Details of Disease

General Information of Disease (ID: DIS6RJZV)

Disease Name Combined oxidative phosphorylation defect type 26
Synonyms
combined oxidative phosphorylation deficiency 26; combined oxidative phosphorylation deficiency caused by mutation in TRMT5; TRMT5 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 26; COXPD26
Definition Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DIS6RJZV: Combined oxidative phosphorylation defect type 26
Disease Identifiers
MONDO ID
MONDO_0014684
UMLS CUI
C5567741
OMIM ID
616539
MedGen ID
1799164
Orphanet ID
477684
SNOMED CT ID
1173034002

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
TRMT5 OTOAZBPD Strong Autosomal recessive [1]
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References

1 TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.