CMD1W
MCID: CRD092
MIFTS: 18

Cardiomyopathy, Dilated, 1w (CMD1W)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1w

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1w:

Name: Cardiomyopathy, Dilated, 1w 58 13 74
Dilated Cardiomyopathy 1w 12 30 6
Cmd1w 58 12 76
Cardiomyopathy, Dilated, Type 1w 41
Cardiomyopathy, Dilated 1w 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1w:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110446
OMIM 58 611407
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1969639
SNOMED-CT via HPO 70 195021004 263681008 399020009
UMLS 74 C1969639

Summaries for Cardiomyopathy, Dilated, 1w

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1w:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

611407

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 30 VCL

Anatomical Context for Cardiomyopathy, Dilated, 1w

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1w

Articles related to Cardiomyopathy, Dilated, 1w:

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

Variations for Cardiomyopathy, Dilated, 1w

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

76
# 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 344)
# 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 Uncertain significance rs121917776 GRCh37 Chromosome 10, 75871844: 75871844
3 VCL NM_014000.2(VCL): c.2923C> T (p.Arg975Trp) single nucleotide variant Uncertain significance rs121917776 GRCh38 Chromosome 10, 74112086: 74112086
4 VCL NM_014000.2(VCL): c.829C> A (p.Leu277Met) single nucleotide variant Uncertain significance rs71579353 GRCh37 Chromosome 10, 75842257: 75842257
5 VCL NM_014000.2(VCL): c.829C> A (p.Leu277Met) single nucleotide variant Uncertain significance rs71579353 GRCh38 Chromosome 10, 74082499: 74082499
6 VCL NM_014000.2(VCL): c.2025G> A (p.Val675=) single nucleotide variant Benign/Likely benign rs140766884 GRCh37 Chromosome 10, 75863580: 75863580
7 VCL NM_014000.2(VCL): c.2025G> A (p.Val675=) single nucleotide variant Benign/Likely benign rs140766884 GRCh38 Chromosome 10, 74103822: 74103822
8 VCL NM_014000.2(VCL): c.339G> A (p.Arg113=) single nucleotide variant Benign/Likely benign rs56314318 GRCh37 Chromosome 10, 75830527: 75830527
9 VCL NM_014000.2(VCL): c.339G> A (p.Arg113=) single nucleotide variant Benign/Likely benign rs56314318 GRCh38 Chromosome 10, 74070769: 74070769
10 VCL NM_014000.2(VCL): c.768T> C (p.Asp256=) single nucleotide variant Benign/Likely benign rs56413529 GRCh37 Chromosome 10, 75834646: 75834646
11 VCL NM_014000.2(VCL): c.768T> C (p.Asp256=) single nucleotide variant Benign/Likely benign rs56413529 GRCh38 Chromosome 10, 74074888: 74074888
12 VCL NM_014000.2(VCL): c.1237G> A (p.Ala413Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146278697 GRCh37 Chromosome 10, 75849841: 75849841
13 VCL NM_014000.2(VCL): c.1237G> A (p.Ala413Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146278697 GRCh38 Chromosome 10, 74090083: 74090083
14 VCL NM_014000.2(VCL): c.1317T> C (p.Ser439=) single nucleotide variant Benign rs71579355 GRCh37 Chromosome 10, 75849921: 75849921
15 VCL NM_014000.2(VCL): c.1317T> C (p.Ser439=) single nucleotide variant Benign rs71579355 GRCh38 Chromosome 10, 74090163: 74090163
16 VCL NM_014000.2(VCL): c.1407C> T (p.Ala469=) single nucleotide variant Benign/Likely benign rs2229507 GRCh37 Chromosome 10, 75854083: 75854083
17 VCL NM_014000.2(VCL): c.1407C> T (p.Ala469=) single nucleotide variant Benign/Likely benign rs2229507 GRCh38 Chromosome 10, 74094325: 74094325
18 VCL NM_014000.2(VCL): c.1506G> A (p.Arg502=) single nucleotide variant Benign/Likely benign rs2228373 GRCh37 Chromosome 10, 75854182: 75854182
19 VCL NM_014000.2(VCL): c.1506G> A (p.Arg502=) single nucleotide variant Benign/Likely benign rs2228373 GRCh38 Chromosome 10, 74094424: 74094424
20 VCL NM_014000.2(VCL): c.1542C> T (p.Val514=) single nucleotide variant Conflicting interpretations of pathogenicity rs7904077 GRCh37 Chromosome 10, 75854218: 75854218
21 VCL NM_014000.2(VCL): c.1542C> T (p.Val514=) single nucleotide variant Conflicting interpretations of pathogenicity rs7904077 GRCh38 Chromosome 10, 74094460: 74094460
22 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh37 Chromosome 10, 75855425: 75855425
23 VCL NM_014000.2(VCL): c.1555A> C (p.Ile519Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141033098 GRCh38 Chromosome 10, 74095667: 74095667
24 VCL NM_014000.2(VCL): c.1557C> A (p.Ile519=) single nucleotide variant Benign rs150120464 GRCh37 Chromosome 10, 75855427: 75855427
25 VCL NM_014000.2(VCL): c.1557C> A (p.Ile519=) single nucleotide variant Benign rs150120464 GRCh38 Chromosome 10, 74095669: 74095669
26 VCL NM_014000.2(VCL): c.1572C> T (p.Ala524=) single nucleotide variant Benign/Likely benign rs138566234 GRCh37 Chromosome 10, 75855442: 75855442
27 VCL NM_014000.2(VCL): c.1572C> T (p.Ala524=) single nucleotide variant Benign/Likely benign rs138566234 GRCh38 Chromosome 10, 74095684: 74095684
28 VCL NM_014000.2(VCL): c.1626C> T (p.Leu542=) single nucleotide variant Benign/Likely benign rs150402791 GRCh37 Chromosome 10, 75855496: 75855496
29 VCL NM_014000.2(VCL): c.1626C> T (p.Leu542=) single nucleotide variant Benign/Likely benign rs150402791 GRCh38 Chromosome 10, 74095738: 74095738
30 VCL NM_014000.2(VCL): c.1671C> T (p.Asp557=) single nucleotide variant Conflicting interpretations of pathogenicity rs137877092 GRCh37 Chromosome 10, 75855541: 75855541
31 VCL NM_014000.2(VCL): c.1671C> T (p.Asp557=) single nucleotide variant Conflicting interpretations of pathogenicity rs137877092 GRCh38 Chromosome 10, 74095783: 74095783
32 VCL NM_014000.2(VCL): c.1716T> G (p.Leu572=) single nucleotide variant Conflicting interpretations of pathogenicity rs189781480 GRCh37 Chromosome 10, 75855586: 75855586
33 VCL NM_014000.2(VCL): c.1716T> G (p.Leu572=) single nucleotide variant Conflicting interpretations of pathogenicity rs189781480 GRCh38 Chromosome 10, 74095828: 74095828
34 VCL NM_014000.2(VCL): c.1788A> C (p.Ser596=) single nucleotide variant Benign/Likely benign rs199582103 GRCh37 Chromosome 10, 75857006: 75857006
35 VCL NM_014000.2(VCL): c.1788A> C (p.Ser596=) single nucleotide variant Benign/Likely benign rs199582103 GRCh38 Chromosome 10, 74097248: 74097248
36 VCL NM_014000.2(VCL): c.1842G> A (p.Thr614=) single nucleotide variant Benign/Likely benign rs144117013 GRCh37 Chromosome 10, 75857060: 75857060
37 VCL NM_014000.2(VCL): c.1842G> A (p.Thr614=) single nucleotide variant Benign/Likely benign rs144117013 GRCh38 Chromosome 10, 74097302: 74097302
38 VCL NM_014000.2(VCL): c.1844C> T (p.Ala615Val) single nucleotide variant Uncertain significance rs148669762 GRCh37 Chromosome 10, 75857062: 75857062
39 VCL NM_014000.2(VCL): c.1844C> T (p.Ala615Val) single nucleotide variant Uncertain significance rs148669762 GRCh38 Chromosome 10, 74097304: 74097304
40 VCL NM_014000.2(VCL): c.1907A> G (p.His636Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs71579374 GRCh37 Chromosome 10, 75860740: 75860740
41 VCL NM_014000.2(VCL): c.1907A> G (p.His636Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs71579374 GRCh38 Chromosome 10, 74100982: 74100982
42 VCL NM_014000.2(VCL): c.2444A> G (p.Lys815Arg) single nucleotide variant Uncertain significance rs373010557 GRCh37 Chromosome 10, 75866997: 75866997
43 VCL NM_014000.2(VCL): c.2444A> G (p.Lys815Arg) single nucleotide variant Uncertain significance rs373010557 GRCh38 Chromosome 10, 74107239: 74107239
44 VCL NM_014000.2(VCL): c.2796T> C (p.Asp932=) single nucleotide variant Benign/Likely benign rs140308982 GRCh37 Chromosome 10, 75871717: 75871717
45 VCL NM_014000.2(VCL): c.2796T> C (p.Asp932=) single nucleotide variant Benign/Likely benign rs140308982 GRCh38 Chromosome 10, 74111959: 74111959
46 VCL NM_014000.2(VCL): c.2801C> T (p.Ala934Val) single nucleotide variant Benign/Likely benign rs16931179 GRCh37 Chromosome 10, 75871722: 75871722
47 VCL NM_014000.2(VCL): c.2801C> T (p.Ala934Val) single nucleotide variant Benign/Likely benign rs16931179 GRCh38 Chromosome 10, 74111964: 74111964
48 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 GRCh37 Chromosome 10, 75871783: 75871785
49 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 GRCh38 Chromosome 10, 74112025: 74112027
50 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 NCBI36 Chromosome 10, 75541789: 75541791

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

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