MCID: ARR030
MIFTS: 29

Arrhythmogenic Right Ventricular Dysplasia 2 malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 2

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 2:

Name: Arrhythmogenic Right Ventricular Dysplasia 2 51 11 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 69 26 67
Arrhythmogenic Right Ventricular Cardiomyopathy 2 11 69
 
Arvd2 11 69
Arvc2 11 69
Familial Arrhythmogenic Right Ventricular Dysplasia 2 11

Characteristics:

HPO:

63
arrhythmogenic right ventricular dysplasia 2:
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM51 600996
Disease Ontology11 DOID:0110071
ICD1029 I42.8
MedGen36 C1832931
MeSH38 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

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UniProtKB/Swiss-Prot:69 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, effort-induced polymorphic ventricular tachycardias and ventricular aneurysm. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 2 is RYR2 (Ryanodine Receptor 2). Affiliated tissues include heart and testes.

Disease Ontology:11 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:51 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 2

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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 dysplasia 110.9
2arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.8
3arrhythmogenic right ventricular cardiomyopathy10.0
4cardiomyopathy10.0

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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Symptoms by clinical synopsis from OMIM:

600996

Clinical features from OMIM:

600996

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 2:

 63
id Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia63 HP:0004308
2 effort-induced polymorphic ventricular tachycardias63 HP:0004758
3 ventricular aneurysm63 HP:0006698
4 right ventricular cardiomyopathy63 HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 2

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 32221952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2
EplerenoneapprovedPhase 394107724-20-9150310, 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
3MineralocorticoidsPhase 3352
4Natriuretic AgentsPhase 31645
5Mineralocorticoid Receptor AntagonistsPhase 3333
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
7Diuretics, Potassium SparingPhase 3, Phase 1, Phase 21827
8diureticsPhase 31372
9Hormone AntagonistsPhase 312778
10HormonesPhase 313979
11Sodium Channel BlockersPhase 1, Phase 21515
12Anti-Arrhythmia AgentsPhase 1, Phase 22969

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
3Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2
4Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseUnknown statusNCT01767220

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 2

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 2

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 2:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 226

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

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

35
Heart, Testes

Animal Models for Arrhythmogenic Right Ventricular Dysplasia 2 or affiliated genes

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Publications for Arrhythmogenic Right Ventricular Dysplasia 2

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Variations for Arrhythmogenic Right Ventricular Dysplasia 2

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

69
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395rs121918602
2RYR2p.Asn2386IleVAR_011398rs121918601
3RYR2p.Arg176GlnVAR_044087rs794728708
4RYR2p.Thr2504MetVAR_044096rs769219555

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)SNVPathogenicrs121918601GRCh37Chr 1, 237804238: 237804238
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)SNVPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 2

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Sources for Arrhythmogenic Right Ventricular Dysplasia 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet