Structured Summary
Abstract
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.
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Classification
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MeSH Record
Synonyms
47 entry terms
- Cerebral Pseudosclerosis
- Copper Storage 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's Disease
- Cerebral Pseudoscleroses
- Copper Storage Diseases
- Degeneration Syndrome, Hepatolenticular
- Degeneration Syndromes, Hepatolenticular
- Degeneration, Hepatocerebral
- Degeneration, Hepatolenticular
- Degeneration, Neurohepatic
- Degeneration, Progressive Lenticular
- Degenerations, Hepatocerebral
- Degenerations, Neurohepatic
- Disease, Copper Storage
- Diseases, Copper Storage
- Diseases, Hepato-Neurologic Wilson
- Diseases, Kinnier-Wilson
- Hepato Neurologic Wilson Disease
- Hepato-Neurologic Wilson Diseases
- Hepatocerebral Degenerations
- Hepatolenticular Degeneration Syndromes
- Kinnier Wilson Disease
- Kinnier-Wilson Diseases
- Lenticular Degeneration, Progressive
- Neurohepatic Degenerations
- Pseudoscleroses, Cerebral
- Pseudosclerosis, Cerebral
- Storage Disease, Copper
- Storage Diseases, Copper
- Syndrome, Hepatolenticular Degeneration
- Syndromes, Hepatolenticular Degeneration
- Westphal Strumpell Syndrome
- Westphal-Strumpell Syndromes
- Wilson Disease, Hepato-Neurologic
- Wilson Diseases, Hepato-Neurologic
- Wilsons Disease
- Hepatic Form of Wilson Disease
- Wilson Disease, Hepatic Form
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
lenticular refers to the lenticular nucleus in the brain
MeSH Record
History Note
1964(1963)
MeSH Hierarchy
Tree Numbers
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NLM Classification
WI 740
AMA Style
References
- National Library of Medicine. Hepatolenticular Degeneration. Medical Subject Headings (MeSH). 2026. Unique ID D006527. http://id.nlm.nih.gov/mesh/2026/D006527
- Hepatolenticular Degeneration. In: Wikipedia. https://en.wikipedia.org/wiki/Wilson%27s_disease
- Hepatolenticular Degeneration. In: Wikidata. https://www.wikidata.org/wiki/Q117121