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

Cytochrome c oxidase (COX) deficiency;
Mitochondrial complex IV deficiency (MT-C4D)
Fatal infantile cardioencephalomyopathy (CEMCOX) [DS:H01200]
Leigh syndrome, French-Canadian type (LSFC)
Mitochondrial disease [DS:H01427]
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.
Inherited metabolic disease; Mitochondrial disease
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
hsa00190  Oxidative phosphorylation
hsa00860  Porphyrin and chlorophyll metabolism
hsa04260  Cardiac muscle contraction
(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:K23755]
(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] [KO:K23506]
(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
Shoubridge EA
Cytochrome c oxidase deficiency.
Am J Med Genet 106:46-52 (2001)
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A 155A:840-4 (2011)
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
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet 95:315-25 (2014)
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
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet 94:209-22 (2014)

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