MCID: DLT017
MIFTS: 22

Dilated Cardiomyopathy 1t

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dilated Cardiomyopathy 1t

MalaCards integrated aliases for Dilated Cardiomyopathy 1t:

Name: Dilated Cardiomyopathy 1t 12 29 6 15
Cardiomyopathy, Dilated, 1t 71
Cmd1t 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110452
ICD10 32 I42.0
UMLS 71 C3151039

Summaries for Dilated Cardiomyopathy 1t

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TMPO gene on chromosome 12q22.

MalaCards based summary : Dilated Cardiomyopathy 1t, also known as cardiomyopathy, dilated, 1t, is related to alagille syndrome 1 and aortic valve disease 1. An important gene associated with Dilated Cardiomyopathy 1t is TMPO (Thymopoietin), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. Affiliated tissues include heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Dilated Cardiomyopathy 1t

Symptoms & Phenotypes for Dilated Cardiomyopathy 1t

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

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10 F9 TMPO
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 10 TMPO
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 10 PCSK4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 10 PCSK4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 10 TMPO
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 10 PCSK4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10 PCSK4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 10 TMPO
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10 PCSK4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10 F9 PCSK4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10 PCSK4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10 TMPO
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 10 PCSK4
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10 F9
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10 TMPO
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10 PCSK4
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10 TMPO
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10 F9
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 10 F9
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10 F9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.5 SOX9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.5 PCSK4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.5 PCSK4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 PCSK4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.5 PCSK4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.5 CHML
27 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 CHML
28 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.5 CHML
29 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 SOX9
30 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.5 CHML
31 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.5 CHML
32 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.5 PCSK4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.5 PCSK4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 CHML
35 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.5 CHML

Drugs & Therapeutics for Dilated Cardiomyopathy 1t

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

Genetic Tests for Dilated Cardiomyopathy 1t

Genetic tests related to Dilated Cardiomyopathy 1t:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1t 29

Anatomical Context for Dilated Cardiomyopathy 1t

MalaCards organs/tissues related to Dilated Cardiomyopathy 1t:

40
Heart

Publications for Dilated Cardiomyopathy 1t

Variations for Dilated Cardiomyopathy 1t

ClinVar genetic disease variations for Dilated Cardiomyopathy 1t:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPO NM_003276.2(TMPO):c.1298G>C (p.Ser433Thr) SNV Uncertain significance 417871 rs1060499573 12:98927333-98927333 12:98533555-98533555
2 TMPO NM_003276.2(TMPO):c.1538del (p.Leu513fs) Deletion Uncertain significance 225494 rs1085307099 12:98927573-98927573 12:98533795-98533795
3 TMPO NM_001032283.3(TMPO):c.565+2487C>T SNV Uncertain significance 12707 rs17028450 12:98928103-98928103 12:98534325-98534325
4 TMPO NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) SNV Likely benign 192133 rs141443652 12:98927312-98927312 12:98533534-98533534
5 TMPO NM_003276.2(TMPO):c.280-8G>A SNV Benign/Likely benign 522273 rs943754313 12:98921656-98921656 12:98527878-98527878
6 TMPO NM_001032283.3(TMPO):c.565+1665A>G SNV Benign 44662 rs11838270 12:98927281-98927281 12:98533503-98533503

Expression for Dilated Cardiomyopathy 1t

Search GEO for disease gene expression data for Dilated Cardiomyopathy 1t.

Pathways for Dilated Cardiomyopathy 1t

Pathways related to Dilated Cardiomyopathy 1t according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 LRP5 JAG1

GO Terms for Dilated Cardiomyopathy 1t

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.32 LRP5 JAG1
2 somatic stem cell population maintenance GO:0035019 9.26 SOX9 LRP5
3 negative regulation of osteoblast differentiation GO:0045668 9.16 SOX9 LRP5
4 aortic valve morphogenesis GO:0003180 8.96 SOX9 JAG1
5 positive regulation of mesenchymal cell proliferation GO:0002053 8.62 SOX9 LRP5

Sources for Dilated Cardiomyopathy 1t

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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