ARVC
MCID: ARR042
MIFTS: 63

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Categories: Cardiovascular diseases, Muscle diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 12 74 24 52 25 58 36 29 6 15
Arrhythmogenic Right Ventricular Dysplasia 12 74 52 25 58 54 43 71
Arvc 12 24 52 25 58
Arvd 12 24 52 25 58
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 25 29 6
Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia 6
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25
Cardiomyopathy, Ventricular, Right, Arrhythmogenic 39
Ventricular Dysplasia, Right, Arrhythmogenic 25
Right Ventricular Dysplasia, Arrhythmogenic 25
Dysplasia, Arrhythmogenic Right Ventricular 39
Arvc Cardiomyopathy 12
Arvd/c 25

Characteristics:

Orphanet epidemiological data:

58
arrhythmogenic right ventricular cardiomyopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Italy),1-5/10000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adolescent,young Adult;

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
KEGG 36 H00293
MeSH 43 D019571
NCIt 49 C84571
MESH via Orphanet 44 D019571
ICD10 via Orphanet 33 I42.8
UMLS via Orphanet 72 C0349788
Orphanet 58 ORPHA247
UMLS 71 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

KEGG : 36 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death.

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, 13. 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 Antihypertensive Agents and Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and cardiac myocytes, 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. ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.

NIH Rare Diseases : 52 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 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 ARVC often develop abnormal heart rhythms known as arrhythmias , which can increase the risk of sudden cardiac arrest or death. Other symptoms of ARVC include chest palpitations, dizziness, fainting and shortness of breath. Often, sudden cardiac death can be the first sign of ARVC. ARVC is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVC 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 .

Wikipedia : 74 Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or... 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 237)
# Related Disease Score Top Affiliating Genes
1 naxos disease 35.1 PKP2 JUP DSP DSC2
2 arrhythmogenic right ventricular dysplasia, familial, 13 35.1 TGFB3 RYR2 PKP2 DSP CTNNA3
3 arrhythmogenic right ventricular dysplasia, familial, 10 34.7 TMEM43 RYR2 PKP2 JUP DSP DSG2
4 arrhythmogenic right ventricular dysplasia, familial, 11 34.7 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
5 arrhythmogenic right ventricular dysplasia, familial, 5 34.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
6 arrhythmogenic right ventricular dysplasia, familial, 8 34.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
7 arrhythmogenic right ventricular dysplasia, familial, 9 34.7 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
8 arrhythmogenic right ventricular dysplasia, familial, 12 34.7 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
9 myopathy, myofibrillar, 1 34.7 TTN DMD DES
10 arrhythmogenic right ventricular dysplasia, familial, 1 34.6 TTN TMEM43 TGFB3 RYR2 PKP2 JUP
11 arrhythmogenic right ventricular dysplasia, familial, 2 34.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
12 arrhythmogenic right ventricular dysplasia, familial, 3 34.5 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
13 arrhythmogenic right ventricular dysplasia, familial, 4 34.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
14 arrhythmogenic right ventricular dysplasia, familial, 6 34.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
15 atrial standstill 1 33.5 TTN SCN5A RYR2 PKP2 LMNA JUP
16 cardiac conduction defect 33.0 SCN5A RYR2 LMNA DSP
17 syncope 32.8 TTN SCN5A RYR2 ACTN2
18 ventricular fibrillation, paroxysmal familial, 1 32.6 SCN5A RYR2 DSP CACNA1C
19 left bundle branch hemiblock 32.5 TMEM43 SCN5A RYR2 PKP2 LMNA JUP
20 cardiac arrest 32.4 TTN TMEM43 SCN5A RYR2 DSP DSG2
21 palmoplantar keratosis 32.3 PKP2 JUP GJA1 DSP DSG2 DSC2
22 congestive heart failure 32.2 TTN SCN5A RYR2 CACNA1C ACTN2
23 right bundle branch block 32.2 SCN5A PKP2 CACNB2 CACNA1C
24 dilated cardiomyopathy 32.1 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
25 hypertrophic cardiomyopathy 32.1 TTN TGFB3 SCN5A RYR2 LMNA DSP
26 brugada syndrome 32.0 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
27 palmoplantar keratoderma and woolly hair 32.0 JUP DSP DSC2
28 heart disease 31.9 TTN TGFB3 SCN5A RYR2 PKP2 LMNA
29 rare cardiomyopathy 31.9 TTN RYR2 PKP2 LMNA DSP DSG2
30 cardiomyopathy, dilated, with woolly hair and keratoderma 31.9 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
31 atrioventricular block 31.8 TTN SCN5A RYR2 LMNA GJA1 DES
32 keratosis 31.8 GJA1 DSP DSG2
33 atrial heart septal defect 31.7 TTN SCN5A GJA1 DMD
34 myofibrillar myopathy 31.7 TTN LMNA DMD DES
35 sick sinus syndrome 31.6 TTN SCN5A LMNA CACNA1C
36 tetralogy of fallot 31.6 SCN5A RYR2 GJA1 ACTN2
37 catecholaminergic polymorphic ventricular tachycardia 31.6 TMEM43 SCN5A RYR2 PKP2 LMNA DSP
38 restrictive cardiomyopathy 31.6 TTN LMNA DSP DSG2 DMD DES
39 cardiac arrhythmia 31.5 SCN5A RYR2 PKP2 JUP CACNA1C
40 long qt syndrome 31.5 TTN TMEM43 SCN5A RYR2 PKP2 LMNA
41 pemphigus 31.4 JUP DSP DSG2 DSC2
42 emery-dreifuss muscular dystrophy 31.4 TMEM43 LMNA DMD DES
43 muscular dystrophy 31.3 TTN TMEM43 RYR2 PKP2 LMNA GJA1
44 first-degree atrioventricular block 31.3 SCN5A LMNA GJA1
45 skin disease 31.3 LMNA GJA1 DSP DSG2 CTNNB1
46 familial isolated dilated cardiomyopathy 31.3 TTN SCN5A DSG2 DMD DES ACTN2
47 atrial fibrillation 31.3 TTN SCN5A RYR2 LMNA GJA1 CACNA1C
48 miyoshi muscular dystrophy 31.2 TTN DMD DES
49 malignant hyperthermia 31.2 SCN5A RYR2 DMD CACNA1C
50 central core disease of muscle 30.8 RYR2 DES

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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 CACNA1C CACNB2 CDH2 CTNNA3 CTNNB1 DES
2 behavior/neurological MP:0005386 10.27 CACNA1C CTNNB1 DES DMD GJA1 JUP
3 cellular MP:0005384 10.27 CACNA1C CDH2 CTNNB1 DES DMD DSG2
4 mortality/aging MP:0010768 10.21 CACNA1C CACNB2 CDH2 CTNNA3 CTNNB1 DES
5 embryo MP:0005380 10.18 CACNA1C CACNB2 CDH2 CTNNB1 DSP GJA1
6 growth/size/body region MP:0005378 10.15 CACNB2 CDH2 CTNNB1 DMD DSP GJA1
7 homeostasis/metabolism MP:0005376 10.13 CACNA1C CACNB2 CDH2 CTNNB1 DES DMD
8 muscle MP:0005369 10.03 CACNA1C CDH2 CTNNA3 CTNNB1 DES DMD
9 craniofacial MP:0005382 9.98 CACNB2 CTNNB1 DSP GJA1 LMNA TGFB3
10 nervous system MP:0003631 9.73 CACNA1C CACNB2 CDH2 CTNNB1 DMD DSP
11 normal MP:0002873 9.28 CTNNB1 DMD GJA1 JUP LMNA RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antihypertensive Agents Phase 4
2 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
3
Eplerenone Approved Phase 3 107724-20-9 150310 443872
4
Ramipril Approved Phase 3 87333-19-5 5362129
5 Diuretics, Potassium Sparing Phase 3
6 Hormone Antagonists Phase 3
7 Mineralocorticoids Phase 3
8 Natriuretic Agents Phase 3
9 Mineralocorticoid Receptor Antagonists Phase 3
10 diuretics Phase 3
11 Hormones Phase 3
12
protease inhibitors Phase 3
13 HIV Protease Inhibitors Phase 3
14 Angiotensin-Converting Enzyme Inhibitors Phase 3
15 Anti-Arrhythmia Agents Phase 2
16 Sodium Channel Blockers Phase 2
17
Isoproterenol Approved, Investigational 7683-59-2 3779
18
Ajmaline Approved, Experimental 4360-12-7 441080
19 Lorajmine Experimental 47562-08-3
20 Adrenergic Agonists
21 Sympathomimetics
22 Neurotransmitter Agents
23 Adrenergic beta-Agonists
24 Anti-Asthmatic Agents
25 Respiratory System Agents
26 Autonomic Agents
27 Bronchodilator Agents
28 Protective Agents
29 Adrenergic Agents
30 Natriuretic Peptide, Brain

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of Medical Therapy Versus Medical Therapy Plus Renal Artery Stenting in Preventing the Progression of Renal Failure in Atherosclerotic Renovascular Disease Unknown status NCT01023373 Phase 4 Medical treatment
2 PHOspholamban RElated CArdiomyopathy STudy - Intervention (Efficacy Study of Eplerenone in Presymptomaticphospholamban R14del Carriers) Active, not recruiting NCT01857856 Phase 3 Eplerenone
3 Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD: a Double-blind Multicentre Prospective Randomized Study. Not yet recruiting NCT03593317 Phase 3 Ramipril;Placebo
4 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
5 Pilot Randomized Trial With Flecainide in ARVC Patients Not yet recruiting NCT03685149 Phase 2 Flecainide Pill;Placebo
6 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
7 Primary Endo- and Epicardial vs. Endocardial Ablation of Sustained Ventricular Tachycardia in Patients With Underlying Cardiac Disease (VTeee) Unknown status NCT01767220
8 DZHK TranslatiOnal Registry for CardiomyopatHies Deutsches Zentrum für Herz- Und Kreislauf-Forschung (DZHK) Unknown status NCT02187263
9 Prevelance of Fragmented QRS Complex and Prolonged QT Interval in Cirrhotic Patients and Its Correlation With the Severity of the Disease Unknown status NCT03158701
10 Comparison Between Standard and Bedside Ultrasound Integrated Approach for Risk Stratification of Patients Presenting With Syncope in the Emergency Department Unknown status NCT02781207
11 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
12 Genetic Study of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
13 The Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia From Real World Autoptic Data: Diagnosis in the Absence of Clinical Criteria Completed NCT03900208
14 The Role of High Density Surface Cardiac Electrographic Mapping in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy :A Pilot Study Completed NCT02291393
15 Utility of Isoproterenol Challenge Test to Detect Disease in Patients With Incomplete Diagnostic Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
16 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
17 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
18 Diagnostic Yield of an Ambulatory Patch Monitor in Emergency Department Syncope Patients Unexplained After Emergency Department Evaluation: A Pilot Study (PATCH-ED) Completed NCT02683174
19 Routine vs Selective Cardiac Magnetic Resonance in Non-Ischemic Heart Failure (OUTSMART-HF) Project I-B of Imaging Modalities to Assist With Guiding Therapy and the Evaluation of Patients With Heart Failure (IMAGE-HF) Completed NCT01281384
20 Renal Atherosclerotic Revascularization Evaluation: RAVE Study Completed NCT00127738
21 MRI Assessment of the Effect of Preload on Ventricular Volumes and Function in Healthy Adult Volunteers Completed NCT01678040
22 Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018
23 An Integrative-omics Study to Identify New Biomarkers of Cardiomyopathy Patients in China Recruiting NCT03076580
24 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
25 Metabolomic Study of Patients With Cardiomyopathy in China Recruiting NCT03061994
26 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
27 PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC - a Feasibility Study Recruiting NCT02989480
28 The Mayo Clinic Arrhythmogenic Ventricular Cardiomyopathy Registry and Biobank Recruiting NCT03049254
29 "Ventricular Tachycardia Ablation Registry". Italian Registry of Substrate Mapping and VT Ablation With the Precision Mapping System and Flexability Catheter. Recruiting NCT03649022
30 Arrhythmogenic Substrate Assessment in Patients With Primary Cardiomyopathies. A Prospective Follow-up Study Recruiting NCT03304847
31 China Structural Ventricular Arrhythmias Registry, a Multicenter,Observational and Prospective Study. Recruiting NCT03821051
32 Feasibility of Improving Risk Stratification in Brugada Syndrome Recruiting NCT03992677
33 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Recruiting NCT00292032
34 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Recruiting NCT04124237
35 Essential Arterial Hypotension and Allostasis Registry Recruiting NCT02018497
36 Kidney Transplantation and Renal and Myocardial Perfusion Active, not recruiting NCT02960802
37 Sahlgrenska University Hospital Cardiomyopathy Project: Mapping and Diagnosis of Cardiomyopathies to Enable Early and Specific Treatment Enrolling by invitation NCT03527342
38 Canadian National Arrhythmogenic Right Ventricular Cardiomyopathy Enrolling by invitation NCT01804699
39 Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank: Improving Detection and Treatment of Inherited Heart Rhythm Disorders to Prevent Sudden Death Enrolling by invitation NCT04189822
40 Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic 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:

40
Heart, Testes, Cardiac Myocytes, Adipocyte, Skin, Brain, Kidney

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 2722)
# Title Authors PMID Year
1
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 54 61 24
20031616 2009
2
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 54 61 24
18957847 2009
3
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. 54 61 24
17924338 2007
4
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 54 61 24
17010805 2006
5
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 54 61 24
16917092 2006
6
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. 54 61 24
15639475 2005
7
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 54 61 24
11691526 2001
8
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 54 61 24
10902626 2000
9
Arrhythmogenic Right Ventricular Cardiomyopathy: Risk Stratification and Indications for Defibrillator Therapy. 61 24
27147509 2016
10
Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy. 61 24
25825460 2016
11
2015 update on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy. 61 24
26569086 2016
12
Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement. 61 24
26216213 2015
13
Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. 61 24
25896080 2015
14
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 61 24
25820315 2015
15
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 61 24
25616645 2015
16
The ARVD/C genetic variants database: 2014 update. 61 24
25676813 2015
17
Importance of CMR within the Task Force Criteria for the diagnosis of ARVC in children and adolescents. 61 24
25766945 2015
18
Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy. 61 24
25837155 2015
19
Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. 61 24
24938629 2014
20
Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. 61 24
25497880 2014
21
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. 61 24
25157032 2014
22
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 61 24
24503780 2014
23
TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. 61 24
25343256 2014
24
Successful obstetric management of arrhythmogenic right ventricular cardiomyopathy. 61 24
25402595 2014
25
Arrhythmogenic right ventricular cardiomyopathy in pregnancy. 61 24
24898597 2014
26
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 61 24
24125834 2013
27
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 61 24
24070718 2013
28
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. 61 24
23486541 2013
29
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 61 24
23812740 2013
30
Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 61 24
23871885 2013
31
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 61 24
23299917 2013
32
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. 61 24
22889254 2013
33
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 61 24
23168288 2013
34
Electrophysiological characteristics of ventricular tachyarrhythmias in cardiac sarcoidosis versus arrhythmogenic right ventricular cardiomyopathy. 61 24
23070261 2013
35
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. 61 24
23136403 2013
36
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 61 24
22820313 2012
37
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 61 24
22395865 2012
38
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. 61 24
22199124 2012
39
Imaging study of ventricular scar in arrhythmogenic right ventricular cardiomyopathy: comparison of 3D standard electroanatomical voltage mapping and contrast-enhanced cardiac magnetic resonance. 61 24
22139887 2012
40
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients. 61 24
22214898 2012
41
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 61 24
21214875 2011
42
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. 61 24
21810661 2011
43
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 61 24
21397041 2011
44
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. 61 24
21606390 2011
45
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. 61 24
21606396 2011
46
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. 61 24
21636032 2011
47
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. 61 24
20829228 2010
48
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 61 24
20864495 2010
49
Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. 61 24
20823389 2010
50
Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. 61 24
20525856 2010

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6 (show top 50) (show all 1032) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKP2 NM_004572.3(PKP2):c.1643del (p.Gly548fs)deletion Pathogenic 202035 rs794729137 12:32994007-32994007 12:32841073-32841073
2 PKP2 NM_004572.3(PKP2):c.256dup (p.Tyr86fs)duplication Pathogenic 202010 rs794729120 12:33031933-33031934 12:32878999-32879000
3 TMEM43 NM_024334.2(TMEM43):c.1073C>T (p.Ser358Leu)SNV Pathogenic 734 rs63750743 3:14183165-14183165 3:14141665-14141665
4 PKP2 NM_004572.3(PKP2):c.235C>T (p.Arg79Ter)SNV Pathogenic 6754 rs121434420 12:33031955-33031955 12:32879021-32879021
5 PKP2 NM_004572.3(PKP2):c.2203C>T (p.Arg735Ter)SNV Pathogenic 6755 rs121434421 12:32955433-32955433 12:32802499-32802499
6 PKP2 NM_004572.3(PKP2):c.2146-1G>CSNV Pathogenic 6756 rs193922674 12:32955491-32955491 12:32802557-32802557
7 PKP2 NM_004572.3(PKP2):c.2489+1G>ASNV Pathogenic 6757 rs111517471 12:32949042-32949042 12:32796108-32796108
8 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
9 DSG2 NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)SNV Pathogenic 16812 rs121913008 18:29099821-29099821 18:31519858-31519858
10 DSG2 NM_001943.5(DSG2):c.1771_1772TG[1] (p.Cys591_Glu592delinsTer)short repeat Pathogenic 44286 rs397516703 18:29118833-29118834 18:31538870-31538871
11 DSP NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)deletion Pathogenic 44892 rs397516932 6:7579580-7579589 6:7579347-7579356
12 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)SNV Pathogenic 44914 rs397516940 6:7580954-7580954 6:7580721-7580721
13 PKP2 NM_004572.3(PKP2):c.1211dup (p.Val406fs)duplication Pathogenic 45015 rs397516989 12:33003866-33003867 12:32850932-32850933
14 PKP2 NM_004572.3(PKP2):c.1237C>T (p.Arg413Ter)SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
15 PKP2 NM_004572.3(PKP2):c.1132C>T (p.Gln378Ter)SNV Pathogenic 45010 rs397516986 12:33021899-33021899 12:32868965-32868965
16 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs)deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
17 PKP2 NM_004572.3(PKP2):c.1912C>T (p.Gln638Ter)SNV Pathogenic 45049 rs397517012 12:32975460-32975460 12:32822526-32822526
18 PKP2 NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs)duplication Pathogenic 45051 rs397517013 12:32975416-32975417 12:32822482-32822483
19 PKP2 NM_004572.3(PKP2):c.1999G>T (p.Glu667Ter)SNV Pathogenic 45054 rs397517015 12:32974436-32974436 12:32821502-32821502
20 PKP2 NM_004572.3(PKP2):c.2489+1G>TSNV Pathogenic 45071 rs111517471 12:32949042-32949042 12:32796108-32796108
21 PKP2 NM_001005242.2(PKP2):c.2065_2070delinsG (p.His689fs)indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
22 CTNNA3 NM_013266.4(CTNNA3):c.2293_2295TTG[1] (p.Leu766del)short repeat Pathogenic 100657 rs587777135 10:67726472-67726474 10:65966714-65966716
23 SCN5A NM_198056.2(SCN5A):c.6048G>A (p.Val2016=)SNV Pathogenic 403733 rs1060499941 3:38591815-38591815 3:38550324-38550324
24 SCN5A NM_198056.2(SCN5A):c.2184_2186del (p.Leu729del)deletion Pathogenic 403732 rs1060499940 3:38639296-38639298 3:38597805-38597807
25 DSP NM_004415.4(DSP):c.3474dup (p.Glu1159fs)duplication Pathogenic 517147 rs727503000 6:7579896-7579897 6:7579663-7579664
26 PKP2 NM_004572.3(PKP2):c.273_277del (p.His91_Leu92insTer)deletion Pathogenic 523702 rs1555148259 12:33031913-33031917 12:32878979-32878983
27 DSP NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)SNV Pathogenic 658277 6:7571676-7571676 6:7571443-7571443
28 DSP NM_004415.4(DSP):c.523C>T (p.Gln175Ter)SNV Pathogenic/Likely pathogenic 652401 6:7559559-7559559 6:7559326-7559326
29 DSP NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)SNV Pathogenic/Likely pathogenic 488983 rs1554108431 6:7581422-7581422 6:7581189-7581189
30 PKP2 NM_004572.3(PKP2):c.1138G>T (p.Glu380Ter)SNV Pathogenic/Likely pathogenic 496253 rs878898365 12:33021893-33021893 12:32868959-32868959
31 DSP NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)indel Pathogenic/Likely pathogenic 452266 rs1554108410 6:7581305-7581309 6:7581072-7581076
32 DSP NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)deletion Pathogenic/Likely pathogenic 464963 rs1554108287 6:7580728-7580732 6:7580495-7580499
33 DSP NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)SNV Pathogenic/Likely pathogenic 464961 rs1554108012 6:7579556-7579556 6:7579323-7579323
34 PKP2 NM_004572.3(PKP2):c.1760del (p.Val587fs)deletion Pathogenic/Likely pathogenic 45046 rs397517009 12:32977025-32977025 12:32824091-32824091
35 PKP2 NM_004572.3(PKP2):c.1821dup (p.Val608fs)duplication Pathogenic/Likely pathogenic 45047 rs397517010 12:32975550-32975551 12:32822616-32822617
36 PKP2 NM_004572.3(PKP2):c.1688+1G>ASNV Pathogenic/Likely pathogenic 45038 rs397517003 12:32993961-32993961 12:32841027-32841027
37 PKP2 NM_004572.3(PKP2):c.1170+2T>ASNV Pathogenic/Likely pathogenic 45011 rs397516987 12:33021859-33021859 12:32868925-32868925
38 PKP2 NM_004572.3(PKP2):c.1378+1G>CSNV Pathogenic/Likely pathogenic 45022 rs397516994 12:33003699-33003699 12:32850765-32850765
39 PKP2 NM_004572.3(PKP2):c.14del (p.Gly5fs)deletion Pathogenic/Likely pathogenic 45027 rs397516996 12:33049652-33049652 12:32896718-32896718
40 DSC2 NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)SNV Pathogenic/Likely pathogenic 46199 rs397517406 18:28666635-28666635 18:31086672-31086672
41 DSP NM_004415.4(DSP):c.478C>T (p.Arg160Ter)SNV Pathogenic/Likely pathogenic 44922 rs397516943 6:7559514-7559514 6:7559281-7559281
42 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter)SNV Pathogenic/Likely pathogenic 44946 rs397516955 6:7562986-7562986 6:7562753-7562753
43 DSG2 NM_001943.5(DSG2):c.523+2T>CSNV Pathogenic/Likely pathogenic 44321 rs397516709 18:29101208-29101208 18:31521245-31521245
44 DSP NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)SNV Pathogenic/Likely pathogenic 44856 rs397516915 6:7568676-7568676 6:7568443-7568443
45 DSG2 NM_001943.5(DSG2):c.1880-2A>GSNV Pathogenic/Likely pathogenic 16817 rs397514038 18:29121154-29121154 18:31541191-31541191
46 DSP NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)SNV Pathogenic/Likely pathogenic 228253 rs876657638 6:7571787-7571787 6:7571554-7571554
47 DSG2 NM_001943.5(DSG2):c.146G>A (p.Arg49His)SNV Pathogenic/Likely pathogenic 16810 rs121913006 18:29099830-29099830 18:31519867-31519867
48 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
49 PKP2 NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter)SNV Pathogenic/Likely pathogenic 36680 rs193922672 12:32994037-32994037 12:32841103-32841103
50 PKP2 NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter)SNV Pathogenic/Likely pathogenic 36682 rs193922673 12:32974407-32974407 12:32821473-32821473

Copy number variations for Arrhythmogenic Right Ventricular Cardiomyopathy from CNVD:

7
# CNVD ID Chromosome 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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SCN5A PKP2 JUP DSP DSG2 DSC2
2
Show member pathways
12.81 TGFB3 JUP CTNNB1 CTNNA3 CDH2 ACTN2
3
Show member pathways
12.7 TTN SCN5A RYR2 DMD DES CACNB2
4
Show member pathways
12.57 RYR2 LMNA DMD CACNB2 CACNA1C
5 12.41 LMNA JUP GJA1 DES
6
Show member pathways
12.38 PKP2 JUP DSP DSG2 DSC2
7
Show member pathways
12.13 TTN TGFB3 RYR2 LMNA DMD DES
8 12.07 SCN5A RYR2 GJA1 CTNNB1
9 12.03 RYR2 CTNNB1 CDH2 CACNB2 CACNA1C
10 11.94 JUP GJA1 DSP CTNNB1 CDH2
11
Show member pathways
11.88 LMNA DSP DSG2 CTNNB1
12
Show member pathways
11.82 PKP2 DSP DES
13 11.75 JUP GJA1 CTNNB1
14 11.71 RYR2 CACNB2 CACNA1C
15
Show member pathways
11.71 RYR2 PKP2 LMNA JUP GJA1 DSP
16 11.65 TTN DMD DES ACTN2
17
Show member pathways
11.64 SCN5A CACNB2 CACNA1C
18 11.52 CTNNB1 CACNB2 CACNA1C
19 11.43 RYR2 CACNB2 CACNA1C
20 11.34 JUP CTNNB1 CTNNA3 CDH2
21 11.32 JUP CTNNB1 CTNNA3 CDH2 ACTN2
22 11.31 SCN5A RYR2 LMNA JUP GJA1 DSP
23 11.23 GJA1 CTNNB1 CDH2
24 11.2 JUP GJA1 DSP CTNNB1 CTNNA3 CDH2

GO Terms for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 TTN TGFB3 SCN5A PKP2 JUP GJA1
2 plasma membrane GO:0005886 10.4 TGFB3 SCN5A RYR2 PKP2 JUP GJA1
3 cytoskeleton GO:0005856 10.14 JUP DSP DMD DES CTNNB1 CTNNA3
4 cell junction GO:0030054 10.1 PKP2 JUP GJA1 DSP DSG2 DSC2
5 focal adhesion GO:0005925 9.97 JUP GJA1 CTNNB1 CDH2 ACTN2
6 intermediate filament GO:0005882 9.92 PKP2 LMNA JUP DSP DES
7 cell-cell adherens junction GO:0005913 9.91 PKP2 JUP DSC2 CTNNB1 CDH2
8 adherens junction GO:0005912 9.88 PKP2 JUP CTNNB1 CTNNA3 CDH2
9 sarcolemma GO:0042383 9.87 SCN5A RYR2 DMD DES CDH2 CACNB2
10 lamellipodium GO:0030027 9.86 DMD CTNNB1 CTNNA3 CDH2
11 cell-cell junction GO:0005911 9.86 PKP2 JUP DSP DSG2 DSC2 DES
12 lateral plasma membrane GO:0016328 9.85 SCN5A JUP DSG2 DMD CTNNB1
13 cornified envelope GO:0001533 9.83 PKP2 JUP DSP DSG2 DSC2
14 Z disc GO:0030018 9.81 TTN SCN5A RYR2 JUP DMD DES
15 desmosome GO:0030057 9.77 PKP2 JUP DSP DSG2 DSC2
16 sarcomere GO:0030017 9.75 TTN RYR2 ACTN2
17 T-tubule GO:0030315 9.72 TGFB3 SCN5A CACNA1C
18 catenin complex GO:0016342 9.71 JUP CTNNB1 CDH2
19 L-type voltage-gated calcium channel complex GO:1990454 9.58 CACNB2 CACNA1C
20 fascia adherens GO:0005916 9.5 JUP GJA1 DSP DES CTNNB1 CTNNA3
21 intercalated disc GO:0014704 9.32 SCN5A PKP2 JUP GJA1 DSP DSG2

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.03 PKP2 JUP DSG2 DSC2 CTNNB1 CTNNA3
2 regulation of apoptotic process GO:0042981 9.96 TGFB3 GJA1 CTNNB1 ACTN2
3 keratinization GO:0031424 9.96 PKP2 JUP DSP DSG2 DSC2
4 heart development GO:0007507 9.95 PKP2 GJA1 CTNNB1 CACNA1C
5 protein localization to plasma membrane GO:0072659 9.92 PKP2 JUP CDH2 CACNB2 ACTN2
6 muscle contraction GO:0006936 9.88 TTN GJA1 DES ACTN2
7 cornification GO:0070268 9.88 PKP2 JUP DSP DSG2 DSC2
8 cell-cell adhesion GO:0098609 9.86 PKP2 JUP DSP DSG2 DSC2 CTNNB1
9 cardiac muscle contraction GO:0060048 9.81 TTN SCN5A RYR2 DMD
10 cellular protein localization GO:0034613 9.8 GJA1 DMD CTNNB1
11 adherens junction organization GO:0034332 9.8 JUP DSP CTNNB1 CDH2
12 cardiac conduction GO:0061337 9.79 SCN5A CACNB2 CACNA1C
13 skin development GO:0043588 9.77 JUP DSP CTNNB1
14 regulation of heart rate GO:0002027 9.76 SCN5A RYR2 DMD
15 muscle filament sliding GO:0030049 9.76 TTN DMD DES ACTN2
16 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.74 RYR2 DMD CACNA1C
17 ventricular cardiac muscle cell action potential GO:0086005 9.72 SCN5A RYR2 PKP2
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.71 SCN5A PKP2 CACNA1C
19 response to muscle stretch GO:0035994 9.67 RYR2 DMD
20 positive regulation of sodium ion transport GO:0010765 9.66 SCN5A PKP2
21 calcium ion transport into cytosol GO:0060402 9.65 RYR2 CACNA1C
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.65 SCN5A CACNA1C
23 response to denervation involved in regulation of muscle adaptation GO:0014894 9.64 SCN5A DMD
24 cardiac muscle hypertrophy GO:0003300 9.64 TTN RYR2
25 atrial cardiac muscle cell action potential GO:0086014 9.63 SCN5A GJA1
26 regulation of voltage-gated calcium channel activity GO:1901385 9.63 DMD CACNB2
27 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.63 PKP2 JUP DSP DSG2 DSC2 CTNNA3
28 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.62 RYR2 PKP2 GJA1 CACNA1C
29 cellular response to indole-3-methanol GO:0071681 9.61 JUP CTNNB1
30 desmosome organization GO:0002934 9.61 DSP DSG2
31 desmosome assembly GO:0002159 9.59 PKP2 JUP
32 membrane depolarization during AV node cell action potential GO:0086045 9.58 SCN5A CACNB2 CACNA1C
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 RYR2 PKP2 JUP DSP DSG2 DSC2
34 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.54 SCN5A CACNB2 CACNA1C
35 regulation of heart rate by cardiac conduction GO:0086091 9.28 SCN5A PKP2 JUP DSP DSG2 DSC2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
2 calcium ion binding GO:0005509 9.97 TTN RYR2 DSG2 DSC2 CDH2 ACTN2
3 enzyme binding GO:0019899 9.88 TTN SCN5A RYR2 CTNNB1 CDH2
4 calmodulin binding GO:0005516 9.84 TTN SCN5A RYR2 CACNA1C
5 actin filament binding GO:0051015 9.83 TTN CTNNA3 CACNB2 ACTN2
6 cadherin binding GO:0045296 9.8 PKP2 JUP CTNNB1 CTNNA3 CDH2
7 protein kinase binding GO:0019901 9.8 TTN SCN5A RYR2 JUP CTNNB1 CDH2
8 structural constituent of cytoskeleton GO:0005200 9.78 DSP DMD DES
9 calcium channel activity GO:0005262 9.77 RYR2 CACNB2 CACNA1C
10 cytoskeletal protein binding GO:0008092 9.76 DES CDH2 ACTN2
11 protein phosphatase binding GO:0019903 9.75 JUP CTNNB1 CDH2
12 beta-catenin binding GO:0008013 9.74 GJA1 CTNNA3 CDH2
13 cell adhesion molecule binding GO:0050839 9.72 JUP DSP DSG2
14 protein self-association GO:0043621 9.69 TTN TMEM43 RYR2
15 structural constituent of muscle GO:0008307 9.63 TTN DMD ACTN2
16 nitric-oxide synthase binding GO:0050998 9.6 SCN5A DMD
17 high voltage-gated calcium channel activity GO:0008331 9.56 CACNB2 CACNA1C
18 ion channel binding GO:0044325 9.55 SCN5A RYR2 PKP2 CTNNB1 ACTN2
19 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.43 CACNB2 CACNA1C
20 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.37 CACNB2 CACNA1C
21 alpha-catenin binding GO:0045294 9.26 PKP2 JUP CTNNB1 CDH2
22 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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