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.
推出的年份: 1964(1963)
树号: C06.552.413, C10.228.140.079.493, C10.228.140.163.100.360, C10.228.662.400, C10.574.500.487, C16.320.400.361, C16.320.565.189.360, C16.320.565.618.403, C18.452.132.100.360, C18.452.648.189.360, C18.452.648.618.403
MeSH 单一 ID: D006527
进入的组:
Degeneration, Hepatolenticular
Pseudosclerosis
Wilson Disease
Wilson's Disease
Wilsons Disease
Cerebral Pseudosclerosis
Cerebral Pseudoscleroses
Pseudoscleroses, Cerebral
Pseudosclerosis, Cerebral
Hepatolenticular Degeneration Syndrome
Degeneration Syndrome, Hepatolenticular
Degeneration Syndromes, Hepatolenticular
Hepatolenticular Degeneration Syndromes
Syndrome, Hepatolenticular Degeneration
Syndromes, Hepatolenticular Degeneration
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
Westphal-Strumpell Syndrome
Westphal Strumpell Syndrome
Westphal-Strumpell Syndromes
Copper Storage Disease
Copper Storage Diseases
Disease, Copper Storage
Diseases, Copper Storage
Storage Disease, Copper
Storage Diseases, Copper
Progressive Lenticular Degeneration
Degeneration, Progressive Lenticular
Lenticular Degeneration, Progressive
Neurohepatic Degeneration
Degeneration, Neurohepatic
Degenerations, Neurohepatic
Neurohepatic Degenerations
Hepatic Form of Wilson Disease
Wilson Disease, Hepatic Form
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