Details of Disease

General Information of Disease (ID: DISYVXRX)

Disease Name Autosomal dominant sensory ataxia 1
Synonyms ataxia, sensory, 1, autosomal dominant; Adsa; RNF170 hereditary ataxia; ADSA; SNAX1; hereditary ataxia caused by mutation in RNF170
Definition Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.
Disease Hierarchy
DIS6JNI3: Hereditary ataxia
DISSMCYQ: Sensory ataxia
DISYVXRX: Autosomal dominant sensory ataxia 1
Disease Identifiers
MONDO ID
MONDO_0012166
UMLS CUI
C1837015
OMIM ID
608984
MedGen ID
332346

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RNF170 OT2O6F4D Strong Autosomal dominant [1]
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References

1 A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28.