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.

Descriptor ID	D006527
MeSH 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
Concept/Terms	Hepatolenticular Degeneration Hepatolenticular Degeneration Degeneration, Hepatolenticular 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 Neurohepatic Degeneration Degeneration, Neurohepatic Degenerations, Neurohepatic Neurohepatic Degenerations Hepatolenticular Degeneration Syndrome Pseudosclerosis Westphal-Strumpell Syndrome Westphal Strumpell Syndrome Westphal-Strumpell Syndromes Wilson Disease Wilson's Disease Wilsons Disease Copper Storage Disease Cerebral Pseudosclerosis Cerebral Pseudoscleroses Pseudoscleroses, Cerebral Pseudosclerosis, Cerebral Progressive Lenticular Degeneration Degeneration, Progressive Lenticular Lenticular Degeneration, Progressive Hepatic Form of Wilson Disease Hepatic Form of Wilson Disease Wilson Disease, Hepatic Form

Below are MeSH descriptors whose meaning is more general than "Hepatolenticular Degeneration".

Below are MeSH descriptors whose meaning is related to "Hepatolenticular Degeneration".

Below are MeSH descriptors whose meaning is more specific than "Hepatolenticular Degeneration".