MCID: CRD099
MIFTS: 39

Cardiomyopathy, Dilated, 1e malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 49 11 65
Left Ventricular Noncompaction 5 49 45 22 24 65
Left Ventricular Noncompaction 9 49 22 67 24 65
Cardiomyopathy, Dilated, 1s 49 11 45 65
Cardiomyopathy, Dilated, 1y 49 11 65
Cardiomyopathy, Dilated 1y 67 24
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
Dilated Cardiomyopathy-1s 45
Cdcd2 67
Cmd1e 67
Lvnc5 22
Cmd1y 67
Cmd1s 67

Characteristics:

HPO:

61
cardiomyopathy, dilated, 1e:
Inheritance: autosomal dominant inheritance
cardiomyopathy, dilated, 1y:
Inheritance: autosomal dominant inheritance
cardiomyopathy, dilated, 1s:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

UMLS65 C3150690, C3808145, C1832680 C1834481, C2678476, more

Summaries for Cardiomyopathy, Dilated, 1e

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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 campomelic dysplasia, 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 Hypertrophic cardiomyopathy (HCM) and Cardiac muscle contraction. Affiliated tissues include heart.

Descriptions from OMIM:49 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 Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Cryab-Related Dilated Cardiomyopathy
Mypn-Related 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 28)
idRelated DiseaseScoreTop Affiliating Genes
1myh7-related dilated cardiomyopathy11.6
2campomelic dysplasia11.5
3tpm1-related dilated cardiomyopathy11.4
4scn5a-associated dilated cardiomyopathy11.3
5scn5a-related dilated cardiomyopathy11.3
6cardiomyopathy, dilated, 1a10.4
7left ventricular noncompaction 1, with or without congenital heart defects10.4
8ventricular fibrillation, familial, 110.1KRT81, SCN5A
9sick sinus syndrome 110.1KRT81, SCN5A
10atrial fibrillation, familial, 1010.0KRT81, SCN5A
11long qt syndrome-310.0KRT81, SCN5A
12heart block, progressive, type ia10.0KRT81, SCN5A
13brugada syndrome 110.0KRT81, SCN5A
14spinal canal and spinal cord meningioma9.8MYH7, SCN5A
15cylindrical spirals myopathy9.7MYH7, TPM1
16specific developmental disorder9.7MYH7, TPM1
17sudden infant death syndrome9.7KRT81, SCN5A
18extrinsic cardiomyopathy9.6MYH7, TPM1
19conjunctival concretion9.6MYH7, TPM1
20myh7-related familial hypertrophic cardiomyopathy9.5MYH7, SCN5A, TPM1
21scn5a-related brugada syndrome9.5MYH7, SCN5A, TPM1
22scn5a-related familial atrial fibrillation9.5MYH7, SCN5A, TPM1
23transverse vaginal septum9.5MYH7, SCN5A, TPM1
24sulfate transporter-related osteochondrodysplasia9.5MYH7, SCN5A, TPM1
25spoan syndrome9.5MYH7, SCN5A, TPM1
26drug-induced hepatitis9.4MYH7, SCN5A, TPM1
27cardiomyopathy with or without skeletal myopathy9.3MYH7, SCN5A, TPM1
28cardiomyopathy, dilated, 1e9.2KRT81, 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

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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 left bundle branch block HP:0011713
7 right bundle branch block HP:0011712
8 reduced systolic function HP:0006673
9 atrial fibrillation HP:0005110
10 atrial flutter HP:0004749
11 palpitations HP:0001962
12 atrioventricular block HP:0001678
13 dilated cardiomyopathy HP:0001644
14 stroke HP:0001297
15 syncope HP:0001279
16 congestive heart failure HP:0001635
17 ventricular tachycardia HP:0004756

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 Left Ventricular Noncompaction 522 MYH7
2 Left Ventricular Noncompaction 922 TPM1

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

33
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:

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 37)
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.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
9NM_000257.3(MYH7): c.4498C> T (p.Arg1500Trp)single nucleotide variantLikely pathogenicrs45544633GRCh37Chr 14, 23886383: 23886383
10MYH7NM_000257.3(MYH7): c.3748C> T (p.Arg1250Trp)single nucleotide variantLikely pathogenicrs727503249GRCh37Chr 14, 23888797: 23888797
11MYH7NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys)single nucleotide variantPathogenicrs727503253GRCh37Chr 14, 23893328: 23893328
12TPM1NM_000366.5(TPM1): c.416A> T (p.Glu139Val)single nucleotide variantLikely pathogenicrs727504389GRCh37Chr 15, 63351803: 63351803
13MYH7NM_000257.3(MYH7): c.1570A> G (p.Ile524Val)single nucleotide variantLikely pathogenicrs727504401GRCh38Chr 14, 23428508: 23428508
14SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
15TPM1NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys)single nucleotide variantLikely pathogenic, Pathogenicrs199476315GRCh37Chr 15, 63353922: 63353922
16TPM1NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs199476317GRCh37Chr 15, 63354462: 63354462
17SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
18MYH7NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln)single nucleotide variantPathogenicrs397516089GRCh37Chr 14, 23899016: 23899016
19MYH7NM_000257.3(MYH7): c.1700G> A (p.Arg567His)single nucleotide variantLikely pathogenicrs377491278GRCh37Chr 14, 23896982: 23896982
20MYH7NM_000257.3(MYH7): c.1798C> T (p.Pro600Ser)single nucleotide variantLikely pathogenicrs397516123GRCh37Chr 14, 23896884: 23896884
21MYH7NM_000257.3(MYH7): c.2348G> C (p.Arg783Pro)single nucleotide variantLikely pathogenicrs397516142GRCh37Chr 14, 23894566: 23894566
22MYH7NM_000257.3(MYH7): c.3578G> A (p.Arg1193His)single nucleotide variantLikely pathogenic, Pathogenicrs397516187GRCh37Chr 14, 23889202: 23889202
23MYH7NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del)deletionLikely pathogenicrs397516190GRCh37Chr 14, 23889120: 23889122
24MYH7NM_000257.3(MYH7): c.5717C> G (p.Ala1906Gly)single nucleotide variantLikely pathogenicrs397516252GRCh37Chr 14, 23883041: 23883041
25MYH7NM_000257.3(MYH7): c.5726G> C (p.Arg1909Pro)single nucleotide variantLikely pathogenicrs397516253GRCh37Chr 14, 23883032: 23883032
26MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
27MYH7NM_000257.3(MYH7): c.602T> C (p.Ile201Thr)single nucleotide variantLikely pathogenic, Pathogenicrs397516258GRCh37Chr 14, 23901007: 23901007
28TPM1NM_001018005.1(TPM1): c.163G> A (p.Asp55Asn)single nucleotide variantLikely pathogenicrs397516363GRCh37Chr 15, 63336274: 63336274
29TPM1NM_001018005.1(TPM1): c.23T> G (p.Met8Arg)single nucleotide variantLikely pathogenicrs397516364GRCh37Chr 15, 63335051: 63335051
30TPM1NM_001018005.1(TPM1): c.337C> G (p.Leu113Val)single nucleotide variantLikely pathogenicrs397516369GRCh37Chr 15, 63349280: 63349280
31TPM1NM_001018005.1(TPM1): c.341A> G (p.Glu114Gly)single nucleotide variantLikely pathogenicrs397516370GRCh37Chr 15, 63349284: 63349284
32TPM1NM_001018005.1(TPM1): c.423G> C (p.Met141Ile)single nucleotide variantLikely pathogenicrs397516371GRCh37Chr 15, 63351810: 63351810
33TPM1NM_001018005.1(TPM1): c.475G> A (p.Asp159Asn)single nucleotide variantLikely pathogenicrs397516373GRCh37Chr 15, 63351862: 63351862
34TPM1NM_001018005.1(TPM1): c.632C> G (p.Ala211Gly)single nucleotide variantLikely pathogenicrs397516487GRCh37Chr 15, 63353980: 63353980
35SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
36SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
37SCN5ANM_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
1
Show member pathways
9.1MYH7, TPM1
29.1MYH7, TPM1
3
Show member pathways
8.5MYH7, SCN5A, TPM1

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

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Sources for Cardiomyopathy, Dilated, 1e

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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