MCID: MTC028
MIFTS: 33

Mitochondrial Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories

Summaries for Mitochondrial Cardiomyopathy

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34MalaCards
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MalaCards: Mitochondrial Cardiomyopathy is related to kearns-sayre syndrome and keshan disease. An important gene associated with Mitochondrial Cardiomyopathy is MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G)), and among its related pathways is tRNA Aminoacylation. The compounds l-alanine and rotenone have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain.

Aliases & Classifications for Mitochondrial Cardiomyopathy

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21GeneTests, 23GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

mitochondrial cardiomyopathy 21 23


Related Diseases for Mitochondrial Cardiomyopathy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Mitochondrial Cardiomyopathy:



Diseases related to mitochondrial cardiomyopathy

Symptoms for Mitochondrial Cardiomyopathy

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Drugs & Therapeutics for Mitochondrial Cardiomyopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mitochondrial Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Cardiomyopathy

Search NIH Clinical Center for Mitochondrial Cardiomyopathy

Search CenterWatch for Mitochondrial Cardiomyopathy

Genetic Tests for Mitochondrial Cardiomyopathy

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21GeneTests, 23GTR
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Genetic tests related to Mitochondrial Cardiomyopathy:

id Genetic test Affiliating Genes
1 Mitochondrial Cardiomyopathy21 MT-TL1
2 Cardiomyopathy, Mitochondrial23

Anatomical Context for Mitochondrial Cardiomyopathy

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34MalaCards
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MalaCards organs/tissues related to Mitochondrial Cardiomyopathy:

34
Heart, Skeletal muscle, Brain, Kidney

Animal Models for Mitochondrial Cardiomyopathy or affiliated genes

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Publications for Mitochondrial Cardiomyopathy

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53PubMed
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Articles related to Mitochondrial Cardiomyopathy:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice. (23308255)
2013
2
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. (24082366)
2013
3
Evaluation of epicardial and intra-myocardial fat in a patient with mitochondrial cardiomyopathy. (23582435)
2013
4
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. (23754918)
2012
5
Cardiac magnetic resonance aids in the diagnosis of mitochondrial cardiomyopathy. (21321176)
2011
6
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (21457908)
2011
7
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. (21786366)
2011
8
Enhanced cardiomyocyte Ca(2+) cycling precedes terminal AV-block in mitochondrial cardiomyopathy Mterf3 KO mice. (21381862)
2011
9
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. (21156720)
2011
10
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (21549344)
2011
11
Giant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy: transmission and 3-dimensional scanning electron microscopy. (20159843)
2010
12
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. (20978534)
2010
13
Mitochondrial cardiomyopathy presenting as hypertrophic cardiomyopathy with advanced chronic kidney disease. (20620745)
2010
14
Abnormal myocardial energy-production state in mitochondrial cardiomyopathy and acute response to L-arginine infusion. C-11 acetate kinetics revealed by positron emission tomography. (21048330)
2010
15
Energy States in mitochondrial cardiomyopathy. In vivo functional imaging and L-arginine therapy. (21088330)
2010
16
A case of mitochondrial cardiomyopathy with pericardial effusion evaluated by (99m)Tc-MIBI myocardial scintigraphy. (19777318)
2009
17
Evidence for nuclear modifier gene in mitochondrial cardiomyopathy. (19233192)
2009
18
A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. (17689757)
2008
19
Images in cardiovascular medicine. Mitochondrial cardiomyopathy evaluated with cardiac magnetic resonance. (17620516)
2007
20
Evaluation of respiratory chain failure in mitochondrial cardiomyopathy by assessments of 99mTc-MIBI washout and 123I-BMIPP/99mTc-MIBI mismatch. (17280875)
2007
21
Keshan disease and mitochondrial cardiomyopathy. (17312989)
2006
22
Increased reactive oxygen species and anti-oxidative response in mitochondrial cardiomyopathy. (15849452)
2005
23
Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. (15757973)
2005
24
Neonatal mitochondrial cardiomyopathy. (15630531)
2004
25
Carvedilol protects against doxorubicin-induced mitochondrial cardiomyopathy. (12498738)
2002
26
A case of fatal mitochondrial cardiomyopathy. (12041891)
2002
27
Mitochondrial cardiomyopathy--case report. (11933462)
2002
28
Three dimensional configuration of mitochondria in left ventricular myocyte in mitochondrial cardiomyopathy: scanning electron microscopy by the osmium-DMSO-osmium method. (12067455)
2001
29
Heart transplantation in children with mitochondrial cardiomyopathy. (11602555)
2001
30
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. (11286379)
2001
31
Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. (10737799)
2000
32
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. (11032337)
2000
33
Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene. (9841711)
1999
34
Captopril increased mitochondrial coenzyme Q10 level, improved respiratory chain function and energy production in the left ventricle in rabbits with smoke mitochondrial cardiomyopathy. (10475591)
1999
35
Mitochondrial cardiomyopathy: molecular and biochemical analysis. (9175519)
1997
36
Brain ischemia, mitochondrial cardiomyopathy, and rediscovering the wheel. (8571435)
1996
37
Mitochondrial cardiomyopathy. (8909920)
1996
38
Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control. (7864851)
1995
39
Mitochondrial cardiomyopathy. (7753698)
1995
40
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
41
Mitochondrial cardiomyopathy. (8194831)
1994
42
Possible X linked congenital mitochondrial cardiomyopathy in three families. (8487269)
1993
43
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. (7693085)
1993
44
Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. (8381271)
1993
45
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies. (1659034)
1991
46
Keshan disease--an endemic mitochondrial cardiomyopathy in China. (2908794)
1988
47
Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome. (3599796)
1987
48
Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical--ultra-immunocytochemical--fine structural study in longterm frozen autopsy tissue. (2883759)
1986
49
Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome. (3085329)
1986
50
Mitochondrial cardiomyopathy with involvement of skeletal muscles. (6402848)
1983

Variations for Mitochondrial Cardiomyopathy

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Expression for genes affiliated with Mitochondrial Cardiomyopathy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Cardiomyopathy

Search GEO for disease gene expression data for Mitochondrial Cardiomyopathy.

Pathways for genes affiliated with Mitochondrial Cardiomyopathy

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1AARS, AARS2, MT-TL1

Compounds for genes affiliated with Mitochondrial Cardiomyopathy

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Sources:
62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank, 46Novoseek
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Compounds related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-alanine62 30 25 1212.6AARS, AARS2
2rotenone469.3HMOX1, CS
3manganese superoxide469.3HMOX1, CS
44-hydroxynonenal46 2510.2CS, HMOX1
5carbon469.2HMOX1, CS
6citrate469.1HMOX1, CS
7alanine468.3HMOX1, CS, AARS

GO Terms for genes affiliated with Mitochondrial Cardiomyopathy

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17Gene Ontology
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Biological processes related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA aminoacylation for protein translationGO:0064189.1AARS, AARS2
2negative regulation of neuron apoptotic processGO:0435249.0HMOX1, AARS

Molecular functions related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA bindingGO:0000499.4AARS, AARS2
2alanine-tRNA ligase activityGO:0048139.1AARS, AARS2

Products for genes affiliated with Mitochondrial Cardiomyopathy

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Sources for Mitochondrial Cardiomyopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet