MCID: MYH009
MIFTS: 21

Myh7-Related Dilated Cardiomyopathy malady

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

Aliases & Classifications for Myh7-Related Dilated Cardiomyopathy

Aliases & Descriptions for Myh7-Related Dilated Cardiomyopathy:

Name: Myh7-Related Dilated Cardiomyopathy 24
Cardiomyopathy, Dilated, 1s 69
Dilated Cardiomyopathy 1s 24
Cmd1s 24

Classifications:



Summaries for Myh7-Related Dilated Cardiomyopathy

MalaCards based summary : Myh7-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 1s, is related to cardiomyopathy, dilated, 1e and campomelic dysplasia. An important gene associated with Myh7-Related Dilated Cardiomyopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Vascular smooth muscle contraction and Dilated cardiomyopathy.

Related Diseases for Myh7-Related Dilated Cardiomyopathy

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 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b 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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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 Myh7-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 10.9
2 campomelic dysplasia 10.9
3 cardiomyopathy, dilated, 1a 10.9
4 pervasive developmental disorder 9.9 MYH7 TPM1
5 pfeiffer rockelein syndrome 9.9 MYH7 SCN5A
6 mosaic trisomy 1 9.8 MYH7 SCN5A
7 retinitis pigmentosa 18 9.8 MYH7 SCN5A
8 long qt syndrome 9 9.8 MYH7 TPM1
9 xanthogranulomatous pyelonephritis 9.8 MYH7 SCN5A
10 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 9.7 MYH7 SCN5A TPM1
11 ndp-related retinopathy of prematurity 9.7 MYH7 SCN5A TPM1
12 selenon-related myopathy 9.7 MYH7 SCN5A TPM1
13 sema4a-related retinitis pigmentosa 9.7 MYH7 SCN5A TPM1
14 sudden infant death syndrome 9.7 MYH7 SCN5A TPM1
15 tardbp-related frontotemporal dementia 9.7 MYH7 SCN5A TPM1
16 primary cutaneous gamma/delta-positive t-cell lymphoma 9.7 MYH7 SCN5A TPM1
17 pollen allergy 9.7 MYH7 SCN5A TPM1
18 cdkl5-related angelman-like syndrome 9.7 MYH7 SCN5A TPM1
19 emery-dreifuss muscular dystrophy, dominant type 9.6 MYH7 SCN5A TPM1

Graphical network of the top 20 diseases related to Myh7-Related Dilated Cardiomyopathy:



Diseases related to Myh7-Related Dilated Cardiomyopathy

Symptoms & Phenotypes for Myh7-Related Dilated Cardiomyopathy

Drugs & Therapeutics for Myh7-Related Dilated Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Myh7-Related Dilated Cardiomyopathy

Genetic Tests for Myh7-Related Dilated Cardiomyopathy

Genetic tests related to Myh7-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Dilated Cardiomyopathy 24 MYH7

Anatomical Context for Myh7-Related Dilated Cardiomyopathy

Publications for Myh7-Related Dilated Cardiomyopathy

Variations for Myh7-Related Dilated Cardiomyopathy

ClinVar genetic disease variations for Myh7-Related Dilated Cardiomyopathy:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
2 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
3 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
4 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
5 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
6 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
7 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
8 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
9 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
10 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
11 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
12 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
13 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
14 MYH7 NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys) single nucleotide variant Pathogenic rs727503253 GRCh37 Chromosome 14, 23893328: 23893328
15 SCN5A NM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs) duplication Pathogenic rs397514450 GRCh37 Chromosome 3, 38627418: 38627419

Expression for Myh7-Related Dilated Cardiomyopathy

Search GEO for disease gene expression data for Myh7-Related Dilated Cardiomyopathy.

Pathways for Myh7-Related Dilated Cardiomyopathy

Pathways related to Myh7-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 MYH7 SCN5A TPM1
2
Show member pathways
11.39 MYH7 TPM1
3 10.85 MYH7 TPM1

GO Terms for Myh7-Related Dilated Cardiomyopathy

Cellular components related to Myh7-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 MYH7 SCN5A
2 sarcomere GO:0030017 9.16 MYH7 TPM1
3 stress fiber GO:0001725 8.96 MYH7 TPM1
4 myofibril GO:0030016 8.62 MYH7 TPM1

Biological processes related to Myh7-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.32 MYH7 TPM1
2 muscle filament sliding GO:0030049 9.26 MYH7 TPM1
3 regulation of heart rate GO:0002027 9.16 MYH7 SCN5A
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 8.96 MYH7 TPM1
5 cardiac muscle contraction GO:0060048 8.8 MYH7 SCN5A TPM1

Molecular functions related to Myh7-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.96 MYH7 TPM1
2 calmodulin binding GO:0005516 8.62 MYH7 SCN5A

Sources for Myh7-Related Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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