MCID: CRD009
MIFTS: 20

Cardioencephalomyopathy

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardioencephalomyopathy

MalaCards integrated aliases for Cardioencephalomyopathy:

Name: Cardioencephalomyopathy 53

Classifications:



Summaries for Cardioencephalomyopathy

MalaCards based summary : Cardioencephalomyopathy is related to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 and fatal infantile cytochrome c oxidase deficiency. An important gene associated with Cardioencephalomyopathy 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 Regulation of TP53 Activity.

Related Diseases for Cardioencephalomyopathy

Graphical network of the top 20 diseases related to Cardioencephalomyopathy:



Diseases related to Cardioencephalomyopathy

Symptoms & Phenotypes for Cardioencephalomyopathy

Drugs & Therapeutics for Cardioencephalomyopathy

Search Clinical Trials , NIH Clinical Center for Cardioencephalomyopathy

Genetic Tests for Cardioencephalomyopathy

Anatomical Context for Cardioencephalomyopathy

Publications for Cardioencephalomyopathy

Articles related to Cardioencephalomyopathy:

# Title Authors Year
1
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. ( 23407777 )
2013
2
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. ( 20159436 )
2010
3
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. ( 19353847 )
2009
4
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. ( 17187620 )
2007
5
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. ( 10545952 )
1999

Variations for Cardioencephalomyopathy

Expression for Cardioencephalomyopathy

Search GEO for disease gene expression data for Cardioencephalomyopathy.

Pathways for Cardioencephalomyopathy

GO Terms for Cardioencephalomyopathy

Cellular components related to Cardioencephalomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.35 COX15 COX5A SCO1 SCO2 SURF1
2 myofibril GO:0030016 9.32 SCO1 SCO2
3 integral component of mitochondrial inner membrane GO:0031305 9.26 SCO1 SCO2
4 mitochondrion GO:0005739 9.17 COA5 COA6 COX15 COX5A SCO1 SCO2
5 mitochondrial respiratory chain GO:0005746 9.16 COX15 SURF1

Biological processes related to Cardioencephalomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.4 COX5A SURF1
2 copper ion transport GO:0006825 9.37 SCO1 SCO2
3 proton transmembrane transport GO:1902600 9.33 COX15 COX5A SURF1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.32 COX15 COX5A
5 cellular copper ion homeostasis GO:0006878 9.26 SCO1 SCO2
6 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 COA5 SCO1 SCO2 SURF1
7 respiratory chain complex IV assembly GO:0008535 9.02 COA6 COX15 SCO1 SCO2 SURF1

Molecular functions related to Cardioencephalomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.13 COA6 SCO1 SCO2
2 cytochrome-c oxidase activity GO:0004129 8.8 COX15 COX5A SURF1

Sources for Cardioencephalomyopathy

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
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