MCID: CRD099
MIFTS: 53

Cardiomyopathy, Dilated, 1e

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 54 13 69
Left Ventricular Noncompaction 5 54 50 24 29 69
Left Ventricular Noncompaction 9 54 24 71 29 69
Cardiomyopathy, Dilated, 1s 54 50 13 69
Cardiomyopathy, Dilated, 1y 54 13 69
Dilated Cardiomyopathy 1e 12 29 14
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 71
Dilated Cardiomyopathy with Conduction Defect 2 12 71
Dilated Cardiomyopathy 1s 12 29
Dilated Cardiomyopathy 1y 12 29
Cdcd2 12 71
Cmd1e 12 71
Cmd1s 12 71
Cmd1y 12 71
Lvnc9 24 71
Cardiomyopathy Dilated with Conduction Defect Type 2 50
Left Ventricular Non-Compaction 9 71
Cardiomyopathy, Dilated 1e 71
Cardiomyopathy, Dilated 1s 71
Cardiomyopathy, Dilated 1y 71
Dilated Cardiomyopathy-1s 50
Lvnc5 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
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 : 71 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 9: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.

MalaCards based summary : Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 5, is related to myh7-related dilated cardiomyopathy and scn5a-associated dilated cardiomyopathy, and has symptoms including dilated cardiomyopathy, atrial fibrillation and atrial flutter. An important gene associated with Cardiomyopathy, Dilated, 1e is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are Decreased cell migration and Increased cell migration

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

Description from OMIM: 601154 613426 611878

Related Diseases for Cardiomyopathy, Dilated, 1e

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 3b Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Dilated Cardiomyopathy 1c
Dilated Cardiomyopathy 1aa Dilated Cardiomyopathy 1b
Dilated Cardiomyopathy 1t Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 myh7-related dilated cardiomyopathy 11.1
2 scn5a-associated dilated cardiomyopathy 11.1
3 scn5a-related dilated cardiomyopathy 11.1
4 campomelic dysplasia 10.9
5 tpm1-related dilated cardiomyopathy 10.8
6 atrial standstill, digenic 10.5 LMNA SCN5A
7 prostate cancer, hereditary, 2 10.5 DSP SCN5A
8 familial thoracic aortic aneurysm and dissection 10.4 NKX2-5 SCN5A
9 ulnar hemimelia, unilateral 10.3 DSP LMNA
10 peroxisomal biogenesis disorders 10.3 MYH7 SCN5A
11 cardiomyopathy, dilated, 1h 10.3 LMNA SNCA
12 ulnar hemimelia, bilateral 10.3 DSP LMNA
13 tibial hemimelia, bilateral 10.3 DSP LMNA
14 chicken egg allergy 10.2 LMNA MYH7 SCN5A TPM1
15 neurodegeneration with brain iron accumulation 10.2 LMNA MEF2A MEF2C
16 second-degree atrioventricular block 10.1 LMNA NKX2-5 SCN5A
17 macroglossia 10.1 MYH7 NKX2-5
18 syne1-related emery-dreifuss muscular dystrophy 10.0 DSP MYH7 SCN5A TPM1
19 tricuspid valve disease 10.0 GJA1 SCN5A
20 pseudoachondroplastic dysplasia 2 10.0 DES LMNA
21 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.0 DES MYH7 RBM20 SCN5A TPM1
22 surfactant metabolism dysfunction, pulmonary, 2 9.9 MEF2A MEF2C NKX2-5
23 ventricular tachycardia, catecholaminergic polymorphic, 1 9.8 GJA1 LMNA MYH7 SCN5A
24 autoimmune disease of skin and connective tissue 9.8 DSP LMNA MYH7 SCN5A TPM1
25 central nervous system hematologic cancer 9.8 CTNNB1 CTNND1
26 mylk-related thoracic aortic aneurysms and aortic dissections 9.7 DES LMNA MYH7 RBM20 SCN5A TPM1
27 sdccag8-related bardet-biedl syndrome 9.7 DES LMNA MYH7 RBM20 SCN5A TPM1
28 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 9.7 DES LMNA MYH7 RBM20 SCN5A TPM1
29 amelogenesis imperfecta 9.7 DSP GJA1 LMNA
30 ichthyosis lamellar 2 9.6 CDH2 GJA1 NKX2-5
31 casr-related disorders 8.6 DES DSP GJA1 LMNA MYH7 RBM20
32 xanthogranulomatous pyelonephritis 8.5 DSP GJA1 LMNA MEF2A MYH7 NKX2-5
33 emery-dreifuss muscular dystrophy 7, ad 8.3 CDH2 CTNNB1 MEF2A MEF2C NKX2-5 SCN5A
34 usher syndrome 8.1 CDH2 CTNNB1 DES DSP GJA1 LMNA
35 ectodermal dysplasia 7.7 DES DSP GJA1 LMNA MEF2A MYH7
36 sudden infant death syndrome 5.0 CDH2 CTNNB1 CTNND1 DES DSP GJA1

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



Diseases related to Cardiomyopathy, Dilated, 1e

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1e

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
decreased left ventricular ejection fraction
atrial fibrillation
atrial flutter
dilated cardiomyopathy (in some patients)
palpitations
more
Cardiovascular- Vascular:
emboli, pulmonary (in some patients)
pulmonary artery hypoplasia (in some patients)


Clinical features from OMIM:

601154 613426 611878

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 atrial fibrillation 32 HP:0005110
3 atrial flutter 32 HP:0004749
4 palpitations 32 HP:0001962
5 syncope 32 HP:0001279
6 coarctation of aorta 32 occasional (7.5%) HP:0001680
7 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
8 congestive heart failure 32 HP:0001635
9 stroke 32 HP:0001297
10 atrioventricular block 32 HP:0001678
11 left ventricular noncompaction 32 occasional (7.5%) HP:0030682
12 right bundle branch block 32 HP:0011712
13 left bundle branch block 32 HP:0011713
14 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
15 tricuspid regurgitation 32 occasional (7.5%) HP:0005180
16 pulmonary artery hypoplasia 32 occasional (7.5%) HP:0004971
17 ventricular tachycardia 32 HP:0004756
18 ventricular extrasystoles 32 HP:0006682
19 reduced systolic function 32 HP:0006673

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 NKX2-5 RBM20 SCN5A SNCA XIRP1 CDH2
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 MEF2A
4 mortality/aging MP:0010768 10.03 CTNNB1 CTNND1 DES DSP GJA1 LMNA
5 muscle MP:0005369 9.97 CDH2 CTNNB1 DES DSP GJA1 LMNA
6 embryo MP:0005380 9.95 CDH2 CTNNB1 DSP GJA1 MEF2C NKX2-5
7 craniofacial MP:0005382 9.91 CTNNB1 DSP GJA1 LMNA MEF2C NKX2-5
8 integument MP:0010771 9.87 CTNNB1 CTNND1 DSP GJA1 LMNA NKX2-5
9 nervous system MP:0003631 9.7 CDH2 CTNNB1 CTNND1 DSP GJA1 LMNA
10 normal MP:0002873 9.23 SCN5A SNCA CTNNB1 GJA1 LMNA MEF2A

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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1s 29
2 Dilated Cardiomyopathy 1e 29
3 Dilated Cardiomyopathy 1y 29
4 Left Ventricular Noncompaction 5 29 24 MYH7
5 Left Ventricular Noncompaction 9 29 24 TPM1

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1e

Variations for Cardiomyopathy, Dilated, 1e

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

71 (show all 28)
id 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
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.Arg1359Cys VAR_073883 rs45451303
21 MYH7 p.Glu1573Lys VAR_073884 rs750987717
22 MYH7 p.Ser1776Thr VAR_073885
23 MYH7 p.Asn1918Lys VAR_073888
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 all 40)
id 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 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
3 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
4 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
5 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
6 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
7 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
8 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
9 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
10 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
11 MYH7 MYH7, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
12 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
13 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
14 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
15 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
16 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
17 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
18 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
19 MYH7 NM_000257.3(MYH7): c.847T> G (p.Tyr283Asp) single nucleotide variant Pathogenic rs397515482 GRCh37 Chromosome 14, 23900158: 23900158
20 MYH7 NM_000257.2(MYH7): c.5754C> R (p.Asn1918Lys) single nucleotide variant Pathogenic rs138110910 GRCh38 Chromosome 14, 23413795: 23413795
21 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
22 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
23 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
24 MYH7 NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys) single nucleotide variant Pathogenic rs727503253 GRCh37 Chromosome 14, 23893328: 23893328
25 SCN5A NM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs) duplication Pathogenic rs397514450 GRCh37 Chromosome 3, 38627418: 38627419
26 TTN NM_001256850.1(TTN): c.82432delG (p.Ala27478Leufs) deletion Pathogenic/Likely pathogenic rs794729356 GRCh37 Chromosome 2, 179422726: 179422726
27 TTN NM_001256850.1(TTN): c.46513+1G> A single nucleotide variant Likely pathogenic rs761807131 GRCh37 Chromosome 2, 179474816: 179474816
28 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
29 TPM1 NM_001018004.1(TPM1): c.519G> C (p.Glu173Asp) single nucleotide variant Likely pathogenic rs886037905 GRCh38 Chromosome 15, 63060895: 63060895
30 TTN NM_001267550.2(TTN): c.65035_65036delGC (p.Ala21679Leufs) deletion Likely pathogenic rs1114167323 GRCh38 Chromosome 2, 178584515: 178584516
31 TTN NM_001267550.2(TTN): c.61682C> G (p.Ser20561Ter) single nucleotide variant Likely pathogenic rs1114167324 GRCh38 Chromosome 2, 178590043: 178590043
32 TTN NM_001267550.2(TTN): c.54768delT (p.Ser18258Valfs) deletion Likely pathogenic rs1114167335 GRCh37 Chromosome 2, 179468646: 179468646
33 TTN NM_001267550.2(TTN): c.42909_42910delTG (p.Cys14303Trpfs) deletion Likely pathogenic rs1114167333 GRCh37 Chromosome 2, 179498176: 179498177
34 TTN NM_001267550.2(TTN): c.12438_12448delATCTCCCAACC (p.Ser4147Thrfs) deletion Likely pathogenic rs1114167330 GRCh37 Chromosome 2, 179605512: 179605522
35 DES NM_001927.3(DES): c.407T> C (p.Leu136Pro) single nucleotide variant Likely pathogenic rs397516695 GRCh37 Chromosome 2, 220283591: 220283591
36 DES NM_001927.3(DES): c.493_520del28insGCGT (p.Gln165_Ala174delinsAlaSer) indel Pathogenic rs1114167332 GRCh37 Chromosome 2, 220283677: 220283704
37 DES NM_001927.3(DES): c.1332_1335delGACG (p.Thr445Terfs) deletion Pathogenic rs1114167327 GRCh38 Chromosome 2, 219425706: 219425709
38 RBM20 NM_001134363.2(RBM20): c.1904C> G (p.Ser635Cys) single nucleotide variant Likely pathogenic rs1114167331 GRCh37 Chromosome 10, 112572059: 112572059
39 PKP2 NM_004572.3(PKP2): c.2035C> T (p.His679Tyr) single nucleotide variant Likely pathogenic rs757922359 GRCh38 Chromosome 12, 32821466: 32821466
40 MYH7 NM_000257.3(MYH7): c.5390T> C (p.Leu1797Pro) single nucleotide variant Likely pathogenic rs1114167322 GRCh38 Chromosome 14, 23415164: 23415164

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 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 MEF2A MEF2C MYH7 SCN5A TPM1
2 12.36 CTNND1 DES GJA1 LMNA TPM1
3
Show member pathways
12.32 CTNNB1 MEF2C MYH7 NKX2-5
4
Show member pathways
12.2 CDH2 CTNNB1 DES DSP GJA1 LMNA
5 12.06 CTNNB1 GJA1 MEF2C SCN5A
6
Show member pathways
12.02 CDH2 CTNNB1 GJA1
7 11.97 CDH2 CTNNB1 MEF2A MEF2C
8 11.92 CTNNB1 MEF2A MEF2C
9 11.92 CTNNB1 LMNA MEF2A MEF2C
10 11.9 GJA1 MEF2C NKX2-5
11 11.85 CDH2 CTNNB1 MEF2A MEF2C
12
Show member pathways
11.83 CTNNB1 DSP LMNA
13 11.7 CDH2 CTNNB1 CTNND1 DSP GJA1
14 11.47 MEF2C NKX2-5 SCN5A
15 11.42 DSP GJA1 LMNA SCN5A
16 11.4 CTNNB1 MEF2C NKX2-5
17 11.34 CDH2 DES GJA1 MEF2C NKX2-5
18 11.31 CDH2 CTNNB1 CTNND1
19 11.3 CDH2 CTNNB1 CTNND1
20 10.98 CDH2 CTNNB1 CTNND1 GJA1
21 10.95 MEF2C MYH7 NKX2-5
22 10.69 MEF2A MEF2C NKX2-5
23 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:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.85 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
2 sarcolemma GO:0042383 9.61 CDH2 DES SCN5A
3 Z disc GO:0030018 9.56 CTNNB1 DES MYH7 SCN5A
4 cell-cell junction GO:0005911 9.55 CDH2 CTNNB1 CTNND1 DES DSP
5 stress fiber GO:0001725 9.5 MYH7 TPM1 XIRP1
6 intercalated disc GO:0014704 9.43 CDH2 CTNNB1 DES DSP GJA1 SCN5A
7 catenin complex GO:0016342 9.4 CDH2 CTNNB1
8 fascia adherens GO:0005916 9.02 CDH2 CTNNB1 DES DSP GJA1

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.92 CTNNB1 LMNA MEF2C NKX2-5
2 single organismal cell-cell adhesion GO:0016337 9.77 CTNNB1 CTNND1 DSP
3 cellular response to calcium ion GO:0071277 9.65 MEF2A MEF2C SCN5A
4 regulation of neurotransmitter secretion GO:0046928 9.62 MEF2C SNCA
5 muscle contraction GO:0006936 9.62 DES GJA1 MYH7 TPM1
6 embryonic heart tube development GO:0035050 9.61 CTNNB1 NKX2-5
7 intermediate filament organization GO:0045109 9.61 DES DSP
8 positive regulation of sodium ion transport GO:0010765 9.6 NKX2-5 SCN5A
9 smooth muscle cell differentiation GO:0051145 9.58 CTNNB1 MEF2C
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 MEF2C MYH7
11 muscle filament sliding GO:0030049 9.58 DES MYH7 TPM1
12 synaptic vesicle transport GO:0048489 9.57 CTNNB1 SNCA
13 entry of bacterium into host cell GO:0035635 9.56 CTNNB1 CTNND1
14 cardiac muscle contraction GO:0060048 9.56 MYH7 NKX2-5 SCN5A TPM1
15 adult heart development GO:0007512 9.55 MYH7 NKX2-5
16 ventricular cardiac muscle cell development GO:0055015 9.54 LMNA NKX2-5
17 atrial cardiac muscle cell action potential GO:0086014 9.52 GJA1 SCN5A
18 positive regulation of skeletal muscle tissue development GO:0048643 9.49 CTNNB1 MEF2C
19 positive regulation of behavioral fear response GO:2000987 9.46 GJA1 MEF2C
20 adherens junction organization GO:0034332 9.46 CDH2 CTNNB1 CTNND1 DSP
21 cardiac ventricle formation GO:0003211 9.43 MEF2C NKX2-5
22 ventricular cardiac myofibril assembly GO:0055005 9.37 MEF2A NKX2-5
23 positive regulation of muscle cell differentiation GO:0051149 9.26 CDH2 CTNNB1 MEF2A MEF2C
24 cellular response to parathyroid hormone stimulus GO:0071374 9.21 MEF2C
25 heart development GO:0007507 9.17 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 RBM20
26 negative regulation of transcription from RNA polymerase II promoter GO:0000122 10.03 CTNNB1 MEF2A MEF2C NKX2-5 SNCA

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 CDH2 CTNNB1 CTNND1 DES DSP GJA1
2 enzyme binding GO:0019899 9.76 CDH2 CTNNB1 SCN5A SNCA
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.73 CTNNB1 MEF2A MEF2C NKX2-5
4 protein heterodimerization activity GO:0046982 9.62 CTNNB1 MEF2A MEF2C NKX2-5
5 structural constituent of cytoskeleton GO:0005200 9.58 DES DSP TPM1
6 transcription regulatory region DNA binding GO:0044212 9.56 CTNNB1 MEF2C NKX2-5 SNCA
7 alpha-catenin binding GO:0045294 9.37 CDH2 CTNNB1
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 MEF2A MEF2C NKX2-5
9 protein kinase binding GO:0019901 9.02 CDH2 CTNNB1 CTNND1 MEF2A SCN5A

Sources for Cardiomyopathy, Dilated, 1e

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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