CMD1R
MCID: CRD107
MIFTS: 28

Cardiomyopathy, Dilated, 1r (CMD1R)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 56 13 71
Left Ventricular Noncompaction 4 56 29 6 71
Dilated Cardiomyopathy 1r 12 29 6
Cmd1r 56 12 73
Cardiomyopathy, Dilated, Type 1r 39
Cardiomyopathy, Dilated 1r 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110456
OMIM 56 613424
OMIM Phenotypic Series 56 PS115200 PS604169
MeSH 43 D002311
ICD10 32 I42.0
UMLS 71 C3150681 C3150682

Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 73 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, is also known as left ventricular noncompaction 4. An important gene associated with Cardiomyopathy, Dilated, 1r is ACTC1 (Actin Alpha Cardiac Muscle 1). Affiliated tissues include heart, testes and bone, 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

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:

56
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

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
2 Left Ventricular Noncompaction 4 29

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

40
Heart, Testes, Bone

Publications for Cardiomyopathy, Dilated, 1r

Articles related to Cardiomyopathy, Dilated, 1r:

# Title Authors PMID Year
1
Mutations in sarcomere protein genes in left ventricular noncompaction. 56 6
18506004 2008
2
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 56 6
17611253 2007
3
Gene mutations in apical hypertrophic cardiomyopathy. 56 6
16267253 2005
4
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 56 6
9563954 1998
5
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
6
Dilated Cardiomyopathy Overview 6
20301486 2007
7
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
8
Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. 56
10494087 1999
9
Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy. 56
10528865 1999

Variations for Cardiomyopathy, Dilated, 1r

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

6 (show top 50) (show all 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTC1 NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)SNV Pathogenic 18324 rs121912674 15:35082659-35082659 15:34790458-34790458
2 ACTC1 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)SNV Pathogenic/Likely pathogenic 18331 rs193922680 15:35085599-35085599 15:34793398-34793398
3 ACTC1 NM_005159.5(ACTC1):c.941G>A (p.Arg314His)SNV Likely pathogenic 18323 rs121912673 15:35083364-35083364 15:34791163-34791163
4 ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781
5 ACTC1 NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)SNV Conflicting interpretations of pathogenicity 177786 rs727504323 15:35084306-35084306 15:34792105-34792105
6 ACTC1 NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)SNV Conflicting interpretations of pathogenicity 180771 rs730880404 15:35083337-35083337 15:34791136-34791136
7 ACTC1 NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)SNV Conflicting interpretations of pathogenicity 180769 rs730880402 15:35083419-35083419 15:34791218-34791218
8 ACTC1 NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)SNV Conflicting interpretations of pathogenicity 180776 rs730880409 15:35084725-35084725 15:34792524-34792524
9 ACTC1 NM_005159.5(ACTC1):c.10G>C (p.Asp4His)SNV Conflicting interpretations of pathogenicity 180775 rs730880408 15:35087000-35087000 15:34794799-34794799
10 ACTC1 NM_005159.5(ACTC1):c.309C>A (p.His103Gln)SNV Conflicting interpretations of pathogenicity 377435 rs769303249 15:35085591-35085591 15:34793390-34793390
11 ACTC1 NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)SNV Uncertain significance 410262 rs1060502821 15:35084315-35084315 15:34792114-34792114
12 ACTC1 NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile)SNV Uncertain significance 410267 rs1060502825 15:35084407-35084407 15:34792206-34792206
13 ACTC1 NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser)SNV Uncertain significance 410266 rs267606628 15:35084729-35084729 15:34792528-34792528
14 ACTC1 NM_005159.5(ACTC1):c.62C>T (p.Ala21Val)SNV Uncertain significance 410264 rs1060502823 15:35086948-35086948 15:34794747-34794747
15 ACTC1 NM_005159.5(ACTC1):c.607G>A (p.Val203Ile)SNV Uncertain significance 410263 rs1060502822 15:35084618-35084618 15:34792417-34792417
16 ACTC1 NM_005159.5(ACTC1):c.482T>C (p.Val161Ala)SNV Uncertain significance 410265 rs1060502824 15:35084743-35084743 15:34792542-34792542
17 ACTC1 NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg)SNV Uncertain significance 196406 rs794727502 15:35085712-35085712 15:34793511-34793511
18 ACTC1 NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys)SNV Uncertain significance 217889 rs863225303 15:35083411-35083411 15:34791210-34791210
19 ACTC1 NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)insertion Uncertain significance 180752 rs730880387 15:35086953-35086954 15:34794752-34794753
20 ACTC1 NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)SNV Uncertain significance 180768 rs730880402 15:35083419-35083419 15:34791218-34791218
21 ACTC1 NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)SNV Uncertain significance 180763 rs730880398 15:35084344-35084344 15:34792143-34792143
22 ACTC1 NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile)SNV Uncertain significance 180759 rs730880394 15:35084662-35084662 15:34792461-34792461
23 ACTC1 NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)SNV Uncertain significance 180757 rs730880392 15:35084696-35084696 15:34792495-34792495
24 ACTC1 NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)SNV Uncertain significance 50937 rs397517072 15:35086927-35086927 15:34794726-34794726
25 ACTC1 NM_005159.5(ACTC1):c.129G>A (p.Gln43=)SNV Uncertain significance 240098 rs878854753 15:35086881-35086881 15:34794680-34794680
26 ACTC1 NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala)SNV Uncertain significance 478617 rs1555418824 15:35084663-35084663 15:34792462-34792462
27 ACTC1 NM_005159.5(ACTC1):c.574A>G (p.Met192Val)SNV Uncertain significance 478618 rs1555418823 15:35084651-35084651 15:34792450-34792450
28 ACTC1 NM_005159.5(ACTC1):c.623G>A (p.Arg208His)SNV Uncertain significance 520473 rs142839840 15:35084476-35084476 15:34792275-34792275
29 ACTC1 NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)SNV Uncertain significance 538809 rs1555418679 15:35083332-35083332 15:34791131-34791131
30 ACTC1 NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)SNV Uncertain significance 45191 rs397517073 15:35083455-35083455 15:34791254-34791254
31 ACTC1 NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)SNV Uncertain significance 18326 rs121912676 15:35085632-35085632 15:34793431-34793431
32 ACTC1 NM_005159.5(ACTC1):c.501C>G (p.Ile167Met)SNV Uncertain significance 471457 rs1306504752 15:35084724-35084724 15:34792523-34792523
33 ACTC1 NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)SNV Uncertain significance 487204 rs1555418843 15:35084767-35084767 15:34792566-34792566
34 ACTC1 NM_005159.5(ACTC1):c.134T>C (p.Val45Ala)SNV Uncertain significance 471455 rs1555418924 15:35085766-35085766 15:34793565-34793565
35 ACTC1 NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser)SNV Uncertain significance 538811 rs1247069535 15:35085446-35085446 15:34793245-34793245
36 ACTC1 NC_000015.9:g.(?_35082593)_(35087029_?)dupduplication Uncertain significance 538814 15:35082593-35087029 15:34790392-34794828
37 ACTC1 NM_005159.5(ACTC1):c.293T>C (p.Val98Ala)SNV Uncertain significance 538806 rs1555418891 15:35085607-35085607 15:34793406-34793406
38 ACTC1 NM_005159.5(ACTC1):c.507G>A (p.Glu169=)SNV Uncertain significance 538812 rs1555418837 15:35084718-35084718 15:34792517-34792517
39 ACTC1 NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)SNV Uncertain significance 538805 rs1555418912 15:35085722-35085722 15:34793521-34793521
40 ACTC1 NM_005159.5(ACTC1):c.94G>A (p.Val32Ile)SNV Uncertain significance 538808 rs1555419003 15:35086916-35086916 15:34794715-34794715
41 ACTC1 NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)SNV Uncertain significance 538807 rs768526036 15:35086998-35086998 15:34794797-34794797
42 ACTC1 NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)SNV Uncertain significance 538810 rs730880408 15:35087000-35087000 15:34794799-34794799
43 ACTC1 NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg)SNV Uncertain significance 565936 rs1566967406 15:35084376-35084376 15:34792175-34792175
44 ACTC1 NM_005159.5(ACTC1):c.524A>C (p.His175Pro)SNV Uncertain significance 566055 rs1566967487 15:35084701-35084701 15:34792500-34792500
45 ACTC1 NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)SNV Uncertain significance 570215 rs1566967697 15:35085503-35085503 15:34793302-34793302
46 ACTC1 NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)SNV Uncertain significance 656273 15:35082666-35082666 15:34790465-34790465
47 ACTC1 NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)duplication Uncertain significance 652872 15:35083345-35083346 15:34791144-34791145
48 ACTC1 NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)indel Uncertain significance 644014 15:35083370-35083371 15:34791169-34791170
49 ACTC1 NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)SNV Uncertain significance 658563 15:35083413-35083413 15:34791212-34791212
50 ACTC1 NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)SNV Uncertain significance 642187 15:35084392-35084392 15:34792191-34792191

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

73
# 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

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