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MCID: INT084
MIFTS: 27

Intrinsic Cardiomyopathy

Categories: Cardiovascular diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Intrinsic Cardiomyopathy

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MalaCards integrated aliases for Intrinsic Cardiomyopathy:

Name: Intrinsic Cardiomyopathy 12 15

Classifications:

MalaCards categories:
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060036
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Summaries for Intrinsic Cardiomyopathy

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Disease Ontology : 12 A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.

MalaCards based summary : Intrinsic Cardiomyopathy is related to restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Intrinsic Cardiomyopathy is MIR21 (MicroRNA 21), and among its related pathways/superpathways are MicroRNAs in cancer and cGMP-PKG signaling pathway. Affiliated tissues include heart, and related phenotype is muscle.

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Related Diseases for Intrinsic Cardiomyopathy

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

(show top 50) (show all 225)
# Related Disease Score Top Affiliating Genes
1 restrictive cardiomyopathy 32.2 TTN TNNT2 MYH7 MYH6 MYBPC3
2 arrhythmogenic right ventricular cardiomyopathy 32.1 TTN SCN5A RYR2 PKP2 MYH7 MYH6
3 left ventricular noncompaction 32.0 TTN TNNT2 SCN5A RYR2 PKP2 MYH7
4 hypertrophic cardiomyopathy 31.9 TTN TNNT2 SCN5A RYR2 PKP2 MYH7
5 dilated cardiomyopathy 31.9 TTN TNNT2 SCN5A RYR2 PKP2 MYH7
6 atrial standstill 1 30.3 TTN TNNT2 SCN5A RYR2 PKP2 MYH7
7 cardiomyopathy, infantile histiocytoid 11.0
8 long qt syndrome 14 10.6 SCN5A KCNQ1 KCNH2
9 developmental and epileptic encephalopathy 14 10.6 SCN5A KCNQ1 KCNH2
10 first-degree atrioventricular block 10.6 SCN5A MYH7 KCNH2
11 left ventricular noncompaction 1 10.6 SCN5A PKP2 MYH6
12 brugada syndrome 4 10.6 SCN5A KCNQ1 KCNH2
13 long qt syndrome 10 10.6 SCN5A KCNQ1 KCNE1
14 long qt syndrome 12 10.5 SCN5A KCNQ1 KCNH2 KCNE1
15 long qt syndrome 13 10.5 SCN5A KCNQ1 KCNH2 KCNE1
16 long qt syndrome 5 10.5 SCN5A KCNQ1 KCNH2 KCNE1
17 long qt syndrome 6 10.5 SCN5A KCNQ1 KCNH2 KCNE1
18 long qt syndrome 9 10.5 SCN5A KCNQ1 KCNH2 KCNE1
19 third-degree atrioventricular block 10.5 TTN SCN5A KCNH2
20 jervell and lange-nielsen syndrome 1 10.5 SCN5A KCNQ1 KCNH2 KCNE1
21 arrhythmogenic right ventricular dysplasia, familial, 12 10.5 RYR2 PKP2 KCNH2
22 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.5 TTN RYR2 PKP2
23 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.5 TTN RYR2 PKP2
24 mobitz type ii atrioventricular block 10.5 TNNT2 MYH7 MYH6
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.5 TTN RYR2 PKP2
26 brugada syndrome 1 10.5 SCN5A RYR2 MYBPC3 KCNH2
27 right bundle branch block 10.5 SCN5A PKP2 KCNH2
28 familial long qt syndrome 10.5 SCN5A KCNQ1 KCNH2 KCNE1
29 hyaline body myopathy 10.5 TTN MYH7 MYH6
30 sick sinus syndrome 10.5 TTN SCN5A MYH6 MIR423
31 diastolic heart failure 10.5 TTN MYBPC3 MIR499A
32 peripartum cardiomyopathy 10.5 TTN SCN5A MYH7 MIR21 MIR146A
33 cardiomyopathy, dilated, 1dd 10.5 TTN TNNT2 RYR2
34 sinoatrial node disease 10.5 SCN5A RYR2 MYH6 KCNQ1 KCNH2
35 intestinal benign neoplasm 10.5 MIR21 MIR199A1 MIR142 H2AC18
36 intermediate coronary syndrome 10.5 TNNT2 MIR423 MIR142 MIR126
37 tricuspid valve disease 10.5 TNNT2 MYH7 MYH6
38 left bundle branch hemiblock 10.5 TNNT2 SCN5A RYR2 PKP2
39 danon disease 10.5 MYH7 MYH6 MYBPC3
40 neuromuscular junction disease 10.5 SCN5A RYR2 KCNH2
41 arrhythmogenic right ventricular dysplasia, familial, 3 10.5 RYR2 PKP2
42 retinal vascular disease 10.5 MIR21 MIR199A1 MIR126 H2AC18
43 gastrointestinal system benign neoplasm 10.5 MIR21 MIR199A1 MIR142 H2AC18
44 cardiomyopathy, familial hypertrophic, 4 10.5 TTN TNNT2 MYH7 MYBPC3
45 mitochondrial dna depletion syndrome 12b 10.5 TTN SCN5A MYH7 MYH6 MYBPC3
46 arrhythmogenic right ventricular dysplasia, familial, 1 10.5 TTN RYR2 PKP2 MYBPC3
47 long qt syndrome 3 10.5 SCN5A RYR2 KCNQ1 KCNH2 KCNE1
48 arrhythmogenic right ventricular dysplasia, familial, 4 10.5 RYR2 PKP2
49 andersen cardiodysrhythmic periodic paralysis 10.5 SCN5A RYR2 KCNQ1 KCNH2 KCNE1
50 aortic disease 10.5 MIR423 MIR21 MIR199A1 MIR126

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



Diseases related to Intrinsic Cardiomyopathy
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Symptoms & Phenotypes for Intrinsic Cardiomyopathy

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MGI Mouse Phenotypes related to Intrinsic Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.32 KCNH2 KCNQ1 MYBPC3 MYH6 MYH7 PKP2
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Drugs & Therapeutics for Intrinsic Cardiomyopathy

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Search Clinical Trials , NIH Clinical Center for Intrinsic Cardiomyopathy

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Genetic Tests for Intrinsic Cardiomyopathy

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Anatomical Context for Intrinsic Cardiomyopathy

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MalaCards organs/tissues related to Intrinsic Cardiomyopathy:

40
Heart
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Publications for Intrinsic Cardiomyopathy

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Articles related to Intrinsic Cardiomyopathy:

# Title Authors PMID Year
1
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial. 61
31077250 2019
2
Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans. 61
26042521 2015
3
Real time three-dimensional echocardiography for the evaluation of cardiomyopathy. 61
23186292 2012
4
Model-specific selection of molecular targets for heart failure gene therapy. 61
21954055 2011
5
Type 1 diabetes, hyperglycaemia, and the heart. 61
18502304 2008
6
Signalosomes as Therapeutic Targets. 61
19343079 2008
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Variations for Intrinsic Cardiomyopathy

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Expression for Intrinsic Cardiomyopathy

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Search GEO for disease gene expression data for Intrinsic Cardiomyopathy.
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Pathways for Intrinsic Cardiomyopathy

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

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 36
12.29 MIR423 MIR21 MIR199A1 MIR146A MIR126
2
cGMP-PKG signaling pathway 36
Show member pathways
 12.2 TNNT2 SCN5A RYR2 MYH7 MYH6 KCNQ1
3
Dilated cardiomyopathy 36
Show member pathways
 12 TTN TNNT2 RYR2 MYH7 MYH6 MYBPC3
4
Cardiac conduction 65
Show member pathways
 12 TTN TNNT2 SCN5A RYR2 MYH6 MYBPC3
5
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.94 SCN5A RYR2 KCNQ1 KCNH2
6
Cardiac muscle contraction 36
11.61 TNNT2 RYR2 MYH7 MYH6
7
Phase 0 - rapid depolarisation 65
Show member pathways
 11.53 SCN5A KCNQ1 KCNE1
8
Striated Muscle Contraction 65 1
11.48 TTN TNNT2 MYH6 MYBPC3
9
Cardiac Progenitor Differentiation 1
11.36 TNNT2 SCN5A MYH6
10
Antiarrhythmic Pathway, Pharmacodynamics 60
11.1 SCN5A RYR2 KCNQ1 KCNH2 KCNE1
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GO Terms for Intrinsic Cardiomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 9.58 KCNQ1 KCNH2 KCNE1
2 muscle myosin complex GO:0005859 9.43 MYH7 MYH6
3 myofibril GO:0030016 9.43 TNNT2 MYH7 MYH6
4 striated muscle thin filament GO:0005865 9.37 TTN TNNT2
5 sarcomere GO:0030017 9.35 TNNT2 RYR2 MYH7 MYH6 MYBPC3
6 myosin filament GO:0032982 9.33 MYH7 MYH6 MYBPC3
7 cardiac myofibril GO:0097512 9.32 TNNT2 MYBPC3
8 Z disc GO:0030018 9.1 TTN SCN5A RYR2 MYH7 MYH6 KCNE1

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 10.01 MIR590 MIR499A MIR423 MIR21 MIR199A1 MIR146A
2 regulation of ion transmembrane transport GO:0034765 9.94 SCN5A KCNQ1 KCNH2 KCNE1
3 negative regulation of inflammatory response GO:0050728 9.92 MIR590 MIR146A MIR142 MIR126
4 muscle contraction GO:0006936 9.9 TTN TNNT2 MYH7 MYH6
5 miRNA mediated inhibition of translation GO:0035278 9.89 MIR590 MIR499A MIR21 MIR146A
6 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.8 MIR590 MIR21 MIR146A
7 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.8 MIR590 MIR21 MIR199A1
8 sarcomere organization GO:0045214 9.79 TTN TNNT2 MYH6
9 regulation of heart contraction GO:0008016 9.78 TNNT2 MYH6 KCNQ1
10 cardiac conduction GO:0061337 9.78 SCN5A KCNQ1 KCNH2 KCNE1
11 positive regulation of vascular endothelial cell proliferation GO:1905564 9.76 MIR499A MIR21 MIR126
12 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.75 MIR21 MIR146A MIR126
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.74 SCN5A PKP2 KCNE1
14 striated muscle contraction GO:0006941 9.73 TTN MYH7 MYH6
15 regulation of heart rate GO:0002027 9.73 SCN5A RYR2 MYH7 MYH6
16 potassium ion export across plasma membrane GO:0097623 9.72 KCNQ1 KCNH2 KCNE1
17 regulation of heart rate by cardiac conduction GO:0086091 9.72 SCN5A PKP2 KCNQ1 KCNH2 KCNE1
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.71 KCNQ1 KCNH2 KCNE1
19 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.7 KCNQ1 KCNH2 KCNE1
20 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.69 KCNQ1 KCNE1
21 membrane depolarization during action potential GO:0086010 9.69 SCN5A KCNH2
22 membrane repolarization GO:0086009 9.69 KCNQ1 KCNH2 KCNE1
23 positive regulation of sodium ion transport GO:0010765 9.68 SCN5A PKP2
24 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.68 RYR2 PKP2
25 cellular response to epinephrine stimulus GO:0071872 9.68 RYR2 KCNQ1
26 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 MYH7 MYH6
27 adult heart development GO:0007512 9.67 MYH7 MYH6
28 negative regulation of matrix metallopeptidase secretion GO:1904465 9.67 MIR199A1 MIR146A
29 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.67 RYR2 PKP2
30 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNQ1 KCNH2 KCNE1
31 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 SCN5A KCNQ1 KCNH2 KCNE1
32 regulation of membrane repolarization GO:0060306 9.66 KCNQ1 KCNH2
33 cardiac muscle hypertrophy GO:0003300 9.66 TTN RYR2
34 atrial cardiac muscle cell action potential GO:0086014 9.65 SCN5A KCNQ1
35 transition between fast and slow fiber GO:0014883 9.65 MYH7 MIR499A
36 cardiac muscle fiber development GO:0048739 9.65 TTN MYH6
37 muscle filament sliding GO:0030049 9.65 TTN TNNT2 MYH7 MYH6 MYBPC3
38 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 SCN5A KCNQ1
39 positive regulation of cardiac muscle tissue regeneration GO:1905180 9.63 MIR590 MIR199A1
40 membrane repolarization during action potential GO:0086011 9.63 KCNQ1 KCNH2 KCNE1
41 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.55 TNNT2 PKP2 MYH7 MYH6 MYBPC3
42 ventricular cardiac muscle cell action potential GO:0086005 9.43 SCN5A RYR2 PKP2 KCNQ1 KCNH2 KCNE1
43 cardiac muscle contraction GO:0060048 9.28 TTN TNNT2 SCN5A RYR2 MYH7 MYH6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.76 SCN5A RYR2 KCNQ1 KCNH2
2 mRNA 3'-UTR binding GO:0003730 9.73 MIR21 MIR146A MIR142 MIR126
3 voltage-gated ion channel activity GO:0005244 9.71 SCN5A KCNQ1 KCNH2 KCNE1
4 potassium channel activity GO:0005267 9.7 KCNQ1 KCNH2 KCNE1
5 voltage-gated potassium channel activity GO:0005249 9.69 KCNQ1 KCNH2 KCNE1
6 scaffold protein binding GO:0097110 9.65 SCN5A KCNQ1 KCNH2
7 ion channel binding GO:0044325 9.65 SCN5A RYR2 PKP2 KCNQ1 KCNE1
8 protein kinase A catalytic subunit binding GO:0034236 9.54 RYR2 KCNQ1
9 delayed rectifier potassium channel activity GO:0005251 9.54 KCNQ1 KCNH2 KCNE1
10 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.5 KCNQ1 KCNH2 KCNE1
11 telethonin binding GO:0031433 9.49 TTN KCNE1
12 calmodulin binding GO:0005516 9.43 TTN SCN5A RYR2 MYH7 MYH6 KCNQ1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.33 KCNQ1 KCNH2 KCNE1
14 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR590 MIR499A MIR423 MIR21 MIR199A1 MIR146A
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Sources for Intrinsic Cardiomyopathy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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