MCID: CRD107
MIFTS: 22

Cardiomyopathy, Dilated, 1r malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1r

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1r:

Name: Cardiomyopathy, Dilated, 1r 49 11 65
Left Ventricular Noncompaction 4 49 22 24 65
Cardiomyopathy, Dilated 1r 67
 
Lvnc4 22
Cmd1r 67

Characteristics:

HPO:

61
cardiomyopathy, dilated, 1r:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 613424
MeSH36 D002311
UMLS65 C3150682, C3150681

Summaries for Cardiomyopathy, Dilated, 1r

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UniProtKB/Swiss-Prot:67 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 left ventricular noncompaction 1, with or without congenital heart defects, 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.

Description from OMIM:49 613424

Related Diseases for Cardiomyopathy, Dilated, 1r

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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 Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Cryab-Related Dilated Cardiomyopathy
Mypn-Related Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dmd-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 cardiomyopathy11.8
2left ventricular noncompaction 1, with or without congenital heart defects10.4

Symptoms for Cardiomyopathy, Dilated, 1r

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Symptoms by clinical synopsis from OMIM:

613424

Clinical features from OMIM:

613424

HPO human phenotypes related to Cardiomyopathy, Dilated, 1r:

id Description Frequency HPO Source Accession
1 left ventricular hypertrophy rare (5%) HP:0001712
2 restrictive cardiomyopathy rare (5%) HP:0001723
3 ventricular arrhythmia rare (5%) HP:0004308
4 congestive heart failure HP:0001635
5 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1r

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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
3Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
4Inflammation, Cardiac Sympathetic Innervation, and Arrhythmic Sudden DeathRecruitingNCT01919983
5Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)Active, not recruitingNCT01873976

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1r

Genetic Tests for Cardiomyopathy, Dilated, 1r

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Genetic tests related to Cardiomyopathy, Dilated, 1r:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 422 ACTC1

Anatomical Context for Cardiomyopathy, Dilated, 1r

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

33
Heart

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

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Publications for Cardiomyopathy, Dilated, 1r

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Variations for Cardiomyopathy, Dilated, 1r

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

67
id Symbol AA change Variation ID SNP ID
1ACTC1p.Arg314HisVAR_012860
2ACTC1p.Glu363GlyVAR_012862

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.866T> C (p.Ile289Thr)single nucleotide variantLikely pathogenicrs727504379GRCh37Chr 15, 35083439: 35083439
2NM_005159.4(ACTC1): c.941G> A (p.Arg314His)single nucleotide variantPathogenicrs121912673GRCh37Chr 15, 35083364: 35083364
3NM_005159.4(ACTC1): c.1088A> G (p.Glu363Gly)single nucleotide variantPathogenicrs121912674GRCh37Chr 15, 35082659: 35082659
4NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys)single nucleotide variantLikely pathogenic, Pathogenicrs193922680GRCh37Chr 15, 35085599: 35085599
5NM_005159.4(ACTC1): c.894C> G (p.Asn298Lys)single nucleotide variantPathogenicrs863225303GRCh37Chr 15, 35083411: 35083411
6NM_005159.4(ACTC1): c.553C> T (p.Arg185Trp)single nucleotide variantLikely pathogenicrs397517065GRCh37Chr 15, 35084672: 35084672

Expression for genes affiliated with Cardiomyopathy, Dilated, 1r

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1r

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

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Sources for Cardiomyopathy, Dilated, 1r

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet