Spastic ataxia 2, autosomal recessive

Preferred Label : Spastic ataxia 2, autosomal recessive;

Symbol : SPAX2;

CISMeF acronym : SPAX2;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2013). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 1C gene (KIF1C, 603060.0001);

Prefixed ID : #611302;

Détails

Origin ID

611302;

UMLS CUI

C1969796;

Automatic exact mappings (from CISMeF team)
- KIF1C wt Allele [NCIt concept]
- kinesin family member 1C [ORDO Gene]
- kinesin family member 1C [HGNC gene]
- symbol withdrawn SAX2 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal Recessive Spastic Ataxia-2 [NCIt concept]
- Autosomal spastic paraplegia type 58 [ORDO Disease]
- ataxia, spastic, 2, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 2, autosomal recessive [MeSH concept]
DO Cross reference
- spastic ataxia 2 [DO Concept]
Genes related to phenotype
- Kinesin family member 1c [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Fasciculations [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Head titubation [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Progressive [HPO term]
- Spastic ataxia [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Autosomal spastic paraplegia type 58 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Spastic Ataxia-2 [NCIt concept]
- ataxia, spastic, 2, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 2, autosomal recessive [MeSH concept]

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