MCID: CRD097
MIFTS: 25

Cardiomyopathy, Dilated, 1d malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 52 12 68
Left Ventricular Noncompaction 6 52 24 27
Cmd1d 11 70
 
Cardiomyopathy, Dilated 1d 70
Dilated Cardiomyopathy 1d 11
Lvnc6 24

Characteristics:

HPO:

64
cardiomyopathy, dilated, 1d:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM52 601494
Disease Ontology11 DOID:0110426
ICD1030 I42.0
MedGen37 C1832243
MeSH39 D002311

Summaries for Cardiomyopathy, Dilated, 1d

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UniProtKB/Swiss-Prot:70 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 cardiomyopathy, dilated, 1a, and has symptoms including left ventricular hypertrophy, atrial fibrillation and congestive heart failure. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type). Affiliated tissues include heart.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the TNNT2 gene on chromosome 1q32.

Description from OMIM:52 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 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, 1d via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tnnt2-related dilated cardiomyopathy11.0
2cardiomyopathy, dilated, 1a10.9
3left ventricular noncompaction 1, with or without congenital heart defects10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1d

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Symptoms by clinical synopsis from OMIM:

601494

Clinical features from OMIM:

601494

Human phenotypes related to Cardiomyopathy, Dilated, 1d:

 64
id Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy64 rare (5%) HP:0001712
2 atrial fibrillation64 rare (5%) HP:0005110
3 congestive heart failure64 HP:0001635
4 dilated cardiomyopathy64 HP:0001644

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 627 24 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

36
Heart

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:

70
id Symbol AA change Variation ID SNP ID
1TNNT2p.Arg151TrpVAR_016198rs74315379
2TNNT2p.Arg141TrpVAR_043983rs74315380
3TNNT2p.Arg215LeuVAR_043984rs121964860

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn)SNVLikely pathogenic, Pathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)SNVLikely pathogenic, Pathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
3TNNT2NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp)SNVLikely pathogenic, Pathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
4TNNT2NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp)SNVLikely pathogenic, Pathogenicrs74315380GRCh37Chr 1, 201333494: 201333494
5TNNT2NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu)SNVPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
6TNNT2NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn)SNVPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
7TNNT2NM_000364.3(TNNT2): c.316G> A (p.Glu106Lys)SNVPathogenicrs869312881GRCh37Chr 1, 201334414: 201334414
8TNNT2NM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet