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 72 23 49 24 36 28 14
Arrhythmogenic Right Ventricular Dysplasia 12 72 49 24 51 41 69
Arvc 12 23 49 24
Arvd 12 23 49 24
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 24 28
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 24
Ventricular Dysplasia, Right, Arrhythmogenic 24
Right Ventricular Dysplasia, Arrhythmogenic 24
Arvc Cardiomyopathy 12
Arvd/c 24

Characteristics:

GeneReviews:

23
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 41 D019571
NCIt 46 C84571
SNOMED-CT 64 253528005 281170005
KEGG 36 H00293
UMLS 69 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

NIH Rare Diseases : 49 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. The condition is progressive and over time the right ventricle loses the ability to pump blood. Individuals with ARVD often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. Other symptoms of ARVD include chest palpitations, dizziness, fainting and shortness of breath. Often, sudden cardiac death can be the first sign of ARVD. ARVD is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVD could be caused by an infection of the heart muscle. Treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. Last updated: 1/30/2013

MalaCards based summary : Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to naxos disease and arrhythmogenic right ventricular dysplasia, familial, 2. 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 Eplerenone and Spironolactone 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 : 24 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 : 72 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart... 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 80)
# Related Disease Score Top Affiliating Genes
1 naxos disease 34.1 DSC2 DSP JUP PKP2
2 arrhythmogenic right ventricular dysplasia, familial, 2 33.6 JUP RYR1 RYR2
3 arrhythmogenic right ventricular dysplasia, familial, 5 33.2 CDH2 CTNNB1 SCN5A TMEM43
4 arrhythmogenic right ventricular dysplasia, familial, 9 33.0 DSP JUP PKP2 RYR2 TGFB3
5 arrhythmogenic right ventricular dysplasia, familial, 1 33.0 DSP JUP PKP2 RYR2 TGFB3
6 arrhythmogenic right ventricular dysplasia, familial, 8 32.9 DSP JUP PKP2 RYR2 TGFB3 TMEM43
7 palmoplantar keratoderma and woolly hair 31.3 DSC2 DSP JUP
8 myofibrillar myopathy 31.0 DES DMD TTN
9 cardiomyopathy, dilated, with woolly hair and keratoderma 30.8 DSP JUP
10 brugada syndrome 30.7 JUP PKP2 SCN5A TMEM43
11 hypertrophic cardiomyopathy 30.5 ACTN2 DES LMNA RYR2 TTN
12 ventricular fibrillation, paroxysmal familial, 1 30.4 DSP RYR2 SCN5A
13 cardiac conduction defect 30.4 DSP RYR1 RYR2 SCN5A
14 catecholaminergic polymorphic ventricular tachycardia 30.1 RYR1 RYR2 SCN5A
15 myopathy 30.0 DES DMD LMNA RYR1 TTN
16 dilated cardiomyopathy 29.1 ACTN2 CDH2 DES DMD DSC2 DSG2
17 arrhythmogenic right ventricular dysplasia, familial, 13 12.1
18 arrhythmogenic right ventricular dysplasia, familial, 4 11.9
19 arrhythmogenic right ventricular dysplasia, familial, 6 11.9
20 myopathy, myofibrillar, 1 11.7
21 arrhythmogenic right ventricular dysplasia, familial, 10 11.7
22 arrhythmogenic right ventricular dysplasia, familial, 11 11.7
23 arrhythmogenic right ventricular dysplasia, familial, 12 11.7
24 arrhythmogenic right ventricular dysplasia, familial, 3 11.6
25 familial isolated arrhythmogenic right ventricular dysplasia 11.3
26 woolly hair syndrome 11.2
27 extracardiac rhabdomyoma 10.6 DES DMD
28 epidermolysis bullosa, lethal acantholytic 10.6 DSP JUP
29 ectodermal dysplasia/skin fragility syndrome 10.6 DSC2 DSP JUP
30 grover's disease 10.6 DSP JUP
31 cytoplasmic body myopathy 10.6 DES DMD
32 paraneoplastic pemphigus 10.6 DSC2 DSG2 DSP
33 pemphigus vulgaris 10.6 DSG2 DSP JUP
34 central core disease of muscle 10.5 DES RYR1 RYR2
35 microcolon 10.5 DES DMD
36 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 DES DMD TTN
37 cardiac sarcoidosis 10.4
38 pemphigus 10.4 DSG2 DSP JUP
39 progressive familial heart block, type ia 10.4
40 progressive familial heart block, type ib 10.4
41 right bundle branch block 10.4
42 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.4 LMNA TMEM43
43 muscle tissue disease 10.4 DMD LMNA RYR1
44 congenital fiber-type disproportion 10.3 DMD LMNA RYR1
45 alopecia 10.3 DSP GJA1 LMNA
46 malignant hyperthermia 10.3 DMD RYR1 RYR2
47 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 DSG2 RYR2 SCN5A
48 centronuclear myopathy 10.3 DMD RYR1 TTN
49 muscular dystrophy, limb-girdle, type 2a 10.3 DMD LMNA TTN
50 tetralogy of fallot 10.2

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:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 JUP RYR2 LMNA SCN5A TGFB3 PKP2
2 behavior/neurological MP:0005386 10.27 RYR1 JUP RYR2 LMNA SCN5A TGFB3
3 cellular MP:0005384 10.27 RYR1 JUP LMNA TGFB3 PKP2 TTN
4 mortality/aging MP:0010768 10.16 RYR1 JUP RYR2 LMNA SCN5A TGFB3
5 growth/size/body region MP:0005378 10.15 RYR1 JUP RYR2 LMNA SCN5A TGFB3
6 homeostasis/metabolism MP:0005376 10.1 RYR1 JUP RYR2 LMNA PKP2 TGFB3
7 embryo MP:0005380 10.06 JUP RYR2 SCN5A TGFB3 TTN DSP
8 muscle MP:0005369 10 JUP RYR2 LMNA SCN5A PKP2 RYR1
9 craniofacial MP:0005382 9.98 RYR1 LMNA TGFB3 TTN DSP CTNNB1
10 normal MP:0002873 9.61 JUP RYR2 LMNA SCN5A TGFB3 TTN
11 respiratory system MP:0005388 9.17 GJA1 RYR1 JUP LMNA TGFB3 CTNNB1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 3 107724-20-9 443872 150310
2
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
3 Diuretics, Potassium Sparing Phase 3,Phase 1,Phase 2
4 diuretics Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Mineralocorticoid Receptor Antagonists Phase 3
9 Mineralocorticoids Phase 3
10 Natriuretic Agents Phase 3
11 Anti-Arrhythmia Agents Phase 1, Phase 2
12 Sodium Channel Blockers Phase 1, Phase 2
13
Isoproterenol Approved, Investigational 7683-59-2 3779
14 Adrenergic Agents
15 Adrenergic Agonists
16 Adrenergic beta-Agonists
17 Anti-Asthmatic Agents
18 Autonomic Agents
19 Bronchodilator Agents
20 Neurotransmitter Agents
21 Peripheral Nervous System Agents
22 Protective Agents
23 Respiratory System Agents

Interventional clinical trials:

(show all 21)

# Name Status NCT ID Phase Drugs
1 PHOspholamban RElated CArdiomyopathy STudy - Intervention Recruiting NCT01857856 Phase 3 Eplerenone
2 Registry of Unexplained Cardiac Arrest Recruiting NCT00292032 Phase 3
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
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
9 The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Completed NCT02291393
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
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 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
17 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
18 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
19 National ARVC DATA Registry and Bio Bank Enrolling by invitation NCT01804699
20 Mayo AVC Registry and BioBank Enrolling by invitation NCT03049254
21 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 28
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 28

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

38
Heart, Testes, Pancreas, Eye, Brain

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 304)
# Title Authors Year
1
Clinical Features of English Bulldogs with Presumed Arrhythmogenic Right Ventricular Cardiomyopathy: 31 Cases (2001-2013). ( 29372871 )
2018
2
Heart transplantation in arrhythmogenic right ventricular cardiomyopathy - Experience from the Nordic ARVC Registry. ( 29107359 )
2018
3
Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. ( 28960618 )
2018
4
Total pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy. ( 29040463 )
2018
5
Predicting Arrhythmic Risk in Arrhythmogenic Right Ventricular Cardiomyopathy: A Systematic Review and Meta-Analysis. ( 29408436 )
2018
6
Arrhythmogenic response to isoproterenol testing vs. exercise testing in arrhythmogenic right ventricular cardiomyopathy patients. ( 29401235 )
2018
7
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28406281 )
2017
8
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. ( 28523642 )
2017
9
Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl. ( 28373789 )
2017
10
Quality of life metrics in arrhythmogenic right ventricular cardiomyopathy patients: The impact of age, shock and sex. ( 28823501 )
2017
11
Radiofrequency Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ( 28779285 )
2017
12
Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28256248 )
2017
13
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. ( 28527814 )
2017
14
A novel noninvasive surface ECG analysis using interlead QRS dispersion in arrhythmogenic right ventricular cardiomyopathy. ( 28771538 )
2017
15
Characterization of the arrhythmogenic substrate in patients with arrhythmogenic right ventricular cardiomyopathy undergoing ventricular tachycardia ablation. ( 28371837 )
2017
16
Cavopulmonary Anastomosis in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy With Severe Right Ventricular Dysfunction. ( 28825387 )
2017
17
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors? ( 28465114 )
2017
18
Expression of plakoglobin in the myocardium was reduced in an elderly patient with arrhythmogenic right ventricular cardiomyopathy. ( 28741882 )
2017
19
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28280076 )
2017
20
Response by Andrews et al to Letter Regarding Article, "Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging". ( 29038106 )
2017
21
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing and of miRNAs regulation in appropriate understanding and treatment. ( 29036601 )
2017
22
Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene. ( 29034900 )
2017
23
Sudden cardiac death owing to arrhythmogenic right ventricular cardiomyopathy: Two case reports and systematic literature review. ( 29381985 )
2017
24
Isolated Late Activation Detected by Magnetocardiography Predicts Future Lethal Ventricular Arrhythmic Events in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28855434 )
2017
25
Systematic review: Impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. ( 28342631 )
2017
26
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28052233 )
2017
27
Should epsilon wave be considered as a major diagnostic criterion in arrhythmogenic right ventricular cardiomyopathy? ( 28326523 )
2017
28
Epicardial screw-in sensing lead on the left ventricle to treat undersensing of ventricular arrhythmias in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 29297585 )
2017
29
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing. ( 28471438 )
2017
30
Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging. ( 28705875 )
2017
31
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 28767663 )
2017
32
Right precordial-directed electrocardiographical markers identify arrhythmogenic right ventricular cardiomyopathy in the absence of conventional depolarization or repolarization abnormalities. ( 29029613 )
2017
33
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in a young female athlete at 36 weeks gestation: a case report. ( 28843747 )
2017
34
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy. ( 28253841 )
2017
35
Arrhythmogenic Right Ventricular Cardiomyopathy in an Endurance Athlete Presenting with Ventricular Tachycardia and Normal Right Ventricular Function. ( 28878587 )
2017
36
Animal models of arrhythmogenic right ventricular cardiomyopathy: what have we learned and where do we go? Insight for therapeutics. ( 28688053 )
2017
37
Circulating microRNAs in arrhythmogenic right ventricular cardiomyopathy with ventricular arrhythmia. ( 29036525 )
2017
38
Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome. ( 28329361 )
2017
39
Arrhythmogenic right ventricular cardiomyopathy vs. dilated cardiomyopathy: implications for next-generation sequencing and microRNA regulation in appropriate diagnosis - Authors' reply. ( 29059343 )
2017
40
Arrhythmogenic Right Ventricular Cardiomyopathy ( 29262224 )
2017
41
First Reported Case of Arrhythmogenic Right Ventricular Cardiomyopathy in Oman. ( 28804588 )
2017
42
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. ( 28067540 )
2017
43
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. ( 28431055 )
2017
44
Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 29158215 )
2017
45
A classic case of arrhythmogenic right ventricular cardiomyopathy (ARVC) and literature review. ( 28638576 )
2017
46
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
47
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28402769 )
2017
48
Cardiac sarcoidosis presenting as arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular aneurysms: a case report. ( 29245138 )
2017
49
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. ( 28431057 )
2017
50
Right ventricular systolic function and mechanical dispersion identify patients with arrhythmogenic right ventricular cardiomyopathy. ( 29105955 )
2017

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6 (show all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.4867C> T (p.Arg1623Ter) single nucleotide variant Pathogenic rs137854613 GRCh37 Chromosome 3, 38592996: 38592996
2 DSG2 NM_001943.4(DSG2): c.146G> A (p.Arg49His) single nucleotide variant Pathogenic/Likely pathogenic rs121913006 GRCh37 Chromosome 18, 29099830: 29099830
3 DSG2 NM_001943.4(DSG2): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121913008 GRCh37 Chromosome 18, 29099821: 29099821
4 DSG2 NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913010 GRCh37 Chromosome 18, 29125783: 29125783
5 DSG2 NM_001943.4(DSG2): c.1880-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514038 GRCh37 Chromosome 18, 29121154: 29121154
6 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
7 DSC2 NM_024422.4(DSC2): c.631-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs397514042 GRCh37 Chromosome 18, 28667778: 28667778
8 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
9 BAG3 NM_004281.3(BAG3): c.652C> T (p.Arg218Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397514506 GRCh37 Chromosome 10, 121431911: 121431911
10 DSG2 NM_001943.4(DSG2): c.1773_1774delTG (p.Cys591Terfs) deletion Pathogenic/Likely pathogenic rs397516703 GRCh37 Chromosome 18, 29118835: 29118836
11 DSG2 NM_001943.4(DSG2): c.523+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs397516709 GRCh37 Chromosome 18, 29101208: 29101208
12 DSP NM_004415.3(DSP): c.3160_3169delAAGAACAAAT (p.Lys1054Serfs) deletion Pathogenic/Likely pathogenic rs397516932 GRCh37 Chromosome 6, 7579583: 7579592
13 DSP NM_004415.3(DSP): c.4531C> T (p.Gln1511Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516940 GRCh37 Chromosome 6, 7580954: 7580954
14 DSP NM_004415.3(DSP): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516943 GRCh37 Chromosome 6, 7559514: 7559514
15 PKP2 NM_004572.3(PKP2): c.1688+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397517003 GRCh37 Chromosome 12, 32993961: 32993961
16 PKP2 NM_004572.3(PKP2): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516986 GRCh37 Chromosome 12, 33021899: 33021899
17 PKP2 NM_004572.3(PKP2): c.1170+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs397516987 GRCh37 Chromosome 12, 33021859: 33021859
18 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372827156 GRCh37 Chromosome 12, 33003841: 33003841
19 PKP2 NM_004572.3(PKP2): c.1378+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516994 GRCh37 Chromosome 12, 33003699: 33003699
20 PKP2 NM_004572.3(PKP2): c.14delG (p.Gly5Alafs) deletion Pathogenic/Likely pathogenic rs397516996 GRCh37 Chromosome 12, 33049652: 33049652
21 PKP2 NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs) deletion Pathogenic/Likely pathogenic rs397516997 GRCh37 Chromosome 12, 33049515: 33049518
22 PKP2 NM_004572.3(PKP2): c.1760delT (p.Val587Alafs) deletion Pathogenic/Likely pathogenic rs397517009 GRCh37 Chromosome 12, 32977025: 32977025
23 PKP2 NM_004572.3(PKP2): c.1821dupT (p.Val608Cysfs) duplication Pathogenic/Likely pathogenic rs397517010 GRCh37 Chromosome 12, 32975551: 32975551
24 PKP2 NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter) single nucleotide variant Pathogenic rs397517012 GRCh37 Chromosome 12, 32975460: 32975460
25 PKP2 NM_004572.3(PKP2): c.1999G> T (p.Glu667Ter) single nucleotide variant Pathogenic rs397517015 GRCh37 Chromosome 12, 32974436: 32974436
26 PKP2 NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs) indel Pathogenic rs397517021 GRCh37 Chromosome 12, 32955434: 32955439
27 PKP2 NM_004572.3(PKP2): c.2489+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
28 DSC2 NM_024422.4(DSC2): c.846C> G (p.Tyr282Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517406 GRCh37 Chromosome 18, 28666635: 28666635
29 CTNNA3 NM_013266.3(CTNNA3): c.2296_2298delTTG (p.Leu766del) deletion Pathogenic rs587777135 GRCh37 Chromosome 10, 67726472: 67726474
30 DSC2 NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter) single nucleotide variant Pathogenic/Likely pathogenic rs145476705 GRCh37 Chromosome 18, 28667744: 28667744
31 DSP NM_004415.3(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh37 Chromosome 6, 7565754: 7565754
32 PKP2 NM_004572.3(PKP2): c.772A> T (p.Lys258Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504430 GRCh37 Chromosome 12, 33031042: 33031042
33 PKP2 NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs) deletion Pathogenic/Likely pathogenic rs727504432 GRCh37 Chromosome 12, 32945646: 32945646
34 DSP NM_004415.3(DSP): c.2821C> T (p.Arg941Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730880082 GRCh38 Chromosome 6, 7576986: 7576986
35 PKP2 NM_004572.3(PKP2): c.2329_2334delATCATTinsG (p.Ile777Alafs) indel Pathogenic rs786204394 GRCh37 Chromosome 12, 32949198: 32949203
36 PKP2 NM_004572.3(PKP2): c.1170+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204392 GRCh37 Chromosome 12, 33021860: 33021860
37 PKP2 NM_004572.3(PKP2): c.337-2A> T single nucleotide variant Pathogenic/Likely pathogenic rs786204389 GRCh38 Chromosome 12, 32878545: 32878545
38 PKP2 NM_004572.3(PKP2): c.253_256delGAGT (p.Glu85Metfs) deletion Pathogenic rs786204388 GRCh38 Chromosome 12, 32879000: 32879003
39 DSG2 NM_001943.4(DSG2): c.523+1G> C single nucleotide variant Pathogenic/Likely pathogenic rs553299589 GRCh38 Chromosome 18, 31521244: 31521244
40 PKP2 NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs) deletion Pathogenic/Likely pathogenic rs794729137 GRCh38 Chromosome 12, 32841073: 32841073
41 PKP2 NM_004572.3(PKP2): c.1162C> T (p.Arg388Trp) single nucleotide variant Pathogenic rs766209297 GRCh38 Chromosome 12, 32868935: 32868935
42 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
43 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh37 Chromosome 12, 33031955: 33031955
44 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
45 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
46 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
47 DSP NM_004415.3(DSP): c.5851C> T (p.Arg1951Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869025395 GRCh37 Chromosome 6, 7583346: 7583346
48 SCN5A NM_198056.2(SCN5A): c.6048G> A (p.Val2016=) single nucleotide variant Pathogenic rs1060499941 GRCh38 Chromosome 3, 38550324: 38550324
49 SCN5A NM_000335.4(SCN5A): c.2184_2186delACT (p.Leu729del) deletion Pathogenic rs1060499940 GRCh38 Chromosome 3, 38597805: 38597807

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:

36
# 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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ACTN2 CDH2 CTNNB1 DSC2 DSG2 DSP
2
Show member pathways
12.82 ACTN2 CDH2 CTNNA3 CTNNB1 JUP TGFB3
3
Show member pathways
12.7 ACTN2 DES DMD RYR1 RYR2 SCN5A
4
Show member pathways
12.39 DSC2 DSG2 DSP JUP PKP2
5
Show member pathways
12.35 DMD LMNA RYR1 RYR2
6 12.08 CTNNB1 GJA1 RYR2 SCN5A
7
Show member pathways
12.04 DES DMD LMNA RYR2 TGFB3 TTN
8 12 CDH2 CTNNB1 RYR1 RYR2
9 11.88 CDH2 CTNNB1 DSP GJA1 JUP
10
Show member pathways
11.87 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
11
Show member pathways
11.86 CTNNB1 DSG2 DSP LMNA
12
Show member pathways
11.81 DES DSP PKP2
13 11.76 CDH2 DES GJA1 TGFB3
14 11.73 CTNNB1 GJA1 JUP
15 11.62 ACTN2 DES DMD TTN
16 11.38 DSP GJA1 JUP LMNA RYR2 SCN5A
17 11.27 CDH2 CTNNA3 CTNNB1 JUP
18 11.26 ACTN2 CDH2 CTNNA3 CTNNB1 JUP
19 11.22 CDH2 CTNNB1 GJA1
20 11 ACTN2 CDH2 CTNNA3 CTNNB1 DSP GJA1
21 10.69 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 23)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.98 ACTN2 CDH2 CTNNB1 GJA1 JUP
2 extracellular matrix GO:0031012 9.97 CDH2 DSP JUP LMNA TGFB3
3 intermediate filament GO:0005882 9.95 DES DSP GJA1 JUP LMNA PKP2
4 lamellipodium GO:0030027 9.88 CDH2 CTNNA3 CTNNB1 DMD
5 cell-cell junction GO:0005911 9.86 CDH2 CTNNB1 DES DSG2 DSP GJA1
6 sarcolemma GO:0042383 9.85 CDH2 DES DMD SCN5A
7 cell-cell adherens junction GO:0005913 9.84 CDH2 CTNNB1 DSC2 JUP
8 adherens junction GO:0005912 9.83 CDH2 CTNNA3 CTNNB1 JUP PKP2
9 cornified envelope GO:0001533 9.8 DSC2 DSG2 DSP JUP PKP2
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 Z disc GO:0030018 9.76 ACTN2 CTNNB1 DES DMD JUP RYR2
13 T-tubule GO:0030315 9.73 RYR1 SCN5A TGFB3
14 catenin complex GO:0016342 9.67 CDH2 CTNNB1 JUP
15 intercalated disc GO:0014704 9.65 CDH2 CTNNB1 DES DSC2 DSG2 DSP
16 contractile fiber GO:0043292 9.61 DES GJA1
17 junctional sarcoplasmic reticulum membrane GO:0014701 9.59 RYR1 RYR2
18 fascia adherens GO:0005916 9.17 CDH2 CTNNA3 CTNNB1 DES DSP GJA1
19 plasma membrane GO:0005886 10.39 ACTN2 CDH2 CTNNB1 DES DMD DSC2
20 extracellular exosome GO:0070062 10.3 ACTN2 CDH2 CTNNB1 DES DSC2 DSG2
21 cytoskeleton GO:0005856 10.14 ACTN2 CTNNA3 CTNNB1 DES DMD DSP
22 cell junction GO:0030054 10.11 CDH2 CTNNB1 DMD DSC2 DSG2 DSP
23 cell surface GO:0009986 10.01 CDH2 DMD DSG2 SCN5A TGFB3

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

(show all 37)
# 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 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 cornification GO:0070268 9.83 DSC2 DSG2 DSP JUP PKP2
7 cardiac muscle contraction GO:0060048 9.8 DMD RYR2 SCN5A TTN
8 skin development GO:0043588 9.78 CTNNB1 DSP JUP RYR1
9 regulation of heart rate GO:0002027 9.73 DMD RYR2 SCN5A
10 muscle contraction GO:0006936 9.72 ACTN2 DES GJA1 RYR1 TTN
11 adherens junction organization GO:0034332 9.71 CDH2 CTNNB1 DSP JUP
12 ventricular cardiac muscle cell action potential GO:0086005 9.7 PKP2 RYR2 SCN5A
13 regulation of heart rate by cardiac conduction GO:0086091 9.7 CTNNA3 DSC2 DSG2 DSP JUP PKP2
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 GJA1 PKP2 RYR2
15 intermediate filament organization GO:0045109 9.67 DES DSP
16 response to muscle stretch GO:0035994 9.67 DMD RYR2
17 positive regulation of sodium ion transport GO:0010765 9.67 PKP2 SCN5A
18 muscle filament sliding GO:0030049 9.67 ACTN2 DES DMD TTN
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.66 PKP2 SCN5A
20 regulation of bicellular tight junction assembly GO:2000810 9.65 GJA1 PKP2
21 response to caffeine GO:0031000 9.65 RYR1 RYR2
22 response to denervation involved in regulation of muscle adaptation GO:0014894 9.65 DMD SCN5A
23 cardiac muscle hypertrophy GO:0003300 9.64 RYR2 TTN
24 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.64 GJA1 SCN5A
25 adherens junction assembly GO:0034333 9.63 CTNNB1 JUP
26 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.63 GJA1 SCN5A
27 atrial cardiac muscle cell action potential GO:0086014 9.62 GJA1 SCN5A
28 gap junction assembly GO:0016264 9.61 GJA1 PKP2
29 cellular response to caffeine GO:0071313 9.61 RYR1 RYR2
30 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.6 RYR1 RYR2
31 desmosome organization GO:0002934 9.59 DSG2 DSP
32 cellular response to indole-3-methanol GO:0071681 9.58 CTNNB1 JUP
33 desmosome assembly GO:0002159 9.58 JUP PKP2
34 cardiac muscle cell action potential GO:0086001 9.55 DMD PKP2
35 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
36 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2
37 negative regulation of cell proliferation GO:0008285 10.02 CTNNB1 GJA1 LMNA PKP2 TGFB3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.91 ACTN2 CDH2 DSC2 DSG2 RYR1 RYR2
2 cadherin binding GO:0045296 9.87 CTNNA3 CTNNB1 JUP PKP2
3 calmodulin binding GO:0005516 9.81 RYR1 RYR2 SCN5A TTN
4 protein kinase binding GO:0019901 9.8 CDH2 CTNNB1 JUP RYR2 SCN5A TTN
5 structural constituent of cytoskeleton GO:0005200 9.75 DES DMD DSP
6 enzyme binding GO:0019899 9.73 CDH2 CTNNB1 RYR1 RYR2 SCN5A TTN
7 protein phosphatase binding GO:0019903 9.71 CDH2 CTNNB1 JUP
8 cell adhesion molecule binding GO:0050839 9.7 DSG2 DSP JUP
9 scaffold protein binding GO:0097110 9.67 DSP GJA1 SCN5A
10 structural constituent of muscle GO:0008307 9.65 ACTN2 DMD TTN
11 nitric-oxide synthase binding GO:0050998 9.56 DMD SCN5A
12 calcium-release channel activity GO:0015278 9.55 RYR1 RYR2
13 ion channel binding GO:0044325 9.55 ACTN2 CTNNB1 PKP2 RYR2 SCN5A
14 calcium-induced calcium release activity GO:0048763 9.46 RYR1 RYR2
15 ryanodine-sensitive calcium-release channel activity GO:0005219 9.43 RYR1 RYR2
16 alpha-catenin binding GO:0045294 9.26 CDH2 CTNNB1 JUP PKP2
17 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 DSC2 DSG2 DSP JUP PKP2
18 protein binding GO:0005515 10.36 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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