MCID: CRD092
MIFTS: 18

Cardiomyopathy, Dilated, 1w malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 49 11 65
Cardiomyopathy, Dilated 1w 67
 
Cmd1w 67

Characteristics:

HPO:

61
cardiomyopathy, dilated, 1w:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 611407
MedGen34 C1969639
MeSH36 D002311
UMLS65 C1969639

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 has symptoms including 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 Cryab-Related Dilated Cardiomyopathy
Mypn-Related 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 cardiomyopathy11.4

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 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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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 pathogenicrs727505159GRCh38Chr 10, 74114804: 74114804
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