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causes | What causes Iridocorneal endothelial syndrome ? | What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. |
information | What is (are) Color Blindness ? | Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities. |
information | What is (are) Spinal Cord Infarction ? | Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence. |
frequency | How many people are affected by myostatin-related muscle hypertrophy ? | The prevalence of this condition is unknown. |
symptoms | What are the symptoms of Leber congenital amaurosis 16 ? | What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Strabismus 5% Autosomal recessive inheritance - Cataract - Nyctalopia - Nystagmus - Reduced visual acuity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is hepatic veno-occlusive disease with immunodeficiency inherited ? | This condition 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 not show signs and symptoms of the condition. |
frequency | How many people are affected by dyserythropoietic anemia and thrombocytopenia ? | Dyserythropoietic anemia and thrombocytopenia is a rare condition; its prevalence is unknown. Occasionally, individuals with this disorder are mistakenly diagnosed as having more common blood disorders, making it even more difficult to determine how many people have dyserythropoietic anemia and thrombocytopenia. |
symptoms | What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ? | What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for succinate-CoA ligase deficiency ? | These resources address the diagnosis or management of succinate-CoA ligase deficiency: - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) - MedlinePlus Encyclopedia: Hypotonia - MedlinePlus Encyclopedia: Lactic Acidosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
symptoms | What are the symptoms of Pontocerebellar hypoplasia type 1 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 1? Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation. The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral cortical atrophy 90% Hypertonia 90% Limitation of joint mobility 90% Microcephaly 90% Seizures 90% Deviation of finger 50% Abnormality of the foot - Ataxia - Autosomal recessive inheritance - Basal ganglia gliosis - Cerebellar hypoplasia - Congenital contracture - Congenital onset - Degeneration of anterior horn cells - EMG: neuropathic changes - Fasciculations - Feeding difficulties in infancy - Hyperreflexia - Hypoplasia of the pons - Hypoplasia of the ventral pons - Intellectual disability - Muscle weakness - Muscular hypotonia - Neuronal loss in basal ganglia - Progressive - Respiratory insufficiency - Spinal muscular atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Usher syndrome, type 2C ? | What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Lipase deficiency combined ? | What are the signs and symptoms of Lipase deficiency combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipase deficiency combined. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
genetic changes | What are the genetic changes related to Russell-Silver syndrome ? | The genetic causes of Russell-Silver syndrome are complex. The disorder often results from the abnormal regulation of certain genes that control growth. Research has focused on genes located in particular regions of chromosome 7 and chromosome 11. People normally inherit one copy of each chromosome from their mother and one copy from their father. For most genes, both copies are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternal copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Both chromosome 7 and chromosome 11 contain groups of genes that normally undergo genomic imprinting. Abnormalities involving these genes appear to be responsible for many cases of Russell-Silver syndrome. Researchers suspect that at least one third of all cases of Russell-Silver syndrome result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Russell-Silver syndrome has been associated with changes in methylation involving the H19 and IGF2 genes, which are located near one another on chromosome 11. These genes are thought to be involved in directing normal growth. A loss of methylation disrupts the regulation of these genes, which leads to slow growth and the other characteristic features of this disorder. Abnormalities involving genes on chromosome 7 also cause Russell-Silver syndrome. In 7 percent to 10 percent of cases, people inherit both copies of chromosome 7 from their mother instead of one copy from each parent. This phenomenon is called maternal uniparental disomy (UPD). Maternal UPD causes people to have two active copies of maternally expressed imprinted genes rather than one active copy from the mother and one inactive copy from the father. These individuals do not have a paternal copy of chromosome 7 and therefore do not have any copies of genes that are active only on the paternal copy. In cases of Russell-Silver syndrome caused by maternal UPD, an imbalance in active paternal and maternal genes on chromosome 7 underlies the signs and symptoms of the disorder. In at least 40 percent of people with Russell-Silver syndrome, the cause of the condition is unknown. It is possible that changes in chromosomes other than 7 and 11 may play a role. Researchers are working to identify additional genetic changes that underlie this disorder. |
symptoms | What are the symptoms of Multiple familial trichoepithelioma ? | What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transform into a type of skin cancer called basal cell carcinoma. Occasionally, other types of tumors, including growths called spiradenomas (which originate in sweat glands) and cylindromas (which likely originate in hair follicles) also develop. Affected individuals are also at-risk to develop tumors in other tissues, particularly benign tumors of the salivary glands. The tumors in multiple familial trichoepithelioma typically first appear during childhood or adolescence, and appear most often around the nose, forehead, upper lip, and occasionally scalp, neck, and upper trunk. They may grow larger and increase in number over time. In rare cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision or hearing. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that remain unknown, females are often more severely affected than males. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple familial trichoepithelioma. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the skin 90% Telangiectasia of the skin 50% Basal cell carcinoma 5% Adult onset - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Laron syndrome ? | How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems. |
causes | What causes Perineal Injury in Males ? | Chronic perineal injury most often results from a job-or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation.
Bike Riding
Sitting on a narrow, saddle-style bike seatwhich has a protruding nose in the frontplaces far more pressure on the perineum than sitting in a regular chair. In a regular chair, the flesh and bone of the buttocks partially absorb the pressure of sitting, and the pressure occurs farther toward the back than on a bike seat. The straddling position on a narrow seat pinches the perineal blood vessels and nerves, possibly causing blood vessel and nerve damage over time. Research shows wider, noseless seats reduce perineal pressure.1
Occasional bike riding for short periods of time may pose no risk. However, men who ride bikes several hours a weeksuch as competitive bicyclists, bicycle couriers, and bicycle patrol officershave a significantly higher risk of developing mild to severe ED.2 The ED may be caused by repetitive pressure on blood vessels, which constricts them and results in plaque buildup in the vessels.
Other activities that involve riding saddle-style include motorcycle and horseback riding. Researchers have studied bike riding more extensively than these other activities; however, the few studies published regarding motorcycle and horseback riding suggest motorcycle riding increases the risk of ED and urinary symptoms.3 Horseback riding appears relatively safe in terms of chronic injury,4 although the action of bouncing up and down, repeatedly striking the perineum, has the potential for causing damage.
Constipation
Constipation is defined as having a bowel movement fewer than three times per week. People with constipation usually have hard, dry stools that are small in size and difficult to pass. Some people with constipation need to strain to pass stools. This straining creates internal pressure that squeezes the perineum and can damage the perineal blood vessels and nerves. More information is provided in the NIDDK health topic, Constipation. |
exams and tests | How to diagnose Mantle cell lymphoma ? | How is Mantle cell lymphoma diagnosed? Mantle cell lymphoma is diagnosed by a biopsy (surgical removal) of the lymph nodes. If lymph nodes are not easily accessible to be biopsied, a fine needle aspiration may be performed, but the diagnosis will not be definite. Chromosome translocations in Mantle cell lymphoma can be found by genetic molecular testing methods such as PCR and FISH. |
inheritance | Is Andersen-Tawil syndrome inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cases occur in people with no history of the disorder in their family. |
information | What is (are) mevalonate kinase deficiency ? | Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy. People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy. |
treatment | What are the treatments for Fabry disease ? | These resources address the diagnosis or management of Fabry disease: - Baby's First Test - Gene Review: Gene Review: Fabry Disease - Genetic Testing Registry: Fabry disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Machado-Joseph Disease ? | Lyme disease is treated with antibiotics under the supervision of a physician. |
frequency | How many people are affected by optic atrophy type 1 ? | Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people. |
causes | What causes Dry Mouth ? | Some diseases affect the salivary glands. Sjgren's syndrome and diabetes can cause dry mouth. Injury to the head or neck can damage the nerves that tell salivary glands to make saliva. |
susceptibility | Who is at risk for Melanoma? ? | Unusual moles, exposure to sunlight, and health history can affect the risk of melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for melanoma include the following: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Being exposed to certain factors in the environment (in the air, your home or workplace, and your food and water). Some of the environmental risk factors for melanoma are radiation, solvents, vinyl chloride, and PCBs. - Having a history of many blistering sunburns, especially as a child or teenager. - Having several large or many small moles. - Having a family history of unusual moles (atypical nevus syndrome). - Having a family or personal history of melanoma. - Being white. - Having a weakened immune system. - Having certain changes in the genes that are linked to melanoma. Being white or having a fair complexion increases the risk of melanoma, but anyone can have melanoma, including people with dark skin. See the following PDQ summaries for more information on risk factors for melanoma: - Genetics of Skin Cancer - Skin Cancer Prevention |
information | What is (are) Fatal familial insomnia ? | Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system. Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible. |
genetic changes | What are the genetic changes related to Charcot-Marie-Tooth disease ? | Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles and to transmit sensory signals to the brain. The list of genes associated with Charcot-Marie-Tooth disease continues to grow as researchers study this disorder. Different mutations within a particular gene may cause signs and symptoms of differing severities or lead to different types of Charcot-Marie-Tooth disease. CMT1 is caused by mutations in the following genes: PMP22 (CMT1A and CMT1E), MPZ (CMT1B), LITAF (CMT1C), EGR2 (CMT1D), and NEFL (CMT1F). CMT2 can result from alterations in many genes, including MFN2 and KIF1B (CMT2A); RAB7A (CMT2B); LMNA (CMT2B1); TRPV4 (CMT2C); BSCL2 and GARS (CMT2D); NEFL (CMT2E); HSPB1 (CMT2F); MPZ (CMT2I and CMT2J); GDAP1 (CMT2K); and HSPB8 (CMT2L). Certain DNM2 gene mutations also cause a form of CMT2. CMT4 is caused by mutations in the following genes: GDAP1 (CMT4A), MTMR2 (CMT4B1), SBF2 (CMT4B2), SH3TC2 (CMT4C), NDRG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FGD4 (CMT4H), and FIG4 (CMT4J). Intermediate forms of the disorder can be caused by alterations in genes including DNM2, MPZ, YARS, and GDAP1. CMTX is caused by mutations in genes including GJB1 (CMTX1) and PRPS1 (CMTX5). Mutations in additional genes, some of which have not been identified, also cause various forms of Charcot-Marie-Tooth disease. |
inheritance | Is Niemann-Pick disease inherited ? | This condition 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 not show signs and symptoms of the condition. |
information | What is (are) Hyperparathyroidism-jaw tumor syndrome ? | Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion. |
symptoms | What are the symptoms of Multicentric osteolysis nephropathy ? | What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Decreased body weight 90% EMG abnormality 90% Gait disturbance 90% Limitation of joint mobility 90% Proptosis 90% Proteinuria 90% Skeletal muscle atrophy 90% Slender long bone 90% Triangular face 90% Camptodactyly of finger 50% Nephropathy 50% Abnormality of epiphysis morphology 7.5% Downturned corners of mouth 7.5% Polyhydramnios 7.5% Telecanthus 7.5% Wide nasal bridge 7.5% Ankle swelling - Arthralgia - Autosomal dominant inheritance - Carpal osteolysis - Hypertension - Hypoplasia of the maxilla - Metacarpal osteolysis - Metatarsal osteolysis - Osteolysis involving tarsal bones - Osteopenia - Pes cavus - Renal insufficiency - Ulnar deviation of the hand or of fingers of the hand - Wrist swelling - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Limb-girdle muscular dystrophy, type 2C ? | What are the signs and symptoms of Limb-girdle muscular dystrophy, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Palmer Pagon syndrome ? | What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of the thorax 90% Abnormality of the urinary system 90% Communicating hydrocephalus 90% Epicanthus 90% Hernia of the abdominal wall 90% Anomalous pulmonary venous return 50% Patent ductus arteriosus 50% Tetralogy of Fallot 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Sclerosing mesenteritis ? | What are the signs and symptoms of sclerosing mesenteritis? Common symptoms of sclerosing mesenteritis include abdominal pain or a palpable abdominal mass, weight loss, abdominal distention, vomiting, diarrhea, constipation, and fever of unknown cause. |
information | What is (are) Acute zonal occult outer retinopathy ? | Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include "whitening of vision" or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. |
symptoms | What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ? | What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Cornelia de Lange syndrome ? | These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) High Blood Cholesterol ? | A lipoprotein profile will also show the level of triglycerides in your blood. A desirable level is less than 150mg/dL. If the triglycerides in your blood are borderline high (150-199 mg/dL), or high (200 mg/dL or more), you may need treatment. |
information | What is (are) autosomal recessive spastic ataxia of Charlevoix-Saguenay ? | Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), difficulty coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye movements (nystagmus), and speech difficulties (dysarthria). Other problems may include deformities of the fingers and feet, reduced sensation and weakness in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in the light-sensitive tissue at the back of the eye (hypermyelination of the retina), and less commonly, leaks in one of the valves that control blood flow through the heart (mitral valve prolapse). An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity and ataxia of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties. This condition was first seen in people of the Charlevoix-Saguenay region of Quebec, Canada. The majority of people with ARSACS live in Quebec or have recent ancestors from Quebec. People with ARSACS have also been identified in Japan, Turkey, Tunisia, Spain, Italy, and Belgium. The signs and symptoms of ARSACS seen in other countries differ from those in Quebec. In people with ARSACS outside of Quebec, hypermyelination of the retina is seen less often, intelligence may be below normal, and symptoms tend to appear at a later age. |
frequency | How many people are affected by molybdenum cofactor deficiency ? | Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher. |
information | What is (are) X-linked lissencephaly with abnormal genitalia ? | X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood. Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation. |
treatment | What are the treatments for Danon disease ? | How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient. |
symptoms | What are the symptoms of Sonoda syndrome ? | What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of the oral cavity 90% Anteverted nares 90% Depressed nasal ridge 90% Generalized hyperpigmentation 90% Hypopigmentation of hair 90% Narrow mouth 90% Round face 90% Short nose 90% Short stature 90% Displacement of the external urethral meatus 50% Autosomal recessive inheritance - Depressed nasal bridge - High axial triradius - Intellectual disability - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
inheritance | Is GRACILE syndrome inherited ? | This condition 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 not show signs and symptoms of the condition. |
causes | What causes Gas in the Digestive Tract ? | Most foods that contain carbohydrates can cause gas. In contrast, fats and proteins cause little gas. Foods that produce gas in one person may not cause gas in someone else, depending on how well individuals digest carbohydrates and the type of bacteria present in the intestines.
Some foods that may cause gas include
- beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high-fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, a sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol |
information | What is (are) Wilson Disease ? | The liver is the bodys largest internal organ. The liver is called the bodys metabolic factory because of the important role it plays in metabolismthe way cells change food into energy after food is digested and absorbed into the blood. The liver has many important functions, including
- taking up, storing, and processing nutrients from foodincluding fat, sugar, and proteinand delivering them to the rest of the body when needed. - making new proteins, such as clotting factors and immune factors. - producing bile. In addition to carrying toxins and waste products out of the body, bile helps the body digest fats and the fat-soluble vitamins A, D, E, and K. - removing waste products the kidneys cannot remove, such as fats, cholesterol, toxins, and medications.
A healthy liver is necessary for survival. The liver can regenerate most of its own cells when they become damaged. However, if injury to the liver is too severe or long lasting, regeneration is incomplete and the liver creates scar tissue. |
information | What is (are) Familial hypercholesterolemia ? | Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. |
frequency | How many people are affected by pyridoxine-dependent epilepsy ? | Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 individuals. At least 100 cases have been reported worldwide. |
causes | What causes Sjogren syndrome ? | What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. Simply having one of these genes does not cause a person to develop the disease; some sort of trigger is also needed. That trigger may be a viral or bacterial infection. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed. The possibility that the endocrine and nervous systems may play a role in the disease is also under investigation. |
symptoms | What are the symptoms of Reducing body myopathy ? | What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by X-linked myotubular myopathy ? | The incidence of X-linked myotubular myopathy is estimated to be 1 in 50,000 newborn males worldwide. |
causes | What causes Tietze syndrome ? | What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition. |
information | What is (are) Citrullinemia type I ? | Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern. |
inheritance | Is Lesch-Nyhan syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
causes | What causes Multiple pterygium syndrome Escobar type ? | What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion. |
symptoms | What are the symptoms of Say-Field-Coldwell syndrome ? | What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Cognitive impairment 90% Preaxial hand polydactyly 90% Short stature 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Recurrent patellar dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Atrial Fibrillation ? | An arrhythmia is a problem with the speed or rhythm of the heartbeat. Atrial fibrillation (AF) is the most common type of arrhythmia. The cause is a disorder in the heart's electrical system. Often, people who have AF may not even feel symptoms. But you may feel - Palpitations -- an abnormal rapid heartbeat - Shortness of breath - Weakness or difficulty exercising - Chest pain - Dizziness or fainting - Fatigue - Confusion AF can lead to an increased risk of stroke. In many patients, it can also cause chest pain, heart attack, or heart failure. Doctors diagnose AF using family and medical history, a physical exam, and a test called an electrocardiogram (EKG), which looks at the electrical waves your heart makes. Treatments include medicines and procedures to restore normal rhythm. NIH: National Heart, Lung, and Blood Institute |
genetic changes | What are the genetic changes related to histidinemia ? | Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver and the skin. HAL gene mutations lead to the production of a histidase enzyme that cannot break down histidine, which results in elevated levels of histidine in the blood and urine. These increased levels of histidine do not appear to have any negative effects on the body. |
symptoms | What are the symptoms of Autoimmune Hepatitis ? | The most common symptoms of autoimmune hepatitis are
- fatigue - joint pain - nausea - loss of appetite - pain or discomfort over the liver - skin rashes - dark yellow urine - light-colored stools - jaundice, or yellowing of the skin and whites of the eyes
Symptoms of autoimmune hepatitis range from mild to severe. Some people may feel as if they have a mild case of the flu. Others may have no symptoms when a health care provider diagnoses the disease; however, they can develop symptoms later. |
inheritance | Is campomelic dysplasia inherited ? | Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals inherit a chromosome abnormality from a parent who may or may not show mild signs and symptoms of campomelic dysplasia. |
information | What is (are) Bronchiolitis obliterans organizing pneumonia ? | Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. |
complications | What are the complications of Peyronie's Disease ? | Complications of Peyronies disease may include
- the inability to have sexual intercourse - ED - anxiety, or stress, about sexual abilities or the appearance of the penis - stress on a relationship with a sexual partner - problems fathering a child because intercourse is difficult |
exams and tests | How to diagnose Primary Sclerosing Cholangitis ? | Blood tests to check levels of liver enzymes are the first step in diagnosing PSC. Doctors confirm the diagnosis using cholangiography, which provides pictures of the bile ducts.
Cholangiography can be performed in the following ways:
- Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an endoscopea long, flexible, lighted tubethat goes down the mouth, beyond the stomach, and into the duodenum to reach an area in the digestive tract where dye can be injected into the bile ducts. X rays are taken when the dye is injected. ERCP also can be used to take a tissue sample or to treat blocked ducts. More information about ERCP is provided in the NIDDK health topic, ERCP (Endoscopic Retrograde Cholangiopancreatography). - Percutaneous transhepatic cholangiography. This procedure involves inserting a needle through the skin and placing a thin tube into a duct in the liver. Dye is injected through the tube and x rays are taken. - Magnetic resonance cholangiopancreatography (MRCP). MRCP uses magnetic resonance imaging (MRI) to obtain pictures of the bile ducts. MRI machines use radio waves and magnets to scan internal organs and tissues. MRCP does not involve using x rays or inserting instruments into the body. This safe and painless test is increasingly used for diagnosis.
Other testing may include ultrasound exams and a liver biopsy. Ultrasound uses sound waves to create images of organs inside the body. A biopsy involves removal of a small piece of tissue for examination with a microscope. |
frequency | How many people are affected by Ellis-van Creveld syndrome ? | In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania, and in the indigenous (native) population of Western Australia. |
susceptibility | Who is at risk for Gallstones? ? | Certain people have a higher risk of developing gallstones than others:2
- Women are more likely to develop gallstones than men. Extra estrogen can increase cholesterol levels in bile and decrease gallbladder contractions, which may cause gallstones to form. Women may have extra estrogen due to pregnancy, hormone replacement therapy, or birth control pills. - People over age 40 are more likely to develop gallstones than younger people. - People with a family history of gallstones have a higher risk. - American Indians have genetic factors that increase the amount of cholesterol in their bile. In fact, American Indians have the highest rate of gallstones in the United Statesalmost 65 percent of women and 30 percent of men have gallstones. - Mexican Americans are at higher risk of developing gallstones.
Other factors that affect a persons risk of gallstones include2
- Obesity. People who are obese, especially women, have increased risk of developing gallstones. Obesity increases the amount of cholesterol in bile, which can cause stone formation. - Rapid weight loss. As the body breaks down fat during prolonged fasting and rapid weight loss, the liver secretes extra cholesterol into bile. Rapid weight loss can also prevent the gallbladder from emptying properly. Low-calorie diets and bariatric surgerysurgery that limits the amount of food a person can eat or digestlead to rapid weight loss and increased risk of gallstones. - Diet. Research suggests diets high in calories and refi ned carbohydrates and low in fi ber increase the risk of gallstones. Refi ned carbohydrates are grains processed to remove bran and germ, which contain nutrients and fiber. Examples of refi ned carbohydrates include white bread and white rice. - Certain intestinal diseases. Diseases that affect normal absorption of nutrients, such as Crohns disease, are associated with gallstones. - Metabolic syndrome, diabetes, and insulin resistance. These conditions increase the risk of gallstones. Metabolic syndrome also increases the risk of gallstone complications. Metabolic syndrome is a group of traits and medical conditions linked to being overweight or obese that puts people at risk for heart disease and type 2 diabetes.
More information about these conditions is provided in the NIDDK health topic, Insulin Resistance and Prediabetes.
- cirrhosisa condition in which the liver slowly deteriorates and malfunctions due to chronic, or long lasting, injury - infections in the bile ducts - severe hemolytic anemiasconditions in which red blood cells are continuously broken down, such as sickle cell anemia |
treatment | What are the treatments for Diabetes, Heart Disease, and Stroke ? | Treatment for heart disease includes meal planning to ensure a heart-healthy diet and physical activity. In addition, you may need medications to treat heart damage or to lower your blood glucose, blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure.
For additional information about heart and blood vessel disease, high blood pressure, and high cholesterol, call the National Heart, Lung, and Blood Institute Health Information Center at 3015928573 or see www.nhlbi.nih.gov on the Internet. |
information | What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured). The classic form of Paget disease of bone typically appears in middle age or later. It usually occurs in one or a few bones and does not spread from one bone to another. Any bones can be affected, although the disease most commonly affects bones in the spine, pelvis, skull, or legs. Many people with classic Paget disease of bone do not experience any symptoms associated with their bone abnormalities. The disease is often diagnosed unexpectedly by x-rays or laboratory tests done for other reasons. People who develop symptoms are most likely to experience pain. The affected bones may themselves be painful, or pain may be caused by arthritis in nearby joints. Arthritis results when the distortion of bones, particularly weight-bearing bones in the legs, causes extra wear and tear on the joints. Arthritis most frequently affects the knees and hips in people with this disease. Other complications of Paget disease of bone depend on which bones are affected. If the disease occurs in bones of the skull, it can cause an enlarged head, hearing loss, headaches, and dizziness. If the disease affects bones in the spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal spinal curvature. In the leg bones, the disease can cause bowed legs and difficulty walking. A rare type of bone cancer called osteosarcoma has been associated with Paget disease of bone. This type of cancer probably occurs in less than 1 in 1,000 people with this disease. Early-onset Paget disease of bone is a less common form of the disease that appears in a person's teens or twenties. Its features are similar to those of the classic form of the disease, although it is more likely to affect the skull, spine, and ribs (the axial skeleton) and the small bones of the hands. The early-onset form of the disorder is also associated with hearing loss early in life. |
information | What is (are) Hematuria (Blood in the Urine) ? | The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. |
genetic changes | What are the genetic changes related to Greig cephalopolysyndactyly syndrome ? | Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome. |
symptoms | What are the symptoms of Lemierre syndrome ? | What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein.[ If undiagnosed, the next stage is the "metastasis" of septic emboli to the lungs, abdominal organs, brain or heart. Lung involvement typically results in a productive cough (a cough that brings up mucus or phlegm) and chest pain. Girls may report abdominal pain and have enlargement of the liver (hepatomegaly) and jaundice, all of which indicate involvement of the liver. |
information | What is (are) Majeed syndrome ? | Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood. These symptoms persist into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms. |
inheritance | Is peroxisomal acyl-CoA oxidase deficiency inherited ? | This condition 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 not show signs and symptoms of the condition. |
frequency | How many people are affected by carnitine palmitoyltransferase II deficiency ? | CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases. |
treatment | What are the treatments for short-chain acyl-CoA dehydrogenase deficiency ? | These resources address the diagnosis or management of SCAD deficiency: - Baby's First Test - Gene Review: Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency - Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase - MedlinePlus Encyclopedia: Newborn Screening Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
exams and tests | How to diagnose Desmoplastic infantile ganglioglioma ? | How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor. |
information | What is (are) Kniest dysplasia ? | Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot). Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible. |
information | What is (are) Swyer-James syndrome ? | Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood. |
treatment | What are the treatments for hemophilia ? | These resources address the diagnosis or management of hemophilia: - Gene Review: Gene Review: Hemophilia A - Gene Review: Gene Review: Hemophilia B - Genetic Testing Registry: HEMOPHILIA B(M) - Genetic Testing Registry: Hemophilia - Genetic Testing Registry: Hereditary factor IX deficiency disease - Genetic Testing Registry: Hereditary factor VIII deficiency disease - Genomics Education Programme (UK): Haemophilia A - MedlinePlus Encyclopedia: Factor IX Assay - MedlinePlus Encyclopedia: Factor VIII Assay - MedlinePlus Encyclopedia: Hemophilia A - MedlinePlus Encyclopedia: Hemophilia B - National Heart, Lung, and Blood Institute: How is Hemophilia Diagnosed? - National Heart, Lung, and Blood Institute: How is Hemophilia Treated? - National Hemophilia Foundation: Hemophilia Treatment Centers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
causes | What causes Foodborne Illnesses ? | The majority of foodborne illnesses are caused by harmful bacteria and viruses.2 Some parasites and chemicals also cause foodborne illnesses.
Bacteria
Bacteria are tiny organisms that can cause infections of the GI tract. Not all bacteria are harmful to humans.
Some harmful bacteria may already be present in foods when they are purchased. Raw foods including meat, poultry, fish and shellfish, eggs, unpasteurized milk and dairy products, and fresh produce often contain bacteria that cause foodborne illnesses. Bacteria can contaminate foodmaking it harmful to eatat any time during growth, harvesting or slaughter, processing, storage, and shipping.
Foods may also be contaminated with bacteria during food preparation in a restaurant or home kitchen. If food preparers do not thoroughly wash their hands, kitchen utensils, cutting boards, and other kitchen surfaces that come into contact with raw foods, cross-contaminationthe spread of bacteria from contaminated food to uncontaminated foodmay occur.
If hot food is not kept hot enough or cold food is not kept cold enough, bacteria may multiply. Bacteria multiply quickly when the temperature of food is between 40 and 140 degrees. Cold food should be kept below 40 degrees and hot food should be kept above 140 degrees. Bacteria multiply more slowly when food is refrigerated, and freezing food can further slow or even stop the spread of bacteria. However, bacteria in refrigerated or frozen foods become active again when food is brought to room temperature. Thoroughly cooking food kills bacteria.
Many types of bacteria cause foodborne illnesses. Examples include
- Salmonella, a bacterium found in many foods, including raw and undercooked meat, poultry, dairy products, and seafood. Salmonella may also be present on egg shells and inside eggs. - Campylobacter jejuni (C. jejuni), found in raw or undercooked chicken and unpasteurized milk. - Shigella, a bacterium spread from person to person. These bacteria are present in the stools of people who are infected. If people who are infected do not wash their hands thoroughly after using the bathroom, they can contaminate food that they handle or prepare. Water contaminated with infected stools can also contaminate produce in the field. - Escherichia coli (E. coli), which includes several different strains, only a few of which cause illness in humans. E. coli O157:H7 is the strain that causes the most severe illness. Common sources of E. coli include raw or undercooked hamburger, unpasteurized fruit juices and milk, and fresh produce. - Listeria monocytogenes (L. monocytogenes), which has been found in raw and undercooked meats, unpasteurized milk, soft cheeses, and ready-to-eat deli meats and hot dogs. - Vibrio, a bacterium that may contaminate fish or shellfish. - Clostridium botulinum (C. botulinum), a bacterium that may contaminate improperly canned foods and smoked and salted fish.
Viruses
Viruses are tiny capsules, much smaller than bacteria, that contain genetic material. Viruses cause infections that can lead to sickness. People can pass viruses to each other. Viruses are present in the stool or vomit of people who are infected. People who are infected with a virus may contaminate food and drinks, especially if they do not wash their hands thoroughly after using the bathroom.
Common sources of foodborne viruses include
- food prepared by a person infected with a virus - shellfish from contaminated water - produce irrigated with contaminated water
Common foodborne viruses include
- norovirus, which causes inflammation of the stomach and intestines - hepatitis A, which causes inflammation of the liver
Parasites
Parasites are tiny organisms that live inside another organism. In developed countries such as the United States, parasitic infections are relatively rare.
Cryptosporidium parvum and Giardia intestinalis are parasites that are spread through water contaminated with the stools of people or animals who are infected. Foods that come into contact with contaminated water during growth or preparation can become contaminated with these parasites. Food preparers who are infected with these parasites can also contaminate foods if they do not thoroughly wash their hands after using the bathroom and before handling food.
Trichinella spiralis is a type of roundworm parasite. People may be infected with this parasite by consuming raw or undercooked pork or wild game.
Chemicals
Harmful chemicals that cause illness may contaminate foods such as
- fish or shellfish, which may feed on algae that produce toxins, leading to high concentrations of toxins in their bodies. Some types of fish, including tuna and mahi mahi, may be contaminated with bacteria that produce toxins if the fish are not properly refrigerated before they are cooked or served. - certain types of wild mushrooms. - unwashed fruits and vegetables that contain high concentrations of pesticides. |
symptoms | What are the symptoms of Cockayne syndrome type III ? | What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | Do you have information about Coronary Artery Bypass Surgery | Summary : In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try treatments such as lifestyle changes, medicines, and angioplasty, a procedure to open the arteries. If these treatments don't help, you may need coronary artery bypass surgery. The surgery creates a new path for blood to flow to the heart. The surgeon takes a healthy piece of vein from the leg or artery from the chest or wrist. Then the surgeon attaches it to the coronary artery, just above and below the narrowed area or blockage. This allows blood to bypass (get around) the blockage. Sometimes people need more than one bypass. The results of the surgery usually are excellent. Many people remain symptom-free for many years. You may need surgery again if blockages form in the grafted arteries or veins or in arteries that weren't blocked before. Lifestyle changes and medicines may help prevent arteries from becoming clogged again. NIH: National Heart, Lung, and Blood Institute |
complications | What are the complications of Polycystic Kidney Disease ? | Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems.
Children born with autosomal recessive PKD often develop kidney failure before reaching adulthood.
Liver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems.
Additional complications of autosomal recessive PKD include high blood pressure and UTIs. |
symptoms | What are the symptoms of Overweight and Obesity ? | Weight gain usually happens over time. Most people know when they've gained weight. Some of the signs of overweight or obesity include:
Clothes feeling tight and needing a larger size.
The scale showing that you've gained weight.
Having extra fat around the waist.
A higher than normal body mass index and waist circumference. (For more information, go to "How Are Overweight and Obesity Diagnosed?") |
information | Do you have information about Herbal Medicine | Summary : An herb is a plant or plant part used for its scent, flavor, or therapeutic properties. Herbal medicines are one type of dietary supplement. They are sold as tablets, capsules, powders, teas, extracts, and fresh or dried plants. People use herbal medicines to try to maintain or improve their health. Many people believe that products labeled "natural" are always safe and good for them. This is not necessarily true. Herbal medicines do not have to go through the testing that drugs do. Some herbs, such as comfrey and ephedra, can cause serious harm. Some herbs can interact with prescription or over-the-counter medicines. If you are thinking about using an herbal medicine, first get information on it from reliable sources. Make sure to tell your health care provider about any herbal medicines you are taking. NIH: National Center for Complementary and Integrative Health |
information | Do you have information about Cancer Alternative Therapies | Summary : You have many choices to make about your cancer treatment. One choice you might be thinking about is complementary and alternative medicine (CAM). CAM is the term for medical products and practices that are not part of standard care. Examples of CAM therapies are acupuncture, chiropractic, and herbal medicines. People with cancer may use CAM to - Help cope with the side effects of cancer treatments - Ease worries of cancer treatment and related stress - Feel that they are doing something more to help their own care CAM treatments do not work for everyone. Some methods, such as acupuncture, might help with nausea, pain and other side effects of cancer treatment. Talk to your doctor to make sure that all aspects of your cancer care work together. NIH: National Cancer Institute |
treatment | What are the treatments for Buschke Ollendorff syndrome ? | How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150] |
inheritance | Is Leber hereditary optic neuropathy inherited ? | How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children. |
treatment | What are the treatments for Gallbladder Cancer ? | Key Points
- There are different types of treatment for patients with gallbladder cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Radiation sensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with gallbladder cancer.
Different types of treatments are available for patients with gallbladder cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Three types of standard treatment are used:
Surgery Gallbladder cancer may be treated with a cholecystectomy, surgery to remove the gallbladder and some of the tissues around it. Nearby lymph nodes may be removed. A laparoscope is sometimes used to guide gallbladder surgery. The laparoscope is attached to a video camera and inserted through an incision (port) in the abdomen. Surgical instruments are inserted through other ports to perform the surgery. Because there is a risk that gallbladder cancer cells may spread to these ports, tissue surrounding the port sites may also be removed. If the cancer has spread and cannot be removed, the following types of palliative surgery may relieve symptoms: - Surgical biliary bypass: If the tumor is blocking the small intestine and bile is building up in the gallbladder, a biliary bypass may be done. During this operation, the gallbladder or bile duct will be cut and sewn to the small intestine to create a new pathway around the blocked area. - Endoscopic stent placement: If the tumor is blocking the bile duct, surgery may be done to put in a stent (a thin, flexible tube) to drain bile that has built up in the area. The stent may be placed through a catheter that drains to the outside of the body or the stent may go around the blocked area and drain the bile into the small intestine. - Percutaneous transhepatic biliary drainage: A procedure done to drain bile when there is a blockage and endoscopic stent placement is not possible. An x-ray of the liver and bile ducts is done to locate the blockage. Images made by ultrasound are used to guide placement of a stent, which is left in the liver to drain bile into the small intestine or a collection bag outside the body. This procedure may be done to relieve jaundice before surgery. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat gallbladder cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated.
New types of treatment are being tested in clinical trials.
This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiation sensitizers Clinical trials are studying ways to improve the effect of radiation therapy on tumor cells, including the following: - Hyperthermia therapy: A treatment in which body tissue is exposed to high temperatures to damage and kill cancer cells or to make cancer cells more sensitive to the effects of radiation therapy and certain anticancer drugs. - Radiosensitizers: Drugs that make tumor cells more sensitive to radiation therapy. Giving radiation therapy together with radiosensitizers may kill more tumor cells.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Gallbladder Cancer
Localized Gallbladder Cancer
Treatment of localized gallbladder cancer may include the following: - Surgery to remove the gallbladder and some of the tissue around it. Part of the liver and nearby lymph nodes may also be removed. Radiation therapy with or without chemotherapy may follow surgery. - Radiation therapy with or without chemotherapy. - A clinical trial of radiation therapy with radiosensitizers. Check the list of NCI-supported cancer clinical trials that are now accepting patients with localized gallbladder cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Unresectable, Recurrent, or Metastatic Gallbladder Cancer
Treatment of unresectable, recurrent, or metastatic gallbladder cancer is usually within a clinical trial. Treatment may include the following: - Percutaneous transhepatic biliary drainage or the placement of stents to relieve symptoms caused by blocked bile ducts. This may be followed by radiation therapy as palliative treatment. - Surgery as palliative treatment to relieve symptoms caused by blocked bile ducts. - Chemotherapy. - A clinical trial of new ways to give palliative radiation therapy, such as giving it together with hyperthermia therapy, radiosensitizers, or chemotherapy. - A clinical trial of new drugs and drug combinations. Check the list of NCI-supported cancer clinical trials that are now accepting patients with unresectable gallbladder cancer, recurrent gallbladder cancer and metastatic gallbladder cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
treatment | What are the treatments for Menkes syndrome ? | These resources address the diagnosis or management of Menkes syndrome: - Gene Review: Gene Review: ATP7A-Related Copper Transport Disorders - Genetic Testing Registry: Menkes kinky-hair syndrome - MedlinePlus Encyclopedia: Copper in diet - MedlinePlus Encyclopedia: Menkes syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
symptoms | What are the symptoms of Troyer syndrome ? | What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. Affected people have progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; learning disorders; and short stature. Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal abnormalities; and a bending outward (valgus) of the knees. There is generally a slow, progressive decline in muscle and nerve function, and symptoms worsen over time. Most people need a wheelchair by their 50s or 60s. Affected people typically have a normal life expectancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Troyer 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Brachydactyly syndrome - Camptodactyly - Cerebellar atrophy - Childhood onset - Clinodactyly - Difficulty walking - Distal amyotrophy - Drooling - Dysarthria - Dysmetria - Emotional lability - Hammertoe - Hyperextensible hand joints - Hyperplasia of midface - Hyperreflexia - Hypertelorism - Intellectual disability, mild - Knee clonus - Kyphoscoliosis - Lower limb muscle weakness - Motor delay - Pes cavus - Short foot - Short stature - Spastic gait - Spastic paraparesis - Spastic paraplegia - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Thyroid hormone plasma membrane transport defect ? | What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Euthyroid hyperthyroxinemia - Goiter - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) multiple sulfatase deficiency ? | Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as "coarse." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time. The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency. Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen. |
symptoms | What are the symptoms of Porokeratosis of Mibelli ? | What are the signs and symptoms of Porokeratosis of Mibelli? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis of Mibelli. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 33% Abnormality of chromosome stability - Autosomal dominant inheritance - Middle age onset - Porokeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Hydrops fetalis ? | Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has. |
inheritance | Is neonatal onset multisystem inflammatory disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent. |
treatment | What are the treatments for hereditary hyperekplexia ? | These resources address the diagnosis or management of hereditary hyperekplexia: - Gene Review: Gene Review: Hyperekplexia - Genetic Testing Registry: Early infantile epileptic encephalopathy 8 - Genetic Testing Registry: Hyperekplexia hereditary These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
treatment | What are the treatments for Sleep Apnea ? | Sleep apnea is treated with lifestyle changes, mouthpieces, breathing devices, and surgery. Medicines typically aren't used to treat the condition.
The goals of treating sleep apnea are to:
Restore regular breathing during sleep
Relieve symptoms such as loud snoring and daytime sleepiness
Treatment may improve other medical problems linked to sleep apnea, such as high blood pressure. Treatment also can reduce your risk for heart disease,stroke, and diabetes.
If you have sleep apnea, talk with your doctor or sleep specialist about the treatment options that will work best for you.
Lifestyle changes and/or mouthpieces may relieve mild sleep apnea. People who have moderate or severe sleep apnea may need breathing devices or surgery.
If you continue to have daytime sleepiness despite treatment, your doctor may ask whether you're getting enough sleep. (Adults should get at least 7 to 8 hours of sleep; children and teens need more. For more information, go to the Health Topics Sleep Deprivation and Deficiency article.)
If treatment and enough sleep don't relieve your daytime sleepiness, your doctor will consider other treatment options.
Lifestyle Changes
If you have mild sleep apnea, some changes in daily activities or habits might be all the treatment you need.
Avoid alcohol and medicines that make you sleepy. They make it harder for your throat to stay open while you sleep.
Lose weight if you're overweight or obese. Even a little weight loss can improve your symptoms.
Sleep on your side instead of your back to help keep your throat open. You can sleep with special pillows or shirts that prevent you from sleeping on your back.
Keep your nasal passages open at night with nasal sprays or allergy medicines, if needed. Talk with your doctor about whether these treatments might help you.
If you smoke, quit. Talk with your doctor about programs and products that can help you quit smoking.
Mouthpieces
A mouthpiece, sometimes called an oral appliance, may help some people who have mild sleep apnea. Your doctor also may recommend a mouthpiece if you snore loudly but don't have sleep apnea.
A dentist or orthodontist can make a custom-fit plastic mouthpiece for treating sleep apnea. (An orthodontist specializes in correcting teeth or jaw problems.) The mouthpiece will adjust your lower jaw and your tongue to help keep your airways open while you sleep.
If you use a mouthpiece, tell your doctor if you have discomfort or pain while using the device. You may need periodic office visits so your doctor can adjust your mouthpiece to fit better.
Breathing Devices
CPAP (continuous positive airway pressure) is the most common treatment for moderate to severe sleep apnea in adults. A CPAP machine uses a mask that fits over your mouth and nose, or just over your nose.
The machine gently blows air into your throat. The pressure from the air helps keep your airway open while you sleep.
Treating sleep apnea may help you stop snoring. But not snoring doesn't mean that you no longer have sleep apnea or can stop using CPAP. Your sleep apnea will return if you stop using your CPAP machine or dont use it correctly.
Usually, a technician will come to your home to bring the CPAP equipment. The technician will set up the CPAP machine and adjust it based on your doctor's prescription. After the initial setup, you may need to have the CPAP adjusted from time to time for the best results.
CPAP treatment may cause side effects in some people. These side effects include a dry or stuffy nose, irritated skin on your face, dry mouth, and headaches. If your CPAP isn't adjusted properly, you may get stomach bloating and discomfort while wearing the mask.
If you're having trouble with CPAP side effects, work with your sleep specialist, his or her nursing staff, and the CPAP technician. Together, you can take steps to reduce the side effects.
For example, the CPAP settings or size/fit of the mask might need to be adjusted. Adding moisture to the air as it flows through the mask or using nasal spray can help relieve a dry, stuffy, or runny nose.
There are many types of CPAP machines and masks. Tell your doctor if you're not happy with the type you're using. He or she may suggest switching to a different type that might work better for you.
People who have severe sleep apnea symptoms generally feel much better once they begin treatment with CPAP.
Surgery
Some people who have sleep apnea might benefit from surgery. The type of surgery and how well it works depend on the cause of the sleep apnea.
Surgery is done to widen breathing passages. It usually involves shrinking, stiffening, or removing excess tissue in the mouth and throat or resetting the lower jaw.
Surgery to shrink or stiffen excess tissue is done in a doctor's office or a hospital. Shrinking tissue may involve small shots or other treatments to the tissue. You may need a series of treatments to shrink the excess tissue. To stiffen excess tissue, the doctor makes a small cut in the tissue and inserts a piece of stiff plastic.
Surgery to remove excess tissue is done in a hospital. You're given medicine to help you sleep during the surgery. After surgery, you may have throat pain that lasts for 1 to 2 weeks.
Surgery to remove the tonsils, if they're blocking the airway, might be helpful for some children. Your child's doctor may suggest waiting some time to see whether these tissues shrink on their own. This is common as small children grow. |
symptoms | What are the symptoms of Stickler syndrome, type 2 ? | What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Myopia 90% Opacification of the corneal stroma 90% Retinal detachment 90% Sensorineural hearing impairment 90% Cleft palate 50% Retinopathy 50% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Bifid uvula - Depressed nasal bridge - Flat midface - Glaucoma - Joint hypermobility - Long fingers - Malar flattening - Pierre-Robin sequence - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
frequency | How many people are affected by childhood myocerebrohepatopathy spectrum ? | The prevalence of childhood myocerebrohepatopathy spectrum is unknown. |
information | What is (are) 3-methylcrotonyl-CoA carboxylase deficiency ? | 3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition. The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. |
symptoms | What are the symptoms of Beta ketothiolase deficiency ? | What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Episodic ketoacidosis - Intellectual disability - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Autoimmune polyglandular syndrome type 1 ? | Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion. |
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