MCID: ARR040
MIFTS: 28

Arrhythmogenic Right Ventricular Dysplasia 10 malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia 10

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Dysplasia 10:

Name: Arrhythmogenic Right Ventricular Dysplasia 10 52 11 12
Arrhythmogenic Right Ventricular Cardiomyopathy 10 11 70 27
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 70 68
 
Arvd10 11 70
Arvc10 11 70
Familial Arrhythmogenic Right Ventricular Dysplasia 10 11

Characteristics:

HPO:

64
arrhythmogenic right ventricular dysplasia 10:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 610193
Disease Ontology11 DOID:0110081
ICD1030 I42.8
MedGen37 C1857777
MeSH39 D019571

Summaries for Arrhythmogenic Right Ventricular Dysplasia 10

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UniProtKB/Swiss-Prot:70 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, palpitations and ventricular tachycardia. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia 10 is DSG2 (Desmoglein 2). Affiliated tissues include heart and testes.

Disease Ontology:11 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.

Description from OMIM:52 610193

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia 10

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

idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 110.9
2arrhythmogenic right ventricular dysplasia/cardiomyopathy1010.8

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia 10

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Symptoms by clinical synopsis from OMIM:

610193

Clinical features from OMIM:

610193

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia 10:

 64
id Description HPO Frequency HPO Source Accession
1 sudden cardiac death64 HP:0001645
2 palpitations64 HP:0001962
3 ventricular tachycardia64 HP:0004756
4 ventricular extrasystoles64 HP:0006682
5 right ventricular cardiomyopathy64 HP:0011663

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia 10

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Drugs for Arrhythmogenic Right Ventricular Dysplasia 10 (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
3T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
4Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) PatientsTerminatedNCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia 10

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia 10

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia 10:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1027

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia 10

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

36
Heart, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia 10

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Variations for Arrhythmogenic Right Ventricular Dysplasia 10

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

70
id Symbol AA change Variation ID SNP ID
1DSG2p.Arg46GlnVAR_029365rs121913008
2DSG2p.Arg49HisVAR_029366rs121913006
3DSG2p.Cys507TyrVAR_029367rs121913009
4DSG2p.Gly812CysVAR_029368rs121913010
5DSG2p.Thr335AlaVAR_065686rs191564916

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia 10:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1DSG2NM_001943.4(DSG2): c.146G> A (p.Arg49His)SNVLikely pathogenic, Pathogenicrs121913006GRCh37Chr 18, 29099830: 29099830
2DSG2NM_001943.4(DSG2): c.918G> A (p.Trp306Ter)SNVPathogenicrs121913007GRCh37Chr 18, 29104755: 29104755
3DSG2NM_001943.4(DSG2): c.137G> A (p.Arg46Gln)SNVLikely pathogenic, Pathogenicrs121913008GRCh37Chr 18, 29099821: 29099821
4DSG2NM_001943.4(DSG2): c.1520G> A (p.Cys507Tyr)SNVPathogenicrs121913009GRCh37Chr 18, 29116261: 29116261
5DSG2NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys)SNVLikely pathogenic, Pathogenicrs121913010GRCh37Chr 18, 29125783: 29125783
6DSG2NM_001943.4(DSG2): c.797A> G (p.Asn266Ser)SNVPathogenicrs121913011GRCh37Chr 18, 29104517: 29104517
7DSG2NM_001943.4(DSG2): c.991G> A (p.Glu331Lys)SNVPathogenicrs121913012GRCh37Chr 18, 29104828: 29104828
8DSG2NM_001943.4(DSG2): c.1880-2A> GSNVLikely pathogenic, Pathogenicrs397514038GRCh37Chr 18, 29121154: 29121154
9DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)SNVPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
10DSG2NM_001943.4(DSG2): c.1750C> T (p.Gln584Ter)SNVPathogenicrs794728086GRCh38Chr 18, 31538849: 31538849
11DSG2NM_001943.4(DSG2): c.523+2T> CSNVLikely pathogenic, Pathogenicrs397516709GRCh37Chr 18, 29101208: 29101208

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 10

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 10

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia 10

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Sources for Arrhythmogenic Right Ventricular Dysplasia 10

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet