MCID: CRD009
MIFTS: 19

Cardioencephalomyopathy

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardioencephalomyopathy

MalaCards integrated aliases for Cardioencephalomyopathy:

Name: Cardioencephalomyopathy 20

Classifications:



Summaries for Cardioencephalomyopathy

MalaCards based summary : Cardioencephalomyopathy is related to mitochondrial complex iv deficiency, nuclear type 2 and mitochondrial complex iv deficiency, nuclear type 1. An important gene associated with Cardioencephalomyopathy is SCO2 (Synthesis Of Cytochrome C Oxidase 2), and among its related pathways/superpathways are Regulation of TP53 Activity and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

Related Diseases for Cardioencephalomyopathy

Diseases related to Cardioencephalomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iv deficiency, nuclear type 2 32.5 SCO2 NCAPH2
2 mitochondrial complex iv deficiency, nuclear type 1 30.1 SURF1 SCO2 SCO1 COX5A COX15
3 myopia 6 30.0 SCO2 NCAPH2
4 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 29.6 SURF1 SCO2 SCO1 NCAPH2 COX5A COX15
5 lactic acidosis 28.9 SURF1 SCO2 COX5A COX15
6 mitochondrial disorders 28.5 TYMP SURF1 SCO2 SCO1 COX5A
7 hypertrophic cardiomyopathy 28.1 SCO2 SCO1 COX5A COX15 COA6 COA5
8 leigh syndrome 27.9 SURF1 SCO2 SCO1 COX5A COX15 COA6
9 mitochondrial complex iv deficiency, nuclear type 6 11.5
10 mitochondrial complex iv deficiency, nuclear type 9 11.5
11 mitochondrial complex iv deficiency, nuclear type 13 11.5
12 hypotonia 10.1
13 mitochondrial neurogastrointestinal encephalomyopathy 10.1 TYMP SCO2
14 leigh syndrome with cardiomyopathy 10.1 SURF1 SCO2
15 mitochondrial dna depletion syndrome 4b 10.0 TYMP SCO2
16 mitochondrial dna depletion syndrome 1 10.0 TYMP SCO2 NCAPH2
17 mitochondrial dna depletion syndrome 10.0 TYMP SCO2 NCAPH2
18 charcot-marie-tooth disease, type 4k 9.9 SURF1 COA5
19 mitochondrial dna-associated leigh syndrome and narp 9.9
20 nuclear gene-encoded leigh syndrome spectrum 9.9
21 ocular motility disease 9.9 TYMP SURF1
22 cardiomyopathy, infantile hypertrophic 9.9 SURF1 SCO2 COX15
23 mitochondrial metabolism disease 9.9 SURF1 SCO2 COX15
24 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 TYMP SURF1
25 mitochondrial dna depletion syndrome 9 9.8 SCO1 COA5
26 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 TYMP SURF1 COX15
27 leigh syndrome with leukodystrophy 9.7 SURF1 COX15
28 leber hereditary optic neuropathy, modifier of 9.7 TYMP SURF1 SCO2 COX15
29 myoclonic epilepsy associated with ragged-red fibers 9.6 SURF1 SCO2 COX5A
30 mitochondrial dna depletion syndrome 4a 9.6 TYMP SURF1 COX5A
31 chronic progressive external ophthalmoplegia 9.6 TYMP SURF1 COX5A
32 mitochondrial encephalomyopathy 9.5 TYMP SURF1 COX5A
33 mitochondrial myopathy 9.4 TYMP SURF1 COX5A COX15
34 neuropathy, ataxia, and retinitis pigmentosa 9.4 SURF1 SCO2 COX15 COA6 COA5
35 kearns-sayre syndrome 9.2 TYMP SURF1 SCO2 COX5A COX15
36 3-methylglutaconic aciduria, type iii 9.2 TYMP SURF1 SCO2 COX5A COA6

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 25)
# Title Authors PMID Year
1
In vivo biodistribution study of TAT-L-Sco2 fusion protein, developed as protein therapeutic for mitochondrial disorders attributed to SCO2 mutations. 61
33318931 2020
2
Copper complexes for biomedical applications: Structural insights, antioxidant activity and neuron compatibility. 61
30616069 2019
3
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. 61
29351582 2018
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. 61
24434671 2014
5
Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases. 61
25097374 2014
6
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. 61
23407777 2013
7
PGD for inherited cardiac diseases. 61
22386593 2012
8
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations. 61
22515166 2012
9
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. 61
20193760 2010
10
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 61
20159436 2010
11
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 61
19837698 2010
12
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. 61
19353847 2009
13
Phenotypic consequences of a novel SCO2 gene mutation. 61
18924171 2008
14
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. 61
17557076 2007
15
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. 61
17187620 2007
16
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 61
16284789 2006
17
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 61
15210538 2004
18
Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity. 61
14972329 2004
19
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 61
14970747 2004
20
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 61
12020273 2002
21
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. 61
11931660 2002
22
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. 61
11751685 2001
23
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 61
11673586 2001
24
A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. 61
10854440 2000
25
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 61
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 9.43 SURF1 COX5A
2 oxidative phosphorylation GO:0006119 9.4 SURF1 COX5A
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.37 COX5A COX15
4 proton transmembrane transport GO:1902600 9.33 SURF1 COX5A COX15
5 copper ion transport GO:0006825 9.32 SCO2 SCO1
6 cellular copper ion homeostasis GO:0006878 9.26 SCO2 SCO1
7 mitochondrial respiratory chain complex IV assembly GO:0033617 9.26 COA5 SCO1 SCO2 SURF1
8 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 9.33 SCO2 SCO1 COA6
2 copper chaperone activity GO:0016531 8.96 SCO2 SCO1
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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