MCID: CRD009
MIFTS: 20

Cardioencephalomyopathy

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardioencephalomyopathy

MalaCards integrated aliases for Cardioencephalomyopathy:

Name: Cardioencephalomyopathy 54

Classifications:



Summaries for Cardioencephalomyopathy

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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