KEGG   DISEASE: Coenzyme Q10 deficiencyHelp
Entry
H00999                      Disease                                

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
Nervous system disease; Hereditary ataxia
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00999  Coenzyme Q10 deficiency
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G11  Hereditary ataxia
    H00999  Coenzyme Q10 deficiency
BRITE hierarchy
Pathway
Ubiquinone and other terpenoid-quinone biosynthesis
Terpenoid backbone biosynthesis
Gene
COQ2 [HSA:27235] [KO:K06125]
COQ4 [HSA:51117] [KO:K18586]
COQ6 [HSA:51004] [KO:K06126]
COQ7 [HSA:10229] [KO:K06134]
COQ8A/ADCK3 [HSA:56997] [KO:K08869]
COQ9 [HSA:57017] [KO:K18587]
PDSS1 [HSA:23590] [KO:K12504]
PDSS2 [HSA:57107] [KO:K12505]
APTX [HSA:54840] [KO:K10863]
Drug
CoQ10 [DR:D01065]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Spindler M, Beal MF, Henchcliffe C
  Title
Coenzyme Q10 effects in neurodegenerative disease.
  Journal
Neuropsychiatr Dis Treat 5:597-610 (2009)
Reference
PMID:25658047 (gene)
  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
Reference
PMID:21540551 (gene)
  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
Reference
PMID:26084283 (gene)
  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

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