MCID: FTL003
MIFTS: 20

Fatal Infantile Encephalocardiomyopathy

Categories: Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Fatal Infantile Encephalocardiomyopathy

MalaCards integrated aliases for Fatal Infantile Encephalocardiomyopathy:

Name: Fatal Infantile Encephalocardiomyopathy 12 15
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 12 29 6 40
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 12
Fatal Infantile Cox Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050713

Summaries for Fatal Infantile Encephalocardiomyopathy

Disease Ontology : 12 A mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.

MalaCards based summary : Fatal Infantile Encephalocardiomyopathy, also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, is related to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, and has symptoms including dyspnea An important gene associated with Fatal Infantile Encephalocardiomyopathy is SCO2 (SCO2, Cytochrome C Oxidase Assembly Protein), 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 Encephalocardiomyopathy

Graphical network of the top 20 diseases related to Fatal Infantile Encephalocardiomyopathy:



Diseases related to Fatal Infantile Encephalocardiomyopathy

Symptoms & Phenotypes for Fatal Infantile Encephalocardiomyopathy

UMLS symptoms related to Fatal Infantile Encephalocardiomyopathy:


dyspnea

MGI Mouse Phenotypes related to Fatal Infantile Encephalocardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 COX10 MT-CO1 SCO2

Drugs & Therapeutics for Fatal Infantile Encephalocardiomyopathy

Search Clinical Trials , NIH Clinical Center for Fatal Infantile Encephalocardiomyopathy

Genetic Tests for Fatal Infantile Encephalocardiomyopathy

Genetic tests related to Fatal Infantile Encephalocardiomyopathy:

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

Anatomical Context for Fatal Infantile Encephalocardiomyopathy

Publications for Fatal Infantile Encephalocardiomyopathy

Variations for Fatal Infantile Encephalocardiomyopathy

ClinVar genetic disease variations for Fatal Infantile Encephalocardiomyopathy:

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 Encephalocardiomyopathy

Search GEO for disease gene expression data for Fatal Infantile Encephalocardiomyopathy.

Pathways for Fatal Infantile Encephalocardiomyopathy

GO Terms for Fatal Infantile Encephalocardiomyopathy

Cellular components related to Fatal Infantile Encephalocardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ACAD9 COX10 MT-CO1 SCO2
2 mitochondrial membrane GO:0031966 9.16 ACAD9 COX10
3 mitochondrial inner membrane GO:0005743 8.92 ACAD9 COX10 MT-CO1 SCO2

Biological processes related to Fatal Infantile Encephalocardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 ACAD9 MT-CO1 SCO2
2 proton transmembrane transport GO:1902600 9.26 COX10 MT-CO1
3 aerobic respiration GO:0009060 9.16 COX10 MT-CO1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 COX10 MT-CO1
5 respiratory chain complex IV assembly GO:0008535 8.62 COX10 SCO2

Molecular functions related to Fatal Infantile Encephalocardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytochrome-c oxidase activity GO:0004129 8.62 COX10 MT-CO1

Sources for Fatal Infantile Encephalocardiomyopathy

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
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49 NCI
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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
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