MCID: MTC028
MIFTS: 31

Mitochondrial Cardiomyopathy malady

Cardiovascular category

Summaries for Mitochondrial Cardiomyopathy

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33MalaCards
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MalaCards: Mitochondrial Cardiomyopathy is related to kearns-sayre syndrome and say syndrome. 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 rrna and l-alanine have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and heart.

Aliases & Classifications for Mitochondrial Cardiomyopathy

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20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular


Aliases & Descriptions:

mitochondrial cardiomyopathy 20 22


Related Diseases for Mitochondrial Cardiomyopathy

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17GeneCards, 18GeneDecks
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Diseases related to Mitochondrial Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1kearns-sayre syndrome10.2
2say syndrome10.2
3keshan disease10.1
4friedreich ataxia10.0
5melas syndrome10.0
6muscular atrophy10.0
7hypertrophic cardiomyopathy10.0
8spinal muscular atrophy10.0
9micro syndrome10.0
10mitochondrial complex v deficiency10.0
11doxorubicin induced cardiomyopathy10.0
12encephalomyopathy10.0
133 methylglutaconic aciduria type i10.0
14ataxia10.0
15brain ischemia10.0
16myopathy10.0CS

Graphical network of diseases related to Mitochondrial Cardiomyopathy:



Diseases related to mitochondrial cardiomyopathy

Clinical Features for Mitochondrial Cardiomyopathy

Drugs & Therapeutics for Mitochondrial Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Cardiomyopathy:

33
Brain, Kidney, Heart, Skeletal muscle, T cells, B cells, Cardiac myocytes

Animal Models for Mitochondrial Cardiomyopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mitochondrial Cardiomyopathy

Sources:
51PubMed
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Articles related to Mitochondrial Cardiomyopathy:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Mitochondrial Fatty Acid Oxidation Alterations in Heart Failure, Ischemic Heart Disease, and Diabetic Cardiomyopathy. (24147975)
2013
2
Increased (99m)Tc-sestamibi washout reflects impaired myocardial contractile and relaxation reserve during dobutamine stress due to mitochondrial dysfunction in dilated cardiomyopathy patients. (23501381)
2013
3
Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population. (23528301)
2013
4
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. (23421922)
2013
5
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy. (24367055)
2013
6
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. (23754918)
2012
7
Disruption of ATP-binding cassette B8 in mice leads to cardiomyopathy through a decrease in mitochondrial iron export. (22375032)
2012
8
A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. (22447147)
2012
9
Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. (22527938)
2012
10
Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy. (22253408)
2012
11
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? (22781753)
2012
12
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. (21723259)
2011
13
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. (21144833)
2011
14
Pretreatment with angiotensin-converting enzyme inhibitor improves doxorubicin-induced cardiomyopathy via preservation ofA mitochondrial function. (21094500)
2011
15
Enhanced cardiomyocyte Ca(2+) cycling precedes terminal AV-block in mitochondrial cardiomyopathy Mterf3 KO mice. (21381862)
2011
16
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. (21156720)
2011
17
Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. (21247928)
2011
18
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. (21549344)
2011
19
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet. (22106289)
2011
20
Attenuation of Doxorubicin-induced cardiomyopathy by endothelin-converting enzyme-1 ablation through prevention of mitochondrial biogenesis impairment. (20101000)
2010
21
The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study. (19397801)
2009
22
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. (19188198)
2009
23
Evidence for nuclear modifier gene in mitochondrial cardiomyopathy. (19233192)
2009
24
Metabolic cardiomyopathy and mitochondrial disorders in the pediatric intensive care unit. (17961702)
2007
25
A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy. (18043288)
2007
26
Evaluation of respiratory chain failure in mitochondrial cardiomyopathy by assessments of 99mTc-MIBI washout and 123I-BMIPP/99mTc-MIBI mismatch. (17280875)
2007
27
Keshan disease and mitochondrial cardiomyopathy. (17312989)
2006
28
Mitochondrial disorders in chagasic cardiomyopathy. (15769630)
2005
29
Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. (15757973)
2005
30
Mitochondrial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome. (15340680)
2004
31
Neonatal mitochondrial cardiomyopathy. (15630531)
2004
32
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. (12754703)
2003
33
A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms. (12002277)
2002
34
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. (11286379)
2001
35
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. (11032337)
2000
36
Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction. (10677865)
2000
37
Anti-mitochondrial antibodies in patients with dilated cardiomyopathy (anti-M7) are directed against flavoenzymes with covalently bound FAD. (9528896)
1998
38
Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. (8670183)
1996
39
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. (8723687)
1996
40
Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control. (7864851)
1995
41
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
42
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
43
Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria. (7564252)
1995
44
Mitochondrial cardiomyopathy. (8194831)
1994
45
Possible X linked congenital mitochondrial cardiomyopathy in three families. (8487269)
1993
46
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
47
Fatal infantile mitochondrial cardiomyopathy and myopathy with heterogeneous tissue expression of combined respiratory chain deficiencies. (1659034)
1991
48
Kinetic properties of mitochondrial ATPase during isoproterenol-induced cardiomyopathy. (2143151)
1990
49
Keshan disease--an endemic mitochondrial cardiomyopathy in China. (2908794)
1988
50
Histopathological observation of the heart with diffuse and abnormal proliferation of mitochondria in myocardial cells (mitochondrial cardiomyopathy): report of an adult case. (3571106)
1986

Genetic Variations for Mitochondrial Cardiomyopathy

Expression for genes affiliated with Mitochondrial Cardiomyopathy

Sources:
1BioGPS, 15Gene 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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54Reactome, 30KEGG
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Pathways related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.2AARS, AARS2, MT-TG, MT-TI, MT-TH, MT-TL1

Compounds for genes affiliated with Mitochondrial Cardiomyopathy

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna459.5MT-ATP8, CS
2l-alanine29 60 11 2412.4AARS, AARS2
3rotenone459.1HMOX1, CS
4nadh45 11 2410.5HMOX1, MT-ATP8, CS

GO Terms for genes affiliated with Mitochondrial Cardiomyopathy

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16Gene Ontology
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Biological processes related to Mitochondrial Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA aminoacylation for protein translationGO:0064189.4AARS, AARS2

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet