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Hepatolenticular Degeneration MeSH Descriptor Data 2023


MeSH Heading
Hepatolenticular Degeneration
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
Unique ID
D006527
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D006527
Annotation
lenticular refers to the lenticular nucleus in the brain
Scope Note
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.
Entry Term(s)
Cerebral Pseudosclerosis
Copper Storage Disease
Hepatic Form of Wilson Disease
Hepato-Neurologic Wilson Disease
Hepatocerebral Degeneration
Hepatolenticular Degeneration Syndrome
Kinnier-Wilson Disease
Neurohepatic Degeneration
Progressive Lenticular Degeneration
Pseudosclerosis
Westphal-Strumpell Syndrome
Wilson Disease
Wilson Disease, Hepatic Form
Wilson's Disease
NLM Classification #
WI 740
See Also
Copper-Transporting ATPases
Public MeSH Note
1964; see HEPATO-LENTICULAR DEGENERATION 1963
History Note
1964(1963)
Date Established
1964/01/01
Date of Entry
1999/01/01
Revision Date
2019/07/11
Hepatolenticular Degeneration Preferred
Hepatic Form of Wilson Disease Narrower
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