MCID: MTC028
MIFTS: 33

Mitochondrial Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories
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Summaries for Mitochondrial Cardiomyopathy

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MalaCards based summary: 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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Mitochondrial Cardiomyopathy, Aliases & Descriptions:

Name: Mitochondrial Cardiomyopathy 20 22 62


Classifications:

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


Related Diseases for Mitochondrial Cardiomyopathy

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Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Cardiomyopathy

Search NIH Clinical Center for Mitochondrial Cardiomyopathy

Genetic Tests for Mitochondrial Cardiomyopathy

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Genetic tests related to Mitochondrial Cardiomyopathy:

id Genetic test Affiliating Genes
1 Mitochondrial Cardiomyopathy20 MT-TL1
2 Cardiomyopathy, Mitochondrial22

Anatomical Context for Mitochondrial Cardiomyopathy

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MalaCards organs/tissues related to Mitochondrial Cardiomyopathy:

32
Heart, Skeletal muscle, Brain

Animal Models for Mitochondrial Cardiomyopathy or affiliated genes

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Publications for Mitochondrial Cardiomyopathy

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Articles related to Mitochondrial Cardiomyopathy:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Extracellular volume imaging and quantitative t2 mapping for the diagnosis of mitochondrial cardiomyopathy. (25385939)
2014
2
Mitochondrial cardiomyopathy: an exceptional cause of cardiac hypertrophy. (24560355)
2014
3
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. (24813252)
2014
4
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. (24705334)
2014
5
Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice. (23308255)
2013
6
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. (24082366)
2013
7
Evaluation of epicardial and intra-myocardial fat in a patient with mitochondrial cardiomyopathy. (23582435)
2013
8
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. (23754918)
2012
9
Cardiac magnetic resonance aids in the diagnosis of mitochondrial cardiomyopathy. (21321176)
2011
10
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. (21457908)
2011
11
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. (21786366)
2011
12
Enhanced cardiomyocyte Ca(2+) cycling precedes terminal AV-block in mitochondrial cardiomyopathy Mterf3 KO mice. (21381862)
2011
13
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. (21156720)
2011
14
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (21549344)
2011
15
Giant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy: transmission and 3-dimensional scanning electron microscopy. (20159843)
2010
16
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. (20978534)
2010
17
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
18
Energy States in mitochondrial cardiomyopathy. In vivo functional imaging and L-arginine therapy. (21088330)
2010
19
A case of mitochondrial cardiomyopathy with pericardial effusion evaluated by (99m)Tc-MIBI myocardial scintigraphy. (19777318)
2009
20
A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. (17689757)
2008
21
Images in cardiovascular medicine. Mitochondrial cardiomyopathy evaluated with cardiac magnetic resonance. (17620516)
2007
22
Evaluation of respiratory chain failure in mitochondrial cardiomyopathy by assessments of 99mTc-MIBI washout and 123I-BMIPP/99mTc-MIBI mismatch. (17280875)
2007
23
Keshan disease and mitochondrial cardiomyopathy. (17312989)
2006
24
Increased reactive oxygen species and anti-oxidative response in mitochondrial cardiomyopathy. (15849452)
2005
25
Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. (15757973)
2005
26
Neonatal mitochondrial cardiomyopathy. (15630531)
2004
27
Carvedilol protects against doxorubicin-induced mitochondrial cardiomyopathy. (12498738)
2002
28
A case of fatal mitochondrial cardiomyopathy. (12041891)
2002
29
Mitochondrial cardiomyopathy--case report. (11933462)
2002
30
Three dimensional configuration of mitochondria in left ventricular myocyte in mitochondrial cardiomyopathy: scanning electron microscopy by the osmium-DMSO-osmium method. (12067455)
2001
31
Heart transplantation in children with mitochondrial cardiomyopathy. (11602555)
2001
32
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. (11286379)
2001
33
Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. (10737799)
2000
34
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. (11032337)
2000
35
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
36
Mitochondrial cardiomyopathy: molecular and biochemical analysis. (9175519)
1997
37
Brain ischemia, mitochondrial cardiomyopathy, and rediscovering the wheel. (8571435)
1996
38
Mitochondrial cardiomyopathy. (8909920)
1996
39
Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control. (7864851)
1995
40
Mitochondrial cardiomyopathy. (7753698)
1995
41
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
42
Mitochondrial cardiomyopathy. (8194831)
1994
43
Possible X linked congenital mitochondrial cardiomyopathy in three families. (8487269)
1993
44
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. (7693085)
1993
45
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
46
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies. (1659034)
1991
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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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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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:
61Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank, 44Novoseek
See all sources

Compounds related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-alanine61 28 24 1112.6AARS, AARS2
2rotenone449.3HMOX1, CS
3manganese superoxide449.3HMOX1, CS
44-hydroxynonenal44 2410.2CS, HMOX1
5carbon449.2HMOX1, CS
6citrate449.1HMOX1, CS
7alanine448.3HMOX1, CS, AARS

GO Terms for genes affiliated with Mitochondrial Cardiomyopathy

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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Mitochondrial Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet