Spinocerebellar ataxia 19

Preferred Label : Spinocerebellar ataxia 19;

Symbol : SCA19;

CISMeF acronym : SCA19; SCA22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia 22; SCA22;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, SHAL-related subfamily, member 3 gene (KCND3, 605411.0001);

Prefixed ID : #607346;

Details

Origin ID

607346;

UMLS CUI

C1846367;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
CISMeF manual mappings
- Spinocerebellar ataxia type 19 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 19 [MeSH concept]
- Spinocerebellar ataxia 22 [MeSH concept]
- Spinocerebellar ataxia type 19 [ICD-11 More detail]
- Spinocerebellar ataxia type 19/22 [ORDO Disease]
- Spinocerebellar ataxia type 22 [ORDO Disease]
- spinocerebellar ataxia 19 [Disease (Nov.)]
- spinocerebellar ataxia 19 [MeSH Supplementary Concept]
- spinocerebellar ataxia 22 [Disease (Nov.)]
DO Cross reference
- spinocerebellar ataxia type 19/22 [DO Concept]
Genes related to phenotype
- Potassium voltage-gated channel, shal-related subfamily, member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebellar ataxia, slowly progressive [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Cogwheel rigidity [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Intermittent microsaccadic pursuits [HPO term]
- Limb ataxia [HPO term]
- Myoclonus [HPO term]
- Postural tremor [HPO term]
- Postural tremor, slow, irregular [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Slowly progressive [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 19/22 [ORDO Disease]
- Spinocerebellar ataxia type 22 [ORDO Disease]
See also inter- (CISMeF)
- Spinocerebellar Ataxia Type 19/22 [NCIt concept]
- Spinocerebellar ataxia type 22 [ICD-11 More detail]
- spinocerebellar ataxia 22 [MeSH Supplementary Concept]
- symbol withdrawn SCA19 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 19 [MeSH concept]
- Spinocerebellar ataxia type 19 [ICD-11 More detail]
- Spinocerebellar ataxia type 19 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia type 19/22 [ORDO Disease]
- spinocerebellar ataxia 19 [MeSH Supplementary Concept]
- spinocerebellar ataxia 19 [Disease (Nov.)]

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