Details of Disease

General Information of Disease (ID: DISIM44J)

Disease Name Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Synonyms coenzyme Q10 deficiency, primary, 6; COQ10D6; coenzyme Q10 deficiency, primary, type 6
Disease Hierarchy
DIS1HGDF: Coenzyme Q10 deficiency
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISIM44J: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Disease Identifiers
MONDO ID
MONDO_0013836
UMLS CUI
C3553349
OMIM ID
614650
MedGen ID
766263
Orphanet ID
280406

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ENTPD5 OTFH05B9 moderate CausalMutation [1]
COQ6 OTZWW1FX Strong Autosomal recessive [2]
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References

1 Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18.
2 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.