MCID: INT084
MIFTS: 30

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 left ventricular noncompaction. 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 skin, and related phenotypes are Decreased viability and Decreased viability

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 31.6 DSG2 KCNH2 LMNA MYH7 PKP2 SCN5A
2 left ventricular noncompaction 31.0 ACTC1 CSRP3 KCNQ1 LMNA MYBPC3 MYH6
3 dilated cardiomyopathy 30.4 ACTC1 CSRP3 DSG2 KCNH2 KCNQ1 LMNA
4 cardiomyopathy, infantile histiocytoid 11.1
5 long qt syndrome 13 10.2 KCNH2 KCNQ1 SCN5A
6 familial isolated restrictive cardiomyopathy 10.2 TNNI3 TNNT2
7 timothy syndrome 10.2 KCNE1 KCNH2 KCNQ1
8 familial short qt syndrome 10.2 KCNH2 KCNJ2 KCNQ1
9 first-degree atrioventricular block 10.2 MYH7 SCN5A
10 left bundle branch hemiblock 10.2 PKP2 SCN5A TNNI3
11 cardiomyopathy, familial hypertrophic, 4 10.2 MYBPC2 MYBPC3 TTN
12 wolff-parkinson-white syndrome 10.2 KCNQ1 MYH7 TNNI3
13 third-degree atrioventricular block 10.2 KCNE2 SCN5A
14 familial sick sinus syndrome 10.2 MYH6 SCN5A
15 myosin storage myopathy 10.2 MYH6 MYH7
16 long qt syndrome 12 10.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
17 long qt syndrome 3 10.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 jervell and lange-nielsen syndrome 1 10.2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
19 brugada syndrome 1 10.1 KCNH2 SCN5A
20 extrinsic cardiomyopathy 10.1 MYH6 TNNI3 TNNI3K
21 syncope 10.1 KCNH2 KCNJ2 KCNQ1 SCN5A TTN
22 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 DSG2 TTN
23 short qt syndrome 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
24 ventricular fibrillation, paroxysmal familial, 1 10.1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A TNNT2
25 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSG2 LMNA PKP2 TTN
26 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSG2 LMNA PKP2 TTN
27 cardiac conduction defect 10.1 KCNH2 KCNQ1 LMNA MYBPC3 MYH7 SCN5A
28 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSG2 LMNA PKP2 TTN
29 cardiac arrest 10.1 KCNH2 KCNQ1 MYBPC3 MYH7 SCN5A TNNT2
30 sick sinus syndrome 10.1 LMNA MYH6 SCN5A TTN
31 long qt syndrome 5 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
32 atrial heart septal defect 10.1 ACTC1 MYH6 TNNI3
33 long qt syndrome 6 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
34 cardiac arrhythmia 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
35 andersen cardiodysrhythmic periodic paralysis 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
36 long qt syndrome 2 10.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
37 heart conduction disease 10.1 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A TNNI3K
38 atrioventricular block 10.1 KCNE1 KCNE2 KCNH2 KCNQ1 LMNA SCN5A
39 catecholaminergic polymorphic ventricular tachycardia 10.1 DSG2 KCNH2 KCNJ2 MYBPC3 SCN5A
40 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 DSG2 KCNH2 KCNJ2 KCNQ1 MYH7 SCN5A
41 cardiomyopathy, dilated, 1e 10.1 LMNA MYH7 SCN5A TPM1 TTN
42 muscular disease 10.0 LMNA MYH6 MYH7 TTN
43 brugada syndrome 10.0 KCNE1 KCNE2 KCNH2 KCNQ1 MYBPC3 PKP2
44 long qt syndrome 1 10.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 PKP2
45 atrial fibrillation 10.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC3
46 campomelic dysplasia 10.0 KCNJ2 LMNA MYBPC3 MYH6 TTN
47 myopathy, distal, 1 10.0 MYH6 MYH7
48 familial atrial fibrillation 10.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
49 long qt syndrome 10.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC3
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

GenomeRNAi Phenotypes related to Intrinsic Cardiomyopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.13 TPM1
2 Decreased viability GR00107-A-1 10.13 TNNI3K
3 Decreased viability GR00221-A-2 10.13 TTN
4 Decreased viability GR00221-A-4 10.13 TTN
5 Decreased viability GR00240-S-1 10.13 LMNA
6 Decreased viability GR00342-S-1 10.13 TNNI3K TTN
7 Decreased viability GR00342-S-3 10.13 TTN
8 Decreased viability GR00381-A-1 10.13 MYBPC2 MYBPC3
9 Decreased viability GR00402-S-2 10.13 ACTC1 CSRP3 DSG2 KCNE1 KCNE2 KCNH2
10 no effect GR00402-S-1 9.62 ACTC1 CSRP3 DSG2 KCNE1 KCNE2 KCNH2

MGI Mouse Phenotypes related to Intrinsic Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 ACTC1 CSRP3 KCNH2 KCNJ2 KCNQ1 LMNA
2 homeostasis/metabolism MP:0005376 9.97 ACTC1 CSRP3 KCNE2 KCNH2 KCNJ2 KCNQ1
3 mortality/aging MP:0010768 9.73 ACTC1 CSRP3 DSG2 KCNH2 KCNJ2 LMNA
4 muscle MP:0005369 9.5 ACTC1 CSRP3 KCNH2 KCNJ2 KCNQ1 LMNA

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, Skin

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 ACTC1 KCNE1 KCNQ1 MYH6 MYH7 SCN5A
2 12.38 ACTC1 LMNA TNNI3 TNNT2 TPM1
3 12.23 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4
Show member pathways
12.16 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 MYBPC2
5
Show member pathways
12.05 ACTC1 LMNA MYBPC3 MYH6 MYH7 TNNI3
6 11.69 ACTC1 MYH6 MYH7 TNNI3 TNNT2 TPM1
7
Show member pathways
11.61 KCNE1 KCNE2 KCNQ1 SCN5A
8 11.55 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LMNA
9 11.53 ACTC1 MYH6 SCN5A TNNI3 TNNT2
10 11.42 ACTC1 MYBPC2 MYBPC3 MYH6 TNNI3 TNNT2
11 10.91 KCNE1 KCNJ2 KCNQ1

GO Terms for Intrinsic Cardiomyopathy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.93 DSG2 KCNE1 KCNE2 KCNH2 SCN5A
2 voltage-gated potassium channel complex GO:0008076 9.77 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 intercalated disc GO:0014704 9.73 DSG2 KCNJ2 PKP2 SCN5A
4 stress fiber GO:0001725 9.67 MYH6 MYH7 TPM1
5 M band GO:0031430 9.63 MYBPC2 MYBPC3 TTN
6 striated muscle thin filament GO:0005865 9.62 MYBPC2 MYBPC3 TNNT2 TTN
7 cardiac myofibril GO:0097512 9.58 MYBPC3 TNNI3 TNNT2
8 myosin filament GO:0032982 9.56 MYBPC2 MYBPC3 MYH6 MYH7
9 Z disc GO:0030018 9.56 CSRP3 KCNE1 MYBPC2 MYBPC3 MYH6 MYH7
10 myofibril GO:0030016 9.55 MYH6 MYH7 TNNI3 TNNT2 TPM1
11 muscle myosin complex GO:0005859 9.52 MYH6 MYH7
12 troponin complex GO:0005861 9.51 TNNI3 TNNT2
13 cardiac Troponin complex GO:1990584 9.48 TNNI3 TNNT2
14 sarcomere GO:0030017 9.32 ACTC1 CSRP3 MYBPC2 MYBPC3 MYH6 MYH7

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.97 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
2 cardiac muscle contraction GO:0060048 9.93 ACTC1 CSRP3 KCNH2 KCNQ1 MYBPC3 MYH6
3 regulation of heart contraction GO:0008016 9.92 KCNQ1 MYH6 TNNT2 TPM1
4 regulation of heart rate GO:0002027 9.92 MYH6 MYH7 SCN5A TNNI3K
5 cardiac muscle tissue morphogenesis GO:0055008 9.91 ACTC1 MYBPC2 MYBPC3 TTN
6 sarcomere organization GO:0045214 9.91 MYBPC2 MYBPC3 MYH6 TNNT2 TPM1 TTN
7 cardiac muscle fiber development GO:0048739 9.9 MYBPC2 MYBPC3 MYH6 TTN
8 striated muscle contraction GO:0006941 9.89 MYH6 MYH7 TNNI3 TTN
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.89 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.88 KCNE1 KCNH2 KCNJ2 KCNQ1
11 potassium ion export across plasma membrane GO:0097623 9.88 KCNE1 KCNE2 KCNH2 KCNQ1
12 cardiac myofibril assembly GO:0055003 9.88 ACTC1 CSRP3 MYBPC2 MYBPC3 TTN
13 skeletal muscle thin filament assembly GO:0030240 9.87 ACTC1 MYBPC2 MYBPC3 TTN
14 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
15 cellular response to drug GO:0035690 9.85 KCNE2 KCNH2 KCNQ1
16 potassium ion export GO:0071435 9.85 KCNE1 KCNE2 KCNH2 KCNQ1
17 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 KCNE1 KCNE2 KCNJ2 PKP2 SCN5A
18 positive regulation of ATPase activity GO:0032781 9.84 MYBPC3 TNNT2 TPM1
19 regulation of membrane repolarization GO:0060306 9.84 KCNE2 KCNH2 KCNJ2 KCNQ1
20 skeletal muscle contraction GO:0003009 9.83 MYH7 TNNI3 TNNT2
21 regulation of potassium ion transmembrane transport GO:1901379 9.83 KCNE1 KCNE2 KCNH2
22 membrane repolarization GO:0086009 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
23 regulation of the force of heart contraction GO:0002026 9.82 CSRP3 MYH6 MYH7
24 regulation of muscle contraction GO:0006937 9.82 TNNI3 TNNT2 TPM1
25 skeletal muscle myosin thick filament assembly GO:0030241 9.81 MYBPC2 MYBPC3 TTN
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.81 KCNE1 KCNH2 KCNJ2 KCNQ1
27 membrane repolarization during action potential GO:0086011 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28 ventricular cardiac muscle cell action potential GO:0086005 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 PKP2 SCN5A
29 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.8 MYBPC3 MYH6 MYH7 PKP2 TNNI3 TNNT2
30 actin filament-based movement GO:0030048 9.71 ACTC1 MYH6
31 membrane depolarization during action potential GO:0086010 9.71 KCNH2 SCN5A
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 9.7 MYH6 MYH7
35 heart contraction GO:0060047 9.7 ACTC1 TNNI3
36 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.7 KCNE1 KCNE2
37 negative regulation of ATPase activity GO:0032780 9.7 TNNI3 TNNT2
38 regulation of cardiac muscle cell contraction GO:0086004 9.69 KCNJ2 SCN5A
39 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 KCNJ2 SCN5A
40 cardiac muscle hypertrophy GO:0003300 9.69 CSRP3 TTN
41 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.68 DSG2 PKP2
42 atrial cardiac muscle cell action potential GO:0086014 9.68 KCNQ1 SCN5A
43 regulation of delayed rectifier potassium channel activity GO:1902259 9.68 KCNE1 KCNE2
44 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.67 DSG2 PKP2
45 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.67 KCNQ1 SCN5A
46 detection of muscle stretch GO:0035995 9.66 CSRP3 TTN
47 muscle filament sliding GO:0030049 9.61 ACTC1 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3
48 regulation of heart rate by cardiac conduction GO:0086091 9.23 DSG2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
49 ion transport GO:0006811 10.14 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
50 regulation of ion transmembrane transport GO:0034765 10.09 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 KCNQ1 MYH6 MYH7 SCN5A TTN
2 actin binding GO:0003779 9.87 CSRP3 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
3 ion channel binding GO:0044325 9.85 KCNE1 KCNE2 KCNQ1 PKP2 SCN5A
4 potassium channel activity GO:0005267 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated ion channel activity GO:0005244 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 voltage-gated potassium channel activity GO:0005249 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
7 scaffold protein binding GO:0097110 9.75 KCNH2 KCNQ1 SCN5A
8 inward rectifier potassium channel activity GO:0005242 9.71 KCNE2 KCNH2 KCNJ2
9 muscle alpha-actinin binding GO:0051371 9.67 MYBPC2 MYBPC3 TTN
10 delayed rectifier potassium channel activity GO:0005251 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
11 microfilament motor activity GO:0000146 9.6 MYH6 MYH7
12 actin-dependent ATPase activity GO:0030898 9.59 MYH6 MYH7
13 actinin binding GO:0042805 9.58 CSRP3 TTN
14 telethonin binding GO:0031433 9.58 CSRP3 KCNE1 TTN
15 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.57 DSG2 PKP2
16 troponin I binding GO:0031013 9.56 TNNI3K TNNT2
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
18 troponin C binding GO:0030172 9.55 TNNI3 TNNT2
19 structural constituent of muscle GO:0008307 9.55 CSRP3 MYBPC2 MYBPC3 TPM1 TTN
20 actin filament binding GO:0051015 9.5 MYBPC2 MYBPC3 MYH6 MYH7 TNNI3 TPM1
21 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 8.92 KCNE1 KCNH2 KCNJ2 KCNQ1
22 protein binding GO:0005515 10.51 CSRP3 KCNE1 KCNE2 KCNH2 KCNQ1 LMNA
23 identical protein binding GO:0042802 10.09 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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