MCID: CRD108
MIFTS: 18

Cardiomyopathy, Dilated, 1bb

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1bb

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1bb:

Name: Cardiomyopathy, Dilated, 1bb 57 13 73
Dilated Cardiomyopathy 1bb 12 29 6
Cmd1bb 57 12 75
Cardiomyopathy, Dilated, Type 1bb 40
Cardiomyopathy, Dilated 1bb 75

Classifications:



External Ids:

OMIM 57 612877
Disease Ontology 12 DOID:0110458
ICD10 33 I42.0
MedGen 42 C2752072
MeSH 44 D002311
SNOMED-CT via HPO 69 195021004 399020009
UMLS 73 C2752072

Summaries for Cardiomyopathy, Dilated, 1bb

UniProtKB/Swiss-Prot : 75 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 dilated cardiomyopathy 1bb. An important gene associated with Cardiomyopathy, Dilated, 1bb is DSG2 (Desmoglein 2). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

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:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 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 29 DSG2

Anatomical Context for Cardiomyopathy, Dilated, 1bb

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1bb

Variations for Cardiomyopathy, Dilated, 1bb

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

6
(show all 12)
# 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.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
3 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Likely pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
4 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Likely pathogenic rs553299589 GRCh37 Chromosome 18, 29101207: 29101207
5 DSG2 NM_001943.4(DSG2): c.3059_3062delAGAG (p.Glu1020Alafs) deletion Pathogenic/Likely pathogenic rs794728096 GRCh37 Chromosome 18, 29126408: 29126411
6 DSG2 NM_001943.4(DSG2): c.3059_3062delAGAG (p.Glu1020Alafs) deletion Pathogenic/Likely pathogenic rs794728096 GRCh38 Chromosome 18, 31546445: 31546448
7 DSG2 NM_001943.4(DSG2): c.1525G> A (p.Asp509Asn) single nucleotide variant Uncertain significance rs753406968 GRCh38 Chromosome 18, 31536303: 31536303
8 DSG2 NM_001943.4(DSG2): c.1525G> A (p.Asp509Asn) single nucleotide variant Uncertain significance rs753406968 GRCh37 Chromosome 18, 29116266: 29116266
9 DSG2 NM_001943.4(DSG2): c.527C> T (p.Thr176Ile) single nucleotide variant Uncertain significance rs536617217 GRCh37 Chromosome 18, 29102049: 29102049
10 DSG2 NM_001943.4(DSG2): c.527C> T (p.Thr176Ile) single nucleotide variant Uncertain significance rs536617217 GRCh38 Chromosome 18, 31522086: 31522086
11 DSG2 NM_001943.4(DSG2): c.2955delT (p.Val986Trpfs) deletion Pathogenic/Likely pathogenic rs1064794709 GRCh38 Chromosome 18, 31546341: 31546341
12 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
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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