MCID: TPM001
MIFTS: 20

Tpm1-Related Dilated Cardiomyopathy malady

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

Aliases & Classifications for Tpm1-Related Dilated Cardiomyopathy

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Aliases & Descriptions for Tpm1-Related Dilated Cardiomyopathy:

Name: Tpm1-Related Dilated Cardiomyopathy 24
Cardiomyopathy, Dilated, 1y 68
 
Cmd1y 24

Classifications:



Summaries for Tpm1-Related Dilated Cardiomyopathy

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MalaCards based summary: Tpm1-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated, 1y, is related to cardiomyopathy, dilated, 1e and cardiomyopathy, dilated, 1a. An important gene associated with Tpm1-Related Dilated Cardiomyopathy is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways are Cardiac muscle contraction and cGMP-PKG signaling pathway.

Related Diseases for Tpm1-Related Dilated Cardiomyopathy

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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 Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Prdm16-Related Dilated Cardiomyopathy Sdha-Related Dilated 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 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 Tpm1-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e30.3MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1a10.9
3symmastia9.6MYH7, SCN5A
4ulceroglandular tularemia9.5MYH7, TPM1
5atrial standstill, digenic9.5MYH7, SCN5A
6autoimmune disease of skin and connective tissue9.5MYH7, TPM1
7myl2-related familial hypertrophic cardiomyopathy9.3MYH7, SCN5A, TPM1
8scn5a-related dilated cardiomyopathy9.2MYH7, SCN5A, TPM1
9scn5a-related romano ward syndrome9.2MYH7, SCN5A, TPM1
10tpm2-related arthrogryposis multiplex congenita, distal, type 2b9.2MYH7, SCN5A, TPM1
11craniosynostosis9.2MYH7, SCN5A
12longitudinal vaginal septum9.2MYH7, SCN5A, TPM1
13chicken egg allergy9.2MYH7, SCN5A, TPM1
14ectodermal dysplasia9.1MYH7, SCN5A, TPM1
15cardiovascular disease risk factor )9.0MYH7, SCN5A, TPM1

Graphical network of diseases related to Tpm1-Related Dilated Cardiomyopathy:



Diseases related to tpm1-related dilated cardiomyopathy

Symptoms & Phenotypes for Tpm1-Related Dilated Cardiomyopathy

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Drugs & Therapeutics for Tpm1-Related Dilated Cardiomyopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Tpm1-Related Dilated Cardiomyopathy

Genetic Tests for Tpm1-Related Dilated Cardiomyopathy

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Genetic tests related to Tpm1-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Tpm1-Related Dilated Cardiomyopathy24 TPM1

Anatomical Context for Tpm1-Related Dilated Cardiomyopathy

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Publications for Tpm1-Related Dilated Cardiomyopathy

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Variations for Tpm1-Related Dilated Cardiomyopathy

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Clinvar genetic disease variations for Tpm1-Related Dilated Cardiomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TPM1NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys)SNVPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
2MYH7NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro)SNVPathogenicrs121913642GRCh37Chr 14, 23897088: 23897088
3MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
4MYH7NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys)SNVPathogenicrs727503253GRCh37Chr 14, 23893328: 23893328
5SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
6TPM1NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn)SNVPathogenicrs199476317GRCh37Chr 15, 63354462: 63354462
7SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)SNVPathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
8MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)SNVPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
9SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)SNVPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917

Expression for genes affiliated with Tpm1-Related Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Tpm1-Related Dilated Cardiomyopathy.

Pathways for genes affiliated with Tpm1-Related Dilated Cardiomyopathy

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Pathways related to Tpm1-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1MYH7, TPM1
2
Show member pathways
8.5MYH7, SCN5A, TPM1

GO Terms for genes affiliated with Tpm1-Related Dilated Cardiomyopathy

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Cellular components related to Tpm1-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:00300169.7MYH7, TPM1
2sarcomereGO:00300179.7MYH7, TPM1
3stress fiberGO:00017259.7MYH7, TPM1
4Z discGO:00300189.0MYH7, SCN5A

Biological processes related to Tpm1-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.7MYH7, TPM1
2muscle filament slidingGO:00300499.6MYH7, TPM1
3regulation of heart rateGO:00020279.4MYH7, SCN5A
4ventricular cardiac muscle tissue morphogenesisGO:00550109.1MYH7, TPM1
5cardiac muscle contractionGO:00600489.1MYH7, SCN5A, TPM1

Molecular functions related to Tpm1-Related Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.7MYH7, TPM1
2calmodulin bindingGO:00055169.0MYH7, SCN5A

Sources for Tpm1-Related Dilated Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet