MCID: FTL054
MIFTS: 19

Fatal Infantile Cytochrome C Oxidase Deficiency

Categories: Cardiovascular diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Fatal Infantile Cytochrome C Oxidase Deficiency

MalaCards integrated aliases for Fatal Infantile Cytochrome C Oxidase Deficiency:

Name: Fatal Infantile Cytochrome C Oxidase Deficiency 55
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 55
Fatal Infantile Cox Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
fatal infantile cytochrome c oxidase deficiency
Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

Orphanet 55 ORPHA1561
UMLS via Orphanet 70 C1858424
ICD10 via Orphanet 33 G71.3

Summaries for Fatal Infantile Cytochrome C Oxidase Deficiency

MalaCards based summary : Fatal Infantile Cytochrome C Oxidase Deficiency, also known as fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, is related to mitochondrial complex iv deficiency and fatal infantile encephalocardiomyopathy. An important gene associated with Fatal Infantile Cytochrome C Oxidase Deficiency is SCO2 (SCO2, Cytochrome C Oxidase Assembly Protein), and among its related pathways/superpathways are TP53 Regulates Metabolic Genes and Copper homeostasis.

Related Diseases for Fatal Infantile Cytochrome C Oxidase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iv deficiency 28.9 COA5 COX15 SCO1 SCO2
2 fatal infantile encephalocardiomyopathy 11.6
3 mitochondrial disorders 9.6 SCO1 SCO2
4 mitochondrial metabolism disease 9.4 COX15 SCO1 SCO2
5 leigh syndrome 9.3 COX15 SCO1 SCO2
6 hypertrophic cardiomyopathy 8.8 COA6 COX15 SCO1 SCO2
7 cardioencephalomyopathy 8.5 COA5 COA6 COX15 SCO1 SCO2

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



Diseases related to Fatal Infantile Cytochrome C Oxidase Deficiency

Symptoms & Phenotypes for Fatal Infantile Cytochrome C Oxidase Deficiency

Drugs & Therapeutics for Fatal Infantile Cytochrome C Oxidase Deficiency

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

Genetic Tests for Fatal Infantile Cytochrome C Oxidase Deficiency

Anatomical Context for Fatal Infantile Cytochrome C Oxidase Deficiency

Publications for Fatal Infantile Cytochrome C Oxidase Deficiency

Articles related to Fatal Infantile 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 Cytochrome C Oxidase Deficiency

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

6
# 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.674C> T (p.Ser225Phe) single nucleotide variant Pathogenic rs80358232 GRCh37 Chromosome 22, 50962167: 50962167
3 SCO2 NM_001169109.1(SCO2): c.511C> T (p.Arg171Trp) single nucleotide variant Pathogenic rs28937598 GRCh37 Chromosome 22, 50962330: 50962330
4 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
5 SCO2 NM_001169109.1(SCO2): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315512 GRCh37 Chromosome 22, 50962573: 50962573
6 SCO2 SCO2, 10-BP DUP, NT1302 duplication Pathogenic
7 SCO2 NM_001169109.1(SCO2): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs28937868 GRCh37 Chromosome 22, 50962443: 50962443
8 SCO2 NM_001169109.1(SCO2): c.107G> A (p.Trp36Ter) single nucleotide variant Pathogenic rs121908508 GRCh37 Chromosome 22, 50962734: 50962734

Expression for Fatal Infantile Cytochrome C Oxidase Deficiency

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

Pathways for Fatal Infantile Cytochrome C Oxidase Deficiency

Pathways related to Fatal Infantile Cytochrome C Oxidase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 SCO1 SCO2
2 10.36 SCO1 SCO2

GO Terms for Fatal Infantile Cytochrome C Oxidase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 COX15 SCO1 SCO2
2 mitochondrion GO:0005739 9.02 COA5 COA6 COX15 SCO1 SCO2
3 myofibril GO:0030016 8.96 SCO1 SCO2

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 COA5 SCO1
2 copper ion transport GO:0006825 9.16 SCO1 SCO2
3 cellular copper ion homeostasis GO:0006878 8.96 SCO1 SCO2
4 respiratory chain complex IV assembly GO:0008535 8.92 COA6 COX15 SCO1 SCO2

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.8 COA6 SCO1 SCO2

Sources for Fatal Infantile Cytochrome C Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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