Hepatolenticular Degeneration

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.

Also Known As:

Wilson's Disease; Wilson Disease; Hepatic Form of Wilson Disease; Hepato-Neurologic Wilson Disease; Hepatocerebral Degeneration; Kinnier-Wilson Disease; Progressive Lenticular Degeneration; Westphal-Strumpell Syndrome; Wilson Disease, Hepatic Form; Cerebral Pseudoscleroses; Degeneration, Hepatocerebral; Degeneration, Hepatolenticular; Degeneration, Neurohepatic; Degeneration, Progressive Lenticular; Degenerations, Hepatocerebral; Degenerations, Neurohepatic; Diseases, Hepato-Neurologic Wilson; Diseases, Kinnier-Wilson; Hepato Neurologic Wilson Disease; Hepato-Neurologic Wilson Diseases; Hepatocerebral Degenerations; Kinnier Wilson Disease; Kinnier-Wilson Diseases; Lenticular Degeneration, Progressive; Neurohepatic Degenerations; Pseudoscleroses, Cerebral; Pseudosclerosis, Cerebral; Westphal Strumpell Syndrome; Westphal-Strumpell Syndromes; Wilson Disease, Hepato-Neurologic; Wilson Diseases, Hepato-Neurologic; Wilsons Disease; Cerebral Pseudosclerosis; Neurohepatic Degeneration; Pseudosclerosis

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Digestive System Diseases: 31

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Liver Diseases: 20042

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Hepatolenticular Degeneration: 2131

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Nervous System Diseases: 3643

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Neurodegenerative Diseases: 8307

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Nervous System Heredodegenerative Disorders: 26

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Hepatolenticular Degeneration: 2131

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Central Nervous System Diseases: 1005

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Movement Disorders: 1584

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Hepatolenticular Degeneration: 2131

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Brain Diseases: 1203

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Basal Ganglia Diseases: 190

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Hepatolenticular Degeneration: 2131

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Metabolic Brain Diseases: 103

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Inborn Metabolic Brain Diseases

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Hepatolenticular Degeneration: 2131

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Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 449

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Inborn Genetic Diseases: 578

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Inborn Errors Metabolism: 434

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Inborn Errors Metal Metabolism

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Hepatolenticular Degeneration: 2131

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Inborn Metabolic Brain Diseases

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Hepatolenticular Degeneration: 2131

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Nervous System Heredodegenerative Disorders: 26

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Hepatolenticular Degeneration: 2131

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Nutritional and Metabolic Diseases

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Metabolic Diseases: 1406

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Inborn Errors Metabolism: 434

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Inborn Errors Metal Metabolism

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Hepatolenticular Degeneration: 2131

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Inborn Metabolic Brain Diseases

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Hepatolenticular Degeneration: 2131

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Metabolic Brain Diseases: 103

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Inborn Metabolic Brain Diseases

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Hepatolenticular Degeneration: 2131

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