MCID: CRD099
MIFTS: 42

Cardiomyopathy, Dilated, 1e malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 52 12 68
Left Ventricular Noncompaction 5 52 48 24 27 68
Left Ventricular Noncompaction 9 52 24 70 27 68
Cardiomyopathy, Dilated, 1s 52 48 12 68
Cardiomyopathy, Dilated, 1y 52 12 68
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 11 70
Dilated Cardiomyopathy with Conduction Defect 2 11 70
Cardiomyopathy, Dilated 1y 70 27
Cmd1e 11 70
Cdcd2 11 70
Cmd1y 11 70
 
Cmd1s 11 70
Lvnc9 24 70
Cardiomyopathy Dilated with Conduction Defect Type 2 48
Left Ventricular Non-Compaction 9 70
Cardiomyopathy, Dilated 1s 70
Cardiomyopathy, Dilated 1e 70
Dilated Cardiomyopathy-1s 48
Dilated Cardiomyopathy 1e 11
Dilated Cardiomyopathy 1y 11
Dilated Cardiomyopathy 1s 11
Lvnc5 24

Characteristics:

HPO:

64
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

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UniProtKB/Swiss-Prot:70 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 scn5a-related dilated cardiomyopathy and myh7-related 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), and among its related pathways are Cardiac muscle contraction and cGMP-PKG signaling pathway. Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the SCN5A gene on chromosome 3p22.2.

Descriptions from OMIM:52 601154,613426,611878

Related Diseases for Cardiomyopathy, Dilated, 1e

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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 Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Prdm16-Related Dilated Cardiomyopathy Sdha-Related Dilated 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 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 19)
idRelated DiseaseScoreTop Affiliating Genes
1scn5a-related dilated cardiomyopathy30.4MYH7, SCN5A, TPM1
2myh7-related dilated cardiomyopathy11.1
3tpm1-related dilated cardiomyopathy11.1
4scn5a-associated dilated cardiomyopathy11.1
5campomelic dysplasia11.0
6cardiomyopathy, dilated, 1a10.9
7left ventricular noncompaction 1, with or without congenital heart defects10.9
8symmastia9.6MYH7, SCN5A
9atrial standstill, digenic9.6MYH7, SCN5A
10autoimmune disease of skin and connective tissue9.5MYH7, TPM1
11craniosynostosis9.4MYH7, SCN5A
12ulceroglandular tularemia9.3MYH7, TPM1
13myl2-related familial hypertrophic cardiomyopathy9.3MYH7, SCN5A, TPM1
14scn5a-related romano ward syndrome9.2MYH7, SCN5A, TPM1
15tpm2-related arthrogryposis multiplex congenita, distal, type 2b9.2MYH7, SCN5A, TPM1
16longitudinal vaginal septum9.2MYH7, SCN5A, TPM1
17chicken egg allergy9.2MYH7, SCN5A, TPM1
18ectodermal dysplasia9.2MYH7, SCN5A, TPM1
19cardiovascular disease risk factor )9.1MYH7, SCN5A, TPM1

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



Diseases related to cardiomyopathy, dilated, 1e

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1e

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Symptoms by clinical synopsis from OMIM:

601154

Clinical features from OMIM:

601154,613426,611878

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve64 rare (5%) HP:0001647
2 coarctation of aorta64 rare (5%) HP:0001680
3 ventricular arrhythmia64 rare (5%) HP:0004308
4 pulmonary artery hypoplasia64 rare (5%) HP:0004971
5 tricuspid regurgitation64 rare (5%) HP:0005180
6 syncope64 HP:0001279
7 stroke64 HP:0001297
8 dilated cardiomyopathy64 HP:0001644
9 atrioventricular block64 HP:0001678
10 palpitations64 HP:0001962
11 atrial flutter64 HP:0004749
12 atrial fibrillation64 HP:0005110
13 reduced systolic function64 HP:0006673
14 right bundle branch block64 HP:0011712
15 left bundle branch block64 HP:0011713
16 congestive heart failure64 HP:0001635
17 ventricular tachycardia64 HP:0004756

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1e

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Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1e

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Genetic tests related to Cardiomyopathy, Dilated, 1e:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1e27
2 Dilated Cardiomyopathy 1s27
3 Dilated Cardiomyopathy 1y27
4 Left Ventricular Noncompaction 527 24 MYH7
5 Left Ventricular Noncompaction 927 24 TPM1

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

36
Heart

Publications for Cardiomyopathy, Dilated, 1e

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Variations for Cardiomyopathy, Dilated, 1e

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

70 (show all 28)
id Symbol AA change Variation ID SNP ID
1MYH7p.Ala223ThrVAR_017746rs121913645
2MYH7p.Ser532ProVAR_017747rs121913642
3MYH7p.Ser642LeuVAR_017748rs121913646
4MYH7p.Phe764LeuVAR_017751rs121913643
5MYH7p.Ile201ThrVAR_042768rs397516258
6MYH7p.Thr412AsnVAR_042781
7MYH7p.Ala550ValVAR_042794
8MYH7p.Thr1019AsnVAR_042819rs755392435
9MYH7p.Arg1193SerVAR_042822
10MYH7p.Glu1426LysVAR_042826rs397516208
11MYH7p.Lys1459AsnVAR_042828rs201307101
12MYH7p.Arg1634CysVAR_042833rs397516232
13MYH7p.Val1044AlaVAR_067260
14MYH7p.Ala1263GluVAR_067262rs758889483
15MYH7p.Leu1297ValVAR_067263
16MYH7p.Arg243HisVAR_073876rs267606910
17MYH7p.Tyr283AspVAR_073877rs397515482
18MYH7p.Tyr350AsnVAR_073878
19MYH7p.Leu390ProVAR_073879
20MYH7p.Arg1359CysVAR_073883rs45451303
21MYH7p.Glu1573LysVAR_073884rs750987717
22MYH7p.Ser1776ThrVAR_073885
23MYH7p.Asn1918LysVAR_073888
24SCN5Ap.Asp1275AsnVAR_026373rs137854618
25TPM1p.Glu40LysVAR_043986rs104894501
26TPM1p.Glu54LysVAR_043987rs104894505
27TPM1p.Glu192LysVAR_070121rs199476315
28TPM1p.Lys248GluVAR_070122rs199476319

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

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)SNVPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
2TPM1NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys)SNVPathogenicrs104894501GRCh37Chr 15, 63336229: 63336229
3MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)SNVPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
4MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)SNVPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
5MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)SNVPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
6MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)SNVPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
7MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)SNVLikely pathogenic, Pathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
8MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)SNVPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
9MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
10MYH7NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys)SNVPathogenicrs727503253GRCh37Chr 14, 23893328: 23893328
11SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
12TPM1NM_001018004.1(TPM1): c.519G> C (p.Glu173Asp)SNVLikely pathogenicrs886037905GRCh38Chr 15, 63060895: 63060895
13TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)SNVLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
14TPM1NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn)SNVPathogenicrs199476317GRCh37Chr 15, 63354462: 63354462
15SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)SNVPathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
16MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)SNVPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
17SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)SNVPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
18SCN5ANM_000335.4(SCN5A): c.4780G> C (p.Asp1594His)SNVPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800

Expression for genes affiliated with Cardiomyopathy, Dilated, 1e

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1e

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

idSuper pathwaysScoreTop Affiliating Genes
19.3MYH7, TPM1
2
Show member pathways
8.5MYH7, SCN5A, TPM1

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

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

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:00300169.9MYH7, TPM1
2sarcomereGO:00300179.9MYH7, TPM1
3stress fiberGO:00017259.9MYH7, TPM1
4Z discGO:00300189.0MYH7, SCN5A

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.9MYH7, TPM1
2muscle filament slidingGO:00300499.8MYH7, TPM1
3regulation of heart rateGO:00020279.4MYH7, SCN5A
4ventricular cardiac muscle tissue morphogenesisGO:00550109.3MYH7, TPM1
5cardiac muscle contractionGO:00600489.1MYH7, SCN5A, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.9MYH7, TPM1
2calmodulin bindingGO:00055169.0MYH7, SCN5A

Sources for Cardiomyopathy, Dilated, 1e

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet