Wilson Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Gastrointestinal diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 36MedlinePlus, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Wilson Disease:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (France),1-9/1000000 (Italy),1-5/10000 (Japan),1-5/10000,1-5/10000 (Ireland),1-9/100000 (Germany); Age of onset: Childhood
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Gastrointestinal diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
MedlinePlus:36 Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. you need a small amount of copper from food to stay healthy. too much copper is poisonous. normally, your liver releases extra copper into bile, a digestive fluid. with wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. this can cause damage to your brain, kidneys, and eyes. wilson disease is present at birth, but symptoms usually start between ages 5 and 35. it first attacks the liver, the central nervous system or both. the most characteristic sign is a rusty brown ring around the cornea of the eye. a physical exam and laboratory tests can diagnose it. treatment is with drugs to remove the extra copper from your body. you need to take medicine and follow a low-copper diet for the rest of your life. don't eat shellfish or liver, as these foods may contain high levels of copper. at the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. have your drinking water checked for copper content and don't take multivitamins that contain copper. with early detection and proper treatment, you can enjoy good health. nih: national institute of diabetes and digestive and kidney diseases
MalaCards based summary: Wilson Disease, also known as hepatolenticular degeneration, is related to acute liver failure and visceral leishmaniasis, and has symptoms including kayser-fleischer ring, polyneuropathy and proteinuria. An important gene associated with Wilson Disease is ATP7B (ATPase Copper Transporting Beta), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Detoxification of Reactive Oxygen Species. The drugs trientine and trientine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and brain, and related mouse phenotypes are pigmentation and liver/biliary system.
NIH Rare Diseases:46 Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. signs and symptoms of wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. it is caused by a mutation of the atp7b gene and is inherited in an autosomal recessive manner. although there is no cure for wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. last updated: 2/5/2015
UniProtKB/Swiss-Prot:68 Wilson disease: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis.
NINDS:47 Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body.
Genetics Home Reference:24 Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
OMIM:50 Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper... (277900) more...
Wikipedia:69 Wilson\'s disease is an autosomal recessive genetic disorder in which copper accumulates in tissues;... more...
HPO human phenotypes related to Wilson Disease:(show all 32)
UMLS symptoms related to Wilson Disease:abdominal pain, back pain, constipation, diarrhea, drooling, dyspepsia, headache, heartburn, hepatomegaly, nausea and vomiting, pain, sciatica, seizures, syncope, tremor, chronic pain, personality change, vertigo/dizziness, gastrointestinal gas, corneal structural change, deposit and degeneration, sleeplessness, corneal striae, dellen, arcus lipoides, corneal leukoma, corneal thickening, corneal flap complication
Drugs for Wilson Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 302)
Interventional clinical trials:(show top 50) (show all 563)
Search NIH Clinical Center for Wilson Disease
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Wilson Disease:34
Liver, Lung, Brain, Breast, Kidney, Eye, Testes
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Wilson Disease:
MGI Mouse Phenotypes related to Wilson Disease:39
Articles related to Wilson Disease:(show top 50) (show all 633)
UniProtKB/Swiss-Prot genetic disease variations for Wilson Disease:68 (show all 194)
Clinvar genetic disease variations for Wilson Disease:5 (show all 98)
Search GEO for disease gene expression data for Wilson Disease.
Pathways related to Wilson Disease according to GeneCards Suite gene sharing:
Cellular components related to Wilson Disease according to GeneCards Suite gene sharing:
Biological processes related to Wilson Disease according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Wilson Disease according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet