CMD1M
MCID: CRD114
MIFTS: 20

Cardiomyopathy, Dilated, 1m (CMD1M)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1m

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1m:

Name: Cardiomyopathy, Dilated, 1m 58 13 74
Dilated Cardiomyopathy 1m 12 30 6
Cmd1m 58 12 76
Cardiomyopathy, Dilated, Type 1m 41
Cardiomyopathy, Dilated 1m 76

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110449
OMIM 58 607482
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1843808
UMLS 74 C1843808

Summaries for Cardiomyopathy, Dilated, 1m

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1M: 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, 1m, is also known as dilated cardiomyopathy 1m. An important gene associated with Cardiomyopathy, Dilated, 1m is CSRP3 (Cysteine And Glycine Rich Protein 3). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and impaired myocardial contractility

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the CSRP3 gene on chromosome 11p15.

Description from OMIM: 607482

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1m

Human phenotypes related to Cardiomyopathy, Dilated, 1m:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644
2 impaired myocardial contractility 33 HP:0006670
3 endocardial fibroelastosis 33 HP:0001706

Clinical features from OMIM:

607482

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1m

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

Genetic Tests for Cardiomyopathy, Dilated, 1m

Genetic tests related to Cardiomyopathy, Dilated, 1m:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1m 30 CSRP3

Anatomical Context for Cardiomyopathy, Dilated, 1m

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1m

Articles related to Cardiomyopathy, Dilated, 1m:

# Title Authors Year
1
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. ( 18505755 )
2008
2
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. ( 16352453 )
2006
3
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. ( 14567970 )
2003
4
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. ( 12507422 )
2002

Variations for Cardiomyopathy, Dilated, 1m

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

6 (show top 50) (show all 121)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSRP3 NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs45550635 GRCh37 Chromosome 11, 19213986: 19213986
2 CSRP3 NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs45550635 GRCh38 Chromosome 11, 19192439: 19192439
3 CSRP3 NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894205 GRCh37 Chromosome 11, 19209833: 19209833
4 CSRP3 NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894205 GRCh38 Chromosome 11, 19188286: 19188286
5 CSRP3 NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg) single nucleotide variant Uncertain significance rs137852764 GRCh37 Chromosome 11, 19209758: 19209758
6 CSRP3 NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg) single nucleotide variant Uncertain significance rs137852764 GRCh38 Chromosome 11, 19188211: 19188211
7 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh37 Chromosome 11, 19209828: 19209828
8 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh38 Chromosome 11, 19188281: 19188281
9 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh37 Chromosome 11, 19207812: 19207812
10 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh38 Chromosome 11, 19186265: 19186265
11 CSRP3 NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr) single nucleotide variant Uncertain significance rs145300736 GRCh37 Chromosome 11, 19209816: 19209816
12 CSRP3 NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr) single nucleotide variant Uncertain significance rs145300736 GRCh38 Chromosome 11, 19188269: 19188269
13 CSRP3 NM_003476.4(CSRP3): c.150G> A (p.Ala50=) single nucleotide variant Benign/Likely benign rs7124801 GRCh37 Chromosome 11, 19209814: 19209814
14 CSRP3 NM_003476.4(CSRP3): c.150G> A (p.Ala50=) single nucleotide variant Benign/Likely benign rs7124801 GRCh38 Chromosome 11, 19188267: 19188267
15 CSRP3 NM_003476.4(CSRP3): c.213C> T (p.Ile71=) single nucleotide variant Conflicting interpretations of pathogenicity rs45476991 GRCh37 Chromosome 11, 19209751: 19209751
16 CSRP3 NM_003476.4(CSRP3): c.213C> T (p.Ile71=) single nucleotide variant Conflicting interpretations of pathogenicity rs45476991 GRCh38 Chromosome 11, 19188204: 19188204
17 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 GRCh37 Chromosome 11, 19207878: 19207878
18 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 GRCh38 Chromosome 11, 19186331: 19186331
19 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 NCBI36 Chromosome 11, 19164454: 19164454
20 CSRP3 NM_003476.4(CSRP3): c.312C> G (p.Thr104=) single nucleotide variant Benign/Likely benign rs45582433 GRCh37 Chromosome 11, 19207865: 19207865
21 CSRP3 NM_003476.4(CSRP3): c.312C> G (p.Thr104=) single nucleotide variant Benign/Likely benign rs45582433 GRCh38 Chromosome 11, 19186318: 19186318
22 CSRP3 NM_003476.4(CSRP3): c.379G> A (p.Val127Ile) single nucleotide variant Uncertain significance rs149201422 GRCh37 Chromosome 11, 19207798: 19207798
23 CSRP3 NM_003476.4(CSRP3): c.379G> A (p.Val127Ile) single nucleotide variant Uncertain significance rs149201422 GRCh38 Chromosome 11, 19186251: 19186251
24 CSRP3 NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala) single nucleotide variant Uncertain significance rs397516859 GRCh37 Chromosome 11, 19204267: 19204267
25 CSRP3 NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala) single nucleotide variant Uncertain significance rs397516859 GRCh38 Chromosome 11, 19182720: 19182720
26 CSRP3 NM_003476.4(CSRP3): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs112848043 GRCh38 Chromosome 11, 19188255: 19188255
27 CSRP3 NM_003476.4(CSRP3): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs112848043 GRCh37 Chromosome 11, 19209802: 19209802
28 CSRP3 NM_003476.4(CSRP3): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs377066670 GRCh37 Chromosome 11, 19206570: 19206570
29 CSRP3 NM_003476.4(CSRP3): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs377066670 GRCh38 Chromosome 11, 19185023: 19185023
30 CSRP3 NM_003476.4(CSRP3): c.272A> T (p.Gln91Leu) single nucleotide variant Uncertain significance rs727504436 GRCh38 Chromosome 11, 19188145: 19188145
31 CSRP3 NM_003476.4(CSRP3): c.272A> T (p.Gln91Leu) single nucleotide variant Uncertain significance rs727504436 GRCh37 Chromosome 11, 19209692: 19209692
32 CSRP3 NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh37 Chromosome 11, 19213980: 19213980
33 CSRP3 NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh38 Chromosome 11, 19192433: 19192433
34 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh37 Chromosome 11, 19204266: 19204266
35 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh38 Chromosome 11, 19182719: 19182719
36 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh38 Chromosome 11, 19182711: 19182711
37 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh37 Chromosome 11, 19204258: 19204258
38 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh38 Chromosome 11, 19192363: 19192363
39 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh37 Chromosome 11, 19213910: 19213910
40 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh38 Chromosome 11, 19186293: 19186293
41 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh37 Chromosome 11, 19207840: 19207840
42 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh38 Chromosome 11, 19185011: 19185011
43 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh37 Chromosome 11, 19206558: 19206558
44 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh37 Chromosome 11, 19213981: 19213981
45 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh38 Chromosome 11, 19192434: 19192434
46 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh37 Chromosome 11, 19206555: 19206555
47 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh38 Chromosome 11, 19185008: 19185008
48 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh38 Chromosome 11, 19186278: 19186278
49 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh37 Chromosome 11, 19207825: 19207825
50 CSRP3 NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro) single nucleotide variant Uncertain significance rs760832923 GRCh38 Chromosome 11, 19188148: 19188148

Expression for Cardiomyopathy, Dilated, 1m

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

Pathways for Cardiomyopathy, Dilated, 1m

GO Terms for Cardiomyopathy, Dilated, 1m

Sources for Cardiomyopathy, Dilated, 1m

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