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.
Year introduced: 1964(1963)
PubMed search builder options
Subheadings:
Tree Number(s): 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 Unique ID: D006527
Entry Terms:
- 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
See Also: