KEGG   DISEASE: Wilson disease
Entry
H00210                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H00210  Wilson disease
Pathway
hsa04978  Mineral absorption
Gene
ATP7B [HSA:540] [KO:K17686]
Drug
Zinc acetate [DR:D06408]
Trientine hydrochloride [DR:D00736]
Trientine tetrahydrochloride [DR:D11649]
Penicillamine [DR:D00496]
Other DBs
ICD-11: 5C64.00
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
Reference
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
Reference
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
Reference
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
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