Hepatolenticular Degeneration D006527

Related MeSH Hierarchy (11)

Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Hepatolenticular Degeneration

Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Basal Ganglia Diseases » Hepatolenticular Degeneration

Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Movement Disorders » Hepatolenticular Degeneration

Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Hepatolenticular Degeneration

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.   MeSH

Phase 4 Indicated Drugs (1)

Phase 3 Indicated Drugs (5)

Phase 2 Indicated Drugs (1)

Phase 1 Indicated Drugs (2)

Other Experimental Indicated Drugs (2)


Organization Involved with Phase 4 Indications (3)

Organization Involved with Phase 1 Indications (2)

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UMLS Data


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