hepatolenticular degeneration

Preferred Label : hepatolenticular degeneration;

MeSH 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.;

MeSH synonym : wilson disease; degeneration, progressive lenticular; westphal-strumpell syndrome; degeneration, hepatolenticular; pseudosclerosis, cerebral; neurohepatic degeneration; progressive lenticular degeneration; kinnier wilson disease; cerebral pseudoscleroses; wilsons disease; degeneration, hepatocerebral; hepato-neurologic wilson diseases; cerebral pseudosclerosis; pseudosclerosis; wilson's disease; kinnier-wilson disease; degenerations, neurohepatic; pseudoscleroses, cerebral; westphal strumpell syndrome; hepato neurologic wilson disease; wilson disease, hepato-neurologic; wilson diseases, hepato-neurologic; hepatocerebral degeneration; degenerations, hepatocerebral; degeneration, neurohepatic; neurohepatic degenerations; hepato-neurologic wilson disease; diseases, hepato-neurologic wilson; westphal-strumpell syndromes; hepatocerebral degenerations; diseases, kinnier-wilson; kinnier-wilson diseases; lenticular degeneration, progressive; hepatolenticular degeneration syndrome; copper storage disease; Degeneration Syndrome, Hepatolenticular; Degeneration Syndromes, Hepatolenticular; Hepatolenticular Degeneration Syndromes; Syndrome, Hepatolenticular Degeneration; Syndromes, Hepatolenticular Degeneration; Copper Storage Diseases; Disease, Copper Storage; Diseases, Copper Storage; Storage Disease, Copper; Storage Diseases, Copper;

MeSH hyponym : hepatic form of wilson disease; Wilson Disease, Hepatic Form;

MeSH annotation : lenticular refers to the lenticular nucleus in the brain;

Wikipedia link : https://en.wikipedia.org/wiki/Wilson's disease;

Details

Origin ID

D006527;

UMLS CUI

C0019202;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ATP7B wt Allele [NCIt concept]
- ATPase copper transporting beta [ORDO Gene]
- ATPase copper transporting beta [HGNC gene]
- Dermatitis exfoliative [MedDRA Preferred Term]
- Wilson-Brocq's disease [MedDRA LLT]
- congenital anomaly digestive system [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Cerebral pseudosclerosis (disorder) [SNOMED CT concept]
- Disorders of copper metabolism [ICD-10 Sub-category]
- Disorders of copper metabolism [ICD-10 Sub-category (who)]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Hepatolenticular Degeneration [NCIt concept]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [DO Concept]
- Wilson disease [Disease (Nov.)]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson's disease [Blood Transfusion thesaurus concept]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
DO Cross reference
- Wilson disease [DO Concept]
Manual NTBT mappings (CISMeF)
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
- Rare neurologic disease with psychiatric involvement [ORDO Disease]
- Supranuclear eye movement disorder [ORDO Disease]
MedlinePlus topic(s)
- wilson disease [MedlinePlus Topic]
ORDO relation(s)
- Wilson disease [ORDO Disease]
Record concept(s)
- hepatic form of wilson disease [MeSH concept]
- hepatolenticular degeneration [MeSH concept]
Related MeSH Supplementary Concept(s)
- Copper-Overload cirrhosis [MeSH Supplementary Concept]
- westphal disease [MeSH Supplementary Concept]
See also
- Copper-transporting ATPases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral pseudosclerosis (disorder) [SNOMED CT concept]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Hepatolenticular Degeneration [NCIt concept]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson disease [DO Concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [Disease (Nov.)]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- disorders of copper metabolism [Error of metabolism category]

Keyword's position in hierarchy(ies) :

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