Autosomal Recessive Spastic Ataxia-2

Preferred Label : Autosomal Recessive Spastic Ataxia-2;

NCIt synonyms : SPG58; SPAX2; Autosomal Spastic Paraplegia Type 58;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs.;

Details

Origin ID

C177252;

UMLS CUI

C1969796;

Automatic exact mappings (from CISMeF team)
- kinesin family member 1C [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal spastic paraplegia type 58 [ORDO Disease]
- Spastic ataxia 2, autosomal recessive [OMIM Phenotype]
- ataxia, spastic, 2, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 2, autosomal recessive [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic ataxia 2, autosomal recessive [OMIM Phenotype]
- ataxia, spastic, 2, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 2, autosomal recessive [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- KIF1C Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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