MCID: CRD107
MIFTS: 21

Cardiomyopathy, Dilated, 1r

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 53 13 69
Left Ventricular Noncompaction 4 53 28 69
Cmd1r 53 12 71
Dilated Cardiomyopathy 1r 12 28
Cardiomyopathy, Dilated 1r 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 71 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, and has symptoms including congestive heart failure, left ventricular hypertrophy and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1r is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart.

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:

53
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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
3 dilated cardiomyopathy 31 HP:0001644
4 restrictive cardiomyopathy 31 occasional (7.5%) HP:0001723
5 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
6 left ventricular noncompaction 31 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 28 ACTC1
2 Left Ventricular Noncompaction 4 28

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1r

Variations for Cardiomyopathy, Dilated, 1r

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Pathogenic/Likely pathogenic rs121912673 GRCh37 Chromosome 15, 35083364: 35083364
2 ACTC1 NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly) single nucleotide variant Pathogenic rs121912674 GRCh37 Chromosome 15, 35082659: 35082659
3 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
4 ACTC1 NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys) single nucleotide variant Pathogenic rs863225303 GRCh38 Chromosome 15, 34791210: 34791210

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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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