Details of Disease

General Information of Disease (ID: DISS59GI)

Disease Name Combined oxidative phosphorylation deficiency 44
Synonyms combined oxidative phosphorylation deficiency 44; COXPD44; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISS59GI: Combined oxidative phosphorylation deficiency 44
Disease Identifiers
MONDO ID
MONDO_0030020
UMLS CUI
C5394293
OMIM ID
618855
MedGen ID
1718899

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
FASTKD2 OTD635WX Strong Autosomal recessive [1]
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References

1 FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.