CMD1M
MCID: CRD114
MIFTS: 36

Cardiomyopathy, Dilated, 1m (CMD1M)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1m

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1m:

Name: Cardiomyopathy, Dilated, 1m 56 13 71
Dilated Cardiomyopathy 1m 12 29 6 15
Cmd1m 56 12 73
Cardiomyopathy, Dilated, Type 1m 39
Cardiomyopathy, Dilated 1m 73

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1m:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110449
OMIM 56 607482
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C1843808
UMLS 71 C1843808

Summaries for Cardiomyopathy, Dilated, 1m

UniProtKB/Swiss-Prot : 73 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, also known as dilated cardiomyopathy 1m, is related to cardiomyopathy, dilated, 1p and familial isolated restrictive cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1m is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Striated Muscle Contraction and N-cadherin signaling events. 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.

More information from OMIM: 607482 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1m

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1m via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1p 10.2 TMED2 PNPLA4 CDC42SE1
2 familial isolated restrictive cardiomyopathy 10.1 TNNI3 MYL2
3 familial isolated dilated cardiomyopathy 10.1 TNNI3 TCAP CSRP3
4 myasthenic syndrome, congenital, 20, presynaptic 9.9 TCAP MYL2
5 silent myocardial infarction 9.9 TNNI3 APOA1
6 restrictive cardiomyopathy 9.9 TNNI3 MYL2 CSRP3
7 lethal congenital contracture syndrome 4 9.8 TNNI3 TNNI2
8 cardiomyopathy, familial hypertrophic, 7 9.8 TNNI3 TMED2 PNPLA4 CSRP3 CDC42SE1
9 congenital fiber-type disproportion 9.8 TNNI2 MYL2 MYH2
10 intrinsic cardiomyopathy 9.8 TNNI3 TCAP MYL2 CSRP3
11 atrial standstill 1 9.8 TNNI3 TCAP MYL2 CSRP3
12 left ventricular noncompaction 9.7 TNNI3 TCAP MYL2 CSRP3
13 transverse myelitis 9.4 APOH APOA1

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1m:



Diseases related to Cardiomyopathy, Dilated, 1m

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1m

Human phenotypes related to Cardiomyopathy, Dilated, 1m:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644
2 endocardial fibroelastosis 31 HP:0001706
3 impaired myocardial contractility 31 HP:0006670

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 29 CSRP3

Anatomical Context for Cardiomyopathy, Dilated, 1m

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1m

Articles related to Cardiomyopathy, Dilated, 1m:

# Title Authors PMID Year
1
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. 56 6
18505755 2008
2
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 6 56
14567970 2003
3
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 56 6
12507422 2002
4
Dilated Cardiomyopathy Overview 6
20301486 2007
5
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 6
16352453 2006

Variations for Cardiomyopathy, Dilated, 1m

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

6 (show top 50) (show all 89) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSRP3 NM_003476.5(CSRP3):c.128del (p.Ala43fs)deletion Likely pathogenic 847161 11:19209836-19209836 11:19188289-19188289
2 CSRP3 NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)SNV Conflicting interpretations of pathogenicity 8776 rs45550635 11:19213986-19213986 11:19192439-19192439
3 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)SNV Conflicting interpretations of pathogenicity 8778 rs104894205 11:19209833-19209833 11:19188286-19188286
4 CSRP3 NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)SNV Conflicting interpretations of pathogenicity 35966 rs193922667 11:19207812-19207812 11:19186265-19186265
5 CSRP3 NM_003476.5(CSRP3):c.213C>T (p.Ile71=)SNV Conflicting interpretations of pathogenicity 44692 rs45476991 11:19209751-19209751 11:19188204-19188204
6 CSRP3 NM_003476.5(CSRP3):c.299G>A (p.Arg100His)SNV Conflicting interpretations of pathogenicity 44694 rs138218523 11:19207878-19207878 11:19186331-19186331
7 CSRP3 NM_003476.5(CSRP3):c.162G>A (p.Ser54=)SNV Conflicting interpretations of pathogenicity 137035 rs112848043 11:19209802-19209802 11:19188255-19188255
8 CSRP3 NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)SNV Conflicting interpretations of pathogenicity 163013 rs185980145 11:19213980-19213980 11:19192433-19192433
9 CSRP3 NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)SNV Conflicting interpretations of pathogenicity 163007 rs142019584 11:19204266-19204266 11:19182719-19182719
10 CSRP3 NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)SNV Conflicting interpretations of pathogenicity 219444 rs761507504 11:19206558-19206558 11:19185011-19185011
11 CSRP3 NM_003476.5(CSRP3):c.174C>T (p.Cys58=)SNV Conflicting interpretations of pathogenicity 381101 rs1057520959 11:19209790-19209790 11:19188243-19188243
12 CSRP3 NM_003476.5(CSRP3):c.112+1G>ASNV Uncertain significance 222534 rs746990436 11:19213883-19213883 11:19192336-19192336
13 CSRP3 NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)SNV Uncertain significance 228543 rs876657767 11:19207823-19207823 11:19186276-19186276
14 CSRP3 NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu)SNV Uncertain significance 239543 rs878854613 11:19206555-19206555 11:19185008-19185008
15 CSRP3 NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys)SNV Uncertain significance 239542 rs763096875 11:19207825-19207825 11:19186278-19186278
16 CSRP3 NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro)SNV Uncertain significance 239541 rs760832923 11:19209695-19209695 11:19188148-19188148
17 CSRP3 NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys)SNV Uncertain significance 239540 rs780917755 11:19209708-19209708 11:19188161-19188161
18 CSRP3 NM_003476.5(CSRP3):c.537G>A (p.Thr179=)SNV Uncertain significance 303951 rs886048096 11:19204265-19204265 11:19182718-19182718
19 CSRP3 NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)SNV Uncertain significance 303954 rs746707959 11:19207875-19207875 11:19186328-19186328
20 CSRP3 NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)SNV Uncertain significance 201695 rs111868331 11:19204258-19204258 11:19182711-19182711
21 CSRP3 NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)SNV Uncertain significance 201692 rs372717179 11:19213910-19213910 11:19192363-19192363
22 CSRP3 NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter)SNV Uncertain significance 216572 rs863224716 11:19207840-19207840 11:19186293-19186293
23 CSRP3 NM_003476.5(CSRP3):c.437G>A (p.Arg146His)SNV Uncertain significance 163009 rs377066670 11:19206570-19206570 11:19185023-19185023
24 CSRP3 NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)SNV Uncertain significance 178014 rs727504436 11:19209692-19209692 11:19188145-19188145
25 CSRP3 NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)SNV Uncertain significance 44697 rs149201422 11:19207798-19207798 11:19186251-19186251
26 CSRP3 NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)SNV Uncertain significance 44701 rs397516859 11:19204267-19204267 11:19182720-19182720
27 CSRP3 NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)SNV Uncertain significance 44687 rs145300736 11:19209816-19209816 11:19188269-19188269
28 CSRP3 NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser)SNV Uncertain significance 543039 rs749002955 11:19204270-19204270 11:19182723-19182723
29 CSRP3 NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln)SNV Uncertain significance 543037 rs777883490 11:19213956-19213956 11:19192409-19192409
30 CSRP3 NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)SNV Uncertain significance 8780 rs137852764 11:19209758-19209758 11:19188211-19188211
31 CSRP3 NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)SNV Uncertain significance 8781 rs137852765 11:19209828-19209828 11:19188281-19188281
32 CSRP3 NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser)SNV Uncertain significance 835944 11:19209837-19209837 11:19188290-19188290
33 CSRP3 NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)SNV Uncertain significance 859311 11:19213979-19213979 11:19192432-19192432
34 CSRP3 NM_003476.5(CSRP3):c.415-1G>ASNV Uncertain significance 834445 11:19206593-19206593 11:19185046-19185046
35 CSRP3 NC_000011.10:g.(?_19184942)_(19188314_?)deldeletion Uncertain significance 831881 11:19206489-19209861
36 CSRP3 NM_003476.5(CSRP3):c.518C>T (p.Ala173Val)SNV Uncertain significance 842508 11:19204284-19204284 11:19182737-19182737
37 CSRP3 NM_003476.5(CSRP3):c.514T>C (p.Tyr172His)SNV Uncertain significance 836572 11:19204288-19204288 11:19182741-19182741
38 CSRP3 NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs)short repeat Uncertain significance 855956 11:19206549-19206550 11:19185002-19185003
39 CSRP3 NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe)SNV Uncertain significance 846160 11:19206562-19206562 11:19185015-19185015
40 CSRP3 NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)SNV Uncertain significance 836666 11:19207808-19207808 11:19186261-19186261
41 CSRP3 NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)SNV Uncertain significance 851709 11:19207879-19207879 11:19186332-19186332
42 CSRP3 NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser)SNV Uncertain significance 858415 11:19207891-19207891 11:19186344-19186344
43 CSRP3 NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe)SNV Uncertain significance 863545 11:19207893-19207893 11:19186346-19186346
44 CSRP3 NM_003476.5(CSRP3):c.228C>T (p.Gly76=)SNV Uncertain significance 861575 11:19209736-19209736 11:19188189-19188189
45 CSRP3 NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr)SNV Uncertain significance 404174 rs45531937 11:19213974-19213974 11:19192427-19192427
46 CSRP3 NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu)SNV Uncertain significance 423356 rs769003538 11:19209789-19209789 11:19188242-19188242
47 CSRP3 NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)SNV Uncertain significance 426380 rs376198883 11:19206571-19206571 11:19185024-19185024
48 CSRP3 NM_003476.5(CSRP3):c.524dup (p.Asn175fs)duplication Uncertain significance 476576 rs1554967256 11:19204277-19204278 11:19182730-19182731
49 CSRP3 NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg)SNV Uncertain significance 476575 rs1554967431 11:19206546-19206546 11:19184999-19184999
50 CSRP3 NM_003476.5(CSRP3):c.251C>T (p.Thr84Met)SNV Uncertain significance 476571 rs777327517 11:19209713-19209713 11:19188166-19188166

Expression for Cardiomyopathy, Dilated, 1m

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

Pathways for Cardiomyopathy, Dilated, 1m

Pathways related to Cardiomyopathy, Dilated, 1m according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.78 TNNI3 TNNI2 TCAP MYL2
2 10.67 MYL2 GAP43
3 9.86 PLP1 GAP43

GO Terms for Cardiomyopathy, Dilated, 1m

Cellular components related to Cardiomyopathy, Dilated, 1m according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.71 SERPINB9 LRRC15 APOH APOA1
2 high-density lipoprotein particle GO:0034364 9.43 APOH APOA1
3 very-low-density lipoprotein particle GO:0034361 9.37 APOH APOA1
4 chylomicron GO:0042627 9.32 APOH APOA1
5 troponin complex GO:0005861 9.26 TNNI3 TNNI2
6 cardiac myofibril GO:0097512 9.16 TNNI3 MYL2
7 myofibril GO:0030016 9.13 TNNI3 MYL2 MYH2
8 sarcomere GO:0030017 9.02 TNNI3 TCAP MYL2 MYH2 CSRP3

Biological processes related to Cardiomyopathy, Dilated, 1m according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 TNNI3 TNNI2 MYH2
2 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.52 TNNI3 MYL2
3 regulation of the force of heart contraction GO:0002026 9.51 MYL2 CSRP3
4 regulation of muscle contraction GO:0006937 9.49 TNNI3 TNNI2
5 glial cell differentiation GO:0010001 9.48 PLP1 GAP43
6 heart contraction GO:0060047 9.43 TNNI3 MYL2
7 skeletal muscle contraction GO:0003009 9.43 TNNI3 TNNI2 TCAP
8 positive regulation of lipoprotein lipase activity GO:0051006 9.4 APOH APOA1
9 cardiac muscle hypertrophy GO:0003300 9.37 TCAP CSRP3
10 cardiac muscle contraction GO:0060048 9.35 TNNI3 TNNI2 TCAP MYL2 CSRP3
11 cardiac myofibril assembly GO:0055003 9.33 TCAP MYL2 CSRP3
12 detection of muscle stretch GO:0035995 9.32 TCAP CSRP3
13 muscle filament sliding GO:0030049 9.02 TNNI3 TNNI2 TCAP MYL2 MYH2

Molecular functions related to Cardiomyopathy, Dilated, 1m according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 TNNI3 TNNI2 MYH2 CSRP3
2 structural constituent of muscle GO:0008307 9.13 TCAP MYL2 CSRP3
3 troponin T binding GO:0031014 8.62 TNNI3 TNNI2

Sources for Cardiomyopathy, Dilated, 1m

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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