MCID: ARR030
MIFTS: 27

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Genetic diseases (common), Cardiovascular diseases categories

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 2:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 49 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 65 67
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 24
 
Arrhythmogenic Right Ventricular Cardiomyopathy 2 67
Arvd2 67
Arvc2 67


Classifications:



External Ids:

OMIM49 600996
MedGen34 C1832931
MeSH36 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

About this section
UniProtKB/Swiss-Prot:67 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 cardiomyopathy and cardiomyopathy, and has symptoms including sudden death, ventricular arrhythmia and effort-induced polymorphic ventricular tachycardias. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (Ryanodine Receptor 2 (Cardiac)). Affiliated tissues include heart and testes.

Description from OMIM:49 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Diseases related to Arrhythmogenic Right Ventricular Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular cardiomyopathy10.2
2cardiomyopathy10.2
3arrhythmogenic right ventricular dysplasia 110.1
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.1

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

HPO human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Description Frequency HPO Source Accession
1 sudden death HP:0001699
2 ventricular arrhythmia HP:0004308
3 effort-induced polymorphic ventricular tachycardias HP:0004758
4 ventricular aneurysm HP:0006698
5 right ventricular cardiomyopathy HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EplerenoneapprovedPhase 387107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
2MineralocorticoidsPhase 3294

Interventional clinical trials:

idNameStatusNCT IDPhase
1PHOspholamban RElated CArdiomyopathy STudy - InterventionRecruitingNCT01857856Phase 3
2Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
3Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseRecruitingNCT01767220

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 224

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

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

33
Heart, Testes

Animal Models for Arrhythmogenic Right Ventricular Dysplasia 2 or affiliated genes

About this section

Publications for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Variations for Arrhythmogenic Right Ventricular Dysplasia 2

About this section

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

67
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Asn2386IleVAR_011398
3RYR2p.Arg176GlnVAR_044087
4RYR2p.Thr2504MetVAR_044096

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile)single nucleotide variantPathogenicrs121918601GRCh37Chr 1, 237804238: 237804238
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

About this section

Sources for Arrhythmogenic Right Ventricular Dysplasia 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet