ARVC
MCID: ARR042
MIFTS: 59

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 12 76 24 53 25 37 29 6 15
Arrhythmogenic Right Ventricular Dysplasia 12 76 53 25 55 44 73
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 25 29 6
Arvc 12 24 53 25
Arvd 12 24 53 25
Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia 6
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25
Cardiomyopathy, Ventricular, Right, Arrhythmogenic 40
Dysplasia, Arrhythmogenic Right Ventricular ) 40
Ventricular Dysplasia, Right, Arrhythmogenic 25
Right Ventricular Dysplasia, Arrhythmogenic 25
Arvc Cardiomyopathy 12
Arvd/c 25

Characteristics:

GeneReviews:

24
Penetrance Probands are more likely to have ventricular arrhythmias than their family members [groeneweg et al 2015]. of family members with a pathogenic variant, 324 of 385 were asymptomatic, and of these 324 asymptomatic subjects, 221 (68%) did not meet task force criteria. therefore, penetrance for ventricular arrhythmias appears to be relatively low in this disorder...

Classifications:



External Ids:

Disease Ontology 12 DOID:0050431
MeSH 44 D019571
NCIt 50 C84571
KEGG 37 H00293
UMLS 73 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to naxos disease and arrhythmogenic right ventricular dysplasia, familial, 5. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is DSG2 (Desmoglein 2), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Developmental Biology. The drugs Ramipril and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 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 : 76 Arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy... more...

GeneReviews: NBK1131

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 naxos disease 34.0 DSC2 DSP JUP PKP2
2 arrhythmogenic right ventricular dysplasia, familial, 5 33.7 CDH2 SCN5A TMEM43
3 arrhythmogenic right ventricular dysplasia, familial, 4 33.4 PKP2 TGFB3
4 arrhythmogenic right ventricular dysplasia, familial, 8 33.2 DSP JUP PKP2 RYR2 TGFB3 TMEM43
5 arrhythmogenic right ventricular dysplasia, familial, 9 33.1 DSP JUP PKP2 PLN RYR2 TGFB3
6 arrhythmogenic right ventricular dysplasia, familial, 2 33.0 JUP RYR1 RYR2 TGFB3
7 arrhythmogenic right ventricular dysplasia, familial, 1 33.0 DSG2 DSP JUP RYR2 TGFB3 TTN
8 brugada syndrome 31.2 JUP PKP2 SCN5A TMEM43
9 cardiac conduction defect 31.2 DSP LMNA PLN RYR1 RYR2 SCN5A
10 ventricular fibrillation, paroxysmal familial, 1 31.1 DSP RYR2 SCN5A
11 palmoplantar keratoderma and woolly hair 31.0 DSC2 DSP JUP
12 myofibrillar myopathy 31.0 DES DMD LMNA TTN
13 syncope 30.9 ACTN2 SCN5A TTN
14 hypertrophic cardiomyopathy 30.9 ACTN2 DES DSP LMNA PLN RYR2
15 heart disease 30.7 DSP GJA1 LMNA PKP2 RYR2 SCN5A
16 left bundle branch hemiblock 30.6 JUP PKP2 SCN5A
17 sick sinus syndrome 30.5 LMNA SCN5A TTN
18 cardiac arrest 30.5 DSP PLN RYR2 SCN5A
19 catecholaminergic polymorphic ventricular tachycardia 30.5 DSG2 RYR1 RYR2 SCN5A
20 cardiomyopathy, dilated, with woolly hair and keratoderma 30.5 CDH2 DSC2 DSP GJA1 JUP PKP2
21 dilated cardiomyopathy 30.5 ACTN2 CDH2 CTNNA3 DES DMD DSC2
22 arrhythmogenic right ventricular dysplasia, familial, 13 12.2
23 myopathy, myofibrillar, 1 11.9
24 arrhythmogenic right ventricular dysplasia, familial, 10 11.9
25 arrhythmogenic right ventricular dysplasia, familial, 11 11.9
26 arrhythmogenic right ventricular dysplasia, familial, 12 11.9
27 woolly hair syndrome 11.7
28 arrhythmogenic right ventricular dysplasia, familial, 3 11.7
29 arrhythmogenic right ventricular dysplasia, familial, 6 11.7
30 familial isolated arrhythmogenic right ventricular dysplasia 11.5
31 myocarditis 10.7
32 cardiac sarcoidosis 10.6
33 progressive familial heart block, type ia 10.6
34 progressive familial heart block, type ib 10.5
35 right bundle branch block 10.5
36 palmoplantar keratosis 10.4
37 tetralogy of fallot 10.4
38 ectodermal dysplasia/skin fragility syndrome 10.4 DSC2 DSP JUP
39 extracardiac rhabdomyoma 10.4 DES DMD
40 thrombosis 10.3
41 long qt syndrome 10.3
42 myopathy 10.3
43 paraneoplastic pemphigus 10.3 DSC2 DSG2 DSP
44 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DES DMD TTN
45 cytoplasmic body myopathy 10.3 DES DMD
46 pemphigus 10.3 DSG2 DSP JUP
47 reducing body myopathy 10.3 DES DMD TTN
48 grover's disease 10.3 DSP JUP
49 epidermolysis bullosa, lethal acantholytic 10.3 DSP JUP
50 pemphigus vulgaris 10.3 DSG2 DSP JUP

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.1 TTN
2 Decreased viability GR00221-A-4 10.1 TTN
3 Decreased viability GR00240-S-1 10.1 CDH2 GJA1 LMNA
4 Decreased viability GR00342-S-1 10.1 TTN
5 Decreased viability GR00342-S-3 10.1 TTN
6 Decreased viability GR00381-A-1 10.1 TMEM43
7 Decreased viability GR00402-S-2 10.1 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
8 no effect GR00402-S-1 9.62 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 CDH2 CTNNA3 CTNNB1 DES DMD DSC2
2 behavior/neurological MP:0005386 10.27 CTNNB1 DES DMD GJA1 JUP LMNA
3 cellular MP:0005384 10.27 CDH2 CTNNB1 DES DMD DSG2 DSP
4 mortality/aging MP:0010768 10.16 CDH2 CTNNA3 CTNNB1 DES DMD DSG2
5 growth/size/body region MP:0005378 10.15 CDH2 CTNNB1 DMD DSP GJA1 JUP
6 homeostasis/metabolism MP:0005376 10.1 CDH2 CTNNB1 DES DMD GJA1 JUP
7 embryo MP:0005380 10.06 CDH2 CTNNB1 DSP GJA1 JUP RYR2
8 muscle MP:0005369 10 CDH2 CTNNA3 CTNNB1 DES DMD DSP
9 craniofacial MP:0005382 9.98 CTNNB1 DSP GJA1 LMNA RYR1 TGFB3
10 normal MP:0002873 9.61 CTNNB1 DMD GJA1 JUP LMNA RYR2
11 respiratory system MP:0005388 9.17 CTNNB1 DMD GJA1 JUP LMNA RYR1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2
protease inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4 HIV Protease Inhibitors Phase 3
5 Angiotensin-Converting Enzyme Inhibitors Phase 3
6 Diuretics, Potassium Sparing Phase 1, Phase 2,Phase 2
7 Anti-Arrhythmia Agents Phase 1, Phase 2,Phase 2
8 Sodium Channel Blockers Phase 1, Phase 2,Phase 2
9
Isoproterenol Approved, Investigational 7683-59-2 3779
10 Bronchodilator Agents
11 Peripheral Nervous System Agents
12 Respiratory System Agents
13 Adrenergic beta-Agonists
14 Neurotransmitter Agents
15 Adrenergic Agonists
16 Sympathomimetics
17 Autonomic Agents
18 Anti-Asthmatic Agents
19 Cardiotonic Agents
20 Adrenergic Agents
21 Protective Agents

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD Not yet recruiting NCT03593317 Phase 3 Ramipril;Placebo
2 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 Phase 1, Phase 2 flecainide iv
3 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
4 Pilot Randomized Trial With Flecainide in ARVC Patients Not yet recruiting NCT03685149 Phase 2 Flecainide Pill;Placebo
5 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
6 Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac Disease Unknown status NCT01767220 Not Applicable
7 German Centre for Cardiovascular Research Cardiomyopathy Register Unknown status NCT02187263
8 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
9 The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Completed NCT02291393 Not Applicable
10 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
11 Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
12 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
13 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018 Not Applicable
14 PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC Recruiting NCT02989480
15 Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency Department Recruiting NCT02781207
16 "Ventricular Tachycardia Ablation Registry". Recruiting NCT03649022
17 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
18 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
19 Mayo AVC Registry and Biobank Recruiting NCT03049254
20 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
21 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
22 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
23 National ARVC DATA Registry and Bio Bank Enrolling by invitation NCT01804699
24 Sahlgrenska Cardiomyopathy Project Enrolling by invitation NCT03527342
25 Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Patients Terminated NCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Cardiomyopathy

Cochrane evidence based reviews: arrhythmogenic right ventricular dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Cardiomyopathy

Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy 29
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 29

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

41
Heart, Testes, Brain, Adipocyte, Cardiac Myocytes, Eye, Skin

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 1018)
# Title Authors Year
1
Isolated, premature ventricular complex-induced right ventricular dysfunction mimicking arrhythmogenic right ventricular cardiomyopathy. ( 29922579 )
2018
2
Clinical utility of endomyocardial biopsies in the diagnosis of arrhythmogenic right ventricular cardiomyopathy in children. ( 29976970 )
2018
3
Primary electrical disorders and arrhythmogenic right ventricular cardiomyopathy: new research insights with clinical implications. ( 29878208 )
2018
4
Myocardial inflammation detected by cardiac MRI in Arrhythmogenic right ventricular cardiomyopathy: A paediatric case series. ( 29885824 )
2018
5
The pathophysiology of arrhythmias in arrhythmogenic right ventricular cardiomyopathy. ( 29846580 )
2018
6
Clinical Features of English Bulldogs with Presumed Arrhythmogenic Right Ventricular Cardiomyopathy: 31 Cases (2001-2013). ( 29372871 )
2018
7
Arrhythmogenic response to isoproterenol testing vs. exercise testing in arrhythmogenic right ventricular cardiomyopathy patients. ( 29401235 )
2018
8
Isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy: another brick in the wall?-Authors' reply. ( 29846569 )
2018
9
Predicting Arrhythmic Risk in Arrhythmogenic Right Ventricular Cardiomyopathy: A Systematic Review and Meta-Analysis. ( 29408436 )
2018
10
Atrial involvement in arrhythmogenic right ventricular cardiomyopathy patients referred for ventricular arrhythmias ablation. ( 29897149 )
2018
11
Is there a role of isoproterenol testing in the electrical or concealed phase of arrhythmogenic right ventricular cardiomyopathy as a cardiologist's nightmare? ( 29846566 )
2018
12
Heart transplantation in arrhythmogenic right ventricular cardiomyopathy - Experience from the Nordic ARVC Registry. ( 29107359 )
2018
13
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. ( 29802319 )
2018
14
Iatrogenic atrial septal defect with right-to-left shunt following atrial fibrillation ablation in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 29755946 )
2018
15
Congenital Partial Absence of Pericardium: A Mimic of Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29849659 )
2018
16
Arrhythmic outcome of arrhythmogenic right ventricular cardiomyopathy patients without implantable defibrillators. ( 29894017 )
2018
17
Total pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy. ( 29040463 )
2018
18
Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Without an Implantable Cardioverter-Defibrillator. ( 29929669 )
2018
19
Impact of Exercise Restriction on Arrhythmic Risk Among Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29909402 )
2018
20
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
21
Ablation compared with drug therapy for recurrent ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy: Results from a multicenter study. ( 30366162 )
2018
22
Cardiac magnetic resonance based deformation imaging: role of feature tracking in athletes with suspected arrhythmogenic right ventricular cardiomyopathy. ( 30382474 )
2018
23
Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy. ( 30409737 )
2018
24
Can abnormal dispersion of ventricular repolarization be a predictor of mortality in arrhythmogenic right ventricular cardiomyopathy: The importance of Tp-e interval. ( 30412321 )
2018
25
Bioinformatic analysis of a plakophilin-2-dependent transcription network: implications for the mechanisms of arrhythmogenic right ventricular cardiomyopathy in humans and in boxer dogs. ( 30476063 )
2018
26
The S-wave angle identifies arrhythmogenic right ventricular cardiomyopathy in patients with electrocardiographically concealed disease phenotype. ( 30497719 )
2018
27
A Rare Desmoglein-2 Gene Mutation in Arrhythmogenic Right Ventricular Cardiomyopathy Inciting Incessant Ventricular Fibrillation. ( 30524916 )
2018
28
Right ventricular thrombi treated with apixaban in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 30543204 )
2018
29
SPECT perfusion abnormality associated with arrhythmogenic right ventricular cardiomyopathy. ( 28097477 )
2018
30
Right ventricular outflow tract dimensions in arrhythmogenic right ventricular cardiomyopathy/dysplasia-a multicentre study comparing echocardiography and cardiovascular magnetic resonance. ( 28575228 )
2018
31
Lifelong arrhythmic risk stratification in arrhythmogenic right ventricular cardiomyopathy: distribution of events and impact of periodical reassessment. ( 28633348 )
2018
32
Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. ( 28960618 )
2018
33
Arrhythmic Risk Stratification for Arrhythmogenic Right Ventricular Cardiomyopathy: Should We Ask Who Is at High Risk or Who Is at Low Risk? ( 29453327 )
2018
34
Association of regional epicardial right ventricular electrogram voltage amplitude and late gadolinium enhancement distribution on cardiac magnetic resonance in patients with arrhythmogenic right ventricular cardiomyopathy: Implications for ventricular tachycardia ablation. ( 29501666 )
2018
35
Common presentation of rare diseases: Arrhythmogenic right ventricular cardiomyopathy and its mimics. ( 29506736 )
2018
36
Endomyocardial biopsy in differential diagnosis between arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy: an in vitro simulated study. ( 29525727 )
2018
37
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy. ( 29531232 )
2018
38
Pregnancy and newborn outcomes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 29544927 )
2018
39
Arrhythmogenic right ventricular cardiomyopathy and pregnancy. ( 29544930 )
2018
40
Electrocardiographic Repolarization Abnormalities and Electroanatomic Substrate in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29545358 )
2018
41
The Prognostic Value of Right Ventricular Deformation Imaging in Early Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29550307 )
2018
42
Electrical dysfunctions in human-induced pluripotent stem cell-derived cardiomyocytes from a patient with an arrhythmogenic right ventricular cardiomyopathy. ( 29566126 )
2018
43
Arrhythmogenic Right Ventricular Cardiomyopathy with Multiple Thrombi and Ventricular Tachycardia of Atypical Left Branch Bundle Block Morphology. ( 29628478 )
2018
44
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls. ( 29705385 )
2018
45
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). ( 29709087 )
2018
46
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice. ( 29721109 )
2018
47
Arrhythmogenic right ventricular cardiomyopathy as a hidden cause of paediatric myocarditis presentation. ( 29983250 )
2018
48
Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy. ( 29995277 )
2018
49
Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance. ( 29997227 )
2018
50
Right ventricular function in elite male athletes meeting the structural echocardiographic task force criteria for arrhythmogenic right ventricular cardiomyopathy. ( 30022711 )
2018

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6 (show top 50) (show all 1931)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
2 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh38 Chromosome 3, 14141665: 14141665
3 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh37 Chromosome 12, 33031955: 33031955
4 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh38 Chromosome 12, 32879021: 32879021
5 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
6 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh38 Chromosome 12, 32802499: 32802499
7 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
8 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh38 Chromosome 12, 32802557: 32802557
9 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
10 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh38 Chromosome 12, 32796108: 32796108
11 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh37 Chromosome 3, 38592996: 38592996
12 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh38 Chromosome 3, 38551505: 38551505
13 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh37 Chromosome 21, 35821707: 35821707
14 KCNE1 NM_000219.5(KCNE1): c.226G> A (p.Asp76Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315445 GRCh38 Chromosome 21, 34449409: 34449409
15 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh37 Chromosome 18, 29099830: 29099830
16 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh38 Chromosome 18, 31519867: 31519867
17 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
18 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121913008 GRCh38 Chromosome 18, 31519858: 31519858
19 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh37 Chromosome 18, 29125783: 29125783
20 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh38 Chromosome 18, 31545820: 31545820
21 DSG2 NM_001943.4(DSG2): c.991G> A (p.Glu331Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913012 GRCh37 Chromosome 18, 29104828: 29104828
22 DSG2 NM_001943.4(DSG2): c.991G> A (p.Glu331Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs121913012 GRCh38 Chromosome 18, 31524865: 31524865
23 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
24 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh38 Chromosome 18, 31541191: 31541191
25 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
26 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
27 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh37 Chromosome 6, 7542236: 7542236
28 DSP NM_004415.3(DSP): c.88G> A (p.Val30Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121912998 GRCh38 Chromosome 6, 7542003: 7542003
29 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh37 Chromosome 18, 28667778: 28667778
30 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh38 Chromosome 18, 31087815: 31087815
31 JUP NM_002230.2(JUP): c.2089A> T (p.Met697Leu) single nucleotide variant Benign/Likely benign rs1126821 GRCh37 Chromosome 17, 39912145: 39912145
32 JUP NM_002230.2(JUP): c.2089A> T (p.Met697Leu) single nucleotide variant Benign/Likely benign rs1126821 GRCh38 Chromosome 17, 41755893: 41755893
33 CALR3 NM_145046.4(CALR3): c.245A> G (p.Lys82Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142951029 GRCh37 Chromosome 19, 16601330: 16601330
34 CALR3 NM_145046.4(CALR3): c.245A> G (p.Lys82Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142951029 GRCh38 Chromosome 19, 16490519: 16490519
35 DSC2 NM_004949.4(DSC2): c.2194T> G (p.Leu732Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151024019 GRCh37 Chromosome 18, 28650748: 28650748
36 DSC2 NM_004949.4(DSC2): c.2194T> G (p.Leu732Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151024019 GRCh38 Chromosome 18, 31070782: 31070782
37 DSC2 NM_024422.4(DSC2): c.2393G> A (p.Arg798Gln) single nucleotide variant Benign/Likely benign rs61731921 GRCh37 Chromosome 18, 28648975: 28648975
38 DSC2 NM_024422.4(DSC2): c.2393G> A (p.Arg798Gln) single nucleotide variant Benign/Likely benign rs61731921 GRCh38 Chromosome 18, 31069009: 31069009
39 DSG2 NM_001943.4(DSG2): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs193922639 GRCh37 Chromosome 18, 29111109: 29111109
40 DSG2 NM_001943.4(DSG2): c.1174G> A (p.Val392Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs193922639 GRCh38 Chromosome 18, 31531146: 31531146
41 DSG2 NM_001943.4(DSG2): c.1543G> A (p.Val515Ile) single nucleotide variant Benign/Likely benign rs2230235 GRCh37 Chromosome 18, 29116284: 29116284
42 DSG2 NM_001943.4(DSG2): c.1543G> A (p.Val515Ile) single nucleotide variant Benign/Likely benign rs2230235 GRCh38 Chromosome 18, 31536321: 31536321
43 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh37 Chromosome 6, 7542149: 7542149
44 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh38 Chromosome 6, 7541916: 7541916
45 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
46 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
47 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
48 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
49 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
50 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980

Copy number variations for Arrhythmogenic Right Ventricular Cardiomyopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 29828 1 236600000 243700000 Gain RYR2 Arrhythmogenic right ventricular cardiomyopathy

Expression for Arrhythmogenic Right Ventricular Cardiomyopathy

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

Pathways for Arrhythmogenic Right Ventricular Cardiomyopathy

Pathways related to Arrhythmogenic Right Ventricular Cardiomyopathy according to KEGG:

37
# Name Kegg Source Accession
1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) hsa05412

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 ACTN2 CDH2 CTNNB1 DSC2 DSG2 DSP
2
Show member pathways
12.81 ACTN2 CDH2 CTNNA3 CTNNB1 JUP TGFB3
3
Show member pathways
12.7 ACTN2 DES DMD PLN RYR1 RYR2
4
Show member pathways
12.4 GJA1 PLN RYR1 RYR2
5 12.39 DES GJA1 JUP LMNA
6
Show member pathways
12.36 DSC2 DSG2 DSP JUP PKP2
7
Show member pathways
12.35 DMD LMNA RYR1 RYR2
8 12.07 CTNNB1 GJA1 RYR2 SCN5A
9
Show member pathways
12.04 DES DMD LMNA PLN RYR2 TGFB3
10 11.99 CDH2 CTNNB1 RYR1 RYR2
11 11.92 CDH2 CTNNB1 DSP GJA1 JUP
12
Show member pathways
11.87 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
13
Show member pathways
11.86 CTNNB1 DSG2 DSP LMNA
14
Show member pathways
11.8 DES DSP PKP2
15 11.72 CTNNB1 GJA1 JUP
16 11.62 ACTN2 DES DMD TTN
17 11.45 DSP GJA1 JUP LMNA PLN RYR2
18 11.32 ACTN2 CDH2 CTNNA3 CTNNB1 JUP
19 11.31 CDH2 CTNNA3 CTNNB1 JUP
20 11.22 CDH2 CTNNB1 GJA1
21 11 ACTN2 CDH2 CTNNA3 CTNNB1 DSP GJA1
22 10.68 RYR1 RYR2

GO Terms for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.98 ACTN2 CDH2 CTNNB1 GJA1 JUP
2 intermediate filament GO:0005882 9.97 DES DSP GJA1 JUP LMNA PKP2
3 cell-cell adherens junction GO:0005913 9.91 CDH2 CTNNB1 DSC2 JUP PKP2
4 lamellipodium GO:0030027 9.88 CDH2 CTNNA3 CTNNB1 DMD
5 adherens junction GO:0005912 9.88 CDH2 CTNNA3 CTNNB1 JUP PKP2
6 sarcolemma GO:0042383 9.88 CDH2 DES DMD RYR1 RYR2 SCN5A
7 cell-cell junction GO:0005911 9.86 CDH2 CTNNB1 DES DSG2 DSP GJA1
8 cornified envelope GO:0001533 9.83 DSC2 DSG2 DSP JUP PKP2
9 Z disc GO:0030018 9.81 ACTN2 CTNNB1 DES DMD JUP RYR1
10 lateral plasma membrane GO:0016328 9.8 CTNNB1 DMD DSG2 GJA1 JUP SCN5A
11 sarcomere GO:0030017 9.78 ACTN2 RYR2 TTN
12 sarcoplasmic reticulum GO:0016529 9.77 PLN RYR1 RYR2
13 desmosome GO:0030057 9.77 DSC2 DSG2 DSP JUP PKP2
14 T-tubule GO:0030315 9.73 RYR1 SCN5A TGFB3
15 sarcoplasmic reticulum membrane GO:0033017 9.72 PLN RYR1 RYR2
16 catenin complex GO:0016342 9.71 CDH2 CTNNB1 JUP
17 intercalated disc GO:0014704 9.65 CDH2 CTNNB1 DES DSC2 DSG2 DSP
18 contractile fiber GO:0043292 9.63 DES GJA1
19 postsynaptic density, intracellular component GO:0099092 9.63 ACTN2 CTNNB1
20 junctional sarcoplasmic reticulum membrane GO:0014701 9.61 RYR1 RYR2
21 fascia adherens GO:0005916 9.17 CDH2 CTNNA3 CTNNB1 DES DSP GJA1
22 cytoplasm GO:0005737 10.46 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
23 plasma membrane GO:0005886 10.4 ACTN2 CDH2 CTNNB1 DES DMD DSC2
24 extracellular exosome GO:0070062 10.25 ACTN2 CTNNB1 DES DSC2 DSG2 DSP
25 cytoskeleton GO:0005856 10.17 ACTN2 CTNNA3 CTNNB1 DES DMD DSP
26 cell junction GO:0030054 10.11 CDH2 CTNNB1 DMD DSC2 DSG2 DSP
27 cell surface GO:0009986 10.04 CDH2 DMD DSG2 SCN5A TGFB3
28 protein-containing complex GO:0032991 10.04 CTNNB1 DMD GJA1 PLN RYR1 RYR2

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.96 GJA1 RYR1 RYR2 SCN5A
2 keratinization GO:0031424 9.93 DSC2 DSG2 DSP JUP PKP2
3 cell adhesion GO:0007155 9.92 ACTN2 CDH2 CTNNA3 CTNNB1 DSC2 DSG2
4 protein localization to plasma membrane GO:0072659 9.87 ACTN2 CDH2 JUP PKP2
5 cellular calcium ion homeostasis GO:0006874 9.84 PLN RYR1 RYR2
6 muscle contraction GO:0006936 9.83 ACTN2 DES GJA1 RYR1 TTN
7 cardiac muscle contraction GO:0060048 9.8 DMD RYR2 SCN5A TTN
8 cornification GO:0070268 9.8 DSC2 DSG2 DSP JUP PKP2
9 skin development GO:0043588 9.78 CTNNB1 DSP JUP RYR1
10 regulation of cytosolic calcium ion concentration GO:0051480 9.77 PLN RYR1 RYR2
11 adherens junction organization GO:0034332 9.76 CDH2 CTNNB1 DSP JUP
12 regulation of heart contraction GO:0008016 9.75 DES GJA1 PLN
13 regulation of heart rate GO:0002027 9.73 DMD RYR2 SCN5A
14 cell-cell adhesion GO:0098609 9.73 CDH2 CTNNA3 CTNNB1 DSP JUP PKP2
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.72 DMD PLN RYR2
16 ventricular cardiac muscle cell action potential GO:0086005 9.7 PKP2 RYR2 SCN5A
17 regulation of heart rate by cardiac conduction GO:0086091 9.7 CTNNA3 DSC2 DSG2 DSP JUP PKP2
18 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 GJA1 PKP2 RYR2
19 intermediate filament organization GO:0045109 9.68 DES DSP
20 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.68 DMD PLN
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.67 PKP2 SCN5A
22 positive regulation of sodium ion transport GO:0010765 9.67 PKP2 SCN5A
23 response to muscle stretch GO:0035994 9.67 DMD RYR2
24 muscle filament sliding GO:0030049 9.67 ACTN2 DES DMD TTN
25 regulation of cardiac muscle cell contraction GO:0086004 9.65 PLN SCN5A
26 cardiac muscle hypertrophy GO:0003300 9.65 RYR2 TTN
27 response to denervation involved in regulation of muscle adaptation GO:0014894 9.65 DMD SCN5A
28 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.64 GJA1 SCN5A
29 atrial cardiac muscle cell action potential GO:0086014 9.64 GJA1 SCN5A
30 cellular response to caffeine GO:0071313 9.63 RYR1 RYR2
31 regulation of calcium ion import GO:0090279 9.63 CTNNB1 PLN
32 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.62 GJA1 SCN5A
33 response to caffeine GO:0031000 9.62 RYR1 RYR2
34 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.61 RYR1 RYR2
35 cellular response to indole-3-methanol GO:0071681 9.61 CTNNB1 JUP
36 desmosome organization GO:0002934 9.6 DSG2 DSP
37 desmosome assembly GO:0002159 9.58 JUP PKP2
38 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
39 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.91 ACTN2 CDH2 DSC2 DSG2 RYR1 RYR2
2 protein kinase binding GO:0019901 9.88 CDH2 CTNNB1 JUP RYR2 SCN5A TTN
3 calmodulin binding GO:0005516 9.85 RYR1 RYR2 SCN5A TTN
4 cadherin binding GO:0045296 9.83 CDH2 CTNNA3 CTNNB1 JUP PKP2
5 enzyme binding GO:0019899 9.8 CDH2 CTNNB1 RYR1 RYR2 SCN5A TTN
6 structural constituent of cytoskeleton GO:0005200 9.77 DES DMD DSP
7 cytoskeletal protein binding GO:0008092 9.75 ACTN2 CDH2 DES
8 protein phosphatase binding GO:0019903 9.74 CDH2 CTNNB1 JUP
9 cell adhesion molecule binding GO:0050839 9.73 DSG2 DSP JUP
10 scaffold protein binding GO:0097110 9.71 DSP GJA1 SCN5A
11 protein self-association GO:0043621 9.7 RYR2 TMEM43 TTN
12 structural constituent of muscle GO:0008307 9.67 ACTN2 DMD TTN
13 nitric-oxide synthase binding GO:0050998 9.59 DMD SCN5A
14 calcium-release channel activity GO:0015278 9.58 RYR1 RYR2
15 ion channel binding GO:0044325 9.55 ACTN2 CTNNB1 PKP2 RYR2 SCN5A
16 calcium-induced calcium release activity GO:0048763 9.48 RYR1 RYR2
17 ryanodine-sensitive calcium-release channel activity GO:0005219 9.46 RYR1 RYR2
18 alpha-catenin binding GO:0045294 9.26 CDH2 CTNNB1 JUP PKP2
19 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 DSC2 DSG2 DSP JUP PKP2
20 protein binding GO:0005515 10.23 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
21 identical protein binding GO:0042802 10.05 ACTN2 CDH2 DES PLN RYR2 TGFB3

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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