Details of Disease | DrugMAP

General Information of Disease (ID: DISD9V13)

Disease Name	Coenzyme Q10 deficiency, primary, 1
Synonyms	ubiquinone deficiency 1; Coq10 deficiency, primary, 1; COQ10D1; CoQ deficiency 1; coenzyme Q deficiency 1; coenzyme Q10 deficiency, primary, type 1; coenzyme Q10 deficiency caused by mutation in COQ2; coenzyme Q10 deficiency, primary, 1; COQ2 coenzyme Q10 deficiency
Definition	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
Disease Hierarchy	DIS1HGDF: Coenzyme Q10 deficiency DISD9V13: Coenzyme Q10 deficiency, primary, 1
Disease Identifiers	MONDO ID MONDO_0011829 UMLS CUI C3551954 OMIM ID 607426 MedGen ID 764868

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COQ2	OTDAKEY4	Definitive	Autosomal recessive	[1]
COQ8A	OT1ETSA2	Definitive	Autosomal recessive	[2]
COQ9	OTM2T1FI	Definitive	Autosomal recessive	[3]
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References

1	Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007 Mar;117(3):765-72. doi: 10.1172/JCI29089.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3	A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16.