| H00999 | |
| H number | H00999 |
| Name | Coenzyme Q10 deficiency |
| Description | Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary CoQ10 deficiency. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (COQ10D1) COQ2 [HSA:27235] [KO:K06125] (COQ10D2) PDSS1 [HSA:23590] [KO:K12504] (COQ10D3) PDSS2 [HSA:57107] [KO:K12505] (COQ10D4) COQ8A [HSA:56997] [KO:K08869] (COQ10D5) COQ9 [HSA:57017] [KO:K18587] (COQ10D6) COQ6 [HSA:51004] [KO:K06126] (COQ10D7) COQ4 [HSA:51117] [KO:K18586] (COQ10D8) COQ7 [HSA:10229] [KO:K06134] (COQ10D9) COQ5 [HSA:84274] [KO:K06127] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.22 ICD-10: G11.1 MeSH: C564403 OMIM: 607426 614651 614652 612016 614654 614650 616276 616733 619028 |
| Reference | PMID:19966907 AUTHORS Spindler M, Beal MF, Henchcliffe C TITLE Coenzyme Q10 effects in neurodegenerative disease. JOURNAL Neuropsychiatr Dis Treat 5:597-610 (2009) DOI:10.2147/ndt.s5212 PMID:16400613 (COQ10D1) AUTHORS Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M TITLE A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. JOURNAL Am J Hum Genet 78:345-9 (2006) DOI:10.1086/500092 PMID:17332895 (COQ10D2) AUTHORS Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rotig A. TITLE Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. JOURNAL J Clin Invest 117:765-72 (2007) DOI:10.1172/JCI29089 PMID:17186472 (COQ10D3) AUTHORS Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M TITLE Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. JOURNAL Am J Hum Genet 79:1125-9 (2006) DOI:10.1086/510023 PMID:18319072 (COQ10D4) AUTHORS Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rotig A TITLE CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. JOURNAL Am J Hum Genet 82:623-30 (2008) DOI:10.1016/j.ajhg.2007.12.022 PMID:19375058 (COQ10D5) AUTHORS Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S TITLE A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. JOURNAL Am J Hum Genet 84:558-66 (2009) DOI:10.1016/j.ajhg.2009.03.018 PMID:21540551 (COQ10D6) AUTHORS Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rotig A, Nurnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Muller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocana C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nurnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F TITLE COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. JOURNAL J Clin Invest 121:2013-24 (2011) DOI:10.1172/JCI45693 PMID:25658047 (COQ10D7) AUTHORS Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Burgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D TITLE COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. JOURNAL Am J Hum Genet 96:309-17 (2015) DOI:10.1016/j.ajhg.2014.12.023 PMID:26084283 (COQ10D8) AUTHORS Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterstrom RH, von Dobeln U, Wredenberg A, Wedell A TITLE Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. JOURNAL J Med Genet 52:779-83 (2015) DOI:10.1136/jmedgenet-2015-102986 PMID:29044765 (COQ10D9) AUTHORS Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y TITLE A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. JOURNAL Hum Mutat 39:69-79 (2018) DOI:10.1002/humu.23345 |