ARVD2
MCID: ARR030
MIFTS: 41

Arrhythmogenic Right Ventricular Dysplasia 2 (ARVD2) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 2:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 54 12 13 14
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 66 29 69
Arrhythmogenic Right Ventricular Cardiomyopathy 2 12 66
Arvc2 12 66
Arvd2 12 66
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12

Characteristics:

HPO:

32
arrhythmogenic right ventricular dysplasia 2:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



External Ids:

OMIM 54 600996
Disease Ontology 12 DOID:0110071
ICD10 33 I42.8
MedGen 40 C1832931
MeSH 42 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

UniProtKB/Swiss-Prot : 66 Arrhythmogenic right ventricular dysplasia, familial, 2: 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 2, also known as arrhythmogenic right ventricular dysplasia, familial, 2, is related to arrhythmogenic right ventricular dysplasia 1 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 2, and has symptoms including ventricular arrhythmia, right ventricular cardiomyopathy and effort-induced polymorphic ventricular tachycardias. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Spironolactone and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is muscle.

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.

Description from OMIM: 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia 2:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia 2

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia 2

Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

32
id Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 32 HP:0004308
2 right ventricular cardiomyopathy 32 HP:0011663
3 effort-induced polymorphic ventricular tachycardias 32 HP:0004758
4 ventricular aneurysm 32 HP:0006698

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CASQ2 JUP RYR1 RYR2 RYR3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

Drugs for Arrhythmogenic Right Ventricular Dysplasia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
2
Eplerenone Approved Phase 3 107724-20-9 150310 443872
3 diuretics Phase 3
4 Natriuretic Agents Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Diuretics, Potassium Sparing Phase 3,Phase 1,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
9 Mineralocorticoid Receptor Antagonists Phase 3
10 Mineralocorticoids Phase 3
11 Sodium Channel Blockers Phase 1, Phase 2
12 Anti-Arrhythmia Agents 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 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
4 Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac Disease Unknown status NCT01767220
5 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018
6 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
7 Mayo AVC Registry and BioBank Enrolling by invitation NCT03049254

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 29

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia 2:

39
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia 2

Variations for Arrhythmogenic Right Ventricular Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

66
id Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Asn2386Ile VAR_011398 rs121918601
3 RYR2 p.Arg176Gln VAR_044087 rs794728708
4 RYR2 p.Thr2504Met VAR_044096 rs769219555

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 GRCh37 Chromosome 1, 237804238: 237804238

Expression for Arrhythmogenic Right Ventricular Dysplasia 2

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia 2.

Pathways for Arrhythmogenic Right Ventricular Dysplasia 2

Pathways related to Arrhythmogenic Right Ventricular Dysplasia 2 according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 RYR1 RYR2 RYR3
2
Show member pathways
12.41 RYR1 RYR2 RYR3
3
Show member pathways
12.37 RYR1 RYR2 RYR3
4
Show member pathways
12.32 RYR1 RYR2 RYR3
5
Show member pathways
12.13 RYR1 RYR2 RYR3
6
Show member pathways
12.07 RYR1 RYR2 RYR3
7
Show member pathways
12.05 CASQ2 RYR1 RYR2 RYR3
8
Show member pathways
11.85 RYR1 RYR2 RYR3
9 11.7 RYR1 RYR2 RYR3
10 11.64 RYR1 RYR2 RYR3
11 11.08 CASQ2 JUP RYR2
12 10.82 RYR1 RYR2 RYR3
13 9.91 RYR1 RYR2 RYR3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia 2

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.54 CASQ2 JUP RYR2
2 smooth endoplasmic reticulum GO:0005790 9.43 RYR1 RYR2
3 cell GO:0005623 9.43 RYR1 RYR2 RYR3
4 calcium channel complex GO:0034704 9.4 CASQ2 RYR2
5 junctional sarcoplasmic reticulum membrane GO:0014701 9.33 CASQ2 RYR1 RYR2
6 junctional membrane complex GO:0030314 9.32 CASQ2 RYR1
7 sarcoplasmic reticulum GO:0016529 9.26 CASQ2 RYR1 RYR2 RYR3
8 sarcoplasmic reticulum membrane GO:0033017 8.92 CASQ2 RYR1 RYR2 RYR3

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia 2 according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.77 RYR1 RYR2 RYR3
3 calcium ion transport GO:0006816 9.67 RYR1 RYR2 RYR3
4 calcium ion transmembrane transport GO:0070588 9.63 RYR1 RYR2 RYR3
5 ion transmembrane transport GO:0034220 9.62 CASQ2 RYR1 RYR2 RYR3
6 protein homotetramerization GO:0051289 9.58 RYR1 RYR3
7 cellular response to calcium ion GO:0071277 9.58 RYR1 RYR3
8 skin development GO:0043588 9.57 JUP RYR1
9 cardiac muscle contraction GO:0060048 9.56 CASQ2 RYR2
10 regulation of cytosolic calcium ion concentration GO:0051480 9.55 RYR1 RYR2
11 regulation of heart rate GO:0002027 9.54 CASQ2 RYR2
12 cellular calcium ion homeostasis GO:0006874 9.54 RYR1 RYR2 RYR3
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.52 CASQ2 RYR2
14 detection of calcium ion GO:0005513 9.51 CASQ2 RYR2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.48 JUP RYR2
16 response to caffeine GO:0031000 9.43 RYR1 RYR2
17 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.4 RYR1 RYR2
18 release of sequestered calcium ion into cytosol GO:0051209 9.33 RYR1 RYR2 RYR3
19 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.26 CASQ2 RYR2
20 regulation of cardiac conduction GO:1903779 9.26 CASQ2 RYR1 RYR2 RYR3
21 cellular response to caffeine GO:0071313 8.92 CASQ2 RYR1 RYR2 RYR3

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 CASQ2 RYR1 RYR2 RYR3
2 calmodulin binding GO:0005516 9.54 RYR1 RYR2 RYR3
3 calcium channel activity GO:0005262 9.43 RYR1 RYR2 RYR3
4 ion channel activity GO:0005216 9.4 RYR1 RYR2
5 calcium-release channel activity GO:0015278 9.33 RYR1 RYR2 RYR3
6 ryanodine-sensitive calcium-release channel activity GO:0005219 9.13 RYR1 RYR2 RYR3
7 calcium-induced calcium release activity GO:0048763 8.8 RYR1 RYR2 RYR3

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

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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