CMD1S
MCID: CRD099
MIFTS: 56

Cardiomyopathy, Dilated, 1e (CMD1S)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 58 13 74
Left Ventricular Noncompaction 9 58 76 30 6 74
Left Ventricular Noncompaction 5 58 54 30 6 74
Cardiomyopathy, Dilated, 1s 58 54 13 74
Dilated Cardiomyopathy 1e 12 30 6 15
Cardiomyopathy, Dilated, 1y 58 13 74
Dilated Cardiomyopathy 1s 12 30 6
Dilated Cardiomyopathy 1y 12 30 6
Cmd1e 58 12 76
Cdcd2 58 12 76
Cmd1y 58 12 76
Cmd1s 58 12 76
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 76
Dilated Cardiomyopathy with Conduction Defect 2 12 76
Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia 58
Cardiomyopathy, Dilated, with Conduction Defect 2; Cdcd2 58
Cardiomyopathy Dilated with Conduction Defect Type 2 54
Cardiomyopathy, Dilated, with Conduction Defect 2 58
Cardiomyopathy, Dilated, Type 1s ) 41
Left Ventricular Non-Compaction 5 76
Left Ventricular Non-Compaction 9 76
Cardiomyopathy, Dilated, Type 1e 41
Cardiomyopathy, Dilated, Type 1y 41
Cardiomyopathy, Dilated 1e 76
Cardiomyopathy, Dilated 1s 76
Cardiomyopathy, Dilated 1y 76
Dilated Cardiomyopathy-1s 54
Lvnc5 76
Lvnc9 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients may require implantable cardioverter defibrillators
may result in sudden death


HPO:

33
cardiomyopathy, dilated, 1e:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1y:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1s:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1e

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1E: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Left ventricular non-compaction 5: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. Left ventricular non-compaction 9: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition.

MalaCards based summary : Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 9, is related to campomelic dysplasia and first-degree atrioventricular block, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1e is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Cardiac conduction and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are bicuspid aortic valve and coarctation of aorta

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the SCN5A gene on chromosome 3p22.2.

Description from OMIM: 601154 611878 613426

Related Diseases for Cardiomyopathy, Dilated, 1e

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 32.4 LMNA RBM20 TTN
2 first-degree atrioventricular block 10.3 MYH7 SCN5A
3 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DES TTN
4 pulmonary valve stenosis 10.3 RBM20 SCN5A
5 familial progressive cardiac conduction defect 10.3 NKX2-5 SCN5A
6 reducing body myopathy 10.3 DES TTN
7 myopathy, spheroid body 10.2 DES MYH7 TTN
8 sick sinus syndrome 10.2 LMNA SCN5A TTN
9 proximal spinal muscular atrophy 10.2 DES LMNA
10 cardiomyopathy, familial hypertrophic, 1 10.2 MYH7 TPM1 TTN
11 peripartum cardiomyopathy 10.2 MYH7 TTN
12 arrhythmogenic right ventricular dysplasia, familial, 1 10.2 DSP TTN
13 cardiomyopathy, dilated, 1h 10.2 LMNA SNCA
14 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 DSP MYH7 SCN5A
15 myofibrillar myopathy 10.1 DES LMNA TTN
16 neuromuscular disease 10.1 DES LMNA TTN
17 ebstein anomaly 10.1 MYH7 NKX2-5 TPM1
18 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP LMNA TTN
19 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP LMNA TTN
20 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSP LMNA TTN
21 muscular dystrophy, congenital, lmna-related 10.1 LMNA MEF2C TTN
22 restrictive cardiomyopathy 10.1 DES MYH7 TPM1 TTN
23 atrioventricular block 10.1 LMNA NKX2-5 SCN5A
24 progressive familial heart block 10.1 DSP SCN5A
25 cardiac arrest 10.1 DSP MYH7 SCN5A
26 ventricular fibrillation, paroxysmal familial, 1 10.0 DSP NKX2-5 SCN5A
27 cardiac conduction defect 10.0 DSP LMNA MYH7 SCN5A
28 sinoatrial node disease 9.9 GJA1 SCN5A
29 pulmonary sclerosing hemangioma 9.8 CTNNB1 CTNND1
30 familial isolated dilated cardiomyopathy 9.8 DES MYH7 RBM20 SCN5A TPM1 TTN
31 cardiomyopathy, dilated, with woolly hair and keratoderma 9.8 CDH2 DSP GJA1
32 atrial standstill 1 9.7 DES DSP LMNA MYH7 SCN5A TTN
33 hypoplastic left heart syndrome 9.7 CDH2 GJA1 NKX2-5
34 pseudosarcomatous fibromatosis 9.7 CTNNB1 DES
35 arrhythmogenic right ventricular dysplasia, familial, 5 9.6 CDH2 MEF2C NKX2-5 SCN5A XIRP1
36 hypertrophic cardiomyopathy 9.6 DES DSP LMNA MYH7 SCN5A TPM1
37 intrinsic cardiomyopathy 9.6 DSP LMNA MYH7 RBM20 SCN5A TPM1
38 heart disease 9.2 DSP GJA1 LMNA MYH7 NKX2-5 SCN5A
39 left ventricular noncompaction 9.1 DES DSP LMNA MYH7 NKX2-5 SCN5A
40 dilated cardiomyopathy 8.5 CDH2 DES DSP GJA1 LMNA MYH7
41 arrhythmogenic right ventricular cardiomyopathy 8.4 CDH2 CTNNB1 DES DSP GJA1 LMNA

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1e:



Diseases related to Cardiomyopathy, Dilated, 1e

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1e

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
2 coarctation of aorta 33 occasional (7.5%) HP:0001680
3 tricuspid regurgitation 33 occasional (7.5%) HP:0005180
4 pulmonary artery hypoplasia 33 occasional (7.5%) HP:0004971
5 ventricular arrhythmia 33 occasional (7.5%) HP:0004308
6 left ventricular noncompaction 33 occasional (7.5%) HP:0030682
7 mitral regurgitation 33 very rare (1%) HP:0001653
8 atrioventricular block 33 HP:0001678
9 congestive heart failure 33 HP:0001635
10 dilated cardiomyopathy 33 HP:0001644
11 stroke 33 HP:0001297
12 syncope 33 HP:0001279
13 atrial fibrillation 33 HP:0005110
14 right bundle branch block 33 HP:0011712
15 supraventricular tachycardia 33 HP:0004755
16 ventricular tachycardia 33 HP:0004756
17 ventricular extrasystoles 33 HP:0006682
18 reduced systolic function 33 HP:0006673
19 palpitations 33 HP:0001962
20 atrial flutter 33 HP:0004749
21 atrial standstill 33 HP:0025478
22 left bundle branch block 33 HP:0011713
23 premature atrial contractions 33 HP:0006699

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrioventricular block
syncope
atrial fibrillation
right bundle branch block
palpitations
more

Clinical features from OMIM:

601154 611878 613426

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.35 CDH2 CTNNB1 CTNND1 GJA1 TPM1
2 Increased cell migration GR00055-A-3 9.02 CDH2 CTNNB1 CTNND1 GJA1 TPM1

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1e:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 CDH2 CTNNB1 DES DSP GJA1 LMNA
2 cellular MP:0005384 10.2 CDH2 CTNNB1 CTNND1 DES DSP GJA1
3 growth/size/body region MP:0005378 10.11 CDH2 CTNNB1 DSP GJA1 LMNA MEF2C
4 mortality/aging MP:0010768 10.03 CDH2 CTNNB1 CTNND1 DES DSP GJA1
5 embryo MP:0005380 10.01 CDH2 CTNNB1 DSP GJA1 MEF2C NKX2-5
6 craniofacial MP:0005382 9.98 CTNNB1 DSP GJA1 LMNA MEF2C NKX2-5
7 muscle MP:0005369 9.97 CDH2 CTNNB1 DES DSP GJA1 LMNA
8 integument MP:0010771 9.87 CTNNB1 CTNND1 DSP GJA1 LMNA NKX2-5
9 nervous system MP:0003631 9.65 CDH2 CTNNB1 CTNND1 DSP GJA1 LMNA
10 normal MP:0002873 9.23 CTNNB1 GJA1 LMNA MEF2C NKX2-5 SCN5A

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1e

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1e

Genetic Tests for Cardiomyopathy, Dilated, 1e

Genetic tests related to Cardiomyopathy, Dilated, 1e:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1s 30 MYH7
2 Dilated Cardiomyopathy 1e 30 SCN5A
3 Dilated Cardiomyopathy 1y 30 TPM1
4 Left Ventricular Noncompaction 5 30
5 Left Ventricular Noncompaction 9 30

Anatomical Context for Cardiomyopathy, Dilated, 1e

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1e:

42
Heart

Publications for Cardiomyopathy, Dilated, 1e

Articles related to Cardiomyopathy, Dilated, 1e:

(show all 24)
# Title Authors Year
1
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. ( 29024827 )
2018
2
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. ( 22999724 )
2012
3
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. ( 22710484 )
2012
4
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. ( 22766342 )
2012
5
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. ( 21127202 )
2011
6
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. ( 21551322 )
2011
7
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. ( 19138847 )
2009
8
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. ( 19336582 )
2009
9
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. ( 19412328 )
2008
10
Mutations in sarcomere protein genes in left ventricular noncompaction. ( 18506004 )
2008
11
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. ( 16684018 )
2006
12
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. ( 16684601 )
2006
13
Letter regarding article by McNair et al, "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". ( 15998690 )
2005
14
Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )
2005
15
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. ( 15671429 )
2005
16
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. ( 15466643 )
2004
17
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. ( 12522116 )
2003
18
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). ( 14523039 )
2003
19
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. ( 12749056 )
2003
20
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. ( 12379228 )
2002
21
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. ( 11273725 )
2001
22
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. ( 11106718 )
2000
23
Familial automaticity-conduction disorder with associated cardiomyopathy. ( 3953067 )
1986
24
Familial myopathy with probable lysis of myofibrils in type I fibers. ( 4104682 )
1971

Variations for Cardiomyopathy, Dilated, 1e

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1e:

76 (show all 28)
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Ala223Thr VAR_017746 rs121913645
2 MYH7 p.Ser532Pro VAR_017747 rs121913642
3 MYH7 p.Ser642Leu VAR_017748 rs121913646
4 MYH7 p.Phe764Leu VAR_017751 rs121913643
5 MYH7 p.Ile201Thr VAR_042768 rs397516258
6 MYH7 p.Thr412Asn VAR_042781
7 MYH7 p.Ala550Val VAR_042794
8 MYH7 p.Thr1019Asn VAR_042819 rs755392435
9 MYH7 p.Arg1193Ser VAR_042822 rs886039090
10 MYH7 p.Glu1426Lys VAR_042826 rs397516208
11 MYH7 p.Lys1459Asn VAR_042828 rs201307101
12 MYH7 p.Arg1634Cys VAR_042833 rs397516232
13 MYH7 p.Val1044Ala VAR_067260
14 MYH7 p.Ala1263Glu VAR_067262 rs758889483
15 MYH7 p.Leu1297Val VAR_067263
16 MYH7 p.Arg243His VAR_073876 rs267606910
17 MYH7 p.Tyr283Asp VAR_073877 rs397515482
18 MYH7 p.Tyr350Asn VAR_073878
19 MYH7 p.Leu390Pro VAR_073879
20 MYH7 p.Glu1573Lys VAR_073884 rs750987717
21 MYH7 p.Ser1776Thr VAR_073885
22 MYH7 p.Asn1918Lys VAR_073888
23 MYH7 p.Phe252Leu VAR_080399
24 SCN5A p.Asp1275Asn VAR_026373 rs137854618
25 TPM1 p.Glu40Lys VAR_043986 rs104894501
26 TPM1 p.Glu54Lys VAR_043987 rs104894505
27 TPM1 p.Glu192Lys VAR_070121 rs199476315
28 TPM1 p.Lys248Glu VAR_070122 rs199476319

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1e:

6 (show top 50) (show all 238)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh37 Chromosome 10, 112572068: 112572068
2 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh38 Chromosome 10, 110812310: 110812310
3 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh37 Chromosome 1, 78408441: 78408441
4 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh38 Chromosome 1, 77942756: 77942756
5 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
6 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
7 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
8 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
9 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
10 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
11 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh37 Chromosome 3, 52485426: 52485426
12 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh38 Chromosome 3, 52451410: 52451410
13 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
14 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh38 Chromosome 15, 63044072: 63044072
15 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
16 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh38 Chromosome 15, 63044030: 63044030
17 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
18 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
19 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
20 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
21 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
22 MYH7 NM_000257.4(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
23 MYH7 NM_000257.4(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
24 MYH7 NM_000257.4(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh38 Chromosome 14, 23427879: 23427879
25 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
26 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh38 Chromosome 14, 23425413: 23425413
27 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
28 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh38 Chromosome 14, 23431650: 23431650
29 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
30 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh38 Chromosome 14, 23427271: 23427271
31 MYH7 NM_000257.2(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
32 MYH7 NM_000257.2(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh38 Chromosome 14, 23415176: 23415176
33 MYH7 NM_000257.4(MYH7): c.2717A> G (p.Asp906Gly) single nucleotide variant Pathogenic rs267606908 GRCh37 Chromosome 14, 23893321: 23893321
34 MYH7 NM_000257.4(MYH7): c.2717A> G (p.Asp906Gly) single nucleotide variant Pathogenic rs267606908 GRCh38 Chromosome 14, 23424112: 23424112
35 MYH7 NM_000257.3(MYH7): c.728G> A (p.Arg243His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606910 GRCh37 Chromosome 14, 23900798: 23900798
36 MYH7 NM_000257.3(MYH7): c.728G> A (p.Arg243His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606910 GRCh38 Chromosome 14, 23431589: 23431589
37 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh38 Chromosome 14, 23431584: 23431584
38 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh37 Chromosome 14, 23900793: 23900793
39 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
40 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh38 Chromosome 14, 23415258: 23415258
41 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
42 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
43 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Pathogenic/Likely pathogenic rs199476315 GRCh37 Chromosome 15, 63353922: 63353922
44 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Pathogenic/Likely pathogenic rs199476315 GRCh38 Chromosome 15, 63061723: 63061723
45 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
46 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh38 Chromosome 15, 63062615: 63062615
47 MYH7 NM_000257.4(MYH7): c.3981C> A (p.Asn1327Lys) single nucleotide variant Uncertain significance rs141764279 GRCh37 Chromosome 14, 23887607: 23887607
48 MYH7 NM_000257.4(MYH7): c.3981C> A (p.Asn1327Lys) single nucleotide variant Uncertain significance rs141764279 GRCh38 Chromosome 14, 23418398: 23418398
49 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
50 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781

Expression for Cardiomyopathy, Dilated, 1e

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1e.

Pathways for Cardiomyopathy, Dilated, 1e

Pathways related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 DES NKX2-5 SCN5A TPM1 TTN
2 12.32 CTNND1 DES GJA1 LMNA TPM1
3
Show member pathways
12.3 CTNNB1 MEF2C MYH7 NKX2-5
4
Show member pathways
12.04 CDH2 CTNNB1 DES DSP GJA1 LMNA
5 12.01 CTNNB1 GJA1 MEF2C SCN5A
6
Show member pathways
12.01 DES LMNA MYH7 TPM1 TTN
7 11.94 CDH2 CTNNB1 MEF2C
8 11.9 GJA1 MEF2C NKX2-5
9 11.89 CTNNB1 LMNA MEF2C
10 11.85 CDH2 CTNNB1 MEF2C
11
Show member pathways
11.82 CTNNB1 DSP LMNA
12 11.74 CDH2 CTNNB1 CTNND1 DSP GJA1
13 11.57 DES TPM1 TTN
14 11.42 MEF2C NKX2-5 SCN5A
15 11.37 DSP GJA1 LMNA SCN5A
16 11.35 CTNNB1 MEF2C NKX2-5
17 11.26 CDH2 CTNNB1 CTNND1
18 11.23 CDH2 CTNNB1 CTNND1
19 10.92 MEF2C MYH7 NKX2-5
20 10.78 CDH2 CTNNB1 CTNND1 GJA1
21 10.68 MEF2C NKX2-5
22 10.53 CDH2 CTNNB1 CTNND1 DSP GJA1

GO Terms for Cardiomyopathy, Dilated, 1e

Cellular components related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.91 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
2 focal adhesion GO:0005925 9.87 CDH2 CTNNB1 GJA1 XIRP1
3 intermediate filament GO:0005882 9.71 DES DSP GJA1 LMNA
4 sarcolemma GO:0042383 9.7 CDH2 DES SCN5A
5 cell-cell adherens junction GO:0005913 9.69 CDH2 CTNNB1 CTNND1
6 sarcomere GO:0030017 9.67 MYH7 TPM1 TTN
7 stress fiber GO:0001725 9.65 MYH7 TPM1 XIRP1
8 Z disc GO:0030018 9.65 CTNNB1 DES MYH7 SCN5A TTN
9 lateral plasma membrane GO:0016328 9.63 CTNNB1 GJA1 SCN5A
10 cell-cell junction GO:0005911 9.63 CDH2 CTNNB1 CTNND1 DES DSP GJA1
11 contractile fiber GO:0043292 9.56 DES GJA1
12 postsynaptic density, intracellular component GO:0099092 9.55 CTNNB1 CTNND1
13 presynaptic active zone cytoplasmic component GO:0098831 9.54 CTNNB1 CTNND1
14 catenin complex GO:0016342 9.5 CDH2 CTNNB1 CTNND1
15 intercalated disc GO:0014704 9.43 CDH2 CTNNB1 DES DSP GJA1 SCN5A
16 fascia adherens GO:0005916 9.02 CDH2 CTNNB1 DES DSP GJA1
17 cytoplasm GO:0005737 10.18 CDH2 CTNNB1 CTNND1 DES DSP GJA1

Biological processes related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 CTNNB1 GJA1 LMNA MEF2C NKX2-5 TTN
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.83 CDH2 CTNND1 NKX2-5
3 neuron migration GO:0001764 9.81 CTNNB1 GJA1 MEF2C
4 cell-cell adhesion GO:0098609 9.8 CDH2 CTNNB1 CTNND1 DSP
5 heart looping GO:0001947 9.74 GJA1 MEF2C NKX2-5
6 positive regulation of osteoblast differentiation GO:0045669 9.73 CTNNB1 GJA1 MEF2C
7 sarcomere organization GO:0045214 9.69 NKX2-5 TPM1 TTN
8 cardiac muscle cell differentiation GO:0055007 9.68 MEF2C NKX2-5
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.67 MYH7 TPM1
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 GJA1 SCN5A
11 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.67 MEF2C TPM1
12 regulation of neurotransmitter secretion GO:0046928 9.66 MEF2C SNCA
13 cardiac muscle tissue morphogenesis GO:0055008 9.66 NKX2-5 TTN
14 intermediate filament organization GO:0045109 9.65 DES DSP
15 positive regulation of sodium ion transport GO:0010765 9.65 NKX2-5 SCN5A
16 regulation of heart contraction GO:0008016 9.65 DES GJA1 TPM1
17 striated muscle contraction GO:0006941 9.64 MYH7 TTN
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MEF2C MYH7
19 synaptic vesicle transport GO:0048489 9.63 CTNNB1 SNCA
20 positive regulation of muscle cell differentiation GO:0051149 9.63 CDH2 CTNNB1 MEF2C
21 smooth muscle cell differentiation GO:0051145 9.62 CTNNB1 MEF2C
22 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.62 GJA1 SCN5A
23 adherens junction organization GO:0034332 9.62 CDH2 CTNNB1 CTNND1 DSP
24 ventricular cardiac muscle cell development GO:0055015 9.61 LMNA NKX2-5
25 atrial cardiac muscle cell action potential GO:0086014 9.61 GJA1 SCN5A
26 embryonic heart tube development GO:0035050 9.61 CTNNB1 GJA1 NKX2-5
27 cellular response to parathyroid hormone stimulus GO:0071374 9.6 GJA1 MEF2C
28 positive regulation of skeletal muscle tissue development GO:0048643 9.59 CTNNB1 MEF2C
29 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 GJA1 SCN5A
30 entry of bacterium into host cell GO:0035635 9.58 CTNNB1 CTNND1
31 muscle filament sliding GO:0030049 9.56 DES MYH7 TPM1 TTN
32 positive regulation of behavioral fear response GO:2000987 9.55 GJA1 MEF2C
33 muscle contraction GO:0006936 9.55 DES GJA1 MYH7 TPM1 TTN
34 cardiac ventricle formation GO:0003211 9.54 MEF2C NKX2-5
35 adult heart development GO:0007512 9.54 GJA1 MYH7 NKX2-5
36 regulation of transmembrane transporter activity GO:0022898 9.52 GJA1 SNCA
37 heart development GO:0007507 9.43 CTNNB1 GJA1 MEF2C NKX2-5 RBM20 XIRP1
38 cardiac muscle contraction GO:0060048 9.02 MYH7 NKX2-5 SCN5A TPM1 TTN

Molecular functions related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 CDH2 CTNNB1 CTNND1 DES DSP GJA1
2 actin binding GO:0003779 9.76 MYH7 SNCA TPM1 XIRP1
3 protein kinase binding GO:0019901 9.72 CDH2 CTNNB1 CTNND1 SCN5A TTN
4 structural constituent of cytoskeleton GO:0005200 9.61 DES DSP TPM1
5 cytoskeletal protein binding GO:0008092 9.58 CDH2 DES TPM1
6 actin filament binding GO:0051015 9.46 MYH7 TPM1 TTN XIRP1
7 scaffold protein binding GO:0097110 9.43 DSP GJA1 SCN5A
8 alpha-catenin binding GO:0045294 9.37 CDH2 CTNNB1
9 enzyme binding GO:0019899 9.02 CDH2 CTNNB1 SCN5A SNCA TTN

Sources for Cardiomyopathy, Dilated, 1e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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