Details of Disease

General Information of Disease (ID: DIS1HGDF)

• Disease Name: Coenzyme Q10 deficiency
• Synonyms: CoQ10 deficiency, primary; CoQ10 deficiency; coenzyme Q10 deficiency, primary; coenzyme Q10 deficiency disease
• Definition: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS71G5H: Metabolic disorder
  DISK7IP8: Mitochondrial oxidative phosphorylation disorder
  DIS1HGDF: Coenzyme Q10 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0018151
  MESH ID: C564403
  UMLS CUI: C1843920
  MedGen ID: 334528
  Orphanet ID: 35656
  SNOMED CT ID: 724575009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COQ4	OTIU7FAZ	Disputed	Genetic Variation	[1]
PDSS2	OTEOQBMX	Disputed	Genetic Variation	[2]
SQOR	OTTLD0KB	Disputed	Altered Expression	[3]
ANO10	OTG3BNOU	Strong	Genetic Variation	[4]
APTX	OTPAS5G8	Strong	Genetic Variation	[5]
COQ2	OTDAKEY4	Strong	Genetic Variation	[6]
COQ6	OTZWW1FX	Strong	Genetic Variation	[7]
COQ7	OTSLAEUP	Strong	Genetic Variation	[8]
COQ8B	OTBY50BD	Strong	Genetic Variation	[7]
COQ9	OTM2T1FI	Strong	Genetic Variation	[9]
ETFDH	OTOSKSFH	Strong	Genetic Variation	[10]
MPV17	OT579DMU	Strong	Genetic Variation	[11]
PDSS1	OTXGVHAB	Strong	Genetic Variation	[12]
PIK3C2A	OTFBU4GD	Strong	Altered Expression	[13]
TK2	OTS1V4XB	Strong	Genetic Variation	[14]
COQ8A	OT1ETSA2	Definitive	Autosomal recessive	[15]

References

• [1] Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.Mol Genet Metab Rep. 2018 Sep 13;17:19-21. doi: 10.1016/j.ymgmr.2018.09.002. eCollection 2018 Dec.
• [2] Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Pediatr Nephrol. 2018 Mar;33(3):439-446. doi: 10.1007/s00467-017-3814-1. Epub 2017 Oct 14.
• [3] CoQ(10) supplementation rescues nephrotic syndrome through normalization of H(2)S oxidation pathway.Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6.
• [4] ANO10 mutations cause ataxia and coenzyme Q deficiency.J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.
• [5] Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.Neurology. 2005 Feb 8;64(3):539-41. doi: 10.1212/01.WNL.0000150588.75281.58.
• [6] A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.BMC Med Genet. 2019 Oct 28;20(1):165. doi: 10.1186/s12881-019-0898-4.
• [7] Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22.
• [8] 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.
• [9] A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245.
• [10] The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.Brain. 2007 Aug;130(Pt 8):2037-44. doi: 10.1093/brain/awm054. Epub 2007 Apr 5.
• [11] Mitochondrial myopathies.Curr Opin Rheumatol. 2006 Nov;18(6):636-41. doi: 10.1097/01.bor.0000245729.17759.f2.
• [12] 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.
• [13] Effect of coenzyme Q on serum levels of creatine phosphokinase in preclinical muscular dystrophy.Proc Natl Acad Sci U S A. 1974 May;71(5):2098-102. doi: 10.1073/pnas.71.5.2098.
• [14] A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.Eur J Paediatr Neurol. 2008 Jul;12(4):309-13. doi: 10.1016/j.ejpn.2007.09.005. Epub 2007 Oct 22.
• [15] CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. doi: 10.1016/j.ajhg.2007.12.022.