Details of Disease

General Information of Disease (ID: DIS343P6)

Disease Name Autosomal recessive ataxia due to PEX10 deficiency
Synonyms mild peroxismal disorder due to PEX10 deficiency
Disease Hierarchy
DISZF45C: Autosomal recessive metabolic cerebellar ataxia
DIS343P6: Autosomal recessive ataxia due to PEX10 deficiency
Disease Identifiers
MONDO ID
MONDO_0016614
UMLS CUI
C5679614
MedGen ID
1843173
Orphanet ID
247815

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
PEX10 OTOCZCFA Supportive Autosomal recessive [1]
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References

1 Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035.