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 50 12
Left Ventricular Noncompaction 9 50 23 68 25 66
Left Ventricular Noncompaction 5 50 23 25 66
Cardiomyopathy, Dilated, 1y 50 12
Cardiomyopathy, Dilated, 1s 50 12
Cardiomyopathy, Dilated 1y 68 25
Lvnc9 23 68
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 68
Cardiomyopathy Dilated with Conduction Defect Type 2 46
 
Dilated Cardiomyopathy with Conduction Defect 2 68
Left Ventricular Non-Compaction 9 68
Cardiomyopathy, Dilated 1s 68
Cardiomyopathy, Dilated 1e 68
Cmd1e 68
Lvnc5 23
Cdcd2 68
Cmd1y 68
Cmd1s 68

Characteristics:

HPO:

62
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:68 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 9, 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.

Descriptions from OMIM:50 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
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
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 32)
idRelated DiseaseScoreTop Affiliating Genes
1scn5a-related dilated cardiomyopathy31.2MYH7, SCN5A, TPM1
2myh7-related dilated cardiomyopathy11.2
3scn5a-associated dilated cardiomyopathy11.2
4campomelic dysplasia11.1
5tpm1-related dilated cardiomyopathy11.0
6ventricular fibrillation, familial, 110.2HBN1, SCN5A
7sick sinus syndrome 110.2HBN1, SCN5A
8atrial fibrillation, familial, 1010.2HBN1, SCN5A
9long qt syndrome-310.1HBN1, SCN5A
10heart block, progressive, type ia10.1HBN1, SCN5A
11brugada syndrome 110.1HBN1, SCN5A
12symmastia10.1MYH7, SCN5A
13atrial standstill, digenic10.0MYH7, SCN5A
14cardiomyopathy, dilated, 1a10.0
15left ventricular noncompaction 1, with or without congenital heart defects10.0
16myopathy, myosin storage, autosomal recessive9.8MYH7, SPPM
17dyskeratosis congenita, autosomal dominant 39.8MYH7, SPPM
18liang distal myopathy9.8MYH7, SPPM
19glomerulosclerosis, focal segmental, 59.8MYH7, SPPM
20craniosynostosis9.8MYH7, SCN5A
21autoimmune disease of skin and connective tissue9.8MYH7, TPM1
22ulceroglandular tularemia9.7MYH7, TPM1
23myl2-related familial hypertrophic cardiomyopathy9.6MYH7, SCN5A, TPM1
24scn5a-related romano ward syndrome9.6MYH7, SCN5A, TPM1
25tpm2-related arthrogryposis multiplex congenita, distal, type 2b9.6MYH7, SCN5A, TPM1
26longitudinal vaginal septum9.6MYH7, SCN5A, TPM1
27chicken egg allergy9.6MYH7, SCN5A, TPM1
28sudden infant death syndrome9.6HBN1, SCN5A
29cardiomyopathy, familial hypertrophic9.5MYH7, SPPM
30ectodermal dysplasia9.4MYH7, SCN5A, TPM1
31cardiovascular disease risk factor )9.4MYH7, SCN5A, TPM1
32cardiomyopathy, dilated, 1e8.3HBN1, MYH7, SCN5A, SPPM, TPM1

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



Diseases related to cardiomyopathy, dilated, 1e

Symptoms for Cardiomyopathy, Dilated, 1e

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Symptoms by clinical synopsis from OMIM:

601154

Clinical features from OMIM:

601154,613426,611878

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

(show all 17)
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 syncope HP:0001279
7 stroke HP:0001297
8 dilated cardiomyopathy HP:0001644
9 atrioventricular block HP:0001678
10 palpitations HP:0001962
11 atrial flutter HP:0004749
12 atrial fibrillation HP:0005110
13 reduced systolic function HP:0006673
14 right bundle branch block HP:0011712
15 left bundle branch block HP:0011713
16 congestive heart failure HP:0001635
17 ventricular tachycardia 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 1e25
2 Dilated Cardiomyopathy 1y25
3 Left Ventricular Noncompaction 525 23 MYH7
4 Left Ventricular Noncompaction 925 23 TPM1

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

34
Heart

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

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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:

68 (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_043986rs104894501
26TPM1p.Glu54LysVAR_043987rs104894505
27TPM1p.Glu192LysVAR_070121rs199476315
28TPM1p.Lys248GluVAR_070122rs199476319

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

5 (show all 16)
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.1594T> C (p.Ser532Pro)single nucleotide variantPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
4MYH7NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu)single nucleotide variantPathogenicrs121913643GRCh37Chr 14, 23894622: 23894622
5MYH7NM_000257.3(MYH7): c.667G> A (p.Ala223Thr)single nucleotide variantPathogenicrs121913645GRCh37Chr 14, 23900859: 23900859
6MYH7NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu)single nucleotide variantPathogenicrs121913646GRCh37Chr 14, 23896480: 23896480
7MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121913654GRCh37Chr 14, 23884385: 23884385
8MYH7NM_000257.3(MYH7): c.728G> A (p.Arg243His)single nucleotide variantPathogenicrs267606910GRCh37Chr 14, 23900798: 23900798
9MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
10SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
11TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
12SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
13MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
14SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
15SCN5ANM_001160160.1(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
16SCN5ANM_000335.4(SCN5A): c.4780G> C (p.Asp1594His)single nucleotide variantPathogenicrs137854607GRCh37Chr 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
19.4MYH7, TPM1
2
Show member pathways
8.9MYH7, 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
1sarcomereGO:00300179.7MYH7, TPM1
2stress fiberGO:00017259.5MYH7, TPM1
3myofibrilGO:00300169.4MYH7, TPM1
4Z discGO:00300189.2MYH7, SCN5A

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

idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle tissue morphogenesisGO:00550109.7MYH7, TPM1
2regulation of heart rateGO:00020279.5MYH7, SCN5A
3muscle filament slidingGO:00300499.5MYH7, TPM1
4muscle contractionGO:00069369.1MYH7, TPM1
5cardiac muscle contractionGO:00600488.9MYH7, SCN5A, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:00055169.5MYH7, SCN5A

Sources for Cardiomyopathy, Dilated, 1e

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet