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CMD1M
MCID: CRD114
MIFTS: 19

Cardiomyopathy, Dilated, 1m (CMD1M)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Cardiomyopathy, Dilated, 1m

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Neuronal diseases Ear diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0110449
OMIM 58 607482
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1843808
UMLS 74 C1843808
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Summaries for Cardiomyopathy, Dilated, 1m

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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
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Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1m

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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
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Drugs & Therapeutics for Cardiomyopathy, Dilated, 1m

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

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Genetic Tests for Cardiomyopathy, Dilated, 1m

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Genetic tests related to Cardiomyopathy, Dilated, 1m:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1m 30 CSRP3
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Anatomical Context for Cardiomyopathy, Dilated, 1m

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

42
Heart
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Publications for Cardiomyopathy, Dilated, 1m

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Variations for Cardiomyopathy, Dilated, 1m

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

6 (show top 50) (show all 119)
# 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.10T> C (p.Trp4Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs45550635 GRCh37 Chromosome 11, 19213986: 19213986
18 CSRP3 NM_003476.4(CSRP3): c.10T> C (p.Trp4Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs45550635 GRCh38 Chromosome 11, 19192439: 19192439
19 CSRP3 NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894205 GRCh37 Chromosome 11, 19209833: 19209833
20 CSRP3 NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs104894205 GRCh38 Chromosome 11, 19188286: 19188286
21 CSRP3 NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg) single nucleotide variant Uncertain significance rs137852764 GRCh37 Chromosome 11, 19209758: 19209758
22 CSRP3 NM_003476.4(CSRP3): c.206A> G (p.Lys69Arg) single nucleotide variant Uncertain significance rs137852764 GRCh38 Chromosome 11, 19188211: 19188211
23 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh37 Chromosome 11, 19209828: 19209828
24 CSRP3 NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs137852765 GRCh38 Chromosome 11, 19188281: 19188281
25 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh37 Chromosome 11, 19207812: 19207812
26 CSRP3 NM_003476.4(CSRP3): c.365G> A (p.Arg122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922667 GRCh38 Chromosome 11, 19186265: 19186265
27 CSRP3 NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr) single nucleotide variant Uncertain significance rs145300736 GRCh37 Chromosome 11, 19209816: 19209816
28 CSRP3 NM_003476.4(CSRP3): c.148G> A (p.Ala50Thr) single nucleotide variant Uncertain significance rs145300736 GRCh38 Chromosome 11, 19188269: 19188269
29 CSRP3 NM_003476.4(CSRP3): c.150G> A (p.Ala50=) single nucleotide variant Benign/Likely benign rs7124801 GRCh37 Chromosome 11, 19209814: 19209814
30 CSRP3 NM_003476.4(CSRP3): c.150G> A (p.Ala50=) single nucleotide variant Benign/Likely benign rs7124801 GRCh38 Chromosome 11, 19188267: 19188267
31 CSRP3 NM_003476.4(CSRP3): c.213C> T (p.Ile71=) single nucleotide variant Conflicting interpretations of pathogenicity rs45476991 GRCh37 Chromosome 11, 19209751: 19209751
32 CSRP3 NM_003476.4(CSRP3): c.213C> T (p.Ile71=) single nucleotide variant Conflicting interpretations of pathogenicity rs45476991 GRCh38 Chromosome 11, 19188204: 19188204
33 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 GRCh37 Chromosome 11, 19207878: 19207878
34 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 GRCh38 Chromosome 11, 19186331: 19186331
35 CSRP3 NM_003476.4(CSRP3): c.299G> A (p.Arg100His) single nucleotide variant Conflicting interpretations of pathogenicity rs138218523 NCBI36 Chromosome 11, 19164454: 19164454
36 CSRP3 NM_003476.4(CSRP3): c.312C> G (p.Thr104=) single nucleotide variant Benign/Likely benign rs45582433 GRCh37 Chromosome 11, 19207865: 19207865
37 CSRP3 NM_003476.4(CSRP3): c.312C> G (p.Thr104=) single nucleotide variant Benign/Likely benign rs45582433 GRCh38 Chromosome 11, 19186318: 19186318
38 CSRP3 NM_003476.4(CSRP3): c.379G> A (p.Val127Ile) single nucleotide variant Uncertain significance rs149201422 GRCh37 Chromosome 11, 19207798: 19207798
39 CSRP3 NM_003476.4(CSRP3): c.379G> A (p.Val127Ile) single nucleotide variant Uncertain significance rs149201422 GRCh38 Chromosome 11, 19186251: 19186251
40 CSRP3 NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala) single nucleotide variant Uncertain significance rs397516859 GRCh37 Chromosome 11, 19204267: 19204267
41 CSRP3 NM_003476.4(CSRP3): c.535A> G (p.Thr179Ala) single nucleotide variant Uncertain significance rs397516859 GRCh38 Chromosome 11, 19182720: 19182720
42 CSRP3 NM_003476.4(CSRP3): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs112848043 GRCh38 Chromosome 11, 19188255: 19188255
43 CSRP3 NM_003476.4(CSRP3): c.162G> A (p.Ser54=) single nucleotide variant Benign/Likely benign rs112848043 GRCh37 Chromosome 11, 19209802: 19209802
44 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh37 Chromosome 11, 19206555: 19206555
45 CSRP3 NM_003476.4(CSRP3): c.452G> A (p.Gly151Glu) single nucleotide variant Uncertain significance rs878854613 GRCh38 Chromosome 11, 19185008: 19185008
46 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh38 Chromosome 11, 19186278: 19186278
47 CSRP3 NM_003476.4(CSRP3): c.352G> A (p.Glu118Lys) single nucleotide variant Uncertain significance rs763096875 GRCh37 Chromosome 11, 19207825: 19207825
48 CSRP3 NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro) single nucleotide variant Uncertain significance rs760832923 GRCh38 Chromosome 11, 19188148: 19188148
49 CSRP3 NM_003476.4(CSRP3): c.269T> C (p.Leu90Pro) single nucleotide variant Uncertain significance rs760832923 GRCh37 Chromosome 11, 19209695: 19209695
50 CSRP3 NM_003476.4(CSRP3): c.256G> A (p.Glu86Lys) single nucleotide variant Uncertain significance rs780917755 GRCh38 Chromosome 11, 19188161: 19188161
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Expression for Cardiomyopathy, Dilated, 1m

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

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GO Terms for Cardiomyopathy, Dilated, 1m

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Sources for Cardiomyopathy, Dilated, 1m

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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