Details of Disease | DrugMAP

General Information of Disease (ID: DISG5MW9)

Disease Name	Combined oxidative phosphorylation deficiency
Definition	A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.
Disease Hierarchy	DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISG5MW9: Combined oxidative phosphorylation deficiency
Disease Identifiers	MONDO ID MONDO_0000732 UMLS CUI C4540031 MedGen ID 1626645

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
AARS2	OTOB0KSG	Strong	Biomarker	[1]
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References

1	Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.