DESCRIPTION:
A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. Generated by gene2mesh v. 1.1.1
LABEL:
Hepatolenticular Degeneration
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
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