Details of Disease | DrugMAP

General Information of Disease (ID: DISVDTZV)

Disease Name	Combined oxidative phosphorylation defect type 20
Synonyms	combined oxidative phosphorylation deficiency 20; combined oxidative phosphorylation deficiency caused by mutation in VARS2; COXPD20; VARS2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 20
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISVDTZV: Combined oxidative phosphorylation defect type 20
Disease Identifiers	MONDO ID MONDO_0014397 UMLS CUI C4014660 OMIM ID 615917 MedGen ID 863097 Orphanet ID 420728

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VARS1	OTB1MIVR	Supportive	Autosomal recessive	[1]
VARS2	OTWXKTL0	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
VARS1	DEUPF5K	Supportive	Autosomal recessive	[1]
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References

1	VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.