MCID: DLT017
MIFTS: 13

Dilated Cardiomyopathy 1t

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

Aliases & Classifications for Dilated Cardiomyopathy 1t

MalaCards integrated aliases for Dilated Cardiomyopathy 1t:

Name: Dilated Cardiomyopathy 1t 12 29 6
Cardiomyopathy, Dilated, 1t 13 73
Cardiomyopathy, Dilated, Type 1t 40
Cmd1t 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110452
ICD10 33 I42.0
UMLS 73 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 29 TMPO

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
# 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.1538delT (p.Leu513Argfs) deletion Uncertain significance rs1085307099 GRCh37 Chromosome 12, 98927573: 98927573
4 TMPO NM_003276.2(TMPO): c.1538delT (p.Leu513Argfs) deletion Uncertain significance rs1085307099 GRCh38 Chromosome 12, 98533795: 98533795
5 TMPO NM_003276.2(TMPO): c.1298G> C (p.Ser433Thr) single nucleotide variant Uncertain significance rs1060499573 GRCh38 Chromosome 12, 98533555: 98533555
6 TMPO NM_003276.2(TMPO): c.1298G> C (p.Ser433Thr) single nucleotide variant Uncertain significance rs1060499573 GRCh37 Chromosome 12, 98927333: 98927333
7 TMPO NG_021393.1: g.17306G> A single nucleotide variant Benign/Likely benign rs943754313 GRCh37 Chromosome 12, 98921656: 98921656
8 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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