| H00210 | |
| H number | H00210 |
| Name | Wilson disease; Hepatolenticular degeneration |
| Description | Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | ATP7B [HSA:540] [KO:K17686] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Zinc acetate [DR:D06408] Trientine hydrochloride [DR:D00736] Trientine tetrahydrochloride [DR:D11649] Penicillamine [DR:D00496] |
| Comment | - |
| Other DBs | ICD-11: 5C64.00 ICD-10: E83.0 MeSH: D006527 OMIM: 277900 |
| Reference | PMID:17717039 AUTHORS de Bie P, Muller P, Wijmenga C, Klomp LW TITLE Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. JOURNAL J Med Genet 44:673-88 (2007) DOI:10.1136/jmg.2007.052746 PMID:17382611 AUTHORS Medici V, Rossaro L, Sturniolo GC TITLE Wilson disease--a practical approach to diagnosis, treatment and follow-up. JOURNAL Dig Liver Dis 39:601-9 (2007) DOI:10.1016/j.dld.2006.12.095 PMID:17276780 AUTHORS Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML TITLE Wilson's disease. JOURNAL Lancet 369:397-408 (2007) DOI:10.1016/S0140-6736(07)60196-2 PMID:17272992 AUTHORS Durand F TITLE Wilson's disease: an old disease keeps its old secrets. JOURNAL Eur J Gastroenterol Hepatol 19:97-9 (2007) DOI:10.1097/MEG.0b013e32800fef34 |