MCID: ARR042
MIFTS: 57

Arrhythmogenic Right Ventricular Cardiomyopathy

Categories: Rare diseases, Cardiovascular 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 6 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
Dysplasia, Arrhythmogenic Right Ventricular 6
Cardiomyopathy, Arvc 6
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
SNOMED-CT 68 253528005 281170005
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 PKP2 (Plakophilin 2), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Developmental Biology. The drugs Anti-Arrhythmia Agents and Diuretics, Potassium Sparing have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and pancreas, and related phenotypes are cardiovascular system and behavior/neurological

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 84)
# Related Disease Score Top Affiliating Genes
1 naxos disease 34.7 DSC2 DSP JUP PKP2
2 arrhythmogenic right ventricular dysplasia, familial, 5 34.1 CDH2 CTNNB1 SCN5A TMEM43
3 arrhythmogenic right ventricular dysplasia, familial, 2 33.6 JUP RYR1 RYR2
4 arrhythmogenic right ventricular dysplasia, familial, 8 33.5 DSP JUP PKP2 RYR2 TGFB3 TMEM43
5 arrhythmogenic right ventricular dysplasia, familial, 9 33.3 DSP JUP PKP2 PLN RYR2 TGFB3
6 arrhythmogenic right ventricular dysplasia, familial, 1 33.1 DSG2 DSP JUP PKP2 RYR2 TGFB3
7 palmoplantar keratoderma and woolly hair 31.9 DSC2 DSP JUP
8 brugada syndrome 31.5 JUP PKP2 SCN5A TMEM43
9 cardiomyopathy, dilated, with woolly hair and keratoderma 31.3 DSP JUP
10 ventricular fibrillation, paroxysmal familial, 1 31.2 DSP RYR2 SCN5A
11 syncope 31.1 ACTN2 SCN5A TTN
12 catecholaminergic polymorphic ventricular tachycardia 30.6 RYR1 RYR2 SCN5A
13 cardiac conduction defect 30.6 DSP LMNA PLN RYR1 RYR2 SCN5A
14 hypertrophic cardiomyopathy 30.5 ACTN2 DES DMD DSP LMNA PLN
15 dilated cardiomyopathy 28.6 ACTN2 CDH2 CTNNA3 DES DMD DSC2
16 arrhythmogenic right ventricular dysplasia, familial, 13 12.1
17 arrhythmogenic right ventricular dysplasia, familial, 4 11.9
18 myopathy, myofibrillar, 1 11.7
19 arrhythmogenic right ventricular dysplasia, familial, 10 11.7
20 arrhythmogenic right ventricular dysplasia, familial, 11 11.7
21 arrhythmogenic right ventricular dysplasia, familial, 12 11.7
22 woolly hair syndrome 11.6
23 arrhythmogenic right ventricular dysplasia, familial, 3 11.6
24 arrhythmogenic right ventricular dysplasia, familial, 6 11.6
25 familial isolated arrhythmogenic right ventricular dysplasia 11.3
26 extracardiac rhabdomyoma 11.1 DES DMD
27 cytoplasmic body myopathy 11.0 DES DMD
28 ectodermal dysplasia/skin fragility syndrome 11.0 DSC2 DSP JUP
29 grover's disease 11.0 DSP JUP
30 paraneoplastic pemphigus 11.0 DSC2 DSG2 DSP
31 epidermolysis bullosa, lethal acantholytic 11.0 DSP JUP
32 cardioneuromyopathy with hyaline masses and nemaline rods 11.0 DES DMD TTN
33 reducing body myopathy 10.9 DES DMD TTN
34 pemphigus vulgaris 10.9 DSG2 DSP JUP
35 cardiac arrhythmia 10.8 JUP RYR2 SCN5A
36 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.8 LMNA TMEM43
37 pemphigus 10.8 DSG2 DSP JUP
38 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.8 DSG2 DSP RYR2 SCN5A
39 microcolon 10.7 DES DMD
40 central core disease of muscle 10.7 DES RYR1 RYR2
41 rigid spine muscular dystrophy 1 10.6 DMD RYR1 TTN
42 muscle tissue disease 10.6 DMD LMNA RYR1
43 cardiac arrest 10.6 DSP PLN RYR2 SCN5A
44 congenital fiber-type disproportion 10.6 DMD LMNA RYR1
45 centronuclear myopathy 10.6 DMD RYR1 TTN
46 neuromuscular disease 10.6 DES DMD RYR1 TTN
47 malignant hyperthermia 10.6 DMD RYR1 RYR2
48 cardiac sarcoidosis 10.4
49 long qt syndrome 1 10.4 DSP RYR2 SCN5A
50 progressive familial heart block, type ia 10.4

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

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 SCN5A TGFB3 PKP2 RYR1 JUP TTN
2 behavior/neurological MP:0005386 10.27 LMNA SCN5A TGFB3 RYR1 TMEM43 JUP
3 cellular MP:0005384 10.27 LMNA TGFB3 PKP2 RYR1 JUP TTN
4 mortality/aging MP:0010768 10.16 SCN5A TGFB3 PKP2 RYR1 JUP TTN
5 growth/size/body region MP:0005378 10.15 LMNA SCN5A TGFB3 RYR1 JUP TTN
6 homeostasis/metabolism MP:0005376 10.1 LMNA PKP2 TGFB3 RYR1 JUP TTN
7 embryo MP:0005380 10.06 SCN5A TGFB3 JUP TTN RYR2 DSP
8 muscle MP:0005369 10 SCN5A PKP2 RYR1 JUP TTN RYR2
9 craniofacial MP:0005382 9.98 LMNA TGFB3 RYR1 TTN DSP CTNNB1
10 normal MP:0002873 9.61 LMNA SCN5A TGFB3 JUP TTN RYR2
11 respiratory system MP:0005388 9.17 LMNA GJA1 TGFB3 RYR1 JUP CTNNB1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Arrhythmia Agents Phase 1, Phase 2
2 Diuretics, Potassium Sparing Phase 1, Phase 2
3 Sodium Channel Blockers Phase 1, Phase 2
4
Isoproterenol Approved, Investigational 7683-59-2 3779
5 Adrenergic Agents
6 Adrenergic Agonists
7 Adrenergic beta-Agonists
8 Anti-Asthmatic Agents
9 Autonomic Agents
10 Bronchodilator Agents
11 Neurotransmitter Agents
12 Peripheral Nervous System Agents
13 Protective Agents
14 Respiratory System Agents

Interventional clinical trials:

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

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 335)
# 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
Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. ( 28960618 )
2018
22
Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl. ( 28373789 )
2017
23
Subcutaneous Implantable Cardioverter-Defibrillator and Arrhythmogenic Right Ventricular Cardiomyopathy: The Importance of Repeat ECG Screening During Exercise Test. ( 29759546 )
2017
24
Surgical Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy with Absent Pulmonary Valve. ( 28524842 )
2017
25
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing and of miRNAs regulation in appropriate understanding and treatment. ( 29036601 )
2017
26
Systematic review: Impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. ( 28342631 )
2017
27
Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging. ( 28705875 )
2017
28
Arrhythmogenic right-ventricular cardiomyopathy and cardiac microvascular disease: a rare association or a possible link? ( 28857927 )
2017
29
Letter by Di Marco et al Regarding Article, "Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging". ( 29038105 )
2017
30
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2. ( 28818065 )
2017
31
Cavopulmonary Anastomosis in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy With Severe Right Ventricular Dysfunction. ( 28825387 )
2017
32
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. ( 28067540 )
2017
33
A classic case of arrhythmogenic right ventricular cardiomyopathy (ARVC) and literature review. ( 28638576 )
2017
34
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. ( 28431055 )
2017
35
Galectin-3 correlates with arrhythmogenic right ventricular cardiomyopathy and predicts the risk of ventricular -arrhythmias in patients with implantable defibrillators. ( 28705047 )
2017
36
First Reported Case of Arrhythmogenic Right Ventricular Cardiomyopathy in Oman. ( 28804588 )
2017
37
Circulating microRNAs in arrhythmogenic right ventricular cardiomyopathy with ventricular arrhythmia. ( 29036525 )
2017
38
Radiofrequency Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ( 28779285 )
2017
39
A novel noninvasive surface ECG analysis using interlead QRS dispersion in arrhythmogenic right ventricular cardiomyopathy. ( 28771538 )
2017
40
Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29158215 )
2017
41
Right precordial-directed electrocardiographical markers identify arrhythmogenic right ventricular cardiomyopathy in the absence of conventional depolarization or repolarization abnormalities. ( 29029613 )
2017
42
Isolated Late Activation Detected by Magnetocardiography Predicts Future Lethal Ventricular Arrhythmic Events in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28855434 )
2017
43
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28402769 )
2017
44
Expression of plakoglobin in the myocardium was reduced in an elderly patient with arrhythmogenic right ventricular cardiomyopathy. ( 28741882 )
2017
45
Characterization of the arrhythmogenic substrate in patients with arrhythmogenic right ventricular cardiomyopathy undergoing ventricular tachycardia ablation. ( 28371837 )
2017
46
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28280076 )
2017
47
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 28767663 )
2017
48
Arrhythmogenic Right Ventricular Cardiomyopathy in the Boxer Dog: An Update. ( 28647112 )
2017
49
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. ( 28527814 )
2017
50
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in a young female athlete at 36 weeks gestation: a case report. ( 28843747 )
2017

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6
(show top 50) (show all 1502)
# 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/Likely pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
8 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs193922674 GRCh38 Chromosome 12, 32802557: 32802557
9 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
10 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely 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 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh37 Chromosome 18, 29099830: 29099830
14 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh38 Chromosome 18, 31519867: 31519867
15 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
16 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121913008 GRCh38 Chromosome 18, 31519858: 31519858
17 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh37 Chromosome 18, 29125783: 29125783
18 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Likely pathogenic rs121913010 GRCh38 Chromosome 18, 31545820: 31545820
19 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
20 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh38 Chromosome 18, 31541191: 31541191
21 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
22 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
23 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh37 Chromosome 18, 28667778: 28667778
24 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh38 Chromosome 18, 31087815: 31087815
25 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
26 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh38 Chromosome 12, 32841103: 32841103
27 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Likely pathogenic rs193922673 GRCh37 Chromosome 12, 32974407: 32974407
28 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Likely pathogenic rs193922673 GRCh38 Chromosome 12, 32821473: 32821473
29 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Likely pathogenic rs193922706 GRCh37 Chromosome 3, 14183242: 14183242
30 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Likely pathogenic rs193922706 GRCh38 Chromosome 3, 14141742: 14141742
31 DSG2 NM_001943.4(DSG2): c.1773_1774delTG (p.Cys591Terfs) deletion Pathogenic/Likely pathogenic rs397516703 GRCh37 Chromosome 18, 29118835: 29118836
32 DSG2 NM_001943.4(DSG2): c.1773_1774delTG (p.Cys591Terfs) deletion Pathogenic/Likely pathogenic rs397516703 GRCh38 Chromosome 18, 31538872: 31538873
33 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh37 Chromosome 18, 29101208: 29101208
34 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh38 Chromosome 18, 31521245: 31521245
35 DSG2 NM_001943.4(DSG2): c.941C> A (p.Ser314Ter) single nucleotide variant Likely pathogenic rs397516712 GRCh37 Chromosome 18, 29104778: 29104778
36 DSG2 NM_001943.4(DSG2): c.941C> A (p.Ser314Ter) single nucleotide variant Likely pathogenic rs397516712 GRCh38 Chromosome 18, 31524815: 31524815
37 DSP NM_004415.3(DSP): c.1273C> T (p.Arg425Ter) single nucleotide variant Likely pathogenic rs397516915 GRCh37 Chromosome 6, 7568676: 7568676
38 DSP NM_004415.3(DSP): c.1273C> T (p.Arg425Ter) single nucleotide variant Likely pathogenic rs397516915 GRCh38 Chromosome 6, 7568443: 7568443
39 DSP NM_004415.3(DSP): c.1650G> A (p.Trp550Ter) single nucleotide variant Likely pathogenic rs397516919 GRCh37 Chromosome 6, 7570745: 7570745
40 DSP NM_004415.3(DSP): c.1650G> A (p.Trp550Ter) single nucleotide variant Likely pathogenic rs397516919 GRCh38 Chromosome 6, 7570512: 7570512
41 DSP NM_004415.3(DSP): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs397516923 GRCh37 Chromosome 6, 7555994: 7555994
42 DSP NM_004415.3(DSP): c.214C> T (p.Gln72Ter) single nucleotide variant Likely pathogenic rs397516923 GRCh38 Chromosome 6, 7555761: 7555761
43 DSP NM_004415.3(DSP): c.2959T> C (p.Ser987Pro) single nucleotide variant Likely pathogenic rs397516929 GRCh37 Chromosome 6, 7578093: 7578093
44 DSP NM_004415.3(DSP): c.2959T> C (p.Ser987Pro) single nucleotide variant Likely pathogenic rs397516929 GRCh38 Chromosome 6, 7577860: 7577860
45 DSP NM_004415.3(DSP): c.3160_3169delAAGAACAAAT (p.Lys1054Serfs) deletion Pathogenic rs397516932 GRCh37 Chromosome 6, 7579583: 7579592
46 DSP NM_004415.3(DSP): c.3160_3169delAAGAACAAAT (p.Lys1054Serfs) deletion Pathogenic rs397516932 GRCh38 Chromosome 6, 7579350: 7579359
47 DSP NM_004415.3(DSP): c.3829C> T (p.Gln1277Ter) single nucleotide variant Likely pathogenic rs397516933 GRCh37 Chromosome 6, 7580252: 7580252
48 DSP NM_004415.3(DSP): c.3829C> T (p.Gln1277Ter) single nucleotide variant Likely pathogenic rs397516933 GRCh38 Chromosome 6, 7580019: 7580019
49 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh37 Chromosome 6, 7580954: 7580954
50 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic rs397516940 GRCh38 Chromosome 6, 7580721: 7580721

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 25)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.99 ACTN2 CDH2 CTNNB1 GJA1 JUP
2 intermediate filament GO:0005882 9.97 DES DSP GJA1 JUP LMNA PKP2
3 lamellipodium GO:0030027 9.88 CDH2 CTNNA3 CTNNB1 DMD
4 adherens junction GO:0005912 9.88 CDH2 CTNNA3 CTNNB1 JUP PKP2
5 sarcolemma GO:0042383 9.88 CDH2 DES DMD RYR1 RYR2 SCN5A
6 cell-cell junction GO:0005911 9.86 CDH2 CTNNB1 DES DSG2 DSP GJA1
7 cell-cell adherens junction GO:0005913 9.84 CDH2 CTNNB1 DSC2 JUP
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 desmosome GO:0030057 9.77 DSC2 DSG2 DSP JUP PKP2
12 sarcoplasmic reticulum GO:0016529 9.76 PLN RYR1 RYR2
13 T-tubule GO:0030315 9.74 RYR1 SCN5A TGFB3
14 sarcoplasmic reticulum membrane GO:0033017 9.73 PLN RYR1 RYR2
15 catenin complex GO:0016342 9.72 CDH2 CTNNB1 JUP
16 intercalated disc GO:0014704 9.65 CDH2 CTNNB1 DES DSC2 DSG2 DSP
17 contractile fiber GO:0043292 9.62 DES GJA1
18 junctional sarcoplasmic reticulum membrane GO:0014701 9.6 RYR1 RYR2
19 fascia adherens GO:0005916 9.17 CDH2 CTNNA3 CTNNB1 DES DSP GJA1
20 plasma membrane GO:0005886 10.39 ACTN2 CDH2 CTNNB1 DES DMD DSC2
21 extracellular exosome GO:0070062 10.3 ACTN2 CDH2 CTNNB1 DES DSC2 DSG2
22 cytoskeleton GO:0005856 10.15 ACTN2 CTNNA3 CTNNB1 DES DMD DSP
23 cell junction GO:0030054 10.11 CDH2 CTNNB1 DMD DSC2 DSG2 DSP
24 cell surface GO:0009986 10.02 CDH2 DMD DSG2 SCN5A TGFB3
25 protein-containing complex GO:0032991 10.01 CTNNB1 DMD GJA1 RYR1 RYR2

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.99 GJA1 RYR1 RYR2 SCN5A
2 keratinization GO:0031424 9.93 DSC2 DSG2 DSP JUP PKP2
3 protein localization to plasma membrane GO:0072659 9.87 ACTN2 CDH2 JUP PKP2
4 cell adhesion GO:0007155 9.86 ACTN2 CDH2 CTNNA3 CTNNB1 DSC2 DSG2
5 cell-cell adhesion GO:0098609 9.85 CTNNA3 CTNNB1 DSP JUP PKP2
6 cellular calcium ion homeostasis GO:0006874 9.84 PLN RYR1 RYR2
7 cardiac muscle contraction GO:0060048 9.8 DMD RYR2 SCN5A TTN
8 cornification GO:0070268 9.8 DSC2 DSG2 DSP JUP PKP2
9 regulation of cardiac conduction GO:1903779 9.79 PLN RYR1 RYR2
10 skin development GO:0043588 9.78 CTNNB1 DSP JUP RYR1
11 regulation of cytosolic calcium ion concentration GO:0051480 9.77 PLN RYR1 RYR2
12 muscle contraction GO:0006936 9.77 ACTN2 DES GJA1 RYR1 TTN
13 regulation of heart contraction GO:0008016 9.75 DES GJA1 PLN
14 regulation of heart rate GO:0002027 9.73 DMD RYR2 SCN5A
15 adherens junction organization GO:0034332 9.73 CDH2 CTNNB1 DSP JUP
16 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.72 DMD PLN RYR2
17 ventricular cardiac muscle cell action potential GO:0086005 9.7 PKP2 RYR2 SCN5A
18 regulation of heart rate by cardiac conduction GO:0086091 9.7 CTNNA3 DSC2 DSG2 DSP JUP PKP2
19 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 GJA1 PKP2 RYR2
20 intermediate filament organization GO:0045109 9.68 DES DSP
21 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.68 DMD PLN
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.68 PKP2 SCN5A
23 response to muscle stretch GO:0035994 9.67 DMD RYR2
24 positive regulation of sodium ion transport GO:0010765 9.67 PKP2 SCN5A
25 regulation of cardiac muscle cell contraction GO:0086004 9.66 PLN SCN5A
26 cardiac muscle hypertrophy GO:0003300 9.66 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 9.65 GJA1 SCN5A
29 atrial cardiac muscle cell action potential GO:0086014 9.65 GJA1 SCN5A
30 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.64 GJA1 SCN5A
31 adherens junction assembly GO:0034333 9.64 CTNNB1 JUP
32 response to caffeine GO:0031000 9.63 RYR1 RYR2
33 regulation of calcium ion import GO:0090279 9.63 CTNNB1 PLN
34 cellular response to caffeine GO:0071313 9.62 RYR1 RYR2
35 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.62 RYR1 RYR2
36 muscle filament sliding GO:0030049 9.62 ACTN2 DES DMD TTN
37 cellular response to indole-3-methanol GO:0071681 9.61 CTNNB1 JUP
38 desmosome organization GO:0002934 9.6 DSG2 DSP
39 desmosome assembly GO:0002159 9.58 JUP PKP2
40 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
41 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 structural constituent of cytoskeleton GO:0005200 9.77 DES DMD DSP
6 cytoskeletal protein binding GO:0008092 9.75 ACTN2 CDH2 DES
7 protein phosphatase binding GO:0019903 9.74 CDH2 CTNNB1 JUP
8 cell adhesion molecule binding GO:0050839 9.73 DSG2 DSP JUP
9 enzyme binding GO:0019899 9.73 CDH2 CTNNB1 RYR1 RYR2 SCN5A TTN
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 ryanodine-sensitive calcium-release channel activity GO:0005219 9.48 RYR1 RYR2
17 calcium-induced calcium release activity GO:0048763 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 10.3 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
Content
Loading form....