Details of Disease

General Information of Disease (ID: DISIO175)

Disease Name Sulfide quinone oxidoreductase deficiency
Synonyms SQORD; sulfide:quinone oxidoreductase deficiency
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DISIO175: Sulfide quinone oxidoreductase deficiency
Disease Identifiers
MONDO ID
MONDO_0030982
UMLS CUI
C5543168
OMIM ID
619221
MedGen ID
1780603

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
SQOR OTTLD0KB Strong Autosomal recessive [1]
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References

1 Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15.