MCID: CRD097
MIFTS: 40

Cardiomyopathy, Dilated, 1d

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 53 13 69
Cmd1d 53 12 71
Left Ventricular Noncompaction 6 53 28
Dilated Cardiomyopathy 1d 12 14
Left Ventricular Noncompaction 6, Included; Lvnc6, Included 53
Left Ventricular Noncompaction 6, Included 53
Cardiomyopathy, Dilated 1d 71
Lvnc6, Included 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1d:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 53 601494
Disease Ontology 12 DOID:0110426
ICD10 32 I42.0
MedGen 39 C1832243
MeSH 41 D002311
UMLS 69 C1832243

Summaries for Cardiomyopathy, Dilated, 1d

UniProtKB/Swiss-Prot : 71 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 cmd1d, is related to gas gangrene and muscular dystrophy, limb-girdle, type 2c, and has symptoms including congestive heart failure, left ventricular hypertrophy and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNT2 gene on chromosome 1q32.

Description from OMIM: 601494

Related Diseases for Cardiomyopathy, Dilated, 1d

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Dilated Cardiomyopathy 1t Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 gas gangrene 10.1 DMD TNNT2
2 muscular dystrophy, limb-girdle, type 2c 10.0 DAG1 DMD
3 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
4 myopathy, myofibrillar, 2 10.0 DMD LDB3
5 myofibrillar myopathy 9.9 DMD LDB3
6 familial isolated dilated cardiomyopathy 9.9 DMD LDB3 TNNT2
7 rigid spine muscular dystrophy 1 9.8 DMD LAMA2
8 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DAG1 DMD LAMA2
9 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 DAG1 DMD LAMA2
10 muscular dystrophy, becker type 9.8 DAG1 DMD LAMA2
11 intrinsic cardiomyopathy 9.8 DMD TNNT2
12 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 DAG1 DMD LAMA2
13 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 DAG1 DMD LAMA2
14 muscle tissue disease 9.7 DAG1 DMD LAMA2
15 muscle eye brain disease 9.7 DAG1 DMD LAMA2
16 walker-warburg syndrome 9.7 DAG1 DMD LAMA2
17 muscular dystrophy, duchenne type 9.6 DAG1 DMD LAMA2 TNNT2
18 cardiomyopathy, dilated, 1b 9.5 DAG1 DMD LAMA2 LDB3
19 muscular dystrophy, congenital, 1b 9.5 DAG1 DMD LAMA2 LDB3
20 cardiomyopathy, dilated, 1a 9.5 DAG1 DMD LAMA2 LDB3
21 dilated cardiomyopathy 8.7 DAG1 DMD LAMA2 LDB3 MMP9 TNNT2

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1d:



Diseases related to Cardiomyopathy, Dilated, 1d

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1d

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
left ventricular dilation
congestive heart failure
sudden death
myocyte hypertrophy
atrial fibrillation (in some patients)
more

Clinical features from OMIM:

601494

Human phenotypes related to Cardiomyopathy, Dilated, 1d:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
3 dilated cardiomyopathy 31 HP:0001644
4 atrial fibrillation 31 occasional (7.5%) HP:0005110
5 left ventricular noncompaction 31 occasional (7.5%) HP:0030682

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 PPP2R5A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 PPP2R5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.74 LAMB3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.74 LAMB3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.74 PPP2R5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 LAMB3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 HMOX2 LAMB3 PPP2R5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.74 HMOX2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.74 LAMB3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.74 HMOX2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 LAMB3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 HMOX2 PPP2R5A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.74 PPP2R5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 LAMB3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 PPP2R5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.74 PPP2R5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.74 LAMB3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 LAMB3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.74 PPP2R5A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.74 LAMB3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 PPP2R5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.74 HMOX2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.74 LAMB3

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1d:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 DAG1 DMD HMOX2 KCNH1 LAMA2 LDB3
2 mortality/aging MP:0010768 9.86 DAG1 DMD HMOX2 LAMA2 LAMB3 LDB3
3 digestive/alimentary MP:0005381 9.72 DMD HMOX2 LAMB3 LDB3 MMP9
4 muscle MP:0005369 9.7 DAG1 DMD HMOX2 LAMA2 LDB3 MMP9
5 nervous system MP:0003631 9.5 LAMA2 MMP9 TNNT2 DAG1 DMD HMOX2
6 respiratory system MP:0005388 9.02 DMD HMOX2 LAMB3 LDB3 MMP9

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1d

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

Genetic Tests for Cardiomyopathy, Dilated, 1d

Genetic tests related to Cardiomyopathy, Dilated, 1d:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 6 28 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1d

Variations for Cardiomyopathy, Dilated, 1d

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

71
# Symbol AA change Variation ID SNP ID
1 TNNT2 p.Arg151Trp VAR_016198 rs74315379
2 TNNT2 p.Arg141Trp VAR_043983 rs74315380
3 TNNT2 p.Arg215Leu VAR_043984 rs121964860

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
3 TNNT2 NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu) single nucleotide variant Pathogenic rs121964860 GRCh37 Chromosome 1, 201331116: 201331116
4 TNNT2 NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs121964861 GRCh37 Chromosome 1, 201328764: 201328764
5 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Likely pathogenic rs397516471 GRCh37 Chromosome 1, 201332476: 201332476
6 TNNT2 NM_001001430.2(TNNT2): c.629_631delAGA (p.Lys210del) deletion Pathogenic rs45578238 GRCh37 Chromosome 1, 201331099: 201331101
7 TNNT2 NM_000364.3(TNNT2): c.316G> A (p.Glu106Lys) single nucleotide variant Pathogenic rs869312881 GRCh37 Chromosome 1, 201334414: 201334414
8 TNNT2 NM_001001430.2(TNNT2): c.517C> T (p.Arg173Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503512 GRCh38 Chromosome 1, 201363349: 201363349

Expression for Cardiomyopathy, Dilated, 1d

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

Pathways for Cardiomyopathy, Dilated, 1d

GO Terms for Cardiomyopathy, Dilated, 1d

Cellular components related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.54 DAG1 DMD KCNH1
2 myofibril GO:0030016 9.4 DMD TNNT2
3 Z disc GO:0030018 9.33 DMD LDB3 PPP2R5A
4 costamere GO:0043034 9.32 DAG1 DMD
5 dystrophin-associated glycoprotein complex GO:0016010 9.26 DAG1 DMD
6 sarcolemma GO:0042383 9.13 DAG1 DMD LAMA2
7 basement membrane GO:0005604 8.8 DAG1 LAMA2 LAMB3

Biological processes related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.4 DMD TNNT2
2 muscle filament sliding GO:0030049 9.37 DMD TNNT2
3 endodermal cell differentiation GO:0035987 9.32 LAMB3 MMP9
4 skeletal muscle tissue regeneration GO:0043403 9.26 DAG1 DMD
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.16 DAG1 DMD
6 Schwann cell differentiation GO:0014037 8.96 DAG1 LAMA2
7 extracellular matrix organization GO:0030198 8.92 DAG1 LAMA2 LAMB3 MMP9

Molecular functions related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 DAG1 DMD
2 vinculin binding GO:0017166 8.96 DAG1 DMD
3 dystroglycan binding GO:0002162 8.62 DAG1 DMD

Sources for Cardiomyopathy, Dilated, 1d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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