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Is Pyruvate kinase deficiency inherited ? | How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is ... |
How to diagnose Pyruvate kinase deficiency ? | Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We re... |
What are the treatments for Pyruvate kinase deficiency ? | How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to hel... |
What is (are) Nonalcoholic steatohepatitis ? | Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a... |
What causes Nonalcoholic steatohepatitis ? | What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese ... |
How to diagnose Nonalcoholic steatohepatitis ? | How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease... |
What are the treatments for Nonalcoholic steatohepatitis ? | How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary... |
What are the symptoms of Cerebral gigantism jaw cysts ? | What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What are the symptoms of Geleophysic dwarfism ? | What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. 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 Dic... |
What are the symptoms of Familial tumoral calcinosis ? | What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Autosomal recessive polycystic kidney disease ? | Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD ... |
What are the symptoms of Autosomal recessive polycystic kidney disease ? | What are the signs and symptoms of Autosomal recessive polycystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive polycystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this ... |
Is Autosomal recessive polycystic kidney disease inherited ? | How is autosomal recessive polycystic kidney disease inherited? Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, w... |
What are the treatments for Autosomal recessive polycystic kidney disease ? | Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition b... |
What are the symptoms of Pancreatic cancer, childhood ? | What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... |
What is (are) Sneddon syndrome ? | Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesi... |
What are the symptoms of Sneddon syndrome ? | What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... |
What causes Sneddon syndrome ? | What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipi... |
What are the symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin ? | What are the signs and symptoms of Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin. If the information is available,... |
What is (are) Rett syndrome ? | Rett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms m... |
What are the symptoms of Rett syndrome ? | What are the signs and symptoms of Rett syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rett 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 loo... |
What causes Rett syndrome ? | What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protei... |
Is Rett syndrome inherited ? | Is Rett syndrome inherited? Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, and are not inherited. A few families have been described with more than one affecte... |
What are the symptoms of Hypercholesterolemia, autosomal dominant ? | What are the signs and symptoms of Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What is (are) CDKL5-related disorder ? | A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often ... |
What is (are) Limb dystonia ? | Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate ... |
What is (are) Lamellar ichthyosis ? | Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other sign... |
What are the symptoms of Lamellar ichthyosis ? | What are the signs and symptoms of Lamellar ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Lamellar ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dicti... |
What are the treatments for Lamellar ichthyosis ? | How might lamellar ichthyosis be treated? Unfortunately, there is currently no cure for lamellar ichthyosis. Management is generally supportive and based on the signs and symptoms present in each person. For infants, providing a moist environment in an isolette (incubator) and preventing infection are most important. P... |
What are the symptoms of Lubinsky syndrome ? | What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky 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 Dictionar... |
What is (are) Tyrosinemia type 3 ? | Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. Thi... |
What are the symptoms of Tyrosinemia type 3 ? | What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 3. 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 Diction... |
What is (are) Churg Strauss syndrome ? | Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin... |
What are the symptoms of Churg Strauss syndrome ? | What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosino... |
What are the symptoms of Leiomyoma of vulva and esophagus ? | What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... |
What are the symptoms of Chondrosarcoma ? | What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... |
What is (are) Congenital central hypoventilation syndrome ? | Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected inf... |
What are the symptoms of Congenital central hypoventilation syndrome ? | What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
Is Congenital central hypoventilation syndrome inherited ? | How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CC... |
What are the symptoms of Fallot complex with severe mental and growth retardation ? | What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. If the information is available, the table below includes how often the symptom is see... |
What are the symptoms of Kaufman oculocerebrofacial syndrome ? | What are the signs and symptoms of Kaufman oculocerebrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaufman oculocerebrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What is (are) Nevoid basal cell carcinoma syndrome ? | Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tu... |
What are the symptoms of Nevoid basal cell carcinoma syndrome ? | What are the signs and symptoms of Nevoid basal cell carcinoma syndrome? Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family. Signs and symptoms in affected people may include: large ... |
Is Nevoid basal cell carcinoma syndrome inherited ? | How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may... |
What are the treatments for Nevoid basal cell carcinoma syndrome ? | How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detect... |
What is (are) Trigeminal neuralgia ? | Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressi... |
What are the symptoms of Trigeminal neuralgia ? | What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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 Dic... |
What are the treatments for Trigeminal neuralgia ? | How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotri... |
What are the symptoms of Dyssynergia cerebellaris myoclonica ? | What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Brachydactyly types B and E combined ? | What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Sjogren syndrome ? | Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addi... |
What are the symptoms of Sjogren syndrome ? | What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... |
What 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 perso... |
Is Sjogren syndrome inherited ? | Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome h... |
What are the symptoms of Preaxial polydactyly type 4 ? | What are the signs and symptoms of Preaxial polydactyly type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Lymphatic filariasis ? | Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A sm... |
What are the treatments for Lymphatic filariasis ? | How might lymphatic filariasis be treated? The main treatment for this disorder is the use of major anti-parasiticide drugs; examples of these include ivermectin, albendazole, and diethylcarbamazine (DEC). These drugs work to get rid of the larval worm, to inhibit reproduction of the adult worm, or to kill the adult wo... |
What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? | What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen ... |
What is (are) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmenta... |
What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? | What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. If the information is availabl... |
What are the symptoms of Spinocerebellar ataxia 12 ? | What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Hepatic lipase deficiency ? | Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecul... |
What are the symptoms of Hepatic lipase deficiency ? | What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase 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 M... |
What are the symptoms of 8q12 microduplication syndrome ? | What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 Med... |
What are the symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities ? | What are the signs and symptoms of Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities. If the information is avai... |
What is (are) Progressive multifocal leukoencephalopathy ? | Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system beco... |
What are the treatments for Progressive multifocal leukoencephalopathy ? | How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy ... |
What are the symptoms of Renal hypouricemia ? | What are the signs and symptoms of Renal hypouricemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. 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 Diction... |
What are the symptoms of Facio thoraco genital syndrome ? | What are the signs and symptoms of Facio thoraco genital syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Facio thoraco genital 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 Med... |
What are the symptoms of Split hand urinary anomalies spina bifida ? | What are the signs and symptoms of Split hand urinary anomalies spina bifida? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand urinary anomalies spina bifida. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What are the symptoms of Microcephaly cervical spine fusion anomalies ? | What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. If the information is available, the table below includes how often the symptom is seen in people with this co... |
What is (are) Metachondromatosis ? | Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the i... |
What are the symptoms of Metachondromatosis ? | What are the signs and symptoms of Metachondromatosis? Metachondromatosis (MC) is characterized by the presence of both multiple enchondromas and osteochondromas. The features of the condition generally become apparent in the first decade of life. Enchondromas are benign (noncancerous) tumors that appear on the inside ... |
What are the symptoms of Acrorenal mandibular syndrome ? | What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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 Medli... |
What is (are) Imerslund-Grasbeck syndrome ? | Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about h... |
What are the symptoms of Imerslund-Grasbeck syndrome ? | What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals al... |
How to diagnose Imerslund-Grasbeck syndrome ? | How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin ... |
What are the symptoms of Hurler syndrome ? | What are the signs and symptoms of Hurler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hurler 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... |
What is (are) Long QT syndrome ? | Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be ... |
What are the symptoms of Long QT syndrome ? | What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the Natio... |
What causes Long QT syndrome ? | What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long Q... |
How to diagnose Long QT syndrome ? | How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosi... |
What is (are) Androgen insensitivity syndrome ? | Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h... |
What are the symptoms of Androgen insensitivity syndrome ? | What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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 M... |
What are the symptoms of Onychodystrophy-anonychia ? | What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... |
What is (are) Encephalocele ? | Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of ... |
What is (are) X-linked hypophosphatemia ? | X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinic... |
What are the symptoms of X-linked hypophosphatemia ? | What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, s... |
What causes X-linked hypophosphatemia ? | What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone th... |
Is X-linked hypophosphatemia inherited ? | How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the... |
How to diagnose X-linked hypophosphatemia ? | How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes ... |
What are the treatments for X-linked hypophosphatemia ? | How might X-linked hypophosphatemia be treated? X-linked hypophosphatemia is different from other types of rickets because it cannot be treated by increasing vitamin D alone. Phosphate supplementation is generally required and is typically combined with a high dose of calcitriol, the activated form of vitamin D. Calcit... |
What is (are) Adenylosuccinase deficiency ? | Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and mov... |
What are the symptoms of Adenylosuccinase deficiency ? | What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition... |
What are the treatments for Adenylosuccinase deficiency ? | How might adenylosuccinase deficiency be treated? At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features. |
What is (are) Oculocutaneous albinism type 2 ? | Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form ... |
What are the symptoms of Oculocutaneous albinism type 2 ? | What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism 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 Med... |
What is (are) Autoimmune atrophic gastritis ? | Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmu... |
What are the symptoms of Autoimmune atrophic gastritis ? | What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impa... |
What causes Autoimmune atrophic gastritis ? | What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the ... |
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