Spinocerebellar ataxia, X-linked 1

Preferred Label : Spinocerebellar ataxia, X-linked 1;

Symbol : SCAX1;

CISMeF acronym : SCAX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OPCAX; Opca, X-linked; Olivopontocerebellar atrophy, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the plasma membrane Ca(2 )-transporting ATPase 3 gene (ATP2B3, 300014.0001);

Prefixed ID : #302500;

Details

Origin ID

302500;

UMLS CUI

C0796205;

Automatic exact mappings (from CISMeF team)
- ATP2B3 wt Allele [NCIt concept]
- X-linked progressive cerebellar ataxia [ORDO Disease]
- X-linked spinocerebellar ataxia 1 [DO Concept]
- symbol withdrawn SCAX1 [HGNC gene]
Currated CISMeF NLP mapping
- spinocerebellar ataxia, X-Linked 1 [MeSH concept]
- spinocerebellar ataxia, X-Linked 1 [MeSH Supplementary Concept]
DO Cross reference
- X-linked spinocerebellar ataxia 1 [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, plasma membrane, 3 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Ataxia [HPO term]
- Cerebellar atrophy [HPO term]
- Congenital onset [HPO term]
- Difficulty standing [HPO term]
- Dysarthria [HPO term]
- Intention tremor [HPO term]
- Juvenile onset [HPO term]
- Motor delay [HPO term]
- Neonatal hypotonia [HPO term]
- Nonprogressive [HPO term]
- Nystagmus [HPO term]
- Slow saccadic eye movements [HPO term]
- Strabismus [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
ORDO concept(s)
- X-linked non progressive cerebellar ataxia [ORDO Disease]
- X-linked progressive cerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spinocerebellar ataxia, X-Linked 1 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 1 [MeSH concept]

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