Spinocerebellar ataxia 6

Preferred Label : Spinocerebellar ataxia 6;

Symbol : SCA6;

CISMeF acronym : SCA6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0002); Caused by expanded CAG trinucleotide repeats in the alpha-1A calcium channel subunit gene (CACNA1A, 601011.0007);

Prefixed ID : #183086;

Details

Origin ID

183086;

UMLS CUI

C0752124;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 6 [NCIt concept]
- Spinocerebellar ataxia type 6 [ICD-11 More detail]
- Spinocerebellar ataxia type 6 [ORDO Disease]
- 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]
DO Cross reference
- spinocerebellar ataxia type 6 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
HPO term(s)
- Abnormal vestibulo-ocular reflex [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Genetic anticipation [HPO term]
- Impaired smooth pursuit [HPO term]
- Migraine [HPO term]
- Progressive [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Sensory neuropathy [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 6 [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn SCA6 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 6 [NCIt concept]
- 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]

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