KEGG   DISEASE: Fatal infantile cardioencephalomyopathy
Entry
H01200                      Disease                                
Name
Fatal infantile cardioencephalomyopathy
  Supergrp
Cytochrome c oxidase (COX) deficiency [DS:H01368]
Mitochondrial disease [DS:H01427]
Description
Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome c oxidase deficiency. Mutations in the SCO2 and COX15 gene causing cytochrome c oxidase deficiency have been reported in patients with fatal infantile cardioencephalomyopathy.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H01200  Fatal infantile cardioencephalomyopathy
Pathway
hsa00190  Oxidative phosphorylation
Gene
(CEMCOX1) SCO2 [HSA:9997] [KO:K23755]
(CEMCOX2) COX15 [HSA:1355] [KO:K02259]
(CEMCOX3) COA5 [HSA:493753] [KO:K18178]
(CEMCOX4) COA6 [HSA:388753] [KO:K18179]
Other DBs
ICD-11: 8C73.Y
ICD-10: G71.3
MeSH: C565784
OMIM: 604377 615119 616500 616501
Reference
  Authors
Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C
  Title
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
  Journal
Acta Paediatr 96:130-2 (2007)
DOI:10.1111/j.1651-2227.2007.00008.x
Reference
  Authors
Joost K, Rodenburg R, Piirsoo A, van den Heuvel B, Zordania R, Ounap K
  Title
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
  Journal
Pediatr Neurol 42:227-30 (2010)
DOI:10.1016/j.pediatrneurol.2009.10.004
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
Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ
  Title
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
  Journal
Am J Hum Genet 88:488-93 (2011)
DOI:10.1016/j.ajhg.2011.03.002
Reference
  Authors
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
  Title
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
  Journal
Hum Mutat 36:34-8 (2015)
DOI:10.1002/humu.22715
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