MCID: MYH009
MIFTS: 25

Myh7-Related Dilated Cardiomyopathy

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

Aliases & Classifications for Myh7-Related Dilated Cardiomyopathy

MalaCards integrated aliases 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 peroxisomal biogenesis disorders. 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 Cardiac conduction. Related phenotypes are cardiovascular system and muscle

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, 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
Dilated Cardiomyopathy 1t 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 24)
id Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1e 11.2
2 peroxisomal biogenesis disorders 10.2 MYH7 SCN5A
3 atrial standstill, digenic 10.1 LMNA SCN5A
4 squamous cell papilloma 10.0 LMNA SCN5A
5 microcephaly and chorioretinopathy 1 9.9 LMNA MYH7
6 hyperphosphatemia 9.9 SCN5A TPM1
7 second-degree atrioventricular block 9.9 LMNA SCN5A
8 autoimmune thyroid disease 2 9.8 DES MYH7
9 syne1-related emery-dreifuss muscular dystrophy 9.7 MYH7 SCN5A TPM1
10 oesophagostomiasis 9.7 DES MYH7
11 pseudoachondroplastic dysplasia 2 9.7 DES LMNA
12 ventricular tachycardia, catecholaminergic polymorphic, 1 9.7 LMNA MYH7 SCN5A
13 xanthogranulomatous pyelonephritis 9.3 LMNA MYH7 SCN5A
14 autoimmune disease of skin and connective tissue 9.2 LMNA MYH7 SCN5A TPM1
15 usher syndrome 9.2 DES LMNA SCN5A
16 chicken egg allergy 9.2 LMNA MYH7 SCN5A TPM1
17 clear cell sarcoma 8.8 DES LMNA MYH7
18 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 8.3 DES MYH7 RBM20 SCN5A TPM1
19 sudden infant death syndrome 7.8 DES LMNA MYH7 RBM20 SCN5A TPM1
20 mylk-related thoracic aortic aneurysms and aortic dissections 7.8 DES LMNA MYH7 RBM20 SCN5A TPM1
21 sdccag8-related bardet-biedl syndrome 7.8 DES LMNA MYH7 RBM20 SCN5A TPM1
22 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 7.8 DES LMNA MYH7 RBM20 SCN5A TPM1
23 ectodermal dysplasia 7.8 DES LMNA MYH7 RBM20 SCN5A TPM1
24 casr-related disorders 7.8 DES LMNA MYH7 RBM20 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

MGI Mouse Phenotypes related to Myh7-Related Dilated Cardiomyopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 DES LMNA MYH7 RBM20 SCN5A
2 muscle MP:0005369 9.02 LMNA MYH7 RBM20 SCN5A DES

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 22)
id Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh37 Chromosome 10, 112572068: 112572068
2 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
3 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
4 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
5 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
6 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
7 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
8 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
9 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
10 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
11 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
12 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
13 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
14 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
15 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
16 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
17 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
18 MYH7 NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys) single nucleotide variant Pathogenic rs727503253 GRCh37 Chromosome 14, 23893328: 23893328
19 SCN5A NM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs) duplication Pathogenic rs397514450 GRCh37 Chromosome 3, 38627418: 38627419
20 TTN NM_001256850.1(TTN): c.82432delG (p.Ala27478Leufs) deletion Pathogenic/Likely pathogenic rs794729356 GRCh37 Chromosome 2, 179422726: 179422726
21 DES NM_001927.3(DES): c.493_520del28insGCGT (p.Gln165_Ala174delinsAlaSer) indel Pathogenic rs1114167332 GRCh37 Chromosome 2, 220283677: 220283704
22 DES NM_001927.3(DES): c.1332_1335delGACG (p.Thr445Terfs) deletion Pathogenic rs1114167327 GRCh38 Chromosome 2, 219425706: 219425709

Expression for Myh7-Related Dilated Cardiomyopathy

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

Pathways for Myh7-Related Dilated Cardiomyopathy

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 sarcolemma GO:0042383 9.37 DES SCN5A
2 sarcomere GO:0030017 9.32 MYH7 TPM1
3 stress fiber GO:0001725 9.26 MYH7 TPM1
4 intercalated disc GO:0014704 9.16 DES SCN5A
5 myofibril GO:0030016 8.96 MYH7 TPM1
6 Z disc GO:0030018 8.8 DES MYH7 SCN5A

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

id Name GO ID Score Top Affiliating Genes
1 regulation of heart contraction GO:0008016 9.37 DES TPM1
2 muscle contraction GO:0006936 9.33 DES MYH7 TPM1
3 regulation of heart rate GO:0002027 9.32 MYH7 SCN5A
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.26 MYH7 TPM1
5 cardiac muscle contraction GO:0060048 9.13 MYH7 SCN5A TPM1
6 muscle filament sliding GO:0030049 8.8 DES MYH7 TPM1

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.96 DES TPM1
2 cytoskeletal protein binding GO:0008092 8.62 DES TPM1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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