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 » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » 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
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Hepatolenticular Degeneration
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hepatolenticular Degeneration
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » Hepatolenticular Degeneration
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Hepatolenticular Degeneration
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hepatolenticular Degeneration
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Metal Metabolism, Inborn Errors » 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
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Approved Indicated Drugs (5)
Phase 4 Indicated Drugs (2)
Phase 3 Indicated Drugs (3)
Phase 1 Indicated Drugs (2)
Other Experimental Indicated Drugs (2)
Organization Involved with Phase 4 Indications (3)
Organization Involved with Phase 3 Indications (5)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (5)
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UMLS Data
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