Details of Disease

General Information of Disease (ID: DISCKVY1)

Disease Name Combined oxidative phosphorylation defect type 23
Synonyms
combined oxidative phosphorylation deficiency 23; combined oxidative phosphorylation deficiency caused by mutation in GTPBP3; GTPBP3 combined oxidative phosphorylation deficiency; COXPD23; combined oxidative phosphorylation deficiency type 23
Definition Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISCKVY1: Combined oxidative phosphorylation defect type 23
Disease Identifiers
MONDO ID
MONDO_0014525
UMLS CUI
C5567743
OMIM ID
616198
MedGen ID
1799166
Orphanet ID
444013
SNOMED CT ID
1173036000

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
GTPBP3 OTU52TXX Strong Autosomal recessive [1]
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References

1 Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.