MCID: DLT017
MIFTS: 13

Dilated Cardiomyopathy 1t

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

Aliases & Classifications for Dilated Cardiomyopathy 1t

MalaCards integrated aliases for Dilated Cardiomyopathy 1t:

Name: Dilated Cardiomyopathy 1t 12 30 6
Cardiomyopathy, Dilated, 1t 13 74
Cardiomyopathy, Dilated, Type 1t 41
Cmd1t 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110452
ICD10 34 I42.0
UMLS 74 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, is also known as cardiomyopathy, dilated, 1t. An important gene associated with Dilated Cardiomyopathy 1t is TMPO (Thymopoietin).

Symptoms & Phenotypes for Dilated Cardiomyopathy 1t

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 30

Anatomical Context for Dilated Cardiomyopathy 1t

Publications for Dilated Cardiomyopathy 1t

Variations for Dilated Cardiomyopathy 1t

ClinVar genetic disease variations for Dilated Cardiomyopathy 1t:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh38 Chromosome 12, 98533534: 98533534
2 TMPO NM_003276.2(TMPO): c.1277C> T (p.Pro426Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141443652 GRCh37 Chromosome 12, 98927312: 98927312
3 TMPO NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17028450 GRCh37 Chromosome 12, 98928103: 98928103
4 TMPO NM_003276.2(TMPO): c.2068C> T (p.Arg690Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs17028450 GRCh38 Chromosome 12, 98534325: 98534325
5 TMPO NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu) single nucleotide variant Benign/Likely benign rs11838270 GRCh37 Chromosome 12, 98927281: 98927281
6 TMPO NM_003276.2(TMPO): c.1246A> G (p.Lys416Glu) single nucleotide variant Benign/Likely benign rs11838270 GRCh38 Chromosome 12, 98533503: 98533503
7 TMPO NM_003276.2(TMPO): c.1538delT (p.Leu513Argfs) deletion Uncertain significance rs1085307099 GRCh37 Chromosome 12, 98927573: 98927573
8 TMPO NM_003276.2(TMPO): c.1538delT (p.Leu513Argfs) deletion Uncertain significance rs1085307099 GRCh38 Chromosome 12, 98533795: 98533795
9 TMPO NM_003276.2(TMPO): c.1298G> C (p.Ser433Thr) single nucleotide variant Uncertain significance rs1060499573 GRCh38 Chromosome 12, 98533555: 98533555
10 TMPO NM_003276.2(TMPO): c.1298G> C (p.Ser433Thr) single nucleotide variant Uncertain significance rs1060499573 GRCh37 Chromosome 12, 98927333: 98927333
11 TMPO NG_021393.1: g.17306G> A single nucleotide variant Benign/Likely benign rs943754313 GRCh37 Chromosome 12, 98921656: 98921656
12 TMPO NG_021393.1: g.17306G> A single nucleotide variant Benign/Likely benign rs943754313 GRCh38 Chromosome 12, 98527878: 98527878

Expression for Dilated Cardiomyopathy 1t

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

Pathways for Dilated Cardiomyopathy 1t

GO Terms for Dilated Cardiomyopathy 1t

Sources for Dilated Cardiomyopathy 1t

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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