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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615386
http://purl.bioontology.org/ontology/OMIM/615386
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 |
| Synonyms |
SPARCA1
CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1
SCAR14
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SPARCA1
CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1
SCAR14
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
|
| Gene Symbol |
SCAR14
SPTBN2
SCA5
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the nonerythrocytic beta-spectrin 2 gene (SPTBN2, 604985.0004) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Two unrelated families have been reported (last curated August 2013) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615386
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4706415
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |