CMD1BB
MCID: CRD108
MIFTS: 23

Cardiomyopathy, Dilated, 1bb (CMD1BB)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1bb

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1bb:

Name: Cardiomyopathy, Dilated, 1bb 57 13 70
Dilated Cardiomyopathy 1bb 12 29 6
Cmd1bb 57 12 72
Cardiomyopathy, Dilated, Type 1bb 39
Cardiomyopathy, Dilated 1bb 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0110458
OMIM® 57 612877
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2752072
SNOMED-CT via HPO 68 195021004 399020009
UMLS 70 C2752072

Summaries for Cardiomyopathy, Dilated, 1bb

UniProtKB/Swiss-Prot : 72 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, also known as dilated cardiomyopathy 1bb, is related to arrhythmogenic right ventricular dysplasia, familial, 10 and cardiac conduction defect. 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.

More information from OMIM: 612877 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1bb

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1bb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 10 9.7 DSG2-AS1 DSG2
2 cardiac conduction defect 9.7 DSG2-AS1 DSG2
3 restrictive cardiomyopathy 9.7 DSG2-AS1 DSG2
4 atrial standstill 1 9.7 DSG2-AS1 DSG2
5 arrhythmogenic right ventricular cardiomyopathy 9.6 DSG2-AS1 DSG2
6 dilated cardiomyopathy 9.6 DSG2-AS1 DSG2
7 familial isolated dilated cardiomyopathy 9.5 DSG2-AS1 DSG2

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1bb:



Diseases related to Cardiomyopathy, Dilated, 1bb

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1bb

Human phenotypes related to Cardiomyopathy, Dilated, 1bb:

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

Clinical features from OMIM®:

612877 (Updated 20-May-2021)

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:

40
Heart

Publications for Cardiomyopathy, Dilated, 1bb

Articles related to Cardiomyopathy, Dilated, 1bb:

# Title Authors PMID Year
1
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. 57 6
18678517 2008
2
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. 6
17105751 2007

Variations for Cardiomyopathy, Dilated, 1bb

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.2955del (p.Val986fs) Deletion Pathogenic 420800 rs1064794709 GRCh37: 18:29126303-29126303
GRCh38: 18:31546340-31546340
2 DSG2 NM_001943.5(DSG2):c.523+1G>C SNV Pathogenic 188450 rs553299589 GRCh37: 18:29101207-29101207
GRCh38: 18:31521244-31521244
3 DSG2 NM_001943.5(DSG2):c.166G>A (p.Val56Met) SNV risk factor 16818 rs121913013 GRCh37: 18:29099850-29099850
GRCh38: 18:31519887-31519887
4 DSG2-AS1 , DSG2 NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) Microsatellite Likely pathogenic 199827 rs397516706 GRCh37: 18:29126404-29126407
GRCh38: 18:31546441-31546444
5 DSG2 NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) SNV Uncertain significance 417865 rs536617217 GRCh37: 18:29102049-29102049
GRCh38: 18:31522086-31522086
6 DSG2 NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) SNV Uncertain significance 228629 rs753406968 GRCh37: 18:29116266-29116266
GRCh38: 18:31536303-31536303
7 DSG2 NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) SNV Uncertain significance 1001605 GRCh37: 18:29111098-29111098
GRCh38: 18:31531135-31531135

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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