Wilson's disease causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Wilson’s disease is caused by ATP7B gene mutation and impairement of copper transportation.
Causes
- Wilson’s disease is caused mainly by mutations in the genes responsible for copper transport.
- Genetic mutations:[1]
- Impairment of copper transport mechanisms include the following:[2]
- Imapired copper incorporation in ceruloplasmin
- Copper accumulation in the liver
- Extrahepatic copper accumulation
References
- ↑ Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993). “The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene”. Nat Genet. 5 (4): 327–37. doi:10.1038/ng1293-327. PMID 8298639.
- ↑ Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B; et al. (1993). “The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene”. Nat Genet. 5 (4): 344–50. doi:10.1038/ng1293-344. PMID 8298641.
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