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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/200150
http://purl.bioontology.org/ontology/OMIM/200150
|
|---|---|
| Preferred Name | CHOREOACANTHOCYTOSIS |
| Synonyms |
ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER
CHAC
CHOREA-ACANTHOCYTOSIS
NEUROACANTHOCYTOSIS, FORMERLY
LEVINE-CRITCHLEY SYNDROME, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER
CHAC
CHOREA-ACANTHOCYTOSIS
NEUROACANTHOCYTOSIS, FORMERLY
LEVINE-CRITCHLEY SYNDROME, FORMERLY
|
|---|---|
| prefLabel | CHOREOACANTHOCYTOSIS
|
| Gene Symbol |
CHAC
VPS13A
|
| Scope Statement | Neurologic findings closely resemble those of Huntington disease (HD, 143100) [MISCELLANEOUS]
Clinical variability [MISCELLANEOUS]
Age of onset 23-59 years [MISCELLANEOUS]
Caused by mutation in the vacuolar protein sorting 13A gene (VPS13A, 605978.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 200150
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0393576
|
| Moved from | 100500
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |