CMD1R
MCID: CRD107
MIFTS: 33

Cardiomyopathy, Dilated, 1r (CMD1R)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 57 13 70
Left Ventricular Noncompaction 4 57 29 6 70
Dilated Cardiomyopathy 1r 12 29 6
Cmd1r 57 12 72
Cardiomyopathy, Dilated, Type 1r 39
Cardiomyopathy, Dilated 1r 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110456
OMIM® 57 613424
OMIM Phenotypic Series 57 PS115200 PS604169
MeSH 44 D002311
ICD10 32 I42.0
UMLS 70 C3150681 C3150682

Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1R: 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, 1r, also known as left ventricular noncompaction 4, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, familial hypertrophic, 11. An important gene associated with Cardiomyopathy, Dilated, 1r is ACTC1 (Actin Alpha Cardiac Muscle 1). Affiliated tissues include heart, and related phenotypes are left ventricular hypertrophy and restrictive cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the ACTC1 gene on chromosome 15q14.

More information from OMIM: 613424 PS115200 PS604169

Related Diseases for Cardiomyopathy, Dilated, 1r

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, 1r via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 9.8 LOC101928174 ACTC1
2 cardiomyopathy, familial hypertrophic, 11 9.8 LOC101928174 ACTC1
3 atrial septal defect 5 9.8 LOC101928174 ACTC1
4 interatrial communication 9.7 LOC101928174 ACTC1
5 wolff-parkinson-white syndrome 9.7 LOC101928174 ACTC1
6 restrictive cardiomyopathy 9.7 LOC101928174 ACTC1
7 atrial standstill 1 9.7 LOC101928174 ACTC1
8 left ventricular noncompaction 9.7 LOC101928174 ACTC1
9 hypertrophic cardiomyopathy 9.6 LOC101928174 ACTC1
10 dilated cardiomyopathy 9.6 LOC101928174 ACTC1
11 familial isolated dilated cardiomyopathy 9.5 LOC101928174 ACTC1

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



Diseases related to Cardiomyopathy, Dilated, 1r

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1r

Human phenotypes related to Cardiomyopathy, Dilated, 1r:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 restrictive cardiomyopathy 31 occasional (7.5%) HP:0001723
3 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
4 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
5 congestive heart failure 31 HP:0001635
6 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
congestive heart failure
left ventricular hypertrophy (in some patients)
left ventricular noncompaction (in some patients)
left ventricular dilation
ventricular arrhythmia (in some patients)
more

Clinical features from OMIM®:

613424 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1r

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

Genetic Tests for Cardiomyopathy, Dilated, 1r

Genetic tests related to Cardiomyopathy, Dilated, 1r:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1r 29 ACTC1
2 Left Ventricular Noncompaction 4 29

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1r

Articles related to Cardiomyopathy, Dilated, 1r:

(show all 18)
# Title Authors PMID Year
1
Mutations in sarcomere protein genes in left ventricular noncompaction. 6 57
18506004 2008
2
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6 57
17611253 2007
3
Gene mutations in apical hypertrophic cardiomyopathy. 6 57
16267253 2005
4
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 57 6
9563954 1998
5
A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. 6
31434612 2019
6
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. 6
31430208 2019
7
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 6
30600190 2019
8
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
9
Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P. 6
24793351 2014
10
Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 6
24736382 2014
11
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
12
Subdomain location of mutations in cardiac actin correlate with type of functional change. 6
22590617 2012
13
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 6
21622575 2011
14
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 6
19799913 2010
15
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 6
16611632 2006
16
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
17
Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. 57
10494087 1999
18
Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy. 57
10528865 1999

Variations for Cardiomyopathy, Dilated, 1r

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

6 (show top 50) (show all 203)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) SNV Pathogenic 18324 rs121912674 GRCh37: 15:35082659-35082659
GRCh38: 15:34790458-34790458
2 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
3 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) SNV Pathogenic 217889 rs863225303 GRCh37: 15:35083411-35083411
GRCh38: 15:34791210-34791210
4 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
5 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) SNV Pathogenic 177917 rs727504399 GRCh37: 15:35086934-35086934
GRCh38: 15:34794733-34794733
6 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) SNV Pathogenic 626827 rs1566967399 GRCh37: 15:35084359-35084359
GRCh38: 15:34792158-34792158
7 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
8 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.635G>A (p.Arg212His) SNV Likely pathogenic 45186 rs397517067 GRCh37: 15:35084464-35084464
GRCh38: 15:34792263-34792263
9 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.941G>A (p.Arg314His) SNV Likely pathogenic 18323 rs121912673 GRCh37: 15:35083364-35083364
GRCh38: 15:34791163-34791163
10 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.941G>A (p.Arg314His) SNV Likely pathogenic 18323 rs121912673 GRCh37: 15:35083364-35083364
GRCh38: 15:34791163-34791163
11 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) SNV Uncertain significance 538809 rs1555418679 GRCh37: 15:35083332-35083332
GRCh38: 15:34791131-34791131
12 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) SNV Uncertain significance 538811 rs1247069535 GRCh37: 15:35085446-35085446
GRCh38: 15:34793245-34793245
13 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.507G>A (p.Glu169=) SNV Uncertain significance 538812 rs1555418837 GRCh37: 15:35084718-35084718
GRCh38: 15:34792517-34792517
14 ACTC1 , LOC101928174 NC_000015.9:g.(?_35082593)_(35087029_?)dup Duplication Uncertain significance 538814 GRCh37: 15:35082593-35087029
GRCh38: 15:34790392-34794828
15 ACTC1 NC_000015.10:g.(?_34788628)_(34794818_?)dup Duplication Uncertain significance 833183 GRCh37: 15:35080829-35087019
GRCh38:
16 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln) SNV Uncertain significance 838163 GRCh37: 15:35086909-35086909
GRCh38: 15:34794708-34794708
17 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.332del (p.Pro111fs) Deletion Uncertain significance 855035 GRCh37: 15:35085568-35085568
GRCh38: 15:34793367-34793367
18 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp) SNV Uncertain significance 864416 GRCh37: 15:35083394-35083394
GRCh38: 15:34791193-34791193
19 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg) SNV Uncertain significance 565936 rs1566967406 GRCh37: 15:35084376-35084376
GRCh38: 15:34792175-34792175
20 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.524A>C (p.His175Pro) SNV Uncertain significance 566055 rs1566967487 GRCh37: 15:35084701-35084701
GRCh38: 15:34792500-34792500
21 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) SNV Uncertain significance 570215 rs1566967697 GRCh37: 15:35085503-35085503
GRCh38: 15:34793302-34793302
22 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.309C>A (p.His103Gln) SNV Uncertain significance 377435 rs769303249 GRCh37: 15:35085591-35085591
GRCh38: 15:34793390-34793390
23 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala) SNV Uncertain significance 642074 rs1595761987 GRCh37: 15:35086907-35086907
GRCh38: 15:34794706-34794706
24 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe) SNV Uncertain significance 642187 rs1595760777 GRCh37: 15:35084392-35084392
GRCh38: 15:34792191-34792191
25 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs) Indel Uncertain significance 644014 rs1595760229 GRCh37: 15:35083370-35083371
GRCh38: 15:34791169-34791170
26 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser) SNV Uncertain significance 652297 rs1595761325 GRCh37: 15:35085511-35085511
GRCh38: 15:34793310-34793310
27 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) SNV Uncertain significance 652722 rs1595760799 GRCh37: 15:35084412-35084412
GRCh38: 15:34792211-34792211
28 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup) Duplication Uncertain significance 652872 rs1595760207 GRCh37: 15:35083345-35083346
GRCh38: 15:34791144-34791145
29 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) SNV Uncertain significance 653219 rs1595761344 GRCh37: 15:35085526-35085526
GRCh38: 15:34793325-34793325
30 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu) SNV Uncertain significance 656273 rs1595759946 GRCh37: 15:35082666-35082666
GRCh38: 15:34790465-34790465
31 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) SNV Uncertain significance 180763 rs730880398 GRCh37: 15:35084344-35084344
GRCh38: 15:34792143-34792143
32 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) SNV Uncertain significance 658563 rs1595760259 GRCh37: 15:35083413-35083413
GRCh38: 15:34791212-34791212
33 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.375G>C (p.Met125Ile) SNV Uncertain significance 659534 rs1595761338 GRCh37: 15:35085525-35085525
GRCh38: 15:34793324-34793324
34 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) SNV Uncertain significance 180771 rs730880404 GRCh37: 15:35083337-35083337
GRCh38: 15:34791136-34791136
35 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.10G>C (p.Asp4His) SNV Uncertain significance 180775 rs730880408 GRCh37: 15:35087000-35087000
GRCh38: 15:34794799-34794799
36 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) SNV Uncertain significance 180769 rs730880402 GRCh37: 15:35083419-35083419
GRCh38: 15:34791218-34791218
37 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.455-4del Deletion Uncertain significance 665229 rs1178667520 GRCh37: 15:35084774-35084774
GRCh38: 15:34792573-34792573
38 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys) SNV Uncertain significance 953784 GRCh37: 15:35084465-35084465
GRCh38: 15:34792264-34792264
39 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln) SNV Uncertain significance 954779 GRCh37: 15:35084372-35084372
GRCh38: 15:34792171-34792171
40 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) SNV Uncertain significance 45175 rs397517059 GRCh37: 15:35085590-35085590
GRCh38: 15:34793389-34793389
41 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.616+6T>C SNV Uncertain significance 919548 GRCh37: 15:35084603-35084603
GRCh38: 15:34792402-34792402
42 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.2T>C (p.Met1Thr) SNV Uncertain significance 967017 GRCh37: 15:35087008-35087008
GRCh38: 15:34794807-34794807
43 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr) SNV Uncertain significance 999442 GRCh37: 15:35085491-35085491
GRCh38: 15:34793290-34793290
44 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile) SNV Uncertain significance 1001284 GRCh37: 15:35083346-35083346
GRCh38: 15:34791145-34791145
45 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) SNV Uncertain significance 264401 rs886039144 GRCh37: 15:35084748-35084748
GRCh38: 15:34792547-34792547
46 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) SNV Uncertain significance 517203 rs1555418829 GRCh37: 15:35084693-35084693
GRCh38: 15:34792492-34792492
47 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.808+3G>A SNV Uncertain significance 45189 rs397517070 GRCh37: 15:35084288-35084288
GRCh38: 15:34792087-34792087
48 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) SNV Uncertain significance 180776 rs730880409 GRCh37: 15:35084725-35084725
GRCh38: 15:34792524-34792524
49 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) SNV Uncertain significance 177786 rs727504323 GRCh37: 15:35084306-35084306
GRCh38: 15:34792105-34792105
50 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) SNV Uncertain significance 45191 rs397517073 GRCh37: 15:35083455-35083455
GRCh38: 15:34791254-34791254

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1r:

72
# Symbol AA change Variation ID SNP ID
1 ACTC1 p.Arg314His VAR_012860 rs121912673
2 ACTC1 p.Glu363Gly VAR_012862 rs121912674

Expression for Cardiomyopathy, Dilated, 1r

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

Pathways for Cardiomyopathy, Dilated, 1r

GO Terms for Cardiomyopathy, Dilated, 1r

Sources for Cardiomyopathy, Dilated, 1r

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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71 UMLS via Orphanet
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