Spastic ataxia 3, autosomal recessive

Preferred Label : Spastic ataxia 3, autosomal recessive;

Symbol : SPAX3;

CISMeF acronym : ARSAL; SPAX3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL;

Description : For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methionyl-tRNA synthetase 2 gene (MARS2, 609728.0001);

Prefixed ID : #611390;

Details

Origin ID

611390;

UMLS CUI

C1969645;

Automatic exact mappings (from CISMeF team)
- methionyl-tRNA synthetase 2, mitochondrial [ORDO Gene]
- methionyl-tRNA synthetase 2, mitochondrial [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic ataxia with leukoencephalopathy [ORDO Disease]
- Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) [SNOMED CT concept]
- ataxia, spastic, 3, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 3, autosomal recessive [MeSH concept]
DO Cross reference
- spastic ataxia 3 [DO Concept]
Genes related to phenotype
- Methionyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Leukoencephalopathy [HPO term]
- Mild hearing impairment [HPO term]
- Scoliosis [HPO term]
- Spastic ataxia [HPO term]
- Spasticity [HPO term]
- Urinary urgency [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Autosomal recessive spastic ataxia with leukoencephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic ataxia with leukoencephalopathy [ORDO Disease]
- Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) [SNOMED CT concept]
- ataxia, spastic, 3, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 3, autosomal recessive [MeSH concept]

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