ARVD10
MCID: ARR040
MIFTS: 27

Arrhythmogenic Right Ventricular Dysplasia 10 (ARVD10) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 10

Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 10:

Name: Arrhythmogenic Right Ventricular Dysplasia 10 54 12 13
Arrhythmogenic Right Ventricular Cardiomyopathy 10 12 66 29
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 66 69
Arvc10 12 66
Arvd10 12 66
Familial Arrhythmogenic Right Ventricular Dysplasia 10 12

Characteristics:

HPO:

32
arrhythmogenic right ventricular dysplasia 10:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 610193
Disease Ontology 12 DOID:0110081
ICD10 33 I42.8
MedGen 40 C1857777
MeSH 42 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 10

UniProtKB/Swiss-Prot : 66 Arrhythmogenic right ventricular dysplasia, familial, 10: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia 10, also known as arrhythmogenic right ventricular cardiomyopathy 10, is related to arrhythmogenic right ventricular dysplasia 1 and arrhythmogenic right ventricular dysplasia/cardiomyopathy10, and has symptoms including sudden cardiac death, ventricular tachycardia and ventricular extrasystoles. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 10 is DSG2 (Desmoglein 2). The drugs Eplerenone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart.

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.

Description from OMIM: 610193

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 10

Diseases related to Arrhythmogenic Right Ventricular Dysplasia 10 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia 1 10.9
2 arrhythmogenic right ventricular dysplasia/cardiomyopathy10 10.8

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia 10

Symptoms by clinical synopsis from OMIM:

610193

Clinical features from OMIM:

610193

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 10:

32
id Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 ventricular tachycardia 32 HP:0004756
3 ventricular extrasystoles 32 HP:0006682
4 palpitations 32 HP:0001962
5 right ventricular cardiomyopathy 32 HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 10

Drugs for Arrhythmogenic Right Ventricular Dysplasia 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 3 107724-20-9 150310 443872
2
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
3 diuretics Phase 3
4 Diuretics, Potassium Sparing Phase 3,Phase 1,Phase 2
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Mineralocorticoid Receptor Antagonists Phase 3
9 Mineralocorticoids Phase 3
10 Natriuretic Agents Phase 3
11 Anti-Arrhythmia Agents Phase 1, Phase 2
12 Sodium Channel Blockers Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 PHOspholamban RElated CArdiomyopathy STudy - Intervention Recruiting NCT01857856 Phase 3
2 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Recruiting NCT02302274 Phase 1, Phase 2
3 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829
4 Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Patients Terminated NCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 10

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 10

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 10:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 10

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia 10:

39
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia 10

Variations for Arrhythmogenic Right Ventricular Dysplasia 10

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 10:

66
id Symbol AA change Variation ID SNP ID
1 DSG2 p.Arg46Gln VAR_029365 rs121913008
2 DSG2 p.Arg49His VAR_029366 rs121913006
3 DSG2 p.Cys507Tyr VAR_029367 rs121913009
4 DSG2 p.Gly812Cys VAR_029368 rs121913010
5 DSG2 p.Thr335Ala VAR_065686 rs191564916

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 10:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh37 Chromosome 18, 29099830: 29099830
2 DSG2 NM_001943.4(DSG2): c.918G> A (p.Trp306Ter) single nucleotide variant Pathogenic rs121913007 GRCh37 Chromosome 18, 29104755: 29104755
3 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
4 DSG2 NM_001943.4(DSG2): c.1520G> A (p.Cys507Tyr) single nucleotide variant Pathogenic rs121913009 GRCh37 Chromosome 18, 29116261: 29116261
5 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913010 GRCh37 Chromosome 18, 29125783: 29125783
6 DSG2 NM_001943.4(DSG2): c.797A> G (p.Asn266Ser) single nucleotide variant Pathogenic rs121913011 GRCh37 Chromosome 18, 29104517: 29104517
7 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
8 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
9 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh37 Chromosome 18, 29101208: 29101208
10 DSG2 NM_001943.4(DSG2): c.1750C> T (p.Gln584Ter) single nucleotide variant Pathogenic rs794728086 GRCh38 Chromosome 18, 31538849: 31538849
11 DSG2 NM_001943.4(DSG2): c.690+1G> A single nucleotide variant Likely pathogenic rs750176752 GRCh38 Chromosome 18, 31522250: 31522250

Expression for Arrhythmogenic Right Ventricular Dysplasia 10

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia 10.

Pathways for Arrhythmogenic Right Ventricular Dysplasia 10

GO Terms for Arrhythmogenic Right Ventricular Dysplasia 10

Sources for Arrhythmogenic Right Ventricular Dysplasia 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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