MCID: CRD009
MIFTS: 19

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 myopia 6. An important gene associated with Cardioencephalomyopathy is SCO2 (SCO Cytochrome C Oxidase Assembly Protein 2), 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:

(show all 24)
# Title Authors PMID Year
1
Copper complexes for biomedical applications: Structural insights, antioxidant activity and neuron compatibility. 38
30616069 2019
2
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 38
29351582 2018
3
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases. 38
25097374 2014
4
EPR spectroscopy of a clinically active (1:2) copper(II)-histidine complex used in the treatment of Menkes disease: a Fourier transform analysis of a fluid CW-EPR spectrum. 38
24434671 2014
5
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. 38
23407777 2013
6
PGD for inherited cardiac diseases. 38
22386593 2012
7
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations. 38
22515166 2012
8
Intracellular delivery of full length recombinant human mitochondrial L-Sco2 protein into the mitochondria of permanent cell lines and SCO2 deficient patient's primary cells. 38
20193760 2010
9
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 38
20159436 2010
10
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 38
19837698 2010
11
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 38
19353847 2009
12
Phenotypic consequences of a novel SCO2 gene mutation. 38
18924171 2008
13
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. 38
17557076 2007
14
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. 38
17187620 2007
15
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 38
16284789 2006
16
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 38
15210538 2004
17
Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity. 38
14972329 2004
18
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 38
14970747 2004
19
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 38
12020273 2002
20
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. 38
11931660 2002
21
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. 38
11751685 2001
22
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 38
11673586 2001
23
A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. 38
10854440 2000
24
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 38
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 SURF1 SCO2 SCO1 COX5A COX15
2 myofibril GO:0030016 9.32 SCO2 SCO1
3 integral component of mitochondrial inner membrane GO:0031305 9.26 SCO2 SCO1
4 mitochondrion GO:0005739 9.17 SURF1 SCO2 SCO1 COX5A COX15 COA6
5 mitochondrial respiratory chain GO:0005746 9.16 SURF1 COX15

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

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 SCO2 SCO1 COA6
2 cytochrome-c oxidase activity GO:0004129 8.8 SURF1 COX5A COX15

Sources for Cardioencephalomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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