Spinocerebellar ataxia 20

Preferred Label : Spinocerebellar ataxia 20;

Symbol : SCA20;

CISMeF acronym : SCA20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 11q12 duplication syndrome, 260-kb; Spinocerebellar ataxia with dysphonia; Spinocerebellar ataxia with spasmodic cough;

Description : SCA20 is an autosomal dominant adult-onset disorder characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia (summary by Knight et al., 2004). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a 260-kb duplication on chromosome 11q12.2-11q12.3.;

Prefixed ID : #608687;

Details

Origin ID

608687;

UMLS CUI

C1837541;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
CISMeF manual mappings
- Spinocerebellar ataxia type 20 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 20 [MeSH concept]
- Spinocerebellar ataxia type 20 [ICD-11 More detail]
- Spinocerebellar ataxia type 20 [ORDO Disease]
- spinocerebellar ataxia 20 [Disease (Nov.)]
- spinocerebellar ataxia 20 [MeSH Supplementary Concept]
- spinocerebellar ataxia 20 [ORDO Gene]
- spinocerebellar ataxia type 20 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 20 [DO Concept]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Action tremor [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphonia [HPO term]
- Gait ataxia [HPO term]
- High pitched voice [HPO term]
- Hypermetric saccades [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Palatal myoclonus [HPO term]
- Postural tremor [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 20 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 20 [MeSH concept]
- Spinocerebellar ataxia type 20 [ORDO Disease]
- Spinocerebellar ataxia type 20 [ICD-11 More detail]
- Spinocerebellar ataxia type 20 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 20 [MeSH Supplementary Concept]
- spinocerebellar ataxia 20 [ORDO Gene]
- spinocerebellar ataxia 20 [Disease (Nov.)]
- spinocerebellar ataxia type 20 [DO Concept]

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