Hepatolenticular Degeneration

**Definition:** 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.

**Tree numbers:** - 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

**Synonyms:** - Progressive Lenticular Degeneration - Pseudosclerosis - Wilson Disease - Wilson's Disease - Cerebral Pseudosclerosis - Neurohepatic Degeneration - Hepato-Neurologic Wilson Disease - Hepatocerebral Degeneration - Kinnier-Wilson Disease - Westphal-Strumpell Syndrome - Copper Storage Disease - Hepatolenticular Degeneration Syndrome