CMD1W
MCID: CRD092
MIFTS: 17

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 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 342)
# 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

Sources for Cardiomyopathy, Dilated, 1w

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