Spinocerebellar ataxia, autosomal recessive 2

Preferred Label : Spinocerebellar ataxia, autosomal recessive 2;

Symbol : SCAR2;

CISMeF acronym : CPD3; SCAR2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPD3; Cpd III; Cerebelloparenchymal disorder III; Cerebellar granular cell hypoplasia and mental retardation, congenital; Cerebellar hypoplasia, nonprogressive norman type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial processing peptidase, alpha gene (PMPCA, 613036.0001);

Prefixed ID : #213200;

Détails

Origin ID

213200;

UMLS CUI

C1859298;

Automatic exact mappings (from CISMeF team)
- Citrate Phosphate Dextrose [NCIt concept]
- WASF2 wt Allele [NCIt concept]
- WASP family member 2 [HGNC gene]
- spinocerebellar ataxias [MeSH Descriptor]
- symbol withdrawn SCAR2 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive cerebelloparenchymal disorder type 3 [ORDO Disease]
- Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 2 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 2 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 2 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 2 [DO Concept]
Genes related to phenotype
- Peptidase, mitochondrial processing, alpha [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Limb ataxia [HPO term]
- Nonprogressive [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Saccadic smooth pursuit [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive cerebelloparenchymal disorder type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebelloparenchymal disorder type 3 [ORDO Disease]
- Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 2 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 2 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 2 [MeSH concept]

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