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