MCID: CRD092
MIFTS: 22

Cardiomyopathy, Dilated, 1w malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 49 11 24
Cardiomyopathy, Dilated 1w 67
 
Cmd1w 67


Classifications:



External Ids:

OMIM49 611407
MedGen34 C1969639
MeSH36 D002311

Summaries for Cardiomyopathy, Dilated, 1w

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UniProtKB/Swiss-Prot:67 Cardiomyopathy, dilated 1W: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary: Cardiomyopathy, Dilated, 1w, also known as cardiomyopathy, dilated 1w, is related to vcl-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including autosomal dominant inheritanceand dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1w is VCL (Vinculin). Affiliated tissues include heart.

Description from OMIM:49 611407

Related Diseases for Cardiomyopathy, Dilated, 1w

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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 Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dmd-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 Cardiomyopathy, Dilated, 1w via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vcl-related dilated cardiomyopathy10.4
2cardiomyopathy, dilated, 1a10.1

Symptoms for Cardiomyopathy, Dilated, 1w

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Clinical features from OMIM:

611407

HPO human phenotypes related to Cardiomyopathy, Dilated, 1w:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1w

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiomyopathy, Dilated, 1w

Genetic Tests for Cardiomyopathy, Dilated, 1w

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Genetic tests related to Cardiomyopathy, Dilated, 1w:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1w24

Anatomical Context for Cardiomyopathy, Dilated, 1w

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MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1w:

33
Heart

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

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Publications for Cardiomyopathy, Dilated, 1w

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Variations for Cardiomyopathy, Dilated, 1w

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

67
id Symbol AA change Variation ID SNP ID
1VCLp.Arg975TrpVAR_035105

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1VCLVCL, 3-BP DEL, 2862GTTdeletionPathogenic
2VCLNM_014000.2(VCL): c.2923C> T (p.Arg975Trp)single nucleotide variantPathogenicrs121917776GRCh37Chr 10, 75871844: 75871844
3VCLNM_014000.2(VCL): c.1544-2A> Gsingle nucleotide variantLikely pathogenicrs727503738GRCh37Chr 10, 75855412: 75855412
4VCLNM_014000.2(VCL): c.3115C> T (p.Gln1039Ter)single nucleotide variantLikely pathogenicrs727503741GRCh37Chr 10, 75874107: 75874107
5VCLNM_014000.2(VCL): c.1762C> T (p.Gln588Ter)single nucleotide variantLikely pathogenicrs727504381GRCh37Chr 10, 75856980: 75856980
6VCLNM_014000.2(VCL): c.3163C> T (p.Arg1055Ter)single nucleotide variantLikely pathogenicrs727505159GRCh37Chr 10, 75874562: 75874562
7VCLNM_014000.2(VCL): c.1639C> T (p.Arg547Ter)single nucleotide variantLikely pathogenicrs397517234GRCh37Chr 10, 75855509: 75855509
8VCLNM_014000.2(VCL): c.313C> T (p.Arg105Ter)single nucleotide variantLikely pathogenicrs397517239GRCh37Chr 10, 75830501: 75830501
9VCLNM_014000.2(VCL): c.562C> T (p.Arg188Ter)single nucleotide variantLikely pathogenicrs397517244GRCh37Chr 10, 75832550: 75832550
10VCLNM_014000.2(VCL): c.659dupA (p.Asn220Lysfs)duplicationLikely pathogenicrs397517245GRCh37Chr 10, 75834537: 75834537

Expression for genes affiliated with Cardiomyopathy, Dilated, 1w

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1w

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

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Sources for Cardiomyopathy, Dilated, 1w

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet