MCID: FTL068
MIFTS: 26

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 60 15
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 12 30 6 41
Fatal Infantile Cytochrome C Oxidase Deficiency 12 60
Fatal Infantile Cox Deficiency 12 60
Fatal Infantile Encephalocardiomyopathy 12

Characteristics:

Orphanet epidemiological data:

60
fatal infantile cytochrome c oxidase deficiency
Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050713
ICD10 via Orphanet 35 G71.3
UMLS via Orphanet 75 C1858424
Orphanet 60 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 (SCO Cytochrome C Oxidase Assembly Protein 2), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotype is muscle.

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

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

MGI Mouse Phenotypes related to Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 COX10 COX15 MT-CO1 SCO2

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 30 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:

# Title Authors Year
1
Defects in muscle fiber growth in fatal infantile cytochrome c oxidase deficiency. ( 2851269 )
1988
2
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. ( 2987757 )
1985

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

ClinVar genetic disease variations for Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh37 Chromosome 22, 50962684: 50962684
2 SCO2 NM_001169109.1(SCO2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs74315510 GRCh38 Chromosome 22, 50524255: 50524255
3 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh37 Chromosome 22, 50962167: 50962167
4 SCO2 NM_001169109.1(SCO2): c.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh38 Chromosome 22, 50523738: 50523738
5 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh37 Chromosome 22, 50962330: 50962330
6 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh38 Chromosome 22, 50523901: 50523901
7 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
8 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh38 Chromosome 22, 50523994: 50523994
9 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh37 Chromosome 22, 50962573: 50962573
10 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh38 Chromosome 22, 50524144: 50524144
11 SCO2 SCO2, 10-BP DUP, NT1302 duplication Pathogenic
12 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh37 Chromosome 22, 50962443: 50962443
13 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh38 Chromosome 22, 50524014: 50524014
14 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh37 Chromosome 22, 50962734: 50962734
15 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh38 Chromosome 22, 50524305: 50524305
16 SCO2 NM_005138.2(SCO2): c.378G> A (p.Met126Ile) single nucleotide variant Uncertain significance rs150880212 GRCh37 Chromosome 22, 50962463: 50962463
17 SCO2 NM_005138.2(SCO2): c.378G> A (p.Met126Ile) single nucleotide variant Uncertain significance rs150880212 GRCh38 Chromosome 22, 50524034: 50524034

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 membrane GO:0031966 9.43 ACAD9 COX10 COX15
2 mitochondrial inner membrane GO:0005743 9.43 ACAD9 COX10 COX15 MT-CO1 SCO1 SCO2
3 myofibril GO:0030016 9.37 SCO1 SCO2
4 integral component of mitochondrial inner membrane GO:0031305 9.32 SCO1 SCO2
5 mitochondrion GO:0005739 9.23 ACAD9 COA5 COA6 COX10 COX15 MT-CO1
6 cytochrome complex GO:0070069 9.16 COX10 COX15

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 ACAD9 COX15 MT-CO1 SCO2
2 proton transmembrane transport GO:1902600 9.5 COX10 COX15 MT-CO1
3 aerobic respiration GO:0009060 9.49 COX10 MT-CO1
4 cellular respiration GO:0045333 9.46 COX10 COX15
5 heme biosynthetic process GO:0006783 9.43 COX10 COX15
6 copper ion transport GO:0006825 9.4 SCO1 SCO2
7 cellular copper ion homeostasis GO:0006878 9.37 SCO1 SCO2
8 mitochondrial respiratory chain complex IV assembly GO:0033617 9.33 COA5 SCO1 SCO2
9 heme a biosynthetic process GO:0006784 9.26 COX10 COX15
10 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.13 COX10 COX15 MT-CO1
11 respiratory chain complex IV assembly GO:0008535 9.02 COA6 COX10 COX15 SCO1 SCO2

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 9.16 ACAD9 COX15
2 copper ion binding GO:0005507 9.13 COA6 SCO1 SCO2
3 cytochrome-c oxidase activity GO:0004129 8.8 COX10 COX15 MT-CO1

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

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