MCID: CRD097
MIFTS: 23

Cardiomyopathy, Dilated, 1d malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Dilated, 1d

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MalaCards based summary: Cardiomyopathy, Dilated, 1d, is also known as left ventricular noncompaction 6, and has symptoms including left ventricular hypertrophy, atrial fibrillation and autosomal dominant inheritance. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (troponin T type 2 (cardiac)). Affiliated tissues include heart.

Description from OMIM:47 601494

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

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Cardiomyopathy, Dilated, 1d, Aliases & Descriptions:

Name: Cardiomyopathy, Dilated, 1d 47 11
 
Left Ventricular Noncompaction 6 47 22 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


External Ids:

OMIM47 601494

Related Diseases for Cardiomyopathy, Dilated, 1d

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Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v cardiomyopathy, dilated, 1d
Cardiomyopathy, Dilated, 1aa 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, 1n
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated 1c Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Familial Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy

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 left ventricular hypertrophy rare (5%) HP:0001712
2 atrial fibrillation rare (5%) HP:0005110
3 autosomal dominant inheritance HP:0000006
4 congestive heart failure HP:0001635
5 dilated cardiomyopathy HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1d

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Dilated, 1d

Search 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 24 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:

64
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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.649_651delAAG (p.Lys217del)deletionPathogenicrs121964859GRCh37Chr 1, 201331100: 201331102
3TNNT2NM_000364.3(TNNT2): c.451C> T (p.Arg151Trp)single nucleotide variantPathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
4TNNT2NM_000364.3(TNNT2): c.421C> T (p.Arg141Trp)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

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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Compounds for genes affiliated with Cardiomyopathy, Dilated, 1d

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

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Products for genes affiliated with Cardiomyopathy, Dilated, 1d

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Dilated, 1d

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet