Spinocerebellar ataxia 5

Preferred Label : Spinocerebellar ataxia 5;

Symbol : SCA5;

CISMeF acronym : SCA5;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nonerythrocytic beta 2 spectrin gene (SPTBN2, 604985.0001);

Prefixed ID : #600224;

Details

Origin ID

600224;

UMLS CUI

C0752123;

Automatic exact mappings (from CISMeF team)
- spinocerebellar ataxias [MeSH Descriptor]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 5 [ICD-11 More detail]
- Spinocerebellar ataxia type 5 [ORDO Disease]
- Spinocerebellar ataxia type 5 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 5 [Disease (Nov.)]
- spinocerebellar ataxia type 5 [DO Concept]
- spinocerebellar ataxia type 5 [MeSH concept]
DO Cross reference
- spinocerebellar ataxia type 5 [DO Concept]
Genes related to phenotype
- Spectrin, beta, nonerythrocytic, 2 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Facial myokymia [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Impaired smooth pursuit [HPO term]
- Impaired vibratory sensation [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Intention tremor [HPO term]
- Limb ataxia [HPO term]
- Limb incoordination [HPO term]
- Onset [HPO term]
- Slowly progressive [HPO term]
- Upper motor neuron dysfunction [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 5 [ORDO Disease]
See also inter- (CISMeF)
- SPTBN2 wt Allele [NCIt concept]
- Spectrin Beta Chain, Non-Erythrocytic 2 [NCIt concept]
- symbol withdrawn SCA5 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 5 [ORDO Disease]
- Spinocerebellar ataxia type 5 [ICD-11 More detail]
- Spinocerebellar ataxia type 5 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 5 [Disease (Nov.)]
- spinocerebellar ataxia type 5 [MeSH concept]
- spinocerebellar ataxia type 5 [DO Concept]

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