Other terms
Degeneration, Hepatolenticular,Pseudosclerosis,Wilson Disease,Wilson's Disease,Wilsons Disease,Westphal-Strumpell Syndrome,Westphal Strumpell Syndrome,Westphal-Strumpell Syndromes,Neurohepatic Degeneration,Degeneration, Neurohepatic,Degenerations, Neurohepatic,Neurohepatic Degenerations,Hepato-Neurologic Wilson Disease,Diseases, Hepato-Neurologic Wilson,Hepato Neurologic Wilson Disease,Hepato-Neurologic Wilson Diseases,Wilson Disease, Hepato-Neurologic,Wilson Diseases, Hepato-Neurologic,Hepatocerebral Degeneration,Degeneration, Hepatocerebral,Degenerations, Hepatocerebral,Hepatocerebral Degenerations,Kinnier-Wilson Disease,Diseases, Kinnier-Wilson,Kinnier Wilson Disease,Kinnier-Wilson Diseases,Progressive Lenticular Degeneration,Degeneration, Progressive Lenticular,Lenticular Degeneration, Progressive,Cerebral Pseudosclerosis,Cerebral Pseudoscleroses,Pseudoscleroses, Cerebral,Pseudosclerosis, Cerebral,Hepatic Form of Wilson Disease,Wilson Disease, Hepatic Form
Description
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.
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- Liver Diseases
- Basal Ganglia Diseases
- Movement Disorders
- Heredodegenerative Disorders, Nervous System
- Heredodegenerative Disorders, Nervous System
- Brain Diseases, Metabolic, Inborn
- Metal Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Metal Metabolism, Inborn Errors
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