| H00999 | |
| H番号 | H00999 |
| 名称 | コエンザイムQ10欠損症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.22 ICD-10: G11.1 MeSH: C564403 OMIM: 607426 614651 614652 612016 614654 614650 616276 616733 619028 |
| 文献 | PMID:19966907 著者 Spindler M, Beal MF, Henchcliffe C タイトル Coenzyme Q10 effects in neurodegenerative disease. 雑誌 Neuropsychiatr Dis Treat 5:597-610 (2009) DOI:10.2147/ndt.s5212 PMID:16400613 (COQ10D1) 著者 Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M タイトル A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 雑誌 Am J Hum Genet 78:345-9 (2006) DOI:10.1086/500092 PMID:17332895 (COQ10D2) 著者 Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rotig A. タイトル Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 雑誌 J Clin Invest 117:765-72 (2007) DOI:10.1172/JCI29089 PMID:17186472 (COQ10D3) 著者 Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M タイトル Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 雑誌 Am J Hum Genet 79:1125-9 (2006) DOI:10.1086/510023 PMID:18319072 (COQ10D4) 著者 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 タイトル CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 雑誌 Am J Hum Genet 82:623-30 (2008) DOI:10.1016/j.ajhg.2007.12.022 PMID:19375058 (COQ10D5) 著者 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 タイトル A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 雑誌 Am J Hum Genet 84:558-66 (2009) DOI:10.1016/j.ajhg.2009.03.018 PMID:21540551 (COQ10D6) 著者 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 タイトル COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 雑誌 J Clin Invest 121:2013-24 (2011) DOI:10.1172/JCI45693 PMID:25658047 (COQ10D7) 著者 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 タイトル COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 雑誌 Am J Hum Genet 96:309-17 (2015) DOI:10.1016/j.ajhg.2014.12.023 PMID:26084283 (COQ10D8) 著者 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 タイトル Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. 雑誌 J Med Genet 52:779-83 (2015) DOI:10.1136/jmedgenet-2015-102986 PMID:29044765 (COQ10D9) 著者 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 タイトル A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. 雑誌 Hum Mutat 39:69-79 (2018) DOI:10.1002/humu.23345 |