MCID: TPM001
MIFTS: 21

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 23
Cardiomyopathy, Dilated, 1y 66
 
Cmd1y 23

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 Hypertrophic cardiomyopathy (HCM) and Cardiac muscle contraction.

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
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
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, 1e30.1MYH7, SCN5A, TPM1
2cardiomyopathy, dilated, 1a10.0
3symmastia9.5MYH7, SCN5A
4ulceroglandular tularemia9.5MYH7, TPM1
5atrial standstill, digenic9.5MYH7, SCN5A
6autoimmune disease of skin and connective tissue9.4MYH7, TPM1
7myl2-related familial hypertrophic cardiomyopathy9.2MYH7, SCN5A, TPM1
8scn5a-related dilated cardiomyopathy9.2MYH7, SCN5A, TPM1
9scn5a-related romano ward syndrome9.2MYH7, SCN5A, TPM1
10tpm2-related arthrogryposis multiplex congenita, distal, type 2b9.1MYH7, SCN5A, TPM1
11craniosynostosis9.1MYH7, SCN5A
12longitudinal vaginal septum9.1MYH7, SCN5A, TPM1
13chicken egg allergy9.1MYH7, SCN5A, TPM1
14ectodermal dysplasia9.1MYH7, SCN5A, TPM1
15cardiovascular disease risk factor )8.9MYH7, SCN5A, TPM1

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



Diseases related to tpm1-related dilated cardiomyopathy

Symptoms 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 Cardiomyopathy23 TPM1

Anatomical Context for Tpm1-Related Dilated Cardiomyopathy

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Animal Models for Tpm1-Related Dilated Cardiomyopathy or affiliated genes

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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)single nucleotide variantPathogenicrs104894505GRCh37Chr 15, 63336271: 63336271
2MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
3SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
4SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
5MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
6SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
7SCN5ANM_001160160.1(SCN5A): c.3820G> A (p.Asp1274Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 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
1
Show member pathways
9.1MYH7, TPM1
29.1MYH7, TPM1
3
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
1sarcomereGO:00300179.4MYH7, TPM1
2stress fiberGO:00017259.2MYH7, TPM1
3myofibrilGO:00300169.1MYH7, TPM1
4Z discGO:00300188.7MYH7, SCN5A

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

idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle tissue morphogenesisGO:00550109.4MYH7, TPM1
2muscle filament slidingGO:00300499.2MYH7, TPM1
3regulation of heart rateGO:00020279.0MYH7, SCN5A
4muscle contractionGO:00069368.8MYH7, TPM1
5cardiac muscle contractionGO:00600488.5MYH7, SCN5A, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:00055169.2MYH7, SCN5A
2actin bindingGO:00037799.1MYH7, TPM1

Sources for Tpm1-Related Dilated Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet