Details of Disease | DrugMAP

General Information of Disease (ID: DIS8I7AX)

Disease Name	Combined oxidative phosphorylation defect type 24
Synonyms	combined oxidative phosphorylation deficiency 24; combined oxidative phosphorylation deficiency caused by mutation in NARS2; NARS2 combined oxidative phosphorylation deficiency; COXPD24; combined oxidative phosphorylation deficiency type 24
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DIS8I7AX: Combined oxidative phosphorylation defect type 24
Disease Identifiers	MONDO ID MONDO_0014547 UMLS CUI C4015643 OMIM ID 616239 MedGen ID 864080 Orphanet ID 444458 SNOMED CT ID 1222680009

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
NARS2	OTL5X535	Strong	Autosomal recessive	[1]
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References

1	Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728.