Details of Disease | DrugMAP

General Information of Disease (ID: DISUGLZ8)

Disease Name	Combined oxidative phosphorylation defect type 25
Synonyms	combined oxidative phosphorylation deficiency 25; combined oxidative phosphorylation deficiency type 25; MARS2 combined oxidative phosphorylation deficiency; COXPD25; combined oxidative phosphorylation deficiency caused by mutation in MARS2
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISUGLZ8: Combined oxidative phosphorylation defect type 25
Disease Identifiers	MONDO ID MONDO_0014636 UMLS CUI C5567742 OMIM ID 616430 MedGen ID 1799165 Orphanet ID 447954 SNOMED CT ID 1173035001

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
MARS2	DEEH5Y9	Supportive	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
MARS2	OTZDVGVJ	Supportive	Autosomal recessive	[1]
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References

1	Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat. 2015 Jun;36(6):587-92. doi: 10.1002/humu.22781. Epub 2015 Apr 8.