MCID: CRD114
MIFTS: 19

Cardiomyopathy, Dilated, 1m

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1m

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1m:

Name: Cardiomyopathy, Dilated, 1m 57 13 73
Dilated Cardiomyopathy 1m 12 29 6
Cmd1m 57 12 75
Cardiomyopathy, Dilated, Type 1m 40
Cardiomyopathy, Dilated 1m 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 607482
Disease Ontology 12 DOID:0110449
ICD10 33 I42.0
MedGen 42 C1843808
MeSH 44 D002311
UMLS 73 C1843808

Summaries for Cardiomyopathy, Dilated, 1m

UniProtKB/Swiss-Prot : 75 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 endocardial fibroelastosis

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

Clinical features from OMIM:

607482

Human phenotypes related to Cardiomyopathy, Dilated, 1m:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 endocardial fibroelastosis 32 HP:0001706
3 impaired myocardial contractility 32 HP:0006670

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 29 CSRP3

Anatomical Context for Cardiomyopathy, Dilated, 1m

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1m

Variations for Cardiomyopathy, Dilated, 1m

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

6
(show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSRP3 NM_003476.4(CSRP3): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs377066670 GRCh37 Chromosome 11, 19206570: 19206570
2 CSRP3 NM_003476.4(CSRP3): c.437G> A (p.Arg146His) single nucleotide variant Uncertain significance rs377066670 GRCh38 Chromosome 11, 19185023: 19185023
3 CSRP3 NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh37 Chromosome 11, 19213980: 19213980
4 CSRP3 NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh38 Chromosome 11, 19192433: 19192433
5 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh37 Chromosome 11, 19204266: 19204266
6 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh38 Chromosome 11, 19182719: 19182719
7 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh38 Chromosome 11, 19182711: 19182711
8 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh37 Chromosome 11, 19204258: 19204258
9 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh38 Chromosome 11, 19192363: 19192363
10 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh37 Chromosome 11, 19213910: 19213910
11 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh38 Chromosome 11, 19186293: 19186293
12 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh37 Chromosome 11, 19207840: 19207840
13 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh38 Chromosome 11, 19185011: 19185011
14 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh37 Chromosome 11, 19206558: 19206558
15 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh37 Chromosome 11, 19213981: 19213981
16 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh38 Chromosome 11, 19192434: 19192434
17 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh37 Chromosome 11, 19206555: 19206555
18 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh38 Chromosome 11, 19185008: 19185008
19 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh38 Chromosome 11, 19186278: 19186278
20 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh37 Chromosome 11, 19207825: 19207825
21 CSRP3 NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro) single nucleotide variant Uncertain significance rs760832923 GRCh38 Chromosome 11, 19188148: 19188148
22 CSRP3 NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro) single nucleotide variant Uncertain significance rs760832923 GRCh37 Chromosome 11, 19209695: 19209695
23 CSRP3 NM_003476.4(CSRP3): c.256G> A (p.Glu86Lys) single nucleotide variant Uncertain significance rs780917755 GRCh38 Chromosome 11, 19188161: 19188161
24 CSRP3 NM_003476.4(CSRP3): c.256G> A (p.Glu86Lys) single nucleotide variant Uncertain significance rs780917755 GRCh37 Chromosome 11, 19209708: 19209708
25 CSRP3 NM_003476.4(CSRP3): c.537G> A (p.Thr179=) single nucleotide variant Uncertain significance rs886048096 GRCh37 Chromosome 11, 19204265: 19204265
26 CSRP3 NM_003476.4(CSRP3): c.537G> A (p.Thr179=) single nucleotide variant Uncertain significance rs886048096 GRCh38 Chromosome 11, 19182718: 19182718
27 CSRP3 NM_003476.4(CSRP3): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs755614464 GRCh37 Chromosome 11, 19209712: 19209712
28 CSRP3 NM_003476.4(CSRP3): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs755614464 GRCh38 Chromosome 11, 19188165: 19188165
29 CSRP3 NM_003476.4(CSRP3): c.294G> A (p.Pro98=) single nucleotide variant Likely benign rs142832902 GRCh37 Chromosome 11, 19207883: 19207883
30 CSRP3 NM_003476.4(CSRP3): c.294G> A (p.Pro98=) single nucleotide variant Likely benign rs142832902 GRCh38 Chromosome 11, 19186336: 19186336
31 CSRP3 NM_003476.4(CSRP3): c.201C> A (p.Gly67=) single nucleotide variant Likely benign rs557643642 GRCh37 Chromosome 11, 19209763: 19209763
32 CSRP3 NM_003476.4(CSRP3): c.201C> A (p.Gly67=) single nucleotide variant Likely benign rs557643642 GRCh38 Chromosome 11, 19188216: 19188216
33 CSRP3 NM_003476.4(CSRP3): c.50T> A (p.Val17Asp) single nucleotide variant Uncertain significance rs1060500131 GRCh37 Chromosome 11, 19213946: 19213946
34 CSRP3 NM_003476.4(CSRP3): c.50T> A (p.Val17Asp) single nucleotide variant Uncertain significance rs1060500131 GRCh38 Chromosome 11, 19192399: 19192399
35 CSRP3 NM_003476.4(CSRP3): c.48C> T (p.Thr16=) single nucleotide variant Likely benign rs753120437 GRCh37 Chromosome 11, 19213948: 19213948
36 CSRP3 NM_003476.4(CSRP3): c.48C> T (p.Thr16=) single nucleotide variant Likely benign rs753120437 GRCh38 Chromosome 11, 19192401: 19192401
37 CSRP3 NM_003476.4(CSRP3): c.264C> T (p.Leu88=) single nucleotide variant Likely benign rs758256351 GRCh38 Chromosome 11, 19188153: 19188153
38 CSRP3 NM_003476.4(CSRP3): c.264C> T (p.Leu88=) single nucleotide variant Likely benign rs758256351 GRCh37 Chromosome 11, 19209700: 19209700
39 CSRP3 NM_003476.4(CSRP3): c.22G> A (p.Ala8Thr) single nucleotide variant Uncertain significance rs45531937 GRCh38 Chromosome 11, 19192427: 19192427
40 CSRP3 NM_003476.4(CSRP3): c.22G> A (p.Ala8Thr) single nucleotide variant Uncertain significance rs45531937 GRCh37 Chromosome 11, 19213974: 19213974
41 CSRP3 NM_003476.4(CSRP3): c.175A> G (p.Lys59Glu) single nucleotide variant Uncertain significance rs769003538 GRCh38 Chromosome 11, 19188242: 19188242
42 CSRP3 NM_003476.4(CSRP3): c.175A> G (p.Lys59Glu) single nucleotide variant Uncertain significance rs769003538 GRCh37 Chromosome 11, 19209789: 19209789
43 CSRP3 NM_003476.4(CSRP3): c.524dup (p.Asn175Lysfs) duplication Uncertain significance GRCh38 Chromosome 11, 19182731: 19182731
44 CSRP3 NM_003476.4(CSRP3): c.524dup (p.Asn175Lysfs) duplication Uncertain significance GRCh37 Chromosome 11, 19204278: 19204278
45 CSRP3 NM_003476.4(CSRP3): c.461T> G (p.Leu154Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 19184999: 19184999
46 CSRP3 NM_003476.4(CSRP3): c.461T> G (p.Leu154Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 19206546: 19206546
47 CSRP3 NM_003476.4(CSRP3): c.300C> T (p.Arg100=) single nucleotide variant Likely benign rs146290726 GRCh37 Chromosome 11, 19207877: 19207877
48 CSRP3 NM_003476.4(CSRP3): c.300C> T (p.Arg100=) single nucleotide variant Likely benign rs146290726 GRCh38 Chromosome 11, 19186330: 19186330
49 CSRP3 NM_003476.4(CSRP3): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs777327517 GRCh38 Chromosome 11, 19188166: 19188166
50 CSRP3 NM_003476.4(CSRP3): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs777327517 GRCh37 Chromosome 11, 19209713: 19209713

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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