Details of Disease

General Information of Disease (ID: DISF3V0C)

Disease Name Spastic ataxia 9, autosomal recessive
Synonyms SPAX9; SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
Disease Hierarchy
DISIRRA9: Spastic ataxia
DISF3V0C: Spastic ataxia 9, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0032753
UMLS CUI
C5193100
OMIM ID
618438
MedGen ID
1680026

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
CHP1 OTHTXN1A Limited Unknown [1]
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References

1 Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.