MCID: FTL068
MIFTS: 30

Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency

Categories: Cardiovascular 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 Regulation of TP53 Activity. Related phenotype is Decreased shRNA abundance.

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 45)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iv deficiency 29.0 SURF1 SCO2 SCO1 COX6A2 COX5A COX15
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 degenerative myopia 10.2 SCO2 NDUFAF7
10 charcot-marie-tooth disease, type 4k 10.2 SURF1 NDUFAF7 COA5
11 mitochondrial dna deletion syndromes 10.2 SURF1 COX15 COX10
12 aminoaciduria 10.1
13 hypotonia 10.1
14 cortical dysplasia, complex, with other brain malformations 2 10.0 MT-ATP6 KIF1C
15 mitochondrial dna depletion syndrome 9 10.0 SURF1 SCO1
16 myotonic cataract 10.0 NPTX2 MT-TK
17 mitochondrial dna depletion syndrome 1 9.9 SCO2 MT-TK
18 mitochondrial dna-associated leigh syndrome 9.9 SURF1 MT-ATP6 COX15 COX10
19 mitochondrial dna-associated leigh syndrome and narp 9.9 SURF1 MT-ATP6 COX15 COX10
20 leigh syndrome with leukodystrophy 9.9 SURF1 COX15
21 mitochondrial dna depletion syndrome 4a 9.9 SURF1 NPTX2 MT-TK
22 aceruloplasminemia 9.8 SURF1 MT-ATP6 KIF1C
23 pearson marrow-pancreas syndrome 9.8 NPTX2 MT-TK MT-ATP6
24 cardiomyopathy, infantile hypertrophic 9.8 SURF1 SCO2 MT-ATP6 COX15 COX10
25 cranial nerve disease 9.8 NPTX2 MT-TK MT-ATP6
26 mitochondrial dna depletion syndrome 9.7 SURF1 SCO2 NPTX2 MT-TK
27 mitochondrial disorders 9.7 MT-TK MT-ATP6 COX5A
28 myopathy, lactic acidosis, and sideroblastic anemia 1 9.7 MT-TK MT-ATP6 COX5A COX10
29 optic nerve disease 9.6 NPTX2 MT-TK MT-ATP6
30 lactic acidosis 9.6 SURF1 SCO2 MT-TK MT-ATP6 COX15
31 chronic progressive external ophthalmoplegia 9.6 NPTX2 MT-TK MT-ATP6 COX5A
32 early myoclonic encephalopathy 9.6 NPTX2 MT-TK MT-ATP6 COX5A
33 cardioencephalomyopathy 9.6 SURF1 SCO2 SCO1 COX5A COX15 COA6
34 hypertrophic cardiomyopathy 9.3 SCO2 SCO1 MT-ATP6 COX15 COX10 COA6
35 myopathy 9.1 SCO1 MT-TK MT-ATP6 MSTO1 COX5A COX10
36 myoclonic epilepsy associated with ragged-red fibers 9.1 SURF1 SCO2 NPTX2 MT-TK MT-ATP6 COX5A
37 mitochondrial encephalomyopathy 9.0 SURF1 NPTX2 MT-TK MT-ATP6 COX5A COX10
38 3-methylglutaconic aciduria, type iii 9.0 SCO2 NPTX2 NDUFAF7 MT-TK MT-ATP6 KIF1C
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.0 SURF1 SCO2 NPTX2 MT-TK MT-ATP6 COX15
40 leber optic atrophy 9.0 SURF1 SCO2 NPTX2 MT-TK MT-ATP6 COX15
41 neuropathy, ataxia, and retinitis pigmentosa 8.9 SURF1 SCO2 NPTX2 MT-TK MT-ATP6 COX15
42 mitochondrial myopathy 8.7 SURF1 NPTX2 MT-TK MT-ATP6 MSTO1 COX5A
43 kearns-sayre syndrome 8.3 SURF1 SDHAF1 SCO2 NPTX2 MT-TK MT-ATP6
44 leigh syndrome 7.5 SURF1 SDHAF1 SCO2 SCO1 NPTX2 NDUFAF7
45 mitochondrial metabolism disease 7.0 SURF1 SDHAF1 SCO2 SCO1 NPTX2 NDUFAF7

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 ACAD9 COX10 COX5A COX7A2

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...

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 9.65 SURF1 SCO2 SCO1 MT-ATP6 COX6A2 COX6A1
2 mitochondrial membrane GO:0031966 9.54 COX15 COX10 ACAD9
3 mitochondrion GO:0005739 9.5 SURF1 SDHAF1 SCO2 SCO1 NDUFAF7 MT-ATP6
4 mitochondrial respiratory chain GO:0005746 9.43 SURF1 COX7A2 COX15
5 mitochondrial respiratory chain complex IV GO:0005751 9.33 COX6A2 COX6A1 COX5A
6 cytochrome complex GO:0070069 9.32 COX15 COX10

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 SURF1 SCO2 COX6A2 COX6A1 COX15 ACAD9
2 electron transport chain GO:0022900 9.71 SURF1 COX7A2 COX6A1 COX5A
3 aerobic respiration GO:0009060 9.67 SURF1 COX6A2 COX6A1 COX10
4 oxidative phosphorylation GO:0006119 9.65 SURF1 COX7A2 COX6A2 COX6A1 COX5A
5 mitochondrial respiratory chain complex IV assembly GO:0033617 9.62 SURF1 SCO2 SCO1 COA5
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.55 COX6A2 COX6A1 COX5A COX15 COX10
7 heme biosynthetic process GO:0006783 9.52 COX15 COX10
8 cellular respiration GO:0045333 9.51 COX15 COX10
9 proton transmembrane transport GO:1902600 9.5 SURF1 COX7A2 COX6A2 COX6A1 COX5A COX15
10 copper ion transport GO:0006825 9.49 SCO2 SCO1
11 cellular copper ion homeostasis GO:0006878 9.48 SCO2 SCO1
12 heme a biosynthetic process GO:0006784 9.43 COX15 COX10
13 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 enzyme regulator activity GO:0030234 9.26 COX6A2 COX6A1
2 cytochrome-c oxidase activity GO:0004129 9.17 SURF1 COX7A2 COX6A2 COX6A1 COX5A COX15
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 COX15 ACAD9
4 copper ion binding GO:0005507 9.13 SCO2 SCO1 COA6

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

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