KEGG   DISEASE: H00210Help
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 disease; Nervous system disease; Liver disease
BRITE hierarchy
Gene
ATP7B; Cu2+-exporting ATPase [HSA:540] [KO:K17686]
Marker
Ceruloplasmin [HSA:1356]
Drug
Penicillamine [DR:D00496]
Galzin [DR:D06408]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)
Reference
  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)
Reference
  Authors
Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML
  Title
Wilson's disease.
  Journal
Lancet 369:397-408 (2007)
Reference
  Authors
Durand F
  Title
Wilson's disease: an old disease keeps its old secrets.
  Journal
Eur J Gastroenterol Hepatol 19:97-9 (2007)

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