Spinocerebellar ataxia 4

Preferred Label : Spinocerebellar ataxia 4;

Symbol : SCA4;

CISMeF acronym : SCA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy;

Description : For a discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). See also 16q22-linked spinocerebellar ataxia (SCA31; 117210), which is caused by an insertion within an intron of the BEAN gene (612051). Although both types of SCA map to the same region, they have different phenotypes. SCA4 with sensory axonal neuropathy has not been associated with any specific gene mutations, but Edener et al. (2011) excluded the insertion in the BEAN gene as causative for SCA4, indicating that SCA31 and SCA4 are not allelic disorders.;

Inheritance : Autosomal dominant;

Prefixed ID : #600223;

Details

Origin ID

600223;

UMLS CUI

C0752122;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 4 [ICD-11 More detail]
- Spinocerebellar ataxia type 4 [ORDO Disease]
- Spinocerebellar ataxia type 4 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 4 [Disease (Nov.)]
- spinocerebellar ataxia type 4 [DO Concept]
- spinocerebellar ataxia type 4 [MeSH concept]
DO Cross reference
- spinocerebellar ataxia type 4 [DO Concept]
Genes related to phenotype
- Zinc finger homeobox 3 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Hyporeflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Limb dysmetria [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Sensory neuropathy [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 4 [ORDO Disease]
- Spinocerebellar ataxia type 4 [ICD-11 More detail]
- Spinocerebellar ataxia type 4 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 4 [Disease (Nov.)]
- spinocerebellar ataxia type 4 [MeSH concept]
- spinocerebellar ataxia type 4 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients