MCID: CRD108
MIFTS: 18

Cardiomyopathy, Dilated, 1bb

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1bb

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1bb:

Name: Cardiomyopathy, Dilated, 1bb 53 13 69
Cmd1bb 53 12 71
Dilated Cardiomyopathy 1bb 12 28
Cardiomyopathy, Dilated 1bb 71

Classifications:



External Ids:

OMIM 53 612877
Disease Ontology 12 DOID:0110458
ICD10 32 I42.0
MedGen 39 C2752072
MeSH 41 D002311
SNOMED-CT via HPO 65 195021004 399020009
UMLS 69 C2752072

Summaries for Cardiomyopathy, Dilated, 1bb

UniProtKB/Swiss-Prot : 71 Cardiomyopathy, dilated 1BB: 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, 1bb, is also known as cmd1bb, and has symptoms including dilated cardiomyopathy An important gene associated with Cardiomyopathy, Dilated, 1bb is DSG2 (Desmoglein 2). Affiliated tissues include heart.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation the DSG2 gene on chromosome 18q12.1.

Description from OMIM: 612877

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1bb

Clinical features from OMIM:

612877

Human phenotypes related to Cardiomyopathy, Dilated, 1bb:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1bb

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

Genetic Tests for Cardiomyopathy, Dilated, 1bb

Genetic tests related to Cardiomyopathy, Dilated, 1bb:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1bb 28 DSG2

Anatomical Context for Cardiomyopathy, Dilated, 1bb

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1bb

Variations for Cardiomyopathy, Dilated, 1bb

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
2 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
3 DSG2 NM_001943.4(DSG2): c.3059_3062delAGAG (p.Glu1020Alafs) deletion Pathogenic/Likely pathogenic rs794728096 GRCh37 Chromosome 18, 29126408: 29126411
4 DSG2 NM_001943.4(DSG2): c.2955delT (p.Val986Trpfs) deletion Pathogenic/Likely pathogenic rs1064794709 GRCh37 Chromosome 18, 29126304: 29126304

Expression for Cardiomyopathy, Dilated, 1bb

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

Pathways for Cardiomyopathy, Dilated, 1bb

GO Terms for Cardiomyopathy, Dilated, 1bb

Sources for Cardiomyopathy, Dilated, 1bb

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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