Ataxia, sensory, 1, autosomal dominant

Preferred Label : Ataxia, sensory, 1, autosomal dominant;

Symbol : SNAX1;

CISMeF acronym : ADSA; SNAX1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ADSA;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ring finger protein 170 gene (RNF170, 614649.0001);

Prefixed ID : #608984;

Details

Origin ID

608984;

UMLS CUI

C1837015;

Automatic exact mappings (from CISMeF team)
- ataxia, sensory, autosomal dominant [MeSH Supplementary Concept]
- ataxia, sensory, autosomal dominant [MeSH concept]
- autosomal dominant sensory ataxia 1 [DO Concept]
- symbol withdrawn SNAX1 [HGNC gene]
DO Cross reference
- autosomal dominant sensory ataxia 1 [DO Concept]
Genes related to phenotype
- Ring finger protein 170 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal sensation loss [HPO term]
- Distal sensory impairment of all modalities [HPO term]
- Gait instability, worse in the dark [HPO term]
- Hyporeflexia [HPO term]
- Positive Romberg sign [HPO term]
- Sensory ataxia [HPO term]
Not associated HPO term(s)
- Abnormal cerebellum morphology [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ataxia, sensory, autosomal dominant [MeSH Supplementary Concept]
- ataxia, sensory, autosomal dominant [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients