MCID: CRD092
MIFTS: 17

Cardiomyopathy, Dilated, 1w

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 57 13 73
Dilated Cardiomyopathy 1w 12 29 6
Cmd1w 57 12 75
Cardiomyopathy, Dilated, Type 1w 40
Cardiomyopathy, Dilated 1w 75

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1w:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611407
Disease Ontology 12 DOID:0110446
ICD10 33 I42.0
MedGen 42 C1969639
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C1969639

Summaries for Cardiomyopathy, Dilated, 1w

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy 1w. An important gene associated with Cardiomyopathy, Dilated, 1w is VCL (Vinculin). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

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:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 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 29 VCL

Anatomical Context for Cardiomyopathy, Dilated, 1w

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1w

Variations for Cardiomyopathy, Dilated, 1w

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

75
# Symbol AA change Variation ID SNP ID
1 VCL p.Arg975Trp VAR_035105 rs121917776

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

6
(show top 50) (show all 229)
# Gene Variation Type Significance SNP ID Assembly Location
1 VCL VCL, 3-BP DEL, 2862GTT deletion Pathogenic
2 VCL NM_014000.2(VCL): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs144080529 GRCh37 Chromosome 10, 75758085: 75758085
3 VCL NM_014000.2(VCL): c.120C> T (p.Leu40=) single nucleotide variant Benign/Likely benign rs144080529 GRCh38 Chromosome 10, 73998327: 73998327
4 VCL NM_014000.2(VCL): c.1294C> G (p.Leu432Val) single nucleotide variant Uncertain significance rs144146254 GRCh37 Chromosome 10, 75849898: 75849898
5 VCL NM_014000.2(VCL): c.1294C> G (p.Leu432Val) single nucleotide variant Uncertain significance rs144146254 GRCh38 Chromosome 10, 74090140: 74090140
6 VCL NM_014000.2(VCL): c.1348A> C (p.Arg450=) single nucleotide variant Benign/Likely benign rs142128712 GRCh37 Chromosome 10, 75849952: 75849952
7 VCL NM_014000.2(VCL): c.1348A> C (p.Arg450=) single nucleotide variant Benign/Likely benign rs142128712 GRCh38 Chromosome 10, 74090194: 74090194
8 VCL NM_014000.2(VCL): c.1575A> C (p.Glu525Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs548487697 GRCh37 Chromosome 10, 75855445: 75855445
9 VCL NM_014000.2(VCL): c.1575A> C (p.Glu525Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs548487697 GRCh38 Chromosome 10, 74095687: 74095687
10 VCL NM_014000.2(VCL): c.2046A> T (p.Leu682Phe) single nucleotide variant Uncertain significance rs565398652 GRCh37 Chromosome 10, 75863601: 75863601
11 VCL NM_014000.2(VCL): c.2046A> T (p.Leu682Phe) single nucleotide variant Uncertain significance rs565398652 GRCh38 Chromosome 10, 74103843: 74103843
12 VCL NM_014000.2(VCL): c.2841C> T (p.Asp947=) single nucleotide variant Likely benign rs566296495 GRCh37 Chromosome 10, 75871762: 75871762
13 VCL NM_014000.2(VCL): c.2841C> T (p.Asp947=) single nucleotide variant Likely benign rs566296495 GRCh38 Chromosome 10, 74112004: 74112004
14 VCL NM_014000.2(VCL): c.492T> G (p.Leu164=) single nucleotide variant Conflicting interpretations of pathogenicity rs143702799 GRCh37 Chromosome 10, 75830834: 75830834
15 VCL NM_014000.2(VCL): c.492T> G (p.Leu164=) single nucleotide variant Conflicting interpretations of pathogenicity rs143702799 GRCh38 Chromosome 10, 74071076: 74071076
16 VCL NM_014000.2(VCL): c.622+4C> T single nucleotide variant Benign/Likely benign rs201020802 GRCh37 Chromosome 10, 75832614: 75832614
17 VCL NM_014000.2(VCL): c.622+4C> T single nucleotide variant Benign/Likely benign rs201020802 GRCh38 Chromosome 10, 74072856: 74072856
18 VCL NM_014000.2(VCL): c.808T> C (p.Leu270=) single nucleotide variant Likely benign rs727505339 GRCh37 Chromosome 10, 75842236: 75842236
19 VCL NM_014000.2(VCL): c.808T> C (p.Leu270=) single nucleotide variant Likely benign rs727505339 GRCh38 Chromosome 10, 74082478: 74082478
20 VCL NM_014000.2(VCL): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs767325003 GRCh38 Chromosome 10, 74112087: 74112087
21 VCL NM_014000.2(VCL): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs767325003 GRCh37 Chromosome 10, 75871845: 75871845
22 VCL NM_014000.2(VCL): c.404T> C (p.Ile135Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373744314 GRCh37 Chromosome 10, 75830746: 75830746
23 VCL NM_014000.2(VCL): c.404T> C (p.Ile135Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373744314 GRCh38 Chromosome 10, 74070988: 74070988
24 VCL NM_014000.2(VCL): c.1157A> G (p.Lys386Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200342284 GRCh37 Chromosome 10, 75849088: 75849088
25 VCL NM_014000.2(VCL): c.1157A> G (p.Lys386Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200342284 GRCh38 Chromosome 10, 74089330: 74089330
26 VCL NM_014000.2(VCL): c.1607C> A (p.Pro536His) single nucleotide variant Conflicting interpretations of pathogenicity rs200624351 GRCh37 Chromosome 10, 75855477: 75855477
27 VCL NM_014000.2(VCL): c.1607C> A (p.Pro536His) single nucleotide variant Conflicting interpretations of pathogenicity rs200624351 GRCh38 Chromosome 10, 74095719: 74095719
28 VCL NM_014000.2(VCL): c.2521G> C (p.Asp841His) single nucleotide variant Conflicting interpretations of pathogenicity rs150385900 GRCh37 Chromosome 10, 75867074: 75867074
29 VCL NM_014000.2(VCL): c.2521G> C (p.Asp841His) single nucleotide variant Conflicting interpretations of pathogenicity rs150385900 GRCh38 Chromosome 10, 74107316: 74107316
30 VCL NM_014000.2(VCL): c.2827C> G (p.Pro943Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs71579375 GRCh37 Chromosome 10, 75871748: 75871748
31 VCL NM_014000.2(VCL): c.2827C> G (p.Pro943Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs71579375 GRCh38 Chromosome 10, 74111990: 74111990
32 VCL NM_014000.2(VCL): c.81C> T (p.His27=) single nucleotide variant Benign/Likely benign rs200733607 GRCh38 Chromosome 10, 73998288: 73998288
33 VCL NM_014000.2(VCL): c.81C> T (p.His27=) single nucleotide variant Benign/Likely benign rs200733607 GRCh37 Chromosome 10, 75758046: 75758046
34 VCL NM_014000.2(VCL): c.737G> A (p.Arg246His) single nucleotide variant Uncertain significance rs746577068 GRCh37 Chromosome 10, 75834615: 75834615
35 VCL NM_014000.2(VCL): c.737G> A (p.Arg246His) single nucleotide variant Uncertain significance rs746577068 GRCh38 Chromosome 10, 74074857: 74074857
36 VCL NM_014000.2(VCL): c.1403C> T (p.Thr468Met) single nucleotide variant Uncertain significance rs147957747 GRCh38 Chromosome 10, 74094321: 74094321
37 VCL NM_014000.2(VCL): c.1403C> T (p.Thr468Met) single nucleotide variant Uncertain significance rs147957747 GRCh37 Chromosome 10, 75854079: 75854079
38 VCL NM_014000.2(VCL): c.1708C> T (p.Arg570Ter) single nucleotide variant Uncertain significance rs794729191 GRCh37 Chromosome 10, 75855578: 75855578
39 VCL NM_014000.2(VCL): c.1708C> T (p.Arg570Ter) single nucleotide variant Uncertain significance rs794729191 GRCh38 Chromosome 10, 74095820: 74095820
40 VCL NM_014000.2(VCL): c.2000C> T (p.Thr667Met) single nucleotide variant Uncertain significance rs794729187 GRCh38 Chromosome 10, 74101075: 74101075
41 VCL NM_014000.2(VCL): c.2000C> T (p.Thr667Met) single nucleotide variant Uncertain significance rs794729187 GRCh37 Chromosome 10, 75860833: 75860833
42 VCL NM_014000.2(VCL): c.2828_2829delCT (p.Pro943Argfs) deletion Conflicting interpretations of pathogenicity rs781036800 GRCh38 Chromosome 10, 74111991: 74111992
43 VCL NM_014000.2(VCL): c.2828_2829delCT (p.Pro943Argfs) deletion Conflicting interpretations of pathogenicity rs781036800 GRCh37 Chromosome 10, 75871749: 75871750
44 VCL NM_014000.2(VCL): c.2468G> A (p.Arg823Gln) single nucleotide variant Uncertain significance rs759202535 GRCh37 Chromosome 10, 75867021: 75867021
45 VCL NM_014000.2(VCL): c.2468G> A (p.Arg823Gln) single nucleotide variant Uncertain significance rs759202535 GRCh38 Chromosome 10, 74107263: 74107263
46 VCL NM_014000.2(VCL): c.622+4C> G single nucleotide variant Uncertain significance rs201020802 GRCh37 Chromosome 10, 75832614: 75832614
47 VCL NM_014000.2(VCL): c.622+4C> G single nucleotide variant Uncertain significance rs201020802 GRCh38 Chromosome 10, 74072856: 74072856
48 VCL NM_014000.2(VCL): c.1308G> A (p.Gly436=) single nucleotide variant Likely benign rs878854970 GRCh37 Chromosome 10, 75849912: 75849912
49 VCL NM_014000.2(VCL): c.45G> A (p.Pro15=) single nucleotide variant Conflicting interpretations of pathogenicity rs775062250 GRCh37 Chromosome 10, 75758010: 75758010
50 VCL NM_014000.2(VCL): c.45G> A (p.Pro15=) single nucleotide variant Conflicting interpretations of pathogenicity rs775062250 GRCh38 Chromosome 10, 73998252: 73998252

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

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