Spinocerebellar ataxia 31

Preferred Label : Spinocerebellar ataxia 31;

Symbol : SCA31;

CISMeF acronym : SCA31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, 16q22-linked;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a 2.5- to 3.8-kb insertion containing pentanucleotide expansion repeats including (TGGAA)n within an intron of the brain-expressed, associated with NEDD4 gene (BEAN, 612051.0001);

Prefixed ID : #117210;

Détails

Origin ID

117210;

UMLS CUI

C1861736;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 31 [NCIt concept]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 [ORDO Disease]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
- spinocerebellar ataxia 31 [MeSH concept]
- spinocerebellar ataxia 31 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 31 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 31 [DO Concept]
Genes related to phenotype
- Brain-expressed, associated with nedd4, 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar ataxia, slowly progressive [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Late onset [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 31 [ORDO Disease]
See also inter- (CISMeF)
- symbol withdrawn SCA31 [HGNC gene]
- thymidine kinase 2 [ORDO Gene]
- thymidine kinase 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 31 [NCIt concept]
- Spinocerebellar ataxia type 31 [ORDO Disease]
- Spinocerebellar ataxia type 31 [ICD-11 More detail]
- Spinocerebellar ataxia type 31 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 31 [MeSH Supplementary Concept]
- spinocerebellar ataxia 31 [MeSH concept]
- spinocerebellar ataxia 31 [Disease (Nov.)]
- spinocerebellar ataxia type 31 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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