MCID: FTL054
MIFTS: 20

Fatal Infantile Cytochrome C Oxidase Deficiency

Categories: Metabolic diseases, Rare diseases, Cardiovascular 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 59
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 59
Fatal Infantile Cox Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
fatal infantile cytochrome c oxidase deficiency
Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA1561
UMLS via Orphanet 74 C1858424
ICD10 via Orphanet 34 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and TP53 Regulates Metabolic Genes.

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 26.6 COA5 COA6 COX15 SCO1 SCO2
2 fatal infantile encephalocardiomyopathy 11.6
3 mitochondrial metabolism disease 9.7 COX15 SCO2
4 mitochondrial disorders 9.4 SCO1 SCO2
5 leigh syndrome 8.9 COX15 SCO1 SCO2
6 hypertrophic cardiomyopathy 8.1 COA6 COX15 SCO1 SCO2
7 cardioencephalomyopathy 7.6 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
(show all 15)
# 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

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

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 9.43 COX15 SCO1 SCO2
2 myofibril GO:0030016 9.16 SCO1 SCO2
3 mitochondrion GO:0005739 9.02 COA5 COA6 COX15 SCO1 SCO2
4 integral component of mitochondrial inner membrane GO:0031305 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 copper ion transport GO:0006825 9.26 SCO1 SCO2
2 cellular copper ion homeostasis GO:0006878 9.16 SCO1 SCO2
3 mitochondrial respiratory chain complex IV assembly GO:0033617 9.13 COA5 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....