{"orpha":905,"name":"Wilson disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hepatolenticular degeneration"],"definition":"A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-905/","orphanet_url":"https://www.orpha.net/en/disease/detail/905","names":{"fr":{"name":"Maladie de Wilson","synonyms":["Dégénérescence hépato-lenticulaire"],"definition":"Trouble génétique rare du métabolisme du cuivre se manifestant par des troubles hépatiques, neurologiques, psychiatriques ou ophtalmologiques non spécifiques, dus à une anomalie de l'excrétion biliaire du cuivre entraînant un dépôt excessif de cuivre dans l'organisme."},"de":{"name":"Wilson-Krankheit","synonyms":["Degeneration, hepatolentikuläre"],"definition":"Eine seltene genetische Störung des Kupferstoffwechsels mit unspezifischen hepatischen, neurologischen, psychiatrischen oder ophthalmologischen Manifestationen aufgrund einer gestörten biliären Kupferausscheidung und konsekutiven übermäßigen Kupferablagerung im Körper."},"es":{"name":"Enfermedad de Wilson","definition":"Es un trastorno genético y poco frecuente del metabolismo del cobre que debuta con manifestaciones hepáticas, neurológicas, psiquiátricas u oftalmológicas inespecíficas debido a la alteración de la excreción biliar de cobre y al consiguiente depósito excesivo de cobre en el organismo."},"it":{"name":"Malattia di Wilson","synonyms":["Degenerazione epatolenticolare"],"definition":"Si tratta di una malattia rara del metabolismo del rame, di origine genetica, che esordisce con sintomi epatici, neurologici, psichiatrici e oculari aspecifici, secondari alla compromissione della produzione biliare del rame e al conseguente accumulo nell'organismo."},"nl":{"name":"Ziekte van Wilson","synonyms":["Hepatolenticulaire degeneratie"],"definition":"Een zeldzame, genetische aandoening van kopermetabolisme, die zich presenteert met aspecifieke hepatische, neurologische, psychiatrische of oftalmologische manifestaties als gevolg van verstoorde excretie van koper in gal en daaropvolgende excessieve depositie van koper in het lichaam."},"pt":{"name":"Doença de Wilson","synonyms":["Degenerescência hepatolenticular"]},"pl":{"name":"Choroba Wilsona","synonyms":["Zwyrodnienie soczewkowo-wątrobowe"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie metabolizmu miedzi, które obejmuje nieswoiste objawy wątrobowe, neurologiczne, psychiatryczne i/lub okulistyczne związane z upośledzonym wydalaniem miedzi z żółcią i w konsekwencji jej nadmiernym odkładaniem się w organizmie."},"cs":{"name":"Wilsonova choroba","synonyms":["Hepatolentikulární degenerace"]},"uk":{"name":"Хвороба Вільсона","synonyms":["Гепатолентикулярна дегенерація"],"definition":"A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body."},"zh":{"name":"肝豆状核变性","synonyms":["肝豆状核变性"]},"tr":{"name":"Wilson hastalığı","synonyms":["Hepatolentiküler dejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"277900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C64.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"468161208"},{"source":"MONDO","code":"0010200","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019202","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019819","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":225692,"name":"Metal transport or utilization disorder with epilepsy","classifications":[156,181]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":370106,"name":"Rare disorder with dystonia and other neurologic or systemic manifestation","classifications":[156,181]},{"orpha":307061,"name":"Rare genetic tremor disorder","classifications":[156]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]},{"orpha":98687,"name":"Supranuclear eye movement disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ATP7B","name":"ATPase copper transporting beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23333878[PMID]_22240481[PMID]","hgnc":"870","ensembl":"ENSG00000123191","omim":"606882","loci":["13q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.25,"area":"Worldwide","status":"Validated","source":"31449670[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.02,"area":"Worldwide","status":"Validated","source":"31449670[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"France","status":"Validated","source":"28648494[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.94,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":3.0,"area":"Japan","status":"Validated","source":"7338703[PMID]_17276780 [PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"China","status":"Validated","source":"20301685[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.5,"area":"Specific population","status":"Validated","source":"11953730[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":37.04,"area":"Specific population","status":"Validated","source":"23486543[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.37,"area":"Ireland","status":"Validated","source":"8459248[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Germany","status":"Validated","source":"542546[PMID]_17276780[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.016,"area":"Finland","status":"Validated","source":"32618023[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Finland","status":"Validated","source":"32618023[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-19","source":"28723019[PMID]_20301685[PMID]_34432061[PMID]_24209444[PMID]","terms":[{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200119","label":"Acute hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:5200321","label":"Amplification of sexual behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200032","label":"Kayser-Fleischer ring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012748","label":"Focal T2 hyperintense brainstem lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000642","label":"Sunflower cataract","frequency":"Very rare (<4-1%)","criteria":null}]}}