Spinocerebellar ataxia 13

Preferred Label : Spinocerebellar ataxia 13;

Symbol : SCA13;

CISMeF acronym : SCA13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, Shaw-related subfamily, member 3 gene (KCNC3, 176264.0001);

Prefixed ID : #605259;

Détails

Origin ID

605259;

UMLS CUI

C1854488;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 13 [MeSH concept]
- Spinocerebellar ataxia type 13 [ICD-11 More detail]
- Spinocerebellar ataxia type 13 [ORDO Disease]
- Spinocerebellar ataxia type 13 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 13 [Disease (Nov.)]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 13 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 13 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, shaw-related subfamily, member 3 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Jerky ocular pursuit movements [HPO term]
- Limb ataxia [HPO term]
- Limb dysmetria [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Slowly progressive [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 13 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 13 [MeSH concept]
- Spinocerebellar ataxia type 13 [ORDO Disease]
- Spinocerebellar ataxia type 13 [ICD-11 More detail]
- Spinocerebellar ataxia type 13 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 13 [MeSH Supplementary Concept]
- spinocerebellar ataxia 13 [Disease (Nov.)]
- spinocerebellar ataxia type 13 [DO Concept]

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