MCID: CRD094
MIFTS: 23

Cardiomyopathy, Dilated, 1s malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases, Ear diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Cardiomyopathy, Dilated, 1s

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Cardiomyopathy, Dilated, 1s, also known as cardiomyopathy, dilated, 1y, is related to familial hypertrophic cardiomyopathy and hypertrophic cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1s is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Adrenergic signaling in cardiomyocytes and Hypertrophic cardiomyopathy (HCM).

Description from OMIM:47 613426,611878

Aliases & Classifications for Cardiomyopathy, Dilated, 1s

About this section
Sources:
47OMIM
See all sources

Classifications:



Aliases & Descriptions:

cardiomyopathy, dilated, 1s 47
cardiomyopathy, dilated, 1y 47


Related Diseases for Cardiomyopathy, Dilated, 1s

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Dilated Cardiomyopathy family:

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
Cardiomyopathy, Dilated, 1ll 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, 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 1b
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated 1c
Cardiomyopathy, Dilated, 1dd Cardiomyopathy, Dilated, 1hh
Cardiomyopathy, Dilated, 1m Cardiomyopathy, Dilated, 1mm
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
cardiomyopathy, dilated, 1s Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff

Diseases related to Cardiomyopathy, Dilated, 1s via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial hypertrophic cardiomyopathy10.0MYH7, TPM1
2hypertrophic cardiomyopathy10.0MYH7, TPM1
3sudden cardiac death multi-gene panels10.0TPM1, MYH7
4hypertrophy of breast10.0MYH7, TPM1
5dilated cardiomyopathy10.0MYH7, TPM1
6myopathy9.9MYH7, TPM1

Graphical network of diseases related to Cardiomyopathy, Dilated, 1s:



Diseases related to cardiomyopathy, dilated, 1s

Symptoms for Cardiomyopathy, Dilated, 1s

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

613426

Clinical features from OMIM:

613426,611878

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1s

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1s

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1s

Genetic Tests for Cardiomyopathy, Dilated, 1s

About this section

Anatomical Context for Cardiomyopathy, Dilated, 1s

About this section

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

About this section

Publications for Cardiomyopathy, Dilated, 1s

About this section

Variations for Cardiomyopathy, Dilated, 1s

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1s:

64 (show all 18)
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
15TPM1p.Glu40LysVAR_043986
16TPM1p.Glu54LysVAR_043987
17TPM1p.Glu192LysVAR_070121
18TPM1p.Lys248GluVAR_070122

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

1
id Gene Name 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.5378_5380delTGC (p.Leu1793del)deletionPathogenicGRCh37Chr 14, 23884383: 23884385
8MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Cardiomyopathy, Dilated, 1s

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Dilated, 1s

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1s.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1s

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Cardiomyopathy, Dilated, 1s according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MYH7, TPM1
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1MYH7, TPM1
39.1MYH7, TPM1

Compounds for genes affiliated with Cardiomyopathy, Dilated, 1s

About this section

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

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Cardiomyopathy, Dilated, 1s according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.1MYH7, TPM1
2sarcomereGO:0300178.8MYH7, TPM1

Biological processes related to Cardiomyopathy, Dilated, 1s according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.1MYH7, TPM1
2ventricular cardiac muscle tissue morphogenesisGO:0550109.0MYH7, TPM1
3muscle filament slidingGO:0300498.8MYH7, TPM1

Molecular functions related to Cardiomyopathy, Dilated, 1s according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037799.1MYH7, TPM1

Products for genes affiliated with Cardiomyopathy, Dilated, 1s

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Dilated, 1s

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet