MCID: CRD097
MIFTS: 24

Cardiomyopathy, Dilated, 1d malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 49 11 65
Left Ventricular Noncompaction 6 49 22 24
Cardiomyopathy, Dilated 1d 67
 
Lvnc6 22
Cmd1d 67

Characteristics:

HPO:

61
cardiomyopathy, dilated, 1d:
Mortality/Aging: sudden death
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601494
MedGen34 C1832243
MeSH36 D002311
UMLS65 C1832243

Summaries for Cardiomyopathy, Dilated, 1d

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UniProtKB/Swiss-Prot:67 Cardiomyopathy, dilated 1D: 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, 1d, also known as left ventricular noncompaction 6, is related to tnnt2-related dilated cardiomyopathy and left ventricular noncompaction 1, with or without congenital heart defects, and has symptoms including atrial fibrillation, left ventricular hypertrophy and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type). Affiliated tissues include heart.

Description from OMIM:49 601494

Related Diseases for Cardiomyopathy, Dilated, 1d

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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, 1d via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tnnt2-related dilated cardiomyopathy11.6
2left ventricular noncompaction 1, with or without congenital heart defects10.4

Symptoms for Cardiomyopathy, Dilated, 1d

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Symptoms by clinical synopsis from OMIM:

601494

Clinical features from OMIM:

601494

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

id Description Frequency HPO Source Accession
1 atrial fibrillation rare (5%) HP:0005110
2 left ventricular hypertrophy rare (5%) HP:0001712
3 dilated cardiomyopathy HP:0001644
4 congestive heart failure HP:0001635

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1d

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiomyopathy, Dilated, 1d

Genetic Tests for Cardiomyopathy, Dilated, 1d

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Genetic tests related to Cardiomyopathy, Dilated, 1d:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 622 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

33
Heart

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

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Publications for Cardiomyopathy, Dilated, 1d

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Variations for Cardiomyopathy, Dilated, 1d

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

67
id Symbol AA change Variation ID SNP ID
1TNNT2p.Arg151TrpVAR_016198
2TNNT2p.Arg141TrpVAR_043983
3TNNT2p.Arg215LeuVAR_043984

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn)single nucleotide variantLikely pathogenic, Pathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
3TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantLikely pathogenic, Pathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
4TNNT2NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp)single nucleotide variantLikely pathogenic, Pathogenicrs74315380GRCh37Chr 1, 201333494: 201333494
5TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)single nucleotide variantPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
6TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
7TNNT2NM_000364.3(TNNT2): c.316G> A (p.Glu106Lys)single nucleotide variantPathogenicrs869312881GRCh37Chr 1, 201334414: 201334414
8TNNT2NM_000364.3(TNNT2): c.248A> G (p.Asn83Ser)single nucleotide variantLikely pathogenicrs397516450GRCh37Chr 1, 201334784: 201334784
9TNNT2NM_000364.3(TNNT2): c.294T> G (p.Asp98Glu)single nucleotide variantLikely pathogenicrs397516454GRCh37Chr 1, 201334738: 201334738
10TNNT2NM_000364.3(TNNT2): c.382G> A (p.Glu128Lys)single nucleotide variantLikely pathogenicrs397516461GRCh37Chr 1, 201334348: 201334348
11TNNT2NM_000364.3(TNNT2): c.422G> A (p.Arg141Gln)single nucleotide variantLikely pathogenicrs397516464GRCh37Chr 1, 201333493: 201333493
12TNNT2NM_000364.3(TNNT2): c.422G> C (p.Arg141Pro)single nucleotide variantLikely pathogenicrs397516464GRCh37Chr 1, 201333493: 201333493
13TNNT2NM_000364.3(TNNT2): c.430C> G (p.Arg144Gly)single nucleotide variantLikely pathogenicrs45525839GRCh37Chr 1, 201333485: 201333485
14TNNT2NM_000364.3(TNNT2): c.505C> T (p.Arg169Ter)single nucleotide variantLikely pathogenicrs397516469GRCh37Chr 1, 201332519: 201332519
15TNNT2NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516471GRCh37Chr 1, 201332476: 201332476
16TNNT2NM_001001430.2(TNNT2): c.629_631delAGA (p.Lys210del)deletionPathogenicrs45578238GRCh37Chr 1, 201331099: 201331101

Expression for genes affiliated with Cardiomyopathy, Dilated, 1d

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1d

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

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Sources for Cardiomyopathy, Dilated, 1d

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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