Details of Disease

General Information of Disease (ID: DISQ3QRI)

Disease Name Combined oxidative phosphorylation deficiency 52
Synonyms COXPD52; combined oxidative phosphorylation deficiency 52
Disease Hierarchy
DISG5MW9: Combined oxidative phosphorylation deficiency
DISQ3QRI: Combined oxidative phosphorylation deficiency 52
Disease Identifiers
MONDO ID
MONDO_0030311
UMLS CUI
C5543592
OMIM ID
619386
MedGen ID
1780479

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
NFS1 OT0HUS40 Strong Autosomal recessive [1]
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References

1 RNA silencing of mitochondrial m-Nfs1 reduces Fe-S enzyme activity both in mitochondria and cytosol of mammalian cells. J Biol Chem. 2006 Sep 1;281(35):25398-406. doi: 10.1074/jbc.M602979200. Epub 2006 Jun 20.