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What are the symptoms of Acrokeratoelastoidosis of Costa ? | What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Hemophilia B ? | Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from ble... | |
What are the symptoms of Hemophilia B ? | What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | |
What is (are) Early Infantile Epileptic Encephalopathy ? | Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally ... | |
What is (are) Primary hyperoxaluria type 2 ? | Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can le... | |
What are the symptoms of Primary hyperoxaluria type 2 ? | What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ES... | |
What causes Primary hyperoxaluria type 2 ? | What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent ... | |
Is Primary hyperoxaluria type 2 inherited ? | How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do n... | |
What are the treatments for Primary hyperoxaluria type 2 ? | How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following... | |
What are the symptoms of Raine syndrome ? | What are the signs and symptoms of Raine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Raine syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | |
What is (are) Hydranencephaly ? | Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydro... | |
What are the treatments for Hydranencephaly ? | How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the bra... | |
What is (are) Castleman disease ? | Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multipl... | |
What causes Castleman disease ? | What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph no... | |
Is Castleman disease inherited ? | Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. | |
What are the symptoms of Caudal appendage deafness ? | What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
What is (are) Hemophagocytic lymphohistiocytosis ? | Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood... | |
What are the symptoms of Hemophagocytic lymphohistiocytosis ? | What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of t... | |
What causes Hemophagocytic lymphohistiocytosis ? | What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulat... | |
Is Hemophagocytic lymphohistiocytosis inherited ? | Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene i... | |
How to diagnose Hemophagocytic lymphohistiocytosis ? | Is genetic testing available for hemophagocytic lymphohistiocytosis? Yes. Clinical genetic testing is available for the four genes known to cause familial hemophagocytic lymphohistiocytosis, types 2-5. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the fa... | |
What are the treatments for Hemophagocytic lymphohistiocytosis ? | How might hemophagocytic lymphohistiocytosis be treated? The best treatment options for hemophagocytic lymphohistiocytosis (HLH) are determined by a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition. In acquired HLH, it is often necessary to treat the und... | |
What are the symptoms of Grubben de Cock Borghgraef syndrome ? | What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Congenital hypothyroidism ? | Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs wh... | |
What are the symptoms of Congenital hypothyroidism ? | What are the signs and symptoms of Congenital hypothyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital hypothyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | |
What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ? | What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 2. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What are the symptoms of Welander distal myopathy, Swedish type ? | What are the signs and symptoms of Welander distal myopathy, Swedish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Welander distal myopathy, Swedish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Pseudoprogeria syndrome ? | What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Brown-Sequard syndrome ? | Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trau... | |
What are the treatments for Brown-Sequard syndrome ? | How might Brown-Sequard syndrome be treated? | |
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ? | What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. If the information is available, the table below includes how ofte... | |
What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variabl... | |
What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. If the information is available, the table below i... | |
What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treate... | |
What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ? | How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary ... | |
What are the symptoms of Histidinuria renal tubular defect ? | What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Deafness enamel hypoplasia nail defects ? | What are the signs and symptoms of Deafness enamel hypoplasia nail defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness enamel hypoplasia nail defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Scheie syndrome ? | What are the signs and symptoms of Scheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for Scheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | |
What is (are) Esthesioneuroblastoma ? | Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, acc... | |
What are the symptoms of Esthesioneuroblastoma ? | What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache Visual changes | |
What causes Esthesioneuroblastoma ? | What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. | |
How to diagnose Esthesioneuroblastoma ? | How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. | |
What are the treatments for Esthesioneuroblastoma ? | How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with s... | |
What is (are) Pediatric Crohn's disease ? | Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, ... | |
What is (are) Bartter syndrome ? | Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and g... | |
What are the symptoms of Bartter syndrome ? | What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends ... | |
What causes Bartter syndrome ? | What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while ty... | |
Is Bartter syndrome inherited ? | How is Bartter syndrome inherited? Bartter syndrome is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual. Parents who each carry one mutated copy of the gene are referred to as carriers and typi... | |
How to diagnose Bartter syndrome ? | How is Bartter syndrome diagnosed? Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride level... | |
What are the treatments for Bartter syndrome ? | How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassi... | |
What are the symptoms of High molecular weight kininogen deficiency ? | What are the signs and symptoms of High molecular weight kininogen deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for High molecular weight kininogen deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What are the symptoms of Dystonia 6, torsion ? | What are the signs and symptoms of Dystonia 6, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 6, torsion. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | |
What are the symptoms of Atelosteogenesis type 1 ? | What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | |
What is (are) Norrie disease ? | Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormali... | |
What are the symptoms of Norrie disease ? | What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | |
What causes Norrie disease ? | What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop. In particular, the n... | |
What are the treatments for Norrie disease ? | How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after s... | |
What is (are) Syringoma ? | Syringomas are firm yellowish, translucent, or skin colored papules that are often found on the face, particularly around the eyes. They may occur suddenly in crops or multiples. They arise from the sweat ducts. They usually cause no symptoms. They are not associated with underlying abnormality. They are found more com... | |
What are the symptoms of Syringoma ? | What are the signs and symptoms of Syringoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Syringoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the... | |
What are the treatments for Syringoma ? | How are syringomas treated? People with syringomas have a variety of treatment options, for example pulsed ablative laser (CO2 or erbium) or light electrocoagulation using a fine epilating needle. To learn more about these and other syringoma treatment options we recommend speaking with your healthcare provider. | |
What are the symptoms of Myeloperoxidase deficiency ? | What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | |
What is (are) Neonatal progeroid syndrome ? | Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affect... | |
What are the symptoms of Neonatal progeroid syndrome ? | What are the signs and symptoms of Neonatal progeroid syndrome? The signs and symptoms of neonatal progeroid syndrome vary but may include: Subcutaneous lipoatrophy (deficiency or absence of the fat layer beneath the skin) which gives infants an aged appearance at birth Intrauterine growth restriction Failure to thrive... | |
What causes Neonatal progeroid syndrome ? | What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified. | |
Is Neonatal progeroid syndrome inherited ? | Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The ... | |
How to diagnose Neonatal progeroid syndrome ? | How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth. | |
What are the treatments for Neonatal progeroid syndrome ? | How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding ... | |
What is (are) Synovial Chondromatosis ? | Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of r... | |
What causes Synovial Chondromatosis ? | What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not ... | |
What are the symptoms of Immunodeficiency with hyper IgM type 2 ? | What are the signs and symptoms of Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Arginase deficiency ? | Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia i... | |
What are the symptoms of Arginase deficiency ? | What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... | |
What are the treatments for Arginase deficiency ? | How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrog... | |
What is (are) Cryptogenic organizing pneumonia ? | Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often a... | |
What are the symptoms of Cryptogenic organizing pneumonia ? | What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare) | |
What causes Cryptogenic organizing pneumonia ? | What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the ... | |
Is Cryptogenic organizing pneumonia inherited ? | Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP. | |
How to diagnose Cryptogenic organizing pneumonia ? | How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Addi... | |
What are the treatments for Cryptogenic organizing pneumonia ? | How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP ha... | |
What are the symptoms of Hypochromic microcytic anemia with iron overload ? | What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. If the information is available, the table below includes how often the symptom is seen in people with... | |
What is (are) Afibrinogenemia ? | Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleed... | |
What are the symptoms of Afibrinogenemia ? | What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds... | |
What causes Afibrinogenemia ? | What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (F... | |
Is Afibrinogenemia inherited ? | Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a dise... | |
What are the treatments for Afibrinogenemia ? | How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a ve... | |
What is (are) WaterhouseFriderichsen syndrome ? | WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although a... | |
What are the symptoms of WaterhouseFriderichsen syndrome ? | What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patient... | |
What causes WaterhouseFriderichsen syndrome ? | What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrh... | |
What are the treatments for WaterhouseFriderichsen syndrome ? | How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids. Other treatment is symptomatic and supportive. | |
What are the symptoms of Infantile axonal neuropathy ? | What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Dystonia 18 ? | What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... | |
What are the symptoms of Partial atrioventricular canal ? | What are the signs and symptoms of Partial atrioventricular canal? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial atrioventricular canal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ? | What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. If the information is available, the table below i... | |
What are the symptoms of Lethal chondrodysplasia Moerman type ? | What are the signs and symptoms of Lethal chondrodysplasia Moerman type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal chondrodysplasia Moerman type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Microgastria limb reduction defect ? | Microgastria limb reduction defect is a rare disorder with less than 60 previously reported cases. Children born with this condition have a small stomach (microgastria) and limb abnormalities. Symptoms may include vomiting, aspiration pneumonia and growth problems. Abnormalities involving the heart, lungs, kidney and g... | |
What are the symptoms of Microgastria limb reduction defect ? | What are the signs and symptoms of Microgastria limb reduction defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Microgastria limb reduction defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness... | |
What are the treatments for Notalgia paresthetica ? | How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitter... | |
What are the symptoms of Brachydactyly type A1 ? | What are the signs and symptoms of Brachydactyly type A1? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | |
What is (are) Good syndrome ? | Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. ... |
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