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 77 25 54 26 38 30 6 15
Arrhythmogenic Right Ventricular Dysplasia 12 77 54 26 56 45 74
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 26 30 6
Arvc 12 25 54 26
Arvd 12 25 54 26
Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia 6
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 26
Cardiomyopathy, Ventricular, Right, Arrhythmogenic 41
Ventricular Dysplasia, Right, Arrhythmogenic 26
Right Ventricular Dysplasia, Arrhythmogenic 26
Dysplasia, Arrhythmogenic Right Ventricular 41
Arvc Cardiomyopathy 12
Arvd/c 26

Characteristics:

GeneReviews:

25
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
KEGG 38 H00293
MeSH 45 D019571
NCIt 51 C84571
UMLS 74 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

NIH Rare Diseases : 54 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 HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are no effect and cardiovascular system

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 : 26 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 : 77 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 127)
# Related Disease Score Top Affiliating Genes
1 naxos disease 34.3 DSC2 DSP JUP PKP2
2 arrhythmogenic right ventricular dysplasia, familial, 5 34.0 CDH2 SCN5A TMEM43
3 arrhythmogenic right ventricular dysplasia, familial, 4 33.7 PKP2 TGFB3
4 arrhythmogenic right ventricular dysplasia, familial, 8 33.5 DSP JUP PKP2 RYR2 TGFB3 TMEM43
5 arrhythmogenic right ventricular dysplasia, familial, 9 33.4 DSP JUP PKP2 PLN RYR2 TGFB3
6 arrhythmogenic right ventricular dysplasia, familial, 2 33.3 JUP RYR1 RYR2 TGFB3
7 arrhythmogenic right ventricular dysplasia, familial, 1 33.3 DSG2 DSP JUP RYR2 TGFB3 TTN
8 atrial standstill 1 31.6 ACTN2 DES DMD DSC2 DSG2 DSP
9 brugada syndrome 31.5 JUP PKP2 SCN5A TMEM43
10 cardiac conduction defect 31.4 DSP LMNA PLN RYR1 RYR2 SCN5A
11 palmoplantar keratoderma and woolly hair 31.4 DSC2 DSP JUP
12 ventricular fibrillation, paroxysmal familial, 1 31.3 DSP RYR2 SCN5A
13 myofibrillar myopathy 31.2 DES DMD LMNA TTN
14 syncope 31.2 ACTN2 SCN5A TTN
15 hypertrophic cardiomyopathy 31.0 ACTN2 DES DSP LMNA PLN RYR2
16 left bundle branch hemiblock 30.9 JUP PKP2 SCN5A
17 heart disease 30.9 DSP GJA1 LMNA PKP2 RYR2 SCN5A
18 sick sinus syndrome 30.8 LMNA SCN5A TTN
19 cardiac arrest 30.8 DSP PLN RYR2 SCN5A
20 catecholaminergic polymorphic ventricular tachycardia 30.7 DSP RYR1 RYR2 SCN5A
21 cardiomyopathy, dilated, with woolly hair and keratoderma 30.7 CDH2 DSC2 DSP GJA1 JUP PKP2
22 dilated cardiomyopathy 30.4 ACTN2 CDH2 CTNNA3 DES DMD DSC2
23 arrhythmogenic right ventricular dysplasia, familial, 13 12.2
24 myopathy, myofibrillar, 1 11.9
25 arrhythmogenic right ventricular dysplasia, familial, 10 11.9
26 arrhythmogenic right ventricular dysplasia, familial, 11 11.9
27 arrhythmogenic right ventricular dysplasia, familial, 12 11.9
28 woolly hair syndrome 11.7
29 arrhythmogenic right ventricular dysplasia, familial, 3 11.7
30 arrhythmogenic right ventricular dysplasia, familial, 6 11.7
31 familial isolated arrhythmogenic right ventricular dysplasia 11.5
32 myocarditis 10.7
33 rere-related disorders 10.6
34 refractory anemia 10.6
35 cardiac sarcoidosis 10.6
36 progressive familial heart block, type ia 10.6
37 ectodermal dysplasia/skin fragility syndrome 10.6 DSC2 DSP JUP
38 extracardiac rhabdomyoma 10.5 DES DMD
39 progressive familial heart block, type ib 10.5
40 right bundle branch block 10.5
41 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DES DMD TTN
42 paraneoplastic pemphigus 10.5 DSC2 DSG2 DSP
43 pemphigus 10.5 DSG2 DSP JUP
44 cytoplasmic body myopathy 10.5 DES DMD
45 reducing body myopathy 10.5 DES DMD TTN
46 grover's disease 10.5 DSP JUP
47 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.5 DSG2 DSP RYR2 SCN5A
48 pemphigus vulgaris 10.5 DSG2 DSP JUP
49 epidermolysis bullosa, lethal acantholytic 10.5 DSP JUP
50 palmoplantar keratosis 10.5

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

47 (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 HIV Protease Inhibitors Phase 3
3
protease inhibitors Phase 3
4 Angiotensin-Converting Enzyme Inhibitors Phase 3
5 Antihypertensive Agents Phase 3
6 Diuretics, Potassium Sparing Phase 2,Phase 1
7 Anti-Arrhythmia Agents Phase 2,Phase 1
8 Sodium Channel Blockers Phase 2,Phase 1
9
Isoproterenol Approved, Investigational 7683-59-2 3779
10 Protective Agents
11 Respiratory System Agents
12 Adrenergic Agents
13 Bronchodilator Agents
14 Cardiotonic Agents
15 Adrenergic Agonists
16 Anti-Asthmatic Agents
17 Autonomic Agents
18 Neurotransmitter Agents
19 Sympathomimetics
20 Adrenergic beta-Agonists
21 Peripheral Nervous System Agents

Interventional clinical trials:

(show all 27)
# 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 Pilot Randomized Trial With Flecainide in ARVC Patients Not yet recruiting NCT03685149 Phase 2 Flecainide Pill;Placebo
3 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 Phase 1, Phase 2 flecainide iv
4 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
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 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018 Not Applicable
10 The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Completed NCT02291393 Not Applicable
11 The Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Completed NCT03900208
12 National ARVC DATA Registry and Bio Bank Enrolling by invitation NCT01804699
13 Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Patients Terminated NCT01271816
14 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
15 Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
16 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
17 PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC Recruiting NCT02989480
18 Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency Department Recruiting NCT02781207
19 "Ventricular Tachycardia Ablation Registry". Recruiting NCT03649022
20 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
21 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
22 Sahlgrenska Cardiomyopathy Project Enrolling by invitation NCT03527342
23 Mayo AVC Registry and Biobank Recruiting NCT03049254
24 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
25 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
26 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032
27 China Structural Ventricular Arrhythmias Registry Recruiting NCT03821051

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 30
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 30

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

42
Heart, Testes, Brain, Adipocyte, Cardiac Myocytes, Eye, Pancreas

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 1024)
# Title Authors Year
1
The Prognostic Value of Right Ventricular Deformation Imaging in Early Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29550307 )
2019
2
Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management. ( 30355260 )
2019
3
Subcutaneous implantable cardioverter defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy: Results from an Italian multicenter registry. ( 30661851 )
2019
4
Bioinformatics analysis of sex differences in arrhythmogenic right ventricular cardiomyopathy. ( 30664203 )
2019
5
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) - What We Have Learned after 40 Years of the Diagnosis of This Clinical Entity. ( 30673021 )
2019
6
Cardiac Sympathectomy For Refractory Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30677492 )
2019
7
Outcomes of Catheter Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy Without Background Implantable Cardioverter Defibrillator Therapy: A Multicenter International Ventricular Tachycardia Registry. ( 30678787 )
2019
8
Primary Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillator Therapy in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30678832 )
2019
9
Arrhythmogenic right ventricular cardiomyopathy (ARVC) mimics: the knot unravelled by cardiovascular MRI. ( 30685060 )
2019
10
Characteristics of Recurrent Ventricular Tachyarrhythmia after Catheter Ablation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30699244 )
2019
11
Recurrent ventricular tachycardia after catheter ablation in arrhythmogenic right ventricular cardiomyopathy: Scar progression or ineffective ablation? ( 30715771 )
2019
12
The sympathetic nervous system and arrhythmogenic right ventricular cardiomyopathy: Further evidence of a strong tie. ( 30735792 )
2019
13
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics. ( 30765282 )
2019
14
Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene: a case report. ( 30782136 )
2019
15
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 30790397 )
2019
16
Possibly Late-Onset Arrhythmogenic Right Ventricular Cardiomyopathy: Unique Triglyceride Deposition by Analysis of Lipid Contents. ( 30799966 )
2019
17
Catheter Ablation of Ventricular Tachycardia in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: A Sequential Approach. ( 30813830 )
2019
18
Athletic Training and Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30865997 )
2019
19
Biventricular myocardial strain analysis using cardiac magnetic resonance feature tracking (CMR-FT) in patients with distinct types of right ventricular diseases comparing arrhythmogenic right ventricular cardiomyopathy (ARVC), right ventricular outflow-tract tachycardia (RVOT-VT), and Brugada syndrome (BrS). ( 30868222 )
2019
20
Diagnostic Value of Native T1 Mapping in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30878423 )
2019
21
The echocardiographic assessment of the right ventricle in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared with athletes and matched controls. ( 30883925 )
2019
22
Bradyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30885416 )
2019
23
Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy. ( 30893123 )
2019
24
A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. ( 30915475 )
2019
25
Diagnostic and therapeutic strategies for arrhythmogenic right ventricular dysplasia/cardiomyopathy patient. ( 29688316 )
2019
26
Isolated, premature ventricular complex-induced right ventricular dysfunction mimicking arrhythmogenic right ventricular cardiomyopathy. ( 29922579 )
2018
27
Clinical utility of endomyocardial biopsies in the diagnosis of arrhythmogenic right ventricular cardiomyopathy in children. ( 29976970 )
2018
28
Primary electrical disorders and arrhythmogenic right ventricular cardiomyopathy: new research insights with clinical implications. ( 29878208 )
2018
29
Myocardial inflammation detected by cardiac MRI in Arrhythmogenic right ventricular cardiomyopathy: A paediatric case series. ( 29885824 )
2018
30
The pathophysiology of arrhythmias in arrhythmogenic right ventricular cardiomyopathy. ( 29846580 )
2018
31
Clinical Features of English Bulldogs with Presumed Arrhythmogenic Right Ventricular Cardiomyopathy: 31 Cases (2001-2013). ( 29372871 )
2018
32
Arrhythmogenic response to isoproterenol testing vs. exercise testing in arrhythmogenic right ventricular cardiomyopathy patients. ( 29401235 )
2018
33
Isoproterenol testing in arrhythmogenic right ventricular cardiomyopathy: another brick in the wall?-Authors' reply. ( 29846569 )
2018
34
Predicting Arrhythmic Risk in Arrhythmogenic Right Ventricular Cardiomyopathy: A Systematic Review and Meta-Analysis. ( 29408436 )
2018
35
Atrial involvement in arrhythmogenic right ventricular cardiomyopathy patients referred for ventricular arrhythmias ablation. ( 29897149 )
2018
36
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
37
Heart transplantation in arrhythmogenic right ventricular cardiomyopathy - Experience from the Nordic ARVC Registry. ( 29107359 )
2018
38
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. ( 29802319 )
2018
39
Iatrogenic atrial septal defect with right-to-left shunt following atrial fibrillation ablation in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 29755946 )
2018
40
Congenital Partial Absence of Pericardium: A Mimic of Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29849659 )
2018
41
Arrhythmic outcome of arrhythmogenic right ventricular cardiomyopathy patients without implantable defibrillators. ( 29894017 )
2018
42
Total pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy. ( 29040463 )
2018
43
Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Without an Implantable Cardioverter-Defibrillator. ( 29929669 )
2018
44
Impact of Exercise Restriction on Arrhythmic Risk Among Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29909402 )
2018
45
Right bundle branch block and conduction disturbances in Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. ( 29804172 )
2018
46
Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. ( 28960618 )
2018
47
Lifelong arrhythmic risk stratification in arrhythmogenic right ventricular cardiomyopathy: distribution of events and impact of periodical reassessment. ( 28633348 )
2018
48
Arrhythmic Risk Stratification for Arrhythmogenic Right Ventricular Cardiomyopathy: Should We Ask Who Is at High Risk or Who Is at Low Risk? ( 29453327 )
2018
49
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
50
Common presentation of rare diseases: Arrhythmogenic right ventricular cardiomyopathy and its mimics. ( 29506736 )
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 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
2 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
3 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
4 DSP NM_004415.3(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
5 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
6 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
7 PKP2 NM_004572.3(PKP2): c.1465G> A (p.Gly489Arg) single nucleotide variant Uncertain significance rs111450489 GRCh37 Chromosome 12, 32996161: 32996161
8 PKP2 NM_004572.3(PKP2): c.1465G> A (p.Gly489Arg) single nucleotide variant Uncertain significance rs111450489 GRCh38 Chromosome 12, 32843227: 32843227
9 PKP2 NM_001005242.2(PKP2): c.184C> A (p.Gln62Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199601548 GRCh37 Chromosome 12, 33049482: 33049482
10 PKP2 NM_001005242.2(PKP2): c.184C> A (p.Gln62Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199601548 GRCh38 Chromosome 12, 32896548: 32896548
11 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh37 Chromosome 18, 28648897: 28648897
12 DSC2 NM_004949.4(DSC2): c.2471C> T (p.Ser824Leu) single nucleotide variant Uncertain significance rs143413607 GRCh38 Chromosome 18, 31068931: 31068931
13 DSC2 NM_004949.4(DSC2): c.1018A> G (p.Thr340Ala) single nucleotide variant Likely benign rs368299411 GRCh37 Chromosome 18, 28662951: 28662951
14 DSC2 NM_004949.4(DSC2): c.1018A> G (p.Thr340Ala) single nucleotide variant Likely benign rs368299411 GRCh38 Chromosome 18, 31082985: 31082985
15 DSG2 NM_001943.4(DSG2): c.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh37 Chromosome 18, 29121188: 29121188
16 DSG2 NM_001943.4(DSG2): c.1912G> A (p.Gly638Arg) single nucleotide variant Uncertain significance rs201564919 GRCh38 Chromosome 18, 31541225: 31541225
17 DSP NM_004415.3(DSP): c.4180C> T (p.Gln1394Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140474226 GRCh37 Chromosome 6, 7580603: 7580603
18 DSP NM_004415.3(DSP): c.4180C> T (p.Gln1394Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140474226 GRCh38 Chromosome 6, 7580370: 7580370
19 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh37 Chromosome 18, 28667744: 28667744
20 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh38 Chromosome 18, 31087781: 31087781
21 RYR2 NM_001035.2(RYR2): c.1612+13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368200572 GRCh37 Chromosome 1, 237620048: 237620048
22 RYR2 NM_001035.2(RYR2): c.1612+13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368200572 GRCh38 Chromosome 1, 237456748: 237456748
23 RYR2 NM_001035.2(RYR2): c.6689-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370972311 GRCh37 Chromosome 1, 237798177: 237798177
24 RYR2 NM_001035.2(RYR2): c.6689-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370972311 GRCh38 Chromosome 1, 237634877: 237634877
25 RYR2 NM_001035.2(RYR2): c.9619A> G (p.Asn3207Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs372601642 GRCh37 Chromosome 1, 237870287: 237870287
26 RYR2 NM_001035.2(RYR2): c.9619A> G (p.Asn3207Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs372601642 GRCh38 Chromosome 1, 237706987: 237706987
27 RYR2 NM_001035.2(RYR2): c.10495-14A> G single nucleotide variant Uncertain significance rs727505057 GRCh38 Chromosome 1, 237718448: 237718448
28 RYR2 NM_001035.2(RYR2): c.10495-14A> G single nucleotide variant Uncertain significance rs727505057 GRCh37 Chromosome 1, 237881748: 237881748
29 RYR2 NM_001035.2(RYR2): c.4941G> A (p.Gln1647=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504997 GRCh38 Chromosome 1, 237614069: 237614069
30 RYR2 NM_001035.2(RYR2): c.4941G> A (p.Gln1647=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504997 GRCh37 Chromosome 1, 237777369: 237777369
31 RYR2 NM_001035.2(RYR2): c.6555+6G> A single nucleotide variant Benign/Likely benign rs372661934 GRCh37 Chromosome 1, 237794847: 237794847
32 RYR2 NM_001035.2(RYR2): c.6555+6G> A single nucleotide variant Benign/Likely benign rs372661934 GRCh38 Chromosome 1, 237631547: 237631547
33 RYR2 NM_001035.2(RYR2): c.9666C> T (p.Ala3222=) single nucleotide variant Conflicting interpretations of pathogenicity rs116442127 GRCh37 Chromosome 1, 237870334: 237870334
34 RYR2 NM_001035.2(RYR2): c.9666C> T (p.Ala3222=) single nucleotide variant Conflicting interpretations of pathogenicity rs116442127 GRCh38 Chromosome 1, 237707034: 237707034
35 RYR2 NM_001035.2(RYR2): c.10231-4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs117180147 GRCh37 Chromosome 1, 237875041: 237875041
36 RYR2 NM_001035.2(RYR2): c.10231-4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs117180147 GRCh38 Chromosome 1, 237711741: 237711741
37 RYR2 NM_001035.2(RYR2): c.11880+13_11880+16delACTG deletion Benign/Likely benign rs199562036 GRCh37 Chromosome 1, 237942083: 237942086
38 RYR2 NM_001035.2(RYR2): c.11880+13_11880+16delACTG deletion Benign/Likely benign rs199562036 GRCh38 Chromosome 1, 237778783: 237778786
39 RYR2 NM_001035.2(RYR2): c.14756+12C> T single nucleotide variant Benign/Likely benign rs2275693 GRCh37 Chromosome 1, 237993942: 237993942
40 RYR2 NM_001035.2(RYR2): c.14756+12C> T single nucleotide variant Benign/Likely benign rs2275693 GRCh38 Chromosome 1, 237830642: 237830642
41 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh38 Chromosome 3, 14130819: 14130819
42 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh37 Chromosome 3, 14172319: 14172319
43 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh37 Chromosome 3, 14176384: 14176384
44 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh38 Chromosome 3, 14134884: 14134884
45 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
46 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
47 DSP NM_004415.3(DSP): c.2920delA (p.Thr974Leufs) deletion Likely pathogenic rs727505260 GRCh37 Chromosome 6, 7578054: 7578054
48 DSP NM_004415.3(DSP): c.2920delA (p.Thr974Leufs) deletion Likely pathogenic rs727505260 GRCh38 Chromosome 6, 7577821: 7577821
49 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
50 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697

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:

38
# 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
12.05 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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