MCID: INT084
MIFTS: 29

Intrinsic Cardiomyopathy

Categories: Cardiovascular diseases

Aliases & Classifications for Intrinsic Cardiomyopathy

MalaCards integrated aliases for Intrinsic Cardiomyopathy:

Name: Intrinsic Cardiomyopathy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060036

Summaries for Intrinsic Cardiomyopathy

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 arrhythmogenic right ventricular cardiomyopathy and hypertrophic cardiomyopathy. An important gene associated with Intrinsic Cardiomyopathy is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Intrinsic Cardiomyopathy

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 31.1 DSG2 JUP KCNH2 LMNA PKP2 SCN5A
2 hypertrophic cardiomyopathy 29.5 ACTC1 CSRP3 LMNA MYBPC2 MYBPC3 MYH6
3 left ventricular noncompaction 28.9 ACTC1 CSRP3 JUP KCNQ1 LMNA MYBPC3
4 dilated cardiomyopathy 27.5 ACTC1 CSRP3 DSG2 JUP KCNH2 KCNQ1
5 cardiomyopathy, infantile histiocytoid 11.0
6 long qt syndrome 13 10.8 KCNH2 KCNQ1 SCN5A
7 first-degree atrioventricular block 10.8 MYH7 SCN5A
8 familial isolated restrictive cardiomyopathy 10.8 TNNI3 TNNT2
9 timothy syndrome 10.8 KCNE1 KCNH2 KCNQ1
10 brugada syndrome 1 10.8 KCNH2 SCN5A
11 familial short qt syndrome 10.8 KCNH2 KCNJ2 KCNQ1
12 peripartum cardiomyopathy 10.7 MYH7 SCN5A TTN
13 familial sick sinus syndrome 10.7 MYH6 SCN5A
14 cardiomyopathy, familial hypertrophic, 4 10.7 MYBPC2 MYBPC3 TTN
15 myopathy, distal, 1 10.7 MYH6 MYH7
16 wolff-parkinson-white syndrome 10.7 KCNQ1 MYH7 TNNI3
17 myosin storage myopathy 10.6 MYH6 MYH7
18 heart conduction disease 10.6 KCNH2 KCNJ2 KCNQ1 SCN5A
19 cardiomyopathy, familial hypertrophic, 1 10.6 MYBPC3 MYH6 MYH7
20 cardiac arrest 10.6 KCNQ1 MYBPC3 SCN5A TNNT2
21 catecholaminergic polymorphic ventricular tachycardia 10.6 KCNH2 KCNJ2 MYBPC3 SCN5A
22 progressive familial heart block 10.5 SCN5A TNNT2
23 long qt syndrome 12 10.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24 long qt syndrome 3 10.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25 naxos disease 10.5 JUP PKP2
26 jervell and lange-nielsen syndrome 1 10.5 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27 sick sinus syndrome 10.5 LMNA MYH6 SCN5A
28 arrhythmogenic right ventricular dysplasia, familial, 9 10.5 JUP PKP2
29 syncope 10.4 KCNH2 KCNJ2 KCNQ1 SCN5A TTN
30 andersen cardiodysrhythmic periodic paralysis 10.4 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
31 short qt syndrome 10.4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
32 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.4 DSG2 KCNH2 KCNJ2 KCNQ1 SCN5A
33 cardiac conduction defect 10.3 KCNH2 KCNQ1 LMNA MYBPC3 MYH7 SCN5A
34 ventricular fibrillation, paroxysmal familial, 1 10.3 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A TNNT2
35 long qt syndrome 5 10.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
36 long qt syndrome 6 10.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
37 arrhythmogenic right ventricular dysplasia, familial, 1 10.3 DSG2 JUP PKP2 TTN
38 long qt syndrome 2 10.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
39 atrioventricular block 10.3 KCNE1 KCNE2 KCNH2 KCNQ1 LMNA SCN5A
40 arrhythmogenic right ventricular dysplasia, familial, 8 10.3 JUP PKP2
41 cardiomyopathy, dilated, 1e 10.3 LMNA MYH7 SCN5A TPM1 TTN
42 long qt syndrome 1 10.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
43 familial atrial fibrillation 10.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
44 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSG2 JUP LMNA PKP2 TTN
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSG2 JUP LMNA PKP2 TTN
46 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSG2 JUP LMNA PKP2 TTN
47 atrial fibrillation 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC3
48 long qt syndrome 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC3
49 cardiac arrhythmia 10.0 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
50 restrictive cardiomyopathy 9.9 ACTC1 MYBPC3 MYH7 TNNI3 TNNT2 TPM1

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



Diseases related to Intrinsic Cardiomyopathy

Symptoms & Phenotypes for Intrinsic Cardiomyopathy

MGI Mouse Phenotypes related to Intrinsic Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 MYH7 PKP2 KCNH2 SCN5A KCNJ2 TNNI3
2 growth/size/body region MP:0005378 10 JUP KCNE2 KCNH2 SCN5A KCNJ2 KCNQ1
3 homeostasis/metabolism MP:0005376 9.97 KCNE2 PKP2 KCNH2 KCNJ2 KCNQ1 ACTC1
4 mortality/aging MP:0010768 9.77 JUP MYH6 PKP2 KCNH2 SCN5A KCNJ2
5 muscle MP:0005369 9.5 MYH7 PKP2 KCNH2 SCN5A KCNJ2 TNNI3

Drugs & Therapeutics for Intrinsic Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Intrinsic Cardiomyopathy

Genetic Tests for Intrinsic Cardiomyopathy

Anatomical Context for Intrinsic Cardiomyopathy

MalaCards organs/tissues related to Intrinsic Cardiomyopathy:

41
Heart

Publications for Intrinsic Cardiomyopathy

Articles related to Intrinsic Cardiomyopathy:

# Title Authors Year
1
Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans. ( 26042521 )
2015

Variations for Intrinsic Cardiomyopathy

Expression for Intrinsic Cardiomyopathy

Search GEO for disease gene expression data for Intrinsic Cardiomyopathy.

Pathways for Intrinsic Cardiomyopathy

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 ACTC1 KCNE1 KCNQ1 MYH6 MYH7 SCN5A
2 12.4 ACTC1 JUP LMNA TNNI3 TNNT2 TPM1
3 12.25 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4
Show member pathways
12.22 DSG2 JUP LMNA PKP2
5
Show member pathways
12.16 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC2
6
Show member pathways
12.15 ACTC1 LMNA MYBPC3 MYH6 MYH7 TNNI3
7 11.69 ACTC1 MYH6 MYH7 TNNI3 TNNT2 TPM1
8
Show member pathways
11.63 KCNE1 KCNE2 KCNQ1 SCN5A
9 11.62 ACTC1 MYBPC2 MYBPC3 MYH6 TNNI3 TNNT2
10 11.49 ACTC1 MYH6 SCN5A TNNI3 TNNT2
11 11.31 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
12 10.93 KCNE1 KCNJ2 KCNQ1

GO Terms for Intrinsic Cardiomyopathy

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.97 DSG2 KCNE1 KCNE2 KCNH2 SCN5A
2 voltage-gated potassium channel complex GO:0008076 9.83 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 cornified envelope GO:0001533 9.72 DSG2 JUP PKP2
4 intercalated disc GO:0014704 9.72 DSG2 JUP KCNJ2 PKP2 SCN5A
5 lateral plasma membrane GO:0016328 9.71 DSG2 JUP SCN5A
6 striated muscle thin filament GO:0005865 9.71 MYBPC2 MYBPC3 TNNT2 TTN
7 stress fiber GO:0001725 9.7 MYH6 MYH7 TPM1
8 M band GO:0031430 9.67 MYBPC2 MYBPC3 TTN
9 myosin filament GO:0032982 9.67 MYBPC2 MYBPC3 MYH6 MYH7
10 desmosome GO:0030057 9.65 DSG2 JUP PKP2
11 myofibril GO:0030016 9.65 MYH6 MYH7 TNNI3 TNNT2 TPM1
12 cardiac myofibril GO:0097512 9.63 MYBPC3 TNNI3 TNNT2
13 Z disc GO:0030018 9.61 CSRP3 JUP KCNE1 MYBPC2 MYBPC3 MYH6
14 troponin complex GO:0005861 9.56 TNNI3 TNNT2
15 muscle myosin complex GO:0005859 9.55 MYBPC2 MYBPC3 MYH6 MYH7 TTN
16 cardiac Troponin complex GO:1990584 9.51 TNNI3 TNNT2
17 sarcomere GO:0030017 9.23 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 TNNI3

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.97 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
2 actin filament organization GO:0007015 9.95 MYBPC2 MYBPC3 TPM1 TTN
3 cardiac muscle contraction GO:0060048 9.93 ACTC1 CSRP3 KCNH2 KCNQ1 MYBPC3 MYH6
4 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.92 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 sarcomere organization GO:0045214 9.91 MYBPC2 MYBPC3 MYH6 TNNT2 TPM1 TTN
6 regulation of heart contraction GO:0008016 9.9 KCNQ1 MYH6 TNNT2 TPM1
7 cornification GO:0070268 9.89 DSG2 JUP PKP2
8 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNE1 KCNH2 KCNJ2 KCNQ1
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.88 KCNE1 KCNE2 KCNJ2 PKP2 SCN5A
10 striated muscle contraction GO:0006941 9.88 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TTN
11 membrane repolarization GO:0086009 9.87 KCNE1 KCNE2 KCNH2 KCNQ1
12 cellular response to drug GO:0035690 9.86 KCNE2 KCNH2 KCNQ1
13 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.86 KCNE1 KCNH2 KCNJ2 KCNQ1
14 potassium ion export GO:0071435 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
15 regulation of membrane repolarization GO:0060306 9.85 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.84 KCNE1 KCNE2 KCNH2 KCNQ1
17 positive regulation of ATPase activity GO:0032781 9.83 MYBPC3 TNNT2 TPM1
18 regulation of heart rate GO:0002027 9.83 MYH6 MYH7 SCN5A
19 skeletal muscle contraction GO:0003009 9.82 MYH7 TNNI3 TNNT2
20 regulation of potassium ion transmembrane transport GO:1901379 9.82 KCNE1 KCNE2 KCNH2
21 regulation of the force of heart contraction GO:0002026 9.81 CSRP3 MYH6 MYH7
22 regulation of muscle contraction GO:0006937 9.81 TNNI3 TNNT2 TPM1
23 cardiac myofibril assembly GO:0055003 9.8 ACTC1 CSRP3 TTN
24 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.8 DSG2 JUP PKP2
25 ventricular cardiac muscle cell action potential GO:0086005 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 PKP2 SCN5A
26 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.8 MYBPC3 MYH6 MYH7 PKP2 TNNI3 TNNT2
27 striated muscle myosin thick filament assembly GO:0071688 9.79 MYBPC2 MYBPC3 TTN
28 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.77 DSG2 JUP PKP2
29 membrane repolarization during action potential GO:0086011 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30 actin filament-based movement GO:0030048 9.72 ACTC1 MYH6
31 cardiac muscle tissue morphogenesis GO:0055008 9.71 ACTC1 TTN
32 positive regulation of sodium ion transport GO:0010765 9.71 PKP2 SCN5A
33 adult heart development GO:0007512 9.71 MYH6 MYH7
34 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 MYH6 MYH7
35 heart contraction GO:0060047 9.71 ACTC1 TNNI3
36 cardiac muscle fiber development GO:0048739 9.7 MYH6 TTN
37 regulation of cardiac muscle cell contraction GO:0086004 9.7 KCNJ2 SCN5A
38 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.7 KCNJ2 SCN5A
39 negative regulation of ATPase activity GO:0032780 9.7 TNNI3 TNNT2
40 cardiac muscle hypertrophy GO:0003300 9.69 CSRP3 TTN
41 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.69 KCNE1 KCNE2
42 skeletal muscle thin filament assembly GO:0030240 9.69 ACTC1 TTN
43 atrial cardiac muscle cell action potential GO:0086014 9.68 KCNQ1 SCN5A
44 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE1 KCNE2
45 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.68 KCNQ1 SCN5A
46 potassium ion export across plasma membrane GO:0097623 9.67 KCNH2 KCNQ1
47 detection of muscle stretch GO:0035995 9.67 CSRP3 TTN
48 desmosome assembly GO:0002159 9.66 JUP PKP2
49 muscle filament sliding GO:0030049 9.61 ACTC1 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3
50 regulation of heart rate by cardiac conduction GO:0086091 9.28 DSG2 JUP KCNE1 KCNE2 KCNH2 KCNJ2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.98 JUP MYH6 SCN5A TNNI3 TTN
2 calmodulin binding GO:0005516 9.92 KCNQ1 MYH6 MYH7 SCN5A TTN
3 actin binding GO:0003779 9.87 CSRP3 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
4 ion channel binding GO:0044325 9.86 KCNE2 KCNQ1 PKP2 SCN5A
5 potassium channel activity GO:0005267 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
6 voltage-gated ion channel activity GO:0005244 9.85 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
7 voltage-gated potassium channel activity GO:0005249 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
8 scaffold protein binding GO:0097110 9.75 KCNH2 KCNQ1 SCN5A
9 inward rectifier potassium channel activity GO:0005242 9.71 KCNE2 KCNH2 KCNJ2
10 delayed rectifier potassium channel activity GO:0005251 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
11 actin filament binding GO:0051015 9.7 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TPM1
12 muscle alpha-actinin binding GO:0051371 9.69 MYBPC2 MYBPC3 TTN
13 structural molecule activity conferring elasticity GO:0097493 9.65 MYBPC2 MYBPC3 TTN
14 structural constituent of muscle GO:0008307 9.65 CSRP3 MYBPC2 MYBPC3 TPM1 TTN
15 microfilament motor activity GO:0000146 9.62 MYH6 MYH7
16 actin-dependent ATPase activity GO:0030898 9.61 MYH6 MYH7
17 telethonin binding GO:0031433 9.61 CSRP3 KCNE1 TTN
18 alpha-catenin binding GO:0045294 9.6 JUP PKP2
19 actinin binding GO:0042805 9.59 CSRP3 TTN
20 troponin C binding GO:0030172 9.57 TNNI3 TNNT2
21 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.54 DSG2 JUP PKP2
22 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.26 KCNE1 KCNE2 KCNH2 KCNQ1
23 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1
24 protein binding GO:0005515 10.54 CSRP3 JUP KCNE1 KCNE2 KCNH2 KCNQ1
25 identical protein binding GO:0042802 10.1 CSRP3 KCNH2 KCNJ2 MYBPC3 TPM1 TTN

Sources for Intrinsic Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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