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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Immune diseases Neuronal diseases Ear diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 607482
Disease Ontology 12 DOID:0110449
ICD10 33 I42.0
MedGen 42 C1843808
MeSH 44 D002311
UMLS 73 C1843808
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Summaries for Cardiomyopathy, Dilated, 1m

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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 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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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 impaired myocardial contractility 32 HP:0006670
3 endocardial fibroelastosis 32 HP:0001706
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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 29 CSRP3
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Anatomical Context for Cardiomyopathy, Dilated, 1m

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

41
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.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.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh37 Chromosome 11, 19213980: 19213980
31 CSRP3 NM_003476.4(CSRP3): c.16G> A (p.Gly6Arg) single nucleotide variant Uncertain significance rs185980145 GRCh38 Chromosome 11, 19192433: 19192433
32 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh37 Chromosome 11, 19204266: 19204266
33 CSRP3 NM_003476.4(CSRP3): c.536C> T (p.Thr179Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142019584 GRCh38 Chromosome 11, 19182719: 19182719
34 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh38 Chromosome 11, 19182711: 19182711
35 CSRP3 NM_003476.4(CSRP3): c.544G> C (p.Gly182Arg) single nucleotide variant Uncertain significance rs111868331 GRCh37 Chromosome 11, 19204258: 19204258
36 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh38 Chromosome 11, 19192363: 19192363
37 CSRP3 NM_003476.4(CSRP3): c.86G> A (p.Ser29Asn) single nucleotide variant Uncertain significance rs372717179 GRCh37 Chromosome 11, 19213910: 19213910
38 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh38 Chromosome 11, 19186293: 19186293
39 CSRP3 NM_003476.4(CSRP3): c.337A> T (p.Lys113Ter) single nucleotide variant Uncertain significance rs863224716 GRCh37 Chromosome 11, 19207840: 19207840
40 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh38 Chromosome 11, 19185011: 19185011
41 CSRP3 NM_003476.4(CSRP3): c.449G> A (p.Cys150Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs761507504 GRCh37 Chromosome 11, 19206558: 19206558
42 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh37 Chromosome 11, 19213981: 19213981
43 CSRP3 NM_003476.4(CSRP3): c.15C> A (p.Gly5=) single nucleotide variant Likely benign rs747959696 GRCh38 Chromosome 11, 19192434: 19192434
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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