Spinocerebellar Ataxia Type 6

Preferred Label : Spinocerebellar Ataxia Type 6;

NCIt synonyms : SCA6;

NCIt definition : An autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60.;

Details

Origin ID

C142838;

UMLS CUI

C0752124;

Automatic exact mappings (from CISMeF team)
- calcium voltage-gated channel subunit alpha1 A [ORDO Gene]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 6 [OMIM Phenotype]
- Spinocerebellar ataxia type 6 [ORDO Disease]
- Spinocerebellar ataxia type 6 [ICD-11 More detail]
- Spinocerebellar ataxia type 6 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 6 [Disease (Nov.)]
- spinocerebellar ataxia type 6 [MeSH concept]
- spinocerebellar ataxia type 6 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 6 [OMIM Phenotype]
- Spinocerebellar ataxia type 6 [ORDO Disease]
- Spinocerebellar ataxia type 6 [ICD-11 More detail]
- Spinocerebellar ataxia type 6 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 6 [Disease (Nov.)]
- spinocerebellar ataxia type 6 [DO Concept]
- spinocerebellar ataxia type 6 [MeSH concept]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CACNA1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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