Spinocerebellar ataxia 26

Preferred Label : Spinocerebellar ataxia 26;

Symbol : SCA26;

CISMeF acronym : SCA26;

Type : Phenotype, molecular basis known;

Description : For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the eukaryotic translation elongation factor-2 gene (EEF2, 130610.0001);

Prefixed ID : #609306;

Details

Origin ID

609306;

UMLS CUI

C1836395;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 26 [MeSH concept]
- Spinocerebellar ataxia type 26 [ICD-11 More detail]
- Spinocerebellar ataxia type 26 [ORDO Disease]
- Spinocerebellar ataxia type 26 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 26 [Disease (Nov.)]
- spinocerebellar ataxia 26 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 26 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 26 [DO Concept]
Genes related to phenotype
- Eukaryotic translation elongation factor 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Gait ataxia [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Incoordination [HPO term]
- Limb ataxia [HPO term]
- Limb incoordination [HPO term]
- Nystagmus [HPO term]
- Slowly progressive [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia 26 [ORDO Gene]
- Spinocerebellar ataxia type 26 [ORDO Disease]
See also inter- (CISMeF)
- EEF2 wt Allele [NCIt concept]
- Spinocerebellar ataxia 26 [ORDO Gene]
- spinocerebellar ataxia 26 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 26 [MeSH concept]
- Spinocerebellar ataxia 26 [ORDO Gene]
- Spinocerebellar ataxia type 26 [ORDO Disease]
- Spinocerebellar ataxia type 26 [ICD-11 More detail]
- Spinocerebellar ataxia type 26 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 26 [MeSH Supplementary Concept]
- spinocerebellar ataxia 26 [Disease (Nov.)]
- spinocerebellar ataxia type 26 [DO Concept]

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