CMD1BB
MCID: CRD108
MIFTS: 19

Cardiomyopathy, Dilated, 1bb (CMD1BB)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1bb

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1bb:

Name: Cardiomyopathy, Dilated, 1bb 58 13 74
Dilated Cardiomyopathy 1bb 12 30 6
Cmd1bb 58 12 76
Cardiomyopathy, Dilated, Type 1bb 41
Cardiomyopathy, Dilated 1bb 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0110458
OMIM 58 612877
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2752072
SNOMED-CT via HPO 70 195021004 399020009
UMLS 74 C2752072

Summaries for Cardiomyopathy, Dilated, 1bb

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1bb:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

612877

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 30 DSG2

Anatomical Context for Cardiomyopathy, Dilated, 1bb

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1bb

Articles related to Cardiomyopathy, Dilated, 1bb:

# Title Authors Year
1
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. ( 18678517 )
2008
2
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. ( 17105751 )
2007

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 Pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
4 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Pathogenic rs553299589 GRCh37 Chromosome 18, 29101207: 29101207
5 DSG2 NM_001943.4(DSG2): c.3059_3062delAGAG (p.Glu1020Alafs) deletion Pathogenic/Likely pathogenic rs397516706 GRCh37 Chromosome 18, 29126408: 29126411
6 DSG2 NM_001943.4(DSG2): c.3059_3062delAGAG (p.Glu1020Alafs) deletion Pathogenic/Likely pathogenic rs397516706 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 GRCh38 Chromosome 18, 31522086: 31522086
10 DSG2 NM_001943.4(DSG2): c.527C> T (p.Thr176Ile) single nucleotide variant Uncertain significance rs536617217 GRCh37 Chromosome 18, 29102049: 29102049
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 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
Content
Loading form....