Wilson's disease causes: Difference between revisions
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{{CMG}}; {{AE}} {{AEL}} | {{CMG}}; {{AE}} {{AEL}} | ||
==Overview== | ==Overview== | ||
Wilson's disease is caused by ATP7B gene mutation and impairement of copper transportation. | Wilson's disease is caused by [[ATP7B]] [[gene mutation]] and impairement of copper transportation. | ||
==Causes== | ==Causes== | ||
*Wilson's disease is caused mainly by mutations in the genes responsible for copper transport. | *Wilson's disease is caused mainly by mutations in the [[genes]] responsible for copper transport. | ||
*Genetic mutations: | *[[Genetic mutations]]: | ||
**ATP7B ''gene'' | **[[ATP7B|ATP7B ''gene'']] | ||
*Impairment mechanisms | *Impairment of copper transport mechanisms include the following: | ||
**Imapired copper incorporation in ceruloplasmin production | **Imapired [[copper]] incorporation in [[ceruloplasmin]] production | ||
**Copper accumulation in the liver | **Copper accumulation in the [[liver]] | ||
**Extrahepatic copper accumulation | **Extrahepatic copper accumulation | ||
Revision as of 14:50, 28 December 2017
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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:
- Impairment of copper transport mechanisms include the following:
- Imapired copper incorporation in ceruloplasmin production
- Copper accumulation in the liver
- Extrahepatic copper accumulation