Details of Disease | DrugMAP

General Information of Disease (ID: DIS5Z1NR)

Disease Name	Primary coenzyme Q10 deficiency 8
Synonyms	coenzyme Q10 deficiency, primary, type 8; coenzyme Q10 deficiency caused by mutation in COQ7; COQ10D8; primary coenzyme Q10 deficiency 8; COQ7 coenzyme Q10 deficiency; coenzyme Q10 deficiency, primary, 8
Definition	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DIS5Z1NR: Primary coenzyme Q10 deficiency 8
Disease Identifiers	MONDO ID MONDO_0014754 UMLS CUI C4225226 OMIM ID 616733 MedGen ID 908648

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
COQ7	OTSLAEUP	Strong	Autosomal recessive	[1]
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References

1	Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.