MCID: CRD092
MIFTS: 17

Cardiomyopathy, Dilated, 1w

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 53 13 69
Cmd1w 53 12 71
Dilated Cardiomyopathy 1w 12 28
Cardiomyopathy, Dilated 1w 71

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1w:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 611407
Disease Ontology 12 DOID:0110446
ICD10 32 I42.0
MedGen 39 C1969639
MeSH 41 D002311
SNOMED-CT via HPO 65 263681008 195021004 399020009
UMLS 69 C1969639

Summaries for Cardiomyopathy, Dilated, 1w

UniProtKB/Swiss-Prot : 71 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, is also known as cmd1w, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1w is VCL (Vinculin). Affiliated tissues include heart.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the VCL gene on chromosome 10q22.2.

Description from OMIM: 611407

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1w

Clinical features from OMIM:

611407

Human phenotypes related to Cardiomyopathy, Dilated, 1w:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1w

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

Genetic Tests for Cardiomyopathy, Dilated, 1w

Genetic tests related to Cardiomyopathy, Dilated, 1w:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1w 28 VCL

Anatomical Context for Cardiomyopathy, Dilated, 1w

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1w

Variations for Cardiomyopathy, Dilated, 1w

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

71
# Symbol AA change Variation ID SNP ID
1 VCL p.Arg975Trp VAR_035105 rs121917776

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VCL VCL, 3-BP DEL, 2862GTT deletion Pathogenic
2 VCL NM_014000.2(VCL): c.2923C> T (p.Arg975Trp) single nucleotide variant Pathogenic rs121917776 GRCh37 Chromosome 10, 75871844: 75871844

Expression for Cardiomyopathy, Dilated, 1w

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

Pathways for Cardiomyopathy, Dilated, 1w

GO Terms for Cardiomyopathy, Dilated, 1w

Sources for Cardiomyopathy, Dilated, 1w

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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