MCID: CRD099
MIFTS: 41

Cardiomyopathy, Dilated, 1e malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories

Summaries for Cardiomyopathy, Dilated, 1e

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MalaCards based summary: Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 5, is related to spinocerebellar ataxia and long qt syndrome, 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. The compounds asparagine and valine have been mentioned in the context of this disorder. Affiliated tissues include heart.

Descriptions from OMIM:45 601154,613426,611878

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

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Cardiomyopathy, Dilated, 1e, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1e 45 10
Left Ventricular Noncompaction 5 45 20 22 60
Cardiomyopathy, Dilated, 1y 45 10 22
 
Cardiomyopathy, Dilated, 1s 45 10
Cardiomyopathy Dilated with Conduction Defect Type 2 41
Left Ventricular Noncompaction 9 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


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Related Diseases for Cardiomyopathy, Dilated, 1e

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Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1aa 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, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated 1c Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia10.0SCN5A, MYH7
2long qt syndrome10.0SCN5A, MYH7
3noonan syndrome 110.0MYH7, SCN5A
4ischemia10.0MYH7, SCN5A
5hypertrophic cardiomyopathy9.9MYH7, TPM1
6congenital heart disease9.8MYH7, SCN5A
7myopathy9.8TPM1, MYH7
8sudden cardiac death multi-gene panels9.7MYH7, TPM1, SCN5A
9dilated cardiomyopathy9.7MYH7, TPM1, SCN5A

Graphical network of 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 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

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1e

Search 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 520 22 MYH7
2 Dilated Cardiomyopathy 1e22
3 Dilated Cardiomyopathy 1s22
4 Dilated Cardiomyopathy 1y22

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

31
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:

62 (show all 19)
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.Arg1634CysVAR_042833
12MYH7p.Val1044AlaVAR_067260
13MYH7p.Ala1263GluVAR_067262
14MYH7p.Leu1297ValVAR_067263
15SCN5Ap.Asp1275AsnVAR_026373
16TPM1p.Glu40LysVAR_043986
17TPM1p.Glu54LysVAR_043987
18TPM1p.Glu192LysVAR_070121
19TPM1p.Lys248GluVAR_070122

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

6 (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 variantPathogenicrs121913654GRCh37Chr 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)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
10SCN5ANM_000335.4(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
11SCN5ANM_000335.4(SCN5A): c.5504T> C (p.Ile1835Thr)single nucleotide variantPathogenicrs45563942GRCh37Chr 3, 38592356: 38592356
12MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
13SCN5ANM_000335.4(SCN5A): c.659C> T (p.Thr220Ile)single nucleotide variantPathogenicrs45620037GRCh37Chr 3, 38655278: 38655278
14SCN5ANM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917
15SCN5ANM_000335.4(SCN5A): c.2549_2550dupTG (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627419: 38627420
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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.0MYH7, TPM1
29.0MYH7, TPM1
38.5MYH7, TPM1, SCN5A

Compounds for genes affiliated with Cardiomyopathy, Dilated, 1e

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Sources:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1asparagine439.5MYH7, SCN5A
2valine439.4MYH7, SCN5A
3glutamine439.3SCN5A, MYH7
4arginine439.3MYH7, SCN5A
5sodium43 2410.2MYH7, SCN5A
6oligonucleotide439.0MYH7, SCN5A
7calcium43 49 24 1211.6MYH7, TPM1, SCN5A

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
1stress fiberGO:00017259.0MYH7, TPM1
2sarcomereGO:00300178.7MYH7, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of heart rateGO:00020279.4MYH7, SCN5A
2ventricular cardiac muscle tissue morphogenesisGO:00550109.0MYH7, TPM1
3muscle contractionGO:00069369.0MYH7, TPM1
4cardiac muscle contractionGO:00600489.0SCN5A, TPM1
5muscle filament slidingGO:00300498.7TPM1, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.0MYH7, TPM1
2calmodulin bindingGO:00055169.0MYH7, SCN5A

Products for genes affiliated with Cardiomyopathy, Dilated, 1e

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  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Dilated, 1e

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet