CMD1D
MCID: CRD097
MIFTS: 40

Cardiomyopathy, Dilated, 1d (CMD1D) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

Aliases & Descriptions for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 54 13 69
Left Ventricular Noncompaction 6 54 24 29
Dilated Cardiomyopathy 1d 12 14
Cmd1d 12 66
Cardiomyopathy, Dilated 1d 66
Lvnc6 24

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1d:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601494
Disease Ontology 12 DOID:0110426
ICD10 33 I42.0
MedGen 40 C1832243
MeSH 42 D002311

Summaries for Cardiomyopathy, Dilated, 1d

UniProtKB/Swiss-Prot : 66 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 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 behavior/neurological

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 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 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related 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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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:

(show all 32)
id Related Disease Score Top Affiliating Genes
1 tnnt2-related dilated cardiomyopathy 11.0
2 cardiomyopathy, dilated, 1a 10.9
3 left ventricular noncompaction 1, with or without congenital heart defects 10.9
4 cubitus valgus with mental retardation and unusual facies 10.1 DMD LAMA2
5 pancreatic agenesis 1 10.1 DAG1 DMD
6 sdhc-related paraganglioma and gastric stromal sarcoma 10.1 DAG1 DMD
7 glomerulonephritis 10.1 DMD TNNT2
8 cone-rod dystrophy, prph2-related 10.1 DAG1 DMD
9 nonsyndromic hearing loss and deafness, mitochondrial 10.1 DMD LDB3
10 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.0 DMD LDB3
11 primary cutaneous gamma/delta-positive t-cell lymphoma 10.0 DMD LDB3 TNNT2
12 sudden infant death with dysgenesis of the testes syndrome 10.0 DAG1 DMD LAMA2
13 dermatofibrosarcoma protuberans 10.0 DAG1 DMD LAMA2
14 immunodeficiency 34, mycobacteriosis, x-linked 10.0 DAG1 DMD TNNT2
15 thrombocytopenia, x-linked 10.0 DMD LAMA2
16 cardiomyopathy, dilated, 1x 10.0 DAG1 DMD LAMA2
17 glycogen storage disease 0, muscle 10.0 DAG1 DMD LAMA2
18 myasthenia gravis, limb-girdle 10.0 DAG1 DMD LAMA2
19 muscular dystrophy, limb-girdle, type 1b 10.0 DAG1 DMD LAMA2
20 cerebral angioma 10.0 DAG1 DMD LAMA2
21 autosomal dominant nonsyndromic deafness 9.9 DAG1 DMD LAMA2
22 central corneal ulcer 9.9 DAG1 DMD LAMA2
23 hiatus hernia 9.9 DMD HMOX2
24 vestibulocochlear nerve disease 9.9 DMD HMOX2
25 muscular dystrophy, rigid spine, 1 9.9 DMD LAMA2
26 autosomal recessive nonsyndromic deafness 47 9.8 DAG1 DMD LAMA2 LDB3
27 cardiomyopathy, dilated, 1aa, with or without lvnc 9.8 DAG1 DMD LAMA2 LDB3
28 lipodystrophy, familial partial, 2 9.8 DAG1 DMD LAMA2 LDB3
29 parametrium malignant neoplasm 9.8 DMD LAMA2 MMP9
30 cdkl5-related angelman-like syndrome 9.7 DAG1 DMD LAMA2 LDB3 TNNT2
31 emery-dreifuss muscular dystrophy, dominant type 9.7 DAG1 DMD LAMA2 LDB3 TNNT2
32 cardiomyopathy, familial restrictive, 3 8.6 DAG1 DMD HMOX2 KCNH1 LAMA2 LAMB3

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 by clinical synopsis from OMIM:

601494

Clinical features from OMIM:

601494

Human phenotypes related to Cardiomyopathy, Dilated, 1d:

32
id Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 left ventricular hypertrophy 32 HP:0001712
3 dilated cardiomyopathy 32 HP:0001644
4 atrial fibrillation 32 HP:0005110
5 left ventricular noncompaction 32 HP:0030682

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

26
id 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 PPP2R5A HMOX2 LAMB3
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 PPP2R5A HMOX2
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DAG1 DMD HMOX2 KCNH1 LAMA2 LDB3
2 digestive/alimentary MP:0005381 9.55 DMD HMOX2 LAMB3 LDB3 MMP9
3 muscle MP:0005369 9.5 DAG1 DMD HMOX2 LAMA2 LDB3 MMP9
4 respiratory system MP:0005388 9.02 HMOX2 LAMB3 LDB3 MMP9 DMD

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:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 6 29 24 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1d

Variations for Cardiomyopathy, Dilated, 1d

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

66
id 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
id 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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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