Details of Disease | DrugMAP

General Information of Disease (ID: DISQE1LU)

Disease Name	Recessive mitochondrial ataxia syndrome
Synonyms	MIRAS
Disease Hierarchy	DISZF45C: Autosomal recessive metabolic cerebellar ataxia DISXLIHB: Ataxia neuropathy spectrum DISQE1LU: Recessive mitochondrial ataxia syndrome
Disease Identifiers	MONDO ID MONDO_0019791 MESH ID C579922 UMLS CUI C4760799 MedGen ID 1683676 Orphanet ID 94125 SNOMED CT ID 782696001

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
POLG	OTDUCT04	Supportive	Autosomal recessive	[1]
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References

1	Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 2005 Apr 12;64(7):1204-8. doi: 10.1212/01.WNL.0000156516.77696.5A.