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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/603516
http://purl.bioontology.org/ontology/OMIM/603516
|
|---|---|
| Preferred Name | SPINOCEREBELLAR ATAXIA 10 |
| Synonyms |
SCA10
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SCA10
|
|---|---|
| prefLabel | SPINOCEREBELLAR ATAXIA 10
|
| Gene Symbol |
SCA10
ATXN10
|
| Scope Statement | Normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats [MISCELLANEOUS]
Patients of Mexican or Amerindian origin have a complicated phenotype with additional neurologic features [MISCELLANEOUS]
Age at onset 14 to 44 years [MISCELLANEOUS]
Caused by a pentanucleotide repeat expansion (ATTCT)n in the ataxin 10 gene (ATXN10, 611150.0001). [MOLECULAR BASIS]
Patients of Brazilian origin have a pure cerebellar atrophy [MISCELLANEOUS]
Reduced penetrance [MISCELLANEOUS]
Genetic anticipation [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 22q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 603516
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1963674
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |