MCID: CRD099
MIFTS: 45

Cardiomyopathy, Dilated, 1e malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

About this section

Aliases & Descriptions for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 49 11
Left Ventricular Noncompaction 5 49 22 24 65
Left Ventricular Noncompaction 9 49 22 67
Cardiomyopathy, Dilated, 1y 49 11 24
Cardiomyopathy, Dilated, 1s 49 11
Lvnc9 22 67
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 67
Cardiomyopathy Dilated with Conduction Defect Type 2 45
Dilated Cardiomyopathy with Conduction Defect 2 67
 
Left Ventricular Non-Compaction 9 67
Cardiomyopathy, Dilated 1e 67
Cardiomyopathy, Dilated 1s 67
Cardiomyopathy, Dilated 1y 67
Cmd1e 67
Cdcd2 67
Cmd1y 67
Cmd1s 67
Lvnc5 22


Classifications:



Summaries for Cardiomyopathy, Dilated, 1e

About this section
UniProtKB/Swiss-Prot:67 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 bicuspid aortic valve, coarctation of aorta and ventricular arrhythmia. An important gene associated with Cardiomyopathy, Dilated, 1e is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways are Cardiac muscle contraction and cGMP-PKG signaling pathway. Affiliated tissues include heart.

Descriptions from OMIM:49 601154,613426,611878

Related Diseases for Cardiomyopathy, Dilated, 1e

About this section

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, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-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 Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-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 31)
idRelated DiseaseScoreTop Affiliating Genes
1myh7-related dilated cardiomyopathy10.3
2scn5a-associated dilated cardiomyopathy10.3
3scn5a-related dilated cardiomyopathy10.3
4campomelic dysplasia10.2
5cardiomyopathy, dilated, 1a10.1
6left ventricular noncompaction 1, with or without congenital heart defects10.1
7tpm1-related dilated cardiomyopathy10.1
8heart block, progressive, type ia10.1KRT81, SCN5A
9ventricular fibrillation, familial, 110.1KRT81, SCN5A
10sick sinus syndrome 110.0KRT81, SCN5A
11atrial fibrillation, familial, 1010.0KRT81, SCN5A
12long qt syndrome-310.0KRT81, SCN5A
13brugada syndrome 110.0KRT81, SCN5A
14nephrogenic adenoma of urinary bladder10.0MYH7, SCN5A
15sudden infant death syndrome9.9KRT81, SCN5A
16congenital hemolytic anemia9.9MYH7, SCN5A
17rete ovarii adenoma9.8MYH7, TPM1
18cardiomyopathy, familial hypertrophic9.8MYH7, TPM1
19invasive bladder transitional cell carcinoma9.8MYH7, TPM1
20muscular dystrophy9.7MYH7, TPM1
21myh7-related familial hypertrophic cardiomyopathy9.7MYH7, SCN5A, TPM1
22scn5a-related brugada syndrome9.7MYH7, SCN5A, TPM1
23scn5a-related romano ward syndrome9.7MYH7, SCN5A, TPM1
24sulfate transporter-related osteochondrodysplasia9.7MYH7, SCN5A, TPM1
25left-sided gallbladder9.7MYH7, SCN5A, TPM1
26septate vagina9.7MYH7, SCN5A, TPM1
27noonan syndrome 19.7MYH7, SCN5A, TPM1
28fat necrosis of breast9.6MYH7, TPM1
29drug-induced hepatitis9.6MYH7, SCN5A, TPM1
30cardiomyopathy with or without skeletal myopathy9.6MYH7, SCN5A, TPM1
31cardiomyopathy, dilated, 1e9.5KRT81, MYH7, SCN5A, TPM1

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



Diseases related to cardiomyopathy, dilated, 1e

Symptoms for Cardiomyopathy, Dilated, 1e

About this section

Symptoms by clinical synopsis from OMIM:

601154

Clinical features from OMIM:

601154,613426,611878

HPO human phenotypes related to Cardiomyopathy, Dilated, 1e:

(show all 18)
id Description Frequency HPO Source Accession
1 bicuspid aortic valve rare (5%) HP:0001647
2 coarctation of aorta rare (5%) HP:0001680
3 ventricular arrhythmia rare (5%) HP:0004308
4 pulmonary artery hypoplasia rare (5%) HP:0004971
5 tricuspid regurgitation rare (5%) HP:0005180
6 autosomal dominant inheritance HP:0000006
7 syncope HP:0001279
8 stroke HP:0001297
9 dilated cardiomyopathy HP:0001644
10 atrioventricular block HP:0001678
11 palpitations HP:0001962
12 atrial flutter HP:0004749
13 atrial fibrillation HP:0005110
14 reduced systolic function HP:0006673
15 right bundle branch block HP:0011712
16 left bundle branch block HP:0011713
17 congestive heart failure HP:0001635
18 ventricular tachycardia HP:0004756

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1e

About this section

Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1e

About this section

Genetic tests related to Cardiomyopathy, Dilated, 1e:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 522 24 MYH7
2 Left Ventricular Noncompaction 922 TPM1
3 Dilated Cardiomyopathy 1e24
4 Dilated Cardiomyopathy 1s24
5 Dilated Cardiomyopathy 1y24

Anatomical Context for Cardiomyopathy, Dilated, 1e

About this section

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

33
Heart

Animal Models for Cardiomyopathy, Dilated, 1e or affiliated genes

About this section

Publications for Cardiomyopathy, Dilated, 1e

About this section

Variations for Cardiomyopathy, Dilated, 1e

About this section

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

67 (show all 28)
id Symbol AA change Variation ID SNP ID
1MYH7p.Ala223ThrVAR_017746
2MYH7p.Ser532ProVAR_017747
3MYH7p.Ser642LeuVAR_017748
4MYH7p.Phe764LeuVAR_017751
5MYH7p.Ile201ThrVAR_042768
6MYH7p.Thr412AsnVAR_042781
7MYH7p.Ala550ValVAR_042794
8MYH7p.Thr1019AsnVAR_042819
9MYH7p.Arg1193SerVAR_042822
10MYH7p.Glu1426LysVAR_042826
11MYH7p.Lys1459AsnVAR_042828
12MYH7p.Arg1634CysVAR_042833
13MYH7p.Val1044AlaVAR_067260
14MYH7p.Ala1263GluVAR_067262
15MYH7p.Leu1297ValVAR_067263
16MYH7p.Arg243HisVAR_073876
17MYH7p.Tyr283AspVAR_073877
18MYH7p.Tyr350AsnVAR_073878
19MYH7p.Leu390ProVAR_073879
20MYH7p.Arg1359CysVAR_073883
21MYH7p.Glu1573LysVAR_073884
22MYH7p.Ser1776ThrVAR_073885
23MYH7p.Asn1918LysVAR_073888
24SCN5Ap.Asp1275AsnVAR_026373
25TPM1p.Glu40LysVAR_043986
26TPM1p.Glu54LysVAR_043987
27TPM1p.Glu192LysVAR_070121
28TPM1p.Lys248GluVAR_070122

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

5 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)single nucleotide variantPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
2TPM1NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs104894501GRCh37Chr 15, 63336229: 63336229
3MYH7NM_000257.3(MYH7): c.1573G> A (p.Glu525Lys)single nucleotide variantLikely pathogenic, Pathogenicrs606231324GRCh37Chr 14, 23897714: 23897714
4MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
5MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
6MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
7MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
8MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
9MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
10MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
11NM_000257.3(MYH7): c.4498C> T (p.Arg1500Trp)single nucleotide variantLikely pathogenicrs45544633GRCh37Chr 14, 23886383: 23886383
12MYH7NM_000257.3(MYH7): c.3748C> T (p.Arg1250Trp)single nucleotide variantLikely pathogenicrs727503249GRCh37Chr 14, 23888797: 23888797
13MYH7NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys)single nucleotide variantPathogenicrs727503253GRCh37Chr 14, 23893328: 23893328
14TPM1NM_000366.5(TPM1): c.416A> T (p.Glu139Val)single nucleotide variantLikely pathogenicrs727504389GRCh37Chr 15, 63351803: 63351803
15MYH7NM_000257.3(MYH7): c.1570A> G (p.Ile524Val)single nucleotide variantLikely pathogenicrs727504401GRCh37Chr 14, 23897717: 23897717
16MYH7NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)single nucleotide variantLikely pathogenicGRCh37Chr 14, 23897743: 23897743
17TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
18TPM1NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs199476317GRCh37Chr 15, 63354462: 63354462
19TPM1NM_001018005.1(TPM1): c.275T> C (p.Ile92Thr)single nucleotide variantLikely pathogenicrs199476310GRCh37Chr 15, 63349218: 63349218
20TPM1NM_001018005.1(TPM1): c.479G> A (p.Arg160His)single nucleotide variantLikely pathogenicrs199476311GRCh37Chr 15, 63351866: 63351866
21SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
22MYH7NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln)single nucleotide variantPathogenicrs397516089GRCh37Chr 14, 23899016: 23899016
23MYH7NM_000257.3(MYH7): c.1700G> A (p.Arg567His)single nucleotide variantLikely pathogenicrs377491278GRCh37Chr 14, 23896982: 23896982
24MYH7NM_000257.3(MYH7): c.1798C> T (p.Pro600Ser)single nucleotide variantLikely pathogenicrs397516123GRCh37Chr 14, 23896884: 23896884
25MYH7NM_000257.3(MYH7): c.2348G> C (p.Arg783Pro)single nucleotide variantLikely pathogenicrs397516142GRCh37Chr 14, 23894566: 23894566
26MYH7NM_000257.3(MYH7): c.3578G> A (p.Arg1193His)single nucleotide variantLikely pathogenic, Pathogenicrs397516187GRCh37Chr 14, 23889202: 23889202
27MYH7NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del)deletionLikely pathogenicrs397516190GRCh37Chr 14, 23889120: 23889122
28MYH7NM_000257.3(MYH7): c.5717C> G (p.Ala1906Gly)single nucleotide variantLikely pathogenicrs397516252GRCh37Chr 14, 23883041: 23883041
29MYH7NM_000257.3(MYH7): c.5726G> C (p.Arg1909Pro)single nucleotide variantLikely pathogenicrs397516253GRCh37Chr 14, 23883032: 23883032
30MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
31MYH7NM_000257.3(MYH7): c.602T> C (p.Ile201Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397516258GRCh37Chr 14, 23901007: 23901007
32TPM1NM_001018005.1(TPM1): c.163G> A (p.Asp55Asn)single nucleotide variantLikely pathogenicrs397516363GRCh37Chr 15, 63336274: 63336274
33TPM1NM_001018005.1(TPM1): c.23T> G (p.Met8Arg)single nucleotide variantLikely pathogenicrs397516364GRCh37Chr 15, 63335051: 63335051
34TPM1NM_001018005.1(TPM1): c.337C> G (p.Leu113Val)single nucleotide variantLikely pathogenicrs397516369GRCh37Chr 15, 63349280: 63349280
35TPM1NM_001018005.1(TPM1): c.341A> G (p.Glu114Gly)single nucleotide variantLikely pathogenicrs397516370GRCh37Chr 15, 63349284: 63349284
36TPM1NM_001018005.1(TPM1): c.423G> C (p.Met141Ile)single nucleotide variantLikely pathogenicrs397516371GRCh37Chr 15, 63351810: 63351810
37TPM1NM_001018005.1(TPM1): c.475G> A (p.Asp159Asn)single nucleotide variantLikely pathogenicrs397516373GRCh37Chr 15, 63351862: 63351862
38TPM1NM_001018005.1(TPM1): c.632C> G (p.Ala211Gly)single nucleotide variantLikely pathogenicrs397516487GRCh37Chr 15, 63353980: 63353980
39SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
40SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
41SCN5ANM_000335.4(SCN5A): c.2549_2550dupTG (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627419: 38627420
42SCN5ANM_000335.4(SCN5A): c.4780G> C (p.Asp1594His)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800

Expression for genes affiliated with Cardiomyopathy, Dilated, 1e

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1e

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MYH7, TPM1
2
Show member pathways
8.5MYH7, SCN5A, TPM1

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1e

About this section

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

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:00017259.3MYH7, TPM1
2Z discGO:00300189.3MYH7, SCN5A
3sarcomereGO:00300179.1MYH7, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of heart rateGO:00020279.2MYH7, SCN5A
2ventricular cardiac muscle tissue morphogenesisGO:00550109.2MYH7, TPM1
3muscle contractionGO:00069369.1MYH7, TPM1
4muscle filament slidingGO:00300498.8MYH7, TPM1
5cardiac muscle contractionGO:00600488.5MYH7, SCN5A, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:00055169.5MYH7, SCN5A
2actin bindingGO:00037799.1MYH7, TPM1

Sources for Cardiomyopathy, Dilated, 1e

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet