KEGG   DISEASE: Cytochrome c oxidase (COX) deficiencyHelp
Entry
H01368                      Disease                                

Name
Cytochrome c oxidase (COX) deficiency;
Mitochondrial complex IV deficiency (MT-C4D)
  Subgroup
Fatal infantile cardioencephalomyopathy (CEMCOX) [DS:H01200]
Leigh syndrome, French-Canadian type (LSFC)
  Supergrp
Mitochondrial disease [DS:H01427]
Description
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.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01368  Cytochrome c oxidase (COX) deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01368  Cytochrome c oxidase (COX) deficiency
BRITE hierarchy
Pathway
hsa00190  Oxidative phosphorylation
hsa00860  Porphyrin and chlorophyll metabolism
hsa04260  Cardiac muscle contraction
Gene
(MT-C4D) COX6B1 [HSA:1340] [KO:K02267]
(MT-C4D) COX14 [HSA:84987] [KO:K18181]
(MT-C4D) COX10 [HSA:1352] [KO:K02257]
(CEMCOX2) COX15 [HSA:1355] [KO:K02259]
(MT-C4D) COX20 [HSA:116228] [KO:K18184]
(MT-C4D) COA5 [HSA:493753] [KO:K18178]
(MT-C4D) SCO1 [HSA:6341] [KO:K07152]
(CEMCOX1) SCO2 [HSA:9997] [KO:K07152]
(MT-C4D) FASTKD2 [HSA:22868] [KO:K18190]
(MT-C4D) MT-CO1 [HSA:4512] [KO:K02256]
(MT-C4D) MT-CO2 [HSA:4513] [KO:K02261]
(MT-C4D) MT-CO3 [HSA:4514] [KO:K02262]
(MT-C4D) APOPT1 [HSA:84334]
(MT-C4D) PET100 [HSA:100131801] [KO:K18186]
(LSFC) LRPPRC [HSA:10128] [KO:K17964]
Other DBs
ICD-11: 5C53.2Y
ICD-10: G71.3
MeSH: D030401
OMIM: 220110 220111 604377 615119
Reference
  Authors
Shoubridge EA
  Title
Cytochrome c oxidase deficiency.
  Journal
Am J Med Genet 106:46-52 (2001)
DOI:10.1002/ajmg.1378
Reference
  Authors
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
  Title
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
  Journal
Am J Med Genet A 155A:840-4 (2011)
DOI:10.1002/ajmg.a.33881
Reference
  Authors
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
  Title
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
  Journal
Am J Hum Genet 95:315-25 (2014)
DOI:10.1016/j.ajhg.2014.08.003
Reference
  Authors
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
  Title
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
  Journal
Am J Hum Genet 94:209-22 (2014)
DOI:10.1016/j.ajhg.2013.12.015

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