KEGG DISEASE: チトクロムc酸化酵素欠損症

DISEASE: チトクロムc酸化酵素欠損症

エントリ

H01368

名称

チトクロムc酸化酵素欠損症;
ミトコンドリア複合体 IV 欠損症 (MT-C4D)

下位グループ

致死性乳児心臓脳筋症 (CEMCOX) [DS:H01200]
リー症候群フランス系カナダ人型 (LSFC)

上位グループ

ミトコンドリア病 [DS:H01427]

概要

Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy.

カテゴリ

先天性代謝異常症, ミトコンドリア病

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C53  エネルギー代謝の先天性異常
     H01368  チトクロムc酸化酵素欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
細胞プロセス
  nt06529  熱産性
   H01368  チトクロムc酸化酵素欠損症

パスウェイ

hsa04714

Thermogenesis

hsa00190

Oxidative phosphorylation

hsa00860

Porphyrin metabolism

hsa04260

Cardiac muscle contraction

ネットワーク

nt06529 Thermogenesis

病因遺伝子

(MC4DN1) SURF1 [HSA:6834] [KO:K14998]
(MC4DN2) SCO2 [HSA:9997] [KO:K23755]
(MC4DN3) COX10 [HSA:1352] [KO:K02257]
(MC4DN4) SCO1 [HSA:6341] [KO:K07152]
(MC4DN5) LRPPRC [HSA:10128] [KO:K17964]
(MC4DN6) COX15 [HSA:1355] [KO:K02259]
(MC4DN7) COX6B1 [HSA:1340] [KO:K02267]
(MC4DN8) TACO1 [HSA:51204] [KO:K18189]
(MC4DN9) COA5 [HSA:493753] [KO:K18178]
(MC4DN10) COX14 [HSA:84987] [KO:K18181]
(MC4DN11) COX20 [HSA:116228] [KO:K18184]
(MC4DN12) PET100 [HSA:100131801] [KO:K18186]
(MC4DN13) COA6 [HSA:388753] [KO:K18179]
(MC4DN14) COA3 [HSA:28958] [KO:K18175]
(MC4DN15) COX8A [HSA:1351] [KO:K02273]
(MC4DN16) COX4I1 [HSA:1327] [KO:K02263]
(MC4DN17) COA8 [HSA:84334] [KO:K23506]
(MC4DN18) COX6A2 [HSA:1339] [KO:K02266]
(MC4DN19) PET117 [HSA:100303755] [KO:K18188]
(MC4DN20) COX5A [HSA:9377] [KO:K02264]
(MC4DN21) NDUFA4 [HSA:4697] [KO:K03948]
(MC4DN22) COX16 [HSA:51241] [KO:K18182]
(MC4DN23) COX11 [HSA:1353] [KO:K02258]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(MT-C4D) COX1 [HSA:4512] [KO:K02256]
(MT-C4D) COX2 [HSA:4513] [KO:K02261]
(MT-C4D) COX3 [HSA:4514] [KO:K02262]

リンク

ICD-11:

5C53.2Y

MeSH:

D030401

OMIM:

604377 619046 619048 220110 220111 615119 619051 619052 616500 619053 619054 619055 616501 619058 619059 619060 619061 619062 619063 619064 619065 618855 619355 620275

文献

PMID:11579424

著者

Shoubridge EA

タイトル

Cytochrome c oxidase deficiency.

雑誌

Am J Med Genet 106:46-52 (2001)
DOI:10.1002/ajmg.1378

文献

PMID:9843204 (SURF1)

著者

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA

タイトル

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

雑誌

Nat Genet 20:337-43 (1998)
DOI:10.1038/3804

文献

PMID:10545952 (SCO2)

著者

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA

タイトル

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

雑誌

Nat Genet 23:333-7 (1999)
DOI:10.1038/15513

文献

PMID:10767350 (COX10)

著者

Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A

タイトル

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

雑誌

Hum Mol Genet 9:1245-9 (2000)
DOI:10.1093/hmg/9.8.1245

文献

PMID:11013136 (SCO1)

著者

Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A

タイトル

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

雑誌

Am J Hum Genet 67:1104-9 (2000)
DOI:10.1016/S0002-9297(07)62940-1

文献

PMID:12529507 (LRPPRC)

著者

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES

タイトル

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

雑誌

Proc Natl Acad Sci U S A 100:605-10 (2003)
DOI:10.1073/pnas.242716699

文献

PMID:21412973 (COX15)

著者

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD

タイトル

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

雑誌

Am J Med Genet A 155A:840-4 (2011)
DOI:10.1002/ajmg.a.33881

文献

PMID:18499082 (COX6B1)

著者

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M

タイトル

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

雑誌

Am J Hum Genet 82:1281-9 (2008)
DOI:10.1016/j.ajhg.2008.05.002

文献

PMID:19503089 (TACO1)

著者

Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA

タイトル

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

雑誌

Nat Genet 41:833-7 (2009)
DOI:10.1038/ng.390

文献

PMID:21457908 (COA5)

著者

Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ

タイトル

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

雑誌

Am J Hum Genet 88:488-93 (2011)
DOI:10.1016/j.ajhg.2011.03.002

文献

PMID:22243966 (COX14)

著者

Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Aure K, Rotig A, Lombes A, Shoubridge EA

タイトル

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.

雑誌

Am J Hum Genet 90:142-51 (2012)
DOI:10.1016/j.ajhg.2011.11.027

文献

PMID:23125284 (COX20)

著者

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP

タイトル

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

雑誌

Hum Mol Genet 22:656-67 (2013)
DOI:10.1093/hmg/dds473

文献

PMID:24462369 (PET100)

著者

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR

タイトル

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

雑誌

Am J Hum Genet 94:209-22 (2014)
DOI:10.1016/j.ajhg.2013.12.015

文献

PMID:25339201 (COA6)

著者

Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ

タイトル

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

雑誌

Hum Mutat 36:34-8 (2015)
DOI:10.1002/humu.22715

文献

PMID:25604084 (COA3)

著者

Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J

タイトル

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

雑誌

J Med Genet 52:203-7 (2015)
DOI:10.1136/jmedgenet-2014-102914

文献

PMID:26685157 (COX8A)

著者

Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS

タイトル

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

雑誌

Brain 139:338-45 (2016)
DOI:10.1093/brain/awv357

文献

PMID:28766551 (COX4I1)

著者

Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A

タイトル

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

雑誌

Eur J Hum Genet 25:1142-1146 (2017)
DOI:10.1038/ejhg.2017.112

文献

PMID:25175347 (COA8)

著者

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M

タイトル

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

雑誌

Am J Hum Genet 95:315-25 (2014)
DOI:10.1016/j.ajhg.2014.08.003

文献

PMID:31155743 (COX6A2)

著者

Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I

タイトル

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

雑誌

Ann Neurol 86:193-202 (2019)
DOI:10.1002/ana.25517

文献

PMID:28386624 (PET117)

著者

Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT

タイトル

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

雑誌

Hum Genet 136:759-769 (2017)
DOI:10.1007/s00439-017-1794-7

文献

PMID:28247525 (COX5A)

著者

Baertling F, Al-Murshedi F, Sanchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ

タイトル

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

雑誌

Hum Mutat 38:692-703 (2017)
DOI:10.1002/humu.23210

文献

PMID:23746447 (NDUFA4)

著者

Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG

タイトル

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

雑誌

Cell Rep 3:1795-805 (2013)
DOI:10.1016/j.celrep.2013.05.005

文献

PMID:33169484 (COX16)

著者

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT

タイトル

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

雑誌

Hum Mutat 42:135-141 (2021)
DOI:10.1002/humu.24137

文献

PMID:36030551 (COX11)

著者

Rius R, Bennett NK, Bhattacharya K, Riley LG, Yuksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J

タイトル

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

雑誌

Hum Mutat 43:1970-1978 (2022)
DOI:10.1002/humu.24453

文献

PMID:18771761 (FASTKD2)

著者

Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M

タイトル

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

雑誌

Am J Hum Genet 83:415-23 (2008)
DOI:10.1016/j.ajhg.2008.08.009

文献

PMID:10441567 (COX1)

著者

Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G

タイトル

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

雑誌

Am J Hum Genet 65:611-20 (1999)
DOI:10.1086/302546

文献

PMID:10205264 (COX2)

著者

Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM

タイトル

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

雑誌

Am J Hum Genet 64:1330-9 (1999)
DOI:10.1086/302361

文献

PMID:8630495 (COX3)

著者

Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG

タイトル

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

雑誌

Nat Genet 12:410-6 (1996)
DOI:10.1038/ng0496-410

LinkDB

» English version

DBGET integrated database retrieval system