CMD1W
MCID: CRD092
MIFTS: 24

Cardiomyopathy, Dilated, 1w (CMD1W)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 57 13 70
Dilated Cardiomyopathy 1w 12 29 6
Cmd1w 57 12 72
Cardiomyopathy, Dilated, Type 1w 39
Cardiomyopathy, Dilated 1w 72

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110446
OMIM® 57 611407
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1969639
SNOMED-CT via HPO 68 195021004 263681008 399020009
UMLS 70 C1969639

Summaries for Cardiomyopathy, Dilated, 1w

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 611407 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1w

Human phenotypes related to Cardiomyopathy, Dilated, 1w:

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

Clinical features from OMIM®:

611407 (Updated 20-May-2021)

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 1w

Articles related to Cardiomyopathy, Dilated, 1w:

# Title Authors PMID Year
1
Metavinculin mutations alter actin interaction in dilated cardiomyopathy. 57 6
11815424 2002
2
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 6
16949038 2006
3
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. 6
16236538 2006

Variations for Cardiomyopathy, Dilated, 1w

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

6 (show top 50) (show all 390)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VCL VCL, 3-BP DEL, 2862GTT Deletion Pathogenic 12196 GRCh37:
GRCh38:
2 VCL NM_014000.3(VCL):c.492T>G (p.Leu164=) SNV Conflicting interpretations of pathogenicity 166536 rs143702799 GRCh37: 10:75830834-75830834
GRCh38: 10:74071076-74071076
3 VCL NM_014000.2(VCL):c.81C>T (p.His27=) SNV Conflicting interpretations of pathogenicity 202145 rs200733607 GRCh37: 10:75758046-75758046
GRCh38: 10:73998288-73998288
4 VCL NM_014000.3(VCL):c.1317T>C (p.Ser439=) SNV Conflicting interpretations of pathogenicity 45577 rs71579355 GRCh37: 10:75849921-75849921
GRCh38: 10:74090163-74090163
5 VCL NM_014000.3(VCL):c.2025G>A (p.Val675=) SNV Conflicting interpretations of pathogenicity 36896 rs140766884 GRCh37: 10:75863580-75863580
GRCh38: 10:74103822-74103822
6 VCL NM_014000.2(VCL):c.2472C>G (p.Ile824Met) SNV Conflicting interpretations of pathogenicity 240879 rs140381835 GRCh37: 10:75867025-75867025
GRCh38: 10:74107267-74107267
7 VCL NM_014000.3(VCL):c.1716T>G (p.Leu572=) SNV Conflicting interpretations of pathogenicity 45588 rs189781480 GRCh37: 10:75855586-75855586
GRCh38: 10:74095828-74095828
8 VCL NM_014000.2(VCL):c.2427C>T (p.Ser809=) SNV Conflicting interpretations of pathogenicity 300794 rs183739128 GRCh37: 10:75865104-75865104
GRCh38: 10:74105346-74105346
9 VCL NM_014000.3(VCL):c.622+4C>T SNV Conflicting interpretations of pathogenicity 166538 rs201020802 GRCh37: 10:75832614-75832614
GRCh38: 10:74072856-74072856
10 VCL NM_014000.3(VCL):c.1290C>T (p.Asp430=) SNV Conflicting interpretations of pathogenicity 137902 rs576271894 GRCh37: 10:75849894-75849894
GRCh38: 10:74090136-74090136
11 VCL NM_014000.2(VCL):c.1543+8C>G SNV Conflicting interpretations of pathogenicity 300789 rs886047218 GRCh37: 10:75854227-75854227
GRCh38: 10:74094469-74094469
12 VCL NM_014000.3(VCL):c.3066C>T (p.Ile1022=) SNV Conflicting interpretations of pathogenicity 45604 rs138619320 GRCh37: 10:75874058-75874058
GRCh38: 10:74114300-74114300
13 VCL NM_014000.3(VCL):c.2796T>C (p.Asp932=) SNV Conflicting interpretations of pathogenicity 45598 rs140308982 GRCh37: 10:75871717-75871717
GRCh38: 10:74111959-74111959
14 VCL NM_014000.3(VCL):c.808T>C (p.Leu270=) SNV Conflicting interpretations of pathogenicity 180088 rs727505339 GRCh37: 10:75842236-75842236
GRCh38: 10:74082478-74082478
15 VCL NM_014000.3(VCL):c.378C>T (p.Phe126=) SNV Conflicting interpretations of pathogenicity 45613 rs148966602 GRCh37: 10:75830566-75830566
GRCh38: 10:74070808-74070808
16 VCL NM_014000.2(VCL):c.2802C>T (p.Ala934=) SNV Conflicting interpretations of pathogenicity 300796 rs372381809 GRCh37: 10:75871723-75871723
GRCh38: 10:74111965-74111965
17 VCL NM_014000.2(VCL):c.3186G>A (p.Gln1062=) SNV Conflicting interpretations of pathogenicity 300798 rs761534024 GRCh37: 10:75874585-75874585
GRCh38: 10:74114827-74114827
18 VCL NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) SNV Conflicting interpretations of pathogenicity 45582 rs141033098 GRCh37: 10:75855425-75855425
GRCh38: 10:74095667-74095667
19 VCL NM_014000.2(VCL):c.1607C>A (p.Pro536His) SNV Conflicting interpretations of pathogenicity 192105 rs200624351 GRCh37: 10:75855477-75855477
GRCh38: 10:74095719-74095719
20 VCL NM_014000.3(VCL):c.3258+10A>T SNV Conflicting interpretations of pathogenicity 45609 rs71579379 GRCh37: 10:75874667-75874667
GRCh38: 10:74114909-74114909
21 VCL NM_014000.3(VCL):c.2862_2864del (p.Leu955del) Deletion Conflicting interpretations of pathogenicity 45602 rs397517237 GRCh37: 10:75871782-75871784
GRCh38: 10:74112024-74112026
22 VCL NM_014000.3(VCL):c.1907A>G (p.His636Arg) SNV Conflicting interpretations of pathogenicity 45594 rs71579374 GRCh37: 10:75860740-75860740
GRCh38: 10:74100982-74100982
23 VCL NM_003373.4(VCL):c.2035G>T (p.Ala679Ser) SNV Uncertain significance 523618 rs375392559 GRCh37: 10:75863590-75863590
GRCh38: 10:74103832-74103832
24 VCL NM_003373.4(VCL):c.2746-2193_2746-2192del Deletion Uncertain significance 202163 rs781036800 GRCh37: 10:75871749-75871750
GRCh38: 10:74111991-74111992
25 VCL NM_003373.4(VCL):c.1713del (p.Ala573fs) Deletion Uncertain significance 468811 rs779488376 GRCh37: 10:75855583-75855583
GRCh38: 10:74095825-74095825
26 VCL NM_014000.3(VCL):c.562C>T (p.Arg188Ter) SNV Uncertain significance 45615 rs397517244 GRCh37: 10:75832550-75832550
GRCh38: 10:74072792-74072792
27 VCL NM_014000.3(VCL):c.2338C>T (p.Arg780Cys) SNV Uncertain significance 877731 GRCh37: 10:75865015-75865015
GRCh38: 10:74105257-74105257
28 VCL NM_014000.3(VCL):c.*1526A>G SNV Uncertain significance 877769 GRCh37: 10:75879453-75879453
GRCh38: 10:74119695-74119695
29 VCL NM_014000.2(VCL):c.1177-14G>A SNV Uncertain significance 381302 rs778137720 GRCh37: 10:75849767-75849767
GRCh38: 10:74090009-74090009
30 VCL NM_014000.3(VCL):c.1404G>A (p.Thr468=) SNV Uncertain significance 878722 GRCh37: 10:75854080-75854080
GRCh38: 10:74094322-74094322
31 VCL NM_014000.3(VCL):c.*1751C>T SNV Uncertain significance 878806 GRCh37: 10:75879678-75879678
GRCh38: 10:74119920-74119920
32 VCL NM_014000.3(VCL):c.*1793C>T SNV Uncertain significance 878807 GRCh37: 10:75879720-75879720
GRCh38: 10:74119962-74119962
33 VCL NM_014000.3(VCL):c.*1794G>A SNV Uncertain significance 878808 GRCh37: 10:75879721-75879721
GRCh38: 10:74119963-74119963
34 VCL NC_000010.11:g.73998112C>T SNV Uncertain significance 879267 GRCh37: 10:75757870-75757870
GRCh38: 10:73998112-73998112
35 VCL NM_014000.3(VCL):c.-58G>T SNV Uncertain significance 879268 GRCh37: 10:75757908-75757908
GRCh38: 10:73998150-73998150
36 VCL NM_014000.3(VCL):c.36C>T (p.Ile12=) SNV Uncertain significance 879269 GRCh37: 10:75758001-75758001
GRCh38: 10:73998243-73998243
37 VCL NM_014000.3(VCL):c.1433A>G (p.Asn478Ser) SNV Uncertain significance 879309 GRCh37: 10:75854109-75854109
GRCh38: 10:74094351-74094351
38 VCL NM_014000.3(VCL):c.1472T>C (p.Val491Ala) SNV Uncertain significance 879310 GRCh37: 10:75854148-75854148
GRCh38: 10:74094390-74094390
39 VCL NM_014000.3(VCL):c.1599G>C (p.Met533Ile) SNV Uncertain significance 879311 GRCh37: 10:75855469-75855469
GRCh38: 10:74095711-74095711
40 VCL NM_014000.2(VCL):c.1192C>T (p.Pro398Ser) SNV Uncertain significance 192103 rs201528612 GRCh37: 10:75849796-75849796
GRCh38: 10:74090038-74090038
41 VCL NM_003373.4(VCL):c.2285G>A (p.Arg762Gln) SNV Uncertain significance 640172 rs540039788 GRCh37: 10:75864962-75864962
GRCh38: 10:74105204-74105204
42 VCL NM_014000.2(VCL):c.20G>T (p.Arg7Leu) SNV Uncertain significance 640967 rs764871020 GRCh37: 10:75757985-75757985
GRCh38: 10:73998227-73998227
43 VCL NM_014000.2(VCL):c.1225C>T (p.Arg409Ter) SNV Uncertain significance 192104 rs202005455 GRCh37: 10:75849829-75849829
GRCh38: 10:74090071-74090071
44 VCL NM_003373.4(VCL):c.2835_2839dup (p.Leu947fs) Duplication Uncertain significance 642872 rs748708754 GRCh37: 10:75874030-75874031
GRCh38: 10:74114272-74114273
45 VCL NM_014000.2(VCL):c.2543A>G (p.Asp848Gly) SNV Uncertain significance 645059 rs960105711 GRCh37: 10:75867096-75867096
GRCh38: 10:74107338-74107338
46 VCL NM_003373.4(VCL):c.3154G>A (p.Ala1052Thr) SNV Uncertain significance 647749 rs952929205 GRCh37: 10:75877880-75877880
GRCh38: 10:74118122-74118122
47 VCL NM_014000.2(VCL):c.1583G>A (p.Arg528His) SNV Uncertain significance 202160 rs746095066 GRCh37: 10:75855453-75855453
GRCh38: 10:74095695-74095695
48 VCL NM_014000.2(VCL):c.3164G>A (p.Arg1055Gln) SNV Uncertain significance 648072 rs878973480 GRCh37: 10:75874563-75874563
GRCh38: 10:74114805-74114805
49 VCL NM_003373.4(VCL):c.1612C>T (p.Arg538Trp) SNV Uncertain significance 648107 rs1371212023 GRCh37: 10:75855482-75855482
GRCh38: 10:74095724-74095724
50 VCL NM_014000.2(VCL):c.1835C>T (p.Ala612Val) SNV Uncertain significance 648270 rs1591707558 GRCh37: 10:75857053-75857053
GRCh38: 10:74097295-74097295

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

72
# Symbol AA change Variation ID SNP ID
1 VCL p.Arg975Trp VAR_035105 rs121917776

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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