MCID: FTL068
MIFTS: 30

Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

MalaCards integrated aliases for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

Name: Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 12 58 15
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 12 29 6 39
Fatal Infantile Cytochrome C Oxidase Deficiency 12 58
Fatal Infantile Cox Deficiency 12 58
Fatal Infantile Encephalocardiomyopathy 12

Characteristics:

Orphanet epidemiological data:

58
fatal infantile cytochrome c oxidase deficiency
Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050713
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C1858424
Orphanet 58 ORPHA1561

Summaries for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Disease Ontology : 12 A mitochondrial metabolism disease that has material basis in a deficiency of cytochrome c oxidase.

MalaCards based summary : Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency, also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, is related to mitochondrial complex iv deficiency and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, and has symptoms including dyspnea An important gene associated with Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency is SCO2 (Synthesis Of Cytochrome C Oxidase 2), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include pancreas.

Related Diseases for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Diseases related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iv deficiency 29.1 SURF1 SCO2 SCO1 COX6A2 COX15 COX10
2 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 12.5
3 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 12.5
4 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 12.5
5 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 12.5
6 leigh syndrome with cardiomyopathy 10.3 SURF1 SCO2
7 nuclear gene-encoded leigh syndrome 10.3 COX15 COX10
8 dysphagia 10.2 COX15 COX10
9 charcot-marie-tooth disease, type 4k 10.2 SURF1 COA5
10 aminoaciduria 10.1
11 hypotonia 10.1
12 primary optic atrophy 10.1 SCO1 MT-TK
13 hypertrophic cardiomyopathy 10.0 SCO2 SCO1 COX15 COA6
14 mitochondrial neurogastrointestinal encephalomyopathy 9.9 SCO2 POLG
15 hypertrophic olivary degeneration 9.9 SURF1 POLG
16 mitochondrial dna-associated leigh syndrome 9.8 SURF1 MT-ATP6 COX15 COX10
17 mitochondrial dna-associated leigh syndrome and narp 9.8 SURF1 MT-ATP6 COX15 COX10
18 leigh syndrome with leukodystrophy 9.8 SURF1 COX15
19 spastic paraplegia 55, autosomal recessive 9.7 MT-ATP6 COX6A1
20 cardioencephalomyopathy 9.6 SURF1 SCO2 SCO1 COX15 COA6 COA5
21 mitochondrial dna depletion syndrome 1 9.6 SCO2 POLG MT-TK
22 tooth disease 9.5 SURF1 MT-ATP6 COX6A1
23 mitochondrial dna deletion syndromes 9.5 SURF1 POLG COX15 COX10
24 myotonic cataract 9.5 POLG NPTX2 MT-TK
25 neonatal period electroclinical syndrome 9.5 POLG NPTX2 MT-TK
26 electroclinical syndrome 9.5 POLG NPTX2 MT-TK
27 ocular motility disease 9.5 POLG NPTX2 MT-TK
28 mitochondrial disorders 9.3 POLG MT-TK MT-ATP6
29 pearson marrow-pancreas syndrome 9.2 POLG NPTX2 MT-TK MT-ATP6
30 chronic progressive external ophthalmoplegia 9.2 POLG NPTX2 MT-TK MT-ATP6
31 cranial nerve disease 9.2 POLG NPTX2 MT-TK MT-ATP6
32 early myoclonic encephalopathy 9.2 POLG NPTX2 MT-TK MT-ATP6
33 optic nerve disease 9.2 POLG NPTX2 MT-TK MT-ATP6
34 peripheral nervous system disease 9.2 POLG NPTX2 MT-TK MT-ATP6
35 aceruloplasminemia 9.1 SURF1 POLG MT-TK MT-ATP6
36 3-methylglutaconic aciduria, type iii 9.1 POLG NPTX2 MT-TK MT-ATP6
37 lactic acidosis 8.9 SURF1 SCO2 POLG MT-TK MT-ATP6 COX15
38 muscular disease 8.8 POLG NPTX2 MT-TK MT-ATP6
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.8 POLG NPTX2 MT-TK MT-ATP6 COX10 ACAD9
40 kearns-sayre syndrome 8.7 SURF1 POLG NPTX2 MT-TK MT-ATP6 COX10
41 charcot-marie-tooth disease 8.7 SURF1 POLG MT-ATP6 COX6A1 COX10
42 myoclonic epilepsy associated with ragged-red fibers 8.6 SURF1 SCO2 POLG NPTX2 MT-TK MT-ATP6
43 mitochondrial myopathy 8.6 SURF1 POLG NPTX2 MT-TK MT-ATP6 COX15
44 mitochondrial encephalomyopathy 8.5 SURF1 POLG NPTX2 MT-TK MT-ATP6 COX10
45 leber optic atrophy 8.2 SURF1 SCO2 POLG NPTX2 MT-TK MT-ATP6
46 leigh syndrome 7.8 SURF1 SCO2 SCO1 POLG NPTX2 MT-TK
47 mitochondrial metabolism disease 7.6 SURF1 SCO2 SCO1 POLG NPTX2 MT-TK

Graphical network of the top 20 diseases related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:



Diseases related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency

Symptoms & Phenotypes for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

UMLS symptoms related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:


dyspnea

Drugs & Therapeutics for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Search Clinical Trials , NIH Clinical Center for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency

Genetic Tests for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Genetic tests related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

# Genetic test Affiliating Genes
1 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 29 SCO2

Anatomical Context for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

MalaCards organs/tissues related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

40
Pancreas

Publications for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Articles related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

(show all 22)
# Title Authors PMID Year
1
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. 6
26160915 2015
2
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 6
25959673 2015
3
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. 6
25339201 2015
4
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. 6
24549041 2014
5
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 6
23643385 2013
6
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 6
22277967 2012
7
Infantile cardioencephalopathy due to a COX15 gene defect: report and review. 6
21412973 2011
8
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. 6
21457908 2011
9
Phenotypic consequences of a novel SCO2 gene mutation. 6
18924171 2008
10
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
11
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 6
15235026 2004
12
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. 6
14994243 2004
13
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 6
14970747 2004
14
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 6
12474143 2003
15
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 6
12020273 2002
16
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 6
11673586 2001
17
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. 6
10749987 2000
18
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 6
10545952 1999
19
Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency. 6
2175025 1990
20
Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency. 61
2851269 1988
21
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. 61
2987757 1985
22
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. 61
2988412 1985

Variations for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Expression for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Search GEO for disease gene expression data for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency.

Pathways for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

GO Terms for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

Cellular components related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.61 SURF1 SCO2 SCO1 MT-ATP6 COX6A2 COX6A1
2 mitochondrial membrane GO:0031966 9.54 COX15 COX10 ACAD9
3 mitochondrion GO:0005739 9.44 SURF1 SCO2 SCO1 POLG MT-ATP6 MSTO1
4 myofibril GO:0030016 9.43 SCO2 SCO1
5 integral component of mitochondrial inner membrane GO:0031305 9.4 SCO2 SCO1
6 mitochondrial respiratory chain GO:0005746 9.33 SURF1 COX7A2 COX15
7 mitochondrial respiratory chain complex IV GO:0005751 9.32 COX6A2 COX6A1
8 cytochrome complex GO:0070069 9.26 COX15 COX10

Biological processes related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.62 SURF1 COX6A2 COX6A1 COX10
2 electron transport chain GO:0022900 9.58 SURF1 COX7A2 COX6A1
3 mitochondrial respiratory chain complex IV assembly GO:0033617 9.56 SURF1 SCO2 SCO1 COA5
4 heme biosynthetic process GO:0006783 9.51 COX15 COX10
5 cellular respiration GO:0045333 9.49 COX15 COX10
6 response to hyperoxia GO:0055093 9.48 POLG MT-ATP6
7 copper ion transport GO:0006825 9.46 SCO2 SCO1
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 COX6A2 COX6A1 COX15 COX10
9 cellular copper ion homeostasis GO:0006878 9.43 SCO2 SCO1
10 proton transmembrane transport GO:1902600 9.43 SURF1 COX7A2 COX6A2 COX6A1 COX15 COX10
11 heme a biosynthetic process GO:0006784 9.37 COX15 COX10
12 respiratory chain complex IV assembly GO:0008535 9.1 SURF1 SCO2 SCO1 COX15 COX10 COA6

Molecular functions related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 COX15 ACAD9
2 enzyme regulator activity GO:0030234 9.16 COX6A2 COX6A1
3 copper ion binding GO:0005507 9.13 SCO2 SCO1 COA6
4 cytochrome-c oxidase activity GO:0004129 9.1 SURF1 COX7A2 COX6A2 COX6A1 COX15 COX10

Sources for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C...

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