.", "causes": "Senior-Løken syndrome is currently known to be caused by changes (pathogenic variants or mutations) in at least 10 genes: NPHP1, INVS /NPHP2, NPHP3, NPHP4, IQCB1/NPHP5, CEP290/NPHP6, SDCCAG8/NPHP10, WDR19/NPHP13, CEP164 and TRAF3IP1.", "affected": "Senio-Løken syndrome is a very rare disorder affects males and females in equal numbers. It is estimated that the prevalence is 1/1 million people worldwide. Only a few families with the condition have been described in the medical literature.", "related-disorders": "Early onset retinal dystrophy is part of Senior-Løken syndrome, so symptoms can be similar to other non-syndromic retinal dystrophies.", "diagnosis": "Juvenile nephronophthisis-medullary cystic disease is a diffuse kidney disease, either genetic or congenital in origin, which usually appears in children or young adults (juvenile nephronophthisis). It is characterized by a gradual increase of urea and other by-products of protein breakdown in the blood (uremia) due to progressive failure of kidney function. (For more information on this disorder, choose Medullary Cystic Disease as your search term in the Rare Disease Database.)", "therapies": "Children affected with Senior-Løken syndrome should be monitored regularly by a pediatric nephrologist. The child’s weight and height, kidney function, urinary concentration and blood pressure should be monitored. An early diagnosis of nephronophthisis can be managed and delay the progression of kidney failure; however, once end-stage kidney disease develops patients will require dialysis or a kidney transplant."}
{"OrphaCode": "ORPHA:70594", "name_zh": "墨喋呤还原酶缺乏所致多巴反应性肌张力障碍", "Name": "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "disease_name": "Sepiapterin Reductase Deficiency", "synonyms": "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "disease-overview": "", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about sepiapterin reductase deficiency is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing an accurate picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Sepiapterin reductase deficiency is caused by mutations in the SPR gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Sepiapterin reductase deficiency is an extremely rare disorder that affects males and females in equal numbers. More than 40 cases have been described in the medical literature. The exact incidence or prevalence is unknown. Because cases can go undiagnosed or misdiagnosed, determining the true frequency of the disorder in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of sepiapterin reductase deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of sepiapterin reductase deficiency is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Unlike other disorders of tetrahydrobiopterin deficiency, sepiapterin reductase deficiency is not associated with elevated phenylalanine levels and, consequently, will not be detected upon newborn screening.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1807", "name_zh": "局灶性面部皮肤发育不良III型", "Name": "Focal facial dermal dysplasia type III", "disease_name": "Setleis Syndrome", "synonyms": "Bitemporal Forceps Marks Syndrome", "disease-overview": "Setleis syndrome is an extremely rare inherited disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). Most affected infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when forceps are used to assist delivery. In addition, affected infants may have puffy, wrinkled skin around the eyes (periorbital) and/or abnormalities of the eyelashes, eyebrows, and eyelids. Infants with Setleis syndrome may be missing eyelashes on both the upper and lower lids, or they may have multiple rows of lashes on the upper lids but none on the lower lids. In addition, in some cases, the bridge of the nose may appear flat, while the tip may appear unusually rounded (bulbous). Affected infants often have loose, excessive (redundant) skin, particularly in the area of the nose and the chin. Due to such facial abnormalities, infants with Setleis syndrome may have an aged and/or leonine (lion-like) appearance. The range and severity of symptoms may vary from case to case. Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive genetic trait.", "symptoms": "Setleis syndrome, an extremely rare inherited disorder, belongs to a group of diseases known as ectodermal dysplasias that typically affect the hair, teeth, nails, and/or skin.  Setleis syndrome is characterized by distinctive abnormalities of the facial area.  The range and severity of symptoms may vary from case to case.", "causes": "In most cases, Setleis syndrome is thought to be inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Setleis syndrome is an extremely rare inherited disorder that, in theory, affects males and females in equal numbers. Approximately 20 cases have been reported in the medical literature. The majority of these cases have occurred in individuals from Puerto Rico.", "related-disorders": "Symptoms of the following disorders can be similar to those of Setleis syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Setleis syndrome is usually diagnosed shortly after birth based upon a thorough clinical evaluation and identification of characteristic features, such as distinctive scar-like, circular depressions on both temples; an aged and/or leonine facial appearance; and characteristic abnormalities of the eyelashes, eyebrows, and eyelids. It is possible that microscopic examination of small samples of skin tissue (biopsy) from the temples may reveal abnormal thinning of the outer layer of the skin (epidermis) and absence of certain specialized structures normally located within the inner layer of the skin (e.g., sweat glands, sebaceous glands, hair follicles).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:42738", "name_zh": "重型先天性中性白细胞减少症", "Name": "Severe Chronic Neutropenia", "disease_name": "Severe Chronic Neutropenia", "synonyms": "SCN", "disease-overview": "Severe chronic neutropenia (SCN) is a rare blood disorder characterized by abnormally low levels of certain white blood cells (neutrophils) in the bloodstream (neutropenia) not explained by medication use, infections or another underlying health condition like blood cancers or systemic autoimmune diseases associated with neutropenia. Neutrophils play an essential role in fighting bacterial infections by surrounding and destroying invading bacteria (phagocytosis). Symptoms associated with severe chronic neutropenia include recurring fevers, mouth sores (ulcers), inflammation of the tissues that surround and support the teeth (periodontitis) and inflammation of the sinuses (sinusitis), throat (pharyngitis) and/or ear (otitis). Due to low levels of neutrophils, affected individuals may be more susceptible to recurring bacterial infections that, in some patients, may result in life-threatening complications. SCN may last for months or years and can affect both children and adults. Clinicians recognize three forms of the disorder: congenital, autoimmune and idiopathic neutropenia. The term idiopathic neutropenia is used when severe chronic neutropenia occurs for unknown reasons.", "symptoms": "Symptoms and physical findings associated with severe chronic neutropenia vary greatly depending on how low the level of neutrophils in the blood falls. As earlier noted, the three main subdivisions of severe chronic neutropenia are congenital, autoimmune and idiopathic.", "causes": "Genetics", "affected": "Severe chronic neutropenia is a rare blood disorder that appears to affect females more than males in its idiopathic and autoimmune forms, with less discrepancy between the sexes in congenital forms. Both children and adults may be affected. Severe congenital neutropenia is estimated to affect approximately 1-4 people per million population in the United States.", "related-disorders": "Symptoms of the following disorders may be similar to those of severe chronic neutropenia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Severe chronic neutropenia can be diagnosed with a bone marrow aspirate, blood counts and genetic testing. The aspirate is collected after a detailed patient history, thorough clinical evaluation and blood tests (i.e., white blood cell count) that measure the various types of blood cells in the circulation. In individuals with severe chronic neutropenia, such blood counts demonstrate abnormally low levels of neutrophils. Normal counts of neutrophils range between 1.5 and 7 billion cells per liter of blood. If the neutrophil count falls below 0.5, then severe neutropenia is suggested.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:183660", "name_zh": "重症联合免疫缺陷", "Name": "Severe combined immunodeficiency", "disease_name": "Severe Combined Immunodeficiency", "synonyms": "bubble boy syndrome", "disease-overview": "Severe combined immunodeficiency (SCID) is a group of rare congenital syndromes with little or no immune responses.  This results in frequent recurring infections with bacteria, fungi, and viruses. Infections that are minor in most people can be life‑threatening in people with SCID.", "symptoms": "All newborn babies receive antibodies from their mothers during pregnancy that protect them from infections during the first few months of their lives. In the absence of family history of SCID and prior to newborn screening, babies with SCID often presented to medical attention between three and six months with severe infections as their maternal antibodies naturally decreased.  Symptoms included rashes, diarrhea, recurrent infections, difficulty gaining weight, weakness and/or growth delay.", "causes": "Typical or Classic SCID", "affected": "All types of SCID are very rare disorders that occur in approximately 1 or fewer births in 100,000 in the United States. SCID may be more common in people with Navajo, Apache, or Turkish ancestry.", "related-disorders": "Symptoms of the following disorders can be similar to those of SCID. Comparisons may be useful for a differential diagnosis:", "diagnosis": "", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:91355", "name_zh": "希恩综合征", "Name": "Sheehan Syndrome", "disease_name": "Sheehan Syndrome", "synonyms": "postpartum hypopituitarism", "disease-overview": "Excessive blood loss during or after delivery of a baby may affect the function of the pituitary gland, leading to a form of maternal hypopituitarism known as Sheehan syndrome (SS). Such extensive bleeding may reduce the blood flow to the pituitary gland causing the pituitary cells to be damaged or die (necrosis). Thus, the production of the usual pituitary hormones will be reduced, perhaps by a significant amount. During pregnancy the pituitary gland will enlarge and may double in size. At this time the gland is especially vulnerable to a severe drop in blood pressure (sometimes called shock) and excessive maternal bleeding may induce the shock and the damage to the cells of the gland. At that time the amount of hormones produced by the pituitary may be decreased giving rise to the symptoms associated with hypopituitarism. There appear to be two forms of the disorder: a chronic form and an acute form, depending on the amount of damage to the gland’s cells. The acute form reflects considerable damage so that symptoms become apparent soon after delivery. In chronic cases, the volume of damage is much less, and symptoms may not appear for months or years after delivery.", "symptoms": "The clinical features of Sheehan syndrome are highly variable and depend on the degree of failure of secretion of pituitary hormones including:", "causes": "In most instances, a precipitous drop in blood pressure and consequent shock, due to obstetrical bleeding, precede the onset of symptoms. According to many physicians the amount of damage that must be done to the anterior pituitary before Sheehan syndrome occurs varies from 75 to 90 percent. The enlarged pituitary requires more than normal volumes of oxygen, and any disruption of blood flow is a threat to the gland.", "affected": "Sheehan syndrome affects women with excessive blood loss and circulatory collapse following childbirth. The incidence of Sheehan syndrome is not known.", "related-disorders": "Antiphospholipid syndrome (APLS) is a rare autoimmune disorder characterized by recurring blood clots that usually appear before 45 years of age. It may also be associated with repeated spontaneous abortions for no apparent reason in young women. There may be a family history of blood clotting disorders in some cases. APLS may occur in individuals with lupus or related autoimmune diseases or as a primary syndrome in otherwise healthy individuals. (For more information on this condition, search for APLS in the Rare Disease Database.)", "diagnosis": "In patients with severe hemorrhaging on delivery accompanied by long-lasting low blood pressure, treatment is started as soon as possible. Women believed to have the chronic form usually have blood drawn and the levels for several hormones are determined.  Often, a head computed tomography (CT) or magnetic resonance imaging (MRI) scan is done; acutely this will usually show hemorrhage in the pituitary but chronically, as the blood resolves, this will show just a diminished size of the pituitary.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:104008", "name_zh": "短肠综合征", "Name": "Short Bowel Syndrome", "disease_name": "Short Bowel Syndrome", "synonyms": "SBS", "disease-overview": "", "symptoms": "The symptoms and severity of short bowel syndrome can vary greatly depending upon the length and function of the remaining or undamaged portion of the small intestine. Because short bowel syndrome can vary so greatly, it is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals or parents of affected children or infants should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Short bowel syndrome is generally broken down into individuals in whom the disorder is acquired during life and newborns in which the disorder is present at birth (congenital). Acquired short bowel syndrome is more common than the congenital form of the disorder.", "affected": "Short bowel syndrome affects males and females in equal numbers. The disorder is usually acquired during life, but in rare cases may be present at birth (congenital). In adults, short bowel syndrome usually results from the surgical removal of a portion of the small intestine. Crohn’s disease is the most frequent cause of surgical removal of the small intestine in adults. In newborns, necrotizing enterocolitis is the most common cause of surgical removal of the small intestines. The exact incidence and prevalence of short bowel syndrome in the general population is unknown.", "related-disorders": "", "diagnosis": "A diagnosis of short bowel syndrome is made based upon a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including laboratory tests and X-ray studies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:26792", "name_zh": "短链酰基辅酶A脱氢酶缺乏症", "Name": "Short chain acyl-CoA dehydrogenase deficiency", "disease_name": "Short Chain Acyl CoA Dehydrogenase Deficiency", "synonyms": "SCAD deficiency", "disease-overview": "Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive genetic defect in fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme.", "symptoms": "Essentially all individuals identified through newborn screening have been healthy. Therefore, the variety of symptoms that have been reported in other individuals with SCAD deficiency are all likely coincidental. This situation has been accentuated by the existence of two very common variants in the SCAD gene that lead to blood and urine findings suggestive of SCADD but are not sufficiently severe to cause complete SCADD.", "causes": "SCADD is an autosomal recessive condition caused by mutations in the Short Chain Acyl-Coenzyme A dehydrogenase (ACADS) gene leading to deficiency of the SCAD enzyme.", "affected": "SCAD deficiency is thought to affect 1 in 40,000 to 100,000 newborns. In the US, ~10% of individuals have two copies of one of the common polymorphisms leading to potential identification of related metabolites in urine or blood.", "related-disorders": "The following disorders can have similar lab findings to those seen SCADD and therefore should be considered when symptoms are present. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Mitochondrial respiratory chain disorders are a group of related disorders characterized by mutations affecting the parts of the cell that release energy (mitochondria). Mitochondrial disorders often hamper the ability of affected cells to combine food with oxygen to produce energy. In most mitochondrial disorders, abnormally high numbers of defective mitochondria are present in the cells of the body. Mitochondrial diseases often affect more than one organ system of the body. Common symptoms associated with mitochondrial disorders include muscle weakness, stroke-like episodes, and seizures. Exercise intolerance is another common symptom. Some forms are associated with disease of the heart muscle (cardiomyopathy). Mitochondrial disorders include Kearns-Sayre syndrome, MELAS syndrome, MERRF syndrome, NARP, and Leber hereditary optic neuropathy. (For more information on this disorder, choose the specific disorder name as your search term in the Rare Disease Database.) Ethylmalonic acid (EMA) is elevated in both mitochondrial respiratory chain disorders and SCADD.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:51083", "name_zh": "家族性短QT综合征", "Name": "Familial short QT syndrome", "disease_name": "Short QT Syndrome", "synonyms": "SQTS", "disease-overview": "", "symptoms": "The extremely abbreviated QTc interval that characterizes the ECG of SQTS patients is associated with defects in cardiac electrical function including life-threatening arrhythmias that may appear at rest or during exercise with no apparent initiating cause.", "causes": "While usually assumed to be inheritable, SQTS cases in which a familiar history is absent may be caused by a spontaneous mutation during embryonic development (known as a de novo mutation). Moreover, not all SQTS patients have an identifiable mutation.", "affected": "Many SQTS patients likely go undiagnosed or misdiagnosed, and determinations of SQTS incidence and prevalence are difficult due to limited data. Some have estimated the SQTS prevalence at less than 1 in 10,000. Others have suggested that SQTS shows a peak of incidence during the first year of life, age at which many SCD events occur and another peak in late adulthood.", "related-disorders": "SQTS is classified among the channelopathies encompassing diseases caused by mutations in genes encoding ion channels. Opposite defects in the function of the products of one these genes may cause completely different diseases included in the same group. A case in point is the Andersen-Tawil syndrome (ATS). Loss-of-function mutations in KCNJ2 (gene encoding the potassium channel Kir2.1) provoke ATS type 1, while gain-of-function alterations in the same gene yield SQTS type 3. Similarly, loss-of-function mutations in KCNH2, which codes for HERG, result in long QT syndrome type 2, whereas gain-of-function mutations in the same gene result in SQTS type 1. The link between these channelopathies is the mutated gene causing each disease and its symptoms. However, the ECG findings that characterize each channelopathy are different and, for the most part, it is easy to differentiate among them. (For more information on these disorders (ATS, LQTSs, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia), choose the specific disorder name as your search term in the Rare Disease Database).", "diagnosis": "Around 250 cases and nearly 150 families have been reported in the literature with SQTS. These numbers may not be entirely accurate, as there are difficulties diagnosing these patients. While the disease may be obvious in symptomatic patients, doubts may arise when dealing with asymptomatic patients, especially if they have no family history. In the past, SQTS was diagnosed if the QTc interval was 0.3 seconds or less. Nowadays, SQTS is suspected when the QTc interval duration is 0.34 seconds, a threshold under which a definitive diagnosis is established, even in the absence of symptoms. Furthermore, SQTS is also considered in patients with a QTc interval between 0.34 and 0.36 seconds plus one or more of the following signs: history of documented ventricular tachycardia or ventricular fibrillation in the absence of heart disease or reversible causes, family history of SQTS, family history of unexplained SCD at age ≤ 40 or a confirmed disease-causing mutation.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3163", "name_zh": "SHORT综合征", "Name": "SHORT syndrome", "disease_name": "SHORT Syndrome", "synonyms": "Aarskog-Ose-Pande syndrome", "disease-overview": "SHORT syndrome is a rare condition described by RJ Gorlin et al in 1975 based on the striking physical features of two infants born to unaffected parents. Over time, additional individuals have been described and the clinical definition of SHORT syndrome has been expanded. Each letter of SHORT syndrome represents one of the common findings in affected persons:", "symptoms": "SHORT syndrome is a disorder that affects multiple organ systems. This condition was initially characterized by short stature, joints that stretch more than usual (hyperextensibility), a particular type of hernia in which the intestine protrudes through a weak spot in the abdominal muscles (inguinal hernia), deep set eyes (ocular depression), defective development of the anterior chamber of the eye that can lead to glaucoma (Rieger anomaly) and delayed eruption of teeth.", "causes": "SHORT syndrome is caused by changes (pathogenic variations) in the PIK3R1 gene. This gene is responsible for proper function of the enzyme PI3K. Enzymes are proteins that are required for cellular reactions. Specifically, PI3K is involved in cell growth and division, transport of materials within cells, movement of cells and regulation of the hormone insulin.", "affected": "SHORT syndrome is a very rare disorder with fewer than 50 reported cases in the literature to date. SHORT syndrome is not known to be more prevalent in a certain ethnic group or geographic location.", "related-disorders": "Symptoms of the following disorders can be similar to those of SHORT syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Rieger syndrome: a rare disorder inherited in an autosomal dominant pattern. The main characteristics are facial, dental and eye abnormalities. Facial characteristics include a small jaw, broad nasal bridge and/or a protruding lower lip. Although Rieger anomaly is a classic feature of SHORT syndrome, an individual may have Rieger syndrome alone without the other clinical features of SHORT syndrome. (For more information on this disorder choose Rieger as your search term in the Rare Disease Database.)", "therapies": "No specific treatment exists for SHORT syndrome. Treatment is symptomatic and supportive based on the features present in each patient. Rieger anomaly/glaucoma, dental anomalies, insulin resistance/diabetes mellitus and hearing loss can often be treated by appropriate medical specialists. Given the increased risk for insulin resistance, it is generally advisable to avoid growth hormone treatments."}
{"OrphaCode": "ORPHA:2462", "name_zh": "Shprintzen-Goldberg综合症", "Name": "Shprintzen-Goldberg syndrome", "disease_name": "Shprintzen Goldberg Syndrome", "synonyms": "SGS", "disease-overview": "", "symptoms": "Most newborns with SGS are born full term and have normal weight, height and head circumference. Symptoms begin to appear in the newborn period. Both males and females are affected equally. Craniosynostosis is a common characteristic of SGS. This early fusion of skull bones prevents the skull from growing normally. Individuals with SGS tend to have mild to moderate intellectual and cognitive disabilities even if they do not have craniosynostosis.", "causes": "SGS is one of many diseases that arise from variants in genes that affect the TGF-β signaling pathway. The TGF-β signaling pathway regulates many aspects of early development and tissue homeostasis, and thus SGS patients and people with related diseases have a variety of physical malformations.", "affected": "SGS affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. As of 2024, there are 44 known patients with SKI pathogenic variants relating to SGS. Because of the similar symptoms, SGS is often misdiagnosed as Loeys-Dietz or Marfan syndrome. The disorder is probably underdiagnosed, making it difficult to determine its true frequency. It is estimated that fewer than 1,000 people in the U.S. have this disease.", "related-disorders": "Loeys- Dietz syndrome (LDS)", "diagnosis": "Shprintzen Goldberg syndrome is generally diagnosed after a thorough physical examination and the presence of certain craniofacial, skeletal, cardiovascular and neurologic features, brain anomalies and other characteristics such as minimal subcutaneous fat and defects in the abdominal wall and myopia. There is currently no test for SGS other than identification of a pathogenic variant in the SKI gene through genetic testing. To date, this is the only identified gene associated with SGS. Patients with Marfan syndrome and FBN1 gene variants rarely have craniosynostosis and other distinguishing features of SGS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:811", "name_zh": "Shwachman-Diamond综合征", "Name": "Shwachman-Diamond syndrome", "disease_name": "Shwachman Diamond Syndrome", "synonyms": "lipomatosis of pancreas, congenital", "disease-overview": "Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities.", "symptoms": "Shwachman syndrome is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (pancreatic insufficiency); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells; abnormal bone changes that may affect the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature; and/or other physical and/or developmental abnormalities. The range and severity of symptoms may vary greatly from case to case.", "causes": "Shwachman syndrome is most likely inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Shwachman syndrome is a rare genetic disorder that may be apparent at birth (congenital), during early infancy, or within the first few years of life. In rare cases, the diagnosis may be made during adolescence or adulthood. Reports indicate that the disorder affects males and females by a ratio of approximately 1.7 to 1.", "related-disorders": "Some of the symptoms of the following disorders may be similar to those seen in Shwachman syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Shwachman syndrome is usually diagnosed at birth or during early childhood based upon a thorough clinical evaluation, characteristic physical findings, and specialized tests. In rare cases, the diagnosis may be made during adolescence or adulthood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:309294", "name_zh": "唾液酸沉积病", "Name": "Sialidosis", "disease_name": "Sialidosis", "synonyms": "alpha-neuraminidase deficiency", "disease-overview": "Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type II is usually more severe than sialidosis type I. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis is inherited as an autosomal recessive trait.", "symptoms": "The age of onset, symptoms, progression and severity of sialidosis vary greatly from one person to another. Sialidosis type I is a milder form of the disorder than sialidosis type II and has later onset. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Sialidosis is caused by mutations of the NEU1 gene. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "Sialidosis affects males and females in equal numbers. The exact incidence of sialidosis in the general population is unknown. One estimate places the incidence at 1 in 4.2 million individuals in the Australian population. Another estimate placed the incidence at 1-4 individuals per 200,000 of the general population. Because rare disorders like sialidosis often go unrecognized or misdiagnosed, determining the true frequency of sialidosis in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of sialidosis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of sialidosis is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. An examination of urine may reveal increased levels of oligosaccharides. A urine test is usually followed up by blood tests and a skin biopsy (surgical removal and microscopic study of skin tissue). These tests can reveal low levels of the enzyme alpha-neuraminidase in blood and skin tissue.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:98967", "name_zh": "施耐德角膜营养不良", "Name": "Schnyder corneal dystrophy", "disease_name": "Sickle Cell Disease", "synonyms": "SCD", "disease-overview": "", "symptoms": "Hemoglobin is an iron-rich protein contained in red blood cells and is responsible for carrying oxygen from the lungs to the rest of the body. In SCD, the symptoms stem from the abnormal hemoglobin in the red blood cells. The abnormal hemoglobin causes the red blood cells to be sickle-shaped which triggers a series of events leading to fragile red blood cells and blocking blood flow.", "causes": "Sickle cell disease is caused by changes (variants) in both copies of the hemoglobin beta (HBB) gene.", "affected": "The frequency of SCD varies from country to country. SCD affects 0.6 percent of the African American population in the United States (approximately 100,000 cases in the United States). It is also common in people of Hispanic descent, from India, Central America and the Arabian Peninsula, but can occur in people of any background. SCD affects approximately one in every 300 – 500 African American newborns. The sickle cell trait is present in approximately 40 percent of the general population in some areas of Africa. The incidence of sickle cell trait in Americans of African descent is 9 percent.", "related-disorders": "It has become easier to distinguish SCD from other disorders because all children born in the U.S. are screened for SCD at birth. In older patients and immigrants, SCD should be considered in people with anemia and/or recurrent pain, especially if they have family from the regions where SCD is most common (for example Africa and regions listed above).", "diagnosis": "Newborn babies in the U.S. (all 50 states and the District of Columbia) are screened for sickle cell status (SCD or SCT) 24-48 hours after birth as part of the newborn screening program. The screening test is done using electrophoresis and/or high-pressure liquid chromatography. A positive newborn screening test means that a baby is likely to have SCD or SCT, but additional testing is needed to confirm the diagnosis. Molecular genetic testing for variants in the HBB gene is also available.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:373", "name_zh": "Simpson-Golabi-Behmel综合征", "Name": "Simpson-Golabi-Behmel syndrome", "disease_name": "Simpson-Golabi-Behmel Syndrome", "synonyms": "Simpson dysmorphia syndrome", "disease-overview": "", "symptoms": "Simpson-Golabi-Behmel Syndrome Type 1", "causes": "SGBS type 1 is caused by harmful changes (mutations) in the genes GPC3 and GPC4, located on the X chromosome. SGBS type 2 is caused by mutations in the genes OFD1 and PIGA, also located on the X chromosome. They are genetic disorders that are inherited in a recessive X-linked pattern.", "affected": "SGBS is present from birth (congenital) and can be diagnosed in a baby, even though some of the features might not appear until a child is older. All males who have a mutation in one of the genes for SGBS will have the condition. It is not known what percentage of carrier females have symptoms. As of 2014, there were 250 known cases of SGBS type 1. As of 2019, there have been 8 symptomatic female carriers reported.", "related-disorders": "Symptoms of the following disorders can be similar to those of SGBS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Diagnosis of SGBS type 1 is made based on physical features of the patient, family history and genetic testing. There are no official criteria that are used to diagnose the condition. The main physical features are the different types of overgrowth (large body, large head, large fetus, large baby), the specific facial features, abnormalities that happen in the middle of the body (midline defects), and risk for tumors. The other physical features that are considered are organs larger than expected (organomegaly), issues with the skeleton, and problems with the heart, central nervous system, kidney, and gastrointestinal tract that are present from birth. A family history showing an X-linked pattern of inheritance can help with diagnosis. Genetic testing can involve sequencing and deletion/duplication analysis of the GPC3 gene, a chromosomal microarray, or a multigene panel that includes GPC3, GPC4, and other genes related to differential diagnoses.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:85191", "name_zh": "Singleton-Merten发育不良", "Name": "Singleton-Merten dysplasia", "disease_name": "Singleton Merten syndrome", "synonyms": "Merten-Singleton syndrome", "disease-overview": "Singleton-Merten syndrome is an extremely rare, multisystem disorder the major characteristics of which are tooth abnormalities (dental dysplasia), calcifications in the aorta, the major artery of the body, and certain valves of the heart (i.e., aortic and mitral valves), as well as progressive thinning and loss of protein of the bones (osteoporosis), especially in the hands and feet. Other physical findings usually associated with Singleton-Merten syndrome may include generalized muscle weakness; progressive loss or wasting away of muscle tissue (atrophy); delayed growth, possibly resulting in short stature; delays in motor development; a skin condition characterized by thickened patches of red, scaly skin, particularly on the fingers; vision problems (glaucoma); abnormal ligaments of the joints and muscle; and/or malformation of the hips and/or feet. It appears that, in some cases, Singleton-Merten syndrome is present as a result of a random (sporadic) mutation that occurs for no apparent reason. In other cases, an autosomal dominant pattern of inheritance has been suggested.", "symptoms": "Singleton-Merten syndrome, an extremely rare disorder, is characterized by abnormalities of the teeth (dental dysplasia), abnormal accumulation of calcium deposits (calcifications) in the major artery of the body (aorta) and certain valves of the heart (i.e., aortic and mitral valves), and/or progressive thinning and loss of protein of the bones (osteoporosis). Between the ages of four to 24 months, most affected infants experience generalized muscle weakness and loss or wasting away (atrophy) of muscle tissue. Affected infants may also exhibit delays in general physical (somatic) development, possibly resulting in short stature, and/or delays in the ability to coordinate muscles and perform certain tasks (motor development).", "causes": "Singleton-Merten syndrome is an extremely rare disorder that is likely an autosomal dominant condition with highly variable expression. Individuals with a mild form of Singleton-Merten syndrome may show only one symptom, such as a skin rash (psoriasis). Individuals with a severe form may exhibit all the main features of Singleton-Merten syndrome including calcifications in the heart and aorta as well as skeletal and dental abnormalities.", "affected": "Singleton-Merten syndrome is an extremely rare inherited disorder that, in theory, affects males and females in equal numbers. However, in reported cases, females have been affected more frequently than males (3:1). Fewer than 10 individual cases and three families (kindred) with multiple affected members have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Singleton-Merten syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The ectodermal dysplasias (ED) are a group of diseases typically characterized by abnormalities of the head and face (craniofacial) area, the hair, teeth, nails, and/or skin. In some cases, the abnormalities associated with some of the ectodermal dysplasias may be similar to findings associated with Singleton-Merten syndrome. Some of the ectodermal dysplasias may also be characterized by abnormalities of the heart and vascular system similar to those associated with Singleton-Merten syndrome. (For more information on these disorders, choose ectodermal dysplasia or the exact disease name in question as your search term in the Rare Disease Database).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3169", "name_zh": "并腿畸形", "Name": "Sirenomelia", "disease_name": "Sirenomelia", "synonyms": "mermaid syndrome", "disease-overview": "Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason (sporadically).", "symptoms": "There are a wide range of physical malformations that can potentially occur with sirenomelia and the specific findings can vary greatly from one individual to another. Sirenomelia is associated with severe life-threatening complications and is often fatal in the first years of life. However, survival beyond infancy into later childhood or young adulthood has been reported in a handful of cases.", "causes": "The exact cause of sirenomelia is unknown. Researchers believe that both environmental and genetic factors may play a role in the development of the disorder. Most cases appear to occur randomly for no apparent reason (sporadically), which suggests environmental factors or a new mutation. Most likely, sirenomelia is multifactorial, which means that several different factors may play a causative role. In addition, different genetic factors may contribute to the disorder in different people (genetic heterogeneity).", "affected": "Sirenomelia affects males more often than females by a ratio of 2.7-1. The exact incidence is unknown, but sirenomelia is estimated to occur in approximately 1 in 60,000 to 100,000 births. Sirenomelia occurs with greater frequency in one twin of identical (monozygotic) twins than it does in fraternal (dizygotic) twins or individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of sirenomelia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of sirenomelia can be made prenatally, most often during the second trimester, by fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with sirenomelia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2882", "name_zh": "谷固醇血症", "Name": "Sitosterolemia", "disease_name": "Sitosterolemia", "synonyms": "phytosterolemia", "disease-overview": "", "symptoms": "Signs and symptoms of sitosterolemia vary from person to person, but any one of these symptoms alone is reason enough to be tested for it. Some patients (especially children) present with high cholesterol. While most cases of high cholesterol are not caused by sitosterolemia, if a patient’s cholesterol varies greatly with diet, but does not respond well to statins, then it could be a sign of sitosterolemia.", "causes": "Sitosterolemia is an autosomal recessive genetic condition caused by mutations in the ABCG5 or ABCG8 gene.", "affected": "A recent report suggests that sitosterolemia has a global prevalence of at least 1 in 2.6 million for an ABCG5 gene mutation and 1 in 360,000 for an ABCG8 gene mutation [Hooper, et al, 2016]. The routine clinical test for measuring plasma concentration of cholesterol does not measure plant sterols; therefore sitosterolemia is likely to be underdiagnosed. Men and women are equally likely to have sitosterolemia, and anyone with this condition will have had it from birth, although many are not diagnosed until later.", "related-disorders": "Symptoms of the following disorders can be similar to sitosterolemia.", "diagnosis": "The diagnosis of sitosterolemia is established in individuals who have greatly increased plant sterol concentrations (especially sitosterol, campesterol, and stigmasterol) in the blood and tissues. Shellfish sterols can also be elevated.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:816", "name_zh": "Sj÷gren-Larsson 综合征", "Name": "Sjögren-Larsson syndrome", "disease_name": "Sjögren-Larsson Syndrome", "synonyms": "SLS", "disease-overview": "", "symptoms": "The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as thickened skin that is yellow-brown in color (hyperkeratosis). This thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures).  Unique to SLS is the itchy characteristic of the skin (pruritis).", "causes": "The gene that is altered in patients with Sjögren-Larsson syndrome is the aldehyde dehydrogenase 3A2 (ALDH3A2) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "Sjögren-Larsson syndrome affected both males and females equally and its onset is from birth. The incidence of this condition worldwide is unknown. However, the prevalence in Sweden is 1 in every 250,000 individuals.", "related-disorders": "Symptoms of the following disorders can be similar to those of Sjögren-Larsson syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Sjögren-Larsson syndrome may be suspected at birth. A clinical diagnosis can be made by age 3 when the primary features of the disorder are usually apparent. The affected individual usually does not have a family history of this disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70573", "name_zh": "小细胞肺癌", "Name": "Small Cell Lung Cancer", "disease_name": "Small Cell Lung Cancer", "synonyms": "oat cell cancer", "disease-overview": "", "symptoms": "The signs and symptoms of small cell lung cancer can vary from one person to another. Specific findings depend on numerous factors including the exact location and size of the tumor, the extent of invasion of the tumor into nearby tissue or organs and whether the disease has remained localized or spread to other areas of the body (metastasized). Early in the course of the disease, there may be no symptoms (asymptomatic) or only a few, mild symptoms. As the tumor grows, more signs and symptoms develop.", "causes": "SCLC is primarily caused by cancer causing chemicals (carcinogens) that are found in tobacco smoke. These carcinogens cause damage to the DNA (deoxyribonucleic acid; genes) in cells which leads to cancer formation. However, the exact reason normal cells become cancerous is not known. Most likely, multiple factors including genetic and environmental ones play a role in the development of SCLC in certain people. Current research suggests that abnormalities of DNA, which is the carrier of the body’s genetic code, are the underlying basis of normal cells transforming into cancer cells.", "affected": "The incidence of small cell lung cancer in the United States has been declining over the last two decades, which most researchers attribute to the decline in smoking in the country. Lung cancer, as a group, is the second most common form of cancer in the United States. SCLC accounts for about 10%-15% of people who have lung cancer. There are about 30,000 to 35,000 new patients diagnosed with SCLC each year in the United States. Almost everyone who develops SCLC has a history of smoking. It is extremely rare in individuals who have never smoked.", "related-disorders": "", "diagnosis": "A diagnosis of small cell lung cancer is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. SCLC is an aggressive cancer and in many affected individuals the cancer has already spread when the diagnosis is made.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:819", "name_zh": "史密斯-马吉利氏综合征", "Name": "Smith-Magenis syndrome", "disease_name": "Smith Magenis Syndrome", "synonyms": "chromosome 17, interstitial deletion 17p", "disease-overview": "", "symptoms": "Smith-Magenis syndrome is a highly variable disorder. The specific symptoms present and the overall severity of the disorder can vary from one person to another. It is important to understand that affected individuals will not have all of the symptoms discussed below and that every individual case is unique. Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis.", "causes": "In approximately 90% of affected individuals, a portion of the short arm (p) of chromosome 17 (17q11.2) is missing, which is referred to as deleted or monosomic. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 17p11.2 refers to band 11.2 on the short arm of chromosome 17. The numbered bands specify the location of the thousands of genes that are present on each chromosome.", "affected": "Smith-Magenis syndrome affects males and females in equal numbers. The incidence is estimated to be 1 in 15,000-25,000 people in the general population in the United States. However, cases may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of SMS in the general population. SMS has been reported throughout the world and in all ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of Smith-Magenis syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Smith-Magenis syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized genetic tests. The diagnosis of SMS is confirmed when deletion 17p11.2 (cytogenetic analysis or microarray) or RAI1 gene mutation is identified.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:457485", "name_zh": "巨颅畸形-智力发育迟缓-神经发育迟缓-小胸廓-综合征", "Name": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "disease_name": "Smith-Kingsmore Syndrome", "synonyms": "SKS", "disease-overview": "", "symptoms": "Many symptoms and features are thought to be part of SKS. Some of these characteristics occur more frequently than others. Since there is great variability, not every person with SKS will have all these features. As research progresses, the formal description of SKS will likely change.", "causes": "SKS is usually an autosomal dominant condition, which means that one copy of the altered MTOR gene in each cell is sufficient to cause the disorder.", "affected": "MTOR-related disorders are extremely rare. The total patient population is still unknown, but it is estimated that there are about 10 people with MTOR gene disorders (with some MTOR mutations causing SKS) in every 10,000 individuals. However, SKS may go undiagnosed or misdiagnosed, making it extremely difficult to determine the true frequency in the general population. Based on the current understanding of this condition, SKS occurs worldwide in people of all ethnic groups.", "related-disorders": "", "diagnosis": "SKS is a rare condition that many physicians are not familiar with. A diagnosis of SKS is suspected based upon the identification of characteristic features, a detailed patient and family history and a thorough clinical evaluation.", "therapies": "Currently, there is no cure for SKS, and no treatments approved by the U.S. Food and Drug Administrations (FDA). Treatment is based on a child’s specific symptoms. Patients and their families typically visit one or more of the following medical specialists:"}
{"OrphaCode": "ORPHA:818", "name_zh": "Smith-Lemli-Opitz综合征", "Name": "Smith-Lemli-Opitz syndrome", "disease_name": "Smith-Lemli-Opitz Syndrome", "synonyms": "7-dehydrocholesterol reductase deficiency", "disease-overview": "", "symptoms": "The features of SLOS are not the same in every patient. Common findings are slowed growth before and after birth, a small head (microcephaly) and a spilt in the roof of the mouth (cleft palate). Most babies have differences in their fingers and/or toes. This includes fused toes (2-3 syndactyly) and extra fingers or toes (polydactyly). Males with SLOS can have underdeveloped genitals that may resemble female genitals. People with SLOS often experience behavioral problems, sleep problems and mild to severe intellectual disability.", "causes": "The chromosomes in our cells carry our genes which occur in pairs and are instructions to make proteins. One copy of each gene is inherited from the mother, and the other from the father. SLOS is caused by having a harmful change (mutation) in both copies of the DHCR7 gene. This causes lack of an enzyme (7-dehydrocholesterol reductase) which is needed to make cholesterol. Cholesterol is a waxy substance that is important for making cell structures. Cholesterol is necessary for development before and after birth. Mistakes in DHCR7 also leads to a buildup of 7-dehydrocholesterol (7-DHC) which is toxic to the body. Buildup of 7-DHC along with low cholesterol cause the features of SLOS.", "affected": "About 1 in 20,000 to 1 in 60,000 people in the US have SLOS. This condition affects males and females equally. However, females are less likely to be diagnosed because they do not have genital differences. SLOS occurs more often in people of European ancestry.", "related-disorders": "Meckel syndrome is also an autosomal recessive condition. There are 13 genes known to cause Meckel syndrome. It occurs in 1 in 13,250 to 1 in 140,000 people. Like SLOS, babies with Meckel syndrome may have extra fingers or toes (polydactyly). They often have large cyst-filled (polycystic) kidneys. Incorrect development of the brain and spinal cord (neural tube defects) can occur. Meckel syndrome can also affect the eyes, facial features, heart, bones, urinary system and genitals. Like SLOS, Meckel syndrome varies between people. (For more information on this condition, choose Meckel syndrome as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of SLOS is based on physical findings and either biochemical or genetic testing. Biochemical testing looks for protein levels in the blood. In patients with SLOS, the protein 7-dehydrocholesterol is elevated. Genetic testing looks for changes in a patient’s genes. SLOS is diagnosed if there are harmful changes in both copies of the DHCR7 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:820", "name_zh": "Sneddon综合征", "Name": "Sneddon syndrome", "disease_name": "Sneddon Syndrome", "synonyms": "livedo reticularis racemosa and cerebrovascular accidents", "disease-overview": "Sneddon syndrome is a rare progressive disorder affecting small- and medium-sized blood vessels. The disorder is characterized by the association of a skin condition and neurological abnormalities. Characteristic findings include multiple episodes of reduced blood flow to the brain (cerebral ischemia) causing mini-strokes or stroke and bluish net-like patterns of discoloration on the skin surrounding normal-appearing skin (livedo reticularis). Additional symptoms may include headache, dizziness, abnormally high blood pressure (hypertension), and heart disease. Lesions may develop within the central nervous system as a result of reduced blood flow to the brain, which can cause reduced intellectual ability, memory loss, personality changes, and/or other neurological symptoms. The combination of stroke symptoms and livedo reticularis differentiates this syndrome from other disorders. The exact cause of Sneddon syndrome is not fully understood.", "symptoms": "Sneddon syndrome is a slowly progressive disorder of small- and medium-sized arteries, which are the blood vessels that carry blood away from the heart. The disorder is characterized by blockages (occlusions) of the arteries that cause a reduction of blood flow to the brain and to the skin. Associated symptoms vary from one person to another based, in part, upon the specific arteries that are affected. An irregular, net-like pattern of bluish skin discoloration surrounding areas of normal-appearing skin (livedo reticularis) is characteristic of this disorder. The arms and legs are most often affected as well as the trunk, buttocks, and hands and feet. Livedo reticularis is worsened by cold and pregnancy. (In the European medical literature, the term livedo reticularis is used to describe the skin changes of the extremities only that disappear when the skin is warmed. Livedo racemosa is used to describe skin changes that involve also the buttocks and the trunk and do not disappear with warm temperatures. These two dermatologic conditions are separated because livedo reticularis is much more frequent, but the association with strokes exists for livedo racemosa only).", "causes": "The exact cause of Sneddon syndrome is unknown. Most cases occur randomly for no apparent reason (sporadically). Possible immunological, environmental, genetic, and/or other factors are under investigation as potential causes of the disorder.", "affected": "Sneddon syndrome has been reported more often in females than in males. Almost 80% of the patients are women with a median age of diagnosis at 40 years. Symptoms usually begin in early to middle adulthood, but can occur at any age including childhood. The incidence and prevalence are unknown. One estimate places the incidence at approximately one out of 250,000 individuals in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Sneddon Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Lupus is a chronic, inflammatory autoimmune disorder affecting the connective tissue. In autoimmune disorders, the body’s own immune system attacks healthy cells and tissues causing inflammation and malfunction of various organ systems. In lupus, the organ systems most often involved include the skin, kidneys, blood and joints. Many different symptoms are associated with lupus, and most affected individuals do not experience all of the symptoms. In some cases, lupus may be a mild disorder affecting only a few organ systems. In other cases, it may result in serious complications. Initial symptoms may include excessive fatigue, fever, swollen glands, loss of appetite (anorexia) and weight loss, and headaches. Vascular symptoms in people with Lupus may include a permanent increase in the diameter (dilation) of very small blood vessels (capillary telangiectasis), painfully cold fingers and toes caused by spasms of small blood vessels in response to cold (Raynaud’s phenomenon), and inflammation of the blood vessels (vasculitis). There are at least three forms of lupus: the classic form, systemic lupus erythematosus; a form that only affects the skin, discoid lupus erythematosus; and drug-induced lupus erythematosus. The term lupus is most often used to denote systemic lupus erythematosus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3063", "name_zh": "X连锁智力障碍，Snyder亚型", "Name": "X-linked intellectual disability, Snyder type", "disease_name": "Snyder-Robinson Syndrome", "synonyms": "spermine synthase deficiency syndrome", "disease-overview": "", "symptoms": "The symptoms, progression and severity of SRS exhibit some variability across families and individual patients. Affected children have a gestalt consisting of facial dysmorphism with a prominent lower lip, an asthenic build, low muscle mass, kyphoscohosis and speech abnormalities. Males with SRS have low muscle tone (hypotonia) at birth. Symptoms appear early, especially the facial features. Developmental milestones are also not met early in life. The developmental delay progresses such that many boys with SRS have some motor disability. Osteoporosis develops which can result in numerous fractures without a causative event. Seizures have been noted in many affected males and severity varies.", "causes": "All presently known cases of Snyder-Robinson syndrome are caused by changes (mutations) in the SMS gene. Thus far, 21 mutations are known although not all have been published. Since the gene resides on the X chromosome only males are affected. If the mother of a male with SRS carries the mutation, there is a 50% chance another son will have SRS and a daughter will be a carrier. The rate of new mutations appears to be low as only a single case exists in which the mother of the boy with SRS was not a carrier.", "affected": "Snyder-Robinson syndrome is a rare X-linked intellectual disability disorder and as such it is difficult to estimate its prevalence. As SRS has been identified in patients located in the United States, South America and Europe, it is likely not restricted to any ethnic population geographical locale.", "related-disorders": "Many XLID disorders present with hypotonia very early in life. However, SRS is the only human disorder related to an abnormality in polyamine biosynthesis.", "diagnosis": "A diagnosis of Snyder-Robinson syndrome can be made based on the clinical presentation and confirmed by sequencing of the SMS gene. However, since SRS is a rare XLID condition, more likely the diagnosis is made after whole exome sequencing (WES) identifies a mutation in the SMS gene. Additionally, since at present only one mutation in SMS has appeared more than once, biochemical studies (SMS activity and cellular spermidine/spermine ratios) should be conducted to absolutely insure a proper diagnosis of SRS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3394", "name_zh": "软组织肉瘤", "Name": "Soft Tissue Sarcoma", "disease_name": "Soft Tissue Sarcoma", "synonyms": "STS", "disease-overview": "", "symptoms": "The signs and symptoms of soft tissue sarcomas can vary greatly from one person to another. Specific findings depend on numerous factors including the specific subtype, the exact location of the tumor, the extent of the tumor into nearby tissue or organs, the specific organs involved and whether the disease has remained localized or spread to other areas of the body (metastasized).", "causes": "As with many forms of cancer, the exact, underlying cause of soft tissue sarcoma is not fully understood. In most affected individuals, this cancer is thought to occur randomly, for no specific reason (sporadically). Sporadic occurrence of cancer is thought to occur because of multiple factors acting together. This can include genetic and environmental factors. Current research suggests that abnormalities in DNA, which is the carrier of the body’s genetic code, are the underlying basis that causes cells to become cancerous (malignant). The specific cell that becomes cancerous differs depending upon the specific subtype of soft tissue sarcoma. In most instances, these changes in DNA are acquired during life and are not inherited, nor do soft tissue sarcomas tend to run in families, unless affected individuals also have a genetic cancer-predisposition syndrome.", "affected": "Soft tissue sarcomas affect males and females and individuals of any age and every racial and ethnic group. This is a large group of tumors, but overall, they are still classified as rare disorders. Estimates of their frequency varies. The American Cancer Society estimates that soft tissue sarcomas account for about 2% of all cancers in the United States. However, because rare diseases often go misdiagnosed or undiagnosed, determining their true frequency in the general population is difficult.", "related-disorders": "Symptoms of the following disorders can be similar to those of soft tissue sarcomas. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of soft tissue sarcoma is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A physical examination can reveal a mass or growth that can be painless.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:821", "name_zh": "Sotos综合征", "Name": "Sotos syndrome", "disease_name": "Sotos Syndrome", "synonyms": "cerebral gigantism", "disease-overview": "Sotos syndrome is a genetic disorder, described in 1964, characterized by excessive growth before and after birth, a large, elongated (dolichocephalic) head, distinctive facial configuration, and a non-progressive neurological disorder with intellectual disability. Advanced bone age is present in approximately 75 to 85% of patients.", "symptoms": "The main clinical finding is prenatal and postnatal overgrowth. The growth velocity is particularly excessive in the first 3 to 4 years of life and subsequently proceeds at the normal rate, but in the high percentiles. The mean height is usually 2 to 3 years ahead of peers during childhood. The weight is usually appropriate for the height and the bone age is advanced mean by 2 to 4 years over chronological age, during childhood. Adult height usually exceeds the average of normal men or women. Some individuals may reach excessive adult heights; males of 193 cm to 203 cm (6 ft. 4 in. to 6 ft. 8 in.) and females up to 188 cm (6 ft. 2 in.) are known.", "causes": "Sotos syndrome is caused by mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1). A few years ago, mutations in the NFIX gene (nuclear factor I, X type) were identified in 5 patients with Sotos syndrome (Sotos syndrome 2). In 2015, a loss-of-function mutation in the APC2 (adenomatous polyposis coli 2) gene was reported in 2 siblings with some neural features of Sotos syndrome including intellectual disability, abnormal brain structure, and typical facial features, but no other features such as bone or heart abnormalities (Sotos syndrome 3). The parents were blood relatives (consanguineous). The APC2 gene is specifically expressed in the nervous system, and is a crucial downstream gene of NSD1. In other words, mutations in the NSD1 gene affects the APC2 gene and results in the neural abnormalities.", "affected": "Sotos syndrome affects males and females in equal numbers, occurs in all ethnic groups and has been detected throughout the world. This condition occurs in about one in 14,000 live births.", "related-disorders": "Symptoms of the following disorders may be similar to those of Sotos syndrome. Comparisons may be useful for a differential diagnosis. Confirmation of any of the syndromes can be obtained by genetic testing.", "diagnosis": "There is no biochemical marker for the disease. The diagnosis is based on clinical grounds. The most characteristic manifestations are the craniofacial configuration, excessive growth, and developmental delay. The diagnosis of a patient with the typical craniofacial configuration and excessive growth can be made at the first site. The craniofacial configuration is the most distinctive, and only rarely (~ 1%), is not present. Ten percent of the children and adolescents may be below +2 SD in height and 10 or 15% of the patients may not have developmental delay. Advanced bone age may be present in 76 to 86% of the patients and is helpful but not specific. Brain abnormalities are present in 60 to 80% of patients, such as communicating hydrocephalous, and others, but are not diagnostic and are non-specific.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:506334", "name_zh": "家族性激素抵抗性肾病综合征伴肾上腺功能不全", "Name": "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency", "disease_name": "Sphingosine Phosphate Lyase Insufficiency Syndrome", "synonyms": "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency", "disease-overview": "Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a very rare genetic condition that affects the kidneys, adrenal glands and nervous system.  Symptoms vary from individual to individual, but most people with SPLIS have signs of abnormal kidney and adrenal gland function, which can include a buildup of extra fluid, vomiting and diarrhea.  Some people with SPLIS have dry, scaly, cracked or darkened skin and problems with their immune system. SPLIS is caused by changes (disease-causing variants) of the sphingosine-1-phosphate lyase 1 gene (SGPL1) and is inherited in an autosomal recessive pattern. SPLIS is diagnosed based on the symptoms, clinical examination and through genetic testing. There is no specific treatment for SPLIS.  Medication and supportive care can help with some of the symptoms. The long-term outlook for people with this disorder is unknown.", "symptoms": "The age of onset is not the same for everyone, but signs and symptoms of SPLIS usually appear in infancy or early childhood. Some people with SPLIS may be more severely affected than others, with the most severe cases of this condition resulting in early fetal death due to excess fluid accumulation. Some of the more common signs and symptoms of SPLIS include:", "causes": "SPLIS is caused by variants in the spingosine-1-phosphate lyase 1 (SGPL1) gene. The protein made by this gene, sphingosine-1-phosphate lyase (SPL) is found in many different organs, including the kidneys, adrenal and other endocrine glands. It is involved in many important processes of cellular function.  SPL is a vitamin B6-dependent enzyme, i.e, it needs vitamin B6 to function.", "affected": "Less than 100 people have been reported in the medical literature with SPLIS.", "related-disorders": "The following conditions have symptoms that can be similar to SPLIS: steroid-resistant nephrotic syndrome, nephrotic syndrome, glomerulosclerosis, primary adrenal insufficiency (Addison’s disease), primary immunodeficiency, Charcot Marie Tooth disease (peripheral neuropathy) and ichthyosis.", "diagnosis": "SPLIS may be suspected based on symptoms and clinical examination. The diagnosis is confirmed by genetic testing that identifies disease-causing variants in both copies of the SGPL1 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:645202", "name_zh": "", "Name": "Spina Bifida", "disease_name": "Spina Bifida", "synonyms": "Neural Tube Defect", "disease-overview": "Spina bifida is characterized by incomplete closure of certain bones of the spinal column (vertebrae), leaving a portion of the spinal cord exposed. Part of the contents of the spinal canal may protrude through this opening. In the most severe form, rachischisis, the opening is extensive. Spina bifida may cause difficulties with bladder control, walking and/or other functions, depending on the severity of associated symptoms.", "symptoms": "Patients with spina bifida have a wide variety of symptoms and physical findings, depending on the extent of the defect in the spine. The mildest form of the condition, spina bifida occulta, causes few if any symptoms, and may go undetected.  In this mild form, the lack of closure of the neural tube affects only a small area of the spine and is found on X-rays. The disorder may be suspected because of a dimple or tuft of hair on the back overlying the affected area.  Impaired bladder control is a common finding, even with relatively mild forms of the condition.", "causes": "The exact cause of spina bifida is not known.  A combination of hereditary and environmental factors may be involved.  Studies have also indicated that a lack of folic acid in the mother’s diet during pregnancy heightens the risk of spina bifida and other neural tube defects.", "affected": "Spina bifida is the most common neural tube defect in the United States. Between 1,500 and 2,000 babies out of about 4 million births are born with this disorder each year in the United States.", "related-disorders": "Spina bifida is usually an isolated birth defect but it can also occur as part of a syndrome with other birth defects.  It is one of a group of disorders known as neural tube defects.", "diagnosis": "", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:140468", "name_zh": "常染色体隐性遗传远端型遗传运动神经病", "Name": "Autosomal recessive distal hereditary motor neuropathy", "disease_name": "Spinal Muscular Atrophy with Respiratory Distress Type 1", "synonyms": "autosomal recessive distal spinal muscular atrophy 1s", "disease-overview": "", "symptoms": "Symptoms of SMARD1 generally begin during infancy. Early features of SMARD1 include a weak cry, feeding problems, difficult and noisy breathing- especially when inhaling (inspiratory stridor) and recurrent pneumonia. Between 6 weeks and 6 months of age, affected infants typically experience sudden onset of shortness of breath with progressive respiratory distress. This is due to paralysis of the diaphragm, (primary inspiratory muscle) and abdomen resulting in ineffective breathing with an increased respiratory rate (tachypnea) and eventual inability to breathe (respiratory failure). Diaphragmatic paralysis can result from a dysfunction of the phrenic nerve that supplies the diaphragm. This paralysis (phrenic nerve palsy) usually starts on the right side although it can affect one or both halves of the diaphragm.", "causes": "SMARD1 is caused by variants (mutations) in the IGHMBP2 gene. Researchers have found more than 60 different mutations in the IGHMBP2 gene that cause SMARD1. The IGHMBP2 gene is responsible for providing instructions necessary for making the IGHMBP2 protein that is involved in DNA replication and production of RNA and proteins. However, the exact role of the IGHMBP2 protein is currently unknown.", "affected": "The exact prevalence of SMARD1 is currently unknown. Studies show that diaphragmatic paralysis affects about 1% percent of individuals diagnosed with early onset spinal muscular atrophy. As of 2015, greater than 60 cases of SMARD1 have been described in scientific literature.", "related-disorders": "Symptoms of the following disorders may have characteristics like SMARD1. Comparing the clinical features of these disorders could be helpful in obtaining an accurate diagnosis.", "diagnosis": "A diagnosis of SMARD1 is based upon the presence of characteristic features. Diagnosis usually follows severe and rapidly progressive respiratory distress caused by diaphragm paralysis, which often requires mechanical ventilation. An abnormally high position of the diaphragm can be indicative of SMARD1 if this occurs with one or more of the following signs: an infant with respiratory distress; family history of sudden infant death syndrome; close familial relation (consanguinity) of parents; and foot and hand muscle weakness and/or distal articular retractions. Genetic testing can detect the presence of mutations in the IGHMBP2 gene and confirm a clinical diagnosis. Further testing- such as an x-ray, electromyogram (EMG), and nerve conduction study (NCS), or muscle biopsy- may be performed to rule out related disorders.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:70", "name_zh": "近端脊髓性肌萎缩", "Name": "Proximal spinal muscular atrophy", "disease_name": "Spinal Muscular Atrophy", "synonyms": "SMA", "disease-overview": "Spinal muscular atrophy (SMA) is a group of inherited neuromuscular disorders characterized by loss of nerve cells in the spinal cord called lower motor neurons or anterior horn cells. Lower motor neurons originate in the brainstem or the spinal cord and relay nerve impulses from upper motor neurons, located in the brain, to the muscles they control. The loss of lower motor neurons leads to progressive muscle weakness, muscle wasting (atrophy) and low muscle tone (hypotonia) that is typically more pronounced in muscles closest to the trunk of the body (proximal muscles) such as the shoulders, hips and back. However, neurons controlling most voluntary muscles can be affected, including those that control muscles involved in feeding, swallowing and breathing.", "symptoms": "The signs and symptoms of SMA are a consequence of lower motor neuron loss. The features of lower motor neuron disease include muscle weakness and atrophy, hypotonia, decreased or absent reflexes (hypo- or areflexia) and twitching of muscle fibers (fasciculations). Although SMA is a disease spectrum, the five subtypes are determined based on their age of symptom onset and maximum motor function achieved. This classification for SMA was established prior to the availability of genetic testing and prior to the availability of disease modifying treatments.", "causes": "SMA is caused by deletion or variant in the SMN1 gene, which encodes a protein known as survival motor neuron (SMN). This protein plays an important role in the functioning and maintenance of motor neurons. Approximately 95-98% of affected individuals have deletions in the SMN1 gene and 2-5% have a point variant in the SMN1 gene that results in a decreased production of the SMN protein.", "affected": "The incidence of SMA is approximately 1 in 10,000 livebirths. SMA affects females and males equally.", "related-disorders": "Symptoms of the following disorders can be similar to those of SMN-related SMA. Comparisons may be useful for a differential diagnosis.", "diagnosis": "https://smartmoves.curesma.org/", "therapies": "The treatment of SMA requires a multidisciplinary team approach and should notably include neurologists, medical geneticists, physical therapists, speech pathologists, pulmonologists, respiratory therapists, medical social workers, nutritionists, psychologists and specialized nurses. There are two main components to SMA management: treatment that slows the progression of the disease (disease-modifying therapy) and therapy that helps manage symptoms and improves quality of life (supportive therapy)."}
{"OrphaCode": "ORPHA:94124", "name_zh": "脊髓小脑性共济失调伴轴索神经病1型", "Name": "Spinocerebellar ataxia with axonal neuropathy type 1", "disease_name": "Spinocerebellar Ataxia with Axonal Neuropathy", "synonyms": "SCAN1", "disease-overview": "Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a neurodegenerative disorder that is inherited in an autosomal recessive pattern. SCAN1 is characterized by late childhood-onset of a slowly progressive cerebellar ataxia, followed by areflexia and signs of peripheral neuropathy. Gaze nystagmus and cerebellar dysarthria usually develop after the onset of ataxic gait. As the disease advances, pain and touch sensation become impaired in the hands and legs; vibration sense disappears in hands and lower thigh. Individuals with advanced disease develop a steppage gait and pes cavus; and later become wheelchair dependent. Affected individuals have normal intellect and longevity.", "symptoms": "SCAN1 is suspected in individuals with the following clinical features:", "causes": "SCAN1 is inherited as an autosomal recessive disorder. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.", "affected": "SCAN1 has been identified in a single Saudi Arabian family. It has not been identified in other ataxic individuals.", "related-disorders": "Partial symptomatic overlap with SCAN1 can be seen in several spinocerebellar ataxias including ataxia oculomotor apraxia 1 (AOA1), ataxia oculomotor apraxia 2 (AOA2), Friedreich ataxia (FRDA) and ataxia with vitamin E deficiency (AVED). AOA1 is characterized by early onset cerebellar ataxia, axonal neuropathy, oculomotor apraxia and chorea or dystonia. Serum concentration of albumin is decreased and total cholesterol is increased. The presence of oculomotor apraxia (80% of individuals with AOA1) differentiates AOA1 from SCAN1; however, this sign is not obvious in the early stages of the disease. AOA1 is caused by mutations of APTX.", "diagnosis": "The diagnosis of SCAN1 is made on history and clinical signs as listed above. DNA testing for mutations in TDP1 is only available on a research basis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2440", "name_zh": "孤立型手足裂畸形", "Name": "Isolated split hand-split foot malformation", "disease_name": "Split HandSplit Foot Malformation", "synonyms": "SHFM", "disease-overview": "Split hand/foot malformation (SHFM) is a limb abnormality that is present at birth. It is characterized by absence of certain fingers and toes (ectrodactyly) that suggest a claw-like appearance and webbing of fingers and toes may also be present. SHFM can be inherited as a single abnormality or as a part of syndrome that includes other characteristics. There is a wide variety of symptoms and genetic causes of SHFM, and there can be varying levels of severity in people who are affected. Severity can vary even among members of the same family.", "symptoms": "Symptom presentation varies from person to person. Most people with SHFM have fewer than five fingers or toes on a hand or foot (oligodactyly). A smaller proportion of individuals affected by SFHM have finger fusing (syndactyly) of multiple fingers on the hands. This is often referred to as the lobster claw variety where the third digit is absent and replaced with a cone-shaped cleft that tapers in toward the wrist and divides the hand into two parts resembling a lobster claw. The remaining fingers or parts of fingers on each side of the cleft are often joined or webbed together. A cleft, or the absence of bones in the hands before the fingers, usually occurs in both hands. A similar deformity commonly occurs in the feet.", "causes": "There are multiple genetic causes (genetic heterogeneity) of split hand/foot malformation which makes it difficult to pinpoint a single causative mutation that leads to the condition.", "affected": "Split hand/foot malformation affects males and females at similar rates, due to the nature of SHFM being inherited in an autosomal dominant, autosomal recessive or X-linked manner. The X-linked SHFM cases typically manifest in males. The total frequency of all SHFM cases is approximately 1 out of every 90,000-100,000 live births, worldwide.", "related-disorders": "This disorder falls under the category of ectodermal dysplasia. Related disorders in this category are characterized by ectrodactyly; the absence of tear ducts; cleft lip and/or palate; and sparse scalp hair, lashes and eyebrows.", "diagnosis": "SHFM is usually diagnosed by physical features present at birth. The presence of abnormal number of toes and finger dysplasia is usually obvious during initial evaluations. Genetic testing for the genes previously discussed is available to further support the initial diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1797", "name_zh": "常染色体显性遗传脊椎肋骨发育不全", "Name": "Spondylocostal Dysplasia", "disease_name": "Spondylocostal Dysplasia", "synonyms": "costovertebral dysplasia", "disease-overview": "", "symptoms": "The signs and symptoms of spondylocostal dysplasia can vary greatly from one person to another, even among members of the same family. Affected individuals have abnormalities in the development of the spine and ribs.", "causes": "Spondylocostal dysplasia is caused by a change (mutation) in one of at least five different genes, specifically the DLL3, MESP2, LFNG, HES7, and TBX6 genes. An altered DLL3 gene is the most common cause. Many people do not have a mutation in any of these genes, suggesting that as-yet-unidentified genes also cause spondylocostal dysplasia. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Spondylocostal dysplasia is a rare disorder. The exact prevalence or incidence of the disorder is unknown. Because it is a rare disorder, some people may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population. Spondylocostal dysplasia affects both men and women, and is seen in all ethnic groups (panethnic).", "related-disorders": "Symptoms of the following disorders can be similar to those of spondylocostal dysplasia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of spondylocostal dysplasia is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:93284", "name_zh": "迟发性脊椎骨骺发育不良", "Name": "Spondyloepiphyseal Dysplasia Tarda", "disease_name": "Spondyloepiphyseal Dysplasia Tarda", "synonyms": "SED tarda", "disease-overview": "", "symptoms": "Young boys with SEDT do not typically show signs of the condition and have otherwise normal height and body proportions until the age of 6 to 8 years old. Around this time, symptoms of the disorder begin to develop, hence the word tarda in SEDT which refers to the later onset of this condition.", "causes": "SEDT is caused by changes (mutations) in a gene on the short arm of the X chromosome at Xp22.2-p22.1. The gene, known as SEDL or TRAPPC2, is widely expressed in tissues throughout the body, but mutations in this gene appear to only affect cartilage. Mutations have been found to be distributed throughout the gene [Gedeon et al., 2001]. The TRAPPC2 gene encodes the instructions for a protein product called sedlin, which is thought to help transport proteins within the cell. There are no other disorders linked to TRAPPC2.", "affected": "SEDT affects individuals of many different ancestral groups. Individuals with SEDT have been reported in European, American, Asian and Australian populations (but not in populations of African ancestry to date). SEDT is estimated to occur in 2 persons per million.", "related-disorders": "Symptoms of the following disorders can be similar to those of spondyloepiphyseal dysplasia tarda. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of SEDT is usually made through radiological findings (X-ray), but a diagnosis can also be made through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:94068", "name_zh": "先天性脊柱骨骺发育不良", "Name": "Spondyloepiphyseal dysplasia congenita", "disease_name": "Spondyloepiphyseal Dysplasia, Congenital", "synonyms": "SEDC", "disease-overview": "", "symptoms": "The specific symptoms and severity of spondyloepiphyseal dysplasia congenita can vary greatly from one person to another. Affected individuals may not have all of the symptoms discussed below. In most cases, certain symptoms are noticeable at birth (congenital).", "causes": "Spondyloepiphyseal dysplasia congenital is caused by a mutation in the COL2A1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "Males and females are affected in equal numbers. The exact incidence or prevalence is unknown, but spondyloepiphyseal dysplasia congenita is estimated to occur in approximately 1 in 100,000 live births. Collectively, the skeletal dysplasias are estimated to occur in approximately 1 in 5,000 individuals in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of spondyloepiphyseal dysplasia congenita. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of spondyloepiphyseal dysplasia congenita is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be suspected at birth because of characteristic findings.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:443180", "name_zh": "自发性颅内低压", "Name": "Spontaneous intracranial hypotension", "disease_name": "Spontaneous Intracranial Hypotension", "synonyms": "spontaneous spinal cerebrospinal fluid leak", "disease-overview": "", "symptoms": "The onset of symptoms and signs may be relatively abrupt or more gradual. Patients may be minimally affected or profoundly disabled with limited ability to function while upright. Quality of life measures in this population are very poor. The hallmark of intracranial hypotension is a positional headache. This headache is worse when upright and improves when lying down. It usually occurs within 15 minutes of assuming the upright position and is relieved after lying down within 15-30 minutes, however it may take hours to worsen or improve with change of position. Over time, the positional aspect of the headache tends to lessen and may even disappear. Headache is not universally positional and may be absent. The location of the headache is most often in the back of the head or base of the skull, but can also occur in the front, sides or all over the head. The headache is rarely on just one side of the head. The quality of the headache is often described as a pulling sensation from the back of the head to the neck although many other qualities are reported. The severity of the headache can range from mild to very severe and disabling.", "causes": "The underlying cause of spontaneous intracranial hypotension is a loss of cerebrospinal fluid (CSF) volume through a hole or tear in the spinal dura. The dura is the tough outermost layer of the meninges (connective tissues that surround the brain and spinal cord) that holds in the CSF. When this fluid volume is reduced, there is less fluid available to cushion the brain inside the skull. This loss of CSF volume is thought to cause headache and other neurological signs and symptoms and may result in a range of complications. With upright posture, the loss of CSF volume has a greater effect on the brain.", "affected": "Males and females of any age may develop spontaneous intracranial hypotension, but it is diagnosed more often in females. The peak age of diagnosis is age 40.", "related-disorders": "In addition to spontaneous cases, intracranial hypotension may also occur as a result of medical procedures such as a lumbar puncture, epidural injection, over-drainage of CSF shunts or spinal or other surgery. It may also occur as a result of an injury, such as a motor vehicle accident, sports injury or penetrating trauma. Cases related to medical procedures and injuries are usually more readily identified than cases of spontaneous intracranial hypotension.", "diagnosis": "The diagnosis of spontaneous intracranial hypotension is initially suspected based on presenting signs and symptoms. Many physician specialties may be involved in the care of patients, including primary care physicians, emergency medicine physicians, neurologists, neuroradiologists, pain management physicians, anesthesiologists, neurosurgeons and geneticists.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:611", "name_zh": "包涵体肌炎", "Name": "Inclusion body myositis", "disease_name": "Sporadic Inclusion Body Myositis", "synonyms": "sIBM", "disease-overview": "Sporadic inclusion body myositis (sIBM) is an acquired progressive muscle disorder that becomes apparent during adulthood. The symptoms and progression of sIBM vary from one person to another. In most cases, sIBM is characterized by progressive weakness and degeneration (atrophy) of the muscles especially those of the arms and the legs. sIBM can progress to cause severe disability. sIBM is an autoimmune disease mediated by cytotoxic T cells, but the exact cause of the disorder is unknown. sIBM, like all autoimmune diseases, is a complex disorder and, most likely, multiple factors including genetic, immunological and environmental ones in combination all play a role in its development.", "symptoms": "The distribution, severity and progression of muscle weakness vary from one person to another. In some patients, sIBM may affect one arm or leg more than the other. In most cases, the progression is very slow. The muscles of the anterior thighs (quadriceps) and wrist and finger flexors are usually affected more severely than other muscles. Many individuals with sIBM first present with a tendency to trip or fall or with difficulty with handgrip, or with difficulty swallowing.", "causes": "The cause of sIBM is unknown and complex. Researchers believe multiple immunological, genetic and environmental factors and factors related to aging all play a role in the development of the disorder. Researchers have identified two distinct processes – one autoimmune and one degenerative – that occur in individuals with sIBM. It appears likely that autoimmunity drives the disease and accounts for the minor degenerative pathological changes seen in sIBM skeletal muscle.", "affected": "sIBM affects males slightly more often than females. Its prevalence is estimated to be between 10-112 people per 1,000,000 in the general population. It occurs with greater frequency in individuals more than 50 years of age. The prevalence is estimated to be 51-139 per 1,000,000 individuals in the general population over 50, making sIBM the most common acquired muscle disorder (myopathy) in that age group. Despite growing awareness of this disorder, many researchers believe it remains underdiagnosed.", "related-disorders": "Symptoms of the following disorders can be similar to those of sIBM. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of sIBM is made based upon a thorough clinical evaluation, a careful patient history, and a variety of specialized tests, such as a muscle biopsy. A muscle biopsy is a procedure in which a tiny amount of muscle tissue is surgically removed and studied under a microscope to detect characteristic changes that indicate sIBM. Additional tests that can be used to aid in a diagnosis include electromyography and blood tests that measure the amount of certain enzymes in muscle tissue. A blood test specifically for IBM was developed in 2013 and is now commercially available for diagnostic use.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3181", "name_zh": "高位肩胛", "Name": "Sprengel deformity", "disease_name": "Sprengel Deformity", "synonyms": "Congenital Elevation of the Scapula", "disease-overview": "Sprengel deformity is a rare congenital disorder in which the shoulder blade (scapula) is too high on one side of the body. The affected abnormal shoulder blade is also abnormally connected to the spine, often restricting movement of the shoulder. The affected shoulder blade may also be underdeveloped and smaller than normal and rotated toward the middle of the body. In some cases, the shoulder blade may be irregularly-shaped (dysplastic). In addition, a lump may develop at the base of the neck. Sprengel deformity can occur as an isolated, single defect or in association with other abnormalities. The disorder is typically present at birth (congenital), although it may not become apparent until an affected individual grows older. The exact, underlying cause of Sprengel deformity is unknown. The disorder appears to occur randomly, for no apparent reason (sporadically), although some rare cases have run in families.", "symptoms": "Often, only one shoulder blade (i.e. one side of the body) is affected. However, in some cases both shoulder blades can be affected. Generally, these abnormalities tend to be painless. The degree of elevation and displacement in Sprengel deformity can vary greatly from one person to another and can range from very mild, in which the abnormality cannot be seen when wearing clothes, to severe cases in which the shoulder is noticeably elevated. Milder cases can go undiagnosed until adolescence. The reported range of displacement of the shoulder blade is 2-10 centimeters, or approximately a half an inch to 4 inches.", "causes": "The exact underlying cause is unknown. Most cases occur randomly, for no apparent reason (sporadically).", "affected": "Most reports in the medical literature state that Sprengel deformity affects females more often than males by a ratio of 3-1. However, other reports state that the disorder affects males and females in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to those of Sprengel deformity. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Scoliosis is a common condition in which the spine abnormally curves to the side instead of running straight up and down. Scoliosis can be mild, but can worsen as an affected child grows. In many cases, the exact cause of scoliosis is unknown (idiopathic). In other cases, the condition can develop as part of a large syndrome such as muscular dystrophy. Affected children may have uneven shoulders, one shoulder blade that appears to be more pronounced or prominent than the other, and uneven hips. Some children may experience backaches or lower back pain.", "therapies": "The mainstay of treatment for Sprengel deformity is surgery. However, many affected individuals will not require surgical intervention because they have a mild form of the disorder with minimal restriction of movement. Children between 3-8 years of age are the best candidates for surgical intervention, which is based on significant cosmetic or functional (i.e. significant restriction of movement) concerns. In some cases, shoulder blade position and/or shoulder range of motion can still be abnormal even after surgery. The presence of additional abnormalities can affect the outcome of surgery. An omovertebral bone or its fibrous equivalent must be removed during surgery."}
{"OrphaCode": "ORPHA:36236", "name_zh": "葡萄球菌性烫伤样皮肤综合征", "Name": "Staphylococcal scalded skin syndrome", "disease_name": "Staphylococcal Scalded Skin Syndrome", "synonyms": "Ritter Disease", "disease-overview": "Staphylococcal scalded skin syndrome (SSSS) is a disorder that develops because of a toxin produced by a staphylococcal infection. A toxin is a harmful substance that causes disease when it enters tissues of the body. In SSSS the toxin spreads to the skin through the blood stream and specifically binds to desmoglein 1, an adhesion molecule target protein very high in the epidermis (outer layer of the skin) producing total body reddening of the skin and blistering and sloughing of the skin resembling a hot water burn or scalding of the skin. The top layer of the skin may peel off and shed. Affected individuals may also experience nonspecific symptoms such as fever (usually low grade), chills and weakness. Unlike similar disorders that cause a scalded skin appearance, the mucous membranes are not affected. Infants and younger children are most susceptible, because they lack antibodies to the toxin and may be slow to clear the toxin-antibody complex in their immature kidneys, but the disorder can also occur in certain older children or adults such as people who have compromised immune systems or insufficient kidney (renal) function. Staphylococcal scalded skin syndrome is caused by toxins produced by certain strains (most commonly phage group 2 strains 55 and 71) of the bacterial germ Staphylococcus aureus.", "symptoms": "Initial symptoms can include fever (usually low grade), generalized redness and tenderness of the skin. The onset of symptoms is usually rapid. Some individuals may experience nonspecific symptoms that develop before the skin symptoms including a sore throat and inflammation of the eyelids known as conjunctivitis.", "causes": "Staphylococcal scalded skin syndrome is caused by a Staphylococcus or Staph infection. Staphylococcus is a type of bacterium of which there are more than 30 different varieties. Staphylococcus aureus is the most common form associated with disease. Staphylococcus aureus is commonly found on human skin and begins colonization immediately after birth. Usually, this bacterium resides on the skin and mucous membranes of humans but does no harm. However, it does predispose an individual to infection, especially when given the opportunity to break through the skin. Staphylococcus aureus is the underlying infection in individuals with staphylococcal scalded skin syndrome. However, in many healthy children no underlying bacterial infection can be detected clinically.", "affected": "Staphylococcal scalded skin syndrome affects males and females in equal numbers. The incidence, which has doubled in the last decade (based on national hospitalization data), is estimated to be between .09 and .56 per 1,000,000 individuals in the general population. However, these estimates may reflect cases reported in the medical literature, and the disorder most likely is more common in the United States than estimated, particularly in infants and young children. Most cases are in children under the age of 6. Newborns (neonates) are at particular risk because they do not have fully developed immune systems, do not have neutralizing antibodies for the toxin, and their kidneys cannot fully clear toxins from the body yet. For similar reasons certain adults, specifically adults with a compromised immune system or poor kidney function, are at a greater risk than the general population of developing the disorder.", "related-disorders": "Symptoms of the following disorders can be similar to those of staphylococcal scalded skin syndrome and should be differentiated from SSSS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of staphylococcal scalded skin syndrome is based upon identification of characteristic symptoms, a thorough clinical evaluation and a detailed patient history. Although not usually necessary, in some cases, a skin biopsy, in which a tiny piece of affected skin is removed and studied under a microscope, may be performed. A biopsy can reveal non-inflammatory superficial splitting of the epidermis, which is indicative of the disorder and can differentiate it from similar disorders.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:90038", "name_zh": "志贺毒素相关性溶血性尿毒症综合征", "Name": "STEC Hemolytic Uremic Syndrome", "disease_name": "STEC Hemolytic Uremic Syndrome", "synonyms": "classic hemolytic uremic syndrome", "disease-overview": "The hemolytic uremic syndrome is defined by the sudden occurrence of acute hemolytic anemia with fragmented red blood cells, low levels of platelets in the blood (thrombocytopenia), and acute kidney injury. Hemolytic uremic syndrome is a general term that covers five main subtypes STEC (typical), atypical hemolytic uremic syndrome [complement dysregulation], Sp HUS (Streptococcal pneumonia associated HUS) and metabolic causes of HUS. This report covers STEC (typical) hemolytic uremic syndrome, which is most often associated with E. coli infection and bloody diarrhea. NORD has a separate report on the rarer atypical hemolytic uremic syndrome, which is not caused by infection with E. coli and is often the result of a genetic mutation.", "symptoms": "The symptoms and severity of STEC HUS vary greatly from one person to another. The disorder can be mild or it can progress to cause life-threatening complications. Most children with STEC HUS recover without permanent damage; however, about a small percent recover with complications. Chronic complications include chronic kidney disease, proteinuria, hypertension, diabetes mellitus, gall stones, neurological deficits.", "causes": "In most people, STEC HUS occurs in association with infection by a particular strain of (E. coli) known as O157:H7. In a recent European outbreak, the strain was O104:H4 and there were 4320 people with bloody diarrhea, 850 people with HUS and 82 deaths. The bacterium may reside in the intestinal tract of domestic animals, mainly cattle, and may be transmitted to humans through the consumption of unpasteurized milk or infected, undercooked meat or poultry. Cases have been reported in which STEC HUS occurred after the consumption of unpasteurized or otherwise untreated apple juice or cider. Epidemics have followed ingestion of contaminated lettuce, spinach or bean sprouts. It is important to note that transmission may be the result of person-to-person contact within a family or at a kindergarten or an infected wading pool.", "affected": "STEC HUS affects males and females in equal numbers. Some studies have suggested that the disorder affects females more severely than males. It can affect children or adults, but is more common in children under 10, especially children between 7 months and 6 years of age. STEC HUS is the most common cause of acute renal failure in children. STEC HUS is estimated to occur in 1-3 per 100,000 people in the general population. The incidence rate of E. coli infection in North America is estimated to be 8 in 100,000 people in the general population. Fortunately, only 5 to 15 percent of individuals infected with E. coli progress to develop STEC HUS.", "related-disorders": "Symptoms of the following disorders can be similar to those of STEC HUS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of STEC HUS may be suspected upon identification of characteristic findings. STEC HUS should be suspected in anyone, especially young children who develop sudden acute renal failure, anemia and thrombocytopenia after an episode of gastroenteritis with bloody diarrhea.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:95455", "name_zh": "Stevens-Johnson综合征/中毒性表皮坏死松解症", "Name": "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum", "disease_name": "Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis", "synonyms": "epidermal necrolysis", "disease-overview": "", "symptoms": "Most cases of SJS/TEN begin with the development of general, non-specific symptoms including flu-like symptoms, fever, burning or stinging of the eyes, body aches and discomfort or difficulty swallowing. Additional non-specific symptoms include headaches, chills, joint pain and a general feeling of poor health (malaise). A pus-producing (purulent) cough that also brings up mucous, phlegm and saliva (sputum) may also occur. These symptoms ​usually ​precede the development of skin involvement by a few days and​ characteristically ​happen ​​​one to eight​​ weeks after exposure to the trigger.", "causes": "SJS and TEN are life-threatening reactions that are predominantly drug-induced. Approximately 75% of SJS and TEN cases are caused by medications, but this percentage varies according to age, with a higher percentage in adults and a lower percentage in children. The drugs most associated with these disorders include allopurinol, a drug commonly used to treat gout or kidney stones; anti-convulsants (anti-epileptics) including phenytoin, carbamazepine, lamotrigine and phenobarbital; sulfonamide medications; antibiotics such as minocycline; nonsteroidal anti-inflammatory drugs (NSAIDs)​​; anti-HIV medications such as nevirapine and anti-tuberculosis (TB) medications. In the last few years, multiple new anticancer treatments were developed and have also been recognized as an important trigger for adverse drug reactions. Various other drugs have been reported as triggers of SJS and TEN, ​​​and almost any medication can cause SJS/TEN, including over-the-counter medications and herbal/natural preparations.", "affected": "SJS and TEN can affect individuals of any age, but the incidence is much higher in the elderly population. This may be related to increased exposures to potentially causative medications. Individuals of every race and ethnicity can develop these disorders​; however, it is more common in Asian populations​. ​The incidence in western societies is 1-2 per 1,000,000 people in the general population.", "related-disorders": "Disorders with similar symptoms include:", "diagnosis": "There are no specific blood tests yet to diagnose SJS/TEN. The diagnosis is based upon identification of characteristic signs and symptoms, a detailed history from the patient and/or relatives, a thorough physical examination and the results of blood tests and a skin biopsy. A biopsy involves taking a small sample of affected skin and examining it under a microscope. An additional skin biopsy for immunofluorescence (special staining) may also be performed to exclude other conditions such as autoimmune blistering disorders which may have similar manifestations to SJS/TEN, especially early on (please see list above).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:828", "name_zh": "Stickler综合征", "Name": "Stickler syndrome", "disease_name": "Stickler Syndrome", "synonyms": "hereditary arthro-ophthalmopathy", "disease-overview": "Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, can affect multiple organ systems. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial features and palate abnormalities.", "symptoms": "Stickler syndrome type I (STL1) is responsible for approximately 70% of reported cases and presents with a wide variety of symptoms affecting the eye, ear, facial appearance, palate and musculoskeletal system and occurs due to mutations over the entire COL2A1 gene on chromosome 12q13.11. These mutations cause loss of function of the COL2A1 gene. The majority of these mutations are associated with normal stature and early onset osteoarthritis. Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate and these mutations cause some unusual disorders which may be described as Stickler-like but have short stature and brachydactyly. The inheritance pattern for Stickler syndrome type I is autosomal dominant.", "causes": "Most cases of Stickler syndrome occur in families with other members that also have Stickler syndrome, due to a familial mutation of a gene inherited as an autosomal dominant trait. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.", "affected": "Stickler syndrome affects males as well as females. Prevalence rates have been estimated at 1-3 per 10,000 births and at 1 per 7,500 births. Most investigators believe that the disorder is highly under-diagnosed, making it difficult to determine the true prevalence of Stickler syndrome in the general population. Stickler syndrome is one of the most common connective tissue disorders in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Stickler syndrome.", "diagnosis": "A diagnosis of Stickler syndrome is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. As yet, no universally agreed upon criteria for the diagnosis of Stickler syndrome exists. A variety of tests such as x-ray studies and eye examinations may be used to detect the presence or evaluate the severity of certain abnormalities potentially associated with Stickler syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3198", "name_zh": "僵人综合征", "Name": "Stiff person spectrum disorder", "disease_name": "Stiff Person Syndrome", "synonyms": "Moersch-Woltman syndrome", "disease-overview": "Stiff person syndrome (SPS) is a rare acquired neurological disorder that most often causes progressive muscle stiffness (rigidity) and repeated episodes of painful muscle spasms. Muscular rigidity often fluctuates (i.e., grows worse and then improves) and usually occurs along with the muscle spasms. Spasms may occur randomly or can be triggered by a variety of different events or circumstances including a sudden noise, light physical contact or when exposed to cold. The severity and progression of SPS varies from one person to another. If left untreated, SPS can potentially progress to cause difficulty walking and significantly impact a person’s ability to perform routine, daily tasks. Although the exact cause of SPS is unknown, it is thought to be an autoimmune disorder and sometimes occurs along with other autoimmune disorders (e.g., thyroid disease, diabetes, pernicious anemia [b12 deficiency], and vitiligo).", "symptoms": "The characteristic symptoms associated with SPS are progressive, fluctuating muscular rigidity that occurs along with muscle spasms. The severity and progression of SPS can vary from one person to another. The symptoms usually develop over a period of months to years and may remain stable for many years or slowly worsen. In some people, symptoms can be stabilized or improved through medication and non-medication interventions. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall treatment plan.", "causes": "The exact cause of SPS is not known. Some studies in the medical literature indicate that it is likely an autoimmune disorder. Autoimmune disorders occur when the body’s natural defenses (e.g., antibodies) against foreign or invading organisms begin to attack healthy tissue for unknown reasons.", "affected": "SPS is an extremely rare disorder. The exact incidence and prevalence of SPS is unknown, although one estimate places the incidence at approximately 1 in 1,000,000 individuals in the general population. However, this estimate likely does not account for the expanding clinical spectrum. The distribution of SPS between males and females indicates a female predominance. SPS usually becomes apparent sometime between 30-60 years of age. However, SPS has been reported to occur in children and older adults (>60 years old) as well. It appears that SPS can also affect any race and ethnicity.", "related-disorders": "Symptoms of the following disorders (not complete list) can be similar to those of SPS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of SPS is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical examination. Diagnostic tests are used to help support a clinical diagnosis and very importantly, to help rule out other conditions. Such tests include lab work (blood and spinal fluid) to detect the presence of antibodies against GAD-65, amphiphysin (which is most often associated with paraneoplastic SPS) and glycine receptor. Electromyography (EMG) can be helpful in individuals who have musculoskeletal involvement. This test records electrical activity in skeletal (voluntary) muscles at rest and during muscle contraction. An EMG can demonstrate continuous muscle activity in stiff muscles along with co-contraction of agonist and antagonist muscles. Muscle relaxers like diazepam will suppress the characteristic findings on EMG.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:423776", "name_zh": "遗传性胃癌", "Name": "Stomach Cancer", "disease_name": "Stomach Cancer", "synonyms": "adenocarcinoma of the stomach", "disease-overview": "Stomach cancer is a general term for cancer affecting the stomach. Generally, it refers to cancer that arises from the cells lining the stomach. These cells, like all cancerous cells, exhibit abnormal and rapid growth. Early in the course of the disease there are usually no symptoms (asymptomatic). As the disease progresses, symptoms like indigestion, nausea, vomiting, and feeling full earlier than normal (early satiety) may develop. The cause of stomach cancer is multifactorial, which means that multiple factors that occur together are necessary for the cancer to develop. These factors can include genetic, immunologic, infectious, and environmental factors. Stomach cancer usually develops randomly for unknown reasons (sporadically), and there is usually no family history.", "symptoms": "The signs and symptoms can vary greatly from one person to another. Specific findings depend on numerous factors including the exact location of the tumor, the extent of the tumor into nearby tissue or organs, the specific organs involved, and whether the disease has remained localized or spread to other areas of the body (metastasized). Stomach cancer is a slow-growing cancer that usually develops over a year or longer.", "causes": "The exact, underlying cause of stomach cancer is not fully understood. The reason why cancer develops is a complex question and researchers speculate that multiple factors are involved in the development of gastric cancer. These factors can include genetic, environmental, infectious, and immunologic factors.", "affected": "There are about 28,000 people diagnosed with stomach cancer in the United States each year. It affects men more often than it does women, and about 75% of people are over the age of 50. Most people are diagnosed between 60-80 years of age. By some estimates, stomach cancer is the second most common cancer worldwide. Stomach cancer can affect people of all races and ethnic groups but occurs with greater frequency in individuals of African or Hispanic heritage and Native Americans. Worldwide, stomach cancer is more common in East Asia, Eastern Europe, and South America.", "related-disorders": "Symptoms of the following disorders can be similar to those of stomach cancer. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of stomach cancer is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Because stomach cancer does not usually cause symptoms in the early stages of the disease, it is often not diagnosed until the disease is advanced. There is no screening program for stomach cancer in the United States or Europe, although there are programs in other countries including Japan and Korea.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3205", "name_zh": "Sturge-Weber综合征", "Name": "Sturge Weber Syndrome", "disease_name": "Sturge Weber Syndrome", "synonyms": "Dimitri disease", "disease-overview": "", "symptoms": "SWS is a highly variable disorder. Some individuals may develop characteristic skin abnormalities, but no neurological abnormalities. Less often, individuals develop neurological abnormalities without the characteristic skin issues. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that every individual patient is unique. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "SWS is usually caused by a somatic mutation in the GNAQ gene. This genetic mutation is a somatic mutation because it occurs after fertilization of the embryo; in the case of SWS, mutation most likely occurs at an early stage of embryonic development. By definition, a somatic mutation can occur in any cell of the body except the sex cells (sperm and egg). Affected individuals will have some cells with a normal copy of the gene and some cells with the abnormal gene (mosaic pattern). This may be referred to as having two distinct cells lines in the body. The variability of symptoms associated with SWS is due, in part, to the ratio of healthy cells to abnormal cells in the body and the types of cells that are affected. Somatic mutations are not inherited and are not passed on to children. Researchers think that somatic mutations of the GNAQ gene occur randomly for no apparent reason (sporadically).", "affected": "SWS affects males and females in equal numbers. The exact incidence and prevalence is unknown. One estimate places the incidence at 1 in 20,000-50,000 live births. Approximately 3 in 1,000 babies are born with a port-wine birthmark, but only approximately 6% of individuals with a port-wine birthmark on the face develop the neurological abnormalities associated with SWS. The risk increases to 20-50% when the port-wine birthmark is on the forehead, temple region or upper part of the face. SWS can affect individuals of any race or ethnicity.", "related-disorders": "Symptoms of the following disorders can be similar to those of SWS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of SWS is based upon identification of characteristic symptoms (e.g. port-wine birthmark), a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A diagnosis may be straightforward in an infant with a port-wine birthmark, glaucoma, evidence of cerebral involvement and neuroimaging findings consistent with a diagnosis of SWS. Diagnosis can be more difficult in infants who have a port-wine birthmark, but no neurological symptoms. Early imaging in infants has low sensitivity and needs to be repeated after a year to exclude SWS brain involvement.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3206", "name_zh": "St³ve-Wiedemann综合征", "Name": "Stüve-Wiedemann syndrome", "disease_name": "Stuve-Wiedemann Syndrome", "synonyms": "STWS", "disease-overview": "", "symptoms": "The symptoms of STWS vary from person to person. Most infants develop characteristic skeletal abnormalities including permanent flexion of fingers or toes (camptodactyly) outward away from the thumb (ulnar deviation) and bowing of the long bones of the arms and legs (camptomelia), which results in short stature. Affected infants may also have underdeveloped muscle tone (hypotonia) and/or an elbow that is permanently fixed in a bent or flexed position (elbow contracture). Some children with STWS have distinctive facial features, including a small chin (micrognathia), pursed mouth, and underdeveloped upper jaw, cheekbones, and eye sockets (midface hypoplasia) that sometimes results in protruding eyes.", "causes": "STWS is caused by changes (variants or mutations) in the leukemia inhibitory factor receptor (LIFR) gene. Variants in this gene may cause the complete absence of the LIFR protein or the production of a non-functional LIFR protein. LIFR gene variants ultimately affect the JAK/STAT 3 signaling pathway. This pathway is one of the many signaling pathways involved in human development, involving many different cytokines and growth factors. Of note, not all reported individuals have a LIFR gene variant, indicating that not all of the STWS-causing genes have been identified.", "affected": "STWS has a very low prevalence of <1 out of 1,000,000. However, the disease is relatively common in the United Arab Emirates with a prevalence of 1 out of 20,000 births. STWS affects males and females in equal numbers. Patients with STWS often go unrecognized, making it difficult to determine the true frequency of the disorder in the general population. STWS was first described in the medical literature in 1971.", "related-disorders": "Symptoms of the following disorders can be similar to those of STWS. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Crisponi syndrome is a rare autosomal recessive genetic disorder  and is characterized by muscular contractions, episodic or continuous hyperthermia, abnormal facial features and camptodactyly. Facial differences include large, round faces with a broad nose and long philtrum. Patients also have hypotonia. Children affected with this syndrome start to exhibit symptoms at birth. Infants have shortness of breath, periods of no breathing (apnea), decreased oxygen causing the babies to turn blue-ish (cyanosis) and continuous hyperthermia, which differs from a fever in that there is no infection. These factors can lead to sudden death. Crisponi syndrome has only been documented in 30 patients, all from Italian families.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:623626", "name_zh": "Paraneoplastic cerebellar degeneration", "Name": "Paraneoplastic cerebellar degeneration", "disease_name": "Subacute Cerebellar Degeneration", "synonyms": "", "disease-overview": "", "symptoms": "Common symptoms of SCD include:", "causes": "Paraneoplastic cerebellar degeneration may potentially be an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses against invading organisms mistakenly attack healthy tissue for unknown reasons. It may also be an abnormal response to cancer. In cases where there is an underlying cancer, the individual’s immune system may react to the cancer by stimulating the body’s natural defense mechanisms. These natural defense mechanisms include producing antibodies, which are proteins that help the immune system detect harmful substances, and increase the number of T-cells, which are white blood cells that destroy infected cells and tumors. These antibodies and T-cells normally target only the cancerous tumors; however, in paraneoplastic cerebellar degeneration, these antibodies bind to and attack normal cells in the nervous systems, such as Purkinje cells in the cerebellum, leading to their death and loss of function. Purkinje cells are cells specifically found in the cerebellum that gather multiple signals throughout the brain to control motor movements.", "affected": "In paraneoplastic cerebellar degeneration, the average age of onset is 50 years, with females affected more often than males. This form of cerebellar degeneration may precede cancer, however <1% of patients with cancer have paraneoplastic cerebellar degeneration. Alcoholic or nutritional cerebellar degeneration affects alcoholics and people with thiamine deficiency. In alcoholic cerebellar degeneration, symptoms usually occur in middle aged individuals who have a history of chronic alcohol abuse.", "related-disorders": "Symptoms of the following disorders can be similar to those of SCD. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Paraneoplastic neurologic syndromes (PNS) are a group of conditions that affect the nervous system (brain, spinal cord, nerves and/or muscles) in patients with cancer. The term paraneoplastic means that the neurological syndrome is not caused by the tumor itself, but by the immunological reactions that the tumor produces. PNS are categorized by the area of the nervous system that is principally affected, the type of symptoms or the type of immunological response. (For more information on these disorders, choose paraneoplastic neurologic syndromes as your search term in the Rare Disease Database.)", "therapies": "Standard therapeutic options for paraneoplastic cerebellar degeneration include diagnosing and treating the underlying cancer. Prompt tumor removal, chemotherapy and/or radiation may be beneficial and help reduce symptoms in patients. Adjuvant therapy with glucocorticoids such as methylprednisolone and immunotherapy with potent T cell inhibition, such as rituximab and tacrolimus may be elusive. However, small cases have shown both rituximab and tacrolimus may help to stabilize symptom progression in patients with paraneoplastic cerebellar degeneration only. For alcoholic/nutritional cerebellar degeneration, thiamine is given along with other B vitamins, usually relieving the condition if the patient stops drinking alcohol and resumes a normal diet. Physical therapy with focus areas on strengthening, balance and gait balance can help to restore function and prevent long term disability in patients with progressive symptoms. Occupational therapy may focus mainly on activities of daily living and dysphagia rehabilitation."}
{"OrphaCode": "ORPHA:2806", "name_zh": "亚急性硬化脑白质炎", "Name": "Subacute sclerosing leukoencephalitis", "disease_name": "Subacute Sclerosing Panencephalitis", "synonyms": "Dawson's Disease", "disease-overview": "Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral changes, leading to neurological deterioration.", "symptoms": "Subacute sclerosing panencephalitis is a rare neurological disease of childhood or young adulthood.  The first signs are usually behavioral changes such as failing schoolwork, memory loss, and/or irritability.  Involuntary muscle movements (myoclonic jerks) and generalized seizures follow.  Subacute sclerosing panencephalitis is a progressive disease which results in personality changes, outbursts of temper, sleeplessness, disorientation, stupor, spasticity, loss of previously acquired intellectual skills, poor memory and judgment (dementia), and general neurological deterioration. Blindness may develop because of a lesion in the vision center of the brain (cortical blindness) and the nerves of the eyes may waste away (optic atrophy).  The late symptoms of subacute sclerosing panencephalitis may include muscle rigidity, elevated body temperature (hyperthermia) and/or abnormalities of respiration, heartbeat, and blood pressure.  These disturbances of normal bodily functions (homeostasis) indicate that the hypothalamus gland, which is located deep inside the brain, may be affected.", "causes": "Subacute sclerosing panencephalitis is thought to be caused by a slow measles virus (paramyxovirus).  Slow viruses may stay dormant in humans for extended periods of time, then for reasons yet unknown may become reactivated.  The role of heredity which may make a person susceptible to slow viruses is not well understood.", "affected": "With widespread uss of the measles vaccine in the United States, the incidence of subacute sclerosing panencephalitis has been reduced dramatically, although about 10 cases per year are reported. However, in less developed parts of the world, this disorder is much more common.  In India, for example, the incidence is estimated at about 20 cases per year per million of population.  Subacute sclerosing panencephalitis seems to affect males more often than females and occurs far more often in children and adolescents than in adults.", "related-disorders": "Symptoms of the following disorders can be similar to those of subacute sclerosing panencephalitis.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Progressive rubella panencephalitis is a rare slowly progressive neurological disorder that closely resembles subacute sclerosing panencephalitis.  It is caused by the rubella virus and develops because of congenital rubella syndrome or childhood rubella infection (German measles). Symptoms usually include behavioral changes, the loss of previously acquired intellectual skills, inability to coordinate movement (ataxia), involuntary muscle movements (spasticity), and/or seizures.  There is no known treatment for this disorder.  Fewer than 20 cases have been reported in the medical literature.", "therapies": "The diagnosis of subacute sclerosing panencephalitis may be confirmed by clinical evaluation and blood testing that reveals abnormally high levels of the measles antibody. Examination of the electrical activity of the brain (EEG) usually shows a characteristic pattern. The fluid surrounding the brain and spinal cord (cerebrospinal fluid) typically has elevated levels of gammaglobulin and measles antibody."}
{"OrphaCode": "ORPHA:22", "name_zh": "琥珀酸半醛脱氢酶缺乏症", "Name": "Succinic semialdehyde dehydrogenase deficiency", "disease_name": "Succinic Semialdehyde Dehydrogenase Deficiency", "synonyms": "4-hydroxybutyric aciduria", "disease-overview": "", "symptoms": "In individuals with SSADH deficiency, the range, severity, and presentation of certain symptoms and findings may be variable, including among affected family members. In addition, such neurological and neuromuscular symptoms are often considered nonspecific, meaning that they may be associated with any number of underlying disorders, potentially leading to difficulties with diagnosis. (For further information, please see the Standard Therapies: Diagnosis section of this report below.) However, during childhood, most affected individuals appear to have some degree of delays in the development of certain physical, mental, and behavioral skills that are typically acquired at particular stages (i.e., developmental milestones).", "causes": "SSADH deficiency is a rare inborn error of metabolism that is inherited in an autosomal recessive pattern. Metabolism refers to all the chemical processes in the body, including the breakdown of complex substances into simpler ones (catabolism), usually with the release of energy, and processes in which complex substances are built up from simpler ones (anabolism), usually resulting in energy consumption. Inborn errors of metabolism result from abnormal functioning of a specific protein or enzyme that accelerates particular chemical activities in the body.", "affected": "SSADH deficiency appears to affect males and females relatively equally. Since the disorder was originally described in 1981 (C. Jakobs), over 400 cases of SSADH deficiency have been identified. According to one review published in 1997 reporting 23 affected individuals (from 20 families), the age at diagnosis ranged from three months to 25 years. Most affected individuals were of Turkish, American Caucasian, Indian, and Northern European descent. Additional nationalities were also noted, including Korean, Palestinian, Syrian, Pakistani, Saudi, Chinese, and Inuit descent. A recent review of adult cases included one with long-standing intellectual disability diagnosed with SSADH deficiency at 63 years old when he had a progressive decline of function and increased seizures.", "related-disorders": "Symptoms of the following conditions may be similar to those of SSADH deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of SSADH deficiency is usually made after birth (postnatally) during infancy or childhood (or, in some cases, adulthood), based upon a thorough clinical evaluation, identification of characteristic physical findings, and a variety of specialized tests. Due to the nonspecific nature and variability of associated symptoms, experts suggest that SSADH deficiency should be considered in any individuals with two or more features of intellectual, language, and motor delay and abnormally diminished muscle tone (hypotonia) of unknown cause (idiopathic). Specialized testing to confirm a diagnosis of SSADH deficiency typically includes studies (i.e., quantitative organic acid analysis in an appropriate specialist laboratory) that may detect increased concentrations of 4-hydroxybutyric acid (4-HBA) in urine (i.e., 4-hydroxybutyric aciduria) and testing to confirm deficient activity of the SSADH enzyme in white blood cells (leukocytes) isolated from whole blood. (Note: As mentioned above, increased concentrations of 4-HBA may also be detected in plasma and cerebrospinal fluid. In addition, deficient SSADH activity has also been demonstrated in certain cells other than leukocytes.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:168593", "name_zh": "婴儿猝死伴睾丸发育不良综合征", "Name": "Sudden Infant Death Syndrome", "disease_name": "Sudden Infant Death Syndrome", "synonyms": "cot death", "disease-overview": "Sudden infant death syndrome (SIDS) is the sudden death of an infant under the age of 1 year that remains unexplained after careful review of the history, death scene investigation, and thorough autopsy. In 2008, the most recent published data from the National Vital Statistics System indicated that SIDS was listed as the third leading cause of death in infants in the United States. Causes of SIDS are considered to be multifactorial. The triple risk hypothesis describes the presence of three risk factors that, when overlapping, predispose a baby to SIDS. These include an environmental trigger/stress, a critical developmental period, and an underlying vulnerability. Physician-scientists and scientists are studying neuropathological tissue and genetic material from SIDS victims to ascertain factors that might be responsible for heightening an infant’s vulnerability to SIDS. Others are performing physiologic studies on infants known to have an increased risk for SIDS. Basic scientists are studying animal models that might provide insight into mechanisms responsible for SIDS. Current clinical management targets improving education for families and caregivers regarding known modifiable environmental stressors (risk factors) (see below).", "symptoms": "There are typically no symptoms prior to a SIDS death. Though SIDS occurs during sleep, the deaths may occur during day or night time sleep. Existing literature does not indicate any evidence for suffering by the infant in the moments preceding the sudden death.", "causes": "By definition, the cause of SIDS is unknown. Therefore, the existing research addresses modifiable environmental risk factors, neuropathological and genetic factors that may predispose to SIDS, potential physiologic markers in at-risk infants, and animal modeling.", "affected": "SIDS can affect all infants under 1 year of age. Most deaths occur less than 6 months of age with the peak affected age between 2 and 4 months. Gender, ethnic and racial differences also exist. For example, boys are at greater risk for SIDS than girls. Also, the SIDS rate in African American infants is 2.7 times greater than the Caucasian rate in the US. Likewise, SIDS rates are increased in the American Indians and Alaskan natives as compared to Caucasians. These differences may reflect both cultural practices and genetic variations.", "related-disorders": "There is not necessarily a definitive relationship between the following disorders and SIDS. They are often considered in the same context because of the similarity in terms of life threatening events and/or sudden death.", "diagnosis": "SIDS is a diagnosis of exclusion which means that it is only determined as the cause of death after thorough investigation of clinical history, scene of death, and autopsy reveal no other cause.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:247245", "name_zh": "浅表肺沉着病", "Name": "Superficial siderosis", "disease_name": "Superficial Siderosis", "synonyms": "superficial siderosis of the central nervous system", "disease-overview": "", "symptoms": "hearing loss, movement abnormalities (ataxia) and motor difficulties due to suspected spinal cord injury (myelopathy) with pyramidal signs. Proper recognition and timely early diagnosis of superficial siderosis allow for early care planning.", "causes": "Superficial siderosis is an acquired disorder caused by chronic long-term subarachnoid bleeding. A large percentage of the identifiable bleed sources are abnormalities resulting from recurring brain bleeds (chronic suboccipital hematomas), sacs protruding from the spinal column (meningoceles) or spinal surgery tears resulting in pseudomeningoceles. Other causes include root avulsions or epidural cyst removal, intradural cranial surgery, brain tumors, vascular abnormalities, fragile capillary regrowth after brain surgery, nerve damage (brachial plexus injury), head injury or bone marrow exposed to the spinal (intrathecal) space.", "affected": "Superficial siderosis affects all races and age groups, with males affected three times more often than females. The prevalence of superficial siderosis is estimated to be 1 in one million individuals. As of 2024, there are an estimated 300 diagnosed cases in the U.S. Diagnoses are increasing due to improved MRI techniques and neuro-radiologist awareness. The actual incidence of superficial siderosis is suspected to affect a larger population than is currently diagnosed.", "related-disorders": "Due to overlapping similarities, superficial siderosis is most often misdiagnosed as multiple sclerosis, Parkinson’s disease or multiple system atrophy.", "diagnosis": "The average time from the clinical manifestation of early symptoms such as ringing of the ears (tinnitus), complaints of dizziness, or reports of phantom odors to the diagnosis of superficial siderosis may be as long as 17 years, partly due to the slow progression of the disease. Clinical investigation of patient complaints should be reviewed against the long-term medical history focusing on previous surgical procedures, aneurysm, traumatic contusions or accidents occurring as long as thirty to forty years in the past with older patients.", "therapies": "The first step after a diagnosis is determining if a bleed source is present. A cause is not identified for a large percentage of patients. A CT myelogram is the preferred method to determine the location of a suspected bleed due to dural defect. The three suggested approaches for stopping a bleed are injection of fibrin glue into the dural tear site; for small leaks, an epidural blood patch may pull the dura from surrounding bone and immobilize the spinal cord long enough for healing to take place. Surgical closure of dural defects or other active bleed sites offers the best opportunity to stop additional hemosiderin deposition."}
{"OrphaCode": "ORPHA:622099", "name_zh": "", "Name": "Superior mesenteric artery syndrome", "disease_name": "Superior Mesenteric Artery Syndrome", "synonyms": "aortomesenteric artery compression", "disease-overview": "", "symptoms": "The signs and symptoms can vary greatly from one person to another. Sometimes the symptoms are mild and build slowly over time. Without treatment, in some people, symptoms can be severely disabling. Generally, the initial symptoms are nonspecific, which means that symptoms are common ones that can be associated with many different conditions. Sometimes symptoms can come and go (intermittent).", "causes": "SMA syndrome occurs when the duodenum is compressed by the SMA against the AA to cause blockage and prevent progression of food or fluids into the rest of the small intestine. The small intestine is a long, winding tube that connects the stomach to the large intestine ending in the anus. The small intestine is divided into three sections – duodenum, jejunum and ileum. Each section has a role in digestion and absorption of nutrients that were previously digested in the stomach.", "affected": "The prevalence (the number of people with a disease or disorder in a given population at a given time) is unknown. The most frequently quoted estimate is that 0.13 to 0.3% of people in the United States general population have this disorder. SMA syndrome has been reported in greater frequency among teenagers and young adults but can occur at any age including infants and the elderly.  It seems to affect more women than men by 3:2 ratio. SMA syndrome can affect individuals of any racial or ethnic heritage hence it is worldwide. It is likely that some people with SMA syndrome have not been diagnosed so the true prevalence may be higher than reported.", "related-disorders": "There are many conditions that can cause signs and symptoms similar to SMA syndrome like peptic ulcer disease, gall bladder disease (gallstone disease or dysfunction known as biliary dyskinesia) irritable bowel disease, inflammation of the duodenum (duodenitis), visceral neuropathy, cyclic vomiting syndrome and inflammation of the pancreas (pancreatitis). Disorders that cause duodenal dysmotility including diabetes, vascular collagen disorder and chronic mesenteric ischemia can also resemble SMA syndrome. Median arcuate ligament syndrome (MALS) or celiac steal syndrome can mimic SMA syndrome.", "diagnosis": "A diagnosis of SMA syndrome is based on the identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. A team approach to diagnosis is essential and may include a primary care physician (pediatrician, internist or general practitioner), gastroenterologist, surgeon (pediatric or general), radiologist, nutritionist or dietician, pain specialist, and psychologist or psychiatrist. It is a diagnosis of exclusion hence a period of observation and trial of therapy may be required before a definitive diagnosis is made. Delay in the diagnosis and treatment worsens the condition and can lead to a fatal outcome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:420402", "name_zh": "半规管裂隙综合征", "Name": "Superior Semicircular Canal Dehiscence", "disease_name": "Superior Semicircular Canal Dehiscence", "synonyms": "superior semicircular canal dehiscence syndrome (SCDS)", "disease-overview": "Superior semicircular canal dehiscence (SSCD) has been defined as the absence of bone overlying the superior semicircular canal facing toward the dura of the middle cranial fossa. SSCD has been implicated as the cause of a variety of inner ear symptoms including Tullio’s phenomenon, pressure induced vertigo, aural fullness, autophony, conductive hearing loss and fluctuating or progressive sensorineural hearing loss. SSCD has also been reported to be asymptomatic in some people. In the past, many patients with SSCD were misdiagnosed as having otosclerosis, patulous eustachian tubes, middle ear perilymphatic fistulas or Ménière’s disease. Identification of this condition requires a high degree of suspicion, appropriate findings on physical exam, lab testing and confirmation on high-resolution CT scan. Surgical repair of the SSCD or occlusion of the superior canal has been reported with a high degree of symptom resolution.", "symptoms": "SSCD has been labelled the great otologic mimicker because it can simulate the symptoms of so many other ear disorders. However, the most common symptoms are vertigo/dizziness elicited by pressure altering activity, Tullio’s phenomenon (sound-induced vertigo), fullness/pressure in the ear and autophony. Autophony is hearing internal noises louder than would be expected, such as hearing your eyes move/blink, heartbeat or joint movements. Hearing loss and fluctuating hearing loss can occur, mimicking otosclerosis or Meniere’s disease. Fullness in the ear and hearing your breathing loudly in the ear are symptoms of patulous eustachian tube but can also be found with SSCD. Finally, most patients with the anatomic defect of superior semicircular canal dehiscence have no symptoms at all for some time prior to developing symptoms.", "causes": "The anatomic defect of SSCD is believed to be a developmental anomaly of the temporal bone in the vast majority of cases. At birth, the bone over the top of the inner ear, which is the floor of the middle cranial fossa, is very thin or absent. Over the first three years of life, this bone thickens considerably. However, this is variable and approximately 20% of the population is left with holes in the middle fossa floor that extend into the middle ear or mastoid. These are typically free of any symptoms unless intracranial pressure causes the brain to prolapse through one of these holes – an event typically not seen until the latter decades of life. Approximately 1-2% of the population will be left with a defect of the bone over the superior semicircular canal resulting in SSCD. However, this usually does not cause symptoms until later in life.", "affected": "SSCD can affect all age groups. There are no studies looking at the demographics of SSCD, however, the vast majority of patients diagnosed with SSCD are adults. Although the incidence of finding SSCD on a scan is the same for adults and children, the incidence of symptomatic SSCD in children is much lower.", "related-disorders": "Dehiscence of bone in other parts of the otic capsule can produce similar syndromes, although they are much less common. Other locations include the posterior semicircular canal, the horizontal semicircular canal and cochlea. Posterior semicircular canal dehiscence is often due to a high riding jugular bulb but can also been seen with anomalies of the vestibular aqueduct, such as enlarged vestibular aqueduct syndrome (EVAS). EVAS, by itself can also produce symptoms similar to SSCD. Horizontal semicircular canal dehiscence is most frequently the result of an eroding process such as cholesteatoma. The cochlea can have bony dehiscence where it abuts the carotid artery and at the labyrinthine segment of the facial nerve. Lastly, the bony opening where the hearing nerve enters the cochlea (at the internal auditory canal) can be abnormally wide, resulting in symptoms similar to SSCD.", "diagnosis": "There are three essential elements to make the diagnosis of SSCD:", "therapies": "Because the condition of SSCD is still fairly new (identified in 1998), it could be argued that all treatments are considered experimental or investigational. However, the most frequently employed are surgical. Surgery for SSCD has included resurfacing the defect with a variety of materials, plugging the superior semicircular canal and a combination of resurfacing and plugging. These techniques can be done through a transmastoid or a middle fossa craniotomy approach. These techniques have found great success in reducing or eliminating the vestibular symptoms of SSCD. These techniques are also effective in reducing or eliminating autophony but they have not been effective in improving hearing. A lesser approach that seems to give similar benefits is reinforcement of the middle ear windows. This surgery has the advantage of being a more minimally invasive procedure, but the success rate seems to be much lower with a higher recurrence rate in the long term."}
{"OrphaCode": "ORPHA:838", "name_zh": "Susac综合征", "Name": "Susac syndrome", "disease_name": "Susac Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "The specific symptoms, severity, and outcome of Susac syndrome vary from one person to another. Commonly, the three main features (encephalopathy, branch retinal arterial occlusions and hearing loss) are not all present at disease onset, and all three do not necessarily develop in all patients. When patients are first evaluated by a physician, any one of the three main features may be the only feature present, with one or both of the other features appearing only later. The skin may also be involved, and the symptoms may include livedo reticularis and a diffuse micropapular rash.", "causes": "Susac syndrome is an autoimmune endotheliopathy, a disorder in which the body’s immune system mistakenly attacks the inside lining (endothelium) of the walls of the very tiny blood vessels that supply blood to the brain, retina and inner ear. The exact, underlying reason why this occurs is unknown. Why the microvasculature in the brain, retina, and inner ear are primarily affected is also unclear. The skin may also be involved.", "affected": "Susac syndrome primarily affects young women between the ages of 20-40 but has occurred in individuals ranging in age from 9 to 72. Women are affected three times more often than men. Although considered a rare disorder, Susac syndrome is being recognized more often worldwide and may be more common than originally thought. However, because the disorder often goes unrecognized or misdiagnosed, determination of the true frequency of Susac syndrome in the general population has been difficult.", "related-disorders": "The encephalopathic form of Susac syndrome is frequently misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM). When Susac syndrome presents primarily with hearing loss, tinnitus, and vertigo, it is frequently misdiagnosed as Meniere disease.", "diagnosis": "The possibility of Susac syndrome is raised when a patient presents with one or more components of the clinical triad (encephalopathy, BRAO, hearing loss). A diagnosis of definite or probable Susac syndrome is based on the presence of at least two components of the triad and documentation of typical snowball lesions in the corpus callosum upon brain MRI. The process of making a diagnosis includes a detailed patient history, a thorough evaluation of all plausible explanations for the illness and a variety of specialized tests including magnetic resonance imaging (MRI), fluorescein angiography and an audiogram.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3243", "name_zh": "Sweet综合征", "Name": "Sweet syndrome", "disease_name": "Sweet Syndrome", "synonyms": "Acute Febrile Neutrophilic Dermatosis", "disease-overview": "Sweet syndrome is a rare disorder characterized by fever and the sudden onset of a rash, which consists of multiple tender, red or bluish-red bumps or lesions. These lesions usually occur on the arms, legs, trunk, face or neck. In some cases, additional systems of the body can become involved including the musculoskeletal system such as inflammation of the joints (arthritis), the eyes such as inflammation of the conjunctiva or the membrane that lines the eyes (conjunctivitis), and the internal organs. In the majority of affected individuals, the disorder occurs by itself for no known reason (idiopathic Sweet syndrome); this is also known as classical Sweet syndrome. Less often, the disorder can be associated with an underlying cancer (malignancy), usually a blood (hematologic) cancer such as certain types of leukemia; this is known as malignancy-associated Sweet syndrome. The disorder can also result as a reaction to taking certain drugs, especially a drug known as granulocyte-colony stimulating factor; this is known as drug-induced Sweet syndrome. Sweet syndrome is treated with corticosteroids.", "symptoms": "The major symptom of Sweet syndrome is the sudden onset of tender or painful bumps (nodules or papules) on the arms, legs, face or neck. They may also occur on the thighs and trunk. Papules are solid, raises lesions; nodules are slightly larger and may extend deeper into the skin. These initial lesions are usually several millimeters to centimeters in diameter, but sometimes up to an inch in diameter, flat or slightly elevated, irregularly-shaped, and inflamed. They tend to grow slowly, eventually joining together (coalescing) to form larger, irregular plaques. Small pus-filled blisters (pustules) may develop.", "causes": "The exact cause of Sweet syndrome is not fully understood. Most likely, the disorder results from multiple, complex factors including immunological, and environmental factors. Some researchers speculate that Sweet syndrome occurs as an allergic reaction (reactive process) to an unknown agent. In such instances, there is an oversensitive, or hypersensitivity, reaction by the immune system to a specific agent such as a bacterial or viral infection, cancer or certain type of drug.", "affected": "Classical Sweet syndrome in adults affects women more often than men by as much as 15:1 by some estimates. This female preponderance has not been seen in malignancy-associated or drug-induced Sweet syndrome. Classical Sweet syndrome usually affects women between the ages of 30-50, but can be seen in individuals of any age including children. There is no gender predominance seen in children. Several hundred individuals of Sweet syndrome have been reported in the medical literature. Only approximately 80 children have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Sweet syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pyoderma gangrenosum is a rare skin disorder of unknown origin. Major symptoms include small pustules that develop into large ulcers at various sites on the body. Skin abnormalities associated with pyoderma gangrenosum are slowly growing, purple-colored lesions with an undermined border and an irregular base of pus and decaying tissue. The ulcers most frequently develop on the legs but they may appear on the trunk, head and neck, scrotum and in the mucous membranes (mucosa). (For more information on this disorder, choose pyoderma gangrenosum as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:242", "name_zh": "46，XY完全性腺发育不全", "Name": "46,XY complete gonadal dysgenesis", "disease_name": "Swyer syndrome", "synonyms": "46, XY CGD", "disease-overview": "", "symptoms": "Most individuals with Swyer syndrome do not experience any outward symptoms until their early teens when they fail to begin having a period (primary amenorrhea). At this point, it is usually discovered that these girls lack ovaries and, therefore, do not have sex hormones (estrogen or progesterone) that are required to undergo puberty. When hormone replacement therapy is started, these girls will develop enlarged breasts, underarm and pubic hair, regular menstrual cycles and other aspects of normal development during puberty.", "causes": "In most cases of Swyer syndrome, the exact cause of the disorder is unknown. Researchers believe that disruptions or changes (mutations) of a gene or genes that are involved in normal sex differentiation of a fetus with an XY chromosomal makeup cause Swyer syndrome.", "affected": "Swyer syndrome affects girls who have an XY chromosomal makeup, no ovaries, but functional female organs including the uterus, fallopian tubes and vagina. The exact incidence is unknown. One estimate placed the incidence at 1 in 80,000 births. Another estimate placed the incidence of Swyer syndrome (complete gonadal dysgenesis) and partial gonadal dysgenesis combined at 1 in 20,000 births. Genital anomalies in general occur in approximately 1 in 4,500 births.", "related-disorders": "Symptoms of the following disorders can be similar to those of Swyer syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Swyer syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings (e.g., no periods, streak gonads) and a variety of tests including chromosomal analysis. For example, a specific technique called fluorescent in situ hybridization (FISH) can be used to determine a person’s karyotype. A karyotype is a visual representation of a person’s chromosomal makeup, (i.e., the 46 chromosomes in a cell). These 46 chromosomes are broken down into 22 matched pairs (each pair has one chromosome received from the father and one receive from the mother). The sex chromosomes are seen as a separate pair, either XX or XY. A diagnosis of Swyer syndrome is usually made when young adults are tested for delayed puberty.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:306731", "name_zh": "Sydenham舞蹈病", "Name": "Sydenham Chorea", "disease_name": "Sydenham Chorea", "synonyms": "rheumatic chorea", "disease-overview": "", "symptoms": "The severity of chorea and the presence of non-chorea symptoms of Sydenham chorea may vary greatly from one person to another. Most cases follow an identifiable streptococcal infection. Streptococcus is a group of bacteria that can cause several different infections, most commonly strep throat – often presenting with a sore throat (pharyngitis) or fever. Symptoms of Sydenham chorea may appear anywhere from 1 week to 6 months following streptococcal infection.", "causes": "Sydenham chorea is believed to be an autoimmune disorder. Most cases develop following a streptococcal infection or more severe rheumatic fever. An autoimmune disorder occurs when the body’s immune system mistakenly reacts against healthy tissue. In Sydenham chorea, streptococcal infection induces the body’s immune system to produce antibodies to combat the infection. For unknown reasons, these antibodies persist and subsequently target certain cells in the joints, kidneys, heart, and, in the brain, specifically cells of the basal ganglia (a key part of the brain for controlling motor movements). Researchers believe this ultimately leads to the characteristic symptoms of Sydenham chorea.", "affected": "According to most studies, Sydenham chorea affects girls more often than boys. It usually develops in children between the ages of 5-15. Rarely, the disorder has been reported in children under age 5 years or in adults. Sydenham chorea affects individuals of all races and ethnicities.", "related-disorders": "Symptoms of some other disorders can be similar to those of Sydenham chorea. While Sydenham chorea should be suspected as the most likely cause of acute chorea in children, there are other conditions doctors should consider as well.", "diagnosis": "A diagnosis of Sydenham chorea is made based upon identification of new onset choreic movements, a detailed patient history, and a thorough clinical evaluation. In the presence of new onset chorea, which is uncommon in childhood, the documentation of a prior streptococcal infection through throat swabs and/or the current presence of high blood titers of streptococcal antibodies (ASO, anti DNAseB) is useful, as are identification of co-occurring arthritis or cardiac valve abnormalities. In some cases, certain imaging techniques such as magnetic resonance imaging (MRI) may be recommended to exclude other causes. Usually, brain imaging is normal in Sydenham chorea. Of note, because the onset of Sydenham chorea usually occurs weeks after the infection, the characteristic signs of rheumatic fever or streptococcal infection are usually no longer present.", "therapies": "Secondary Prevention"}
{"OrphaCode": "ORPHA:662198", "name_zh": "", "Name": "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome", "disease_name": "SYNCRIP-Related Neurodevelopmental Disorder", "synonyms": "SYNCRIP-RNDD", "disease-overview": "SYNCRIP-related neurodevelopmental disorder (SYNCRIP-RNDD) is a rare disorder characterized by developmental delay/intellectual disability, autism spectrum disorder, motor speech delay and low muscle tone (hypotonia). This condition is caused by changes (variants) in the SYNCRIP gene which is also known as the HNRNPQ gene.", "symptoms": "SYNCRIP-RNDD is characterized by developmental delay/intellectual disability, motor and speech delay, hypotonia and behavioral differences. Cognitive disabilities are typically in the mild to borderline intellectual disability range. Autism spectrum disorder is common. Some structural brain anomalies have been observed but are not consistent. Some affected individuals have had seizures and physical differences have been reported in some patients.", "causes": "SYNCRIP-RNDD is caused by pathogenic or likely pathogenic variants in the SYNCRIP (also known as HNRNPQ) gene. Most variants are loss-of-function and result in a nonfunctional protein product that leads to half of the necessary amount of SYNCRIP/hnRNPQ protein for normal cellular function (haploinsufficiency). Missense and insertion/deletion (indel) variants are rarer but have been reported more frequently with increased genomic testing. To date, all variants reported in the medical literature are de novo, which means that they occurred for the first time in the affected person and were not inherited from a parent.", "affected": "SYNCRIP-RNDD has been described all over the world and is not population specific.", "related-disorders": "SYNCRIP-RNDD is in the group of conditions called HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs). These include HNRNPC-RNDD, HNRNPG (RBMX)-RNDD (also referred to as Gustavson syndrome and Shashi-type intellectual disability), HNRNPH1-RNDD, HNRNPH2-RNDD, Au-Kline syndrome (due to variants in HNRNPK), HNRNPR-RNDD and HNRNPU-RNDD). Several other HNRNP genes are being studied.", "diagnosis": "SYNCRIP-RNDD may be suspected based on the signs and symptoms associated with the disorder. The diagnosis is confirmed with genomic testing that shows a pathogenic or likely pathogenic variant in the SYNCRIP gene.", "therapies": "Standard therapies have not been described for SYNCRIP-RNDD. Multidisciplinary care is recommended and includes management of multiple subspecialty appointments, equipment, medications and supplies. Ongoing assessment for palliative care involvement and/or home nursing is needed."}
{"OrphaCode": "ORPHA:3280", "name_zh": "脊髓空洞症", "Name": "Syringomyelia", "disease_name": "Syringomyelia", "synonyms": "hydromyelia", "disease-overview": "", "symptoms": "The specific symptoms and severity of syringomyelia can vary greatly from one person to another. Some individuals may not have any noticeable symptoms (asymptomatic); others may have a variety of symptoms that can progress to cause significant disability. It is important to note the highly variable nature of syringomyelia and to realize that affected individuals can have different sets of symptoms and a different rate of progression (or no progression of the disease at all).", "causes": "The exact, underlying reason for the formation of a syrinx is unknown. Most theories implicate the obstruction or disruption of the flow of cerebrospinal fluid (CSF) as the most common cause. CSF is a clear fluid that surrounds and is within the brain and surrounds the spinal cord. CSF has several functions including protecting and cushioning the brain and giving the brain buoyancy. CSF is also found in the central canal, a small canal that runs through the center of the spinal cord in infants. The central canal eventually collapses over time.", "affected": "Syringomyelia most commonly presents in young adults between 20 and 40 years of age, but can also develop in young children or older adults. Some reports suggest that syringomyelia is slightly more common in males than females. One estimate places the incidence at 8.4 individuals per 100,000 in the general population in the United States.", "related-disorders": "Chiari malformations are commonly associated with syringomyelia. They are a group of complex brain abnormalities that affect the area in lower back of the skull where the brain and spinal cord connect. Chiari malformations are thought to be present at birth (congenital), although in many cases, the symptoms that they cause may not become apparent until adulthood. In extremely rare cases, a Chiari malformation may be acquired during life. The exact cause of Chiari malformations is not known, but often the cavity near the base of the skull (posterior cranial fossa) is abnormally small in relation to the size of the cerebellum, which this portion of the skull encloses. Researchers believe that in some cases, the small posterior cranial fossa may cause the developing brain, specifically the cerebellum and the brainstem, to be pushed downward. Part of the cerebellum (known as the cerebellar tonsils) may protrude (herniate) through the foramen magnum, which is the normal opening found in the occipital bone at the base of the skull. The tonsils thus interfere with the flow of cerebrospinal fluid (CSF) from the skull into the spinal canal. A Chiari malformation can also cause hydrocephalus (pressure due to excessive cerebrospinal fluid accumulation in the brain), potentially causing a wide variety of symptoms. The severity of Chiari malformations can vary dramatically as well. Some affected individuals may not develop any symptoms (asymptomatic); in others, severe, potentially debilitating or life-threatening symptoms can develop. Traditionally, Chiari malformations have been defined and classified by how much of the cerebellum and other parts of the posterior cranial fossa protrude through the foramen magnum. A diagnosis of a Chiari type I malformation usually signifies that the cerebellar tonsils protrude below the foramen magnum (often cited as at least 5 millimeters). Researchers have determined that the length of tonsil descent in a Chiari malformation does not always correspond to the severity of symptoms or to the response to treatment. In fact, some individuals are classified as having Chiari malformation type 0. These individuals make up a very small percent of the Chiari population and are defined as having minimal or no descent of the cerebellar tonsils and syringomyelia that improves after surgical treatment at the base of the skull. Chiari type II malformations are seen only in patients with spina bifida. There is also herniation of the cerebellum through the foramen magnum but instead of the cerebellar tonsils, the cerebellar vermis is herniated. Syringomyelia is also very common in patients with the Chiari II malformation. Research is ongoing to understand the complex, underlying mechanisms that cause Chiari malformations. (For more information on this disorder, choose Chiari as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of syringomyelia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. In some cases, syringomyelia is discovered incidentally when a person is being evaluated for another reason.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:188", "name_zh": "系统性毛细血管渗漏综合征", "Name": "Systemic capillary leak syndrome", "disease_name": "Systemic Capillary Leak Syndrome", "synonyms": "Clarkson Syndrome", "disease-overview": "Introduction", "symptoms": "Symptoms of SCLS usually involve a brief warning, which can include nasal congestion and cough that might be associated with a viral upper respiratory infection. Patients may develop malaise, nausea, lightheadedness, a faint feeling, abdominal pain, headache and swelling of extremities. Fever, chills, rash, or signs of infection may be absent.  Patients may also exhibit elevated white blood cell count (leukocytosis) which may produce a false diagnosis when blood is tested. Spontaneous resolution of symptoms is uncommon without treatment.", "causes": "The cause of SCLS is not yet known, but there appears to be no hereditary predisposition for the condition. Most patients have a monoclonal or M protein detected in the blood, and these patients are designated as having monoclonal gammopathy associated systemic capillary leak syndrome (MG-CLS) or Clarkson disease. The level of M protein is usually low. The M protein is produced by plasma cells in the marrow. The role of the M protein in acute attacks is unknown. Many possible explanations for the production of M protein in SCLS patients have been suggested including an autoimmune mechanism in which the immune system mistakenly attacks the body. Recently it has been suggested that capillary lining cells may be damaged by a factor in the blood which is produced during the acute attack.", "affected": "There are less than 500 patients with MG-CLS reported in the world literature since its first description in 1960 by Clarkson. Although most clinical studies were performed in Caucasians, MG-CLS has been recognized in a range of racial backgrounds and nationalities. MG-CLS occurs equally in males and females. Most diagnoses are made at the median age of 48 years of age. The disease may be more frequent than the literature suggests because the diagnosis is often missed or delayed.", "related-disorders": "Symptoms of the following disorders may be similar to those of systemic capillary leak syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "MG-CLS may be mistaken for a severe infection such as septic shock or toxic shock syndrome. Some features such as swelling may lead to a suspected diagnosis of heart failure or kidney disease. C-1 esterase inhibitor deficiency syndrome may present with a type of recurring edema called angioedema and is often thought of in patients presenting with MG-CLS. In some patients, the hemoconcentration and resulting high hematocrit and hemoglobin level have been mistaken for polycythemia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:158", "name_zh": "系统性原发性肉碱缺乏症", "Name": "Systemic primary carnitine deficiency", "disease_name": "Systemic Primary Carnitine Deficiency", "synonyms": "carnitine transporter deficiency", "disease-overview": "", "symptoms": "CDSP can present in three ways. Infants with the infantile metabolic (hepatic) type present in the first two years of life with episodes of irritability, tiredness and abnormal enlargement of the liver (hepatomegaly). Laboratory results show hypoglycemia with little to no ketones in urine (hypoketotic hypoglycemia), high levels of ammonia in the blood hyperammonemia), and elevated liver transaminases. Some children with the infantile presentation may also have symptoms of muscle disease.", "causes": "CDSP is caused by mutations in the CLC22A5 gene, resulting in absent or dysfunctional OCTN2 protein. Normally, this protein functions to reabsorb carnitine in kidneys and transport carnitine inside cells.  If the protein is absent or abnormal, there is a shortage of carnitine in cells. Carnitine functions to carry fatty acids obtained through diet to the energy centers in muscle cells (mitochondria). A deficiency of carnitine results in an inability to utilize fat leading to hypoglycemia and the accumulation of fats in the liver, muscle, and heart.", "affected": "CDSP is a rare disorder that affects males and females in equal numbers. Based on newborn screening and reports in medical literature, the prevalence in the US is estimated to be 1:50,000.", "related-disorders": "Symptoms of the following disorders can be similar to those of systemic primary carnitine deficiency. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Carnitine deficiency can occur as a result of other metabolic disorders (secondary carnitine deficiency) such as organic acidemias and fatty acid oxidation defects.", "therapies": "The main treatment for CDSP is L-carnitine supplementation, which is very effective if started before organ damage occurs. Hypoglycemic episodes associated with carnitine deficiency are treated with intravenous dextrose infusion or proper feeding and diet. Maintaining normal carnitine levels through supplementation and preventing hypoglycemia through frequent feeding and diet can prevent the metabolic, hepatic, cardiac, and muscular complications of CDSP."}
{"OrphaCode": "ORPHA:90291", "name_zh": "系统性硬化症", "Name": "Systemic sclerosis", "disease_name": "Systemic Scleroderma", "synonyms": "systemic sclerosis", "disease-overview": "Systemic scleroderma is a disease characterized by rapid growth of fibrous (connective) tissue that leads to scarring of skin and internal organs. Approximately one in 10,000 individuals is affected. It is more common in women and most often develops around age 30 to 50. Systemic scleroderma can affect almost any organ in the body, and there is a large variability of symptoms among affected individuals. One of the most common and earliest manifestations of the disease is Raynaud phenomenon, which involves blood vessel spasms (vasospasms) induced by cold temperature or stress. This can lead to temporary finger discoloration, numbness and pain and is also associated with the development of finger ulcers. Of note, Raynaud phenomenon also commonly occurs in healthy individuals. Other manifestations of systemic scleroderma include muscle and joint pain, skin tightening, and dilated blood vessels that can be seen through the skin (telangiectasias). Scarring of internal organs can also lead to gastrointestinal, pulmonary, cardiac, and renal disease. Although systemic scleroderma cannot be cured, many of the symptoms can be treated. A timely diagnosis is important to ensure appropriate management of the disease and associated complications.", "symptoms": "Systemic scleroderma can affect multiple organ systems and therefore lead to numerous symptoms and complications. The symptoms present, their severity, the rate of progression of the disease, the response to treatment, and overall survival vary widely depending on the affected individual. In most cases, people start to develop symptoms between age 30 and 50. Symptoms related to the different organs involved are described below.", "causes": "Although the exact cause and disease mechanism of systemic scleroderma are not known, it is thought to occur in genetically predisposed individuals following a trigger, possibly exposure to virus or toxins. Systemic scleroderma is an autoimmune disease, which means that it involves a dysregulated immune system that attacks the affected individual’s own body. The first event to occur is possibly injury to small blood vessels (microvascular injury). In healthy individuals, response to injury leads to recruitment of inflammatory mediators that facilitate repair. In individuals with systemic scleroderma, microvascular injury leads to disproportionate inflammatory mediator recruitment and excessive fibrous tissue deposition. This fibrous tissue can replace healthy tissue and lead to symptoms of systemic scleroderma such as skin thickening, internal organ scarring and associated complications.", "affected": "Systemic scleroderma affects between 38 and 341 individuals per million throughout the world (prevalence) and develops in 8 to 56 individuals per million each year (incidence). It is more common in populations from southern Europe, North America and Australia, and less common in populations from northern Europe and Japan. The disease most often starts to manifest in the fifth decade of life (age of onset). Although it most commonly occurs in women, men tend to have more severe disease. African American individuals tend to have a lower age of onset, higher rates of the diffuse cutaneous subtype, and overall more severe disease.", "related-disorders": "Symptoms of the following disorders may be similar to those of systemic scleroderma. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Localized scleroderma (also known as morphea) is characterized by skin symptoms similar to those seen in systemic scleroderma but without internal organ involvement. It is considered a disease distinct from systemic scleroderma.", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:66529", "name_zh": "应激性心肌病", "Name": "Tako-Tsubo cardiomyopathy", "disease_name": "Takotsubo Cardiomyopathy", "synonyms": "takotsubo syndrome", "disease-overview": "", "symptoms": "Takotsubo cardiomyopathy can occur in adults of any age, but most often develops in elderly women. The most common symptoms are the abrupt (acute) onset of crushing chest pain and difficulty breathing (dyspnea). Anxiety, sweating (diaphoresis), nausea, vomiting, palpitations, and transient loss of consciousness (syncope) can also occur.", "causes": "The mechanism by which takotsubo cardiomyopathy develops in not entirely understood. In about 2/3 of cases, the disease is preceded by intense emotional stress (such as divorce, death of a loved one, or bankruptcy) or physical stress (such as a stroke, fracture, or infection). A hypothesis is that these stressors lead to the release of large amounts of adrenaline (epinephrine) and other stress-related hormones collectively known as catecholamines. This surge of hormones might lead to spasms of the blood vessels and disruption of the ventricles of the heart, which would be responsible for the ventricular dysfunction and ballooning seen in takotsubo cardiomyopathy.", "affected": "Takotsubo cardiomyopathy can develop in men and women of any age and ethnic background. However, about 90% of affected individuals are women, and 80% are women over the age of 50. The exact frequency of the disease is not known and might be underestimated, but is thought to comprise approximately 2% of all individuals (and up to 5% of women) with suspected ST-segment elevation myocardial infarction, which is the most severe type of heart attack. This represents more than 4000 individuals in the United States.", "related-disorders": "Angina is a condition caused by limitation of blood flow to the heart. It is usually caused by partial obstruction of the arteries that feed the heart (coronary arteries) by a fatty plaque (atheroma), but can also rarely be caused by spasms of the arteries (vasospastic angina). Angina is usually triggered by exercise or stress and is relieved by rest, except in the case of vasospastic angina, which occurs at rest. The main symptom of angina is chest pain, which patients usually describe as a squeezing, pressure, or tightness. It is often accompanied by difficulty breathing (dyspnea), sweating (diaphoresis), nausea, and anxiety. Angina that occurs at rest, lasts longer than before, becomes more frequent, or becomes more intense is known as unstable angina.", "diagnosis": "Typically, individuals with takotsubo cardiomyopathy present with symptoms undistinguishable from a myocardial infarction and will therefore be considered to have a heart attack until proven otherwise. The two most common and useful initial tests for an individual with symptoms suggesting an acute MI is an electrocardiogram (ECG), which measures electrical activity of the heart and blood troponin levels, which is a marker of damage to the heart. In takotsubo cardiomyopathy, the ECG shows changes that are typically seen in a ST-segment elevation myocardial infarction (the most severe type of heart attack), and troponin levels are elevated, as they also are in an MI. However, when coronary angiography (a medical imagining technique in which a dye is injected into the coronary arteries to visualize them with radiographs) is performed in individuals with takotsubo cardiomyopathy, no significant coronary artery occlusion is seen. Ventricular dysfunction and ballooning can be identified with ventriculography (which uses the same principles as coronary angiography but allows visualization of the ventricles), or echocardiography (which uses ultrasound waves to make visualization of the heart possible). Cardiac magnetic resonance imaging (MRI) is a specialized imaging technique that can occasionally be used to diagnose takotsubo cardiomyopathy and assess the extent of ventricular dysfunction and ballooning.", "therapies": "Treatment & Management"}
{"OrphaCode": "ORPHA:31150", "name_zh": "丹吉尔病", "Name": "Tangier disease", "disease_name": "Tangier Disease", "synonyms": "Familial alpha-lipoprotein deficiency", "disease-overview": "Tangier disease is a rare inherited disorder characterized by significantly reduced levels of high-density lipoproteins (HDL) in the blood. HDL-cholesterol (HDL-C) is often referred to as the good cholesterol as it can facilitate the removal of cholesterol out of the walls of arteries, particularly the coronary (heart) arteries. Classic features of Tangier disease include fatty accumulations that present as enlarged and yellow- or orange-colored tonsils, or enlarged liver (hepatomegaly), spleen (splenomegaly), or lymph nodes. Tangier disease may also be associated with an increased risk of cardiovascular disease, moderate elevation in triglycerides (hypertriglyceridemia), nerve disturbances (neuropathy), and rarely an opaqueness in the covering of the eye (corneal clouding). This disorder was originally named after the location in which it was first discovered – Tangier Island in the Chesapeake Bay. Later, the disease was further characterized as more individuals were found to have the disease in other areas of the United States and around the globe.", "symptoms": "Symptoms of Tangier disease are variable and depend on which organs are involved and the severity of those manifestations. Tangier disease is most often characterized by enlarged orange- or yellow-colored tonsils. This discoloration is due to fatty deposits accumulating in the tonsils. Fatty deposits can also form in other organs causing enlargement of the throat, liver, spleen, or lymph nodes. Fat accumulations in nerves can cause disturbances and loss-of-sensation called peripheral neuropathy. Discoloration may also occur in the digestive system, particularly the rectum and large intestine. Cardiovascular disease has been reported in adults with Tangier disease. In rare cases, a clouding of the cornea of the eye can occur, but is generally mild and does not cause vision impairment.", "causes": "Tangier disease is an autosomal recessive genetic disorder. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene and one gene for Tangier disease, the individual will be a carrier for the disease but will not show the classic characteristics. However, carriers of Tangier disease often are found to have relatively low levels of HDL-C.", "affected": "Tangier disease is a rare disorder with only approximately 100 cases diagnosed worldwide. Tangier disease is thought to be present at birth, but the age of diagnosis can be highly variable (from infancy through 7th decade) due to the nature of symptoms.", "related-disorders": "Symptoms of the following disorders can be similar to those of multiple sclerosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Familial hypoalphalipoproteinemia", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:480864", "name_zh": "复发性代谢性脑脊髓病-横纹肌溶解症-心脏心律不齐-智力障碍综合征", "Name": "TANGO2 Deficiency Disorder", "disease_name": "TANGO2 Deficiency Disorder", "synonyms": "TANGO2-related metabolic encephalopathy and arrhythmias", "disease-overview": "TANGO2 deficiency disorder is a rare genetic disorder caused by disease causing changes in the TANGO2 gene. Affected individuals experience episodes of acute illness called metabolic crises. These episodes can be triggered, often by a preceding infection or from decreased oral intake or fasting for an extended period of time. Irregularities in the rhythm of the heart (arrhythmias), the breakdown of muscle tissue (rhabdomyolysis) and other complications can occur during an episode. The term encephalopathy is a general term for brain disease. Neurological problems including intellectual disability and delays in reaching developmental milestones can occur. Additional signs and symptoms can occur both within and outside of metabolic crisis. TANGO2 deficiency can affect people very differently. There is no cure for the disorder, but research is underway to better understand and treat this disease. Current treatment is aimed at the specific symptoms present in each individual.", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the basis of these symptoms remains unclear. Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "TANGO2 deficiency is caused by variations in the TANGO) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When alteration of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain. Researchers are not sure what the protein produced (encoded) by the TANGO2 gene does. It may have a role in secretory protein loading within the endoplasmic reticulum, which is an extensive membrane network found within certain cells where proteins are processed. Studies also indicate that it may play a role in synthesis of lipids, important for cell functions.", "affected": "TANGO2 deficiency is a rare disorder that was first reported in the medical literature in 2016. According to the TANGO2 Research Foundation, as of January 2023, over 100 individuals have been identified with the disorder worldwide. Based on the known carrier frequency of TANGO2 changes in different populations, it is likely that over 8,000 individuals are affected with TANGO2 deficiency in the world. Rare diseases often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of TANGO2-deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of TANGO2 deficiency is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Diagnostic criteria for this disorder have not yet been established.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1412", "name_zh": "跗骨-腕骨联体综合征", "Name": "Tarsal Carpal Coalition Syndrome", "disease_name": "Tarsal Carpal Coalition Syndrome", "synonyms": "NOG-related-symphalangism spectrum disorder", "disease-overview": "", "symptoms": "The most common initial signs and symptoms of tarsal carpal coalition syndrome are worsening joint stiffness, joint pain and joint deformity. Common complaints include pain with walking and abnormal walking pattern (gait).", "causes": "Tarsal carpal coalition syndrome is caused by changes (pathogenic variants) in the NOG gene. These variants result in a loss of the noggin protein which normally forms a receptor that decreases the concentration of proteins associated with bone and cartilage growth. This excess of bone-forming and cartilage-forming proteins or cells (osteoblasts) leads to oversized growth plates and excess cartilage and bone formation. This causes failure of joint formation and fusion of adjacent bones. Multiple pathogenic variants have been identified that lead to various presentations of TCC with overlapping symptoms. These variants cause abnormal cartilage formation but do not affect the overall shape or length of limbs. Most cases run in families, but some have been isolated (sporadic, non-familial). Different families with similar/identical pathogenic variants may have different symptoms, different severity, or even different NOG gene-related disorders due to differences in gene expression. Though there is variation in presentation, it appears that everyone with a pathogenic variant in the NOG gene has some form of disease with similar findings in males and females.", "affected": "Tarsal carpal coalition syndrome is a rare condition with a prevalence of 1/1,000,000 in the general population.", "related-disorders": "Tarsal carpal coalition syndrome is one of several NOG-related symphalangism spectrum disorders (NOG-SSD) that share similarities in their pattern of joint involvement but can vary in other features such as stature, hearing loss, fusion of the humerus and radius (upper and lower arm bones) and presence of short fingers or toes. For example, patients with multiple synostoses syndrome-1 and proximal symphalangism have conductive hearing loss unlike TCC. Also, multiple synostoses syndrome-1 can be differentiated from proximal symphalangism because it consistently involves the hips and cervical spine (neck level).", "diagnosis": "Diagnosis of tarsal carpal coalition syndrome begins with recognizing the symptoms of joint stiffness, pain and deformity which are highly suspicious for this condition. Often these suspicions are confirmed by imaging such as CT or MRI which show the characteristic joint fusion, shortening of fingers/toes, deformity of bones and joint deformity. It should be noted that on plain imaging such as x-rays, children under 8 years old may not have enough bone formation to show bone fusion, and instead the cartilage fusion is still causing them to have symptoms. A definitive diagnosis can be made through genetic testing showing characteristic pathogenic variants in the NOG gene.", "therapies": NaN}
{"OrphaCode": "ORPHA:404443", "name_zh": "身材高大-智力障碍-面部畸形综合征", "Name": "Tatton Brown Rahman Syndrome", "disease_name": "Tatton Brown Rahman Syndrome", "synonyms": "TBRS", "disease-overview": "", "symptoms": "The severity and symptoms of TBRS vary from person to person. Patients and parents should consult with their physician to determine risks for specific symptoms and a plan for medical management.", "causes": "TBRS is caused by pathogenic variants in the DNMT3A (DNA methyltransferase 3 alpha) gene, which produces the DNMT3A enzyme. The function of DNMT3A is not completely understood, but it is believed that this enzyme is responsible for methylating DNA. Methylation is a process involving the addition of methyl groups to DNA: methylation results in transcriptional repression. Patients with TBRS have pathogenic variants in the DNMT3A gene that prevent the DNMT3A enzyme from functioning properly, causing a suspected decreased methylation (hypomethylation).", "affected": "The incidence and prevalence of TBRS are unknown. Since 2014, the TBRS Community is aware of more than 300 individuals with TBRS. Individuals have been diagnosed at different ages. This syndrome seems to affect males and females equally.", "related-disorders": "Genetically Related Disorders", "diagnosis": "Clinical features that may lead to suspicion of TBRS include:", "therapies": "Current therapies for TBRS involve management of symptoms. Genetic counseling may help to inform affected individuals and caregivers of the implications of TBRS, the risks associated with the syndrome and medical actions that may be needed. Creation of a treatment plan may aid in this process."}
{"OrphaCode": "ORPHA:845", "name_zh": "Tay-Sachs病", "Name": "Tay Sachs Disease", "disease_name": "Tay Sachs Disease", "synonyms": "HEXA deficiency", "disease-overview": "Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This abnormal accumulation of gangliosides leads to progressive dysfunction of the central nervous system. Tay-Sachs disease is categorized as a lysosomal storage disease. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or digest nutrients, including certain complex carbohydrates and fats (like glycosphingolipids). When one of these lysosomal enzymes (such as hexosaminidase A) is missing or ineffective, glycosphingolipids start to build up in the lysosome. If there is too much accumulation of these materials in the lysosome, the cells in the nervous system degenerate and die, triggering an inflammatory response that amplifies damage in surrounding tissue.", "symptoms": "Infantile Tay-Sachs Disease", "causes": "Tay-Sachs disease is caused by a change (mutation) in the hexosaminidase subunit alpha (HEXA) gene. Genes provide the instructions for the basic structure of proteins, all of which that play a critical role in many functions and structure of the body. When a mutation occurs in a gene, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain.", "affected": "Tay-Sachs disease affects males and females in equal numbers. Tay-Sachs disease used to be considered a prototypical disease of Jewish people of Ashkenazi descent.  Community counselling and carrier screening efforts in these communities have succeeded in reducing disease prevalence to figures roughly equivalent to those of non-Jewish populations.  Increased prevalence of Tay Sachs disease is also reported in other ethnic groups including those living in the Cajun community of Louisiana and southeastern Quebec. In the general population, the carrier rate for Tay-Sacks disease is approximately 1 in 250-300 people.", "related-disorders": "Symptoms of the following disorders can share similarities to those of Tay-Sachs disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Sandhoff disease is closely related and shares many clinical and biochemical features to Tay-Sachs. Like Tay-Sachs disease, Sandhoff disease affects the function of the enzyme Hexosaminidase A. It does so by disruption of the beta subunit (HEXB subunit) of hexosaminidase A encoded by the gene HEXB.  Like Tay-Sachs, Sandhoff disease is inherited in an autosomal recessive pattern. (For more information on this disorder, choose Sandhoff as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:66627", "name_zh": "色素绒毛结节性滑膜炎", "Name": "Tenosynovial Giant Cell Tumor", "disease_name": "Tenosynovial Giant Cell Tumor", "synonyms": "giant cell tumor of the tendon sheath (GCTTS)", "disease-overview": "", "symptoms": "The signs and symptoms of tenosynovial giant cell tumors (TGCTs) can vary depending upon the exact location involved and the subtype present. Symptoms tend to be non-specific, and most patients report pain and swelling as a symptom of the disease. Other symptoms include limitation in range of motion, tenderness to the touch, warmth coming from the joint, clicking or popping of the joint and stiffness.", "causes": "A minority of the cells that make up a TGCT (2-16%) carry a specific chromosomal translocation. Chromosomes, which are present in the nucleus of all human cells, carry genetic information for each individual, like the blueprint of the body. Each human body cell normally has 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 11p13 refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.", "affected": "Tenosynovial giant cell tumors mainly affect individuals between 25-50 years of age, with a median age of diagnosis of 40. However, these tumors can affect the elderly and younger children as well. Slightly more females than males are affected with localized TGCT. For diffuse TGCT, males and females are equally affected. Based on a 2017 Dutch study, the global incidence has been estimated to be 43 cases of TGCT per 1 million people in the general population. For localized TGCT, 39 cases per 1 million are estimated, whereas for diffuse TGCT, 4 cases per 1 million are estimated. Incidence refers to the number of new cases in a population in a specific time period. A Dutch study reported that the prevalence of TGCT is 11 per 100,000 people for diffuse TGCT and 44 per 100,000 people for localized TGCT. Prevalence refers to all cases diagnosed, regardless of when they were diagnosed. More people live with TGCT long-term than are newly diagnosed, thus, the prevalence of the disease is higher than the incidence.", "related-disorders": "Symptoms of the following disorders can be similar to those of tenosynovial giant cell tumors (TGCTs). Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of TGCT is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The initial symptoms of these tumors are often vague and may go unrecognized. Consequently, there is usually a significant delay, 3-4 years on average, from the onset of symptoms until a diagnosis is made.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:268861", "name_zh": "原发性脊髓栓系综合征", "Name": "Tethered Cord Syndrome", "disease_name": "Tethered Cord Syndrome", "synonyms": "TCS", "disease-overview": "Tethered cord syndrome is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretching and increased tension of the spinal cord as a child ages, potentially resulting in a variety of neurological and other symptoms. Due to the variation of the growth rate of the spinal cord and the spinal column, the progression of neurological signs and symptoms is highly variable. Some individuals present with tethered cord syndrome at birth (so-called congenital), while others develop the symptomatology in infancy or early childhood. Other individuals may not develop any noticeable symptoms until adulthood. Although some authors call these cases acquired, the majority of these cases are mostly developmental, corresponding to the progressive development of excess fibrous connective tissue (fibrosis) in the filum terminale. The filum terminale is a strand of tissue that bridges the spinal cord tip and the tailbone (sacrum). The inelastic structures in children originated from defective closure of the neural tube (the precursor of the spinal cord) during embryonic development, eventually forming a condition known as spina bifida. Because of its functional (physiological) nature, tethered cord syndrome can be reversible if surgically treated in its early stage.", "symptoms": "The specific symptoms, severity and progression of tethered cord syndrome vary from one individual to another. In most cases, individuals experience symptoms during childhood. In some cases, symptoms are stabilized in childhood, but become apparent only in adulthood.", "causes": "Tethered cord syndrome can be of a congenital (primary) origin or acquired (secondary or developmental).", "affected": "Tethered cord syndrome affects males and females in equal numbers. The exact incidence of the disorder in the general population is unknown. In the past, the diagnosis of tethered cord syndrome has been controversial and the disorder often still remains unrecognized and underdiagnosed. After many years of skepticism, tethered cord syndrome is now considered a distinct clinical entity. In order to help clarify the situation, a proposed definition for true tethered cord syndrome limits that this disorder to individuals who exhibit neurological signs and symptoms due to inelastic structures anchoring the caudal end of the spinal cord. There are cases in which individuals have the symptoms and signs similar to true tethered cord syndrome, but have associated defects that cause compression and impaired blood flow of the spinal cord, or congenital neuronal dysgenesis (failure of neuronal development). For example, in myelomeningoceles and lipomyelomeningoceles that are directly connected to the entire dorsal surface of lumbosacral spinal cord, their neurological deficits are unrelated to spinal cord stretching (tethered cord syndrome). Symptomatically, patients with these anomalies present with complete or nearly complete paralsysis of lower limbs and total loss of bladder and rectal control.", "related-disorders": "Symptoms of the following disorders may present with sign and symptoms similar to those of tethered cord syndrome. Comparisons may be useful for a differential diagnosis. They are extradural lesions, intradural-extramedullary lesions, intramedullary lesions extraspinal lesions, and peripheral neuropathy or myelpathy.", "diagnosis": "A diagnosis of tethered cord syndrome is made based upon identification of characteristic signs and symptoms (see the symptom section) that can neurologically locate the lesion to be above the attachment of the anomalies to the spinal cord. For this purpose, a detailed patient history and a thorough clinical evaluation and detailed MRI studies must be carried out. In children, typical imaging features such as a low lying spinal cord and a thickened filum terminale is confirmed by special imaging techniques such as magnetic resonance imaging (MRI) or computed tomography (CT) scan and ultrasound studies.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:238583", "name_zh": "四氢生物蝶呤缺乏性高苯丙氨酸血症", "Name": "Tetrahydrobiopterin Deficiency", "disease_name": "Tetrahydrobiopterin Deficiency", "synonyms": "BH4-deficient hyperphenylalaninemia", "disease-overview": "", "symptoms": "Although researchers have been able to establish distinct syndromes with characteristic or core symptoms, much about these disorders is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies and the possibility of other genes influencing the development and progression of these disorders prevent physicians from developing a complete picture of associated symptoms and prognosis.", "causes": "Tetrahydrobiopterin deficiencies are caused by variants (mutations) in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body, including the brain.", "affected": "Tetrahydrobiopterin deficiencies affect males and females in equal numbers and have been diagnosed in a diversity of ethnic groups worldwide. In the United States, these disorders are estimated to affect 1% to 3% of infants diagnosed with high levels of phenylalanine (hyperphenylalaninemia) by newborn screening. Tetrahydrobiopterin deficiencies are estimated to affect approximately 1-2 in 1,000,000 individuals in the general population. Some cases, particularly mild or transient cases, may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of these disorders in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of tetrahydrobiopterin deficiencies. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Disorders of tetrahydrobiopterin deficiency are often found by newborn screening that detects elevated levels of phenylalanine. Further testing is required to distinguish these disorders from other causes of hyperphenylalaninemia such as phenylketonuria, and to determine the specific type of tetrahydrobiopterin deficiency present. Additionally, phenylalanine levels may be normal when a newborn screening is done and can be formal during early infancy, therefore an evaluation for tetrahydrobiopterin deficiencies should be considered in any infant with unexplained neurological symptoms, particularly in parents who are related by blood.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3303", "name_zh": "法洛四联症", "Name": "Tetralogy of Fallo", "disease_name": "Tetralogy of Fallo", "synonyms": "Fallot's Tetralogy", "disease-overview": "", "symptoms": "The symptoms of tetralogy of Fallot vary widely from person to person. The severity of the symptoms, which may range from mild to severe, is related to the degree of blood flow obstruction from the right ventricle.", "causes": "The exact cause of tetralogy of Fallot is not known. However, some studies suggest that the disorder may be due to the interaction of several genetic and/or environmental factors (multifactorial). Therefore, researchers suspect that something may affect the genes in the developing fetus, causing this birth defect, but the exact nature of this trigger is not known.", "affected": "Tetralogy of Fallot is a rare congenital malformation of the heart that occurs more frequently in males than females. Approximately 1 percent of newborns have congenital heart defects. About 10 percent of these infants are diagnosed with tetralogy of Fallot. This heart defect is usually detected weeks or months after birth. The prevalence of tetralogy of Fallot is estimated to be 1 in 3,000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of tetralogy of Fallot. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrial septal defects (ASDs) are common congenital heart defects characterized by the presence of a small opening between the two atria of the heart. These defects lead to an increase in the workload on the right side of the heart as well as excessive blood flow to the lungs. The symptoms, which vary greatly, may become apparent during infancy, childhood, or adulthood, depend on the severity of the defect. The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and abnormal bluish discoloration of the skin and/or mucous membranes (cyanosis). Some people with ASDs may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism), blocking blood circulation. (For more information on this disorder, choose Atrial Septal Defect as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3310", "name_zh": "9号染色体短臂四倍体", "Name": "Tetrasomy 9p", "disease_name": "Tetrasomy 9p", "synonyms": "chromosome 9, tetrasomy 9p", "disease-overview": "Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears four times (tetrasomy) rather than twice in all or some cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two number 9 chromosomes, both of which have a short arm (9p) and a long arm (9q). In individuals with tetrasomy 9p, four short arms (9p) are present in cells rather than the normal two.", "symptoms": "Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in cells of the body. In most patients, this chromosomal abnormality is present in all cells of the body; however, in some affected people, only some cells have tetrasomy 9p and other cells have a normal chromosomal make-up, and this is called mosaicism. Symptoms vary in affected individuals, depending upon whether mosaicism is present and, if so, what percentage of cells contain the tetrasomy 9p abnormality.", "causes": "Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in some or all the cells of the body. When only some cells are affected, this is termed mosaicism.", "affected": "Tetrasomy 9p is a very rare chromosomal disorder that appears to affect males slightly more often than females. Approximately 70 cases have been reported in the medical literature. About 30% of all known cases are mosaic.", "related-disorders": "Symptoms of the following disorders may be similar to those of tetrasomy 9p. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Trisomy 9p is a rare chromosomal disorder in which a portion of chromosome 9 appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a segment of the long arm (9q). Many of the symptoms associated with trisomy 9p are similar to those occurring in individuals with tetrasomy 9p. Associated symptoms and findings may include an abnormally small head (microcephaly), a bulbous nose, misshapen ears, crossed and/or widely spaced eyes (strabismus and/or ocular hypertelorism), a large mouth with downturned corners, and/or other craniofacial abnormalities. Additional associated features may include growth delay, delayed bone development, hand and finger malformations, heart (cardiac) defects and intellectual disability. In approximately half of known cases, trisomy 9p is due to a balanced chromosomal rearrangement in one of the parents; in other cases, the disorder appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:97330", "name_zh": "胸廓出口综合征", "Name": "Thoracic outlet syndrome", "disease_name": "Thoracic Outlet Syndrome", "synonyms": "TOS", "disease-overview": "*This condition is no longer considered rare", "symptoms": "Neurogenic TOS presents with pain, weakness, numbness and tingling in the hand and arm. Additionally, neck pain and headache in the back of the head are common.", "causes": "Neurogenic TOS is most often caused by neck trauma, whiplash injuries or repetitive stress injury at work being the most common events that bring on symptoms. The injury results in over-stretching neck muscles which heal by forming scar tissue in the muscle. This in turn puts pressure against the nerves to the arm which causes the symptoms.", "affected": "", "related-disorders": "Pectoralis minor syndrome (PMS) is a condition causing pain, numbness and tingling in the hand and arm. It often coexists with thoracic outlet syndrome (TOS) but can also occur alone.", "diagnosis": "Neurogenic TOS is diagnosed by using provocative maneuvers to elicit (or provoke) symptoms. These maneuvers put the neck and arms in certain positions which put stress on the nerves to the arm to bring on the symptoms of pain, numbness and tingling in the hand, arm, and neck. Some of these maneuvers have been shown to be unreliable because positive responses are found in many healthy individuals. These include the Adson test, Roos Test, and Wright Test. Other provocative maneuvers which provide greater reliability and seldom are positive in healthy people include rotating the neck or tilt the head to one side which causes symptoms to appear on the opposite side. Another provocative maneuver is extending one arm to the side, bending the wrist upward, and tilting the head to the opposite side (called the upper limb tension test). When all of these maneuvers elicit the same symptoms a diagnosis of neurogenic TOS is highly likely.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2616", "name_zh": "3M综合征", "Name": "Three M Syndrome", "disease_name": "Three M Syndrome", "synonyms": "3M3", "disease-overview": "", "symptoms": "Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations.", "causes": "Three M syndrome is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "Three M syndrome is an extremely rare inherited disorder that appears to affect males and females in equal numbers. Approximately 25 cases have been reported in the medical literature since the disorder was first described in 1972.", "related-disorders": "Symptoms of the following disorders may be similar to those of Three M syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "In some cases, growth retardation and/or other characteristic findings suggestive of Three M syndrome may be detected before birth (prenatally) by ultrasound. In fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3320", "name_zh": "血小板减少-桡骨缺失综合征", "Name": "Thrombocytopenia Absent Radius Syndrome", "disease_name": "Thrombocytopenia Absent Radius Syndrome", "synonyms": "radial aplasia-amegakaryocytic thrombocytopenia", "disease-overview": "Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii) but with presence of thumbs. Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects) and kidney (renal) defects. Affected individuals may be short for their age (short stature) and have cow’s milk intolerance. TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by deletion and/or variants in the RBM8A gene.", "symptoms": "TAR syndrome can potentially affect multiple systems of the body, but it is especially associated with blood (hematological) and bone (skeletal) abnormalities. The two main findings are thrombocytopenia and radial aplasia. A variety of additional symptoms also occur. The specific symptoms vary from patient to patient. Affected individuals will not have all of the symptoms listed below. Some symptoms improve over time and may cause little or no problems in adulthood. Most affected individuals have normal intelligence, are able live independently and many have married and have had their own children.", "causes": "TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by two different types of changes (variants) in the RBM8A gene.", "affected": "The prevalence of TAR syndrome is estimated at 1:200,000-1:100,000.", "related-disorders": "Symptoms of the following disorders may be similar to those of thrombocytopenia-absent radius (TAR) syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Fanconi anemia, also known as Fanconi pancytopenia syndrome, is a rare genetic disorder characterized by deficiency of all blood cell types (pancytopenia), including red blood cells, white blood cells and platelets. Such abnormalities may lead to abnormal bleeding and easy bruising, paleness of the skin (pallor), recurrent infection and other findings that typically become apparent from approximately three to 10 years of age. However, in some patients, pancytopenia and associated abnormalities (hematologic findings) may occur as early as infancy or as late as the third decade of life. Individuals with Fanconi anemia may also have abnormal, patchy, brownish discolorations of the skin, short stature and certain congenital defects. These may include underdevelopment or absence of the thumbs and/or the bones on the thumb side of the forearms (radii), congenital hip dislocation, kidney (renal) malformations, cardiac defects and/or other abnormalities. There are several different subtypes (complementation groups) of Fanconi anemia, each of which is thought to result from variants in different disease genes. The disorder is known to be associated with a high frequency of chromosomal breakage, a finding that may be helpful in distinguishing Fanconi anemia from other disorders with similar symptoms and findings. Fanconi anemia is inherited in an autosomal recessive pattern. (For further information on this disorder, choose Fanconi as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:54057", "name_zh": "血栓性血小板减少性紫癜", "Name": "Thrombotic thrombocytopenic purpura", "disease_name": "Thrombotic Thrombocytopenic Purpura", "synonyms": "microangiopathic hemolytic anemia", "disease-overview": "Thrombotic thrombocytopenia purpura (TTP) is a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia) and disturbances in the nervous system and other organs occur as a result of small clots that form in the smallest arteries. The exact cause of TTP is unknown.", "symptoms": "The thrombocytopenia and hemolytic anemia are a result of these small clots in the blood vessels of many organs, potentially blocking the normal flow of blood through the vessels. Disturbances affecting the nervous system may include headaches, mental changes, confusion, speech abnormalities, slight or partial paralysis (paresis), seizures or coma.", "causes": "The exact cause of TTP is not known. However, the disease is associated with a deficiency of an enzyme involved in blood clotting called the von Willebrand factor cleaving protease (also called ADAMTS13). The deficiency of this enzyme allows large complexes of the clotting protein known as von Willebrand factor to circulate in the blood, resulting in platelet clotting and the destruction of red blood cells.", "affected": "The current rate of occurrence for TTP is about 3.7 cases per million people each year. One estimate places the overall incidence rate at four of 100,000 individuals. Two-thirds of individuals with iTTP cases are women. It usually affects people between 20 to 50 years of age but people of any age may be affected.", "related-disorders": "Childhood-onset or iTTP often occurs concurrently with systemic lupus erythematosus (SLE). A search of the literature by investigators at the University of Toronto demonstrated that approximately half of the cases of childhood-onset TTP met criteria for incipient or definite SLE. The best indicator for the presence or later development of SLE appeared to be excessive serum proteins in the urine (high-grade proteinuria) at the time of diagnosis of TTP. The researchers recommended that physicians rule out concomitant SLE in all children who present with TTP.", "diagnosis": "Hemolytic uremic syndrome (STEC HUS) is an uncommon disease that occurs in 5 to 15 percent of individuals, especially children, who are infected by the Escherichia coli (E. coli) bacterium. This organism releases toxins into the gut that are absorbed into the bloodstream and may be transported by white blood cells (leukocytes) to the kidneys. This results in acute renal injury. There may also be damage to the brain with seizures and even coma, the pancreas with pancreatitis and occasionally diabetes mellitus, and other organs. STEC HUS mainly affects young children between one and 10 years. The onset of HUS is preceded by an illness characterized by vomiting, abdominal pain, fever, and, usually, bloody diarrhea. (For more information on this disorder, choose STEC HUS as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:100088", "name_zh": "甲状腺癌", "Name": "Thyroid Cancer", "disease_name": "Thyroid Cancer", "synonyms": "", "disease-overview": "Thyroid cancer (carcinoma) is cancer affecting the thyroid gland, a butterfly-shaped structure located at the base of the neck. The thyroid is part of the endocrine system, the network of glands that secrete hormones.  Thyroid hormones regulate the chemical processes (metabolism) that influence the body’s activities as well as regulating the heart rate, body temperature, and blood pressure. Hormones are secreted directly into the bloodstream where they travel to various areas of the body.", "symptoms": "The vast majority individuals with thyroid cancer have no symptoms (asymptomatic). In most cases, a small growth or lump (nodule), discovered by the patient, health care provider, or incidentally on an imaging study (e.g., a CT scan, MRI, or carotid artery ultrasound), is the first sign of thyroid cancer. Thyroid nodules or lumps in the thyroid may be caused by a variety of conditions and do not necessarily mean that an individual has cancer. In fact, more than 90 percent of thyroid nodules are not cancerous (benign).", "causes": "The cause(s) of thyroid cancer are unknown. Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., certain chemicals, ionizing radiation), diet, and/or other factors may play contributing roles in causing specific types of cancer. Rarely, thyroid cancer can be hereditary, especially medullary thyroid cancer, as noted above. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.", "affected": "According to the American Cancer Society, approximately 53,000 new cases of thyroid cancer will be diagnosed in the United States in 2020. Of those cases, more than 41,000 will occur in women. In fact, thyroid cancer is now the 5th most common cancer in women. Thyroid cancer can affect individuals of any age and specific forms occur with greater frequency among different age groups. In general, thyroid nodules in children and adolescents are more likely may be malignant than those that occur in adults. In general, for unclear reasons, the rate of thyroid cancer incidence has been increasing rapidly over the past few decades. Some researchers believe that this increase in frequency is due to the greater use of imaging (e.g., chest CT scans, cervical spine MRI), with the result being an increase in the rate of detection of small thyroid cancers that may not ever have been detected while the individual was alive.  However, there may also be an increase in the frequency of larger thyroid cancers, possibly the result of environmental factors.", "related-disorders": "Multiple endocrine neoplasia (MEN) type 2 is a rare genetic cancer syndrome in which tumors develop in the endocrine glands (e.g., thyroid, parathyroid, adrenal glands). Two main subtypes exist called MEN 2A and MEN 2B. Familial medullary thyroid carcinoma (FMTC) is considered a third subtype. Nearly all individuals with MEN 2 develop medullary thyroid carcinoma (MTC) at some point. (For more information on these disorders, choose multiple endocrine neoplasia as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of thyroid cancer is based upon a thorough clinical evaluation, including a detailed patient history and physical exam, and a variety of specialized blood tests and imaging tests. Such testing often includes microscopic evaluation of tumor cells obtained by fine needle aspiration biopsy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:65283", "name_zh": "Timothy综合征", "Name": "Timothy syndrome", "disease_name": "Timothy Syndrome", "synonyms": "long QT syndrome type 8 (LQT8)", "disease-overview": "", "symptoms": "Due to the multisystem nature of this disease, its clinical presentation is remarkably complex.", "causes": "In 2004 Splawski and colleagues [3] discovered that TS is caused by mutations in the CACNA1C gene, which is responsible for regulating the formation of a protein that moves calcium inside the cardiac cells (i.e. the calcium channel). The calcium channel is composed of a long sequence of smaller molecules, called amino acids. In the first cohort described by Splawski in 2004 [3], all patients had an identical mutation (G406R), which caused the substitution of the amino acid glycine (G) in position 406 with the amino acid arginine (R). When this gene is mutated, the closing of the channel is delayed causing too much calcium to enter the cells, which in turn determines the prolongation of the QT interval on the EKG.", "affected": "TS has been diagnosed in less than 100 children around the world. Because of the multisystem nature of this syndrome, very few children live to adulthood. Thanks to improved recognition of this syndrome and improved medical care, there are a number of TS individuals now in their twenties and early 30s.", "related-disorders": "There are several genetic forms of long QT syndrome (LQTS) that are more common than TS. All LQTS share an abnormality of cardiac rhythm which can lead to fainting spells, cardiac arrest, and sudden death. LQTS typically presents between the pre-teen age through the twenties, but can occur anywhere from infancy through middle age. (For more information on these conditions, search for long QT syndrome in the Rare Disease Database.) Unlike TS, these LQTS variants are usually non-syndromic, meaning that patients do not exhibit extra-cardiac manifestations. However, other two examples of syndromic LQTS exist: the Andersen-Tawil syndrome (ATS) and the Jervell and Lange Nielsen syndrome (JLNS).", "diagnosis": "The occurrence of cardiac arrhythmias or the documentation of a prolonged QT interval on the EKG usually permits the establishment of diagnosis in the first days of life. In up to 25% of patients [6], TS may also be suspected before birth due to abnormal heart rate in the womb (fetal bradycardia) but occasionally the diagnosis is made later, during early infancy. Other distinctive features such as cardiac malformations or hypertrophy, syndactyly and typical facial abnormalities are suggestive of TS. Additional symptoms such as recurrent infections, episodes of paroxysmal hypoglycemia, autism spectrum disorders, seizures and intellectual disability may also contribute to the diagnosis. Once clinical suspicion has been raised, diagnosis can be confirmed through genetic testing for mutations in the CACNA1C gene. Once diagnosis is established, evaluations including cardiology, neurology, skeletal and metabolic consultations should be done to evaluate the extent of the disease and to undertake the appropriate therapeutic measures.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64686", "name_zh": "痛性眼肌麻痹综合征", "Name": "Tolosa Hunt Syndrome", "disease_name": "Tolosa Hunt Syndrome", "synonyms": "ophthalmoplegia, painful", "disease-overview": "Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals may exhibit signs of paralysis (palsy) of certain cranial nerves such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness. The affected eye often abnormally protrudes (proptosis). The exact cause of Tolosa-Hunt syndrome is not known, but the disorder is thought to be associated with inflammation of specific areas behind the eye (cavernous sinus and superior orbital fissure).", "symptoms": "Many individuals with Tolosa-Hunt syndrome experience the sudden onset of severe periorbital headache, followed by painful and decreased eye movements (ophthalmoplegia). In some cases of severe ophthalmoplegia, the eye itself is unable to move or look in various directions (frozen globe).", "causes": "While the exact cause of Tolosa-Hunt syndrome is unknown, one theory is an abnormal autoimmune response linked with an inflammation in a specific area behind the eye (cavernous sinus and superior orbital fissure). In some cases, inflammation may be due to a clumping of a certain type of cell (granulomatous inflammation). Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Other possible causes may include generalized inflammation and constricted or inflamed cranial blood vessels.", "affected": "Tolosa-Hunt syndrome is a rare neuro-immunological disorder that occurs in males and females in equal numbers. The average age of onset is 41 years, but there have been cases reported among people younger than age 30. In rare cases, children under the age of 10 have been diagnosed with Tolosa-Hunt syndrome.", "related-disorders": "Symptoms of the following disorders can be similar to those of Tolosa-Hunt syndrome. Comparisons may be useful for differential diagnosis:", "diagnosis": "Orbital cellulitis is characterized by inflammation of the tissues within the cavity which holds the eyeball. Symptoms include extreme pain, impaired eye movement, swelling, fever and a general feeling of discomfort. Possible complications may include impaired vision, vein abnormalities and spread of the inflammation to the entire orbit, brain or the membranes surrounding the brain.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:357154", "name_zh": "口腔粘膜下纤维性变", "Name": "Tongue Cancer", "disease_name": "Tongue Cancer", "synonyms": "Cancer of the Tongue", "disease-overview": "Tongue cancers are oral cancers that are differentiated by their location in the mouth and on the tongue. If the cancer is on the forward portion of the tongue, it is known as a squamous cell cancer of the oral tongue. If the cancer is located towards the rear third of the tongue, it is known as a squamous cell cancer at the base of the tongue.", "symptoms": "Generally, the first sign of squamous cell cancer of the oral tongue is a pinkish-red sore at the side of the tongue that persists and seems not to heal over time.  Quite often, the sore bleeds easily if bitten or touched. If this occurs, it is recommended that the person see a physician, especially if the person is older than fifty.", "causes": "The cause of tongue cancer is unknown.  Inadequate oral hygiene and thickened white patches on the mucous membranes of the oral cavity (leukoplakia) may be a cause.  The disorder is statistically linked with alcoholism, cirrhosis of the liver, excessive smoking, and syphilis.", "affected": "Tongue cancer is most common in men over age 60.  It is rare in people, particularly women, under age 40.", "related-disorders": "There are many types of mouth cancer.  All types are relatively rare.", "diagnosis": "Examination of a sample of tissue from the site of the suspected cancer by a qualified pathologist is the key to diagnosis. MRI and/or CAT scans may be ordered to determine the location and size of the growth. This examination will also determine the stage of the disorder (how advanced it may be), which in turn, will help determine the method and pace of treatment.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2227", "name_zh": "欧洲非罕见：牙发育不全", "Name": "Tooth Agenesis", "disease_name": "Tooth Agenesis", "synonyms": "", "disease-overview": "Tooth agenesis is a condition in which teeth are missing. Anodontia is a genetic disorder defined as the absence of all teeth. It usually occurs as part of a syndrome that includes other abnormalities. Also rare but more common than anodontia are hypodontia and oligodontia. Hypodontia is genetic in origin and usually involves the absence of from 1 to 5 teeth. Oligodontia is genetic as well and is the term used to describe a condition in which six or more teeth are missing.", "symptoms": "Hypo/oligodontia is characterized by partial and anodontia by complete absence of teeth. Since all primary teeth are usually present by the age of three, their absence is usually noted, and a dentist consulted. Except for wisdom teeth, all permanent teeth are usually present by the ages 12 to 14. When teeth have not appeared by the appropriate age, dental panoramic X-rays are usually taken.", "causes": "Several different genes have been found to be associated with hypo/oligodontia and anodontia including the EDA, EDAR and EDARADD genes.", "affected": "The prevalence of anodontia is unknown. This condition affects males and females in equal numbers. The prevalence of hypodontia is 2 to 8% of the general population (excluding third molar) and oligodontia is 0.09%. to 0.3%.", "related-disorders": "The ectodermal dysplasias are a group of hereditary, non-progressive conditions affecting the development or function of the teeth, hair, nails and sweat glands, salivary glands, mammary glands, nasolacrimal ducts. (For more information, choose Ectodermal Dysplasia as your search term in the Rare Disease Database).", "diagnosis": "The diagnosis of hypo/oligodontia or anodontia may be confirmed by dental X-rays. Other signs might be associated such as smaller teeth, peg shape lateral incisors, conical teeth, taurodontic molars, and spaced dentition.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2228", "name_zh": "牙发育不全-指甲发育不良综合征", "Name": "Hypodontia-dysplasia of nails syndrome", "disease_name": "Tooth and Nail Syndrome", "synonyms": "Witkop syndrome", "disease-overview": "", "symptoms": "TNS involves missing and/or the malformation of certain baby teeth (primary teeth) and permanent/adult teeth (secondary teeth). The number affected can range from 6 to 20 teeth. It also involves incorrect development of the nails. Rarely, affected individuals may also have changes affecting scalp hair, like thinning of the hair. Individuals with this condition usually have typical hair and sweat gland function. Symptoms are most obvious around school-age. TNS symptoms are less severe than other types of ectodermal dysplasia. Because of this, some people with TNS may be undiagnosed.", "causes": "TNS is a genetic condition caused by a harmful change (mutation) in a gene. This leads to lack of a functional protein which ultimately causes the symptoms of TNS. The gene that causes TNS is called MSX1 and was discovered in 2001. This gene makes a protein that is important in tooth formation. Some mutations lead to a non-functioning protein resulting in TNS. Other rare MSX1 gene variants have been found to be associated with cleft lip and/or palate with or without missing teeth. Research has shown that harmful changes in the MSX1 gene affect the quality of a tooth layer called the mesenchyme. The MSX1 protein is involved in only certain stages of tooth development.", "affected": "TNS affects males and females in equal numbers. Since the condition was originally described in the medical literature in 1965 by C.J. Witkop, over 30 patients have been reported, with many in several families (kindreds). It has been estimated that 1-2 in every 10,000 individuals may be affected by TNS. The condition appears to be more common in Dutch Mennonites of Canada.", "related-disorders": "Symptoms of the following disorders may be similar to those of TNS. Comparisons may be useful in determining which diagnosis is correct.", "diagnosis": "TNS may be suspected at birth if one or more toenails and/or fingernails are absent. More commonly, the condition is diagnosed at around four or five years of age, when certain primary (baby) teeth are missing and underdevelopment of nails may be noted. In some people, a diagnosis of TNS may not be confirmed until seven to fifteen years of age. This can be when the missing and/or unusual shape of several permanent, adult teeth and nail dysplasia has been confirmed. A diagnosis of TNS is confirmed based upon a thorough clinical exam noting the typical physical findings. Molecular genetic testing can also confirm a diagnosis. However, the percentage of patients with a clinical diagnosis of TNS and an identifiable mutation in the MSX1 gene is currently unknown.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1229", "name_zh": "先天性宫内感染样综合征", "Name": "TORCH Syndrome", "disease_name": "TORCH Syndrome", "synonyms": "Cytomegalovirus", "disease-overview": "TORCH Syndrome refers to infection of a developing fetus or newborn by any of a group of infectious agents. TORCH is an acronym meaning (T)oxoplasmosis, (O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex. Infection with any of these agents (i.e., Toxoplasma gondii, rubella virus, cytomegalovirus, herpes simplex viruses) may cause a constellation of similar symptoms in affected newborns. These may include fever; difficulties feeding; small areas of bleeding under the skin, causing the appearance of small reddish or purplish spots; enlargement of the liver and spleen (hepatosplenomegaly); yellowish discoloration of the skin, whites of the eyes, and mucous membranes (jaundice); hearing impairment; abnormalities of the eyes; and/or other symptoms and findings. Each infectious agent may also result in additional abnormalities that may be variable, depending upon a number of factors (e.g., stage of fetal development).", "symptoms": "TORCH Syndrome refers to any of a group of infections in newborns due to one of the TORCH infectious agents having crossed the placenta during pregnancy.  The acronym TORCH refers to (T)oxoplasmosis, (O)ther Agents, (R)ubella (or German Measles), (C)ytomegalovirus, and (H)erpes Simplex.", "causes": "TORCH Syndrome results from one of the TORCH agents having crossed the placenta during pregnancy.  These infectious agents include Toxoplasma gondii, the single-celled microorganism (protozoa) responsible for Toxoplasmosis; rubella virus; cytomegalovirus; and herpes simplex viruses.  (Note: According to some reports, the acronym TORCH is sometimes modified to the term STORCH to include syphilis, a disease that may result in symptoms similar to those associated with the other TORCH agents.  Syphilis is caused by infection with the bacterium Treponema pallidum.  In addition, TORCH may encompass other disease-causing agents, such as varicella-zoster virus, which is the virus responsible for chickenpox, and parvovirus.)", "affected": "TORCH syndrome may affect a developing fetus or newborn, potentially resulting in miscarriage, delayed fetal growth and maturation (intrauterine growth retardation), or early delivery.", "related-disorders": "", "diagnosis": "", "therapies": "Treatment of newborns and infants with TORCH Syndrome is based upon the specific causative agent, the stage of fetal development when infection initially occurred, the severity of the infection and associated symptoms and findings, and/or other factors. For infants with toxoplasmosis, treatment may include administration of the medication pyrimethamine with sulfadiazine. Herpes simplex may be treated with the antiviral agent acyclovir. The treatment of newborns and infants with rubella or cytomegalovirus primarily includes symptomatic and supportive measures."}
{"OrphaCode": "ORPHA:857", "name_zh": "汤-布综合征", "Name": "Townes-Brocks syndrome", "disease_name": "Townes-Brocks Syndrome", "synonyms": "deafness, sensorineural, with imperforate anus and hypoplastic thumbs", "disease-overview": "", "symptoms": "There are three major symptoms of TBS: A closed anal opening (imperforate anus), small ears that usually have a folded rim of skin and cartilage around the outer ear, and differences in the structures of the thumbs. The thumbs have three bones (triphalangeal) instead of two. People with this syndrome may also have an extra thumb (preaxial polydactyly). Another symptom may be hearing loss present at birth (congenital). The hearing loss can be sensorineural and/or conductive, range from mild to severe and may be progressive. Differences in the feet occur less frequently and include a short third toe, overlapping toes and flat feet. Typical kidney (renal) differences include displaced or rotated kidneys, horseshoe kidney, polycystic kidneys and underdeveloped kidneys. There can also be heart and genital problems present at birth. Intellectual disability occurs in about 10% of affected individuals.", "causes": "TBS is caused by a harmful genetic change (mutation) in a gene called SALL1. The SALL1 gene has instructions for the body to form certain tissues and organs such as the hands (particularly the thumbs), ears, anus and kidneys. Humans should have two working copies of the SALL1 gene, but people with TBS have one copy of the gene that does not work properly.", "affected": "It has been estimated that TBS occurs in at least 1 in 250,000 births.", "related-disorders": "The physical features of TBS are similar to oculo-auriculo-vertebral spectrum disorder, Okihiro syndrome, branchiootorenal syndrome, VACTERL association and STAR syndrome.", "diagnosis": "The clinical diagnosis of TBS is based on the presence of the three common symptoms (differences of the anus, ear and thumb) and sometimes the minor features. Genetic testing that reveals a harmful variant in the SALL1 gene can confirm the diagnosis.", "therapies": "Treatment includes surgery to correct the differences of the anus and thumbs. Hearing evaluation should be conducted if TBS is suspected. Ultrasound and laboratory tests should be performed to monitor kidney function. A baseline echocardiogram should be performed by a cardiologist."}
{"OrphaCode": "ORPHA:36234", "name_zh": "细菌中毒性休克综合征", "Name": "Toxic Shock Syndrome", "disease_name": "Toxic Shock Syndrome", "synonyms": "TSS", "disease-overview": "Toxic Shock Syndrome is a rare multisystem disease with many widespread symptoms. It is caused by a toxin that is produced and secreted by the bacterium Staphylococcus aureus. The symptoms of Toxic Shock Syndrome may include a sudden high fever, nausea, vomiting, diarrhea, abnormally low blood pressure (hypotension), and a characteristic skin rash that resemble a bad sunburn. Most cases of Toxic Shock Syndrome occur in menstruating females in association with the use of tampons. Other cases may occur in association with postoperative wound infections, nasal packing, or other factors.", "symptoms": "The symptoms of Toxic Shock Syndrome begin suddenly and usually include high fever, headache, sore throat (pharyngitis), inflammation of the whites of the eyes (conjunctivitis), muscle aches and pain (myalgia), and/or certain digestive symptoms, such as nausea, vomiting, and profuse watery diarrhea. Involvement of the central nervous system is also common and may be characterized by listlessness, dizziness, confusion, and/or disorientation. A characteristic sunburn-like skin rash typically develops within a few hours of onset, with later scaling and peeling (desquamation) of skin, particularly of the palms and soles.", "causes": "Toxic Shock Syndrome (TSS) is a rare acute multisystemic disease caused by toxins (such as toxic shock syndrome toxin-1 [TSST-1], enterotoxin B, enterotoxin C) produced by certain strains (particularly phage group I) of the bacterium Staphylococcus aureus (S. aureus). TSS is most common in menstruating women who use highly absorbent tampons. Evidence suggests that the prolonged use of tampons in the presence (i.e., colonization) of toxin-secreting S. aureus strains may promote increased production of the toxin, which may enter the bloodstream through the uterus or tiny cuts within the vaginal lining.", "affected": "Toxic Shock Syndrome (TSS) was originally described as a disease entity in 1978, when the condition was reported in seven children from age eight to 17 years. In 1980 and 1981, a large number of TSS cases were recognized, primarily in young menstruating women who used tampons. This sudden increase was thought to be due to the introduction and availability of new, highly absorbent tampons.", "related-disorders": "Symptoms of the following disorders may be similar to those of Toxic Shock Syndrome (TSS). Comparisons may be useful for a differential diagnosis:", "diagnosis": "Streptococcal Toxic Shock Syndrome may be characterized by TSS-like symptoms and findings, the sudden onset of shock, and impairment of various organ systems due to infection with certain toxin-secreting strains of streptococcus bacteria (group A beta-hemolytic streptococci). The syndrome, which was initially reported in the mid to late 1980s, may occur in adults or children. The skin and soft tissues are usually the primary sites of infection. Factors that appear to increase the risk of infection may include certain surgical procedures, particular viral infections (e.g., varicella, influenza), and exposure to affected individuals in close environments such as hospitals or nursing homes. Associated symptoms and findings may vary from case to case, depending upon the causative bacterial strain and other factors. Reported features have included initial flu-like symptoms, including fever, chills, muscle aches, and vomiting; low blood pressure (hypotension); confusion; an accelerated heart rate (tachycardia), unusually rapid breathing (tachypnea), and other findings; and sudden onset of shock and multiple organ failure, leading to potentially life-threatening complications.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:139417", "name_zh": "急性横贯性脊髓炎", "Name": "Transverse Myelitis", "disease_name": "Transverse Myelitis", "synonyms": "", "disease-overview": "", "symptoms": "The spinal cord carries motor nerve fibers to the limbs and trunk and sensory fibers from the body back to the brain. Inflammation within the spinal cord interrupts these pathways and causes the typical presenting symptoms. TM generally presents with rapidly progressing muscle weakness or paralysis, beginning with the legs and potentially moving to the arms with varying degrees of severity. The arm involvement is dependent upon the level of spinal cord affected. Sensation to light touch is diminished below the level of spinal cord lesion in most individuals. Pain (ascertained as appreciation of pinprick by the neurologist) and temperature sensation are generally diminished and appreciation of vibration (as tested by a tuning fork) and joint position sense may also be decreased. Many patients report a tight banding or girdle-like sensation around the trunk and that area may be very sensitive to touch.", "causes": "The possible causes of TM can be quite varied. TM may occur in isolation or in the setting of another illness. Idiopathic TM is assumed to be a result of abnormal and excessive activation of an immune response against the spinal cord that results in inflammation and tissue damage (for which the exact cause is still undetermined).", "affected": "TM has a conservatively estimated incidence of between 1 and 8 new cases per million per year, or approximately 1,400 new cases each year. However, this is probably an underestimate. Although this disease affects people of all ages, with a range of six months to 88 years, there are peaks between the ages of 10 to 19 years and 30 to 39 years. In addition, approximately 25% of cases are in children. There is no gender or familial association with TM. In 75-90% of cases TM occurs only once, yet a small percentage of patients have recurrent disease especially if there is a predisposing underlying illness.", "related-disorders": "As mentioned above, TM may be a relatively uncommon manifestation of several autoimmune diseases, including systemic lupus erythematosus (SLE), Sjogren’s syndrome and sarcoidosis. SLE is an autoimmune disease of unknown cause that affects multiple organs and tissues in the body. SLE may cause TM that may even be recurrent.", "diagnosis": "Diagnosis of TM is based on clinical and radiological findings. Clinical characteristics of myelopathy are signs and/or symptoms of sensory, motor or autonomic dysfunction attributable to the spinal cord. Evidence of inflammation either on MRI as gadolinium enhancement or on lumbar puncture as elevated CSF white blood cells, or the presence of oligoclonal IgG bands unique to the CSF or elevated IgG index, are frequently observed.", "therapies": "Intravenous Steroids"}
{"OrphaCode": "ORPHA:861", "name_zh": "下颌面骨发育不全", "Name": "Treacher-Collins syndrome", "disease_name": "Treacher Collins Syndrome", "synonyms": "Franceschetti-Zwalen-Klein syndrome", "disease-overview": "", "symptoms": "The symptoms and severity of TCS can vary dramatically from one person to another, even among members of the same family. Some individuals may be so mildly affected that they can go undiagnosed; others may have significant abnormalities and the potential for life-threatening respiratory complications. It is important to note that affected individuals may not have all the symptoms discussed below.", "causes": "TCS is caused by variants in the TCOF1, POLR1B, POLR1C or POLR1D genes. In the case of TCOF1 the mode of inheritance is autosomal dominant, although very rare cases of autosomal recessive inheritance have been observed. Variants in POLR1B are autosomal dominant, whereas in POLR1C they are autosomal recessive, and for POLR1D, can be autosomal dominant or autosomal recessive.", "affected": "TCS affects males and females in equal numbers. The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population. Some mildly affected individuals may go undiagnosed, making it difficult to determine the disorder’s true frequency in the general population. It is therefore highly recommended that the parents and perhaps siblings of a child affected with TCS in association with a variant in TCOF1, POLR1B, POLR1C or POLR1D, be tested even if they appear unaffected. This is important for future family planning. It should not be assumed that the variant in an affected child occurred spontaneously, just because each parent exhibits no facial differences. However, it should be noted that some individuals (approximately 10-15%) with the features and physical findings of TCS do not have variants in any of the four above mentioned genes, suggesting that variants in additional genes may also cause TCS.", "related-disorders": "Symptoms of the following disorders can be similar to those of TCS and comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of TCS is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic physical findings. Many associated characteristics such as malformation or absence of the external ear are present at birth (congenital).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3352", "name_zh": "毛发-牙齿-骨综合征", "Name": "Tricho-dento-osseous syndrome", "disease_name": "Tricho Dento Osseous Syndrome", "synonyms": "TDO Syndrome", "disease-overview": "", "symptoms": "TDO syndrome is characterized by abnormalities of the hair, teeth, bones and/or nails. In addition, infants and children with TDO syndrome have tight, kinky or curly hair that may also be unusually dry. Hair can straighten in childhood even by four years of age. The hair tends to remain unruly and wavy even after straightening from small tight curls.  Some individuals with the disorder also have unusually long eyelashes and eyebrows.", "causes": "TDO syndrome is a genetic disorder caused by a change (disease-causing variant) in the DLX3 gene. Several different variants in the DLX3 gene have been reported. This gene is a member of the distal-less homeobox gene family. The disorder occurs because of a deletion in this gene that leads to a DLX3 protein product that is shorter than normal and does not function normally. Research has shown that the DLX3 gene plays a role in the patterning of the part of the embryo that leads to the formation of skin, teeth and ectoderm, as well as the formation of bones. This explains the presentation of the symptoms associated with TDO syndrome.", "affected": "TDO syndrome is a rare inherited disorder that affects males and females in equal numbers. Approximately 12 affected families (kindreds) have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of tricho-dento-osseous syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Amelogenesis imperfecta is a group of genetic conditions in which the tooth enamel is underdeveloped (hypoplastic) or there is a decreased mineral content in the enamel (hypomineralization). Almost 20 different genes are involved in these conditions. Many different forms of the disorder have been classified, based upon varying types of enamel defects. Affected individuals may have abnormally thin, soft, pitted, and/or discolored tooth enamel; heightened susceptibility to disease of the structures surrounding and supporting the teeth (periodontal disease); increased sensitivity of the teeth to hot and cold temperatures; and/or early tooth loss. (For more information on this disorder, choose amelogenesis imperfecta as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:502", "name_zh": "毛发-鼻-指(趾)综合征2型", "Name": "Trichorhinophalangeal syndrome type 2", "disease_name": "Trichorhinophalangeal Syndrome Type I", "synonyms": "TRPS1", "disease-overview": "Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) pear-shaped nose, an abnormally small jaw (micrognathia), dental anomalies, and/or unusually large (prominent) ears. In most cases, the fingers and/or toes may be abnormally short (brachydactyly) and curved. In addition, affected individuals may exhibit short stature. The range and severity of symptoms may vary from case to case. In most cases, Trichorhinophalangeal syndrome type I has autosomal dominant inheritance.", "symptoms": "The range and severity of symptoms of individuals with trichorhinophalangeal syndrome type I may vary from case to case. Most cases are characterized by thin, sparse scalp hair, unusual facial features, and multiple abnormalities affecting the growing ends (epiphyses) of certain bones, especially those in the hands and feet.", "causes": "Trichorhinophalangeal syndrome type I is a rare genetic disorder with autosomal dominant inheritance. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Trichorhinophalangeal syndrome type I is an extremely rare inherited disorder that affects males and females in equal numbers. In those individuals with mild symptoms, a diagnosis may be easily missed or go unreported. Therefore, it is difficult to determine the true frequency of this disorder in the general population. Many researchers suspect there may be a higher incidence of TRPS1 than is actually reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Trichorhinophalangeal Syndrome Type I.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features (e.g., rounded [bulbous] nose; thin, sparse hair; etc.). The diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and X-ray studies of the skeleton that reveal distinctive abnormalities of the hands and feet (e.g., epiphyseal coning). Molecular genetic testing can reveal mutations of the TRPS1 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:502", "name_zh": "毛发-鼻-指(趾)综合征2型", "Name": "Trichorhinophalangeal syndrome type 2", "disease_name": "Trichorhinophalangeal Syndrome Type II", "synonyms": "Langer Giedion Syndrome", "disease-overview": "Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature (dwarfism); abnormally short fingers and toes (brachydactyly); cone-shaped formation of the growing ends of certain bones (epiphyseal coning); and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. In addition, affected individuals may exhibit unusually flexible (hyperextensible) joints, diminished muscle tone (hypotonia), excess folds of skin (redundant skin), and/or discolored elevated spots on the skin (maculopapular nevi). Affected individuals may also exhibit mild to severe mental retardation, hearing loss (sensorineural deafness), and/or delayed speech development. The range and severity of symptoms varies greatly from case to case. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8. The size of the deletion varies from case to case.", "symptoms": "The range and severity of symptoms varies among individuals with trichorhinophalangeal syndrome type II. Affected individuals will not have all of the symptoms listed below.  The most common symptoms include fine, thin hair; unusual facial features; short stature; abnormalities of the hands and feet; and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. Additional characteristic abnormalities may include mental retardation, diminished muscle tone (hypotonia), and/or skin abnormalities.", "causes": "With few exceptions, most cases of trichorhinophalangeal syndrome type II are the result of the absence of genetic material (chromosome deletions). Rarely, those with the syndrome have children. Two documented cases show that the deletion is inherited in an autosomal dominant manner.", "affected": "Trichorhinophalangeal syndrome type II is an extremely rare disorder that appears to affect males approximately three times as frequently as females. More than 60 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Trichorhinophalangeal Syndrome Type II.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "The diagnosis of trichorhinophalangeal syndrome type II may be suspected at birth in some cases by a thorough clinical evaluation and identification of characteristic features. Abnormalities that are usually present at birth include unusual facial features including a large, rounded (bulbous) nose, thin, sparse hair and/or excess skin. Molecular genetic testing can confirm a diagnosis of TRPS2 by identifying mutations of the TRPS1 or EXT1 genes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:77258", "name_zh": "毛发鼻指(趾)综合征1型和3型", "Name": "Trichorhinophalangeal Syndrome Type III", "disease_name": "Trichorhinophalangeal Syndrome Type III", "synonyms": "Sugio-Kajii Syndrome", "disease-overview": "Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the growing ends (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.", "symptoms": "The symptoms of trichorhinophalangeal syndrome type III may vary in range and severity from case to case.  Common symptoms include fine, thin light-colored hair; unusual facial features; multiple abnormalities affecting the growing ends (epiphyses) of the certain bones, particularly those in the hands and feet; severe shortening of the fingers and toes (brachydactyly); and/or additional skeletal abnormalities.", "causes": "Trichorhinophalangeal syndrome type III is inherited in an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Trichorhinophalangeal syndrome type III is an extremely rare disorder that, in theory, affects males and females in equal numbers. However, of the reported cases, most affected individuals have been female. Approximately 15 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Trichorhinophalangeal Syndrome Type III (TRPS3).  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Trichorhinophalangeal Syndrome Type I (TRPS1) is an extremely rare inherited multisystem disorder characterized with symptoms and physical features similar to those associated with TRPS3.  These may include fine, thin hair; a rounded (bulbous) pear-shaped nose; dental anomalies; multiple abnormalities of the growing ends (epiphyses) of bones, particularly in the hands and feet; abnormally short (brachydactyly) and curved fingers and toes; and/or short stature (dwarfism).  In most cases, the shortening of the fingers and toes in individuals with TRPS1 is typically much less severe than in individuals with TRPS3.  Trichorhinophalangeal Syndrome Type I has autosomal dominant inheritance.   (For more information on this disorder, choose Trichorhinophalangeal Syndrome Type I as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:33364", "name_zh": "毛发低硫营养不良", "Name": "Trichothiodystrophy", "disease_name": "Trichothiodystrophy", "synonyms": "", "disease-overview": "", "symptoms": "Pregnancy and newborn", "causes": "TTD is a genetically heterogenous condition. This means that mutations in several different genes may be responsible for the syndrome. Many patients with TTD have abnormalities in genes involved in the nucleotide excision repair pathway which is responsible for repairing DNA damage caused by ultraviolet radiation. The inability to repair DNA damage can lead to excessive sunburn in some patients and skin cancer in a few rare patients. These DNA repair genes also play a role in gene transcription, which is the first step in the process of creating proteins that tell the body how to function.", "affected": "TTD presents at birth. Males and females are affected in equal numbers. The estimated incidence is about 1 in 1,000,000 newborns in the United States and Europe. Over 100 patients have been reported worldwide. TTD has been reported in all ethnic groups.", "related-disorders": "Symptoms of the following disorders may resemble those of trichothiodystrophy. Comparisons may be useful for a differential diagnosis.", "diagnosis": "An initial evaluation for TTD involves a diagnostic work-up, including obtaining a detailed history of the patient’s prenatal and neonatal history. A thorough physical exam is performed to assess clinical features such as hair abnormalities, short stature, small chin, ichthyosis, intellectual impairment or developmental delay, cataracts, cryptorchidism (in males) and bone and teeth anomalies. Evaluation by a developmental pediatrician or neurologist may determine whether there is any developmental delay or intellectual disability. MRI imaging of the brain to identify abnormal patterns of myelination is often performed. Laboratory testing for immune function, blood count, low red blood cell MCV, elevated hemoglobin A2 level and iron levels can also be performed. TTD is often diagnosed by polarized light microscopy of hair shafts, revealing a tiger-tail pattern. The classical tiger-tail pattern alone usually is enough to diagnose TTD. However, there are other conditions with similar hair shaft abnormalities and often genetic testing is needed to confirm the diagnosis. Some patients with features of TTD will not have mutations in the known genes. They may have mutations in yet to be identified TTD associated genes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:221091", "name_zh": "三叉神经痛", "Name": "Trigeminal Neuralgia", "disease_name": "Trigeminal Neuralgia", "synonyms": "Fothergill Disease", "disease-overview": "", "symptoms": "The most significant symptom of trigeminal neuralgia is recurring episodes of intense, short-lived spasms of pain of the lower portion of the face and the jaw. The nose is not infrequently affected. Much less often, the eyes and forehead are affected. In most cases, pain is limited to one side of the face (unilateral). The pain has been compared to a series of electrical shocks followed by a steady dull ache. The pain often starts and stops rapidly. Intense pain usually lessens rapidly (usually within several seconds), but the following dull aching pain may persist for as much as one to two minutes. For many individuals, pain is completely gone in between episodes. However, for some individuals, even some individuals with TN1, some degree of pain may persist.", "causes": "The exact cause of trigeminal neuralgia is not fully understood. In most cases, the disorder results from a blood vessel pressing against the trigeminal nerve near the base of the brain. This compression may damage the nerve and cause excess bursts of neurological activity. The reason a blood vessel ends up pressing against the trigeminal nerve is not fully understood.", "affected": "Trigeminal neuralgia affects females slightly more often than males. Although the exact incidence is unknown, approximately 10,000-15,000 new cases occur each year in the United States. The disorder most frequently affects individuals more than 50 years of age. However, cases can occur in younger adults as well. In younger individuals, the cause is often idiopathic, but when compared to older adult cases are more likely to be caused by damage to the central nervous system as in individuals with multiple sclerosis. Although extremely rare, TN can occur in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of trigeminal neuralgia. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of trigeminal neuralgia is based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. TN should be suspected in individuals with facial pain affecting one side of the face. Because there is no specific diagnostic test for TN, physicians rely on individual’s personal history and description of symptoms when considering a diagnosis of TN.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:664901", "name_zh": "", "Name": "Trigeminal trophic syndrome", "disease_name": "Trigeminal Trophic Syndrome", "synonyms": "TTS", "disease-overview": "", "symptoms": "The following symptoms may develop in the areas of the face affected by TTS:", "causes": "TTS occurs after injury or damage to the trigeminal nerve. Symptoms can appear weeks to years after injury.", "affected": "Trigeminal trophic syndrome is an extremely rare diagnosis. Females are more often affected than males. TSS is more common in middle to late adulthood, but younger people are also diagnosed with this syndrome. The average age of diagnosis is 57 years. Until 2019, there were about 200 patients reported in the medical literature.", "related-disorders": "There are several disorders that have symptoms similar to TTS. These include:", "diagnosis": "Clinical Testing and Work-up", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:35056", "name_zh": "欧洲非罕见：臭鱼症", "Name": "Trimethylaminuria", "disease_name": "Trimethylaminuria", "synonyms": "fish odor syndrome", "disease-overview": "Trimethylaminuria is a rare disorder in which the body is not able to metabolize the chemical trimethylamine, and this causes body odor. Trimethylamine is the chemical that gives rotten fish a bad smell. When the normal metabolic process fails, trimethylamine accumulates in the body, and its odor is detected in the person’s sweat, urine and breath. The foul odor can be socially and psychologically damaging in adolescents and adults.", "symptoms": "The fish-odor smell is the obvious symptom; otherwise affected individuals appear normal and healthy.", "causes": "Primary trimethylaminuria is a rare metabolic disorder caused by changes (variants) in the FMO3 gene. Humans have several FMO genes, but only variants in FMO3 cause trimethylaminuria. For reasons that are unclear, many different variants of the FMO3 gene exist.", "affected": "Trimethylaminuria is a rare metabolic disorder. Several hundred cases have been reported in the medical literature. Some clinicians believe that the disorder is under-diagnosed since many people with mild symptoms do not seek help. However, some physicians do not recognize the symptoms of trimethylaminuria when a person with body odor seeks a diagnosis.", "related-disorders": "", "diagnosis": "The presence of the rotten-fish odor is indicative, especially in severe cases. However, diagnosis based on smell is unreliable because the odor is often episodic and not everyone can detect the smell of trimethylamine. In addition, based on smell, trimethylaminuria can be difficult to distinguish from other conditions that cause an unpleasant body odor. Diagnosis is based on urinary analysis of trimethylamine and trimethylamine N-oxide, which can distinguish between severe and mild cases. Urine analysis after the administration of large doses of trimethylamine can distinguish carriers of the condition from unaffected individuals. Genetic testing is available to distinguish between primary genetic trimethylaminuria, which will result in severe symptoms, and secondary, non-genetic forms of the disorder.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:868", "name_zh": "磷酸丙糖异构酶缺乏症", "Name": "Triosephosphate Isomerase Deficiency", "disease_name": "Triosephosphate Isomerase Deficiency", "synonyms": "TPI", "disease-overview": "Triosephosphate isomerase (TPI) deficiency is a rare genetic multisystem disorder. It is characterized by lack or reduced activity of the enzyme triosephosphate isomerase, an enzyme necessary for the breakdown (metabolism) of certain sugars in the body. Affected individuals experience low levels of circulating red blood cells due to premature destruction of red blood cells (hemolytic anemia) and severe, progressive neurological symptoms. Specific symptoms vary from case to case. Intellectual disability is a variable finding. Additional symptoms may develop including disease of the heart muscle (cardiomyopathy) and a susceptibility to developing chronic infections. Affected individuals usually develop life-threatening complications early during childhood. TPI deficiency is inherited as an autosomal recessive trait.", "symptoms": "The symptoms of TPI deficiency vary from case to case. The disorder is characterized by hemolytic anemia and progressive neurological findings. Hemolytic anemia occurs before birth (neonatally) in approximately half of the cases.", "causes": "TPI deficiency is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "TPI deficiency affects males and females in equal numbers. Approximately 30 to 50 cases have been reported in the medical literature since the disorder initial description in 1965.", "related-disorders": "Symptoms of the following disorders can be similar to those of TPI deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of TPI deficiency is suspected based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings. A diagnosis may be confirmed by molecular genetic testing that identifies the characteristic genetic mutation associated with TPI deficiency.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3376", "name_zh": "三倍体", "Name": "Triploidy", "disease_name": "Triploidy", "synonyms": "chromosome triploidy syndrome", "disease-overview": "", "symptoms": "Most fetuses (unborn babies) affected with triploidy are spontaneously miscarried early in the pregnancy. If the pregnancy continues to term, the baby dies within the first days of life. Infants affected with complete triploidy have the following signs and symptoms:", "causes": "Triploidy is the presence of a complete additional set of chromosomes. The triplication of the chromosomes is caused by the fertilization of an egg by two sperms, or the fertilization of an egg by a sperm that has an extra set of chromosomes or by the fertilization of an egg that has an extra set of chromosomes by a normal sperm. This disorder does not run in families and is not associated with maternal or paternal age.", "affected": "Triploidy occurs in about 1-3% of all pregnancies. About 2/3 of triploid pregnancies are male.", "related-disorders": "Symptoms of the following disorders are caused by duplication, triplication or deletion of chromosomes:", "diagnosis": "The presence of multiple major malformations, low amniotic fluid and/or growth restriction on fetal ultrasound during pregnancy raises the suspicion of triploidy. The diagnosis can be made during pregnancy by chromosome analysis (karyotyping) of cells obtained by amniocentesis or chorionic villus sampling (CVS). The diagnosis can be confirmed after birth by chromosome analysis of tissue (skin) obtained from the affected infant. Triploidy cannot be diagnosed by chromosome microarray testing. The accuracy of non-invasive prenatal testing using cell-free fetal (cff) DNA in the diagnosis of triploidy is still being studied. Abnormal levels of specific maternal blood proteins such as alpha-fetoprotein, human chorionic gonadotropin, estriol and pregnancy-assisted plasma protein-A have been associated with an increased risk for triploidy.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3377", "name_zh": "牙关紧闭-假性先天性指屈曲综合征", "Name": "Trismus-pseudocamptodactyly syndrome", "disease_name": "Trismus-Pseudocamptodactyly Syndrome", "synonyms": "TPS", "disease-overview": "", "symptoms": "TPS is a rare genetic disorder of muscle development and function. It is characterized by the inability to fully open the mouth (trismus), often resulting in problems with chewing. Although this is one of the most significant findings, it may not be as severe in some affected individuals. In those whom this abnormality is severe, limited and/or impaired chewing may cause difficulties with eating and proper digestion.", "causes": "TPS is an autosomal dominant disorder caused by changes in the MYH8 gene. All cases of TPS studied to date were found to have the same change in the MYH8 gene. This gene is involved in making the instructions for the development of the limb skeletal muscles and the muscles in the face.", "affected": "TPS affects females and males equally. However, twice as many affected females have been reported. The current prevalence rate of TPS is unknown. Approximately 11 families and over 300 individual cases have been reported since the disorder was first described in 1969. Of those cases, some have been traced to a Dutch female who came to the United States and settled in Tennessee during the eighteenth century. In addition, other reported cases have included five affected individuals in three generations of one Japanese family, six affected members of a German family. Affected individuals of families from the Netherlands, Canada, United Kingdom, Belgium, and Taiwan have also been reported.", "related-disorders": "Symptoms of the following genetic disorders can be similar to those of Trismus-Pseudocamptodactyly syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Freeman-Sheldon syndrome, is a rare, autosomal dominant disorder genetic condition that is apparent at birth (congenital). It is characterized by abnormal skeletal development and an unusual expressionless face with full cheeks and a small mouth, giving a typical whistling facial appearance. Symptoms may include permanent fixation of the fingers in a flexed position (camptodactyly), unusual outward positioning of the fingers (ulnar deviation of the fingers), and/or abnormal inward bending of the foot (clubfoot). In addition, affected individuals may have deep set and widely-spaced eyes, small nose and nostrils, small mouth, vertical folds in the jaw skin, and/or other facial features. In some cases, sideways curvature of the spine (scoliosis) may be present. Other skeletal malformations may become clear during X-ray or other imaging procedures. Individuals with Freeman-Sheldon syndrome are of normal height. (For more information on this disorder, search Freeman Sheldon syndrome in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3378", "name_zh": "13号染色体三体", "Name": "Trisomy 13 Syndrome", "disease_name": "Trisomy 13 Syndrome", "synonyms": "Chromosome 13, Trisomy 13 Complete", "disease-overview": "Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.", "symptoms": "Associated symptoms and findings may vary in range and severity from case to case.  However, Trisomy 13 Syndrome is often characterized by craniofacial, neurologic, heart (cardiac), and/or other defects.", "causes": "In individuals with Trisomy 13 Syndrome, all or a relatively large region of chromosome 13 is present three times (trisomy) rather than twice in cells.  In about five percent of cases, only a percentage of cells contains the extra 13th chromosome (mosaicism).", "affected": "Trisomy 13 Syndrome is sometimes called Patau Syndrome, after one of the researchers (Patau K) who identified the syndrome’s trisomic origin in 1960.  The syndrome appears to affect females slightly more frequently than males and occurs in about one in 5,000 to 12,000 live births.", "related-disorders": "Symptoms of the following disorders may be similar to those of Trisomy 13 Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pseudo-trisomy 13 Syndrome is a rare disorder characterized by holoprosencephaly; associated midline facial abnormalities; extra fingers and/or toes (polydactyly); and/or heart defects, such as atrial or ventricular septal defects.  In some cases, additional abnormalities may also be present, including genital defects; absence of the band of nerve fibers joining the two hemispheres of the brain (agenesis of corpus callosum); hydrocephalus; and/or other features. Although symptoms and findings are similar to those potentially associated with Trisomy 13 Syndrome, infants with this disorder do not have an extra chromosome 13 and their chromosomal studies appear normal.  Evidence suggests that this disorder may be inherited as an autosomal recessive trait.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3380", "name_zh": "18号染色体三体", "Name": "Trisomy 18", "disease_name": "Trisomy 18", "synonyms": "Edwards syndrome", "disease-overview": "Trisomy 18 is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some children, trisomy 18 may be present in only a percentage of cells, whereas other cells contain the typical chromosomal pair (mosaicism). Trisomy 18 is usually not inherited but occurs by chance.", "symptoms": "The symptoms associated with trisomy 18 are extremely variable. Severity can be dependent upon the percentage of cells that contain the third copy of the chromosome (mosaicism), but this percentage can change as a child grows as well as what type of sample was obtained (saliva versus blood for example). In many patients, there is decreased movement in utero. This may be due to polyhydramnios (excess amniotic fluid) during the mother’s pregnancy.", "causes": "Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered.", "affected": "Trisomy 18 affects females more frequently than males by a ratio of three or four to one. Large population surveys indicate that it occurs in about one in 5,000 to 7,000 livebirths. The frequency of trisomy 18 appears to increase with advancing maternal age. Reports indicate the mean maternal age is 32.5 years. There are also reports of mothers in their late teens and early 20’s.", "related-disorders": "Symptoms of the following disorder may be similar to those of trisomy 18. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Trisomy 13 is a chromosomal disorder in which all or a portion of chromosome 13 is present three times rather than twice in all or some cells of the body. Associated symptoms and findings may vary in range and severity. These infants have some similar characteristics to trisomy 18 infants, but in general the signs and symptoms are different. Affected infants typically are small for gestational age, have feeding difficulties and have various craniofacial malformations. These may include an abnormally small head (microcephaly) and a sloping forehead; wideness of the soft spots (fontanelles) at the front and back of the skull; incomplete closure of the lip and/or roof of the mouth (palate); a small jaw; scalp ulceration at the top of the head; low-set ears; small eyes (microphthalmia); and/or other eye defects such as colobomas. The disorder may also be associated with extra fingers and toes (polydactyly); failure of the forebrain to divide properly during embryonic development (holoprosencephaly); additional defects of the central nervous system; renal malformations; and/or heart defects. In most cases, trisomy 13 is due to errors during the division of reproductive cells in one of the parents. (For further information, choose trisomy 13 as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:555", "name_zh": "欧洲非罕见：乳糜泻", "Name": "Tropical Sprue", "disease_name": "Tropical Sprue", "synonyms": "Hill Diarrhea", "disease-overview": "Tropical Sprue is a rare digestive disease in which the small intestine’s ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional deficiencies and abnormalities in the mucous lining of the small intestine may be present. The exact cause of this disorder is not known, however it may be related to environmental and nutritional conditions in the tropical regions where it is most prevalent.", "symptoms": "The symptoms of Tropical Sprue may include fatigue and diarrhea with stools that are abundant, pale and foul-smelling.  People with this disorder may also experience a profound loss of appetite (anorexia), a sore tongue, night blindness, weight loss, a loss of strength and energy (asthenia) and general weakness.", "causes": "The exact cause of Tropical Sprue is not known.  It is an acquired disorder that may be related to environmental and nutritional factors, or Tropical Sprue may be related to an infectious organism (either viral or bacterial), dietary toxin, parasitic infestation, or a nutritional deficiency such as folic acid.  Tropical Sprue causes damage to the mucosal lining of the intestine resulting the impaired absorption of food, minerals, and water.", "affected": "Tropical Sprue is a rare disorder in temperate regions.  It occurs mainly in the tropical regions of the Caribbean, India, South Africa, and Southeast Asia.  Transients, tourists and visitors to these areas can be affected.", "related-disorders": "Symptoms of the following disorders can be similar to those of Tropical Sprue.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Malabsorption syndromes refer to a group of digestive disorders which are characterized by the impairment of absorption of nutrients and the excessive loss of nonabsorbed substances in the stool. There are many underlying diseases that are associated with these syndromes.  Symptoms vary directly with the severity of the disease.  Diarrhea and large volumes of fatty stools are consistent symptoms in people with malabsorption syndromes.", "therapies": "Treatment for Tropical Sprue includes the use of folic acid, cobalamin, and antibiotics such as tetracycline, oxytetracycline, or ampicillin. The dosage of these medications depends on the severity of the disorder as well as how the patient responds to the therapy. Combined therapy with folic acid and tetracycline seems to rapidly reduce the severity of the symptoms and also heal unhealthy tissue in the small intestine. Other nutrients may be given as needed (i.e., iron, vitamin B12). Diarrhea associated with this disorder may be controlled with anti-diarrhea agents."}
{"OrphaCode": "ORPHA:3384", "name_zh": "动脉干", "Name": "Common arterial trunk", "disease_name": "Truncus Arteriosus", "synonyms": "Buchanan's Syndrome", "disease-overview": "Truncus arteriosus is a rare type of heart disease that is present at birth. Affected individuals have one main blood vessel, rather than two, carrying blood away from the heart. Instead of having a separate pulmonary artery to carry blood to the lungs, and an aorta to carry blood to the rest of the body, a baby with truncus arteriosus has just one blood vessel leaving the heart which then branches into other blood vessels. Blood from both pumping chambers (ventricles) of the heart is mixed, resulting in a situation in which some oxygen-rich blood travels needlessly back to the lungs and some oxygen-poor blood travels to the rest of the body. The most common symptoms include a bluish tint to the skin (cyanosis) and rapid breathing (tachypnea). Standard treatment involves corrective open-heart surgery in the newborn period.", "symptoms": "At birth, infants may have symptoms including a bluish tint to the skin (cyanosis), rapid breathing (tachypnea) and poor feeding (sweating with feeds, needing to stop and take breaks and difficulty gaining weight). Most infants have a heart murmur – a sound heard when the heart is listened to with a stethoscope. Some infants may develop an accumulation of fluid in the face, arms and/or legs.", "causes": "A single cause of truncus arteriosus has not been identified. Like many congenital heart defects, it has been suggested that the interaction of multiple genetic and environmental factors lead to this disease. The malformation of the heart that characterizes truncus arteriosus occurs during embryonic development. Medical literature suggests that variants of transmembrane protein 260 (TMEM260), a protein coding gene, may be associated with the development of type I truncus arteriosus.", "affected": "Males and females are affected equally by this disease. This disorder occurs in approximately 1 in 15,000 births in the United States.", "related-disorders": "Similar congenital heart defects that are present in infancy with excessive blood flow to the lungs and congenital heart failure include ventricular septal defects (VSD), atrioventricular septal defects (AVSD) and patent ductus arteriosus (PDA). In patients with VSD, the wall (septum) separating the two ventricles is incompletely formed before birth and a hole between the pumping chambers (ventricles) persists. Patients with AVSD have a hole in the wall (septum) between the two upper chambers of the heart (atria). Patients with PDA have a persistent opening between the pulmonary artery (which carries blood to the lungs) and aorta (which carries blood to the rest of the body). This duct is a normal fetal connection that functionally closes within 24 hours of birth. Failure of this duct to close results in the excess blood flow to the lungs that characterizes PDA.", "diagnosis": "Truncus arteriosus can often be detected before the baby is born by prenatal ultrasound evaluation that a mother receives as part of her prenatal care. If it is not detected prenatally, the signs and symptoms described above (rapid breathing, cyanosis, heart murmur etc.) often lead to an evaluation of the baby after birth by a pediatric cardiologist and an echocardiogram (ultrasound of the heart) is performed which confirms the diagnosis. A recording of the heart’s electrical activity (electrocardiogram), a CT scan and/or cardiac catheterization may also be used to further evaluate the heart. Cardiac catheterization is a procedure that measures pressures and oxygen levels within the heart and surrounding blood vessels. Angiography is often performed during cardiac catheterization and involves injection of dye to visualize the flow of blood as it moves through the heart structures.", "therapies": "Open heart surgery is necessary for the infant to thrive and for long-term survival. This corrective surgery will separate the arteries, close the hole in the ventricular septum (VSD) and reattach the pulmonary artery to the ventricle wall via a valve-containing tube (conduit). Without surgery, about 85% of patients will not survive past one year of age. Patients will require regular follow-up evaluation with a cardiologist."}
{"OrphaCode": "ORPHA:3389", "name_zh": "结核", "Name": "Tuberculosis", "disease_name": "Tuberculosis", "synonyms": "Consumption", "disease-overview": "Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by a person infected with TB. The bacteria causes formation of small tissue masses called tubercles.  In the lungs these tubercles produce breathing impairment, coughing and release of sputum. TB may recur after long periods of inactivity (latency) if not treated adequately. Many variations of TB exist and are distinguished by the area of the body affected, degree of severity and affected population. This disease today is considered curable and preventable. It is very rare in the United States but is on an upsurge.", "symptoms": "Tuberculosis most commonly affects the lungs, producing breathing difficulties.  It may also affect the kidneys, bones, lymph nodes, and membranes surrounding the brain.  In some cases, it can spread throughout the body.  In the initial stages patients may experience fever, loss of appetite, weight loss, weakness, and sometimes a dry cough.", "causes": "Tuberculosis is a bacterial infection usually caused by either Mycobacterium tuberculosis or Mycobacterium bovis.  The Mycobacterium tuberculosis is the most common source of infection and is spread by airborne droplets breathed or coughed into the air by a person infected with active TB.  In the past the disorder was caused in most cases by Mycobacterium bovis, a bacteria which was passed to humans through dairy products.  Today, dairy and cattle are carefully inspected and tested for this type of TB, and infected products are not sold to the public in the United States.  However, in less developed countries the TB infection is still passed to humans through dairy products.", "affected": "In 1944, the Public Health Service launched a TB control program when the yearly number of cases in the United States averaged 126,000.  In 1985, the number of cases had dropped to 22,201.  However, health officials warn that TB is still a serious health problem, due in part to the rise of AIDS cases and the lowered resistance of AIDS patients to the TB infection.  There are still approximately 2,000 deaths annually from TB in the United States, which is more than from all other infectious diseases excluding pneumonia and influenza.", "related-disorders": "AIDS (Acquired Immune Deficiency Syndrome) involves progressive deterioration of the body’s ability to ward off infection.  Organisms which in a healthy person would either fail to cause disease, cause mild disease, or at least provoke immunity, can completely overwhelm the AIDS patient.  Patients with AIDS can contract various life-threatening infections such as pneumocystis carinii pneumonia and Tuberculosis (TB).  Additionally, they may develop a rare type of cancer called Kaposi’s Sarcoma.", "diagnosis": "", "therapies": "The continued testing of dairy herds as preventive therapy remains essential to the control of tuberculosis. Since some individuals with tuberculosis do not develop respiratory symptoms (latent tuberculosis), they often go undiagnosed and can potentially spread the disease. A tuberculin skin test, required for school age children in the United States, is also extremely useful in identifying unsuspected cases of TB. Researchers have developed blood tests that can identify latent cases of tuberculosis. These blood tests can be used alone or in combination with the tuberculin skin test."}
{"OrphaCode": "ORPHA:805", "name_zh": "复合型结节性硬化病", "Name": "Tuberous sclerosis complex", "disease_name": "Tuberous Sclerosis", "synonyms": "Bourneville Pringle Syndrome", "disease-overview": "Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ systems of the body. The skin, brain, eyes, heart, kidneys and lungs are frequently affected. These tumors are often referred to as hamartomas. Hamartoma is a general term for a tumor or tumor-like growth that is made up of cells normally found in the area of the body where the hamartoma forms. Hamartomas are not malignant; they do not typically metastasize and spread to other areas of the body. However, these abnormal growths can grow larger and can damage the affected organ system. The number, size, and specific location of these abnormal growths in individuals with tuberous sclerosis can vary widely and consequently the severity of the disorder can vary widely as well. Tuberous sclerosis results from alterations (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic or de novo) gene mutations, with no family history of the disease. Mutations within at least two different genes are known to cause tuberous sclerosis, the TSC1 gene or the TSC2 gene.", "symptoms": "Tuberous sclerosis is a highly variable disorder. The signs, symptoms, and severity of the disorder can vary dramatically from one person to another, even among members of the same family. This is due, in part, to the specific organ systems that are involved. Any organ system of the body can be affected. Tuberous sclerosis can cause mild disease in which individuals go undiagnosed into adulthood or it can cause significant complications that can impact quality of life or the disorder can cause potentially severe, life-threatening complications.", "causes": "Tuberous sclerosis is caused by an alteration (mutation) in one of two different genes, the TSC1 gene or the TSC2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain. Generally, alterations in the TSC2 gene result in a more severe disease expression.", "affected": "Tuberous sclerosis is a rare genetic disorder that affects 1 in 6,000 newborns in the United States. Approximately 40,000 to 80,000 people in the United States have tuberous sclerosis. The prevalence in Europe is estimated to be approximately 1 in 25,000 to 1 in 11,300. As many as 2 million people worldwide are believed to have the disorder. Males and females are affected in equal numbers and the disorder occurs in all races and ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of tuberous sclerosis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "The various symptoms of tuberous sclerosis are nonspecific and many can occur as isolated findings or as part of another syndrome or disorder. Examples of such disorders include hypomelanosis of Ito, Sturge-Weber syndrome, epidermal nevus syndromes, Birt-Hogg-Dube syndrome, multiple endocrine neoplasia, and various seizures disorders. Isolated brain tumors and cardiac myxoma as well as other tumors may need to be differentiated from tuberous sclerosis. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3392", "name_zh": "土拉杆菌病", "Name": "Tularemia", "disease_name": "Tularemia", "synonyms": "deerfly fever", "disease-overview": "Tularemia, is caused by infection with the bacterium Francisella tularensis, which is found in small mammals such as rodents and rabbits, and arthropods, such as ticks. The bacterium that causes tularemia is most often transmitted to humans by tick or biting fly bite, handling of an infected animal, or inhalation or ingestion of the bacterium. People have not been known to transmit the infection to others. The severity of tularemia varies greatly. Some cases are mild and self-limiting, others may have serious complications, and a small percentage (less than 2 percent) of cases in the United States is fatal.", "symptoms": "The symptoms of tularemia vary greatly among affected individuals. Some individuals may have no apparent symptoms (asymptomatic); others can develop serious complications affecting several organ systems with potentially life-threatening complications. After infection, the period of time it takes symptoms to appear (incubation period) is usually three to five days, but may take as long as two weeks.", "causes": "Tularemia is caused by the bacterium Francisella tularensis. Most cases occur from being bitten by flies or ticks carrying the bacterium or from exposure to tissue from an animal infected with the bacteria.", "affected": "Tularemia affects males and females, although the majority of cases are males, probably because of greater outdoor exposure opportunities. The disease is rare in the United States with approximately 100-200 new cases reported each year. Some researchers believe that many cases of tularemia often go unreported or misdiagnosed, making it difficult to determine the true frequency of this disease in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of tularemia. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Tularemia must be differentiated from other, more common causes of fever, chronic fatigue, weakness, and other nonspecific flu-like symptoms, and should be highly suspected in individuals in endemic regions who may have been exposed to infected animals or recently received a tick or biting fly bite.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:32960", "name_zh": "肿瘤坏死因子受体1相关周期性发热综合征", "Name": "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome", "disease_name": "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome", "synonyms": "autosomal dominant periodic fever with amyloidosis", "disease-overview": "Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a rare multisystem genetic disorder characterized by unexplained periodic episodes of fever associated with additional symptoms including muscle pain (myalgia), abdominal pain, headaches and skin rashes. The specific symptoms can vary greatly from one person to another. The duration of the characteristic episodes can also vary, lasting anywhere from a couple days to one week to more than one month. Onset is usually during infancy or childhood. TRAPS is caused by changes (variants or mutations) of the tumor necrosis factor receptor-1 (TNFRSF1A) gene that encodes the 55-kDa receptor for tumor necrosis factor (TNF) cytokine. Since its description in 1999, about 200 cases have been reported in the literature.", "symptoms": "The specific symptoms associated with TRAPS vary from one person to another. Nearly all affected individuals will develop recurrent episodes of high-grade fever, pain and inflammation. However, some individuals may only develop fever or only fever and abdominal pain. The duration of the episodes varies, but they usually last more than one week. Some individuals may experience constant inflammation.", "causes": "TRAPS can occur randomly due to a spontaneous genetic change (i.e., new variant) or it may be inherited in an autosomal dominant pattern (a variant that is received either from the father or the mother).", "affected": "TRAPS was first described in the medical literature in 1982 in a large Irish family and initially termed familial Hibernian fever. The name was later changed when numerous individuals from other ethnic groups were identified to have variants in the same gene, namely TNFRSF1A. TRAPS has been reported in individuals of many different ethnic groups. TRAPS is a rare disease that often goes undiagnosed or misdiagnosed making it difficult to determine the disorder’s true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of TRAPS. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of TRAPS is made based upon a thorough clinical evaluation, identification of characteristic symptoms (e.g., long lasting fever episodes) and blood tests for inflammatory markers. A diagnosis of TRAPS is usually confirmed by molecular genetic testing, which can identify either de novo or dominantly inherited variants in the TNFRSF1A gene. All TRAPS pathogenic variants are clustered in exons 2-4, which encodes the extracellular domain of the protein. Most are missense nucleotide changes that affect the folding of the extracellular domain. Pathogenic variants in other protein domains may be associated with different symptoms. There is also evidence for gonadal mosaicism (gene variants occur after conception) in TRAPS, which can be found in patients with late- onset symptoms.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99818", "name_zh": "Turcot综合征息肉病型", "Name": "Turcot Syndrome", "disease_name": "Turcot Syndrome", "synonyms": "Brain tumor-polyposis syndrome", "disease-overview": "Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system. Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. Affected individuals may also experience neurological symptoms, depending upon the type, size and location of the associated brain tumor. Some researchers believe that Turcot syndrome is a variant of familial adenomatous polyposis. Others believe that it is a separate disorder. The exact cause of Turcot syndrome is not known.", "symptoms": "Turcot syndrome is characterized by the formation of multiple benign growths (polyps) in the colon that occur in association with a primary brain tumor. These growths are associated with bleeding from the rectum, diarrhea, constipation, abdominal pain, and/or weight loss. The number and size of these polyps may vary greatly from case to case, ranging from fewer than 10 to more than 100.", "causes": "Recent research indicates that one type of Turcot syndrome is inherited as an autosomal recessive trait and the other as an autosomal dominant trait.", "affected": "Turcot syndrome affects males and females in equal numbers. Approximately 150 cases have been reported in the medical literature.", "related-disorders": "Symptoms of the following disorders can be similar to those of Turcot syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "A diagnosis of Turcot syndrome is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Because children of an affected parent have a genetic risk of developing Turcot syndrome, regular screening via sigmoidoscopy is required until approximately age 35 to 40 to help ensure early detection and prompt, appropriate treatment. During sigmoidoscopy, a viewing instrument is used to examine the rectum and the last part of the large intestine (sigmoid colon). In addition, in some cases, DNA testing may be available to help detect family members who have inherited certain changes (mutations) of the APC gene or DNA mismatch repair genes, potentially diagnosing the disorder before polyp development. In addition, x-rays of the large intestine may reveal the presence of polyps. X-rays of the brain may reveal the presence of a central nervous system tumor.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:881", "name_zh": "特纳综合征", "Name": "Turner syndrome", "disease_name": "Turner Syndrome", "synonyms": "45,X syndrome", "disease-overview": "", "symptoms": "The symptoms and severity of Turner syndrome can be quite variable from one person to another. Many features of the disorder are nonspecific, and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Turner syndrome is caused by a partial or complete loss (monosomy) of an X chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs. We receive one copy from each parent. Chromosomes are numbered from 1 through 22. The 23rd pair normally consists of one X and one Y chromosome for males and two X chromosomes for females. Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes, including two X chromosomes (46, XX karyotype). Each chromosome has a short arm designated p and a long arm designated q. Chromosomes are further sub-divided into many bands that are numbered.", "affected": "Turner syndrome affects approximately 1 in 2,000-2,500 live female births. It is estimated that more than 70,000 females in the United States have Turner syndrome. There are no known racial or ethnic factors that influence frequency of the disorder. In some people, the disorder is diagnosed before birth or shortly after birth. However, mild cases can remain undiagnosed until later in life and even during adulthood.", "related-disorders": "Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low posterior hairline; a typical chest deformity and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a depressed nasal root; a short nose with broad base; and low-set, posteriorly rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, learning difficulties or mild intellectual disability, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings. Noonan syndrome is an autosomal dominant genetic disorder caused by abnormalities (mutations or pathogenic variants) in multiple single genes that make up the rasopathy pathway. Some symptoms associated with Noonan syndrome may superficially resemble those with Turner syndrome (due to certain findings that may be associated with both disorders, such as short stature, webbed neck, etc.). Consequently, in the past, Noonan syndrome has been referred to as male Turner syndrome, female pseudo-Turner syndrome, or Turner phenotype with normal chromosomes karyotype. However, there are many important differences between the two disorders. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome. (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.)", "diagnosis": "A detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Turner syndrome should be suspected in girls with growth deficiency or short stature of unknown cause.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:617294", "name_zh": "", "Name": "Twin anemia-polycythemia sequence", "disease_name": "Twin Anemia Polycythemia Sequence", "synonyms": "TAPS", "disease-overview": "Twin anemia polycythemia sequence (TAPS) is a rare but severe complication in identical twin pregnancies that share a single placenta (monochorionic). TAPS is caused by an imbalance in red blood cells exchanged between the twins through tiny placental blood circulations (anastomoses). This leads to too few red blood cells (anemia) in the donor twin and too many red blood cells (polycythemia) in the recipient twin. TAPS was first described in 2006,1 and being a relatively new disease; it is sometimes confused with the better-known twin-to-twin transfusion syndrome (TTTS).", "symptoms": "Before birth, TAPS may go undetected due to lack of symptoms and the lack of excess amniotic fluid  (polyhydramnios) like in TTTS. TAPS can be detected using Doppler ultrasound examination, focusing specifically on the blood flow (peak systolic velocity, PSV) in the middle cerebral artery (MCA). In the donor, the MCA-PSV is increased as a sign of fetal anemia. In the recipient, the MCA-PSV is decreased as a sign of polycythemia.", "causes": "Tiny blood vessels in the shared placenta that connects the babies’ umbilical cords and blood circulations (anastomoses) cause TAPS. These connections are present in all monochorionic twin pregnancies. In most cases, the blood flow stays relatively balanced through these connecting blood vessels. However, in TAPS, the blood between the two babies is not balanced. One baby, the donor, gives more blood to the other, the recipient, leading to the donor becoming anemic and the recipient polycythemic.", "affected": "TAPS is a rare disorder affecting a small number of monochorionic twin pregnancies. Many cases go undiagnosed and unrecorded; the actual frequency is unknown.", "related-disorders": "Symptoms of the following disorders can be similar to those of twin anemia polycythemia sequence. Comparisons may be helpful to show the differences.", "diagnosis": "TAPS can be detected during pregnancy  by Doppler ultrasonography. Ultrasound findings in TAPS include twins of the same gender; a single, shared placenta (monochorionic), a thin membrane dividing the babies’ amniotic sacs; no differences in amniotic fluid (TTTS); and the presence of discordant MCA-PSV Dopplers.", "therapies": "Outcome and Treatment"}
{"OrphaCode": "ORPHA:95431", "name_zh": "双胎输血综合征", "Name": "Twin to twin transfusion syndrome", "disease_name": "Twin-Twin Transfusion Syndrome", "synonyms": "fetal transfusion syndrome", "disease-overview": "Twin-twin transfusion syndrome (TTTS) is a rare disorder that sometimes occurs when women are pregnant with identical (monozygotic) twins. It is a rare disease of the placenta, the organ that joins the mother to her offspring and provides nourishment to the developing fetuses. During the development of identical twins, there are always blood vessels in the fetuses’ shared placenta that connect their blood circulations (placental anastomoses). In most cases, the blood flows properly through these vessels. However, in twin-twin transfusion syndrome, the blood begins to flow unevenly, with one fetal twin receiving too much blood (recipient) and one receiving too little (donor). The recipient twin may experience heart failure due to continual strain on its heart and blood vessels (cardiovascular system). The donor twin, on the other hand, may experience life-threatening anemia, insufficient nutrition and oxygen due to its inadequate supply of blood. Such an imbalance in blood flow (i.e., twin-twin transfusion) can occur at any time during the pregnancy, including during delivery.", "symptoms": "Twin-twin transfusion syndrome (TTTS) is a rare disorder that sometimes occurs when women are pregnant with identical (monozygotic) twins. TTTS is a disease of the placenta, the organ that develops in the uterus during pregnancy, links the mother’s blood supply to the fetuses’, and provides nourishment to her offspring. The developing fetal twins are typically normal until abnormalities in blood flow within the placenta cause the TTTS disease process to occur.", "causes": "The exact cause of TTTS is not fully understood. However, it is known that abnormalities during division of the mother’s egg after it has been fertilized lead to the placental abnormalities that can ultimately result in twin-twin transfusion syndrome.", "affected": "TTTS is a rare disorder that sometimes occurs when a mother is pregnant with identical (monozygotic) twins. There have been a few reported cases in which TTTS also affected identical triplets. Twin-twin transfusion syndrome affects approximately 5 to 15 percent of identical twin pregnancies, meaning that approximately 6,000 babies may be affected each year. However, it is difficult to determine the true frequency of TTTS in the general population since many cases are never diagnosed and many go unrecorded.", "related-disorders": "Symptoms of the following disorders can be similar to those of twin-twin transfusion syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "TTTS can be detected during mid-pregnancy (second trimester) by ultrasonography, an instrument that creates a fetal image by measuring the reflection of sound waves. Ultrasound findings that may indicate twin-twin transfusion syndrome include the presence of same-sex twins; a single, shared placenta (monochorionic), a thin membrane dividing the fetuses' amniotic sacs; differences in the amount of amniotic fluid with polyhydramnios (defined as a largest vertical pocket of fluid greater than 8 cm in the larger twin) and oligohydramnios (defined as a largest vertical pocket of less than 2cm in the smaller twin), and a size difference of greater than 20%. Present staging or classification of the severity of the disease currently follows that proposed by Quintero in 1999. This staging system has been a useful tool to allow physicians to compare treatment results and for choosing between different management strategies as it incorporates the worsening severity of the disease process in each of the increasing stages. It does, however, create the impression that the natural history of TTTS follows an orderly progression over time. Unfortunately, clinical experience has shown that this is not the case and progression of the disease processes are highly variable and somewhat unpredictable. This staging system also does not include elements describing the fundamental cardiovascular changes that are key to understanding the disease and are present in subtle forms even at the earliest stages of the disease process.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99745", "name_zh": "伤寒", "Name": "Typhoid", "disease_name": "Typhoid", "synonyms": "Enteric Fever", "disease-overview": "Typhoid fever is a bacterial infection that is rare in the United States. However, it is not rare in many other countries. Major symptoms may include unusually high fever, headache, loss of appetite, fatigue, abdominal pain and diarrhea.", "symptoms": "Typhoid is an intestinal infection caused by the bacterium Salmonella typhi. Antibodies to the bacteria can be detected in the blood (Widal’s test). Salmonella typhi can be cultured from the patient’s blood, urine and feces as well.  The infection incubates for one or two weeks.  A gradual development of headache, loss of appetite, fatigue and constipation occurs.   During the following weeks there is a gradual rise in temperature to about 104 F, abdominal pain, a slowed pulse rate, nosebleeds, rose-colored spots on the chest and diarrhea.  Intestinal ulceration and bleeding can lead to anemia and peritonitis.  These conditions may be fatal if the patient is left untreated.  Heart failure may also occur.", "causes": "Typhoid is caused by the bacterium Salmonella Typhi.  It is the most serious of the Salmonella infections.  Contaminated food or water is most often the source of a Typhoid outbreak.  Contact with a carrier of the bacterium, polluted water, infected food or milk, shellfish harvested from polluted water, or fresh vegetables grown in contaminated soil are all sources of the Salmonella Typhi bacterium.  People who have had Typhoid are carriers until the bacteria is completely gone from their body.  If they touch food served to other people when their hands are not properly washed, they can spread Typhoid to those who eat the food.", "affected": "Typhoid affects males and females in equal numbers.  In the United States there are only about 500 cases of typhoid diagnosed each year, and over 62% of these are contracted in other countries.  The major sources of cases in the United States between the years 1975-1984 were Mexico (39%) and India (14%).  In Mexico, Latin America, Asia, Africa and the Middle East where the fatality rate is as high as 10% each year, typhoid is still a serious health problem.  In the U.S., outbreaks are usually traced to a typhoid carrier in the food handling business (e.g. restaurants, hotels, etc.).", "related-disorders": "Symptoms of the following disorders can be similar to those of Typhoid fever. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Salmonella poisoning is a form of gastroenteritis. It is the most common cause of outbreaks of foodborne disease in the United States.  This bacteria may infect meat, dairy and vegetable products.  Outbreaks are most common in warm weather and in children under the age of seven.  Nausea, vomiting, and chills are the most common initial symptoms.  These are followed by abdominal pain, diarrhea and fever which may last from five days to several weeks.  The CDC estimates that there are approximately 2 to 4 million Salmonellosis cases in the United States each year.", "therapies": "Typhoid is treated with the antibiotic drugs chloramphenicol, ampicillin, cefoperazone, pefloxacin, co-trimoxazole or trimethoprim-sulfamethoxazole. Precautions to take, especially when visiting countries with unsanitary conditions, includes the practice of good personal hygiene and careful washing of hands. Avoid drinking untreated water, drinks served with ice, unpeeled fruits and vegetables, and other food that is cooked and not served hot. In food preparation; wash and sanitize utensils in hot water; carefully clean cutting boards, work areas and equipment; keep hot foods at 165 F and cold foods at 40 F or colder to avoid the possible growth of bacteria in food. Typhoid vaccination and food precautions are necessary before traveling to developing countries where this kind of disease is prevalent."}
{"OrphaCode": "ORPHA:101150", "name_zh": "常染色体隐性遗传多巴反应性肌张力障碍", "Name": "Autosomal recessive dopa-responsive dystonia", "disease_name": "Tyrosine Hydroxylase Deficiency", "synonyms": "autosomal recessive dopa-responsive dystonia", "disease-overview": "Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder characterized by a wide spectrum of symptoms. These symptoms can vary widely in people who are affected, and even among members of the same family. Common symptoms include an uncoordinated manner of walking (abnormal gait) and dystonia. Dystonia is a general term describing involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). In THD, dystonia usually affects the legs, but can include other parts of the body (generalized dystonia). Additional symptoms may include a tendency to walk on tiptoes, difficulty walking, tremors, eye abnormalities, muscle weakness (hypotonia) and intellectual disability. However, there are fewer than 100 case reports of individuals with THD in the medical literature, so it is difficult to predict all the features of the disorder.", "symptoms": "THD represents a spectrum of disease, and the symptoms can vary greatly from one person to another. In the severe form, symptoms may be obvious early in infancy. In more moderate or mild cases, symptoms may arise later during infancy or even during early childhood.", "causes": "THD is caused by mutations of the tyrosine hydroxylase (TH) gene and is inherited in an autosomal recessive pattern.", "affected": "The exact incidence of THD in the general population is unknown. Approximately 100 cases have been reported in the medical literature. Researchers believe that the disorder is often misdiagnosed or goes undiagnosed, making it difficult to determine its true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of tyrosine hydroxylase deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of THD is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic findings and a variety of specialized tests. These tests include examination of cerebrospinal fluid (CSF) to detect certain substances (metabolites) that are byproducts of metabolism. Identification of certain metabolites at specific levels can help to distinguish THD from other related neurotransmitter disorders. A sample of CSF is obtained through a procedure called a spinal tap (lumbar puncture) in which a needle is inserted into the spinal canal in the lower back.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:882", "name_zh": "酪氨酸血症1型", "Name": "Tyrosinemia type 1", "disease_name": "Tyrosinemia Type 1", "synonyms": "FAH deficiency", "disease-overview": "Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine. Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease. Tyrosine may also accumulate in the kidneys and central nervous system.", "symptoms": "Symptoms associated with tyrosinemia type I often vary greatly from person to person. Infants with tyrosinemia type I typically present with either the acute or chronic form of the disorder.", "causes": "Tyrosinemia is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene that is responsible for the production of the FAH enzyme. Deficiency of this enzyme leads to an accumulation of fumarylacetoacetate and accumulation of tyrosine and its metabolites in the liver, kidney, and central nervous system eventually causing tyrosinemia type I.", "affected": "Tyrosinemia type I affects males and females in equal numbers. The prevalence has been estimated to be 1 in 100,000 to 120,000 births worldwide. In Quebec, Canada, the birth prevalence is estimated to be 1/16,000. The estimated prevalence in the Saguenay-Lac Saint-Jean region of Quebec is one in 1,850 births. In Norway, the birth prevalence is estimated to be 1 in 60,000 births.", "related-disorders": "Signs and symptoms of the following disorders can be similar to those of tyrosinemia type I. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Acute intermittent porphyria (AIP) is one of a group of inherited metabolic disorders known as the porphyrias. AIP is characterized by the deficiency of the enzyme porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. Symptoms may include severe abdominal pain, nausea, vomiting, and constipation. Neurological symptoms similar to tyrosinemia type I may also be present including pain in arms and legs, muscle weakness, rapid heart rate, and increased blood pressure. Affected individuals may also experience hallucinations and seizures. AIP is inherited as an autosomal recessive genetic condition (For more information on this disorder, choose acute intermittent porphyria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:771", "name_zh": "欧洲非罕见：溃疡性结肠炎", "Name": "Ulcerative Colitis", "disease_name": "Ulcerative Colitis", "synonyms": "Chronic Non-Specific Ulcerative Colitis", "disease-overview": "Ulcerative colitis is an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the disease progresses, some or all, of the colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young adulthood, some individuals may experience an initial episode between ages 50 to 70. In other cases, symptom onset may occur as early as the first year of life.", "symptoms": "In most cases, the symptoms associated with ulcerative colitis develop gradually; however, in some individuals, symptom onset may be rapid and severe (fulminant). Although the disorder is usually characterized by repeated recurrences and periods of remission, some affected individuals may have infrequent episodes and others may have severe symptoms that are ongoing.", "causes": "The exact cause of ulcerative colitis is not known. However, researchers indicate that genetic, immunologic, infectious, and/or other factors may play some contributing role. Because the disorder more commonly occurs in particular populations, such as in people of Jewish descent, and within certain families (kindreds), researchers suggest that genetic predisposition may be a factor in development of the disease. Some indicate that a genetic predisposition may lead to an abnormal intestinal immune response to particular infectious or other environmental agents. However, despite much research in this area, a specific bacterial, viral, fungal, or other infectious cause has not been identified. In addition, no causative immunologic abnormalities specific to ulcerative colitis have been determined.", "affected": "Ulcerative colitis affects males and females in equal numbers. In the United States and Western Europe, the frequency (i.e., prevalence) of the disease is approximately 70 to 150 cases per 100,000 in the general population. Although symptoms associated with the disorder typically begin between the ages of approximately 15 to 35 years, some people may experience an initial episode between ages 50 to 70. In other cases, symptom onset may occur as early as the first year of life.", "related-disorders": "Symptoms of the following disorders may be similar to those of ulcerative colitis. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Crohn’s disease is an inflammatory bowel disease (IBD) characterized by chronic inflammation that typically affects the entire thickness of the intestinal wall. (As mentioned above, ulcerative colitis is usually limited to the lining of the colon [except in cases of toxic megacolon and perforation].) Diseased regions may be separated by apparently normal areas (skip lesions). Although Crohn’s cisease most commonly affects the lowest region of the small intestine (ileum) or the colon, it may involve any region of the gastrointestinal tract. In those with the disorder, chronic inflammation typically leads to thickening, scarring, and ulceration of the intestinal wall.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2704", "name_zh": "Ochoa综合征", "Name": "Urofacial syndrome", "disease_name": "Urofacial Syndrome", "synonyms": "Ochoa syndrome", "disease-overview": "", "symptoms": "As the term urofacial suggests, the disorder is characterized by urinary and facial problems. The initial finding that may be apparent in affected infants is an unusual inverted facial expression. When affected infants attempt to laugh or smile, their facial musculature inverts so that they appear to be grimacing or crying. The symptoms and severity of urofacial syndrome can vary greatly, even among affected members of the same family.", "causes": "Urofacial syndrome is caused by changes (mutations or pathogenic variants) in one of two different genes, the HPSE2 gene or the LRIG2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Urofacial syndrome affects males and females in equal numbers. More than 150 cases have been reported in the medical literature. According to the literature, most families are from Columbia although affected families have also been reported in Turkey, the United States, the United Kingdom, Kuwait, Denmark, Germany, Netherlands, Australia and Spain.", "related-disorders": "Symptoms of the following disorders can be similar to those of urofacial syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hinman syndrome, also known as Hinman-Allen syndrome or non-neurogenic neurogenic bladder, is a rare voiding disorder that is believed to be neuropsychological in origin as no neurologic deficit is present. Affected individuals exhibit extremely similar clinical features to those seen in individuals with urofacial syndrome, except for abnormalities in facial expression, which does not occur.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:598216", "name_zh": "Upper tract urothelial carcinoma", "Name": "Upper tract urothelial carcinoma", "disease_name": "Urothelial carcinoma of the renal pelvis and ureter", "synonyms": "Transitional cell carcinoma of the renal pelvis and ureter", "disease-overview": "Urothelial cell (UC) cancers of the renal pelvis and ureter are relatively rare (approximately 2 per 100,000 people) and make up approximately 5% of transitional cell cancers in the urinary tract. Of these 2 locations – the renal pelvis (located in the kidney) and the ureters (which connect the kidney to the bladder) – UC occurs twice as often in the renal pelvis. The most common initial symptom for these types of cancer is blood in the urine (hematuria). Risk factors for UC include smoking, genetics, painkiller abuse, excessive coffee drinking, and cyclophosphamide (a drug used in chemotherapy). Surgery is the most common treatment for these cancers, however higher stage cancers may also require chemotherapy or radiation. These cancers may most commonly spread down towards the bladder and can spread (metastasize) to other organs. The prognosis after surgery varies and highly depends on the cancer stage and a patients’ risk factors.", "symptoms": "Painless blood in the urine (hematuria) is the most common symptom in patients with transitional cancers of the upper urinary tract. Other less common symptoms include lower back pain, pain with urination, or unexplained weight loss.", "causes": "Urothelial cell cancer is thought to be caused by a mutation leading to the loss of a tumor suppressor gene. Losing a tumor suppressor gene is like taking the brakes off a car, allowing cells to replicate uncontrollably, resulting in cancer. Cancers may be classified as low-grade or high-grade.  Low-grade cancers are associated with mutations leading to a loss of functioning tumor suppressor genes such as p53, p19 and p16. High-grade cancers have additional mutations such as the loss of the RB1 tumor suppressor gene. More aggressive cancers tend to spread initially towards the bladder and may metastasize (spread) to other organs. Notably, loss of certain tumor suppressor genes (such as those listed above) does not reflect the patient prognosis (predicted outcome) and scientists are still studying how the loss of certain genes can affect prognosis in patients with different mutations. Due to family genetics, some people may be predisposed to loss of these tumor suppressor genes compared to others. Patients with Lynch syndrome are at an increased risk for transitional cell cancers.", "affected": "The average age of patients who develop upper urinary tract urothelial tumors is 65 years, and one’s risk of this cancer increases to a peak in their 70’s-80’s. Urothelial tumors are 3 times more common in men than women and twice as common in people of European descent compared to people of African descent. Patients with a smoking history are at highest risk for these cancers. A family history of transitional cell cancer, especially when a family member was diagnosed at a young age (<45 years old) without a history of smoking and/or Lynch syndrome may increase the risk for transitional cell cancers as well.", "related-disorders": "Related Disorders", "diagnosis": "Doctors will usually start by running urine and blood tests to check kidney function, liver function, bladder function, and assess for infection. They will also usually obtain some imaging such as a CT scan, which may show an irregular mass blocking the ureter or kidney suggestive of cancer. Doctors may get additional imaging tests such as a CT using contrast, known as a CT urogram. If the cancerous mass is small and is not obstructing the renal pelvis or ureters, it may not be initially detected by these imaging tests. A urologist, which is a doctor specializing in the urinary tract, may perform a procedure called a uroscopy, which is the use of a flexible scope inserted through the urethra (opening in the penis or above the vagina through which urine leaves the body) to directly visualize the cancerous mass in the ureter or renal pelvis and may remove small bits of tissue for further testing. Once a diagnosis is confirmed, doctors will stage the cancer by performing more imaging scans to see if it has spread to other parts of the body such as the lungs or lymph nodes. To help with staging, doctors may also perform genetic tests, urine cell tests, and biopsies.", "therapies": "The standard of therapy for transitional cell cancer of the renal pelvis and ureter is surgery. The most common surgery is known as a radical nephroureterectomy in which the kidney, ureter, adrenal gland, and nearby lymph nodes are removed. The surgery may be done laparoscopically via a camera with small incisions or robotically to minimize the complications and decrease hospitalization length, but larger or more aggressive tumors may require an open surgery. Most people fully recover from a nephroureterectomy within 6 weeks. Lower grade tumors may instead undergo an ablation of the tumor using a laser or a ureterectomy in which only a part of the ureter is removed to preserve the kidney function. The major risks associated with these surgeries include injury to major blood vessels or nerves, infection, side effects of anesthesia such as nausea and vomiting, and blood loss. Following radical nephroureterectomies, recurrence of the original cancer is not common but UC may arise in other parts of the urinary system such as the bladder. Patients should follow up with their doctor routinely to check for bladder cancer using a cystoscopy and selective urine cytology. The frequency of follow-up may depend on the stage of the original cancer as well as the likelihood for a recurrence. Most patients should follow-up every 3 months after their surgery during the first year and every six months after that."}
{"OrphaCode": "ORPHA:886", "name_zh": "Usher综合征", "Name": "Usher syndrome", "disease_name": "Usher Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "Usher syndrome is characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound) input to the brain (sensorineural hearing loss) as well as abnormal accumulation of colored (pigmented) material on the nerve-rich membrane (the retina) lining the eyes (retinitis pigmentosa or RP). RP eventually causes retinal degeneration leading to progressive loss of vision and legal blindness. Sensorineural hearing loss may be profound or mild and may be progressive. The vision loss caused by RP may begin during childhood or later during life, and often first presents with difficulty seeing at night or in low light (night blindness). Studies show that clear central vision may be maintained for many years even while side (peripheral) vision decreases. These narrowed visual fields are also referred to as tunnel vision. Issues with balance are seen mainly in individuals with Usher syndrome types 1 and 3, although balance difficulties in Usher syndrome type 2 have been reported.", "causes": "Usher syndrome is caused by changes (variants or mutations) in specific genes. So far, Usher syndrome has been associated with variants in at least nine genes:", "affected": "Usher syndrome is the most common genetic disorder involving both hearing and vision abnormalities and affects approximately three to ten in 100,000 people worldwide. Higher than average numbers of people with Usher syndrome have been found among Jewish people in Israel and Germany; French Canadians of Louisiana; Argentineans of Spanish descent and Nigerian Africans. USH3, the rarest form in most populations, comprises about 40% of Usher patients in Finland. Usher syndrome types 1 and 2 account for approximately 10 percent of all cases of bilateral (both ears) moderate to profound deafness in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of Usher syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Alström syndrome is an inherited disorder characterized by retinal degeneration with nystagmus and loss of central vision. This disorder is associated with obesity in childhood. Sensorineural deafness and diabetes mellitus tend to develop after the age of ten years. (For more information on this condition, choose Alström as your search term in the Rare Disease Database.)", "therapies": NaN}
{"OrphaCode": "ORPHA:500055", "name_zh": "16p13.2微缺失综合征", "Name": "Hao-Fountain syndrome due to 16p13.2 microdeletion", "disease_name": "USP7-Related Diseases", "synonyms": "chromosome 16p13.2 deletion syndrome", "disease-overview": "", "symptoms": "The symptoms and severity of USP7-related diseases can vary from one person to another. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. Often this requires input from a clinical geneticist or genetic counselor to supply the most recent and accurate information about the disorder and discuss genetic testing options or treatment plans.", "causes": "Overview", "affected": "USP7-related diseases are extremely rare disorders that have been described in only 25 families worldwide. The incidence and prevalence of the disorder is unknown. It is likely that people with these disorders go undiagnosed or misdiagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS) are two other genetic multisystem disorders characterized by intellectual disability, hypotonia, and hypogonadism. USP7-related diseases and SYS also share an increased prevalence of autism; however, the prevalence of joint contractures is higher in SYS than in USP7¬-related diseases. In addition, though some families have described hyperphagia and lack of satiety in their children with USP7-related diseases, the prevalence is not known and these features are not as pronounced as what is seen in classic PWS. Furthermore, individuals with USP7-related diseases do not seem to manifest the corresponding morbid obesity typically present in PWS individuals.", "diagnosis": "USP7 mutations are diagnosed through either whole exome sequencing, USP7 sequencing, or chromosome microarray analysis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:64720", "name_zh": "平滑肌肉瘤", "Name": "Uterine Leiomyosarcoma", "disease_name": "Uterine Leiomyosarcoma", "synonyms": "leiomyosarcoma of the uterus", "disease-overview": "A uterine leiomyosarcoma is a rare malignant (cancerous) tumor that arises from the smooth muscle lining the walls of the uterus (myometrium). There are essentially two types of muscles in the body: voluntary and involuntary. Smooth muscles are involuntary muscles; the brain has no conscious control over them. Smooth muscles react involuntarily in response to various stimuli. For example, the myometrium stretches during pregnancy to help accommodate the fetus and contracts during labor to help push out a baby during childbirth. Leiomyosarcoma is a form of cancer. The term cancer refers to a group of diseases characterized by abnormal, uncontrolled cellular growth that invades surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the lymphatic system, or other means. Different forms of cancer, including leiomyosarcomas, may be classified based upon the cell type involved, the specific nature of the malignancy, and the disease’s clinical course. Leiomyosarcoma is classified as a soft tissue sarcoma. Sarcomas are malignant tumors that arise from the connective tissue, which connects, supports and surrounds various structures and organs in the body. Soft tissue includes fat, muscle, never, tendons, tissue surrounding the joints (synovial tissue), and blood and lymph vessels. The exact cause of leiomyosarcoma, including uterine leiomyosarcoma, is unknown.", "symptoms": "Symptoms of uterine leiomyosarcoma may vary from case to case depending upon the exact location, size and progression of the tumor. Many women will not have any apparent symptoms (asymptomatic). The most common symptom is abnormal bleeding from the vagina and the uterus. Postmenopausal bleeding is an important factor that may indicate a uterine leiomyosarcoma.", "causes": "The exact cause of uterine leiomyosarcoma is unknown. They often occur spontaneously, for no apparent reason. In extremely rare cases, some researchers believe they may signify a malignant change (transformation) of a benign (noncancerous) fibroid. However, other researchers argue that malignant transformation of fibroids is unproven. Fibroids are the most common tumors affecting women and often appear during childbearing years. Fibroids may also be known as leiomyomas or myomas. Most fibroids do not cause any symptoms or complications.", "affected": "Uterine leiomyosarcoma is an extremely rare form of cancer, estimated to occur in 6 out of every 1,000,000 women in the United States each year. The average age at diagnosis is 51. Uterine leiomyosarcomas account for 1-2 percent of all malignant tumors of the uterus.", "related-disorders": "Symptoms of the following disorders can be similar to those of uterine leiomyosarcoma. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of a uterine leiomyosarcoma is most commonly made incidentally when affected individuals are operated on for benign smooth muscle tumors of the uterus (leiomyomas or fibroids). The pathologic review of the fibroid surgery specimens may reveal certain characteristics under the microscope that are more characteristic of a leiomyosarcoma than a benign myoma. Thus, pathologic review is key diagnostic aspect is distinguishing malignant leiomyosarcoma from its benign counterpart, the leiomyoma.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:887", "name_zh": "VACTERL/VATER联合征", "Name": "VACTERL/VATER association", "disease_name": "VACTERL Association", "synonyms": "VATER association", "disease-overview": "VACTERL association is a nonrandom association of birth defects that affects multiple anatomical structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:", "symptoms": "VACTERL association involves multiple anatomical defects. These defects are congenital and may be obvious at birth (e.g., anal atresia, tracheoesophageal fistula and esophageal atresia, radial defects) or not become recognized until later (e.g., cardiac, vertebral, and renal malformations). The combination of malformations may vary greatly from one child to another and an affected child will typically not have all of the malformations listed below.", "causes": "The exact cause of VACTERL association is unknown. Clearly, the factors that lead to the widespread malformations must influence the very early stages of embryonic development. One or more VACTERL defects have occurred with greater frequency to women with diabetes than in the general population. Rarely, VACTERL association has been associated with gene alterations including duplications or deletions (copy number variation), and mitochondrial dysfunction (the mitochondria is a cellular structure responsible for energy production in the cell).", "affected": "Estimates place the birth prevalence of VACTERL association at about 1 per 10,000 to 40,000 live births. The true frequency may be difficult to determine because different diagnostic criteria are used in different studies. In addition, VACTERL association is likely to be underdiagnosed, especially in children with fewer problems. Some studies have shown that males might be slightly more commonly affected than females, but no association with a specific geographic region or ethnic group has been determined. VACTERL association is generally not a heritable disease, and the risk of recurrence in another child from the same parents is low.", "related-disorders": "The malformations that occur in VACTERL association can be seen in a number of other disorders. To avoid misdiagnosis, a complete evaluation is required to consider other possible causes of congenital malformations. Some of the disorders that can mimic VACTERL association are heritable and some occur sporadically. Examples of such conditions are described below.", "diagnosis": "VACTERL association is a diagnosis made when other possible causes of birth defects have been ruled out (diagnosis of exclusion). No clearly-established set or validated diagnostic criteria has been published to date, and no laboratory test exists that can diagnose or rule out VACTERL association. At the moment, the most stringent approach defines a secure designation of VACTERL association in presence of at least one anomaly in all three involved body parts (i.e. limbs, thorax and pelvis/lower abdomen), and probable in presence of two or more anomalies in two body parts. The diagnosis is a clinical diagnosis based on the defects present and therefore starts with a complete physical examination. Other tests performed will depend on the suspected birth defects. For example, X-ray imaging might be used to detect vertebral and limb anomalies and ultrasound imaging might identify cardiac or renal defects. Laboratory and genetic tests can be useful to rule out alternative diagnoses. Some malformations seen in VACTERL association might be identified before birth with imaging techniques such as prenatal ultrasound. Importantly, the presence of a single umbilical artery should prompt evaluation for VACTERL association and other birth defects.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3412", "name_zh": "VACTERL 伴脑积水", "Name": "VACTERL with hydrocephalus", "disease_name": "VACTERL with Hydrocephalus", "synonyms": "VACTERL association with hydrocephalus", "disease-overview": "VACTERL with hydrocephalus (VACTERL-H) is a rare disorder in which the non-random congenital malformations of VACTERL association co-occur with hydrocephalus. The term VACTERL is an acronym with each letter representing the first letter of the associated malformation:", "symptoms": "VACTERL with hydrocephalus (VACTERL-H) is a rare disorder that affects multiple anatomical systems. Affected children typically present with a variety of congenital anomalies at birth, however, in some children core features of the disorder are not noted until later in life. The combination of congenital anomalies and the related symptoms may vary considerably in different affected individuals.", "causes": "VACTERL-H is generally considered to be a sporadic disorder, not passed down through families, and a consequence of defective differentiation of specific tissue types during early fetal development. However, in a subset of patients there is evidence for a familial or inherited component with some patients reporting multiple affected family members. In patients with a family history of VACTERL-H, the disorder is thought to show autosomal recessive or X-linked inheritance.", "affected": "VACTERL with hydrocephalus is an extremely rare disorder that affects males and females in equal numbers. The exact prevalence of the disorder in the general population is unknown.", "related-disorders": "The congenital malformations described in VACTERL-H can occur as isolated defects or as a component of other complex disorders. To avoid misdiagnosis, a complete evaluation including detailed clinical examinations and laboratory studies are often required to rule out other more common associated disorders. Some of the conditions often considered in the differential diagnosis of VACTERL-H are discussed below.", "diagnosis": "The diagnosis of VACTERL-H is made clinically. Presence of at least three of the core features or the disorder, including presence of hydrocephalus, is usually typically considered sufficient for diagnosis. Other more common disorders should be ruled out with clinical and/or laboratory studies. Clinical diagnosis is based on the features seen and therefore starts with a complete physical examination. The diagnosis of VACTERL-H is usually made after birth, however, findings seen on prenatal imaging such as a single umbilical artery or radial aplasia may be suggestive of this diagnosis and prompt evaluation for other anomalies. Imaging studies, while not required are typically used to aid in diagnosis as milder anomalies may be difficult to diagnose on clinical examination alone.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:79473", "name_zh": "混合型卟啉病", "Name": "Variegate porphyria", "disease_name": "Variegate Porphyria", "synonyms": "porphyria variegata", "disease-overview": "", "symptoms": "The symptoms and severity of variegate porphyria can vary greatly from one person to another. Symptoms are rarely apparent before puberty. Affected individuals often develop skin (cutaneous) or neurological abnormalities or both. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physicians about their specific clinical situations, associated symptoms and overall prognosis.", "causes": "Variegate porphyria is caused by mutations of the PPOX gene.  A PPOX mutation is inherited as an autosomal dominant trait within a family. Dominant genetic disorders occur when only a single copy of an altered gene is necessary to cause a particular disease.  The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the altered gene from an affected parent to an offspring is 50% for each pregnancy.  The risk is the same for males and females.", "affected": "Some reports suggest that variegate porphyria affects more women than men. The incidence is estimated to occur in 1 in 100,000 individuals in the general population in European populations. The disorder occurs with the greatest frequency in South Africa in individuals of Dutch ancestry due to a founder effect. A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a genetic trait. Most individuals with variegate porphyria in South Africa carry the same PPOX mutation and are descendants of a Dutch settler from the late 1600s. The incidence of variegate porphyria in South Africa among Caucasians is estimated to be 1 to 3 in 1,000 individuals.", "related-disorders": "Acute attacks of variegate porphyria are identical to those that occur in three other porphyrias. Therefore, these are often classified as acute porphyrias based on these symptoms.", "diagnosis": "A diagnosis of variegate porphyria is suspected based upon symptoms and examination of the skin. None of the symptoms are specific, so the diagnosis must be confirmed by biochemical testing. In the evaluation of neurological symptoms, the other acute porphyrias need to be considered. For initial screening, a spot urine sample should be obtained for measurement of PBG, ALA and total porphyrins. If none of these is elevated, acute porphyrias can be excluded as a cause of recent or concurrent symptoms. PBG measurement is most important and specific for acute porphyrias. However PBG and ALA may be less elevated and return to normal more quickly after an attack of variegate porphyria (or hereditary coproporphyria) than in acute intermittent porphyria. Therefore, measurement of total urine porphyrins is important, keeping in mind that an elevation of urine porphyrins can occur in many other medical conditions.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99110", "name_zh": "右上腔静脉连接左心房", "Name": "Vascular Malformations of the Brain", "disease_name": "Vascular Malformations of the Brain", "synonyms": "Cerebral Malformations, Vascular", "disease-overview": "As the name suggests, vascular malformations of the brain is an umbrella term for at least six conditions in which blood vessels of the brain are affected. Such malformations are classified into several types in which the symptoms, severity, and causes vary. These types of VMB are: (1) arteriovenous malformations (AVM), abnormal arteries and veins; (2) cavernous malformations (CM), enlarged blood-filled spaces; (3) venous angiomas (VA), abnormal veins; (4) telangiectasias (TA), enlarged capillary-sized vessels; (5) vein of Galen malformations (VGM); and (6) mixed malformations (MM).", "symptoms": "Vascular malformations of the brain may cause headaches, seizures, strokes, or bleeding in the brain (cerebral hemorrhage).  Some researchers believe that the type of malformation determines the symptoms and progression of the disease.  Other researchers believe that only the severity rather than the type of malformation is important.", "causes": "Three types or forms of VMB have a genetic component.  The evidence for a genetic cause is strong in the case of cavernous hemangiomas and telangiectasias.  The case is much weaker for arteriovenous malformation of the brain (AVM).  In each of these cases, the condition is transmitted as an autosomal dominant trait.  The malfunctioning gene in the case of cavernous malformations has been tracked to gene map locus 7q11.2-q21, and in the case of telangiectasia to gene map locus 9q34.1.", "affected": "Vascular malformations of the brain affect males and females in equal numbers.  A hereditary form of cavernous malformations tends to occur more frequently in Mexican-Americans.  Arteriovenous malformations occur more frequently in males.", "related-disorders": "Symptoms of the following disorders can be similar to those of vascular malformations of the brain.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Moyamoya disease", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:52759", "name_zh": "血管炎", "Name": "Vasculitis", "disease_name": "Vasculitis", "synonyms": "Angiitis", "disease-overview": "Vasculitis is inflammation of blood vessels. In individuals with vasculitis, inflammation damages the lining of affected blood vessels, causing narrowing, the formation of blood clots (thrombosis), and/or blockage. As a result, there may be restriction of oxygenated blood supply to certain tissues (ischemia), potentially resulting in pain, tissue damage, and, in some cases, malfunction of certain affected organs. Vasculitis may affect veins and arteries of any type or size; may involve a single organ or many organs and tissues of the body; and may be a primary disease process or occur due to or in association with a number of different underlying disorders. Therefore, the range and severity of symptoms and findings associated with vasculitis may vary greatly. The specific underlying cause of vasculitis is not fully understood. However, in most cases, it is thought to be due to disturbances of the body’s immune system.", "symptoms": "Vasculitis is a general term that means inflammation of blood vessels. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues (ischemia). The lack of blood may result in damage to nearby tissues (necrosis), formation of blood clots (thrombosis), and, in rare cases, a weakening or ballooning that may rupture of the vessel wall (aneurysm).", "causes": "The specific underlying cause of vasculitis is not fully understood. However, in most cases, vasculitis is thought to be due to disturbances of the body’s immune system. Some forms of vasculitis may be due to allergic reactions or hypersensitivity to certain medications such as sulfur drugs, penicillin, propylthiouracil, other drugs, toxins, or other inhaled environmental irritants. Other forms may occur due to fungal, parasitic, or viral infections. In some instances, it is thought that vasculitis may be an autoimmune disorder. Autoimmune disorders are caused when the body’s natural defenses against foreign or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons.", "affected": "Vasculitis usually affects males and females in equal numbers. It is most commonly seen in the elderly.", "related-disorders": "The following are diseases that are associated with vasculitis:", "diagnosis": "Because of the wide range of symptoms and body systems involved, an extensive history and physical exam is needed before a clear diagnosis of the type of vasculitis can be made. In some cases, an x-ray of the blood vessels using dye (angiogram), or a biopsy of the affected organ may be recommended to give an accurate diagnosis and to insure proper treatment.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:1480", "name_zh": "欧洲非罕见：室间隔缺损", "Name": "Ventricular Septal Defects", "disease_name": "Ventricular Septal Defects", "synonyms": "Congenital Ventricular Defects", "disease-overview": "Ventricular septal defects are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood from the left ventricle and away from the heart.", "symptoms": "Infants with small ventricular septal defects may have no symptoms unless they experience infection that spreads to the lining of the heart and the valves (infective endocarditis).  This form of the disease is known as Roger’s disease.", "causes": "The exact cause of VSDs is not known. These defects probably occur as the result of errors in the development of an embryo. During the early part of fetal development there is no wall (septum) to separate the left and right ventricles. As the fetus grows, so does a muscular wall that splits the lower chamber into two ventricles.  If the muscle does not form a solid wall, a hole remains and is what is called the ventricular septal defect. The why and how of these developmental errors is not fully understood. However, research suggests that they may occur as the result of the complex interaction of many factors, both genetic and environmental (multifactorial).", "affected": "Ventricular septal defects are rare congenital malformations of the heart that occur more frequently in males than females.  Approximately 1 percent of newborns have a congenital heart defect.  About 25 to 30 percent of these infants are diagnosed with ventricular septal defects.  Of the babies born with VSDs, 80 to 90 percent present with a small hole and mild symptoms.", "related-disorders": "Symptoms of the following disorders may be similar to those of ventricular septal defects.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Atrial septal defects are common congenital heart defects characterized by the presence of a small opening between the two atria of the heart.  These defects lead to an increase in the workload on the right side of the heart as well as excessive blood flow to the lungs.  The symptoms, which may become apparent during infancy, childhood, or adulthood, depend on the severity of the defect and can vary greatly.  The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and/or abnormal bluish discoloration of the skin and mucous membranes (cyanosis).  Some people with atrial septal defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism) and block blood circulation.  (For more information on this disorder, choose atrial septal defect as your search term in the Rare Disease Database.)", "therapies": "The diagnosis of ventricular septal defects is confirmed by a thorough clinical evaluation and specialized tests that allow physicians to evaluate the structure and function of the heart as well as the exact nature of the defect. X-ray studies and electrocardiogram (EKG) results may help to confirm the diagnosis. In one procedure, ultrasonic waves are directed toward the heart (Doppler echocardiogram), enabling physicians to study the motion and function of the heart and the surrounding vessels. During cardiac catheterization, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels that lead to the heart. This procedure allows physicians to determine the rate of blood flow through the heart, measure pressure within the heart, and thoroughly identify anatomical abnormalities."}
{"OrphaCode": "ORPHA:70476", "name_zh": "春季角结膜炎", "Name": "Vernal keratoconjunctivitis", "disease_name": "Vernal Keratonconjunctivitis", "synonyms": "spring ophthalmia", "disease-overview": "Vernal keratoconjunctivitis (VKC) is a chronic, non-contagious allergic disorder with seasonal recurrences usually appearing during the spring or warm weather. VKC is caused by a hypersensitivity to airborne-allergens. It usually affects younger members of the population, ages 3-25 and most patients are males. Major symptoms include itching, sensitivity to light (photophobia) and redness. Signs consist of inflammation of the mucous membrane lining the inside of the eyelid (conjunctiva) and the outer coat of the eyeball (sclera); hard, cobblestone-like bumps (papillae) on the upper eyelid; and stringy or mucous discharge.", "symptoms": "VKC symptoms include inflammation of the outer membrane of the eye. This causes the eyes to become red and may cause blurred vision. The eyes become sensitive to light and itch intensely. Usually both eyes are affected, and cobblestone-like changes appear in the upper eyelid linings (palpebral conjunctiva). In other patients, a gelatinous nodule may develop in the tissue adjacent to the cornea (limbus). In very severe cases, the corneas may scar (shield ulcers) or clouding of the lens (cataract) may occur, leading to temporarily or permanently reduced vision.", "causes": "The cause of VKC is a hypersensitivity or allergic reaction of the eyes to airborne allergens. The pathogenesis of ocular allergies is related to a complex exchange of information between tissues through cell-to-cell communications, chemical mediators, cytokines, and adhesion molecules. It is also possible that the neural and endocrine systems may influence ocular allergic responses.", "affected": "Onset of VKC typically occurs at about 11 years of age, but onset can be between 3 and 25 years of age. The disorder appears to affect more males than females. Usually patients with VKC have a family history of atopic diseases, such as asthma, eczema, or rhinitis. It occurs most often during the spring or summer but up to 60% of patients experience recurrences in the winter periodically. It is more present in climates that are dry and warm.", "related-disorders": "Symptoms of the following disorder can be similar to those of vernal keratoconjunctivitis. Comparisons may be useful for a differential diagnosis.", "diagnosis": "The diagnosis of VKC is usually straightforward and can almost always be diagnosed based on signs and symptoms. However, atypical presentations or patients that experience incomplete forms of VKC may have a more difficult time obtaining a diagnosis. Having asthma or dermatitis also helps support the diagnosis of VKC.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:26793", "name_zh": "极长链酰基辅酶A脱氢酶缺乏症", "Name": "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)", "disease_name": "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)", "synonyms": "ACADL", "disease-overview": "Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare genetic disorder of fatty acid metabolism that is inherited in an autosomal recessive pattern. It occurs when an enzyme needed to break down long-chain fatty acids is missing or not working properly. VLCADD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCADD) was applied to one such disease, but today it is clear that all cases once thought to be LCADD are actually VLCADD.", "symptoms": "Children with early-onset VLCADD present with symptoms within days or weeks after birth. These infants show signs of low blood sugar (hypoglycemia) including irritability and listlessness (lethargy). Blood ammonia levels can be high. Infants also are at risk for weakness of the heart muscles (cardiomyopathy), abnormal heart rhythms, and cardiorespiratory failure. Similar symptoms can occur any time in the first few months to years of life. Cardiomyopathy is uncommon in infancy but can be life threatening when present. The incidence of hypoglycemia decreases with age and is uncommon after about age six. Thereafter, muscle symptoms predominate including periodic attacks of pain, fatigue and/or muscle breakdown (rhabdomyolysis) with activity or otherwise mild illnesses. Some patients can have their first symptoms in early adolescence. Cardiomyopathy and cardiac arrhythmias can occur at any age.", "causes": "VLCADD is a genetic disorder of fatty acid metabolism. Metabolic disorders result from abnormal structure and functioning of a specific protein known as an enzyme. Enzymes are proteins that speed up the chemical reactions of the body. Enzymes are complicated proteins that must be folded in very precise ways to do their job of speeding up specific chemical reactions so that metabolism may proceed.", "affected": "VLCADD was originally described in 1992 and is now recognized as having an incidence of 1:40,000 babies. The introduction of heel-stick tandem mass spectrometry for the early diagnosis of VLCAD in newborns has markedly increased the number of infants diagnosed with VLCADD.", "related-disorders": "Symptoms of the following disorders can be similar to those of VLCADD:", "diagnosis": "VLCADD is diagnosed based upon a thorough clinical evaluation, identification of characteristic findings (e.g., hypoketotic hypoglycemia, severe skeletal muscle weakness, heart enlargement), and the results of various specialized tests, including analysis conducted on various specimens, such as urine, blood, muscle, liver tissue, skin cells (cultured fibroblasts) and/or white blood cells (leukocytes). A thorough and complete family history is especially important to determine if there is an episode of sudden infant death (SID) in the family’s past. One estimate is that prior to the advent of newborn screening VLCAD deficiency was responsible for up to 5% of all SIDS deaths. VLCADD is included on the recommended uniform screening panel in the United States. DNA testing by gene sequencing is now the most common confirmatory test in a child suspected to have VLCADD.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:420556", "name_zh": "视雪综合征", "Name": "Visual Snow Syndrome", "disease_name": "Visual Snow Syndrome", "synonyms": "visual static", "disease-overview": "", "symptoms": "The main clinical feature of the syndrome described consistently by patients is an unremitting, positive visual phenomena, present in the entire visual field and characterized by uncountable tiny flickering dots interposed between the person’s vision and the background. This ‘static’ is typically black and white but can also be colored, flashing or transparent.", "causes": "The causes of visual snow syndrome are currently unknown. Some key features of the syndrome however, point to a neurological disorder of visual processing in the brain cortex. This is mostly due to the characteristic of the chief symptom of the syndrome (i.e. the visual static) which is a whole-field visual disturbance; this makes a localization of the problem in the visual pathway or primary visual cortex extremely unlikely. Furthermore, additional symptoms such as palinopsia, which can be considered an inability to suppress the just-seen, and the enhanced entoptic phenomena in the context of normal ophthalmological tests, also point in the same direction of a central neurological disorder of the visual pathway, from causes yet to be determined.", "affected": "It is currently unknown how many patients suffer from visual snow worldwide. The available data tells us that there is possibly a higher prevalence of the disease in the male population and that the average age of affected subjects is relatively young (13).", "related-disorders": "A disorder which has been strongly related to visual snow is tinnitus. Tinnitus is a common condition often referred to as a ringing in the ears and characterized by the perception or sensation of sound even though there is no identifiable external source for the sound. Tinnitus is extremely frequent in patients with visual snow, with up to three quarters of subjects reporting the symptom (14). This has led some researchers to hypothesize a possible relationship between the two conditions, which both possibly represent a similar dysfunction in sensory processing, respectively of the visual and auditory system in the brain. (For more information on this disorder, choose Tinnitus as your search term in the Rare Disease Database.)", "diagnosis": "Visual Snow is a clinical diagnosis that comes from the fulfillment of a set of criteria and the exclusion of secondary causes of similar visual disturbances, such as underlying ophthalmological and neurological diseases.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:289157", "name_zh": "低钙维生素D依赖型佝偻病", "Name": "Vitamin D Deficiency Rickets", "disease_name": "Vitamin D Deficiency Rickets", "synonyms": "nutritional rickets", "disease-overview": "Vitamin-D deficiency rickets, a disorder that becomes apparent during infancy or childhood, is the result of insufficient amounts of vitamin D in the body. The deficiency of vitamin D may be caused by poor nutrition, a lack of exposure to the sun, or malabsorption syndromes in which the intestines do not adequately absorb nutrients from food. Vitamin D is needed for the metabolism of calcium and phosphorus in the body. Vitamin D affects how calcium is deposited in the bones; thus it is considered essential for proper bone development and growth. Major symptoms of vitamin D deficiency rickets include bone deformities and bone pain, slow growth, fractures and seizures. It can be efficiently treated with vitamin D supplementation and with additional calcium supplementation in some cases. This disorder is rare in developed countries but is not uncommon in certain areas of the world with predisposing factors such as poor sun-exposure, high altitude, and breastfeeding.", "symptoms": "Rickets typically manifests in infants and toddlers, but can also happen in older children. Symptoms of vitamin D deficiency rickets include restlessness, lack of sleep, slow growth, a delay in crawling, sitting or walking, soft skull bones (craniotabes), swelling of the skull (frontal bossing), bead-like nodules where the ribs and their cartilages join (rachitic rosary), and a delay in the closing of the skull bones. Aches, pains and enlarged bones are possible, along with swelling at the joints such as wrists and ankles.", "causes": "Vitamin D deficiency rickets can be caused by a lack of vitamin D in the diet, a lack of exposure to the sun, or malabsorption syndromes such as celiac disease, in which there is an inability of the intestines to adequately absorb nutrients from foods. Nursing mothers may have low levels of vitamin D and feed their baby with milk that is deficient in vitamin D.", "affected": "Vitamin D deficiency rickets affects males and females equally. Even though it can affect older children, rickets mostly affects infants and preschool children and can be present at birth (congenital) in babies born to a woman with low levels of vitamin D.", "related-disorders": "Symptoms and clinical features of the following disorders can be similar to those of vitamin D deficiency rickets. This includes other types of rickets and other diseases that can affect bone health. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Pseudovitamin D deficiency rickets (vitamin D dependent rickets, type I) is characterized by skeletal changes and weakness similar to severe vitamin D deficiency.  This disorder is caused by abnormal vitamin D metabolism and is inherited in an autosomal recessive pattern. This type of rickets often begins earlier than hypophosphatemic rickets (see below for more details). Blood levels of calcium are severely diminished in patients with vitamin D dependent rickets. Amino acids become lost in the urine due to abnormal kidney function. Intermittent muscle cramps may occur. Convulsions and abnormalities of the spine and pelvis may also develop.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3437", "name_zh": "Vogt-小柳-原田综合征", "Name": "Vogt-Koyanagi-Harada disease", "disease_name": "Vogt-Koyanagi-Harada Disease", "synonyms": "alopecia-poliosis-uveitis-vitiligo-deafness-cutaneous-uveo-oto syndrome", "disease-overview": "Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of pigmentation) of the hair and eyelashes (poliosis).", "symptoms": "Vogt-Koyanagi-Harada disease is initially characterized by headaches, very deep pain in the eyes, dizziness (vertigo), and nausea. These symptoms are usually followed in a few weeks by eye inflammation (uveitis) and blurring of vision. This may occur in both eyes at the same time or in one eye first and, a few days later, in the other. The retina may detach and hearing loss may become apparent.", "causes": "The exact cause of Vogt-Koyanagi-Harada disease is unknown. It is thought by researchers to be an immune response to the human leukocyte antigen (HLA). These are genetic markers located on chromosome 6 that react specifically with a particular antibody. This genetic defect may predispose persons who carry this antigen to develop Vogt-Koyanagi-Harada disease.", "affected": "Vogt-Koyanagi-Harada disease is a rare disease that affects males and females in equal numbers. The disorder is more prevalent in Asian, Hispanic and Native American populations than in people who trace their ancestry to northern Europe. Onset typically occurs at around 30 or 40 years of age, but cases have been reported among children as young as four years old.", "related-disorders": "Symptoms of the following disorders can be similar to those of Vogt-Koyanagi-Harada disease or may occur in conjunction with Vogt-Koyanagi-Harada disease.", "diagnosis": "The diagnostic criteria for VKH disease includes inflammation of both eyes, no evidence of another ocular disease causing the inflammation, and no history of trauma or ocular surgery. An international group of experts has established three categories of disease:", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:892", "name_zh": "Von Hippel-Lindau病", "Name": "Von Hippel-Lindau disease", "disease_name": "Von Hippel-Lindau Disease", "synonyms": "VHL", "disease-overview": "VHL or von Hippel-Lindau disease is a rare genetic disorder associated with an increased risk of developing certain tumors. VHL disease is caused by a deletion or disease-causing variant (mutation) in the VHL gene. People who have VHL disease may experience tumors and/or cysts in up to ten parts of the body, including the brain, spine, eyes, kidneys, pancreas, adrenal glands, inner ears, reproductive tract, liver and lung. The mean age of onset is 26 years and 97% of people with a VHL gene variant have symptoms by the age of 65.", "symptoms": "VHL disease does not have a single primary symptom. This is in part because it does not occur exclusively in one organ of the body. It also does not always occur in a particular age group. The condition is hereditary, but the presentation of the disease can be very different between individuals, even if they have the same VHL gene variant. The appearance and severity of VHL lesions are so different between people that some members of the same family may have only relatively harmless issues, while others have a serious illness.", "causes": "VHL is caused by a deletion or disease-causing variant (mutation) in the VHL gene. The function of the VHL gene is to act as a tumor suppressor and prevent the formation of tumors. The VHL gene is responsible for the production of the VHL protein. This protein is the key regulator of cellular hypoxia signaling through the HIF (hypoxia-inducible factor) complex and is indirectly responsible for enhanced levels of growth factors including vascular endothelial factor, platelet derived growth factor and transforming growth factor alpha.", "affected": "VHL disease affects 1 in 36,000 people (10,000 cases in the U.S and 200,000 cases worldwide). VHL disease affects males and females and all ethnic groups equally and occurs in all parts of the world.", "related-disorders": "VHL causes tumors to grow in 10 different parts of the body: kidneys, adrenals, pancreas, brain, spine, retina, inner ears, reproductive tract, liver and lungs. Because of the multi-organ involvement, the symptoms of VHL disease overlap with a wide range of diseases. These include the following:", "diagnosis": "VHL disease is diagnosed with molecular genetic testing for disease-causing variants in the VHL gene. A clinical diagnosis can be made when a person exhibits a tumor specific to VHL.", "therapies": "Universal treatment recommendations for VHL disease do not exist. Treatment options are determined by careful evaluation of the patient’s symptoms, test results, imaging studies and general physical condition. General guidelines for possible treatments are as follows:"}
{"OrphaCode": "ORPHA:902", "name_zh": "Werner综合征", "Name": "Werner syndrome", "disease_name": "Waardenburg Syndrome", "synonyms": "WS", "disease-overview": "Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness. More specifically, some affected individuals may have an unusually wide nasal bridge due to sideways (lateral) displacement of the inner angles (canthi) of the eyes (dystopia canthorum). In addition, pigmentary abnormalities may include a white lock of hair growing above the forehead (white forelock); premature graying or whitening of the hair; differences in the coloration of the two irides or in different regions of the same iris (heterochromia irides); and/or patchy, abnormally light (depigmented) regions of skin (leukoderma). Some affected individuals may also have hearing impairment due to abnormalities of the inner ear (sensorineural deafness).", "symptoms": "Primary features of Waardenburg syndrome (WS) may include distinctive facial abnormalities; unusually diminished pigmentation (hypopigmentation) of the hair, the skin, and/or the irides or the iris of both eyes (partial albinism); and/or deafness that is present at birth (congenital). However, as mentioned earlier, associated symptoms and findings may be extremely variable, including among affected members of the same family (kindred). For example, while some affected individuals may have only one characteristic feature, others may have several abnormalities associated with the disorder.", "causes": "In most cases, Waardenburg syndrome type I (WS1) and type II (WS2) are inherited as autosomal dominant traits with variable penetrance and expressivity. Some cases of Waardenburg syndrome type III (WS3) and type IV (WS4) appear to have an autosomal recessive pattern of inheritance. Mutations in the EDN3, EDNRB, MITF, PAX3 and SOX10 genes cause Waardenburg syndrome.", "affected": "Waardenburg syndrome (WS) is named after the investigator (PJ Waardenburg) who first precisely described the disorder in 1951. At least 1,400 cases have since been recorded in the medical literature. Evidence suggests that WS may have a frequency of approximately one in 40,000 births and account for about two to five percent of cases of congenital deafness. The disorder appears to affect males and females relatively equally.", "related-disorders": "Symptoms of the following disorders may be similar to those of Waardenburg syndrome (WS). Comparisons may be useful for a differential diagnosis:", "diagnosis": "There are a number of disorders that may be characterized by certain features similar to those seen in WS. For example, according to researchers, such disorders may include familial cases of partial albinism and deafness; familial cases of vitiligo and congenital sensorineural deafness; or a condition known as Vogt-Koyanagi-Harada syndrome. The latter may be characterized by inflammatory conditions of the eyes; vitiligo; whitening of the eyebrows, eyelashes, and scalp hair (poliosis); hair loss (alopecia); a condition in which certain sounds may cause discomfort (dysacusis); and/or other symptoms and findings. In addition, some congenital disorders may also be associated with sideways displacement of the inner angles of the eyes (dystopia canthorum); widely spaced eyes (ocular hypertelorism); narrow nostrils; unusually bushy eyebrows that may grow together (synophrys); hearing impairment; upper limb malformations; digestive abnormalities; and/or other features potentially associated with WS. However, such disorders are often characterized by additional, distinctive symptoms, physical findings, or other features that may help to distinguish them from WS. (For more information on these disorders, choose the exact disease name in question as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2308", "name_zh": "Jacobsen综合征", "Name": "Jacobsen syndrome", "disease_name": "WAGR Syndrome11p Deletion Syndrome", "synonyms": "chromosome 11p deletion syndrome", "disease-overview": "WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for the characteristic abnormalities associated with the syndrome. The acronym stands for (W)ilms’ Tumor, the most common form of kidney cancer in children; (A)niridia, partial or complete absence of the colored region of the eye(s) (iris or irides); (G) Genitourinary abnormalities, such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females; and Mental (R)etardation (intellectual disability). A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome/11p deletion syndrome. The clinical picture varies, depending upon the combination of associated abnormalities.", "symptoms": "WAGR syndrome/11p deletion syndrome is defined as a genetic syndrome in which there is a predisposition to Wilms’ tumor; aniridia; abnormalities of the reproductive and urinary tracts (genitourinary); and  intellectual disability. The specific symptoms that occur depend upon the combination of disorders present.", "causes": "WAGR syndrome/11p deletion syndrome is known as a contiguous gene syndrome, meaning that it is caused by defects (mutations) of adjacent genes on a particular chromosome. In many affected individuals, the syndrome is thought to result from deletion of one copy of chromosome 11 at band p13 (monosomy). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q.  Chromosomes are further subdivided into bands that are numbered.", "affected": "WAGR syndrome/11p deletion syndrome is a rare genetic disorder that is thought to affect males more frequently than females. Because some affected individuals have external genitalia that strongly resembles that of the opposite sex, incorrect sex identification may occur initially", "related-disorders": "Symptoms of the following disorders can be similar to those of WAGR syndrome/11p deletion syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Drash syndrome is a very rare disorder that usually appears early in life. It is characterized by the combination of abnormal kidney function (nephropathy); Wilms’ Tumor; and the presence of the gonads of one sex and external genitalia resembling that of the other, making the individual’s sexual assignment (i.e., male or female) uncertain (pseudohermaphroditism). Some individuals may have the incomplete form of Drash syndrome, which consists of abnormal kidney function with either genital abnormalities (pseudohermaphroditism) or Wilms’ tumor. Drash syndrome is caused by a point mutation (a type of mutation which causes the replacement of a single base nucleotide with another nucleotide) in the WT1 gene. Drash syndrome typically occurs for no apparent reason (sporadically). However, in rare cases, it may be inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose Drash as your search term in the Rare Disease Database.)", "therapies": "WAGR syndrome/11p deletion syndrome can be diagnosed at birth, based upon a clinical evaluation, characteristic physical findings, and chromosomal studies (high-resolution karyotyping and molecular cytogenetic tests). In many cases, the partial or complete absence of the iris of the eye (aniridia) may be the only physical feature associated with WAGR Syndrome/11p deletion syndrome that is obvious at birth. In other cases, genitourinary abnormalities associated with the syndrome may also be apparent."}
{"OrphaCode": "ORPHA:33226", "name_zh": "华氏巨球蛋白血症", "Name": "Waldenström Macroglobulinemia", "disease_name": "Waldenström Macroglobulinemia", "synonyms": "macroglobulinemia", "disease-overview": "Waldenström macroglobulinemia (WMG) is a malignant disorder of the bone marrow and lymphatic tissues, a type of lymphoma and characterized by the presence of abnormally large numbers of a particular kind of white blood cell known as B lymphocytes. As these cells accumulate in the body, excessive quantities of an antibody protein known as IgM are produced. Large amounts of IgM cause the blood to become thick (hyperviscosity) and affects the flow of blood through the smaller blood vessels, leading to some of the symptoms of the disorder. Small blood vessels may tear leading to bleeding in the nose, gums, or retina.", "symptoms": "Symptoms of Waldenström macroglobulinemia usually begin gradually. Common symptoms are fatigue and loss of energy due to anemia. Bleeding from the nose and gums may also occur, and tingling in the fingers and toes is often seen (peripheral neuropathy). Examination may also reveal enlarged liver, spleen or lymph nodes. Blurring or vision impairment may also occur due to changes in blood flow through the blood vessels that serve the retina. The symptoms are quite variable depending on the effect of the thickened (viscous) blood on the organ involved.", "causes": "The cause of Waldenström macroglobulinemia is unknown. There is evidence of occurrence within families, but such occurrence is uncommon.", "affected": "Waldenström macroglobulinemia is a very rare disorder affecting about 1 in 3.4 million American men and about half that number of American women. The incidence of WMG is estimated to be about 5 per 1,000,000 people over the age of 50. The median age at diagnosis is 67. However, patients have been diagnosed in their twenties. This disorder is considerably less common among people of African descent.", "related-disorders": "The disease is classified as a lymphoma and also has characteristics in common with chronic lymphocytic leukemia and multiple myeloma.", "diagnosis": "When patients show symptoms of an enlarged spleen and liver combined with bleeding of the retina, WMG is reasonably suspected. The results of a complete blood count (CBC) usually show low red blood cell counts as well as low platelet counts. In such circumstances, electrophoresis (analysis of the blood proteins) of serum samples will show a peak reading for IgM. The most common finding preceding the diagnosis is unexplained anemia.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:899", "name_zh": "沃克-沃伯格综合征", "Name": "Walker-Warburg syndrome", "disease_name": "Walker Warburg Syndrome", "synonyms": "muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A (MDDGA)", "disease-overview": "", "symptoms": "The main symptoms of WWS are muscular dystrophy (progressive degeneration and weakness of the voluntary muscles) and abnormalities of the brain and eyes. Symptoms of WWS are congenital (present at birth), and some of the brain abnormalities can be detected by prenatal ultrasound and/or fetal MRI in the later stages of pregnancy.", "causes": "WWS is due to abnormally functioning or non-working genes that are important in muscle, brain and eye development. It is inherited in an autosomal recessive manner and occurs in an individual who inherits two abnormal copies of a gene, one from each parent. An individual that has one normally functioning copy of the gene and one non-working copy of the gene is a carrier for WWS but usually does not have any symptoms. The risk for two carrier parents who have children together to both pass on the abnormal or non-working gene and therefore have an affected child is 25%, or 1 in 4, with each pregnancy. The risk for these parents to have a child who is a carrier only (unaffected) is 50%, or 1 in 2, with each pregnancy. Their chance to have a child with two normally functioning copies of the gene (unaffected and not a carrier) is 25%, 1 in 4, with each pregnancy. These risks are the same for male and female offspring.", "affected": "WWS has been reported worldwide and affects males and females in equal numbers. The incidence is unknown but is estimated to be about 1 in 100,000.", "related-disorders": "Symptoms of several disorders can show overlap with WWS. As noted earlier, congenital muscular dystrophy (CMD) is a general term for a group of muscle diseases that includes several different conditions. The severity, specific symptoms and progression of these disorders vary greatly. CMDs related to WWS can present with milder brain abnormalities, such as cerebellar cysts or intellectual disability without brain malformations. Two specific forms of CMD, Fukuyama CMD and muscle-eye-brain disease (MEB), have symptoms similar to WWS, but are generally less severe. Some forms of CMD may not involve any malformations of the central nervous system. Almost all known forms of CMD are inherited as autosomal recessive conditions. (For more information on these disorders, choose congenital muscular dystrophy as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of WWS is based upon the identification of characteristic features, a thorough clinical evaluation and a variety of specialized tests. A diagnosis can be confirmed through molecular genetic testing.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2510", "name_zh": "Micro综合征", "Name": "Micro syndrome", "disease_name": "Warburg Micro Syndrome", "synonyms": "micro syndrome", "disease-overview": "", "symptoms": "With over 100 published families, researchers have been able to establish a clear syndrome with characteristic or core symptoms, characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, intellectual disability and hypogonadism. It is important to note that affected individuals may not have all of the symptoms discussed below. Every child is unique. Parents should talk to their child’s physicians and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "Warburg micro syndrome is caused by changes (variants) in one of at least four different genes. The four genes known to be associated with this disorder are RAB3GAP1 (75% of cases), RAB3GAP2, RAB18 and TBC1D20. In some people, no variants in any of these genes have been found. This suggests that additional genes may cause this disorder.", "affected": "Warburg micro syndrome is an extremely rare disorder. As with many rare disorders, the exact incidence or prevalence of this disorder is unknown. The disorder probably goes misdiagnosed or undiagnosed making it difficult to determine the true frequency in the general population. About 100 families have been reported with this disorder in the medical literature, and a founder splicing mutation in RAB3GAP1 (c.748+1G>A) has been reported in 6 families of Turkish origin.", "related-disorders": "Symptoms of the following disorders can be similar to those of Warburg micro syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Warburg micro syndrome is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. Key findings of this disorder (microcephaly, cataracts, and microcornea) can also occur because of congenital viral infections and chromosomal abnormalities. Initial tests should be done to rule out congenital viral infections and chromosomal abnormalities.", "therapies": "The treatment of Warburg micro syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric neurologists, eye specialists (ophthalmologists), clinical geneticists, speech pathologists, physical therapists, psychologists and other healthcare professionals may need to plan an affected child’s treatment systematically and comprehensively."}
{"OrphaCode": "ORPHA:90033", "name_zh": "温抗体型自身免疫性溶血性贫血", "Name": "Autoimmune hemolytic anemia, warm type", "disease_name": "Warm Autoimmune Hemolytic Anemia", "synonyms": "Warm AIHA", "disease-overview": "Warm autoimmune hemolytic anemia (wAIHA) is an autoimmune disorder characterized by the premature destruction of healthy red blood cells (hemolysis). Autoimmune diseases occur when one’s own immune system attacks healthy tissue. In the case of wAIHA and other types of autoimmune hemolytic anemia, red blood cells are tagged by antibodies and are then destroyed by other types of immune cells. wAIHA is the most common type of autoimmune hemolytic anemia; it affects approximately 1 to 3 per 100,000 people every year and can occur at any age. The disease is termed warm because the antibodies are active and cause hemolysis at body temperature, which is not necessarily the case in other types of autoimmune hemolytic anemia. Normally, the red blood cells have a life span of approximately 120 days before they are destroyed by the spleen. In individuals with wAIHA, the red blood cells are destroyed prematurely and the rate of production of new cells in the bone marrow can no longer compensate for their loss. A decreased number of red blood cells (anemia) may cause fatigue, weakness, a pale skin color (pallor), dizziness, palpitations, and shortness of breath (dyspnea). Hemolysis leads to an increased release from the red blood cells of hemoglobin, a protein responsible for carrying oxygen in the blood. Degradation of hemoglobin into bilirubin can result in yellowing of the skin and whites of the eyes (jaundice). Hemoglobin can also pass in the urine and give it a dark brown color. The treatment of wAIHA is supportive and can also include corticosteroids and/or rituximab. Individuals that do not respond to usual treatment of have more severe disease might require drugs that suppress the immune system (immunosuppressive agents), blood transfusions, or surgical removal of the spleen (splenectomy).", "symptoms": "wAIHA can develop at any age, but the median age of onset is 52 years. This means that one half of affected individuals will be younger than 52 years of age when the disease begins and that the other half will be above this age. The symptoms of wAIHA usually develop slowly over a period of several weeks to months, but in some people can develop suddenly over a few days. Specific symptoms that occur may vary from one person to another and depend on the rate of onset, the degree of hemolysis, and the presence of an underlying disorder. Some individuals, especially those with a gradual onset of anemia, may not have any obvious symptoms (asymptomatic). Symptoms of anemia include paleness of the skin (pallor), fatigue, shortness of breath (dyspnea), dizziness and palpitations. In cases of brisk and severe hemolysis, chest pain, decreased alertness (lethargy), confusion, transient loss of consciousness (syncope), and deregulation of heart rate and blood pressure (hemodynamic instability) might occur. Hemolysis also leads to increased release of hemoglobin (an oxygen-carrying protein) in the blood and urine, which can result in darkly pigmented urine. Hemoglobin is degraded into a yellow compound called bilirubin, which can accumulate and lead to yellowing of the skin and whites of the eyes (jaundice). An enlarged spleen (splenomegaly) can also be seen. Splenomegaly may cause an affected individual to have a bloated or full feeling in the abdomen. wAIHA is also associated with an increased risk of blood clots in the veins (venous thromboembolism). These clots can notably develop in the legs (deep vein thrombosis) and have the potential to detach, circulate in the blood, and occlude the veins of the lungs (pulmonary embolism). Thromboembolisms typically occur in the weeks after diagnosis and are more common in patients with more severe hemolysis and in those that are treated with surgical removal of the spleen (splenectomy). Rarely, clots can form in the arteries feeding the heart (coronary arteries) and lead to a heart attack (myocardial infarction) or in the arteries of the brain (cerebral arteries) and lead to a stroke. Patients that require a splenectomy are also at a higher rate of developing infections. After being treated, 30% of patients will be cured, and the rest are at risk of developing recurrent episodes of hemolysis. The majority of people with wAIHA survive, although a mortality rate of about 5% is seen. Mortality is mainly attributed to thromboembolisms and infections, and the risk depends on many factors, notably the cause of wAIHA and the overall health of the affected individual.", "causes": "wAIHA occurs when antibodies produced by the immune system bind to red blood cells and identify them as targets to be attacked. Most of the tagged red blood cells are transported to the spleen, where they are destroyed by different types of immune cells. Antibodies are specialized proteins that usually bind to invading organisms and lead to their destruction. There are five main classes of antibodies: IgA, IgD, IgE, IgG, and IgM. Most cases of wAIHA are due to IgG antibodies. Less often, IgM or IgA antibodies cause the disorder. When antibodies attack healthy tissue, they may be referred to as autoantibodies. In the case of wAIHA, these autoantibodies are active and can trigger hemolysis when they are at body temperature.", "affected": "wAIHA affects 1 to 3 people per 100,000 each year in the general population. A total of about 1 in 8,000 individuals live with this condition. People of any age, including children, may develop wAIHA, but it is more common among adults, with a peak incidence between 50-70 years. The median age at onset is 52 years. It is possibly slightly more common in women compared to men. Secondary wAIHA is more common in people with predisposing conditions, such as those with lymphomas and leukemias or those with a disease affecting the immune system.", "related-disorders": "Symptoms of the following disorders can be similar to those of wAIHA. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of hemolytic anemia may be suspected based on a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms and a variety of tests such as blood tests that measure values of hemoglobin and the percentage of the total blood volume occupied by red blood cells (hematocrit). Blood tests may also show an elevated value of immature red blood cells (reticulocytes), which occurs when the body is forced to produce extra red blood cells to make up for those that are destroyed prematurely. Some individuals with hemolytic anemia have elevated values of bilirubin in the blood (hyperbilirubinemia). Hemolytic anemia also leads to increased values of lactate dehydrogenase (LDH) in the blood, as it is released from destroyed red blood cells. Haptoglobin is a hemoglobin scavenger that gets consumed when increased values of hemoglobin are released in the blood due to hemolysis. Haptoglobin values are therefore low in hemolytic anemia. When hemolytic anemia is suspected to be autoimmune in origin, specialized tests such as a Coombs test may be performed. This test is used to detect antibodies that act against red blood cells. A sample of blood is taken and then exposed to the Coombs reagent. A positive test is indicated when the red blood cells clump in the presence of the reagent. The autoantibodies seen in wAIHA are notable for being of the IgG subtype in most cases and being active at body temperature. Depending on the case, further testing might be performed to attempt to identify a cause of secondary wAIHA. In summary, the following sequence allows the diagnosis of wAIHA: 1) detection of anemia with increased reticulocyte counts, 2) determination that the anemia is caused by hemolysis, based on elevated bilirubin and LDH and low haptoglobin, 3) determination that wAIHA is the cause of hemolytic anemia with a Coombs test and 4) possible investigation for a secondary cause of wAIHA.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:906", "name_zh": "Wiskott-Aldrich综合征", "Name": "Wiskott-Aldrich syndrome", "disease_name": "WAS Related Disorders", "synonyms": "WAS", "disease-overview": "The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The WAS gene abnormality results in a deficiency in the WASP protein that leads to a low platelet count (thrombocytopenia).  WAS-related disorders usually present in infancy and are characterized by bloody diarrhea, recurrent infections, scaling, itchy, skin rashes (eczema), and the appearance of small purple spots on the skin (petechia). The development of Pneumocystis carinii pneumonia (PCP) and intracranial bleeding are possible early, life-threatening complications. Later potential complications include destruction of red blood cells (hemolytic anemia), arthritis, vasculitis and kidney and liver damage.  Affected individuals have an increased risk of developing lymphomas, especially after exposure to Epstein-Barr virus. WAS-related disorders are extremely variable, even in individuals in the same family.", "symptoms": "The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene.  These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia.", "causes": "WAS-related disorders are X-linked recessive genetic diseases that occur almost exclusively in males.  X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome.  WAS-related disorders are caused by a mutation in the WAS gene on the X chromosome that leads to a deficiency of the WASP protein.  The WASP protein is important in the structure and function of most blood cells.", "affected": "The estimated prevalence of WAS-related disorders is 3/1,000,000 males.  This condition has been described in many ethnic groups and in many countries.", "related-disorders": "Symptoms of the following disorders may be similar to those of WAS-related disorders.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Human immunodeficiency (HIV) infection should always be ruled out in any individual presenting with PCP or severe immune dysfunction.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:513456", "name_zh": "智力障碍-癫痫-步态异常-面容畸形综合症", "Name": "WDR26-Related Disorder", "disease_name": "WDR26-Related Disorder", "synonyms": "WDR26-Related Disorder", "disease-overview": "", "symptoms": "The symptoms of WDR26-related disorder vary among individuals. Not every person with the syndrome exhibits all of the symptoms or exhibits them in the same way. Symptoms can include:", "causes": "WDR26-related disorder is caused by changes (variants or mutations) in the WDR26 gene. In the individuals identified to date, the vast majority are de novo WDR26 gene variants. This means that the variants are not inherited from either parent, but instead are random variants that occur in a parent’s single egg or sperm prior to conception or during early embryologic development. The variants are heterozygous, which means that only one of two copies of an individual’s WDR26 gene has the variant.", "affected": "The exact number of individuals WDR26-related disorder is unknown and this condition is likely underrecognized. It affects both males and females and has been identified in people from all over the world.", "related-disorders": "WDR26-related disorder has overlapping features with many other neurodevelopmental disorders and seizure disorders.", "diagnosis": "WDR26-related disorder may be suspected based on the signs and symptoms associated with the disorder. The diagnosis is confirmed with molecular genetic testing that shows a disease-causing variant in the WDR26 gene.", "therapies": "Currently, there is no specific treatment for WDR26-related disorder. Care focuses on the individual’s symptoms. The medical team typically includes a genetic specialist, a neurologist and a developmental pediatrician, with other specialists involved as symptoms warrant. Early therapy is encouraged (physical, occupational, speech therapy) to ensure that the child achieves to the best of their abilities. Applied Behavior Analysis (ABA) therapy has been beneficial for some individuals."}
{"OrphaCode": "ORPHA:3447", "name_zh": "Weaver综合征", "Name": "Weaver syndrome", "disease_name": "Weaver Syndrome", "synonyms": "overgrowth syndrome with accelerated skeletal maturation, unusual facies and camptodactyly", "disease-overview": "Weaver Syndrome (WS) is a genetic condition which causes fast growth. Children usually start having symptoms before birth (prenatal onset). The primary symptom is growth and bone development (maturation) that occurs faster than usual, so affected individuals are taller than average. Intellectual disability, loose muscles (hypotonia) of the core, and rigid muscles (hypertonia) of the limbs with poor coordination are also seen. Physical differences of the face and feet are common. Babies with this syndrome have a hoarse low-pitched cry.", "symptoms": "The main symptom of WS is fast growth and bone development (maturation). Children with WS may be tall, they have a normal or high weight for their height. A large head size (macrocephaly) is also common. Some children with WS may not show symptoms until several months after birth. People with WS may have muscles that get more rigid over time (hypertonia), especially in the arms and legs. However, the muscles in their core may be looser (hypotonia). Due to their rigid muscles, individuals with WS may have poor coordination. Babies with this syndrome have a hoarse and low-pitched cry.", "causes": "WS is usually caused by harmful changes (mutations) in the EZH2 gene. These harmful changes cause the EZH2 gene to work incorrectly. The function of the EZH2 gene is to turn other genes on and off in a process called methylation. The EZH2 gene’s influence on the function of many other genes explains why WS affects many body systems. However, it is not known how these changes cause the specific symptoms of WS. Some people with WS do not have a mutation in the EZH2 gene.", "affected": "WS is a very rare disorder – only about 50 affected individuals have been identified.", "related-disorders": "Cohen-Gibson syndrome is considered a Weaver-like syndrome. It is marked by similar features as WS, but with other skeletal changes like a curved spine (scoliosis). Cohen-Gibson syndrome is an autosomal dominant genetic condition caused by changes in the EED gene.", "diagnosis": "The growth changes seen with WS are broad and could be caused by many overgrowth syndromes. Genetic testing can diagnose WS and finding a harmful change in the EZH2 gene confirms WS. Because the symptoms of WS are not specific, genetic testing may include many genes that cause overgrowth syndromes (gene panel).", "therapies": "Treatment of WS involves management of symptoms and is supportive. Physical therapy may be helpful for rigid muscles, foot differences and bent fingers or toes. Surgery may be needed to correct problems with the fingers, toes or feet. Therapies or individual education plans (IEPs) may be helpful for children with WS."}
{"OrphaCode": "ORPHA:3449", "name_zh": "Weill-Marchesani综合征", "Name": "Weil Syndrome", "disease_name": "Weil Syndrome", "synonyms": "Fiedler Disease", "disease-overview": "Weil syndrome, a rare infectious disorder, is a severe form of the bacterial infection caused by Leptospira bacteria known as leptospirosis. Weil syndrome is characterized by dysfunction of the kidneys and liver, abnormal enlargement of the liver (hepatomegaly), persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice), and/or alterations in consciousness. In most cases, Weil syndrome occurs among individuals who are exposed to affected animals.", "symptoms": "Symptoms of Weil syndrome usually start abruptly, with headache, disturbances in consciousness, pain in muscles and abdomen, a stiff neck, lack of appetite (anorexia), chills, nausea, vomiting, and fever.  Prostration, coughing, expectoration of blood-stained sputum (hemoptysis), and nosebleed (epistaxis) may also occur.  Yellowing of the skin (jaundice), bleeding in muscles, gastrointestinal tract, and visceral organs may be widespread.  Small purplish-red spots (petechiae) may appear, caused by hemorrhages in the skin. Enlarged lymph nodes, and continued fever may occur for several days. Respiratory distress syndrome which includes great difficulty breathing and dangerously low levels of oxygen in the blood (hypoxemia) may sometimes develop in Weil syndrome.", "causes": "Weil syndrome is caused by an infection from the bacteria Leptospira icterohemorrhagiae or other related types of this bacteria (such as L canicola, or L pomona).  The infection is usually transferred to humans through urine or tissue of an infected domestic or wild animal.  The infection enters through a skin abrasion or the mucous membranes.", "affected": "Weil syndrome may occur in people of all ages.  At least 75% of persons infected with this disorder are male.  It can be an occupational disorder striking farmers, veterinarians, or sewer and abattoir workers, but most patients are exposed incidentally during recreational activities.", "related-disorders": "Many types of bacterial infections may affect the liver, kidneys and respiratory organs, causing symptoms similar to those of Weil syndrome.", "diagnosis": "The results of various laboratory tests, including blood and urine tests, assist in the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3449", "name_zh": "Weill-Marchesani综合征", "Name": "Weill-Marchesani syndrome", "disease_name": "Weill Marchesani Syndrome", "synonyms": "congenital mesodermal dysmorphodystrophy", "disease-overview": "Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness. The eye (ocular) abnormalities can include small round lenses (microspherophakia), abnormal position of the lens (ectopia lentis) nearsightedness (myopia) resulting from the abnormal shape of the eye and lens and eye disease that damages the optic nerve (glaucoma) that can lead to blindness. Heart defects are present in some affected individuals. Weill Marchesani syndrome follows autosomal recessive or autosomal dominant inheritance.", "symptoms": "The symptoms and findings associated with Weill-Marchesani syndrome vary from person to person. Weill-Marchesani syndrome is characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness. Many affected individuals have additional craniofacial abnormalities including a narrow roof of the mouth (palate); a small, underdeveloped upper jaw (maxillary hypoplasia); and/or malformation and misalignment of certain teeth.", "causes": "Weill Marchesani syndrome follows autosomal recessive or autosomal dominant inheritance.", "affected": "Weill Marchesani syndrome is a very rare disorder. The prevalence has been estimated to be approximately 1 in 100,000.", "related-disorders": "Symptoms of the following disorders may be similar to those of Weill-Marchesani syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Simple ectopia lentis is an isolated eye (ocular) abnormality characterized by shifting or tilting (i.e., partial displacement) or complete displacement of the lens of the eye. In such cases, the condition may be present at birth or develop later during life. Simple ectopia lentis is usually inherited in an autosomal dominant pattern. In addition to Weill-Marchesani syndrome and simple ectopia lentis, abnormal position of the lens (ectopia lentis) may also occur in association with other underlying genetic disorders, including Marfan syndrome, a connective tissue disorder, and homocystinuria, a metabolic disorder. (For further information on these disorders, choose Marfan or homocystinuria as your search terms in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3344", "name_zh": "Weismann-Netter 综合征", "Name": "Weismann-Netter syndrome", "disease_name": "Weismann Netter Stuhl Syndrome", "synonyms": "anterior bowing of the legs with dwarfism", "disease-overview": "Weismann-Netter-Stuhl syndrome is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseousbo dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. Affected individuals will have some degree of short stature, which means that they are shorter than would otherwise be expected based on their gender and age. The medical definition states that short stature is two standard deviations or more below the mean for children of the same age and gender. The final height of affected individuals will vary. Researchers believe that alterations (mutations) in a gene result in Weismann-Netter-Stuhl syndrome. However, they have not been able to find such a gene. Researchers also believe that the disorder is inherited in an autosomal dominant manner.", "symptoms": "Although researchers have been able to establish a clear syndrome with characteristic or core symptoms, much about the disorder is not fully understood. Several factors including the small number of people identified with this disorder, the lack of large clinical studies, and the underlying cause of the disorder being unknown prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important to note that affected individuals may not have all the symptoms discussed below. Parents should talk to their children’s physicians and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "The exact, underlying cause of Weismann-Netter-Stuhl syndrome is unknown. Sometimes, the disorder runs in families. Researchers believe it is most likely caused by a change in a gene. However, no genes have been identified to be associated with the disorder. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the protein, this can affect many organ systems of the body.", "affected": "Weismann-Netter-Stuhl syndrome is an extremely rare skeletal disorder that affects males and females in equal numbers. Approximately 70 people have been reported in the medical literature since the disorder’s original description in 1954. However, because rare disorders like Weismann-Netter-Stuhl syndrome often go unrecognized, these disorders are under-diagnosed, making it difficult to determine the true frequency in the general population.", "related-disorders": "Symptoms of the following disorders can be similar to those of Weismann-Netter-Stuhl syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Campomelic syndrome is a rare congenital skeletal disorder characterized by short stature along with bowing and an unusual angular shape of the long bones of the legs. Congenital means that the symptoms are present at birth. The bones of the shoulders and pelvic area are often abnormal. Affected individuals may have 11 pairs of ribs instead of the usual 12. There are two forms of this disorder, the long-limbed form and the short-limbed form. The disorder may cause life-threatening complications in infancy because of breathing (respiratory) problems that result from a small chest size and underdevelopment (hypoplasia) of the windpipe and the airways that carry air into the lungs (bronchi). Campomelic syndrome is caused by changes to the SOX9 gene and is inherited as an autosomal recessive trait. (For more information on this disorder, choose Campomelic as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:902", "name_zh": "Werner综合征", "Name": "Werner syndrome", "disease_name": "Werner Syndrome", "synonyms": "Werner syndrome", "disease-overview": "Werner syndrome is a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria). Although the disorder is typically recognized by the third or fourth decades of life, certain characteristic findings are present beginning during adolescence and early adulthood.", "symptoms": "Children with Werner syndrome often appear unusually thin and during late childhood, have an unusually slow growth rate. In addition, there is absence of the growth spurt typically seen during adolescence. Affected individuals typically reach their final height by approximately 13 years of age. However, adult height may be reached as early as age 10 or as late as at age 18. Weight is also unusually low, even relative to short stature.", "causes": "Werner syndrome is caused by changes (mutations or variants) in the WRN gene. More than 80 different mutations of the WRN gene have been identified in individuals with the disorder.", "affected": "Werner syndrome is a rare disorder that affects males and females in equal numbers. Since the disorder was originally described in the medical literature in 1904 (O. Werner), more than 800 patients have been reported. The disorder’s frequency has been estimated at one to 20 per one million individuals in the United States. Although certain associated findings are present beginning during childhood, puberty and young adulthood, the disorder is most frequently recognized in the third or fourth decades of life.", "related-disorders": "Symptoms of the following disorders can be similar to those of Werner syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Hutchinson-Gilford progeria syndrome is a very rare disorder of childhood characterized by premature aging, short stature, and characteristic facial features. The primary symptoms of this disorder are those associated with the aging process. Children with this disease age very rapidly and suffer with disorders of the aged while they are young. At approximately 10 years of age, most children with Hutchinson-Gilford progeria syndrome attain the height of an average 3-year-old child. Arthritis often affects bone joints during childhood and adolescence. (For more information on this disorder, choose Hutchinson-Gilford Progeria as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:83594", "name_zh": "东方马脑炎", "Name": "Eastern equine encephalitis", "disease_name": "West Nile Encephalitis", "synonyms": "Eastern equine encephalitis", "disease-overview": "There are seventeen species of birds that are the known carriers of and transmit West Nile Encephalitis (WNE) to humans via the Culex, Aedes, and Anopheles mosquitoes. WNE first causes symptomatic or asymptomatic illness in wild migratory birds that act as viral replication factories. Wild birds infected with WNE contain high titers of the virus and remain viremic for 1-2 weeks, making them ideal hosts to perpetuate the disease. Mosquitoes transmit WNE from birds to humans. Horses, dogs, and other small animals may harbor WNE after being bitten; however, they are inefficient transmitters because viral titers are relatively low, and WNE viremia is short-lived in these animals.", "symptoms": "Patients with WNE may present with a wide range of severity in symptoms and may features of encephalitis, aseptic meningitis (meningoencephalitis), or both.  It is common for patients to have a mild febrile illness accompanied by headache, mental confusion, tremors, or flaccid paralysis. Symptoms are most obvious in people who are very young and people who are elderly. Many people who are infected (at least most children) are also often asymptomatic or have a nonspecific flu-like illness.  A minority of people may develop neurologic disease.", "causes": "Mosquito bites are the main culprits for the spread of WNE with an incubation period of WNE is 1-6 day but many patients may not provide a mosquito bite history. WNE usually occurs in the summer when mosquitoes, wild migratory birds, and humans are in close proximity outdoors. Mosquito bites, which are particularly prone to occur during feeding times (dawn and dusk) in the summer months, transmit WNE and prolonged contact or multiple mosquito bites enhances risk.", "affected": "In the US the initial cases of WNE were first identified in the greater New York area, but cases have now occurred in western states. Wild birds with WNE virus have also been identified in parts of Canada. WNE is common in the Middle East, Asia, and Africa WNE seropositivity of children in Egypt is approximately 50%. WNE is the most common cause of viral aseptic meningitis or encephalitis in patients presenting to emergency departments in Cairo. Both sexes are affected equally and it is more frequent in elderly patients.", "related-disorders": "Encephalopathy is a feature of many systemic illnesses that presents with encephalitis. Most of these patients have extra-CNS findings that suggest the underlying disease process. Common disorders with CNS manifestations that may mimic WNE include subacute bacterial endocarditis, Legionnaires Disease, Rocky Mountain Spotted Fever, Epstein-Barr virus infectious mononucleosis, human herpesvirus 6, and systemic lupus erythematosus cerebritis.", "diagnosis": "Electroencephalogram: This is the most sensitive way to make a presumptive diagnosis of HSV-1 encephalitis. An abnormal temporal lobe focus is present on EEG as early as the first few days of the disease.", "therapies": "Medical Care"}
{"OrphaCode": "ORPHA:3451", "name_zh": "West综合征", "Name": "Infantile spasms syndrome", "disease_name": "West Syndrome", "synonyms": "epileptic spasms", "disease-overview": "West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability. The spasms that occur may range from violent jackknife or salaam movements where the whole body bends in half, or they may be no more than a mild twitching of the shoulder or eye changes. These spasms usually begin in the early months after birth and can sometimes be helped with medication. They can also occur in older patients; if this happens, they are called epileptic spasms rather than infantile spasms. Currently, the International League Against Epilepsy (ILAE) has revised the terminology and epileptic spasms is now preferentially used to encompass the different age groups of onset. There are many different causes of epileptic spasms and if a specific cause can be identified, a diagnosis of symptomatic epileptic spasms can be made. If a cause cannot be determined, a diagnosis of cryptogenic epileptic spasms is made.", "symptoms": "Symptoms associated with West syndrome usually begin during the first year of life. The average age of onset for epileptic spasms is at 6 months. Epileptic spasms are characterized by involuntary muscle spasms that occur due to episodes of uncontrolled electrical disturbances in the brain (seizures). Each involuntary spasm typically begins suddenly and lasts for only a few seconds and occurs usually in clusters that can last over 10-20 minutes. Such episodes, which may occur upon awakening or after feeding, are characterized by sudden, involuntary contractions of the head, neck, and trunk and/or uncontrolled extension of the legs and/or arms. The duration, intensity, and muscle groups affected by seizures vary from infant to infant.", "causes": "A specific cause for West syndrome can be identified in approximately 70-75% of those affected. Any disorder that can lead to brain damage can be an underlying cause of West syndrome including trauma, brain malformations such as hemimegalencephaly or cortical dysplasia, infections, chromosomal abnormalities such as Down syndrome, neurocutaneous disorders such as tuberous sclerosis complex (TSC), Sturge Weber syndrome, incontinentia pigmenti, different metabolic/genetic diseases such as pyridoxine deficiency, non-ketotic hyperglycemia, maple syrup urine disorder, phenylketonuria, mitochondrial encephalopathies and biotinidase deficiency, Otahara’s syndrome, and an abnormality (mutation) in the ARX gene or CDKL5 gene located on the X chromosome.", "affected": "West syndrome is a rare neurological syndrome that can affect males and females. The X-linked form of West syndrome affects males more often than females.", "related-disorders": "Symptoms of the following disorders can be similar to those of West syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Epilepsy is a group of neurological disorders characterized by abnormal electrical discharges in the brain. It is characterized by loss of consciousness, convulsions, spasms, sensory confusion, and disturbances in the autonomic nervous system. Attacks are frequently preceded by an aura, a feeling of unease or sensory discomfort; the aura marks the beginning of the seizure in the brain. There are many different types of epilepsy and the exact cause is generally unknown. Epileptic spasm is a type of epilepsy.", "therapies": "Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, surgeons, and/or other health care professionals may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:51636", "name_zh": "WHIM综合征", "Name": "WHIM syndrome", "disease_name": "WHIM Syndrome", "synonyms": "warts, hypogammaglobulinemia, infections and myelokathexis syndrome", "disease-overview": "", "symptoms": "The symptoms of WHIM syndrome can vary greatly from one individual to another. Some individuals may have mild expression of the disorder and others may develop potentially life-threatening complications. Several factors including the small number of identified patients, the lack of large clinical studies and the possibility of other genes influencing the disease outcome prevent physicians from developing a perfectly accurate picture of associated symptoms and prognosis.", "causes": "WHIM syndrome is caused by multiple different variants in the chemokine receptor (CXCR4) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a variant in a gene occurs, the protein product may be faulty, inefficient or absent or have increased function. A single protein can affect many organ systems of the body. In the case of the known variants that cause WHIM syndrome, the variants make the protein hyperfunctional and are thus called gain-of-function variants.", "affected": "WHIM syndrome is an extremely rare disorder and its exact prevalence or incidence in the general population is unknown although it has been estimated at about 0.2 / million livebirths. Approximately 180 cases have been reported in the medical literature. Onset is usually in infancy or early childhood. Males and females are affected in equal numbers.", "related-disorders": "Symptoms of the following disorders can be similar to or confused with those of WHIM syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of WHIM syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including genetic tests. Individuals with a history of recurrent bacterial infections, neutropenia and recalcitrant warts should be tested for WHIM syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3452", "name_zh": "Whipple病", "Name": "Whipple disease", "disease_name": "Whipple Disease", "synonyms": "Intestinal Lipodystrophy", "disease-overview": "Whipple disease is a rare disease resulting from bacterial infection that leads to inadequate absorption of nutrients (malabsorption) from the intestine. It is believed to result from infection with bacteria known as Tropheryma whippelii. The infection usually involves the small intestine, but over time, the disease may affect various parts of the body, including the heart, lungs, brain, and eyes.", "symptoms": "The major symptoms of Whipple disease include abdominal pain after eating, joint pain, bouts of diarrhea, cough, chest pain, general weakness, and night sweats.  Typically there is fat present in the stool (steatorrhea).  Weight loss may occur because of a profound lack of appetite (anorexia).  Anemia may result due to insufficient levels of iron, and pain may occur in several widely scattered joints (polyarthritis).", "causes": "Whipple disease is caused by a rod-shaped bacterium called Tropheryma whippelii.  This bacterium was first identified in 1991/92.  Its natural habitats are unknown, but it appears likely that infection occurs by way of an environmental source and that the bacteria are introduced into the body through the mouth (peroral).", "affected": "Whipple disease affects more males than females in a ratio of approximately 4 to 1.  The symptoms of this disorder typically begin between the ages of thirty and sixty years.  The age range of those affected is thought to be between 30 and 80, with the median age at time of diagnosis being 56 years.  Most of the cases of Whipple disease have been diagnosed among Europeans and  Americans of European parentage.  In Germany, the disease incidence has been estimated at 0.4 per million population per year.  A few cases have been reported among American Indians and Americans of African descent. In 2004, for the first time, a case of Whipple disease was reported in Japan.", "related-disorders": "Symptoms of the following disorders can be similar to those of Whipple disease.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Crohn’s disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract.  Symptoms may include vomiting, fever, night sweats, loss of appetite, general weakness, and waves of abdominal pain and discomfort.  Diarrhea and bleeding from the rectum are common in people who have Crohn’s disease.  Weight loss is also common.  The symptoms of this disorder can be difficult to manage and diagnosis is often delayed. (For information on this disorder, choose Crohn’s Disease as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:468678", "name_zh": "智力障碍-小头畸形-斜视-行为异常综合征", "Name": "White-Sutton syndrome", "disease_name": "White-Sutton Syndrome", "synonyms": "POGZ-related intellectual disability", "disease-overview": "", "symptoms": "White-Sutton syndrome has variable expressivity, meaning there is a range of symptoms that can occur in people affected with this condition.", "causes": "White-Sutton syndrome is caused by genetic changes (disease-causing variants) in the POGZ gene. Genes are the body’s instruction manual for creating proteins that play critical roles in the body. This POGZ protein plays a crucial role in turning genes on and off (gene expression), especially in the brain, but also in other body parts. When a genetic change in a gene occurs, it causes the protein to stop working in the body. Depending on the function of the protein, it can affect different parts of the body. The medical problems that occur in White-Sutton syndrome happen because there’s not enough of the POGZ protein being made to do its job in the body.", "affected": "As of 2024, there have been at least 90 patients reported in the medical literature. White-Sutton syndrome is extremely rare. The number of people affected by this disorder is unknown. Rare disorders often go undiagnosed or misdiagnosed, making it extremely difficult to determine their true frequency in the general population. It has been estimated from exome sequencing tests that 1/1000 individuals with intellectual disability and autism have White-Sutton syndrome. With available information currently, males and females as well as all ethnicities are affected equally. Age of onset is typically in infancy.", "related-disorders": "There are many neurodevelopmental disorders that can cause signs and symptoms similar to those seen in people with White-Sutton syndrome. Genetic changes in TBR1 (intellectual developmental disorder with autism and speech delay), CNOT3 (intellectual developmental disorder with speech delay, autism and dysmorphic facies) and JARID2 (developmental delay with variable intellectual disability and dysmorphic facies) are just a few examples.", "diagnosis": "A diagnosis of White-Sutton syndrome is based on DNA testing results that show a disease-causing (pathogenic) variant in the POGZ gene. This disorder cannot be diagnosed based on symptoms alone. White-Sutton syndrome should be considered in any person with developmental delay, intellectual disability, learning difficulties, speech delay and any additional medical problems.", "therapies": "Treatment is based on the medical problems that are present in an affected person. A multidisciplinary team of pediatricians, physicians who specialize in the diagnosis and treatment of neurological disorders (neurologists), speech pathologists, physical therapists, gastroenterologists (stomach doctors) and other healthcare professionals can be involved in care."}
{"OrphaCode": "ORPHA:3454", "name_zh": "智力障碍-发育迟缓-挛缩综合征", "Name": "Wieacker Syndrome", "disease_name": "Wieacker Syndrome", "synonyms": "Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy", "disease-overview": "Wieacker syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.", "symptoms": "Symptoms of Wieacker syndrome include stiffening of the muscles and joints of the feet (contracture), slowly progressive atrophy of certain muscles of the legs and arms, and mild intellectual disability. Other symptoms are impairment or inability to move the eyes despite the wish to do so, and impairment in the use of face and tongue muscles. In some cases, affected individuals may have droopy eyelids (ptosis), crossed eyes (strabismus), and farsightedness (hyperopia). Abnormal curvature of the spine may also occur (kyphoscoliosis).", "causes": "Wieacker syndrome is inherited as an X-linked recessive trait. It is caused by a defect in the ZC4H2 gene, located on a particular site of the X chromosome (Xq13-q21). The ZC4H2 gene is expressed in the synapses of the nervous system and plays an important role during embryonic development of the central and peripheral nervous system.", "affected": "The prevalence of Wieacker syndrome is not known. Wieacker syndrome usually affects males, but some carrier females show mild manifestations of the disorder. As of 2015, the syndrome has been reported in 5 families. ZC4H2 gene mutations have also been identified in 3 sporadic patients who presented more or less severe intellectual disability and congenital contractures of multiple joints, at least equinovarus of the feet, associated with neurological symptoms such as muscle weakness, spasticity, seizures and ptosis. In one of the families, those affected had neonatal respiratory distress responsible for early death. Wieacker syndrome is therefore now considered to be part of a wider phenotype consisting of arthrogryposis multiplex congenita (congenital multiple joint contractures) and intellectual disability, caused by ZC4H2 gene mutations.", "related-disorders": "Symptoms of the following disorders can be similar to those of Wieacker Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Apraxia is a disorder of brain function characterized by the inability to perform learned movement on command, even though the command is understood and there is a willingness to perform the movement. The affected individual has the physical ability to move, but cannot. Apraxia is caused by a lesion in the neural pathways of the brain that contain the learned patterns of movement. It is often a symptom of other neurological disorders. (For more information on this disorder, choose Apraxia as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3455", "name_zh": "Wiedemann-Rautenstrauch综合征", "Name": "Wiedemann-Rautenstrauch syndrome", "disease_name": "Wiedemann Rautenstrauch Syndrome", "synonyms": "neonatal progeroid syndrome", "disease-overview": "Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a very rare genetic disorder characterized by an aged appearance at birth (old man look) growth delays before and after birth (prenatal and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy). It is anticipated that most individuals with WRS have decreased life expectancy. There are few individuals who have lived well in to their teens and even fewer still alive in their 20s. WRS represents a complex of symptoms and signs with an unknown cause, and pathogenesis remains distinct enough to allow a secure diagnosis. WRS is inherited as an autosomal recessive trait, as several pairs of siblings have been reported in families with unaffected parents.  Few of the parents were related by blood (consanguineous).", "symptoms": "WRS is characterized by an aged appearance at birth and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy). As a result, the skin may appear unusually thin, fragile, dry, shiny, wrinkled, and aged. Certain veins and muscles may be abnormally prominent, particularly those of the forehead. For unknown reasons, as affected infants age, abnormal deposits of fat may accumulate under the skin (subcutaneous) in lower (caudal) areas of the body, particularly around the buttocks, the areas around the genitals and the anus (anogenital area), and the area between the ribs and the hips (flanks). In addition, in infants and children with the disorder, the abdomen may appear unusually large and prominent.", "causes": "WRS is most likely inherited as an autosomal recessive genetic condition. Several siblings with WRS have been reported in unrelated families.", "affected": "WRS is an extremely rare genetic disorder that appears to affect males and females relatively equally. WRS has been observed in various ethnic and racial groups. The disorder was initially described as a distinct entity in 1979 (Wiedemann HR) based upon observation of two unrelated individuals as well as previous reports of two affected sisters in 1977 (Rautenstrauch T). More than 35 affected individuals have been reported in the medical literature to date.", "related-disorders": "Symptoms of the following disorders may be similar to those of Wiedemann-Rautenstrauch syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "WRS shares some common clinical characteristics with Hutchinson-Gilford progeria syndrome (HGPS). Similarly there was no telomere length shortening in skin fibroblast in a patient with WRS. This result differs from those observed in HGPS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:319182", "name_zh": "Wiedemann-Steiner综合征", "Name": "Wiedemann-Steiner syndrome", "disease_name": "Wiedemann-Steiner Syndrome", "synonyms": "", "disease-overview": "", "symptoms": "People with Wiedemann-Steiner syndrome can have a broad range of symptoms that affect many body systems. Not everyone will have all the symptoms mentioned below, and the body systems affected can differ from person to person. The symptoms may be present at birth but can also begin later during infancy or childhood.", "causes": "Wiedemann-Steiner syndrome is caused by changes (pathogenic variants or mutations) in the KMT2A gene (previously known as the MLL gene). This gene plays a role in the regulation of early development and blood production.", "affected": "The estimated prevalence of WSS in the general population is approximately 1 in 1,000,000 live births. WSS has been diagnosed more often are in the United States, China, and countries in Europe. This is likely due to better availability of genetic testing in these countries.", "related-disorders": "Some features of Coffin-Siris syndrome, Kabuki syndrome, Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, Noonan syndrome, and Suleiman-El-Hattab syndrome may be similar to those of Wiedemann-Steiner syndrome. These conditions are described below. Comparisons may be useful for a differential diagnosis.", "diagnosis": "Wiedemann-Steiner syndrome may be suspected in a child with certain facial features, developmental delay, intellectual disability and excessive body hair. Patients may or may not have organ problems. There are currently no established clinical diagnostic criteria for Wiedemann-Steiner syndrome. Therefore, a diagnosis cannot be established by clinical features alone.", "therapies": "Patients with WSS are treated for the specific symptoms they have. May different medical specialists may be involved in their care."}
{"OrphaCode": "ORPHA:3456", "name_zh": "Wildervanck综合征", "Name": "Wildervanck syndrome", "disease_name": "Wildervanck Syndrome", "synonyms": "cervico-oculo-acoustic syndrome", "disease-overview": "Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital). In individuals with KFS, there is abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Duane syndrome is characterized by limitation or absence of certain horizontal eye movements; retraction or drawing back of the eyeball into the eye cavity (orbit) upon attempting to look inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus). In some affected individuals, additional physical abnormalities may also be present. In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically).", "symptoms": "Wildervanck syndrome is typically characterized by three primary findings (triad). These include abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (Klippel-Feil syndrome); impairment or absence of certain eye (ocular) movements (Duane syndrome); and hearing impairment that is present at birth. However, according to some reports, this triad may be incomplete in some individuals with Wildervanck syndrome. In addition, in some cases, additional physical findings or intellectual disability may be present.", "causes": "In most cases, Wildervanck syndrome appears to occur randomly for unknown reasons (sporadically). Because the disorder primarily affects females, some researchers suggest that Wildervanck syndrome may be transmitted as an X-linked dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.", "affected": "As mentioned above, Wildervanck syndrome primarily affects females. Since the disorder was originally described in 1952 (L.S. Wildervanck), almost 90 cases have been reported in the medical literature. According to some reports, approximately one percent of females with hearing impairment may be affected by Wildervanck syndrome.", "related-disorders": "Symptoms of the following disorders may be similar to those of Wildervanck syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Duane syndrome is an eye movement disorder present at birth characterized by horizontal eye movement limitation [a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions]. In addition, when the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. In some cases, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot).", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:904", "name_zh": "威廉斯综合征", "Name": "Williams syndrome", "disease_name": "Williams Syndrome", "synonyms": "Beuren Syndrome", "disease-overview": "Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small lower jaw (mandible), and prominent ears. Dental abnormalities may also occur including abnormally small, underdeveloped teeth (hypodontia) with small, slender roots.", "symptoms": "Williams syndrome is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity, even among affected family members. Individuals with Williams syndrome will not have all the symptoms listed below. Some affected individuals do not have heart (cardiac) abnormalities; others may not have elevated levels of calcium in the body (hypercalcemia). In addition, the severity of these symptoms often varies greatly from case to case.", "causes": "Most cases of Williams syndrome appear to occur spontaneously (sporadically) for unknown reasons. However, some familial cases of the disorder have also been reported. Ongoing research indicates that sporadic and familial Williams syndrome result from deletions of genetic material from adjacent genes (contiguous genes) located on the long arm (q) of chromosome 7 (7q11.23). This chromosomal region has been designated Williams-Beuren Syndrome chromosome region 1 (WBSCR1).", "affected": "Williams syndrome is a rare disorder that affects males and females in equal numbers and infants of any race may be affected. The prevalence of this disorder is approximately one in 10,000-20,000 births in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Williams Syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). The disorder may be characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low hairline in the back of the head; and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings.  (For more information on this disorder, choose Noonan as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:654", "name_zh": "肾母细胞瘤", "Name": "Wilms’ Tumor", "disease_name": "Wilms’ Tumor", "synonyms": "embryoma kidney", "disease-overview": "Wilms’ tumor is a type of kidney cancer that typically occurs in young children. It is responsible for 95% of all malignant kidney tumors in patients under the age of 15 years old. Wilms’ tumor can occur in one kidney (unilateral) or in both kidneys (bilateral) and can spread throughout the rest of the body. There are about 650 new cases diagnosed each year in the United States with the average age of diagnosis being 2 to 5 years of age.", "symptoms": "Young children with Wilms’ tumor often show no signs or symptoms. The first sign that is often seen in patients with Wilms’ tumor is a large lump in the abdomen, also known as a mass, and can be associated with abdominal pain and swelling. Most parents may not notice the mass until it is large enough to be felt when bathing or dressing the child. Other symptoms are more common in older children and may include pain, anemia, fever, blood in the urine, nausea or vomiting or both, constipation, loss of appetite, shortness of breath and high blood pressure. There may be severe abdominal pain if the tumor ruptures or bleeds.", "causes": "Kidneys start developing as the fetus grows in the womb. At about 3 years of age kidney cells become mature but in children with Wilms’ tumor, not all kidney cells mature. These immature kidney cells begin to cluster into a mass that grows out of control leading to a tumor in the kidney.", "affected": "Wilms’ tumor is the most common pediatric kidney cancer, and the fourth most common pediatric cancer overall. Wilms’ tumor affects approximately 1 in 10,000 children with the median age of onset being 3.5 years. Girls are slightly more likely than boys to develop Wilms’ tumor and African Americans are also at a higher risk.", "related-disorders": "Differential diagnosis is the process of differentiating between two or more conditions with similar signs or symptoms. Below are diseases that may impact the ability to appropriately diagnose Wilms’ tumor in a patient.", "diagnosis": "To diagnose Wilms’ tumor the doctor will first take a full medical history of all past and present conditions, medications and family history. The doctor will then perform a physical examination. If the doctor is suspicious of Wilms’ tumor, he or she may obtain an ultrasound of the abdomen and/or kidneys to define where the mass is coming from.", "therapies": "Staging and Treatment"}
{"OrphaCode": "ORPHA:905", "name_zh": "肝豆状核变性", "Name": "Wilson disease", "disease_name": "Wilson Disease", "synonyms": "hepatolenticular degeneration", "disease-overview": "Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death. Early diagnosis and treatment may prevent serious long-term disability and life threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter.", "symptoms": "Wilson disease is a rare genetic disorder beginning with liver dysfunction where damage begins by six years of age, but usually presents clinically in teenage years or early twenties. Common signs of associated liver disease include a yellow discoloration (jaundice) of the skin, mucous membranes and the membranes (sclera) that line the eye, swelling (edema) of the legs and abdomen (ascites) due to abnormal retention of fluid, presence of abnormal blood vessels in the esophagus that may bleed (esophageal varices), a tendency for bruising and prolonged bleeding, and excessive tiredness (fatigue). Some individuals with Wilson disease may have only abnormalities of liver function test and may show no other symptoms until many years later.", "causes": "Wilson disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.", "affected": "Wilson disease is a rare disorder that affects males and females in equal numbers. The disease is found in all races and ethnic groups. Although estimates vary, it is believed that Wilson’s disease occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene. Although only about 2,000-3,000 cases have been diagnosed in the United States, other affected individuals may be misdiagnosed with other neurological, liver or psychiatric disorders. According to one estimate, there may actually be 9,000 people affected by Wilson’s disease in the United States.", "related-disorders": "Symptoms of the following disorders can be similar to those of Wilson disease. Comparisons may be useful for a differential diagnosis:", "diagnosis": "If the patient presents with mild liver disease, the most common mistaken diagnosis is viral hepatitis. Viral antigen and copper studies should differentiate. If cirrhosis is well established and the patient drinks alcohol, an incorrect diagnosis of alcoholic cirrhosis is often made. Copper studies should differentiate. If the patient presents with tremor, an incorrect diagnosis of essential tremor, or early Parkinson’s disease may be made. Again copper studies should differentiate. If psychiatric symptoms are pronounced, an incorrect diagnosis of substance abuse may be made. Again, copper studies should differentiate.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3460", "name_zh": "Torg-Winchester综合征", "Name": "Torg-Winchester syndrome", "disease_name": "Winchester Syndrome", "synonyms": "MMP14-related multicentric osteolysis, nodulosis, and arthropathy", "disease-overview": "", "symptoms": "The primary signs of Winchester syndrome are skeletal changes that involve thinning or weakening of the bone (multifocal osteoporosis), loss of bone tissue (progressive osteolysis), low bone mineral density (osteopenia) and joint issues (arthropathy) which encompass degenerative changes in the hands, feet, elbows, shoulders, knees, hips and spine. Due to loss of bone tissue and density, fractures may be more prevalent. Age of onset varies from 3 months to 22 years. Typically, the syndrome becomes apparent around the age of two years. The beginning signs of this syndrome are osteolysis particularly of the hands and feet which causes pain and limited movement. The accumulation of these skeletal abnormalities leads to short stature in the affected individual.", "causes": "Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP).", "affected": "Since the original description of this syndrome in 1969, only about a dozen affected individuals have been described in the medical literature. Those identified with the syndrome to date have included individuals of Mexican, Puerto Rican and Iranian descent. More recently, multiple affected individuals of South Asian (India and Pakistan) and East Asian (Korean and Japanese) ancestry have been reported. Between 1969-2001, only 12 affected individuals with Winchester syndrome were reported worldwide. It appears that Winchester is more common in females than males with a female to male ratio of 3:1 (nine females, three males). Additional affected individuals may be undiagnosed or misdiagnosed.", "related-disorders": "Winchester syndrome is considered to be part of a spectrum of diseases called multicentric osteolysis nodulosis and arthropathy spectrum. These conditions are characterized by a loss of bone tissue (osteolysis) in the hands and feet. This osteolysis commonly spreads to other areas of the body, causing joint problems in elbows, shoulders, knees, hips and the spine. Patients usually have low bone mineral density (osteopenia) and tinning of the bones (osteoporosis) that lead to short stature. Patients develop subcutaneous nodules and may have skin findings such as dark, thick and leathery skin patches. Coarse facial features and corneal opacity are common symptoms. Conditions in this spectrum of diseases are caused by variants in the MMP14 or MMP2 gene and are inherited in a recessive manner.", "diagnosis": "A diagnosis of Winchester syndrome can be made in one of two ways. There are established clinical criteria and there is clinical genetic testing that can identify variants in the MMP14 gene.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:247768", "name_zh": "苗勒管发育不全和雄激素增多症", "Name": "Müllerian aplasia and hyperandrogenism", "disease_name": "WNT4 Deficiency", "synonyms": "Biason-Lauber syndrome", "disease-overview": "WNT4 deficiency is a rare genetic disorder that affects females. It is characterized by the absence or underdevelopment of the uterus and sometimes absence or underdevelopment of the vagina. Affected females also experience abnormally high levels of androgens (hyperandrogenism), which are male sex hormones. Androgens promote and control the development of male sex characteristics and, consequently, affected females may have certain symptoms such as a male pattern of hair growth (hirsutism). Females with WNT4 deficiency develop normal secondary sexual characteristics during puberty (e.g., breast development and pubic hair), but do not have a menstrual cycle (primary amenorrhea). The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. Because of the nature of the disorder, WNT4 deficiency can cause significant psychological challenges and counseling is recommended. WNT4 deficiency is caused by mutations of the WNT4 gene.", "symptoms": "The case reports of individuals with WNT4 deficiency in the medical literature are limited, making it difficult to determine an accurate picture of the disorder. More cases must be indentified in order to achieve a better understanding of WNT4 deficiency and the potential spectrum of associated symptoms.", "causes": "WNT4 deficiency is caused by mutations in the WNT4 gene. This genetic mutation can occur randomly as a spontaneous event (i.e., new mutation) or it can be inherited as an autosomal dominant trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.", "affected": "WNT4 deficiency is an extremely rare disorder that affects females. The exact incidence of the disorder is unknown and it has only been identified in several women worldwide. Researchers believe that cases of WNT4 deficiency may often go undiagnosed or misdiagnosed, making it difficult to determine the disorder’s true frequency in the general population. WNT4 deficiency is present at birth (congenital), but can go unidentified until adolescence.", "related-disorders": "Symptoms of the following disorders can be similar to those of WNT4 deficiency. Comparisons may be useful for a differential diagnosis.", "diagnosis": "In some cases, females with WTN4 deficiency come to the attention of physicians due to the failure of menstrual cycles to begin during puberty (primary amenorrhea). A diagnosis of WNT4 deficiency may be suspected based upon a thorough clinical evaluation, a detailed patient history and the identification of characteristic symptoms such as an absent or underdevelopment uterus and/or vagina occurring in association with normal external genitalia. Molecular genetic analysis can reveal characteristic mutations of the WNT4 gene and confirm a diagnosis of WNT4 deficiency.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:280", "name_zh": "Wolf-Hirschhorn综合征", "Name": "Wolf-Hirschhorn syndrome", "disease_name": "Wolf-Hirschhorn Syndrome", "synonyms": "4p- syndrome", "disease-overview": "", "symptoms": "The features of WHS can vary widely between different affected individuals. The most distinctive feature of WHS is the typical facial appearance. Individuals with WHS usually have widening and prominence of the area located at the top of the nose between the eyebrows (the glabella). This is associated with prominent, wide-spaced eyes, arched eyebrows, and a smallness of the lower part of the face, including a short upper lip and smallness of the mouth and jaw. This leads to the bridge of the nose being the focal point of the face.", "causes": "Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder in which the WHSCR (Wolf Hirschhorn syndrome critical region) on the short arm of chromosome 4 is missing (deleted). In most instances, additional material around the WHSCR is deleted as well.", "affected": "WHS is an extremely rare disorder. Studies undertaken about 25 years ago suggested that the disorder occurred in approximately 1 in about 50,000 live births with a female to male ratio of 2:1. More recent studies suggest that the frequency of the disorder is underestimated because of misdiagnosis.", "related-disorders": "Syndromes involving deletions of other chromosomes may be similar to Wolf- Hirschhorn syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of WHS may be suggested by the characteristic facial appearance, growth failure, developmental delays, and seizures. The diagnosis is confirmed by detection of a deletion of the Wolf-Hirschhorn syndrome critical region (WHSCR) by cytogenetic (chromosome) analysis. Conventional cytogenetic analysis (karyotype) detects less than half of the deletions that cause WHS. Fluorescence in situ hybridization (FISH) using a WHSCR probe has much better detection rate than standard karyotype and will detect most patients. However, the diagnostic test of choice is chromosomal microarray, which detects essentially all deletions of the WHSCR and defines the size of the deletion. Chromosomal microarray can also find other chromosome rearrangements, such as extra pieces of other chromosomes that are seen in many patients with WHS.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3463", "name_zh": "Wolfram综合征", "Name": "Wolfram syndrome", "disease_name": "Wolfram Syndrome", "synonyms": "diabetes insipidus, diabetes mellitus, optic atrophy and deafness", "disease-overview": "", "symptoms": "The symptoms and rate of progression of Wolfram syndrome vary between affected individuals. The primary symptoms of Wolfram syndrome (diabetes mellitus, optic atrophy, diabetes insipidus, hearing loss and nervous system dysfunction) can emerge at different ages and change at different rates. If some of these symptoms never appear at all, the patient’s condition would be called a WFS1-related disorder.", "causes": "Wolfram syndrome is caused by variants in the WFS1 (most common) or WFS2 (CISD2) gene that are inherited in an autosomal recessive pattern in most affected individuals, although dominant forms exist.", "affected": "Since diabetes mellitus and optic atrophy usually begin before the age of 16, Wolfram syndrome is often diagnosed in childhood to adolescence. However, onset or recognition of key symptoms or confirmation of the diagnosis with genetic testing can come much later in some patients. Wolfram syndrome affects males and females in equal numbers and is equally prevalent worldwide.", "related-disorders": "The following disorders have symptoms like some of the symptoms of Wolfram syndrome:", "diagnosis": "Wolfram syndrome is difficult to diagnose. In many instances, people with this disorder and their doctors may be unaware that the various symptoms and complaints are related and indicate a specific disorder. Initially, the focus may be on one symptom, typically diabetes mellitus, and its treatment. Later, the presence of other symptoms may become apparent. Wolfram syndrome should be considered in anyone with diabetes mellitus and optic atrophy; anyone with low frequency sensorineural hearing loss; anyone with either diabetes mellitus or optic atrophy in addition to hearing loss or diabetes insipidus or bladder dysfunction or loss of sense of smell or a family member with Wolfram syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:75233", "name_zh": "酸性脂酶缺乏症", "Name": "Wolman Disease", "disease_name": "Wolman Disease", "synonyms": "acid cholesteryl ester hydrolase deficiency, Wolman type", "disease-overview": "", "symptoms": "The symptoms of Wolman disease usually become apparent shortly after birth, usually during the first few weeks of life. Affected infants may develop bloating or swelling of the stomach (abdominal distention) and may have significant enlargement of the liver and spleen (hepatosplenomegaly). Scarring (fibrosis) of the liver may also occur. In some cases, fluid may accumulate in the abdominal cavity (ascites).", "causes": "Wolman disease is caused by mutations in the lysosomal acid lipase (LIPA) gene. The LIPA gene contains instructions for producing the enzyme lysosomal acid lipase. This enzyme is essential for breaking down (metabolizing) certain fats in the body, especially cholesterol (specifically cholesteryl esters) and to a lesser degree triglycerides. Without proper levels of this enzyme, these fats abnormally accumulate in and damage various tissues and organs of the body. Mutations in the LIPA gene that cause Wolman disease result in the lack of production of the LIPA enzyme or production of a defective, inactive form of the LIPA enzyme.", "affected": "Wolman disease is an extremely rare disorder that affects males and females in equal numbers. More than 50 cases have been reported in the medical literature. However, cases may go undiagnosed or misdiagnosed making it difficult to determine the disorder’s true frequency in the general population. Wolman disease is named after one of the physicians who first identified the disorder in the medical literature in 1956.", "related-disorders": "Symptoms of the following disorders can be similar to those of Wolman disease. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Wolman disease may be suspected in newborn infants based upon identification of characteristic symptoms such as abnormally enlarged liver and gastrointestinal problems. A diagnosis may be confirmed by a thorough clinical evaluation, a detail patient history (including family history) and specialized tests that reveal absence or deficient activity of the enzyme lysosomal lipase acid (LIPA) in certain cells and tissues of the body. Molecular genetic testing for mutations in the LIPA gene is also available.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:53719", "name_zh": "脑-视网膜动静脉瘤综合征", "Name": "Wyburn-Mason syndrome", "disease_name": "Wyburn-Mason Syndrome", "synonyms": "Bonnet-Dechaumme-Blanc syndrome", "disease-overview": "", "symptoms": "The symptoms associated with Wyburn-Mason syndrome vary greatly among affected individuals based upon the specific number and location(s) of associated arteriovenous malformations. Affected infants may have abnormalities affecting the eyes, central nervous system and, in rare cases, the skin.", "causes": "The exact cause of Wyburn-Mason syndrome is unknown. It is considered a developmental abnormality characterized by AVMs. No specific genetic abnormality or hereditary tendencies have been identified. The specific, underlying mechanism(s) that cause AVMs in Wyburn-Mason syndrome are not known. However, they are thought to result from abnormalities of blood vessel development during embryonic or fetal growth.", "affected": "Wyburn-Mason syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. The incidence or prevalence rates of Wyburn-Mason syndrome in the general population are unknown, with less than 100 cases reported.", "related-disorders": "Comparisons with the following conditions may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of Wyburn-Mason syndrome may be made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings, especially ocular findings. Imaging studies such as a computed tomography (CT) scan or magnetic resonance imaging (MRI) may be performed to detect potentially dangerous central nervous system (CNS) malformations. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field to produce cross-sectional images of particular organs such as the brain. Dye (contrast) can be injected into blood vessels and X-ray images taken (cerebral angiogram) to see AVMs in the brain, or photos can be taken of the back of the eye (fluorescein angiogram) to detect the AVM in the eye. The combination of AVM in the brain and eye make the diagnosis of Wyburn Mason syndrome.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:2442", "name_zh": "X连锁淋巴增殖性疾病", "Name": "X-linked lymphoproliferative disease", "disease_name": "X linked Lymphoproliferative Syndrome", "synonyms": "Duncan Disease", "disease-overview": "X-linked lymphoproliferative (XLP) syndrome is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV). This virus is common among the general population and is relatively well-known because it is the cause of infectious mononucleosis (IM), usually with no long-lasting effects. However, in individuals with XLP, exposure to EBV may result in severe, life-threatening fulminant hepatitis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections; malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of symptoms and findings associated with XLP may vary considerably from case to case. In addition, the range of effects may change in an affected individual over time. In most cases, individuals with XLP experience an onset of symptoms anytime from ages about 6 months to 10 years of age.", "symptoms": "X-linked lymphoproliferative syndrome (XLP), an extremely rare inherited disorder, is characterized by a range of symptoms and findings that occur due to a defective immune system response to infection with the Epstein-Barr virus (EBV).  This virus is common among the general population and usually infects silently, causing no apparent symptoms (asymptomatic).  In some other cases, particularly during adolescence, EBV infection may cause infectious mononucleosis (IM), usually with no long-lasting effects (benign, self-limited IM).  However, males with XLP who are exposed to Epstein-Barr virus may develop severe, life-threatening hepatic (liver) form infectious mononucleosis and hepatitis, abnormally low levels of antibodies or immunoglobulins (hypogammaglobulinemia) in the blood and body secretions, malignancies of certain types of lymphoid tissue (B-cell lymphomas), or other abnormalities.", "causes": "X-linked lymphoproliferative syndrome (XLP) is inherited as an X-linked recessive genetic trait. The gene map location of the altered (mutated) has been tracked to a site at Xq25.  The genetic trait is transmitted in an X-linked recessive mode as a result of which it is nearly always fatal to the male fetus or to male babies.", "affected": "X-linked lymphoproliferative syndrome is an extremely rare disorder that is usually fully expressed in males only.  About 400± cases affecting males in more than 80 multigenerational families (kindreds) from several different countries have been reported in the medical literature.  Researchers estimate that approximately one to two in every one million males are affected by XLP.", "related-disorders": "Symptoms of the following disorders may be similar to those of X-linked lymphoproliferative syndrome.  Comparisons may be useful for a differential diagnosis:", "diagnosis": "Because gene mutations that cause X-linked lymphoproliferative syndrome (XLP) have been identified, precise genetic testing may now be possible. However, such testing may only be available through research laboratories with a special interest in this disease.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:43", "name_zh": "X连锁肾上腺脑白质营养不良", "Name": "X-linked adrenoleukodystrophy", "disease_name": "X-Linked Adrenoleukodystrophy", "synonyms": "ALD", "disease-overview": "", "symptoms": "The signs and symptoms of can vary widely, even among members of the same family. Some individuals have serious complications in infancy or childhood while others develop symptoms as adults. Some individuals do not develop symptoms (asymptomatic) until adulthood. The progression of the disorder can also vary. There are different forms of ALD.", "causes": "ALD is caused by a variation (mutation) in the ABCD1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.", "affected": "The prevalence of ALD is estimated to be between 1 in 10,000 and 1 in 17,000 individuals in the general population. Prevalence refers to the number of people in the general population who have a disorder at any given time. Rare disorders like ALD often go undiagnosed or misdiagnosed making it difficult to determine the true frequency of the disorder in the general population. The condition occurs throughout the world in all ethnic groups.", "related-disorders": "Symptoms of the following disorders can be similar to those of ALD. Comparisons may be useful for a differential diagnosis. Specific differential diagnoses depend upon the specific form of ALD. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)", "diagnosis": "A diagnosis of ALD is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests.", "therapies": "Treatment may require the coordinated efforts of a team of specialists. Pediatricians, general internists, physicians who specialize in diagnosing and treating disorders of the brain and nervous system (pediatric neurologists), adult neurologists, physicians who specialize in diagnosing and treating disorders of the urinary system (urologists), physicians who specialize in diagnosing and treating disorders of the endocrine system (endocrinologists), psychiatrists, physical therapists, and other healthcare professionals may need to systematically and comprehensively plan treatment."}
{"OrphaCode": "ORPHA:25980", "name_zh": "X连锁肌病伴过度自噬", "Name": "X-linked myopathy with excessive autophagy", "disease_name": "X-Linked Myopathy with Excessive Autophagy", "synonyms": "XMEA", "disease-overview": "X-linked myopathy with excessive autophagy (XMEA) is a very rare genetic condition. Autophagy is the process of breaking down damaged or unnecessary cell parts such as proteins and organelles. The most common feature of XMEA is muscle disease (myopathy) and slowly worsening muscle weakness, especially in the legs. This disorder is caused by a harmful change (mutation) in the VMA21 gene located on the X chromosome. The inheritance pattern of XMEA is X-linked, meaning that typically only males are affected and females are unaffected carriers. Signs and symptoms usually start between 5-10 years of age, but some patients do not become symptomatic until later in life. There are currently no specific treatments for XMEA. Management focuses on symptoms and may include physical therapy and exercise. XMEA was first reported in medical literature in 1988 and the VMA21 gene was discovered to be the cause of XMEA in 2013.", "symptoms": "Symptoms of XMEA often appear in the first 10 years of life. First signs include an unusual walking pattern (gait) and problems running or climbing stairs. The muscles most affected include the shoulders, hips, thighs and occasionally ankles. The slowly progressive weakness tends to start with muscles that are closer to the center of the body (proximal muscles) such as the upper legs. During the second decade of life the upper limbs and shoulders may be affected. In some patients, muscles far away from the center of the body (distal muscles) such as the hands and feet may become involved. Patients may also experience joints that are tightened or flexed in fixed positions (joint contractures). Symptoms tend to stay consistent, but it is possible that they may worsen with age. Older patients often need help walking and may experience muscle wasting (atrophy). It is common for patients in their 50s and 60s to use a wheelchair. The heart, brain, spinal cord and lungs are not usually affected by XMEA. This condition does not typically lead to a shortened life span.", "causes": "XMEA is caused by a harmful change (mutation) in the VMA21 gene. The VMA21 gene is responsible for creating a protein that aids in an important cellular process known as autophagy. Autophagy comes from the Greek words auto (self) and phagein (to eat). It is a normal and important process in which cells get rid of toxins and waste and recycle damaged cell parts. A non-working VMA21 gene leads to an incorrect and increased process of autophagy. This process occurs in the lysosomes which are specialized compartments inside our cells. They aid in autophagy, help the cell dispose of waste and break down particles. The mutation in the VMA21 gene causes increased acidity in the lysosomes, and they are no longer able to fully break down cell waste. This leads to build-up of lysosomes and other cell parts responsible for autophagy. This is what causes the symptoms commonly seen in XMEA.", "affected": "XMEA is very rare. Less than 1 in 1,000,000 people are affected with this condition. Because this disorder is often unrecognized, it may not be diagnosed in all affected individuals. This can make it difficult to determine the true number of people who have XMEA.", "related-disorders": "There are several other muscle diseases that occur due to irregular autophagy. Conditions in this category have similar findings on a muscle biopsy and are caused by a problem with autophagy and/or lysosomal function. Lysosomes are specialized compartments inside cells that aid in autophagy, help the cell dispose of waste, and break down particles. Diseases related to abnormal autophagy (autophagic vacuolar myopathies) tend to primarily affect heart and skeletal muscles.", "diagnosis": "Muscle biopsy can diagnose XMEA and findings are consistent across all patients with XMEA. A diagnosis can also be made by genetic testing if a mutation is found in the VMA21 gene that results in a reduced amount of protein product.", "therapies": "Currently there are no therapies specific to XMEA. Management of the condition is based on specific symptoms. Physical therapy can be helpful to improve mobility and reduce joint contractures. It is also important to exercise and keep a healthy diet."}
{"OrphaCode": "ORPHA:596", "name_zh": "X连锁中央核性肌病", "Name": "X-Linked Myotubular Myopathy", "disease_name": "X-Linked Myotubular Myopathy", "synonyms": "MTM", "disease-overview": "", "symptoms": "The specific symptoms and severity of XLMTM can vary greatly from one person to another, though the majority of individuals with MTM have a severe presentation. While the disorder may be fatal during infancy or childhood, some affected individuals will only develop mild to moderate symptoms. Because of the variable nature of XLMTM, parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.", "causes": "XLMTM is caused by a mutation in the myotubularin (MTM1) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.", "affected": "XLMTM primarily affects males. Some carrier females may develop mild symptoms associated with the disorder. The exact incidence of the disorder is unknown, but one estimate places it at 1 in every 50,000 male births in the general population. It is the most common form of centronuclear myopathy.", "related-disorders": "Symptoms of the following disorders can be similar to those of XLMTM. Comparisons may be useful for a differential diagnosis.", "diagnosis": "XLMTM should be suspected in newborns with hypotonia and muscle weakness and older male children with weakness in the arms and legs and diminished muscle bulk. A diagnosis is based upon identification of additional characteristic symptoms (e.g. cryptorchidism, long fingers and toes, macrocephaly), a detailed family history, a thorough clinical evaluation, and a variety of specialized tests.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:306597", "name_zh": "X连锁Opitz G/BBB综合征", "Name": "X-linked Opitz GBBB Syndrome", "disease_name": "X-linked Opitz GBBB Syndrome", "synonyms": "hypertelorism-hypospadius syndrome (obsolete)", "disease-overview": "X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial differences, respiratory and genitourinary abnormalities and other midline abnormalities as well as developmental delay and intellectual disabilities. There is a wide variability in severity of this condition, even among members of the same family. X-linked Opitz G/BBB syndrome is an X-linked genetic condition associated with changes (pathogenic variants or mutations) in the MID1 gene.", "symptoms": "X-linked Opitz G/BBB syndrome is a rare genetic disorder mainly characterized by facial differences, respiratory and genitourinary abnormalities as well as developmental delay or intellectual disabilities.", "causes": "The MID1 gene is the only gene known to be associated with X-linked Opitz G/BBB syndrome.", "affected": "The prevalence of X-linked Opitz G/BBB syndrome is estimated to be 1/50,000-1/100,000 males.", "related-disorders": "Chromosome 22q11.2 deletion syndrome is now known to include the autosomal dominant form of Opitz G/BBB syndrome. In addition to the different inheritance pattern, this condition can be distinguished from X-linked Opitz G/BBB syndrome by chromosome analysis that often shows a submicroscopic deletion of chromosome 22. (For more information on this disorder, choose chromosome 22q11.2 deletion as your search term in the Rare Disease Database.)", "diagnosis": "The diagnosis of Opitz G/BBB syndrome is usually suspected based on clinical findings. It is not possible to distinguish this condition from chromosome 22q11.2 deletion syndrome (autosomal dominant Opitz G/BBB syndrome) based on physical features alone. Diagnosis of X-linked Opitz syndrome can be confirmed by molecular genetic testing for variants in the MID1 gene and 15%-45% of affected males have been found to have a MID1 gene variant.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:443197", "name_zh": "X连锁遗传性红细胞生成性原卟啉症", "Name": "X-linked erythropoietic protoporphyria", "disease_name": "X-Linked Protoporphyria", "synonyms": "XLDPP", "disease-overview": "", "symptoms": "Hypersensitivity of the skin to sunlight is the characteristic finding of X-linked protoporphyria. Affected individuals develop pain, itching, and burning of the skin after exposure to sunlight. Sometimes these symptoms are accompanied by swelling and redness (erythema) of the affected areas. Large blisters and severe scarring, which are common to other forms of cutaneous porphyria, usually do not occur in individuals with X-linked protoporphyria. Symptoms may be noticed as quickly as a few minutes after exposure to the sun. Although most symptoms usually subside within 24-48 hours, pain and a red or purple discoloration of the skin may persist for several days after the initial incident. Pain is disproportionately severe in relation to the visible skin lesions. Pain associated with X-linked protoporphyria can be excruciating and is often resistant to pain medications, even narcotics.", "causes": "X-linked protoporphyria is caused by gain-of-function mutations to the ALAS2 gene located on the X chromosome and is inherited as an X-linked dominant disorder. In contrast to most X-linked disorders, which are recessive, X-linked dominant disorders are evident in a female with one normal X chromosome and one affected X chromosome.", "affected": "X-linked protoporphyria affects males and females. However, males usually develop a severe form of the disorder while females with an ALAS2 mutation may range from having no symptoms (asymptomatic) to developing a severe form of the disorder. The exact incidence or prevalence of X-linked protoporphyria is unknown. The disorder has only been reported in the medical literature in a handful of families in Europe, South Africa and Japan.", "related-disorders": "Symptoms of the following disorders can be similar to those of X-linked protoporphyria. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of X-linked protoporphyria is based upon identification of characteristic symptoms (e.g., non-blistering photosensitivity), a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.", "therapies": "The treatment of X-linked protoporphyria is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, hematologists, dermatologists, hepatologists, and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment."}
{"OrphaCode": "ORPHA:792", "name_zh": "X连锁视网膜劈裂症", "Name": "X-linked retinoschisis", "disease_name": "X-linked Retinoschisis", "synonyms": "juvenile retinoschisis", "disease-overview": "X-linked retinoschisis (XLRS) is a genetic condition affecting boys and men. It is typically diagnosed in childhood, in some cases as early as three months of age. The main symptom is reduced vision that cannot be improved with glasses. While some people with XLRS may experience progressive vision loss throughout their life, other people may have relatively stable vision throughout their lifetime. XLRS is caused by mutations in a gene on the X chromosome called RS1 which encodes a protein called retinoschisin. This protein is important for the development and maintenance of the retina (the tissue lining the back of the eye). Without normal retinoschisin protein, the layers of the retina split (schisis), inter-cell communication is disrupted and vision is lost.", "symptoms": "The main symptom of XLRS is reduced visual acuity. While variable, vision is typically in the 20/60 to 20/120 range. Some people with XLRS experience retinal detachment or bleeding within the eye.", "causes": "XLRS is caused by a change (mutation) in a gene. Genes provide information and instruction to make proteins, much like a blueprint. Proteins are the building blocks of cells and allow cells to have their unique functions.", "affected": "The prevalence of XLRS is approximatley1 in 10,000.", "related-disorders": "", "diagnosis": "Diagnosis of XLRS is made by eye examination using various testing modalities. Individuals have reduced vision, schisis that can be seen on examination and imaging, and abnormal electroretinograms (a test that assesses the function of the retina) in most cases. Some individuals also have a family history consistent with X-linked inheritance. Molecular genetic testing for mutations in the RS1 gene is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:910", "name_zh": "着色性干皮病", "Name": "Xeroderma Pigmentosum", "disease_name": "Xeroderma Pigmentosum", "synonyms": "XP", "disease-overview": "", "symptoms": "Individuals with XP are particularly sensitive to the DNA damaging effects of UV. Sources of UV include the sun, unshielded florescent light bulbs, mercury vapor lights and halogen light bulbs. Symptoms may differ from person to person, but typically impact the skin, eyes, nervous system. Patients with XP may develop multiple thyroid nodules, premature menopause or leukemia.", "causes": "Inheritance", "affected": "XP affects males and females in equal numbers. Some gene mutations associated with XP are more common in certain parts of the world; in these locations there is a higher prevalence of XP. In the United States and Europe, prevalence of XP is about 1 in 1,000,000. In Japan, XP is much more common, affecting 1 in 22,000. Areas of North Africa (e.g., Tunisia, Algeria, Morocco, Libya, Egypt) and the Middle East (e.g., Turkey, Israel, Syria) also show a greatly increased prevalence of XP.", "related-disorders": "There are several genetically related disorders caused by mutations in genes in the nucleotide excision (NER) pathway. People with these disorders demonstrate very different symptoms despite having mutations in some of the same genes as XP patients. These conditions include Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, trichothiodystrophy (TTD), and UV-sensitive syndrome.", "diagnosis": "XP is typically first diagnosed on the basis of clinical symptoms (see Signs & Symptoms) and many patients with XP do not have a past family history of the condition (see Causes).", "therapies": "Prevention"}
{"OrphaCode": "ORPHA:8", "name_zh": "47，XYY综合征", "Name": "47,XYY syndrome", "disease_name": "XYY Syndrome", "synonyms": "47, XYY syndrome", "disease-overview": "", "symptoms": "Characteristics of XYY syndrome are often subtle and do not necessarily suggest a serious chromosomal disorder. Thus, males with this condition are often undiagnosed or misdiagnosed. The most common physical difference is increased height, which usually becomes apparent after the age of five or six, and results in an average height of about 6 feet, 3 inches by adulthood. Some individuals with XYY also develop severe cystic acne during adolescence. Fertility and sexual development are normal. Besides the potential for increased height, most affected individuals typically have a normal physical appearance (phenotype).", "causes": "XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. Most cases of XYY syndrome are due to a cell division error in the sperm prior to conception. Rarely, the cell division error occurs after conception resulting in a mosiac of cells with 46 chromosomes and 47 chromosomes. The exact cause for why these errors in cell division occur is not understood.", "affected": "XYY syndrome is a rare chromosomal disorder present at birth that affects only males. It is estimated to occur in approximately one in 1,000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of XYY syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Klinefelter syndrome is associated with a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the classic form of the disorder have one extra X chromosome. Males with variant forms of Klinefelter syndrome have additional X and/or Y chromosomes. The extra X and/or Y chromosome can affect physical, developmental, behavioral, and cognitive functioning. Common physical features may include tall stature, lack of secondary pubertal development, small testes (hypogonadism), delayed pubertal development, and breast development (gynecomastia) in late puberty. These features may be associated with low testosterone level and elevated gonadotropin levels. (For more information on this disorder, choose Klinefelter as your search term in the Rare Disease Database.)", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:99829", "name_zh": "黄热病", "Name": "Yellow fever", "disease_name": "Yellow Fever", "synonyms": "Bunyavirus Infection", "disease-overview": "Yellow Fever is a viral infection that causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever, yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The disease is spread through bites of infected mosquitos. Incidence of the disease tends to increase in the summer as the mosquito population increases, and it occurs year round in tropical climates.", "symptoms": "The symptoms of Yellow Fever are the sudden onset of fever and chills along with headache, backache, generalized pain, nausea, vomiting, flushed face and infection of the inner eyelid.  The fever usually disappears after three days, reappearing several days later with new symptoms of jaundice, bleeding gums, soft palate hemorrhages, and the vomiting of blood (black vomit).  The patient may go into shock during this phase.", "causes": "Yellow Fever is caused by a virus spread by the bite by an infected mosquito. Initially, a mosquito acquires the disease by ingesting the blood of an infected host.  The mosquito then transmits the infection to its next bite victim.", "affected": "Yellow Fever affects males and females equally. People living in semitropical or tropical climates are at risk unless they are vaccinated against this infection. People in southern areas of the United States, living near marshes and swamps may be at risk during the summer months. However, most cases of Yellow Fever occur in Africa and South America.", "related-disorders": "Symptoms of the following disorders can be similar to those of Yellow Fever. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Dengue Fever is a disease also transmitted by a mosquito bite and characterized by a skin rash and a high fever with severe pain in the head and muscles.  There is a sudden onset of symptoms with pain also occuring in the lower back, legs and joints.  (For more information on this disorder, choose Dengue Fever as your search term in the Rare Disease Database.)", "therapies": "The treatment of Yellow Fever is symptomatic and supportive. Preventative measures consist of mosquito control and a vaccine that prevents development of the infection. Immunity from a vaccination usually develops after 10 days and lasts for more than 10 years. In some cases, side effects associated with vaccination may occur five to 10 days later. These side effects affect approximately 5 percent of individuals receiving immunization and may include headache, fever, and/or aching muscles."}
{"OrphaCode": "ORPHA:662", "name_zh": "黄指甲综合征", "Name": "Yellow nail syndrome", "disease_name": "Yellow Nail syndrome", "synonyms": "lymphedema with yellow nails", "disease-overview": "Yellow nail syndrome is an extremely rare disorder characterized by malformations affecting the fingernails and toenails, abnormalities affecting the lungs and the airways (respiratory tract) and swelling or puffiness in different parts of the body because of the accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin (lymphedema). Yellow nail syndrome usually affects older adults. The exact cause of yellow nail syndrome is not known. Occasionally, yellow nail syndrome has been reported to run in families suggesting that genetic factors may play a role in the development of the disorder in some patients.", "symptoms": "The characteristic finding associated with yellow nail syndrome is the development of yellow, thickened, and excessively curved nails with almost complete stoppage of nail growth. Loss of the strip of hardened skin at the base and sides of a fingernail (cuticles) may also occur. Separation of the nails from the nail bed (onycholysis) may cause the nails to fall out. Some individuals may develop infection of the soft tissue around edge of the nails (paronychia). Any nail (both toenails and fingernails) may be affected.", "causes": "The exact cause of yellow nail syndrome is not known. Most cases seem to occur randomly, for no apparent reason (sporadically). Some researchers believe that yellow nail syndrome is a sporadic, acquired condition. However, some sources in the medical literature currently classify yellow nail syndrome as a primary genetic disorder.", "affected": "Yellow nail syndrome affects males and females in equal numbers. More than 100 cases have been reported in the medical literature. Yellow nail syndrome usually occurs in older adults with most cases occurring in individuals over 50 years of age. Although uncommon, yellow nail syndrome can occur in children.", "related-disorders": "Symptoms of the following disorders can be similar to those of yellow nail syndrome. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A diagnosis of yellow nail syndrome is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. The nail changes in yellow nail syndrome are distinct from the nail changes that occur in most other lymphedema syndromes.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3472", "name_zh": "Yunis-Varon 综合征", "Name": "Yunis Varon Syndrome", "disease_name": "Yunis Varon Syndrome", "synonyms": "cleidocranial dysplasia with micrognathia", "disease-overview": "Yunis-Varon syndrome is a rare genetic multisystem disorder with defects affecting mostly the skeletal system, the nervous system, and ectodermal tissue (hair and teeth). It is characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfacial hypoplasia, tented upper lip and small jaw (micrognathia), sparse or absent eyebrows and/or eyelashes. Abnormalities of the fingers and toes may include absence (aplasia) or underdevelopment (hypoplasia) of the fingers and toes. Most infants with this disorder experience severe feeding problems and respiratory difficulties. Some of these difficulties are related to the severe involvement of the central nervous system, with malformations of the brain affecting half of the children and hypotonia (low tone) affecting all of them. In addition, affected infants may have heart defects (e.g., abnormal enlargement of the heart muscle [hypertrophic cardiomyopathy]). Frequently, feeding problems, respiratory difficulties, and/or heart defects may result in life-threatening complications during infancy. Yunis-Varon syndrome is inherited as an autosomal recessive condition.", "symptoms": "Yunis-Varon syndrome is a rare genetic multisystem disorder characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfacial hypoplasia, tented upper lip and small jaw (micrognathia), sparse or absent eyebrows and/or eyelashes.", "causes": "Yunis-Varon syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits a changed gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.", "affected": "Yunis-Varon syndrome is an extremely rare inherited disorder that affects males and females in equal numbers. 25 cases from 19 families have been reported since the disorder’s initial description in the medical literature in 1980.", "related-disorders": "Symptoms of the following disorders can be similar to those of Yunis-Varon syndrome. Comparisons may be useful for a differential diagnosis:", "diagnosis": "Yunis-Varon syndrome may be diagnosed or confirmed after birth based upon a thorough clinical evaluation, the identification of characteristic findings (e.g., hypoplastic claviculae, limb abnormalities, sparse hair, characteristic facial features). Genetic testing for mutations in FIG4 can also confirm a diagnosis. Certain findings that may suggest a diagnosis of Yunis-Varon syndrome (e.g. limb and bone abnormalities or congenital heart defect) may be identified before birth (prenatally) using ultrasonography. In fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:3454", "name_zh": "智力障碍-发育迟缓-挛缩综合征", "Name": "Intellectual disability-developmental delay-contractures syndrome", "disease_name": "ZC4H2-Associated Rare Disorders (ZARD)", "synonyms": "Wieacker-Wolff syndrome", "disease-overview": "", "symptoms": "Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include:", "causes": "ZARD is caused by harmful changes of the X chromosome linked ZC4H2 gene. Males and females can be affected. ZC4H2 gene variants can be inherited or occur spontaneously, meaning there is no family history of the disorder (de novo). 1", "affected": "Harmful ZC4H2 gene variants have been identified in many ethnic groups, with both males and females being affected who present with a broad spectrum of severity.", "related-disorders": "There are several genetic diseases that may be characterized by similar or overlapping symptoms to those that may occur with ZARD with varying clinical severity, including arthrogryposis multiplex congenita, hand and feet deformities such as talipes equinovarus and/or camptodactyly.", "diagnosis": "A diagnosis of ZARD may be considered based upon a thorough clinical evaluation, a detailed patient and family history and the identification of characteristic findings. Molecular genetic testing for ZC4H2 gene variants (gene sequencing, panel next generation sequencing and microarray analysis) is available to confirm the diagnosis.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:912", "name_zh": "Zellweger综合征", "Name": "Zellweger Spectrum Disorders", "disease_name": "Zellweger Spectrum Disorders", "synonyms": "peroxisomal biogenesis disorders", "disease-overview": "", "symptoms": "The symptoms of ZSD vary greatly from one individual to another. The specific number and severity of symptoms present in an individual are highly variable and affected individuals will not have all of the symptoms discussed below. The most severe forms are usually noticeable shortly after birth. Severely affected infants often have distinct craniofacial features, neurological deficits, progressive dysfunction of the liver and kidneys and usually develop life-threatening complications during the first year of life.", "causes": "ZSD develop due to changes (mutations) of one of 13 different genes involved in the creation and proper function of peroxisomes (peroxisome biogenesis). These 13 genes contain instructions for creating (encoding) proteins known as peroxins that are essential for the proper development of peroxisomes. Approximately 61% of individuals with a ZSD have a mutation in the peroxisome biogenesis factor 1 (PEX1) gene. The other genes that cause ZSD are PEX2, PEX3, PEX5, PEX6, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26.", "affected": "Determining the true incidence of ZSD in the general population can be difficult. ZSD are usually diagnosed at birth, although some cases can be diagnosed later in life. ZSD affect individuals of all ethnic groups. In the United States, the estimated incidence of these disorders is somewhere in between 1 in 50,000 and 1 in 75,000 live births.", "related-disorders": "Symptoms of the following disorders can be similar to those of Zellweger spectrum disorders. Comparisons may be useful for a differential diagnosis.", "diagnosis": "A ZSD diagnosis is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. ZSD can be diagnosed by showing peroxisome abnormalities that can be monitored in body fluids. The primary step in ZSD diagnosis involves the detection of elevated very long chain fatty acids. Additional tests on blood and urine samples to detect other substances associated with peroxisome metabolism may be performed. Biochemical testing of skin fibroblasts is useful to confirm the abnormalities seen in the blood and urine and clarify questionable results in body fluids.", "therapies": "Treatment"}
{"OrphaCode": "ORPHA:913", "name_zh": "Zollinger-Ellison 综合征", "Name": "Zollinger-Ellison syndrome", "disease_name": "Zollinger-Ellison Syndrome", "synonyms": "gastrinoma", "disease-overview": "Zollinger-Ellison syndrome (ZES) is characterized by the development of a tumor (gastrinoma) or tumors that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. Many affected individuals develop multiple gastrinomas, which are thought to have the potential to be cancerous (malignant). In most patients, the tumors arise within the pancreas and/or the upper region of the small intestine (duodenum). Due to excessive acid production (gastric acid hypersecretion), individuals with ZES may develop peptic ulcers of the stomach, the duodenum, and/or other regions of the digestive tract. Peptic ulcers are sores or raw areas within the digestive tract where the lining has been eroded by stomach acid and digestive juices. Symptoms and findings associated with ZES may include mild to severe abdominal pain; diarrhea; increased amounts of fat in the stools (steatorrhea); and/or other abnormalities. In most affected individuals, ZES appears to develop randomly (sporadically) for unknown reasons. In approximately 25 percent of patients, ZES occurs in association with a genetic syndrome known as multiple endocrine neoplasia type 1 (MEN-1). All of the tumors are considered to have malignant potential. Prognosis is related to tumor size and the presence of distant metastases.", "symptoms": "ZES is characterized by abnormally increased acid production (gastric hypersecretion), excessively high levels of gastrin in the blood (hypergastrinemia), and ulceration of the stomach or the upper region of the small intestine (duodenum) due to gastrin-producing tumors (gastrinomas). In most patients, gastrinomas arise within the wall of the duodenum or within the pancreas. The pancreas is a gland that functions as part of the digestive and endocrine systems. Certain pancreatic cells (exocrine cells) secrete digestive juice into ducts, while clusters of other pancreatic cells (pancreatic endocrine cells known as islet cells) secrete certain hormones directly into the bloodstream.", "causes": "In most individuals with ZES, the condition appears to occur spontaneously for unknown reasons (sporadically). However, in approximately 25 percent of affected individuals, ZES occurs in association with the genetic syndrome known as multiple endocrine neoplasia type 1 (MEN-1). In most patients, MEN-1 is inherited as an autosomal dominant genetic condition.", "affected": "ZES may become apparent at any age. However, symptom onset usually occurs between ages 30 and 60 years. The exact frequency of ZES in the general population is unknown. However, some researchers estimate that ZES represents less than one percent of peptic ulcers.", "related-disorders": "As discussed above, Zollinger-Ellison syndrome may occur as a component of the following disorder:", "diagnosis": "The diagnosis of ZES is based upon a thorough clinical evaluation, a detailed patient history, and specialized tests, including certain laboratory studies and advanced imaging techniques. ZES may be suggested by various factors, including the development of frequent or multiple peptic ulcers that are resistant to certain standard ulcer treatments and/or that occur in unusual sites (e.g., the jejunum).", "therapies": "Surgical Therapy"}