MCID: CRD107
MIFTS: 28

Cardiomyopathy, Dilated, 1r malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

About this section

Aliases & Descriptions for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 51 12 67
Left Ventricular Noncompaction 4 51 24 26 67
Cardiomyopathy, Dilated 1r 69 26
 
Cmd1r 11 69
Dilated Cardiomyopathy 1r 11
Lvnc4 24

Characteristics:

HPO:

63
cardiomyopathy, dilated, 1r:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 613424
Disease Ontology11 DOID:0110456
ICD1029 I42.0
MeSH38 D002311

Summaries for Cardiomyopathy, Dilated, 1r

About this section
UniProtKB/Swiss-Prot:69 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 left ventricular hypertrophy, restrictive cardiomyopathy and ventricular arrhythmia. An important gene associated with Cardiomyopathy, Dilated, 1r is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the ACTC1 gene on chromosome 15q14.

Description from OMIM:51 613424

Related Diseases for Cardiomyopathy, Dilated, 1r

About this section

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 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Prdm16-Related Dilated Cardiomyopathy Sdha-Related Dilated 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 Psen1-Related Dilated Cardiomyopathy
Psen2-Related Dilated Cardiomyopathy Rbm20-Related Dilated Cardiomyopathy
Scn5a-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:

idRelated DiseaseScoreTop Affiliating Genes
1actc1-related dilated cardiomyopathy11.1
2cardiomyopathy, dilated, 1a10.9
3left ventricular noncompaction 1, with or without congenital heart defects10.9

Symptoms for Cardiomyopathy, Dilated, 1r

About this section

Symptoms by clinical synopsis from OMIM:

613424

Clinical features from OMIM:

613424

Human phenotypes related to Cardiomyopathy, Dilated, 1r:

 63
id Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy63 rare (5%) HP:0001712
2 restrictive cardiomyopathy63 rare (5%) HP:0001723
3 ventricular arrhythmia63 rare (5%) HP:0004308
4 congestive heart failure63 HP:0001635
5 dilated cardiomyopathy63 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1r

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1PercutaneOus StEm Cell Injection Delivery Effects On Neomyogenesis in Dilated CardioMyopathy (The POSEIDON-DCM Study)Active, not recruitingNCT01392625Phase 1, Phase 2
2Optimized Biventricular Pacing Allograft RecipientsTerminatedNCT01290822Phase 1, Phase 2
3Inflammation, Cardiac Sympathetic Innervation, and Arrhythmic Sudden DeathUnknown statusNCT01919983
4Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
5Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)Active, not recruitingNCT01873976

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1r

Genetic Tests for Cardiomyopathy, Dilated, 1r

About this section

Genetic tests related to Cardiomyopathy, Dilated, 1r:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1r26
2 Left Ventricular Noncompaction 426 24 ACTC1

Anatomical Context for Cardiomyopathy, Dilated, 1r

About this section

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

35
Heart

Animal Models for Cardiomyopathy, Dilated, 1r or affiliated genes

About this section

Publications for Cardiomyopathy, Dilated, 1r

About this section

Variations for Cardiomyopathy, Dilated, 1r

About this section

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

69
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860rs121912673
2ACTC1p.Glu363GlyVAR_012862rs121912674

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACTC1NM_005159.4(ACTC1): c.941G> A (p.Arg314His)SNVPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
2ACTC1NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)SNVPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
3ACTC1NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)SNVLikely pathogenic, Pathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
4ACTC1NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys)SNVPathogenicrs863225303GRCh38Chr 15, 34791210: 34791210

Expression for genes affiliated with Cardiomyopathy, Dilated, 1r

About this section
Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1r.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1r

About this section

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1r

About this section

Sources for Cardiomyopathy, Dilated, 1r

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet