MCID: CRD107
MIFTS: 21

Cardiomyopathy, Dilated, 1r

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 57 13 73
Left Ventricular Noncompaction 4 57 29 6 73
Dilated Cardiomyopathy 1r 12 29 6
Cmd1r 57 12 75
Cardiomyopathy, Dilated, Type 1r ) 40
Cardiomyopathy, Dilated 1r 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, 1r:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 75 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 congestive heart failure and dilated 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular dilation
myocyte hypertrophy
congestive heart failure
left ventricular noncompaction (in some patients)
left ventricular hypertrophy (in some patients)
more

Clinical features from OMIM:

613424

Human phenotypes related to Cardiomyopathy, Dilated, 1r:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
4 restrictive cardiomyopathy 32 occasional (7.5%) HP:0001723
5 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
6 left ventricular noncompaction 32 occasional (7.5%) HP:0030682

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:

41
Heart

Publications for Cardiomyopathy, Dilated, 1r

Variations for Cardiomyopathy, Dilated, 1r

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

75
# 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 92)
# 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.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
6 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
7 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
8 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
9 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
10 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
11 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
12 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
13 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
14 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
15 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
16 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
17 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
18 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
19 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
20 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
21 ACTC1 NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys) single nucleotide variant Pathogenic rs863225303 GRCh38 Chromosome 15, 34791210: 34791210
22 ACTC1 NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys) single nucleotide variant Pathogenic rs863225303 GRCh37 Chromosome 15, 35083411: 35083411
23 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
24 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
25 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
26 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
27 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
28 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357
29 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh38 Chromosome 15, 34794680: 34794680
30 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh37 Chromosome 15, 35086881: 35086881
31 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh38 Chromosome 15, 34790493: 34790493
32 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh37 Chromosome 15, 35082694: 35082694
33 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh38 Chromosome 15, 34792487: 34792487
34 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh37 Chromosome 15, 35084688: 35084688
35 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh37 Chromosome 15, 35085501: 35085501
36 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh38 Chromosome 15, 34793300: 34793300
37 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh37 Chromosome 15, 35084315: 35084315
38 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh38 Chromosome 15, 34792114: 34792114
39 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh37 Chromosome 15, 35085591: 35085591
40 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh38 Chromosome 15, 34793390: 34793390
41 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh38 Chromosome 15, 34792206: 34792206
42 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh37 Chromosome 15, 35084407: 35084407
43 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh38 Chromosome 15, 34792528: 34792528
44 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
45 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh38 Chromosome 15, 34794743: 34794743
46 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh37 Chromosome 15, 35086944: 35086944
47 ACTC1 NM_005159.4(ACTC1): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs1060502823 GRCh38 Chromosome 15, 34794747: 34794747
48 ACTC1 NM_005159.4(ACTC1): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs1060502823 GRCh37 Chromosome 15, 35086948: 35086948
49 ACTC1 NM_005159.4(ACTC1): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs1060502822 GRCh37 Chromosome 15, 35084618: 35084618
50 ACTC1 NM_005159.4(ACTC1): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs1060502822 GRCh38 Chromosome 15, 34792417: 34792417

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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