CMD1R
MCID: CRD107
MIFTS: 27

Cardiomyopathy, Dilated, 1r (CMD1R) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

Aliases & Descriptions for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 54 13 69
Left Ventricular Noncompaction 4 54 24 29 69
Cardiomyopathy, Dilated 1r 66 29
Cmd1r 12 66
Dilated Cardiomyopathy 1r 12
Lvnc4 24

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 613424
Disease Ontology 12 DOID:0110456
ICD10 33 I42.0
MeSH 42 D002311

Summaries for Cardiomyopathy, Dilated, 1r

UniProtKB/Swiss-Prot : 66 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 actc1-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, 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

Related Diseases for Cardiomyopathy, Dilated, 1r

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

Diseases related to Cardiomyopathy, Dilated, 1r via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 actc1-related dilated cardiomyopathy 11.1
2 cardiomyopathy, dilated, 1a 10.9
3 left ventricular noncompaction 1, with or without congenital heart defects 10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1r

Symptoms by clinical synopsis from OMIM:

613424

Clinical features from OMIM:

613424

Human phenotypes related to Cardiomyopathy, Dilated, 1r:

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

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1r

Interventional clinical trials:


id Name Status NCT ID Phase
1 PercutaneOus StEm Cell Injection Delivery Effects On Neomyogenesis in Dilated CardioMyopathy (The POSEIDON-DCM Study) Active, not recruiting NCT01392625 Phase 1, Phase 2
2 Optimized Biventricular Pacing Allograft Recipients Terminated NCT01290822 Phase 1, Phase 2
3 Inflammation, Cardiac Sympathetic Innervation, and Arrhythmic Sudden Death Unknown status NCT01919983
4 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Active, not recruiting NCT01873963
5 Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers) Active, not recruiting NCT01873976

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1r

Genetic Tests for Cardiomyopathy, Dilated, 1r

Genetic tests related to Cardiomyopathy, Dilated, 1r:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1r 29
2 Left Ventricular Noncompaction 4 29 24 ACTC1

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1r

Variations for Cardiomyopathy, Dilated, 1r

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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