Spinocerebellar ataxia 8

Preferred Label : Spinocerebellar ataxia 8;

Symbol : SCA8;

CISMeF acronym : SCA8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the ataxin 8 gene (ATXN8, 613289.0001); Caused by a trinucleotide repeat expansion (CTG)n in the ataxin 8 opposite strand gene (ATXN8OS, 603680.0001);

Prefixed ID : #608768;

Détails

Origin ID

608768;

UMLS CUI

C1837454;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 8 [MeSH concept]
- Spinocerebellar ataxia type 8 [ICD-11 More detail]
- Spinocerebellar ataxia type 8 [ORDO Disease]
- Spinocerebellar ataxia type 8 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 8 [Disease (Nov.)]
- spinocerebellar ataxia 8 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 8 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 8 [DO Concept]
Genes related to phenotype
- Ataxin 8 [OMIM gene]
- Ataxin 8 opposite strand [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Dysphagia [HPO term]
- Impaired smooth pursuit [HPO term]
- Incoordination [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Nystagmus [HPO term]
- Peripheral neuropathy [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Sensory neuropathy [HPO term]
- Slow saccadic eye movements [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 8 [MeSH concept]
- Spinocerebellar ataxia type 8 [ORDO Disease]
- Spinocerebellar ataxia type 8 [ICD-11 More detail]
- Spinocerebellar ataxia type 8 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 8 [MeSH Supplementary Concept]
- spinocerebellar ataxia 8 [Disease (Nov.)]
- spinocerebellar ataxia type 8 [DO Concept]

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