MCID: ARR030
MIFTS: 26

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 50 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 68 25 66
Arrhythmogenic Right Ventricular Cardiomyopathy 2 68
 
Arvd2 68
Arvc2 68

Characteristics:

HPO:

62
arrhythmogenic right ventricular dysplasia 2:
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 600996
MedGen35 C1832931
MeSH37 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 2

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UniProtKB/Swiss-Prot:68 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/cardiomyopathy 2 and arrhythmogenic right ventricular cardiomyopathy, 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.

Description from OMIM:50 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/cardiomyopathy 211.0
2arrhythmogenic right ventricular cardiomyopathy10.1
3cardiomyopathy10.1
4arrhythmogenic right ventricular dysplasia 110.0

Symptoms for Arrhythmogenic Right Ventricular Dysplasia 2

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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 ventricular arrhythmia HP:0004308
2 effort-induced polymorphic ventricular tachycardias HP:0004758
3 ventricular aneurysm HP:0006698
4 right ventricular cardiomyopathy 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactonePhase 32171952-01-7, 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
EplerenonePhase 392107724-20-9150310, 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
3diureticsPhase 31338
4
FlecainidePhase 1, Phase 24154143-55-43356
Synonyms:
(+-)-Flecainide
54143-55-4
54143-56-5 (monoacetate)
99495-87-1
AB00513907
AC-16019
AC1L1FQZ
BCBcMAP01_000189
BPBio1_000760
BRD-A09472452-001-02-8
BRD-A09472452-015-03-6
BSPBio_000690
BSPBio_001317
Bio1_000375
Bio1_000864
Bio1_001353
Bio2_000037
Bio2_000517
C07001
C17H20F6N2O3
CCRIS 313
CHEBI:127588
CHEMBL652
CID3356
D07962
DB01195
Flecaine
Flecainida
Flecainida [INN-Spanish]
Flecainide (INN)
Flecainide [INN:BAN]
Flecainide acetate
Flecainidum
 
Flecainidum [INN-Latin]
HMS1791B19
HMS1989B19
HMS2089E17
IDI1_033787
KBio2_000037
KBio2_002605
KBio2_005173
KBio3_000073
KBio3_000074
KBioGR_000037
KBioSS_000037
LS-27388
Lopac0_000546
MolPort-003-847-380
N-(2-Piperidinylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis[(2,2,2-trifluoroethyl)oxy]benzamide
NCGC00025175-03
NCGC00025175-04
NCGC00025175-05
NCGC00025175-06
NSC719273
Prestwick0_000735
Prestwick1_000735
Prestwick2_000735
Prestwick3_000735
R818
SMP1_000074
SPBio_002629
TL80090300
Tambocor
UNII-K94FTS1806
flecainide

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 DiseaseRecruitingNCT01767220

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, 225

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 2

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

34
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:

68
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)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

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet