Details of Disease | DrugMAP

General Information of Disease (ID: DIS775XU)

Disease Name	Combined oxidative phosphorylation defect type 14
Synonyms	combined oxidative phosphorylation deficiency 14; combined oxidative phosphorylation deficiency type 14; FARS2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency caused by mutation in FARS2; COXPD14
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS775XU: Combined oxidative phosphorylation defect type 14
Disease Identifiers	MONDO ID MONDO_0013986 UMLS CUI C4755312 OMIM ID 614946 MedGen ID 1663069 Orphanet ID 319519 SNOMED CT ID 778065005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FARS2	DE0WGR8	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FARS2	OTXAK6F0	Strong	Autosomal recessive	[1]
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References

1	Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012 Apr;49(4):234-41. doi: 10.1136/jmedgenet-2012-100836.