ARVC
MCID: ARR042
MIFTS: 56

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 11 23 48 24 25 27 13
Arrhythmogenic Right Ventricular Dysplasia 11 23 48 24 25 50 39 68
Arvc 11 23 48 24 25
Arvd 11 23 48 24 25
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 11 23 24 25
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25 27
Ventricular Dysplasia, Right, Arrhythmogenic 25
Right Ventricular Dysplasia, Arrhythmogenic 25
Arvc Cardiomyopathy 11
Arvd/c 25

Characteristics:

GeneReviews:

23
Penetrance: in the single family with a pathogenic variant in dsp reported by rampazzo et al [2002], penetrance was estimated at 50%. other estimates of penetrance in kindreds with autosomal dominant arvd/c are as low as 20%-30% [sen-chowdhry et al 2005]...


Classifications:



External Ids:

Disease Ontology11 DOID:0050431
MeSH39 D019571
NCIt45 C84571

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section
NIH Rare Diseases:48 Arrhythmogenic right ventricular dysplasia (arvd) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. the condition is progressive and over time the right ventricle loses the ability to pump blood. individuals with arvd often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. other symptoms of arvd include chest palpitations, dizziness, fainting and shortness of breath. often, sudden cardiac death can be the first sign of arvd. arvd is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. there is also some evidence that arvd could be caused by an infection of the heart muscle. treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. last updated: 1/30/2013

MalaCards based summary: Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to arrhythmogenic right ventricular dysplasia 2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is TMEM43 (Transmembrane Protein 43), and among its related pathways are Cell-type Dependent Selectivity of CCK2R Signaling and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include heart, testes and pancreas, and related mouse phenotypes are craniofacial and embryo.

Disease Ontology:11 An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

Genetics Home Reference:25 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

Wikipedia:71 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart disease. more...

GeneReviews for NBK1131

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 232.3DSG2, RYR2
2arrhythmogenic right ventricular dysplasia/cardiomyopathy 912.3
3arrhythmogenic right ventricular dysplasia/cardiomyopathy 112.3
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 212.3
5arrhythmogenic right ventricular dysplasia/cardiomyopathy 312.3
6arrhythmogenic right ventricular dysplasia/cardiomyopathy 412.3
7arrhythmogenic right ventricular dysplasia/cardiomyopathy 512.3
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 612.3
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 712.3
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 812.3
11naxos disease12.0
12arrhythmogenic right ventricular dysplasia, familial, 1311.8
13myopathy, myofibrillar, 111.4
14arrhythmogenic right ventricular dysplasia 511.4
15arrhythmogenic right ventricular dysplasia 811.4
16arrhythmogenic right ventricular dysplasia 911.4
17arrhythmogenic right ventricular dysplasia 1211.4
18arrhythmogenic right ventricular dysplasia 1111.4
19arrhythmogenic right ventricular dysplasia 1011.4
20arrhythmogenic right ventricular dysplasia 111.3
21arrhythmogenic right ventricular dysplasia 311.2
22arrhythmogenic right ventricular dysplasia 411.2
23arrhythmogenic right ventricular dysplasia 611.2
24arrhythmogenic right ventricular dysplasia/cardiomyopathy1311.2
25familial isolated arrhythmogenic right ventricular dysplasia11.2
26cardiomyopathy11.1
27facio digito genital syndrome recessive form10.3DES, DMD
28codas syndrome10.3DSC2, DSP, JUP
29choanal atresia and lymphedema10.3DSC2, DSP, JUP
30branchiooculofacial syndrome10.3DSP, JUP
31right bundle branch block10.3
32cardiac sarcoidosis10.3
33lipoma10.3DSC2, DSP, JUP
34skin fragility-woolly hair syndrome10.3DSP, JUP
35sed, maroteaux type10.3DSC2, DSP, JUP
36klippel-feil syndrome 210.3DSC2, DSP, JUP, PKP2
37emery-dreifuss muscular dystrophy 7, ad10.3CDH2, CTNNB1, TMEM43
38dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.3DES, DMD
39folinic acid-responsive seizures10.3DSC2, DSG2, DSP
40pol iii-related leukodystrophies10.3DSG2, DSP, JUP
41spastic paraplegia 47, autosomal recessive10.3DSG2, RYR2
42gupta patton syndrome10.3DSP, JUP
43leukodystrophy, hypomyelinating, 210.3JUP, RYR1, RYR2
44sudden infant death syndrome10.2CDH2, CTNNB1, DSP, GJA1
45mosaic trisomy 110.2ACTN2, DSG2, DSP, LMNA
46retinitis pigmentosa 1810.2ACTN2, DSG2, DSP, LMNA
47brugada syndrome10.2
48epilepsy, generalized, with febrile seizures plus, type 110.2DES, RYR1, RYR2
49parametrium malignant neoplasm10.2DES, DMD, LMNA, TMEM43
50nonsyndromic hearing loss and deafness, mitochondrial10.2DES, DMD, TTN

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



Diseases related to arrhythmogenic right ventricular cardiomyopathy

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Cardiomyopathy

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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.9CTNNB1, DSP, GJA1, LMNA, RYR1, TGFB3
2MP:00053809.8CDH2, CTNNB1, DSP, GJA1, JUP, RYR2
3MP:00028739.6CTNNB1, DMD, GJA1, JUP, LMNA, RYR2
4MP:00053889.1CTNNB1, DMD, GJA1, JUP, LMNA, RYR1
5MP:00053769.0CDH2, CTNNB1, DES, DMD, GJA1, JUP
6MP:00053848.9CDH2, CTNNB1, DES, DMD, DSG2, DSP
7MP:00053698.9CDH2, CTNNA3, CTNNB1, DES, DMD, DSP
8MP:00053858.5CDH2, CTNNA3, CTNNB1, DES, DMD, DSC2
9MP:00107688.5CDH2, CTNNA3, CTNNB1, DES, DMD, DSG2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 32321952-01-7, 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 396107724-20-9150310, 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 3367
4Natriuretic AgentsPhase 31697
5Mineralocorticoid Receptor AntagonistsPhase 3346
6HormonesPhase 314415
7Diuretics, Potassium SparingPhase 3, Phase 1, Phase 21917
8Hormone AntagonistsPhase 313180
9diureticsPhase 31418
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
11Sodium Channel BlockersPhase 1, Phase 21593
12Anti-Arrhythmia AgentsPhase 1, Phase 23093
13
Isoproterenolapproved247683-59-23779
Synonyms:
(+)-Isoprenaline
(+)-Isoproterenol
(+-)-Isoprenaline
(+-)-Isoproterenol
(-)-Isoproterenol hydrochloride
(S)-(+)-Isoproterenol
(S)-Isoprenaline
(S)-Isoproterenol
(±)-isoprenaline
(±)-isoproterenol
.alpha.-(Isopropylaminomoethyl)protocatechuyl alcohol
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)- (9CI)
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)-, (S)- (9CI)
1-(3,4-Dihydroxyphenyl)-2-(isopropylamino)ethanol
1-(3,4-Dihydroxyphenyl)-2-isopropylaminoethanol
149-53-1
2964-04-7
3,4-Dihydroxy-.alpha.-(isopropylaminomethyl)-benzyl alcohol
3,4-Dihydroxy-.alpha.-[(isopropylamino)methyl]benzyl alcohol
3,4-Dihydroxy-alpha-((isopropylamino)methyl)benzyl alcohol
3,4-Dihydroxy-alpha-[(isopropylamino)methyl]benzyl alcohol
3-13-00-02387 (Beilstein Handbook Reference)
4-(1-Hydroxy-2(isopropylamino)ethyl)-benzene 1,2-diol
4-(1-Hydroxy-2-((1-methylethyl)amino)ethyl)-1,2-benzenediol
4-{1-hydroxy-2-[(1-methylethyl)amino]ethyl}benzene-1,2-diol
46388-38-9
7683-59-2
AC1L1GOZ
AC1Q1QBS
Aerolone
Aleudrin
Aleudrine
Aludrin
Aludrine
Asiprenol
Asmalar
Assiprenol
BRN 2213857
BSPBio_002208
Bellasthman
Bronkephrine
C07056
CCRIS 3081
CHEMBL434
CID3779
D08090
DB01064
DL(+-)-Isoproterenol
DL-Isopropylnorepinephrine
Dihydroxyphenylethanolisopropylamine
DivK1c_000894
EINECS 231-687-7
Epinephrine Isopropyl Homolog
Epinephrine isopropyl homolog
Euspiran
HMS2089A12
ICI 46399
IDI1_000894
IPA
ISOPROP
Isadrin
Isadrine
Isonorene
Isonorin
Isoprenalin
Isoprenalina
Isoprenalina [INN-Spanish]
Isoprenaline
Isoprenaline (INN)
Isoprenaline hydrochloride
Isoprenalinum
Isoprenalinum [INN-Latin]
Isopropydrin
Isopropyl noradrenaline
Isopropyladrenaline
Isopropylaminomethyl(3,4-dihydroxyphenyl)carbinol
Isopropylaminomethyl-3,4-dihydroxyphenyl carbinol
Isopropylarterenol
Isopropylnoradrenaline
Isopropylnorepinephrine
Isoproterenol
Isoproterenol Chloride
Isoproterenol HCl
Isoproterenol [JAN]
 
Isoproterenolum
Isorenin
Isuprel
Isuprel Mistometer
Isupren
Izadrin
KBio1_000894
KBio2_001429
KBio2_003997
KBio2_006565
KBio3_001428
KBioGR_000427
KBioSS_001429
L-Isopropylnoradrenaline
L-Isoproterenol
L000936
LS-42866
LS-42868
LS-42869
Lomupren
Lopac0_000711
Medihaler-ISO
Medihaler-Iso
MolPort-001-783-449
N-Isopropyl-beta-dihydroxyphenyl-beta-hydroxyethylamine
N-Isopropylnoradrenaline
N-Isopropylnorepinephrine
N-isopropyl-β-dihydroxyphenyl-β-hydroxyethylamine
NCGC00015558-08
NCGC00025274-03
NCGC00025274-04
NCGC00162220-01
NINDS_000894
NSC 33791
NSC 9975
NSC33791
NSC9975
Neo-Epinine
Neodrenal
Norisodrine
Norisodrine Aerotrol
Novodrin
Oprea1_009434
PDSP1_001425
PDSP2_001409
Prestwick0_001097
Prestwick1_001097
Prestwick2_001097
Proternol
Racemic isoprenaline
Racemic isoproterenol
Respifral
SGCUT00015
SPBio_001042
SPBio_003057
STOCK1N-00740
Saventrine
Spectrum2_001061
Spectrum3_000474
Spectrum4_000024
Spectrum5_000880
Spectrum_000949
UNII-L628TT009W
Vapo-Iso
Vapo-N-iso
WIN 5162
WLN: QR BQ DYQ1MY1&1
alpha-(Isopropylaminomethyl)protocatechuyl alcohol
d-Isoprenaline
d-Isopropylarterenol
d-Isoproterenol
d-N-Isopropylnorepinephrine
dl-Ipr
dl-Isadrine
dl-Isopropylnoradrenaline
dl-N-Isopropylnoradrenaline
isoproterenol
l-Isopropylnoradrenaline
l-Isoproterenol
nchembio.307-comp1
nchembio801-comp2
nchembio882-comp6
neo-Epinine
to_000062
α-(isopropylaminomethyl)protocatechuyl alcohol
14Neurotransmitter Agents18340
15Protective Agents7443
16Respiratory System Agents4997
17Peripheral Nervous System Agents23689
18Autonomic Agents10150
19Adrenergic Agents5352
20Adrenergic Agonists3027
21Adrenergic beta-Agonists1714
22Anti-Asthmatic Agents3488
23Bronchodilator Agents2965

Interventional clinical trials:

(show all 21)
idNameStatusNCT IDPhase
1PHOspholamban RElated CArdiomyopathy STudy - InterventionRecruitingNCT01857856Phase 3
2Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
3Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
4Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2
5Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesUnknown statusNCT00221832
6Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseUnknown statusNCT01767220
7T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseUnknown statusNCT02350829
8Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyCompletedNCT00999947
9Multidisciplinary Study of Right Ventricular DysplasiaCompletedNCT00024505
10The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)CompletedNCT02291393
11Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular CardiomyopathyCompletedNCT00083395
12DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/DysplasiaRecruitingNCT03177018
13PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVCRecruitingNCT02989480
14Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207
15An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in ChinaRecruitingNCT03076580
16Metabolomic Study of All-age CardiomyopathyRecruitingNCT03061994
17Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
18German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
19National ARVC DATA Registry and Bio BankEnrolling by invitationNCT01804699
20Mayo AVC Registry and BioBankEnrolling by invitationNCT03049254
21Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) PatientsTerminatedNCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Cardiomyopathy


Cochrane evidence based reviews: arrhythmogenic right ventricular dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Cardiomyopathy

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Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy27
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy27 24 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

36
Heart, Testes, Pancreas, Brain

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy. (28253841)
2017
2
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. (28523642)
2017
3
Characterization of the arrhythmogenic substrate in patients with arrhythmogenic right ventricular cardiomyopathy undergoing ventricular tachycardia ablation. (28371837)
2017
4
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. (28431055)
2017
5
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. (28471438)
2017
6
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. (28431057)
2017
7
Surgical Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy with Absent Pulmonary Valve. (28524842)
2017
8
Should epsilon wave be considered as a major diagnostic criterion in arrhythmogenic right ventricular cardiomyopathy? (28326523)
2017
9
Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome. (28329361)
2017
10
Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. (28256248)
2017
11
Arrhythmogenic Right Ventricular Cardiomyopathy. (28402769)
2017
12
Systematic review: Impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (28342631)
2017
13
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. (28067540)
2017
14
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. (28527814)
2017
15
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. (28280076)
2017
16
Arrhythmogenic Right Ventricular Cardiomyopathy. (28406281)
2017
17
Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl. (28373789)
2017
18
Arrhythmogenic Right Ventricular Cardiomyopathy. (28052233)
2017
19
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors? (28465114)
2017
20
Electrical Storm in ICD Recipients with Arrhythmogenic Right Ventricular Cardiomyopathy. (28261825)
2017
21
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy. (27855808)
2016
22
Embodying a New Meaning of Being At Risk: Living With an Implantable Cardioverter Defibrillator for Arrhythmogenic Right Ventricular Cardiomyopathy. (28462346)
2016
23
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. (27150862)
2016
24
Arrhythmogenic Right Ventricular Cardiomyopathy: Better Tools for Detecting Early Disease and Progression. (27855809)
2016
25
Electrical storm might be the initial presentation of arrhythmogenic right ventricular cardiomyopathy. (27067562)
2016
26
Evolution of the electrocardiogram in a patient with arrhythmogenic right ventricular cardiomyopathy. (27712909)
2016
27
Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient. (27055156)
2016
28
The ventricular ectopic QRS interval (VEQSI): Diagnosis of arrhythmogenic right ventricular cardiomyopathy in patients with incomplete disease expression. (27016477)
2016
29
New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article. (27100441)
2016
30
Cardiac Sarcoidosis and Arrhythmogenic Right Ventricular Cardiomyopathy -Potential Differential Diagnoses for Arrhythmogenic Ventricular Cardiomyopathy. (27150851)
2016
31
Early repolarization in patients with arrhythmogenic right ventricular cardiomyopathy is not frequent phenomenon. (27526374)
2016
32
MY APPROCH to the Diagnosis and Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D)(a88). (27553816)
2016
33
Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy. (26966288)
2016
34
Letter by Barison et al Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". (26976920)
2016
35
Catheter ablation reduces ventricular tachycardia burden in patients with arrhythmogenic right ventricular cardiomyopathy: insights from a north-western French multicentre registry. (28017936)
2016
36
Structural and molecular pathology ofA theA atrium in boxer arrhythmogenic right ventricular cardiomyopathy. (27769725)
2016
37
Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy. (27939893)
2016
38
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. (27931611)
2016
39
Left Ventricular Function in Children and Adolescents With Arrhythmogenic Right Ventricular Cardiomyopathy. (28040191)
2016
40
Massive Right Atrial Thrombus Formation Followed by an Atrial Flutter with 1:1 Atrioventricular Conduction in a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy. (27522997)
2016
41
Management of arrhythmogenic right ventricular cardiomyopathy. (27186923)
2016
42
Arrhythmogenic Right Ventricular Cardiomyopathy: Risk Stratification and Indications for Defibrillator Therapy. (27147509)
2016
43
Survival after Heart Transplantation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (27154489)
2016
44
Clinical Profile of Arrhythmogenic Right Ventricular Cardiomyopathy With Left Ventricular Involvement. (27402491)
2016
45
Arrhythmogenic right ventricular cardiomyopathy: ECG progression over time and correlation with long-term follow-up. (27119598)
2016
46
Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing. (26990921)
2016
47
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. (26676851)
2016
48
Response to Letter Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". (26976921)
2016
49
Usefulness of Combined Functional Assessment by Cardiac Magnetic Resonance and Tissue Characterization Versus Task Force Criteria for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy. (27825581)
2016
50
Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy. (27531918)
2016

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

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Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

5 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1CTNNA3NM_ 013266.3(CTNNA3): c.2296_ 2298delTTG (p.Leu766del)deletionPathogenicrs587777135GRCh37Chr 10, 67726472: 67726474
2DSC2NM_ 024422.4(DSC2): c.663T> A (p.Tyr221Ter)SNVPathogenic/ Likely pathogenicrs145476705GRCh37Chr 18, 28667744: 28667744
3DSG2NM_ 001943.4(DSG2): c.146G> A (p.Arg49His)SNVPathogenic/ Likely pathogenicrs121913006GRCh37Chr 18, 29099830: 29099830
4DSG2NM_ 001943.4(DSG2): c.137G> A (p.Arg46Gln)SNVPathogenic/ Likely pathogenicrs121913008GRCh37Chr 18, 29099821: 29099821
5DSG2NM_ 001943.4(DSG2): c.2434G> T (p.Gly812Cys)SNVPathogenic/ Likely pathogenicrs121913010GRCh37Chr 18, 29125783: 29125783
6DSG2NM_ 001943.4(DSG2): c.1880-2A> GSNVPathogenic/ Likely pathogenicrs397514038GRCh37Chr 18, 29121154: 29121154
7DSG2NM_ 001943.4(DSG2): c.166G> A (p.Val56Met)SNVrisk factorrs121913013GRCh37Chr 18, 29099850: 29099850
8DSC2NM_ 024422.4(DSC2): c.631-2A> GSNVPathogenic/ Likely pathogenicrs397514042GRCh37Chr 18, 28667778: 28667778
9PKP2NM_ 004572.3(PKP2): c.772A> T (p.Lys258Ter)SNVPathogenic/ Likely pathogenicrs727504430GRCh37Chr 12, 33031042: 33031042
10PKP2NM_ 004572.3(PKP2): c.2509delA (p.Ser837Valfs)deletionPathogenic/ Likely pathogenicrs727504432GRCh37Chr 12, 32945646: 32945646
11DSPNM_ 004415.3(DSP): c.939+1G> ASNVPathogenic/ Likely pathogenicrs727504443GRCh37Chr 6, 7565754: 7565754
12DSPNM_ 004415.3(DSP): c.2821C> T (p.Arg941Ter)SNVPathogenic/ Likely pathogenicrs730880082GRCh37Chr 6, 7577219: 7577219
13DSPNM_ 004415.3(DSP): c.1292dupA (p.Tyr431Terfs)duplicationPathogenic/ Likely pathogenicrs786204293GRCh37Chr 6, 7568695: 7568695
14PKP2NM_ 004572.3(PKP2): c.253_ 256delGAGT (p.Glu85Metfs)deletionPathogenicrs786204388GRCh38Chr 12, 32879000: 32879003
15PKP2NM_ 004572.3(PKP2): c.337-2A> TSNVPathogenic/ Likely pathogenicrs786204389GRCh38Chr 12, 32878545: 32878545
16PKP2NM_ 004572.3(PKP2): c.1170+1G> ASNVPathogenic/ Likely pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
17PKP2NM_ 004572.3(PKP2): c.2329_ 2334delATCATTinsG (p.Ile777Alafs)indelPathogenicrs786204394GRCh37Chr 12, 32949198: 32949203
18PKP2NM_ 004572.3(PKP2): c.1162C> T (p.Arg388Trp)SNVPathogenicrs766209297GRCh37Chr 12, 33021869: 33021869
19PKP2NM_ 004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionPathogenic/ Likely pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
20DSPNM_ 004415.3(DSP): c.5851C> T (p.Arg1951Ter)SNVPathogenic/ Likely pathogenicrs869025395GRCh37Chr 6, 7583346: 7583346
21PKP2NM_ 004572.3(PKP2): c.1613G> A (p.Trp538Ter)SNVPathogenic/ Likely pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
22BAG3NM_ 004281.3(BAG3): c.652C> T (p.Arg218Trp)SNVPathogenic/ Likely pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
23DSG2NM_ 001943.4(DSG2): c.1773_ 1774delTG (p.Cys591Terfs)deletionPathogenic/ Likely pathogenicrs397516703GRCh37Chr 18, 29118835: 29118836
24DSG2NM_ 001943.4(DSG2): c.523+2T> CSNVPathogenic/ Likely pathogenicrs397516709GRCh37Chr 18, 29101208: 29101208
25DSPNM_ 004415.3(DSP): c.3160_ 3169delAAGAACAAAT (p.Lys1054Serfs)deletionPathogenic/ Likely pathogenicrs397516932GRCh37Chr 6, 7579583: 7579592
26DSPNM_ 004415.3(DSP): c.4531C> T (p.Gln1511Ter)SNVPathogenic/ Likely pathogenicrs397516940GRCh37Chr 6, 7580954: 7580954
27DSPNM_ 004415.3(DSP): c.478C> T (p.Arg160Ter)SNVPathogenic/ Likely pathogenicrs397516943GRCh37Chr 6, 7559514: 7559514
28PKP2NM_ 004572.3(PKP2): c.1132C> T (p.Gln378Ter)SNVPathogenic/ Likely pathogenicrs397516986GRCh37Chr 12, 33021899: 33021899
29PKP2NM_ 004572.3(PKP2): c.1170+2T> ASNVPathogenic/ Likely pathogenicrs397516987GRCh37Chr 12, 33021859: 33021859
30PKP2NM_ 004572.3(PKP2): c.1237C> T (p.Arg413Ter)SNVPathogenic/ Likely pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
31PKP2NM_ 004572.3(PKP2): c.1378+1G> CSNVPathogenic/ Likely pathogenicrs397516994GRCh37Chr 12, 33003699: 33003699
32PKP2NM_ 004572.3(PKP2): c.14delG (p.Gly5Alafs)deletionPathogenic/ Likely pathogenicrs397516996GRCh37Chr 12, 33049652: 33049652
33PKP2NM_ 004572.3(PKP2): c.148_ 151delACAG (p.Thr50Serfs)deletionPathogenic/ Likely pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
34PKP2NM_ 004572.3(PKP2): c.1688+1G> ASNVPathogenic/ Likely pathogenicrs397517003GRCh37Chr 12, 32993961: 32993961
35PKP2NM_ 004572.3(PKP2): c.1760delT (p.Val587Alafs)deletionPathogenic/ Likely pathogenicrs397517009GRCh37Chr 12, 32977025: 32977025
36PKP2NM_ 004572.3(PKP2): c.1821dupT (p.Val608Cysfs)duplicationPathogenic/ Likely pathogenicrs397517010GRCh37Chr 12, 32975551: 32975551
37PKP2NM_ 004572.3(PKP2): c.1912C> T (p.Gln638Ter)SNVPathogenicrs397517012GRCh37Chr 12, 32975460: 32975460
38PKP2NM_ 004572.3(PKP2): c.1999G> T (p.Glu667Ter)SNVPathogenicrs397517015GRCh37Chr 12, 32974436: 32974436
39PKP2NM_ 004572.3(PKP2): c.2197_ 2202delCACACCinsG (p.His733Alafs)indelPathogenicrs397517021GRCh37Chr 12, 32955434: 32955439
40PKP2NM_ 004572.3(PKP2): c.2489+1G> TSNVPathogenic/ Likely pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
41DSC2NM_ 024422.4(DSC2): c.846C> G (p.Tyr282Ter)SNVPathogenic/ Likely pathogenicrs397517406GRCh37Chr 18, 28666635: 28666635
42PKP2NM_ 004572.3(PKP2): c.235C> T (p.Arg79Ter)SNVPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
43PKP2NM_ 004572.3(PKP2): c.2203C> T (p.Arg735Ter)SNVPathogenic/ Likely pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
44PKP2NM_ 004572.3(PKP2): c.2146-1G> CSNVPathogenic/ Likely pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
45PKP2NM_ 004572.3(PKP2): c.2489+1G> ASNVPathogenic/ Likely pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
46TMEM43NM_ 024334.2(TMEM43): c.1073C> T (p.Ser358Leu)SNVPathogenicrs63750743GRCh37Chr 3, 14183165: 14183165

Copy number variations for Arrhythmogenic Right Ventricular Cardiomyopathy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1298281236600000243700000GainRYR2Arrhythmogenic right ventricular cardiomyopathy

Expression for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Cardiomyopathy.

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 22)
idSuper pathwaysScoreTop Affiliating Genes
110.1RYR1, RYR2
2
Show member pathways
10.0DES, DSP, PKP2
310.0CTNNB1, GJA1, JUP
49.9CDH2, CTNNB1, GJA1
59.8CDH2, CTNNA3, CTNNB1, JUP
6
Show member pathways
9.8CTNNB1, DSG2, DSP, LMNA
79.8DES, GJA1, JUP, LMNA
8
Show member pathways
9.8CTNNA3, CTNNB1, JUP, TGFB3
9
Show member pathways
9.7DSC2, DSG2, DSP, JUP, PKP2
109.7CDH2, DES, GJA1, TGFB3
119.7CDH2, CTNNB1, RYR1, RYR2
12
Show member pathways
9.7DMD, LMNA, RYR1, RYR2
139.6DSP, GJA1, JUP, LMNA, RYR2
149.6CDH2, CTNNB1, DSP, GJA1, JUP
159.6ACTN2, DES, DMD, TTN
169.6ACTN2, CDH2, CTNNA3, CTNNB1, JUP
17
Show member pathways
9.3ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
189.3ACTN2, CDH2, CTNNA3, CTNNB1, DSP, GJA1
19
Show member pathways
9.2DES, DMD, LMNA, RYR2, TGFB3, TTN
20
Show member pathways
9.2ACTN2, DES, DMD, RYR1, RYR2, TTN
21
Show member pathways
9.1ACTN2, CDH2, CTNNB1, DSC2, DSG2, DSP
22
Show member pathways
8.1ACTN2, CDH2, CTNNA3, CTNNB1, DES, DMD

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1junctional sarcoplasmic reticulum membraneGO:001470110.9RYR1, RYR2
2catenin complexGO:001634210.8CDH2, CTNNB1, JUP
3cell-cell adherens junctionGO:000591310.6CDH2, CTNNB1, DSC2, JUP
4lateral plasma membraneGO:001632810.6CTNNB1, DMD, DSG2, JUP
5cornified envelopeGO:000153310.6DSC2, DSG2, DSP, JUP, PKP2
6desmosomeGO:003005710.5DSC2, DSG2, DSP, JUP, PKP2
7adherens junctionGO:000591210.5CDH2, CTNNA3, CTNNB1, JUP, PKP2
8Set1C/COMPASS complexGO:004818810.5DYDC1, DYDC2
9sarcolemmaGO:004238310.5CDH2, DES, DMD
10intermediate filamentGO:000588210.4DES, DSP, JUP, LMNA, PKP2
11focal adhesionGO:000592510.3ACTN2, CDH2, CTNNB1, GJA1, JUP
12cell-cell junctionGO:000591110.2CDH2, CTNNB1, DES, DSG2, DSP, JUP
13fascia adherensGO:000591610.1CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
14cytoskeletonGO:000585610.0ACTN2, CTNNA3, CTNNB1, DES, DMD, DSP
15cell junctionGO:00300549.8CDH2, CTNNB1, DMD, DSC2, DSG2, DSP
16intercalated discGO:00147049.8CDH2, CTNNB1, DES, DSC2, DSG2, DSP
17Z discGO:00300189.1ACTN2, CTNNB1, DES, DMD, JUP, RYR2
18extracellular exosomeGO:00700629.0ACTN2, CDH2, CTNNB1, DES, DSC2, DSG2
19plasma membraneGO:00058868.5ACTN2, CDH2, CTNNB1, DES, DMD, DSC2

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:000215910.9JUP, PKP2
2desmosome organizationGO:000293410.9DSG2, DSP
3gap junction assemblyGO:001626410.9GJA1, PKP2
4cardiac muscle cell action potentialGO:008600110.9DMD, PKP2
5adherens junction assemblyGO:003433310.9CTNNB1, JUP
6intermediate filament organizationGO:004510910.8DES, DSP
7cellular response to indole-3-methanolGO:007168110.8CTNNB1, JUP
8cardiac muscle hypertrophyGO:000330010.8RYR2, TTN
9cellular response to caffeineGO:007131310.8RYR1, RYR2
10regulation of bicellular tight junction assemblyGO:200081010.8GJA1, PKP2
11cell communication by electrical coupling involved in cardiac conductionGO:008606410.7GJA1, PKP2, RYR2
12regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:001088110.7DMD, RYR2
13response to muscle stretchGO:003599410.7DMD, RYR2
14release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.7RYR1, RYR2
15response to caffeineGO:003100010.6RYR1, RYR2
16chromatin silencing at telomereGO:000634810.6DYDC1, DYDC2
17cardiac muscle contractionGO:006004810.6DMD, RYR2, TTN
18adherens junction organizationGO:003433210.5CDH2, CTNNB1, DSP, JUP
19establishment of protein localization to plasma membraneGO:009000210.5ACTN2, CDH2, JUP, PKP2
20cornificationGO:007026810.4DSC2, DSG2, DSP, JUP, PKP2
21keratinizationGO:003142410.4DSC2, DSG2, DSP, JUP, PKP2
22bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.3CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
23muscle filament slidingGO:003004910.3ACTN2, DES, DMD, TTN
24regulation of heart rate by cardiac conductionGO:008609110.2CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
25single organismal cell-cell adhesionGO:001633710.2CTNNA3, CTNNB1, DSP, JUP, PKP2
26ventricular cardiac muscle cell action potentialGO:008600510.2PKP2, RYR2
27negative regulation of cell proliferationGO:000828510.2CTNNB1, GJA1, LMNA, PKP2, TGFB3
28muscle contractionGO:000693610.1ACTN2, DES, GJA1, RYR1, TTN
29skin developmentGO:004358810.0CTNNB1, DSP, JUP, RYR1
30regulation of ventricular cardiac muscle cell action potentialGO:009891110.0CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
31cell adhesionGO:00071559.9ACTN2, CDH2, CTNNA3, CTNNB1, DSC2, DSG2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1calcium-induced calcium release activityGO:004876310.9RYR1, RYR2
2calcium-release channel activityGO:001527810.9RYR1, RYR2
3cell adhesion molecule bindingGO:005083910.9DSG2, DSP, JUP
4histone methyltransferase activity (H3-K4 specific)GO:004280010.7DYDC1, DYDC2
5cadherin bindingGO:004529610.7CTNNA3, CTNNB1, JUP, PKP2
6alpha-catenin bindingGO:004529410.6CDH2, CTNNB1, JUP, PKP2
7ryanodine-sensitive calcium-release channel activityGO:000521910.6RYR1, RYR2
8ion channel bindingGO:004432510.6ACTN2, CTNNB1, PKP2, RYR2
9protein phosphatase bindingGO:001990310.5CDH2, CTNNB1, JUP
10protein self-associationGO:004362110.5RYR2, TMEM43, TTN
11cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.4CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
12structural constituent of cytoskeletonGO:000520010.4DES, DMD, DSP
13enzyme bindingGO:001989910.3CDH2, CTNNB1, RYR1, RYR2, TTN
14protein kinase bindingGO:001990110.1CDH2, CTNNB1, JUP, RYR2, TTN
15calcium ion bindingGO:00055099.9ACTN2, CDH2, DSC2, DSG2, RYR1, RYR2
16structural constituent of muscleGO:00083079.8ACTN2, DMD, TTN
17protein bindingGO:00055157.7ACTN2, CDH2, CTNNA3, CTNNB1, DES, DMD

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

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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