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Mesh term Hepatolenticular Degeneration

Browse to parent terms:
Basal Ganglia Diseases
Brain Diseases, Metabolic, Inborn
Heredodegenerative Disorders, Nervous System
Liver Diseases
Metal Metabolism, Inborn Errors
Movement Disorders


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, 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.

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