CMD1R
MCID: CRD107
MIFTS: 23

Cardiomyopathy, Dilated, 1r (CMD1R)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 58 13 74
Left Ventricular Noncompaction 4 58 30 6 74
Dilated Cardiomyopathy 1r 12 30 6
Cmd1r 58 12 76
Cardiomyopathy, Dilated, Type 1r ) 41
Cardiomyopathy, Dilated 1r 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, 1r:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 76 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, 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.

Description from OMIM: 613424

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1r

Human phenotypes related to Cardiomyopathy, Dilated, 1r:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
2 restrictive cardiomyopathy 33 occasional (7.5%) HP:0001723
3 ventricular arrhythmia 33 occasional (7.5%) HP:0004308
4 left ventricular noncompaction 33 occasional (7.5%) HP:0030682
5 congestive heart failure 33 HP:0001635
6 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
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 30 ACTC1
2 Left Ventricular Noncompaction 4 30

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1r

Articles related to Cardiomyopathy, Dilated, 1r:

# Title Authors Year
1
Mutations in sarcomere protein genes in left ventricular noncompaction. ( 18506004 )
2008
2
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. ( 17611253 )
2007
3
Gene mutations in apical hypertrophic cardiomyopathy. ( 16267253 )
2005
4
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. ( 10966831 )
2000
5
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. ( 9563954 )
1998

Variations for Cardiomyopathy, Dilated, 1r

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

76
# Symbol AA change Variation ID SNP ID
1 ACTC1 p.Arg314His VAR_012860 rs121912673
2 ACTC1 p.Glu363Gly VAR_012862 rs121912674

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

6 (show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh37 Chromosome 15, 35083364: 35083364
2 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh38 Chromosome 15, 34791163: 34791163
3 ACTC1 NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly) single nucleotide variant Pathogenic rs121912674 GRCh37 Chromosome 15, 35082659: 35082659
4 ACTC1 NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly) single nucleotide variant Pathogenic rs121912674 GRCh38 Chromosome 15, 34790458: 34790458
5 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh37 Chromosome 15, 35085632: 35085632
6 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh38 Chromosome 15, 34793431: 34793431
7 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
8 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
9 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh37 Chromosome 15, 35085681: 35085681
10 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh38 Chromosome 15, 34793480: 34793480
11 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign/Likely benign rs148695567 GRCh37 Chromosome 15, 35085437: 35085437
12 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign/Likely benign rs148695567 GRCh38 Chromosome 15, 34793236: 34793236
13 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh37 Chromosome 15, 35084760: 35084760
14 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh38 Chromosome 15, 34792559: 34792559
15 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh37 Chromosome 15, 35084712: 35084712
16 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh38 Chromosome 15, 34792511: 34792511
17 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Conflicting interpretations of pathogenicity rs138347995 GRCh37 Chromosome 15, 35083402: 35083402
18 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Conflicting interpretations of pathogenicity rs138347995 GRCh38 Chromosome 15, 34791201: 34791201
19 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh37 Chromosome 15, 35083378: 35083378
20 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh38 Chromosome 15, 34791177: 34791177
21 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh37 Chromosome 15, 35086982: 35086982
22 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh38 Chromosome 15, 34794781: 34794781
23 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
24 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
25 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
26 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
27 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
28 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
29 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh38 Chromosome 15, 34792461: 34792461
30 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh37 Chromosome 15, 35084662: 35084662
31 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
32 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
33 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
34 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
35 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
36 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
37 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
38 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
39 ACTC1 NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys) single nucleotide variant Pathogenic rs863225303 GRCh38 Chromosome 15, 34791210: 34791210
40 ACTC1 NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys) single nucleotide variant Pathogenic rs863225303 GRCh37 Chromosome 15, 35083411: 35083411
41 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
42 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
43 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
44 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
45 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
46 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357
47 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh38 Chromosome 15, 34794680: 34794680
48 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh37 Chromosome 15, 35086881: 35086881
49 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh38 Chromosome 15, 34790493: 34790493
50 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh37 Chromosome 15, 35082694: 35082694

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

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