ARVC
MCID: ARR042
MIFTS: 56

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

Aliases & Descriptions for Arrhythmogenic Right Ventricular Cardiomyopathy:

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

Characteristics:

GeneReviews:

23
Penetrance In the single family with a pathogenic variant in dsp reported by rampazzo et al [2002], penetrance was estimated at 50%. other estimates of penetrance in kindreds with autosomal dominant arvd/c are as low as 20%-30% [sen-chowdhry et al 2005]...

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 2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy 9. 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 Spironolactone and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are cardiovascular system and cellular

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.

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.

Wikipedia : 71 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 88)
id Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia 2 32.3 DSG2 RYR2
2 arrhythmogenic right ventricular dysplasia/cardiomyopathy 9 12.3
3 arrhythmogenic right ventricular dysplasia/cardiomyopathy 1 12.3
4 arrhythmogenic right ventricular dysplasia/cardiomyopathy 2 12.3
5 arrhythmogenic right ventricular dysplasia/cardiomyopathy 3 12.3
6 arrhythmogenic right ventricular dysplasia/cardiomyopathy 4 12.3
7 arrhythmogenic right ventricular dysplasia/cardiomyopathy 5 12.3
8 arrhythmogenic right ventricular dysplasia/cardiomyopathy 6 12.3
9 arrhythmogenic right ventricular dysplasia/cardiomyopathy 7 12.3
10 arrhythmogenic right ventricular dysplasia/cardiomyopathy 8 12.3
11 naxos disease 12.0
12 arrhythmogenic right ventricular dysplasia, familial, 13 11.8
13 myopathy, myofibrillar, 1 11.4
14 arrhythmogenic right ventricular dysplasia 5 11.4
15 arrhythmogenic right ventricular dysplasia 8 11.4
16 arrhythmogenic right ventricular dysplasia 9 11.4
17 arrhythmogenic right ventricular dysplasia 12 11.4
18 arrhythmogenic right ventricular dysplasia 11 11.4
19 arrhythmogenic right ventricular dysplasia 10 11.4
20 arrhythmogenic right ventricular dysplasia 1 11.3
21 familial isolated arrhythmogenic right ventricular dysplasia 11.2
22 arrhythmogenic right ventricular dysplasia/cardiomyopathy13 11.2
23 arrhythmogenic right ventricular dysplasia 3 11.2
24 arrhythmogenic right ventricular dysplasia 4 11.2
25 arrhythmogenic right ventricular dysplasia 6 11.2
26 cardiomyopathy 11.1
27 facio digito genital syndrome recessive form 10.3 DES DMD
28 codas syndrome 10.3 DSC2 DSP JUP
29 choanal atresia and lymphedema 10.3 DSC2 DSP JUP
30 branchiooculofacial syndrome 10.3 DSP JUP
31 right bundle branch block 10.3
32 cardiac sarcoidosis 10.3
33 lipoma 10.3 DSC2 DSP JUP
34 skin fragility-woolly hair syndrome 10.3 DSP JUP
35 sed, maroteaux type 10.3 DSC2 DSP JUP
36 klippel-feil syndrome 2 10.3 DSC2 DSP JUP PKP2
37 emery-dreifuss muscular dystrophy 7, ad 10.3 CDH2 CTNNB1 TMEM43
38 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.3 DES DMD
39 folinic acid-responsive seizures 10.3 DSC2 DSG2 DSP
40 pol iii-related leukodystrophies 10.3 DSG2 DSP JUP
41 spastic paraplegia 47, autosomal recessive 10.3 DSG2 RYR2
42 gupta patton syndrome 10.3 DSP JUP
43 leukodystrophy, hypomyelinating, 2 10.3 JUP RYR1 RYR2
44 sudden infant death syndrome 10.2 CDH2 CTNNB1 DSP GJA1
45 mosaic trisomy 1 10.2 ACTN2 DSG2 DSP LMNA
46 retinitis pigmentosa 18 10.2 ACTN2 DSG2 DSP LMNA
47 brugada syndrome 10.2
48 epilepsy, generalized, with febrile seizures plus, type 1 10.2 DES RYR1 RYR2
49 parametrium malignant neoplasm 10.2 DES DMD LMNA TMEM43
50 nonsyndromic hearing loss and deafness, mitochondrial 10.2 DES DMD TTN

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 10.33 CDH2 CTNNA3 CTNNB1 DES DMD DSC2
2 cellular MP:0005384 10.25 CDH2 CTNNB1 DES DMD DSG2 DSP
3 mortality/aging MP:0010768 10.13 RYR2 TGFB3 TTN CDH2 CTNNA3 CTNNB1
4 homeostasis/metabolism MP:0005376 10.1 CDH2 CTNNB1 DES DMD GJA1 JUP
5 embryo MP:0005380 9.97 RYR2 TGFB3 TTN CDH2 CTNNB1 DSP
6 muscle MP:0005369 9.97 RYR2 TTN CDH2 CTNNA3 CTNNB1 DES
7 craniofacial MP:0005382 9.95 CTNNB1 DSP GJA1 LMNA RYR1 TGFB3
8 normal MP:0002873 9.56 TGFB3 TTN CTNNB1 DMD GJA1 JUP
9 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
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
2
Eplerenone Approved Phase 3 107724-20-9 150310 443872
3 diuretics Phase 3
4 Natriuretic Agents Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Diuretics, Potassium Sparing Phase 3,Phase 1,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
9 Mineralocorticoid Receptor Antagonists Phase 3
10 Mineralocorticoids Phase 3
11 Sodium Channel Blockers Phase 1, Phase 2
12 Anti-Arrhythmia Agents Phase 1, Phase 2
13
Isoproterenol Approved 7683-59-2 3779
14 Adrenergic Agents
15 Adrenergic Agonists
16 Adrenergic beta-Agonists
17 Neurotransmitter Agents
18 Peripheral Nervous System Agents
19 Anti-Asthmatic Agents
20 Protective Agents
21 Respiratory System Agents
22 Autonomic Agents
23 Bronchodilator Agents

Interventional clinical trials:

(show all 21)
id Name Status NCT ID Phase
1 PHOspholamban RElated CArdiomyopathy STudy - Intervention Recruiting NCT01857856 Phase 3
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
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 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
9 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
10 The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Completed NCT02291393
11 Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
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, Brain, Pancreas

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 264)
id Title Authors Year
1
Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy. ( 28253841 )
2017
2
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. ( 28523642 )
2017
3
Characterization of the arrhythmogenic substrate in patients with arrhythmogenic right ventricular cardiomyopathy undergoing ventricular tachycardia ablation. ( 28371837 )
2017
4
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. ( 28431055 )
2017
5
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
6
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. ( 28431057 )
2017
7
Surgical Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy with Absent Pulmonary Valve. ( 28524842 )
2017
8
Should epsilon wave be considered as a major diagnostic criterion in arrhythmogenic right ventricular cardiomyopathy? ( 28326523 )
2017
9
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
10
Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28256248 )
2017
11
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28402769 )
2017
12
Systematic review: Impact of the new task force criteria in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. ( 28342631 )
2017
13
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. ( 28067540 )
2017
14
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. ( 28527814 )
2017
15
Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28280076 )
2017
16
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28406281 )
2017
17
Arrhythmogenic right ventricular cardiomyopathy with biventricular involvement and heart failure in a 9-year old girl. ( 28373789 )
2017
18
Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28052233 )
2017
19
Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: What are the risk factors? ( 28465114 )
2017
20
Electrical Storm in ICD Recipients with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28261825 )
2017
21
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27855808 )
2016
22
Embodying a New Meaning of Being At Risk: Living With an Implantable Cardioverter Defibrillator for Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28462346 )
2016
23
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27150862 )
2016
24
Arrhythmogenic Right Ventricular Cardiomyopathy: Better Tools for Detecting Early Disease and Progression. ( 27855809 )
2016
25
Electrical storm might be the initial presentation of arrhythmogenic right ventricular cardiomyopathy. ( 27067562 )
2016
26
Evolution of the electrocardiogram in a patient with arrhythmogenic right ventricular cardiomyopathy. ( 27712909 )
2016
27
Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient. ( 27055156 )
2016
28
The ventricular ectopic QRS interval (VEQSI): Diagnosis of arrhythmogenic right ventricular cardiomyopathy in patients with incomplete disease expression. ( 27016477 )
2016
29
New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article. ( 27100441 )
2016
30
Cardiac Sarcoidosis and Arrhythmogenic Right Ventricular Cardiomyopathy -Potential Differential Diagnoses for Arrhythmogenic Ventricular Cardiomyopathy. ( 27150851 )
2016
31
Early repolarization in patients with arrhythmogenic right ventricular cardiomyopathy is not frequent phenomenon. ( 27526374 )
2016
32
MY APPROCH to the Diagnosis and Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D)(a88). ( 27553816 )
2016
33
Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy. ( 26966288 )
2016
34
Letter by Barison et al Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". ( 26976920 )
2016
35
Catheter ablation reduces ventricular tachycardia burden in patients with arrhythmogenic right ventricular cardiomyopathy: insights from a north-western French multicentre registry. ( 28017936 )
2016
36
Structural and molecular pathology ofA theA atrium in boxer arrhythmogenic right ventricular cardiomyopathy. ( 27769725 )
2016
37
Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy. ( 27939893 )
2016
38
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. ( 27931611 )
2016
39
Left Ventricular Function in Children and Adolescents With Arrhythmogenic Right Ventricular Cardiomyopathy. ( 28040191 )
2016
40
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
41
Management of arrhythmogenic right ventricular cardiomyopathy. ( 27186923 )
2016
42
Arrhythmogenic Right Ventricular Cardiomyopathy: Risk Stratification and Indications for Defibrillator Therapy. ( 27147509 )
2016
43
Survival after Heart Transplantation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27154489 )
2016
44
Clinical Profile of Arrhythmogenic Right Ventricular Cardiomyopathy With Left Ventricular Involvement. ( 27402491 )
2016
45
Arrhythmogenic right ventricular cardiomyopathy: ECG progression over time and correlation with long-term follow-up. ( 27119598 )
2016
46
Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing. ( 26990921 )
2016
47
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. ( 26676851 )
2016
48
Response to Letter Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". ( 26976921 )
2016
49
Usefulness of Combined Functional Assessment by Cardiac Magnetic Resonance and Tissue Characterization Versus Task Force Criteria for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27825581 )
2016
50
Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy. ( 27531918 )
2016

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6 (show all 49)
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 GRCh37 Chromosome 6, 7577219: 7577219
40 DSP NM_004415.3(DSP): c.1292dupA (p.Tyr431Terfs) duplication Pathogenic/Likely pathogenic rs786204293 GRCh37 Chromosome 6, 7568695: 7568695
41 PKP2 NM_004572.3(PKP2): c.2329_2334delATCATTinsG (p.Ile777Alafs) indel Pathogenic rs786204394 GRCh37 Chromosome 12, 32949198: 32949203
42 PKP2 NM_004572.3(PKP2): c.1170+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204392 GRCh37 Chromosome 12, 33021860: 33021860
43 PKP2 NM_004572.3(PKP2): c.337-2A> T single nucleotide variant Pathogenic/Likely pathogenic rs786204389 GRCh38 Chromosome 12, 32878545: 32878545
44 PKP2 NM_004572.3(PKP2): c.253_256delGAGT (p.Glu85Metfs) deletion Pathogenic rs786204388 GRCh38 Chromosome 12, 32879000: 32879003
45 PKP2 NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs) deletion Pathogenic/Likely pathogenic rs794729137 GRCh38 Chromosome 12, 32841073: 32841073
46 PKP2 NM_004572.3(PKP2): c.1162C> T (p.Arg388Trp) single nucleotide variant Pathogenic rs766209297 GRCh37 Chromosome 12, 33021869: 33021869
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
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 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 ACTN2 CDH2 CTNNB1 DSC2 DSG2 DSP
2
Show member pathways
12.81 ACTN2 CDH2 CTNNA3 CTNNB1 JUP TGFB3
3
Show member pathways
12.73 ACTN2 DES DMD RYR1 RYR2 TTN
4 12.39 DES GJA1 JUP LMNA
5
Show member pathways
12.36 DSC2 DSG2 DSP JUP PKP2
6
Show member pathways
12.35 DMD LMNA RYR1 RYR2
7
Show member pathways
12.22 CTNNA3 CTNNB1 JUP TGFB3
8
Show member pathways
12.04 DES DMD LMNA RYR2 TGFB3 TTN
9 11.99 CDH2 CTNNB1 RYR1 RYR2
10
Show member pathways
11.87 ACTN2 CDH2 CTNNA3 CTNNB1 DES DMD
11
Show member pathways
11.84 CTNNB1 DSG2 DSP LMNA
12
Show member pathways
11.81 DES DSP PKP2
13 11.81 CDH2 CTNNB1 DSP GJA1 JUP
14 11.74 CDH2 DES GJA1 TGFB3
15 11.73 CTNNB1 GJA1 JUP
16 11.59 ACTN2 DES DMD TTN
17 11.4 DSP GJA1 JUP LMNA RYR2
18 11.31 CDH2 CTNNA3 CTNNB1 JUP
19 11.19 CDH2 CTNNB1 GJA1
20 11.16 ACTN2 CDH2 CTNNA3 CTNNB1 JUP
21 11 ACTN2 CDH2 CTNNA3 CTNNB1 DSP GJA1
22 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 19)
id Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.95 ACTN2 CDH2 CTNNB1 GJA1 JUP
2 intermediate filament GO:0005882 9.89 DES DSP JUP LMNA PKP2
3 cell-cell junction GO:0005911 9.87 CDH2 CTNNB1 DES DSG2 DSP JUP
4 cell-cell adherens junction GO:0005913 9.83 CDH2 CTNNB1 DSC2 JUP
5 adherens junction GO:0005912 9.8 CDH2 CTNNA3 CTNNB1 JUP PKP2
6 lateral plasma membrane GO:0016328 9.78 CTNNB1 DMD DSG2 JUP
7 cornified envelope GO:0001533 9.77 DSC2 DSG2 DSP JUP PKP2
8 sarcolemma GO:0042383 9.76 CDH2 DES DMD
9 Z disc GO:0030018 9.7 ACTN2 CTNNB1 DES DMD JUP RYR2
10 desmosome GO:0030057 9.65 DSC2 DSG2 DSP JUP PKP2
11 catenin complex GO:0016342 9.63 CDH2 CTNNB1 JUP
12 intercalated disc GO:0014704 9.61 CDH2 CTNNB1 DES DSC2 DSG2 DSP
13 Set1C/COMPASS complex GO:0048188 9.58 DYDC1 DYDC2
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.56 RYR1 RYR2
15 fascia adherens GO:0005916 9.17 CDH2 CTNNA3 CTNNB1 DES DSP GJA1
16 plasma membrane GO:0005886 10.38 ACTN2 CDH2 CTNNB1 DES DMD DSC2
17 extracellular exosome GO:0070062 10.29 ACTN2 CDH2 CTNNB1 DES DSC2 DSG2
18 cytoskeleton GO:0005856 10.11 ACTN2 CTNNA3 CTNNB1 DES DMD DSP
19 cell junction GO:0030054 10.09 CDH2 CTNNB1 DMD DSC2 DSG2 DSP

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.92 DSC2 DSG2 DSP JUP PKP2
2 cell adhesion GO:0007155 9.86 ACTN2 CDH2 CTNNA3 CTNNB1 DSC2 DSG2
3 cornification GO:0070268 9.85 DSC2 DSG2 DSP JUP PKP2
4 skin development GO:0043588 9.8 CTNNB1 DSP JUP RYR1
5 establishment of protein localization to plasma membrane GO:0090002 9.78 ACTN2 CDH2 JUP PKP2
6 single organismal cell-cell adhesion GO:0016337 9.77 CTNNA3 CTNNB1 DSP JUP PKP2
7 cardiac muscle contraction GO:0060048 9.73 DMD RYR2 TTN
8 adherens junction organization GO:0034332 9.73 CDH2 CTNNB1 DSP JUP
9 muscle contraction GO:0006936 9.72 ACTN2 DES GJA1 RYR1 TTN
10 muscle filament sliding GO:0030049 9.71 ACTN2 DES DMD TTN
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.69 GJA1 PKP2 RYR2
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 DMD RYR2
13 intermediate filament organization GO:0045109 9.65 DES DSP
14 response to muscle stretch GO:0035994 9.64 DMD RYR2
15 ventricular cardiac muscle cell action potential GO:0086005 9.64 PKP2 RYR2
16 response to caffeine GO:0031000 9.63 RYR1 RYR2
17 regulation of bicellular tight junction assembly GO:2000810 9.63 GJA1 PKP2
18 regulation of heart rate by cardiac conduction GO:0086091 9.63 CTNNA3 DSC2 DSG2 DSP JUP PKP2
19 cellular response to caffeine GO:0071313 9.62 RYR1 RYR2
20 cardiac muscle hypertrophy GO:0003300 9.62 RYR2 TTN
21 adherens junction assembly GO:0034333 9.61 CTNNB1 JUP
22 gap junction assembly GO:0016264 9.6 GJA1 PKP2
23 chromatin silencing at telomere GO:0006348 9.59 DYDC1 DYDC2
24 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.58 RYR1 RYR2
25 desmosome organization GO:0002934 9.58 DSG2 DSP
26 cellular response to indole-3-methanol GO:0071681 9.57 CTNNB1 JUP
27 desmosome assembly GO:0002159 9.55 JUP PKP2
28 cardiac muscle cell action potential GO:0086001 9.54 DMD PKP2
29 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.5 CTNNA3 DSC2 DSG2 DSP JUP PKP2
30 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2
31 negative regulation of cell proliferation GO:0008285 10 CTNNB1 GJA1 LMNA PKP2 TGFB3

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.89 CDH2 CTNNB1 JUP RYR2 TTN
2 cadherin binding GO:0045296 9.85 CTNNA3 CTNNB1 JUP PKP2
3 enzyme binding GO:0019899 9.85 CDH2 CTNNB1 RYR1 RYR2 TTN
4 structural constituent of cytoskeleton GO:0005200 9.74 DES DMD DSP
5 protein phosphatase binding GO:0019903 9.7 CDH2 CTNNB1 JUP
6 calcium ion binding GO:0005509 9.7 ACTN2 CDH2 DSC2 DSG2 RYR1 RYR2
7 cell adhesion molecule binding GO:0050839 9.69 DSG2 DSP JUP
8 protein self-association GO:0043621 9.65 RYR2 TMEM43 TTN
9 structural constituent of muscle GO:0008307 9.61 ACTN2 DMD TTN
10 histone methyltransferase activity (H3-K4 specific) GO:0042800 9.56 DYDC1 DYDC2
11 ion channel binding GO:0044325 9.56 ACTN2 CTNNB1 PKP2 RYR2
12 calcium-release channel activity GO:0015278 9.54 RYR1 RYR2
13 ryanodine-sensitive calcium-release channel activity GO:0005219 9.4 RYR1 RYR2
14 calcium-induced calcium release activity GO:0048763 9.37 RYR1 RYR2
15 alpha-catenin binding GO:0045294 9.26 CDH2 CTNNB1 JUP PKP2
16 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.1 CTNNA3 DSC2 DSG2 DSP JUP PKP2
17 protein binding GO:0005515 10.28 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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