MCID: MTC028
MIFTS: 32

Mitochondrial Cardiomyopathy malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Cardiomyopathy

Aliases & Descriptions for Mitochondrial Cardiomyopathy:

Name: Mitochondrial Cardiomyopathy 24 29 69
Cardiomyopathy, Maternally Transmitted 24

Classifications:



Summaries for Mitochondrial Cardiomyopathy

MalaCards based summary : Mitochondrial Cardiomyopathy, also known as cardiomyopathy, maternally transmitted, is related to 3-methylglutaconic aciduria, type i and cardiomyopathy. An important gene associated with Mitochondrial Cardiomyopathy is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Iron and Resveratrol have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and kidney.

Related Diseases for Mitochondrial Cardiomyopathy

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

(show all 21)
id Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type i 10.8
2 cardiomyopathy 10.5
3 familial cold-induced inflammatory syndrome 1 10.0 COA5 MT-TL1
4 kearns-sayre syndrome 9.8
5 keshan disease 9.7
6 myopathy 9.7
7 ataxia 9.7
8 congestive heart failure 9.6
9 spinal muscular atrophy 9.6
10 pericardial effusion 9.6
11 ischemia 9.6
12 lactic acidosis 9.6
13 kidney disease 9.6
14 muscular atrophy 9.6
15 mitochondrial encephalomyopathy 9.6
16 friedreich ataxia 9.6
17 encephalomyopathy 9.6
18 scapuloperoneal spinal muscular atrophy 9.6
19 barth syndrome 9.6
20 brain ischemia 9.6
21 mrpl40-related disorder 8.8 AARS AARS2 COA5 CS HMOX1 MRPL3

Graphical network of the top 20 diseases related to Mitochondrial Cardiomyopathy:



Diseases related to Mitochondrial Cardiomyopathy

Symptoms & Phenotypes for Mitochondrial Cardiomyopathy

Drugs & Therapeutics for Mitochondrial Cardiomyopathy

Drugs for Mitochondrial Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 107)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 1, Phase 2 7439-89-6 23925
2
Resveratrol Experimental, Investigational Phase 1, Phase 2 501-36-0, 955365-80-7 24856436 445154
3 Epoetin alfa Phase 2 113427-24-0
4 Analgesics Phase 1, Phase 2
5 Chelating Agents Phase 1, Phase 2
6 Hematinics Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Trace Elements Phase 1, Phase 2
9 Peripheral Nervous System Agents Phase 1, Phase 2
10 Platelet Aggregation Inhibitors Phase 1, Phase 2
11 Protective Agents Phase 1, Phase 2
12 Anti-Inflammatory Agents Phase 1, Phase 2
13 Iron Chelating Agents Phase 1, Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
15 Micronutrients Phase 1, Phase 2
16 Antirheumatic Agents Phase 1, Phase 2
17 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
18 Antioxidants Phase 1, Phase 2
19
Norepinephrine Approved Phase 1 51-41-2 439260
20
Nitric Oxide Approved Phase 1 10102-43-9 145068
21
Fexofenadine Approved Phase 1 83799-24-0 3348
22
Phentolamine Approved Phase 1 50-60-2 5775
23
Valsartan Approved, Investigational Phase 1 137862-53-4 60846
24
Nitroglycerin Approved, Investigational Phase 1 55-63-0 4510
25
Acetylcholine Approved Phase 1 51-84-3 187
26
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
27
Ranitidine Approved Phase 1 66357-59-3, 66357-35-5 3001055
28
Nitroprusside Approved Phase 1 15078-28-1 11963622
29
Vitamin C Approved, Nutraceutical Phase 1 50-81-7 5785 54670067
30
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
32
Angiotensin II Phase 1 68521-88-0, 11128-99-7 65143 172198
33
Bismuth Phase 1 7440-69-9 16682734 105143
34 Ranitidine bismuth citrate Phase 1
35
Histamine Phosphate Phase 1 51-74-1 65513
36
protease inhibitors Phase 1
37 Serine Proteinase Inhibitors Phase 1
38 Cholinergic Agents Phase 1
39 N-Methylaspartate Phase 1
40 Adrenergic Agents Phase 1
41 Adrenergic Agonists Phase 1
42 Adrenergic Antagonists Phase 1
43 Gastrointestinal Agents Phase 1
44 Adrenergic alpha-Agonists Phase 1
45 Adrenergic alpha-Antagonists Phase 1
46 Neurotransmitter Agents Phase 1
47 HIV Protease Inhibitors Phase 1
48 Thioctic Acid Phase 1
49 Tocopherols Phase 1
50 Nitric Oxide Donors Phase 1

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2
2 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2
3 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2
4 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2
5 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
6 : Vascular Function in Health and Disease Recruiting NCT02966665 Phase 1
7 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
8 Relationship Between Abnormalities of Desmin Cytoskeleton, Mitochondrial Activity and Expression of Ubiquitin in Aspect of Pathogenesis of Heart Failure and Prognosis Unknown status NCT00819442
9 Cross-over Study on Effect of Lipid Lowering by Acipimox on Cardiac and Skeletal Muscle Mitochondrial Function Completed NCT00943059
10 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295
11 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
12 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
13 Exercise Training in Barth Syndrome Completed NCT01194141
14 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
15 Characterization of Obesity-related Cardiomyopathy Through Exploration of Human Atrial Trabeculae Contraction Recruiting NCT02384252
16 Heart and Muscle Metabolism in Barth Syndrome Recruiting NCT01625663
17 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
18 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Recruiting NCT02840669
19 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314
20 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
21 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304
24 The Role of Mitochondrial Respiration in the Cardioprotective Capacity of IPC in Diabetic and Non-diabetic Patients Enrolling by invitation NCT02993484
25 In and ex Vivo Mitochondrial Function of the Heart Not yet recruiting NCT03049228
26 UTSW HP [13-C] Pyruvate Injection in HCM Not yet recruiting NCT03057002
27 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112

Search NIH Clinical Center for Mitochondrial Cardiomyopathy

Genetic Tests for Mitochondrial Cardiomyopathy

Genetic tests related to Mitochondrial Cardiomyopathy:

id Genetic test Affiliating Genes
1 Cardiomyopathy, Mitochondrial 29
2 Mitochondrial Cardiomyopathy 24 MT-TL1

Anatomical Context for Mitochondrial Cardiomyopathy

MalaCards organs/tissues related to Mitochondrial Cardiomyopathy:

39
Heart, Skeletal Muscle, Kidney, Brain

Publications for Mitochondrial Cardiomyopathy

Articles related to Mitochondrial Cardiomyopathy:

(show top 50) (show all 66)
id Title Authors Year
1
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. ( 27839525 )
2016
2
Electron Microscopic Findings Are an Important Aid for Diagnosing Mitochondrial Cardiomyopathy With Mitochondrial DNA Mutation 3243A>G. ( 27402860 )
2016
3
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt. ( 27154400 )
2016
4
Electron microscopy reveals morphosis of multi-layered mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy. ( 26912602 )
2016
5
Mitochondrial cardiomyopathy and related arrhythmias. ( 26002393 )
2015
6
Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes. ( 26258512 )
2015
7
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. ( 25959673 )
2015
8
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. ( 24705334 )
2014
9
Extracellular volume imaging and quantitative t2 mapping for the diagnosis of mitochondrial cardiomyopathy. ( 25385939 )
2014
10
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
11
Mitochondrial cardiomyopathy: an exceptional cause of cardiac hypertrophy. ( 24560355 )
2014
12
Evaluation of epicardial and intra-myocardial fat in a patient with mitochondrial cardiomyopathy. ( 23582435 )
2013
13
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. ( 24082366 )
2013
14
Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice. ( 23308255 )
2013
15
Vacant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy and diabetes mellitus. ( 22879003 )
2012
16
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. ( 23754918 )
2012
17
Enhanced cardiomyocyte Ca(2+) cycling precedes terminal AV-block in mitochondrial cardiomyopathy Mterf3 KO mice. ( 21381862 )
2011
18
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. ( 21156720 )
2011
19
Cardiac magnetic resonance aids in the diagnosis of mitochondrial cardiomyopathy. ( 21321176 )
2011
20
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. ( 21786366 )
2011
21
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. ( 21549344 )
2011
22
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet. ( 22106289 )
2011
23
Human "nuclear" mitochondrial cardiomyopathy a novel mouse model characterizes the disease. ( 21232698 )
2011
24
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. ( 21457908 )
2011
25
Giant mitochondria in the myocardium of a patient with mitochondrial cardiomyopathy: transmission and 3-dimensional scanning electron microscopy. ( 20159843 )
2010
26
Energy States in mitochondrial cardiomyopathy. In vivo functional imaging and L-arginine therapy. ( 21088330 )
2010
27
Mitochondrial cardiomyopathy presenting as hypertrophic cardiomyopathy with advanced chronic kidney disease. ( 20620745 )
2010
28
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
29
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. ( 20978534 )
2010
30
A case of mitochondrial cardiomyopathy with pericardial effusion evaluated by (99m)Tc-MIBI myocardial scintigraphy. ( 19777318 )
2009
31
Evidence for nuclear modifier gene in mitochondrial cardiomyopathy. ( 19233192 )
2009
32
A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. ( 17689757 )
2008
33
Images in cardiovascular medicine. Mitochondrial cardiomyopathy evaluated with cardiac magnetic resonance. ( 17620516 )
2007
34
Evaluation of respiratory chain failure in mitochondrial cardiomyopathy by assessments of 99mTc-MIBI washout and 123I-BMIPP/99mTc-MIBI mismatch. ( 17280875 )
2007
35
Keshan disease and mitochondrial cardiomyopathy. ( 17312989 )
2006
36
Increased reactive oxygen species and anti-oxidative response in mitochondrial cardiomyopathy. ( 15849452 )
2005
37
Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. ( 15757973 )
2005
38
Neonatal mitochondrial cardiomyopathy. ( 15630531 )
2004
39
Carvedilol protects against doxorubicin-induced mitochondrial cardiomyopathy. ( 12498738 )
2002
40
A case of fatal mitochondrial cardiomyopathy. ( 12041891 )
2002
41
Mitochondrial cardiomyopathy--case report. ( 11933462 )
2002
42
Heart transplantation in children with mitochondrial cardiomyopathy. ( 11602555 )
2001
43
Three dimensional configuration of mitochondria in left ventricular myocyte in mitochondrial cardiomyopathy: scanning electron microscopy by the osmium-DMSO-osmium method. ( 12067455 )
2001
44
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. ( 11286379 )
2001
45
Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy. ( 10737799 )
2000
46
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. ( 11032337 )
2000
47
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
48
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
49
Mitochondrial cardiomyopathy: molecular and biochemical analysis. ( 9175519 )
1997
50
Brain ischemia, mitochondrial cardiomyopathy, and rediscovering the wheel. ( 8571435 )
1996

Variations for Mitochondrial Cardiomyopathy

ClinVar genetic disease variations for Mitochondrial Cardiomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL2 m.12297T> C single nucleotide variant Pathogenic rs121434464 GRCh37 Chromosome MT, 12297: 12297

Expression for Mitochondrial Cardiomyopathy

Search GEO for disease gene expression data for Mitochondrial Cardiomyopathy.

Pathways for Mitochondrial Cardiomyopathy

Pathways related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 AARS AARS2 MT-TL1

GO Terms for Mitochondrial Cardiomyopathy

Cellular components related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 AARS AARS2 COA5 CS MRPL3

Biological processes related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.43 AARS AARS2 MRPL3
2 negative regulation of neuron apoptotic process GO:0043524 9.32 AARS HMOX1
3 tRNA modification GO:0006400 9.16 AARS AARS2
4 tRNA aminoacylation GO:0043039 8.96 AARS AARS2
5 alanyl-tRNA aminoacylation GO:0006419 8.62 AARS AARS2

Molecular functions related to Mitochondrial Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.67 AARS AARS2 CS MRPL3
2 ligase activity GO:0016874 9.4 AARS AARS2
3 tRNA binding GO:0000049 9.32 AARS AARS2
4 aminoacyl-tRNA ligase activity GO:0004812 9.26 AARS AARS2
5 amino acid binding GO:0016597 9.16 AARS AARS2
6 ligase activity, forming aminoacyl-tRNA and related compounds GO:0016876 8.96 AARS AARS2
7 alanine-tRNA ligase activity GO:0004813 8.62 AARS AARS2

Sources for Mitochondrial Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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