Details of Disease | DrugMAP

General Information of Disease (ID: DISX1BBD)

Disease Name	Combined oxidative phosphorylation defect type 30
Synonyms	combined oxidative phosphorylation deficiency caused by mutation in TRMT10C; COXPD30; combined oxidative phosphorylation deficiency 30; TRMT10C combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 30
Definition	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISX1BBD: Combined oxidative phosphorylation defect type 30
Disease Identifiers	MONDO ID MONDO_0014856 UMLS CUI C5567605 OMIM ID 616974 MedGen ID 1799028 Orphanet ID 478042 SNOMED CT ID 1172841001

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
TRMT10C	OT1L8Q48	Supportive	Autosomal recessive	[1]
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References

1	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28.