CMD1M
MCID: CRD114
MIFTS: 37

Cardiomyopathy, Dilated, 1m (CMD1M)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1m

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1m:

Name: Cardiomyopathy, Dilated, 1m 57 13 70
Dilated Cardiomyopathy 1m 12 29 6 15
Cmd1m 57 12 72
Cardiomyopathy, Dilated, Type 1m 39
Cardiomyopathy, Dilated 1m 72

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110449
OMIM® 57 607482
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1843808
UMLS 70 C1843808

Summaries for Cardiomyopathy, Dilated, 1m

UniProtKB/Swiss-Prot : 72 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 myopathy, myofibrillar, 4 and lethal congenital contracture syndrome 4. An important gene associated with Cardiomyopathy, Dilated, 1m is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. 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 16)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 10.2 TCAP CSRP3
2 lethal congenital contracture syndrome 4 10.1 TNNI3 TNNI2
3 cardiomyopathy, dilated, 1p 10.1 TMED2 PNPLA4 CDC42SE1
4 myopathy, myofibrillar, 9, with early respiratory failure 10.1 TCAP CSRP3
5 silent myocardial infarction 10.0 TNNI3 APOA1
6 restrictive cardiomyopathy 10.0 TNNI3 MYL2 CSRP3
7 atrial standstill 1 9.9 TNNI3 MYL2 CSRP3
8 angina pectoris 9.9 TNNI3 APOA1
9 congenital fiber-type disproportion 9.9 TNNI2 MYL2 MYH2
10 cardiomyopathy, familial hypertrophic, 7 9.8 TNNI3 TMED2 PNPLA4 CSRP3 CDC42SE1
11 intrinsic cardiomyopathy 9.8 TNNI3 TCAP MYL2 CSRP3
12 left ventricular noncompaction 9.8 TNNI3 TCAP MYL2 CSRP3
13 intermediate coronary syndrome 9.7 TNNI3 APOA1
14 transverse myelitis 9.7 APOH APOA1
15 pulmonary artery disease 9.7 TNNI3 APOH
16 cardiomyopathy, familial hypertrophic, 1 9.6 TNNI3 TCAP MYL2 MYH2 CSRP3

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 (Updated 20-May-2021)

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. 6 57
18505755 2008
2
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 6 57
14567970 2003
3
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. 6
30048712 2018
4
MLP and CARP are linked to chronic PKCĪ± signalling in dilated cardiomyopathy. 6
27353086 2016
5
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 6
25351510 2015
6
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
7
Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting. 6
21425739 2011
8
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 6
16352453 2006
9
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. 6
12642359 2003
10
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 57
12507422 2002

Variations for Cardiomyopathy, Dilated, 1m

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

6 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CSRP3 NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) SNV Pathogenic 8780 rs137852764 GRCh37: 11:19209758-19209758
GRCh38: 11:19188211-19188211
2 CSRP3 NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) SNV Pathogenic 8778 rs104894205 GRCh37: 11:19209833-19209833
GRCh38: 11:19188286-19188286
3 CSRP3 NM_003476.5(CSRP3):c.128del (p.Ala43fs) Deletion Likely pathogenic 847161 GRCh37: 11:19209836-19209836
GRCh38: 11:19188289-19188289
4 CSRP3 NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) SNV Likely pathogenic 219444 rs761507504 GRCh37: 11:19206558-19206558
GRCh38: 11:19185011-19185011
5 CSRP3 NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) SNV Uncertain significance 934985 GRCh37: 11:19209815-19209815
GRCh38: 11:19188268-19188268
6 CSRP3 NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) SNV Uncertain significance 944590 GRCh37: 11:19209796-19209796
GRCh38: 11:19188249-19188249
7 CSRP3 NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) SNV Uncertain significance 950593 GRCh37: 11:19207768-19207768
GRCh38: 11:19186221-19186221
8 CSRP3 NM_003476.5(CSRP3):c.93C>G (p.His31Gln) SNV Uncertain significance 217825 rs863225265 GRCh37: 11:19213903-19213903
GRCh38: 11:19192356-19192356
9 CSRP3 NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) SNV Uncertain significance 958665 GRCh37: 11:19209699-19209699
GRCh38: 11:19188152-19188152
10 CSRP3 NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) SNV Uncertain significance 960236 GRCh37: 11:19209815-19209815
GRCh38: 11:19188268-19188268
11 CSRP3 NM_003476.5(CSRP3):c.285C>A (p.Ser95=) SNV Uncertain significance 962276 GRCh37: 11:19207892-19207892
GRCh38: 11:19186345-19186345
12 CSRP3 NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) SNV Uncertain significance 963688 GRCh37: 11:19207866-19207866
GRCh38: 11:19186319-19186319
13 CSRP3 NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) SNV Uncertain significance 963816 GRCh37: 11:19206548-19206548
GRCh38: 11:19185001-19185001
14 CSRP3 NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) SNV Uncertain significance 968411 GRCh37: 11:19209848-19209848
GRCh38: 11:19188301-19188301
15 CSRP3 NM_003476.5(CSRP3):c.562_564CAA[1] (p.Gln189del) Microsatellite Uncertain significance 451189 rs1173035411 GRCh37: 11:19204235-19204237
GRCh38: 11:19182688-19182690
16 CSRP3 NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser) SNV Uncertain significance 1005786 GRCh37: 11:19209813-19209813
GRCh38: 11:19188266-19188266
17 CSRP3 NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter) SNV Uncertain significance 1008253 GRCh37: 11:19207800-19207800
GRCh38: 11:19186253-19186253
18 CSRP3 NM_003476.5(CSRP3):c.49_55del (p.Val17fs) Deletion Uncertain significance 1009234 GRCh37: 11:19213941-19213947
GRCh38: 11:19192394-19192400
19 CSRP3 NM_003476.5(CSRP3):c.72del (p.Gln24fs) Deletion Uncertain significance 1011003 GRCh37: 11:19213924-19213924
GRCh38: 11:19192377-19192377
20 CSRP3 NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) SNV Uncertain significance 915721 GRCh37: 11:19213885-19213885
GRCh38: 11:19192338-19192338
21 CSRP3 NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) SNV Uncertain significance 201694 rs746207 GRCh37: 11:19209735-19209735
GRCh38: 11:19188188-19188188
22 CSRP3 NM_003476.5(CSRP3):c.143C>T (p.Thr48Ile) SNV Uncertain significance 1038977 GRCh37: 11:19209821-19209821
GRCh38: 11:19188274-19188274
23 CSRP3 NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) SNV Uncertain significance 163012 rs367827746 GRCh37: 11:19209699-19209699
GRCh38: 11:19188152-19188152
24 CSRP3 NM_003476.5(CSRP3):c.332C>G (p.Thr111Ser) SNV Uncertain significance 1045403 GRCh37: 11:19207845-19207845
GRCh38: 11:19186298-19186298
25 CSRP3 NM_003476.5(CSRP3):c.196T>A (p.Tyr66Asn) SNV Uncertain significance 1045551 GRCh37: 11:19209768-19209768
GRCh38: 11:19188221-19188221
26 CSRP3 NM_003476.5(CSRP3):c.300C>G (p.Arg100=) SNV Uncertain significance 1047451 GRCh37: 11:19207877-19207877
GRCh38: 11:19186330-19186330
27 CSRP3 NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) SNV Uncertain significance 44685 rs397516851 GRCh37: 11:19209824-19209824
GRCh38: 11:19188277-19188277
28 CSRP3 NM_003476.5(CSRP3):c.229G>A (p.Ala77Thr) SNV Uncertain significance 1055034 GRCh37: 11:19209735-19209735
GRCh38: 11:19188188-19188188
29 CSRP3 NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg) SNV Uncertain significance 1055352 GRCh37: 11:19209750-19209750
GRCh38: 11:19188203-19188203
30 CSRP3 NM_003476.5(CSRP3):c.335C>T (p.Ala112Val) SNV Uncertain significance 1058043 GRCh37: 11:19207842-19207842
GRCh38: 11:19186295-19186295
31 CSRP3 NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg) SNV Uncertain significance 1062510 GRCh37: 11:19207819-19207819
GRCh38: 11:19186272-19186272
32 CSRP3 NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) SNV Uncertain significance 8776 rs45550635 GRCh37: 11:19213986-19213986
GRCh38: 11:19192439-19192439
33 CSRP3 NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) SNV Uncertain significance 851709 GRCh37: 11:19207879-19207879
GRCh38: 11:19186332-19186332
34 CSRP3 NM_003476.5(CSRP3):c.174C>T (p.Cys58=) SNV Uncertain significance 381101 rs1057520959 GRCh37: 11:19209790-19209790
GRCh38: 11:19188243-19188243
35 CSRP3 NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs) Microsatellite Uncertain significance 855956 GRCh37: 11:19206549-19206550
GRCh38: 11:19185002-19185003
36 CSRP3 NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) SNV Uncertain significance 858415 GRCh37: 11:19207891-19207891
GRCh38: 11:19186344-19186344
37 CSRP3 NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) SNV Uncertain significance 859311 GRCh37: 11:19213979-19213979
GRCh38: 11:19192432-19192432
38 CSRP3 NM_003476.5(CSRP3):c.228C>T (p.Gly76=) SNV Uncertain significance 861575 GRCh37: 11:19209736-19209736
GRCh38: 11:19188189-19188189
39 CSRP3 NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) SNV Uncertain significance 863545 GRCh37: 11:19207893-19207893
GRCh38: 11:19186346-19186346
40 CSRP3 NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) SNV Uncertain significance 426380 rs376198883 GRCh37: 11:19206571-19206571
GRCh38: 11:19185024-19185024
41 CSRP3 NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg) SNV Uncertain significance 476575 rs1554967431 GRCh37: 11:19206546-19206546
GRCh38: 11:19184999-19184999
42 CSRP3 NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) SNV Uncertain significance 201695 rs111868331 GRCh37: 11:19204258-19204258
GRCh38: 11:19182711-19182711
43 CSRP3 NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) SNV Uncertain significance 476570 rs772138289 GRCh37: 11:19209734-19209734
GRCh38: 11:19188187-19188187
44 CSRP3 NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) SNV Uncertain significance 8781 rs137852765 GRCh37: 11:19209828-19209828
GRCh38: 11:19188281-19188281
45 CSRP3 NM_003476.5(CSRP3):c.524dup (p.Asn175fs) Duplication Uncertain significance 476576 rs1554967256 GRCh37: 11:19204277-19204278
GRCh38: 11:19182730-19182731
46 CSRP3 NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr) SNV Uncertain significance 476572 rs1352827887 GRCh37: 11:19213970-19213970
GRCh38: 11:19192423-19192423
47 CSRP3 NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) SNV Uncertain significance 404174 rs45531937 GRCh37: 11:19213974-19213974
GRCh38: 11:19192427-19192427
48 CSRP3 NC_000011.10:g.(?_19184942)_(19188314_?)del Deletion Uncertain significance 831881 GRCh37: 11:19206489-19209861
GRCh38:
49 CSRP3 NM_003476.5(CSRP3):c.415-1G>A SNV Uncertain significance 834445 GRCh37: 11:19206593-19206593
GRCh38: 11:19185046-19185046
50 CSRP3 NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) SNV Uncertain significance 835944 GRCh37: 11:19209837-19209837
GRCh38: 11:19188290-19188290

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

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

# Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle GO:0034364 9.4 APOH APOA1
2 very-low-density lipoprotein particle GO:0034361 9.37 APOH APOA1
3 chylomicron GO:0042627 9.32 APOH APOA1
4 troponin complex GO:0005861 9.26 TNNI3 TNNI2
5 cardiac myofibril GO:0097512 9.16 TNNI3 MYL2
6 myofibril GO:0030016 9.13 TNNI3 MYL2 MYH2
7 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 14)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 TNNI3 TNNI2 MYH2
2 sarcomere organization GO:0045214 9.54 TCAP CSRP3
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.52 TNNI3 MYL2
4 regulation of the force of heart contraction GO:0002026 9.51 MYL2 CSRP3
5 regulation of muscle contraction GO:0006937 9.49 TNNI3 TNNI2
6 glial cell differentiation GO:0010001 9.48 PLP1 GAP43
7 heart contraction GO:0060047 9.46 TNNI3 MYL2
8 skeletal muscle contraction GO:0003009 9.43 TNNI3 TNNI2 TCAP
9 cardiac muscle hypertrophy GO:0003300 9.4 TCAP CSRP3
10 positive regulation of lipoprotein lipase activity GO:0051006 9.37 APOH APOA1
11 cardiac myofibril assembly GO:0055003 9.33 TCAP MYL2 CSRP3
12 detection of muscle stretch GO:0035995 9.32 TCAP CSRP3
13 cardiac muscle contraction GO:0060048 9.26 TNNI3 TNNI2 TCAP CSRP3
14 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 troponin T binding GO:0031014 8.96 TNNI3 TNNI2
3 structural constituent of muscle GO:0008307 8.8 TCAP MYL2 CSRP3

Sources for Cardiomyopathy, Dilated, 1m

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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