MCID: ARR042
MIFTS: 56

Arrhythmogenic Right Ventricular Cardiomyopathy

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 12 23 50 24 25 29 14
Arrhythmogenic Right Ventricular Dysplasia 12 50 24 25 52 42 69
Arvc 12 23 50 24 25
Arvd 12 23 50 24 25
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 24 25 29
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25
Ventricular Dysplasia, Right, Arrhythmogenic 25
Right Ventricular Dysplasia, Arrhythmogenic 25
Arvc Cardiomyopathy 12
Arvd/c 25

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 42 D019571
NCIt 47 C84571
SNOMED-CT 64 253528005 281170005
UMLS 69 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

NIH Rare Diseases : 50 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 arrhythmogenic right ventricular dysplasia 8 and arrhythmogenic right ventricular dysplasia 12. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Developmental Biology and Sertoli-Sertoli Cell Junction Dynamics. 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 cellular

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 : 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 90)
id Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia 8 33.3 DSP JUP
2 arrhythmogenic right ventricular dysplasia 12 33.3 DSC2 DSP JUP PKP2
3 arrhythmogenic right ventricular dysplasia 2 33.0 JUP RYR1 RYR2
4 ectodermal dysplasia 29.5 ACTN2 DES DMD DSP GJA1 JUP
5 arrhythmogenic right ventricular dysplasia/cardiomyopathy 9 12.3
6 arrhythmogenic right ventricular dysplasia/cardiomyopathy 5 12.3
7 arrhythmogenic right ventricular dysplasia/cardiomyopathy 6 12.3
8 arrhythmogenic right ventricular dysplasia/cardiomyopathy 7 12.3
9 arrhythmogenic right ventricular dysplasia/cardiomyopathy 8 12.3
10 arrhythmogenic right ventricular dysplasia/cardiomyopathy 1 12.3
11 arrhythmogenic right ventricular dysplasia/cardiomyopathy 2 12.3
12 arrhythmogenic right ventricular dysplasia/cardiomyopathy 3 12.3
13 arrhythmogenic right ventricular dysplasia/cardiomyopathy 4 12.3
14 naxos disease 12.0
15 arrhythmogenic right ventricular dysplasia, familial, 13 11.8
16 arrhythmogenic right ventricular dysplasia 9 11.4
17 arrhythmogenic right ventricular dysplasia 11 11.4
18 arrhythmogenic right ventricular dysplasia 10 11.4
19 myopathy, myofibrillar, 1 11.4
20 arrhythmogenic right ventricular dysplasia 5 11.4
21 arrhythmogenic right ventricular dysplasia 1 11.3
22 arrhythmogenic right ventricular dysplasia/cardiomyopathy13 11.2
23 familial isolated arrhythmogenic right ventricular dysplasia 11.2
24 arrhythmogenic right ventricular dysplasia 3 11.2
25 arrhythmogenic right ventricular dysplasia 4 11.2
26 arrhythmogenic right ventricular dysplasia 6 11.2
27 cardiomyopathy 11.2
28 woolly hair syndrome 11.1
29 extrasystoles short stature hyperpigmentation microcephaly 10.9 DES DMD
30 hypercholesterolemia, familial 10.9 DSC2 DSP JUP
31 ectodermal dysplasia/skin fragility syndrome 10.9 DSC2 DSP JUP
32 dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 10.9 DSP JUP
33 retinitis pigmentosa 4, autosomal dominant or recessive 10.8 DSC2 DSP JUP
34 d-minus hemolytic uremic syndrome 10.8 DES DMD
35 growth retardation hydrocephaly lung hypoplasia 10.8 DSP JUP
36 classic hairy cell leukemia 10.8 DSC2 DSG2 DSP
37 acrokeratosis verruciformis 10.8 DSC2 DSP JUP
38 peripheral t-cell lymphoma 10.8 DSG2 DSP JUP
39 minicore myopathy with external ophthalmoplegia 10.6 DES RYR1 RYR2
40 dyskinesia of esophagus 10.6 DSG2 DSP JUP
41 vesicoureteral reflux 7 10.5 DSP JUP PKP2 RYR2 TGFB3
42 loeys-dietz syndrome 5 10.5 DSP JUP PKP2 RYR2 TGFB3
43 prostate cancer, hereditary, 2 10.5 DSP SCN5A
44 microcephaly and chorioretinopathy 1 10.5 DMD LMNA RYR1
45 eosinophilic variant of chromophobe renal cell carcinoma 10.5 DMD LMNA RYR1
46 emery-dreifuss muscular dystrophy 2, ad 10.5 LMNA TMEM43
47 parametrium malignant neoplasm 10.5 DMD LMNA TMEM43
48 mylk-related thoracic aortic aneurysms and aortic dissections 10.4 DES LMNA SCN5A
49 sdccag8-related bardet-biedl syndrome 10.4 DES LMNA SCN5A
50 sick sinus syndrome 1 10.4 DSP RYR2 SCN5A

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 CDH2 CTNNA3 CTNNB1 DES DMD DSC2
2 cellular MP:0005384 10.15 CDH2 CTNNB1 DES DMD DSG2 DSP
3 behavior/neurological MP:0005386 10.13 CTNNB1 DES DMD GJA1 LMNA RYR1
4 mortality/aging MP:0010768 10.13 GJA1 JUP LMNA PKP2 RYR1 RYR2
5 muscle MP:0005369 9.97 GJA1 JUP LMNA PKP2 RYR1 RYR2
6 embryo MP:0005380 9.92 CDH2 CTNNB1 DSP GJA1 JUP RYR2
7 normal MP:0002873 9.56 CTNNB1 DMD GJA1 JUP LMNA RYR2
8 respiratory system MP:0005388 9.17 CTNNB1 DMD GJA1 JUP LMNA RYR1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 3 107724-20-9 150310 443872
2
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
3 diuretics Phase 3
4 Diuretics, Potassium Sparing Phase 3,Phase 1,Phase 2
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 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)

id 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 Recruiting 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 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829
8 The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Completed NCT02291393
9 Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
10 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
11 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
12 DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018
13 PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC Recruiting NCT02989480
14 Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency Department Recruiting NCT02781207
15 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
16 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
17 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
18 German Centre for Cardiovascular Research Cardiomyopathy Register Recruiting NCT02187263
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:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy 29
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 29 24 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

39
Heart, Testes, Pancreas, Brain, Eye

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 284)
id Title Authors Year
1
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28402769 )
2017
2
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. ( 28431057 )
2017
3
Electrical Storm in ICD Recipients with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28261825 )
2017
4
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. ( 28523642 )
2017
5
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
6
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. ( 28431055 )
2017
7
Asymptomatic course of arrhythmogenic right ventricular cardiomyopathy. ( 28895994 )
2017
8
Characterization of the arrhythmogenic substrate in patients with arrhythmogenic right ventricular cardiomyopathy undergoing ventricular tachycardia ablation. ( 28371837 )
2017
9
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
10
Cavopulmonary Anastomosis in a Patient With Arrhythmogenic Right Ventricular Cardiomyopathy With Severe Right Ventricular Dysfunction. ( 28825387 )
2017
11
Arrhythmogenic Right Ventricular Cardiomyopathy in an Endurance Athlete Presenting with Ventricular Tachycardia and Normal Right Ventricular Function. ( 28878587 )
2017
12
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2. ( 28818065 )
2017
13
Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28256248 )
2017
14
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. ( 28527814 )
2017
15
Expression of plakoglobin in the myocardium was reduced in an elderly patient with arrhythmogenic right ventricular cardiomyopathy. ( 28741882 )
2017
16
First Reported Case of Arrhythmogenic Right Ventricular Cardiomyopathy in Oman. ( 28804588 )
2017
17
Should epsilon wave be considered as a major diagnostic criterion in arrhythmogenic right ventricular cardiomyopathy? ( 28326523 )
2017
18
Arrhythmogenic right-ventricular cardiomyopathy and cardiac microvascular disease: a rare association or a possible link? ( 28857927 )
2017
19
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy. ( 28253841 )
2017
20
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28280076 )
2017
21
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28406281 )
2017
22
Heart Failure Is Common and Under-Recognized in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia. ( 28874384 )
2017
23
Galectin-3 correlates with arrhythmogenic right ventricular cardiomyopathy and predicts the risk of ventricular -arrhythmias in patients with implantable defibrillators. ( 28705047 )
2017
24
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors? ( 28465114 )
2017
25
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. ( 28067540 )
2017
26
Isolated Late Activation Detected by Magnetocardiography Predicts Future Lethal Ventricular Arrhythmic Events in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28855434 )
2017
27
A classic case of arrhythmogenic right ventricular cardiomyopathy (ARVC) and literature review. ( 28638576 )
2017
28
A novel noninvasive surface ECG analysis using interlead QRS dispersion in arrhythmogenic right ventricular cardiomyopathy. ( 28771538 )
2017
29
Surgical Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy with Absent Pulmonary Valve. ( 28524842 )
2017
30
Systematic review: Impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. ( 28342631 )
2017
31
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. ( 28767663 )
2017
32
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in a young female athlete at 36 weeks gestation: a case report. ( 28843747 )
2017
33
Mapping the Electrical Substrate in Arrhythmogenic Right Ventricular Cardiomyopathy: There Is More Than Meets the Eye. ( 28705880 )
2017
34
Arrhythmogenic Right Ventricular Cardiomyopathy in the Boxer Dog: An Update. ( 28647112 )
2017
35
Quality of life metrics in arrhythmogenic right ventricular cardiomyopathy patients: The impact of age, shock and sex. ( 28823501 )
2017
36
Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging. ( 28705875 )
2017
37
Radiofrequency Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ( 28779285 )
2017
38
Animal models of arrhythmogenic right ventricular cardiomyopathy: what have we learned and where do we go? Insight for therapeutics. ( 28688053 )
2017
39
Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl. ( 28373789 )
2017
40
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28052233 )
2017
41
Utility of speckle tracking echocardiography imaging in patients with asymptomatic and symptomatic arrhythmogenic right ventricular cardiomyopathy. ( 27599902 )
2016
42
The ventricular ectopic QRS interval (VEQSI): Diagnosis of arrhythmogenic right ventricular cardiomyopathy in patients with incomplete disease expression. ( 27016477 )
2016
43
Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy. ( 27939893 )
2016
44
Incremental value of electroanatomical mapping for the diagnosis of arrhythmogenic right ventricular cardiomyopathy in a patient with sustained ventricular tachycardia. ( 28491739 )
2016
45
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27150862 )
2016
46
Arrhythmogenic Right Ventricular Cardiomyopathy: Better Tools for Detecting Early Disease and Progression. ( 27855809 )
2016
47
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27855808 )
2016
48
Response to Letter Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". ( 26976921 )
2016
49
Embodying a New Meaning of Being At Risk: Living With an Implantable Cardioverter Defibrillator for Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28462346 )
2016
50
Massive Right Atrial Thrombus Formation Followed by an Atrial Flutter with 1:1 Atrioventricular Conduction in a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27522997 )
2016

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

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

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 ACTN2 CDH2 CTNNB1 DSC2 DSG2 DSP
2
Show member pathways
12.8 ACTN2 CDH2 CTNNA3 CTNNB1 JUP TGFB3
3
Show member pathways
12.71 ACTN2 DES DMD RYR1 RYR2 SCN5A
4 12.38 DES GJA1 JUP LMNA
5
Show member pathways
12.35 DSC2 DSG2 DSP JUP PKP2
6 12.06 CTNNB1 GJA1 RYR2 SCN5A
7 11.98 CDH2 CTNNB1 RYR1 RYR2
8
Show member pathways
11.87 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
9
Show member pathways
11.8 CTNNB1 DSG2 DSP LMNA
10
Show member pathways
11.79 DES DSP PKP2
11 11.76 CDH2 CTNNB1 DSP GJA1 JUP
12 11.72 CTNNB1 GJA1 JUP
13 11.69 CDH2 DES GJA1 TGFB3
14 11.59 ACTN2 DES DMD
15 11.38 DSP GJA1 JUP LMNA RYR2 SCN5A
16 11.27 CDH2 CTNNA3 CTNNB1 JUP
17 11.26 ACTN2 CDH2 CTNNA3 CTNNB1 JUP
18 11.15 CDH2 CTNNB1 GJA1
19 11 ACTN2 CDH2 CTNNA3 CTNNB1 DSP GJA1
20 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 23)
id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.98 ACTN2 CDH2 CTNNB1 GJA1 JUP
2 intermediate filament GO:0005882 9.91 DES DSP JUP LMNA PKP2
3 extracellular matrix GO:0031012 9.87 DSP JUP LMNA TGFB3
4 cell-cell junction GO:0005911 9.87 CDH2 CTNNB1 DES DSG2 DSP JUP
5 adherens junction GO:0005912 9.85 CDH2 CTNNA3 CTNNB1 JUP PKP2
6 sarcolemma GO:0042383 9.84 CDH2 DES DMD SCN5A
7 cell-cell adherens junction GO:0005913 9.83 CDH2 CTNNB1 DSC2 JUP
8 cornified envelope GO:0001533 9.8 DSC2 DSG2 DSP JUP PKP2
9 lateral plasma membrane GO:0016328 9.77 CTNNB1 DMD DSG2 JUP SCN5A
10 lamellipodium GO:0030027 9.75 CDH2 CTNNA3 CTNNB1
11 T-tubule GO:0030315 9.73 RYR1 SCN5A TGFB3
12 Z disc GO:0030018 9.7 ACTN2 CTNNB1 DES DMD JUP RYR2
13 catenin complex GO:0016342 9.65 CDH2 CTNNB1 JUP
14 desmosome GO:0030057 9.65 DSC2 DSG2 DSP JUP PKP2
15 intercalated disc GO:0014704 9.65 CDH2 CTNNB1 DES DSC2 DSG2 DSP
16 Set1C/COMPASS complex GO:0048188 9.61 DYDC1 DYDC2
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 10.37 ACTN2 CDH2 CTNNB1 DES DMD DSC2
20 extracellular exosome GO:0070062 10.29 ACTN2 CDH2 CTNNB1 DES DSC2 DSG2
21 cytoskeleton GO:0005856 10.14 ACTN2 CTNNA3 CTNNB1 DES DMD DSP
22 cell junction GO:0030054 10.09 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 35)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.95 GJA1 RYR1 RYR2 SCN5A
2 keratinization GO:0031424 9.91 DSC2 DSG2 DSP JUP PKP2
3 cell adhesion GO:0007155 9.86 ACTN2 CDH2 CTNNA3 CTNNB1 DSC2 DSG2
4 muscle contraction GO:0006936 9.83 ACTN2 DES GJA1 RYR1
5 cornification GO:0070268 9.8 DSC2 DSG2 DSP JUP PKP2
6 skin development GO:0043588 9.76 CTNNB1 DSP JUP RYR1
7 cardiac muscle contraction GO:0060048 9.75 DMD RYR2 SCN5A
8 muscle filament sliding GO:0030049 9.73 ACTN2 DES DMD
9 establishment of protein localization to plasma membrane GO:0090002 9.73 ACTN2 CDH2 JUP PKP2
10 regulation of heart rate GO:0002027 9.72 DMD RYR2 SCN5A
11 single organismal cell-cell adhesion GO:0016337 9.72 CTNNA3 CTNNB1 DSP JUP PKP2
12 regulation of heart rate by cardiac conduction GO:0086091 9.7 CTNNA3 DSC2 DSG2 DSP JUP PKP2
13 intermediate filament organization GO:0045109 9.67 DES DSP
14 ventricular cardiac muscle cell action potential GO:0086005 9.67 PKP2 RYR2 SCN5A
15 adherens junction organization GO:0034332 9.67 CDH2 CTNNB1 DSP JUP
16 response to muscle stretch GO:0035994 9.66 DMD RYR2
17 positive regulation of sodium ion transport GO:0010765 9.66 PKP2 SCN5A
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 PKP2 SCN5A
19 regulation of bicellular tight junction assembly GO:2000810 9.65 GJA1 PKP2
20 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.65 GJA1 PKP2 RYR2
21 response to denervation involved in regulation of muscle adaptation GO:0014894 9.64 DMD SCN5A
22 response to caffeine GO:0031000 9.64 RYR1 RYR2
23 adherens junction assembly GO:0034333 9.63 CTNNB1 JUP
24 atrial cardiac muscle cell action potential GO:0086014 9.63 GJA1 SCN5A
25 gap junction assembly GO:0016264 9.62 GJA1 PKP2
26 cellular response to caffeine GO:0071313 9.61 RYR1 RYR2
27 chromatin silencing at telomere GO:0006348 9.61 DYDC1 DYDC2
28 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.6 RYR1 RYR2
29 desmosome organization GO:0002934 9.59 DSG2 DSP
30 cellular response to indole-3-methanol GO:0071681 9.58 CTNNB1 JUP
31 desmosome assembly GO:0002159 9.57 JUP PKP2
32 cardiac muscle cell action potential GO:0086001 9.54 DMD PKP2
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
34 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2
35 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 16)
id 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 9.85 CDH2 CTNNB1 JUP RYR2 SCN5A
3 cadherin binding GO:0045296 9.84 CTNNA3 CTNNB1 JUP PKP2
4 enzyme binding GO:0019899 9.8 CDH2 CTNNB1 RYR1 RYR2 SCN5A
5 structural constituent of cytoskeleton GO:0005200 9.73 DES DMD DSP
6 protein phosphatase binding GO:0019903 9.67 CDH2 CTNNB1 JUP
7 cell adhesion molecule binding GO:0050839 9.65 DSG2 DSP JUP
8 histone methyltransferase activity (H3-K4 specific) GO:0042800 9.55 DYDC1 DYDC2
9 ion channel binding GO:0044325 9.55 ACTN2 CTNNB1 PKP2 RYR2 SCN5A
10 nitric-oxide synthase binding GO:0050998 9.52 DMD SCN5A
11 calcium-release channel activity GO:0015278 9.51 RYR1 RYR2
12 calcium-induced calcium release activity GO:0048763 9.37 RYR1 RYR2
13 ryanodine-sensitive calcium-release channel activity GO:0005219 9.32 RYR1 RYR2
14 alpha-catenin binding GO:0045294 9.26 CDH2 CTNNB1 JUP PKP2
15 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2
16 protein binding GO:0005515 10.21 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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