CPVT1
MCID: VNT035
MIFTS: 65

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy (CPVT1)

Categories: Cancer diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 57 72
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 29 6 70
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 57 13 70
Catecholaminergic Polymorphic Ventricular Tachycardia 1 12 15
Ventricular Tachycardia, Stress-Induced Polymorphic 57 6
Stress-Induced Polymorphic Ventricular Tachycardia 72 70
Bidirectional Tachycardia 72 70
Tachycardia, Ventricular 44 39
Ventricular Tachycardia 17 32
Cpvt1 57 72
Vtsip 57 72
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 39
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 57
Ventricular Tachycardia Catecholaminergic Polymorphic 1 72
Double Tachycardia Induced by Catecholamines 72
Malignant Paroxysmal Ventricular Tachycardia 72
Paroxysmal Familial Ventricular Fibrillation 70
Multifocal Ventricular Premature Beats 72
Multifocal Premature Ventricular Beats 70
Paroxysmal Ventricular Fibrillation 72
Syncopal Paroxysmal Tachycardia 72
Syncopal Tachyarythmia 72
Multifocal Pvcs 70
Cvpt1 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060675
OMIM® 57 604772
OMIM Phenotypic Series 57 PS604772
MeSH 44 D017180
ICD10 32 I47.2
MedGen 41 C1631597
UMLS 70 C0264903 C0340493 C1631597 more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

OMIM® : 57 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by Bhuiyan et al., 2007). (604772) (Updated 20-May-2021)

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy, also known as catecholaminergic polymorphic ventricular tachycardia type 1, is related to idiopathic ventricular fibrillation, non brugada type and naxos disease, and has symptoms including seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Circadian entrainment and Cardiac conduction. The drugs Grape and Carvedilol have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are atrial fibrillation and atrial standstill

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the RYR2 gene on chromosome 1q43.

UniProtKB/Swiss-Prot : 72 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant.

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 607)
# Related Disease Score Top Affiliating Genes
1 idiopathic ventricular fibrillation, non brugada type 32.3 SCN5A RYR2
2 naxos disease 32.1 RYR2 PKP2 DSP
3 ventricular tachycardia, catecholaminergic polymorphic, 3 32.0 RYR2 KCNJ2 CASQ2
4 arrhythmogenic right ventricular dysplasia, familial, 1 31.9 RYR2 PKP2 DSP
5 atrial standstill 1 31.7 SCN5A RYR2 PKP2 MYH7 DSP
6 ventricular tachycardia, catecholaminergic polymorphic, 4 31.7 KCNQ1 CALM1
7 cardiac arrhythmia, ankyrin-b-related 31.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
8 tetralogy of fallot 31.0 SCN5A RYR2 PTPN11 KCNH2
9 congestive heart failure 30.9 SCN5A RYR2 MYH7 KCNQ1
10 wolff-parkinson-white syndrome 30.8 SCN5A MYH7 KCNQ1 CASQ2
11 timothy syndrome 30.7 TRDN SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
12 brugada syndrome 1 30.5 SCN5A RYR2 KCNH2
13 lipoprotein quantitative trait locus 30.4 SCN5A RYR2 PKP2 MYH7 KCNQ1 KCNJ2
14 progressive familial heart block, type ia 30.3 SCN5A DSP ANK2
15 atrial heart septal defect 30.2 SCN5A PTPN11 MYH7
16 first-degree atrioventricular block 30.2 SCN5A MYH7 KCNJ2 KCNH2
17 familial long qt syndrome 30.2 SCN5A KCNQ1 KCNH2 DSP CALM1 ANK2
18 familial short qt syndrome 30.1 KCNQ1 KCNJ2 KCNH2
19 restrictive cardiomyopathy 30.1 PKP2 MYH7 DSP
20 sinoatrial node disease 30.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 ANK2
21 arrhythmogenic right ventricular dysplasia, familial, 4 30.1 RYR2 PKP2 DSP
22 atrial fibrillation 30.1 SCN5A RYR2 MYH7 KCNQ1 KCNJ2 KCNH2
23 cardiac conduction defect 30.0 SCN5A RYR2 MYH7 KCNQ1 DSP
24 third-degree atrioventricular block 30.0 SCN5A KCNJ2 KCNH2
25 arrhythmogenic right ventricular dysplasia, familial, 11 30.0 RYR2 PKP2 DSP
26 arrhythmogenic right ventricular dysplasia, familial, 9 30.0 RYR2 PKP2 DSP
27 left bundle branch hemiblock 30.0 SCN5A RYR2 PKP2 DSP
28 familial periodic paralysis 30.0 SCN5A RYR1 KCNJ2
29 cardiomyopathy, familial hypertrophic, 1 30.0 SCN5A RYR2 MYH7 KCNH2
30 right bundle branch block 30.0 SCN5A PKP2 KCNH2
31 ebstein anomaly 29.9 SCN5A MYH7 DTNA
32 cardiac arrhythmia 29.9 SCN5A RYR2 PKP2 KCNQ1 KCNH2 DTNA
33 familial woolly hair syndrome 29.9 RYR2 PKP2 DSP
34 ventricular fibrillation, paroxysmal familial, 1 29.9 SCN5A RYR2 KCNQ1 KCNH2 DSP
35 central core disease of muscle 29.8 RYR2 RYR1
36 syncope 29.8 SCN5A RYR2 KCNQ1 KCNH2
37 andersen cardiodysrhythmic periodic paralysis 29.8 TRDN SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
38 hypokalemic periodic paralysis, type 1 29.7 TRDN SCN5A RYR1 KCNJ2
39 atrioventricular block 29.5 SCN5A RYR2 MYH7 KCNQ1 KCNH2
40 short qt syndrome 29.4 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 CASQ2
41 neuromuscular disease 29.4 SCN5A RYR2 RYR1 MYH7 KCNH2
42 arrhythmogenic right ventricular dysplasia, familial, 2 29.4 TRDN RYR2 RYR1 PKP2 FKBP1B DSP
43 malignant hyperthermia 29.4 TRDN SCN5A RYR2 RYR1 MYH7 KCNH2
44 long qt syndrome 14 29.4 TRDN SCN5A KCNQ1 KCNJ2 KCNH2 CALM1
45 long qt syndrome 5 29.3 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
46 long qt syndrome 6 29.3 SCN5A KCNQ1 KCNJ2 KCNH2 ANK2
47 long qt syndrome 3 29.3 TRDN SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
48 sudden infant death syndrome 29.3 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2
49 catecholaminergic polymorphic ventricular tachycardia 29.2 TRDN SCN5A RYR2 RYR1 PKP2 MYH7
50 hypertrophic cardiomyopathy 29.1 SCN5A RYR2 PTPN11 PKP2 MYH7 KCNQ1

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 31 occasional (7.5%) HP:0005110
2 atrial standstill 31 occasional (7.5%) HP:0025478
3 abnormal left ventricular function 31 very rare (1%) HP:0005162
4 syncope 31 HP:0001279
5 ventricular tachycardia 31 HP:0004756
6 sudden death 31 HP:0001699
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures

Cardiovascular Heart:
syncope
sudden death
atrial fibrillation (in some patients)
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion
sinoatrial node dysfunction (in some patients)
more

Clinical features from OMIM®:

604772 (Updated 20-May-2021)

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:


seizures; syncope

GenomeRNAi Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.64 AKAP6
2 Decreased viability GR00221-A-2 9.64 AKAP6 CALM1
3 Decreased viability GR00221-A-3 9.64 AKAP6 CALM1
4 Decreased viability GR00221-A-4 9.64 AKAP6 CALM1
5 Decreased viability GR00249-S 9.64 DTNA PPP2R3A RYR1 RYR2 TRDN
6 Decreased viability GR00301-A 9.64 CALM1
7 Decreased viability GR00381-A-1 9.64 DTNA SIX5
8 Decreased viability GR00381-A-3 9.64 DTNA
9 Decreased viability GR00402-S-2 9.64 CALM1 DSP KCNJ2 KCNQ1 SCN5A

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 AKAP6 CASQ2 DSP DTNA FKBP1B KCNH2
2 growth/size/body region MP:0005378 9.97 AKAP6 CASQ2 DSP DTNA FKBP1B KCNH2
3 craniofacial MP:0005382 9.8 AKAP6 CASQ2 DSP KCNH2 KCNJ2 PTPN11
4 mortality/aging MP:0010768 9.77 AKAP6 CASQ2 DSP DTNA FKBP1B KCNH2
5 muscle MP:0005369 9.53 AKAP6 CASQ2 DSP DTNA FKBP1B KCNH2

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Grape Approved Phase 4
2
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
3
Remifentanil Approved Phase 4 132875-61-7 60815
4
Flecainide Approved, Withdrawn Phase 4 54143-55-4 3356
5
Verapamil Approved Phase 4 52-53-9 2520
6
Ajmaline Approved, Experimental Phase 4 4360-12-7 441080
7
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Propafenone Approved Phase 4 54063-53-5 4932
10
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
11
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
12
Procainamide Approved Phase 4 51-06-9 4913
13
Apixaban Approved Phase 4 503612-47-3 10182969
14
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
15
Nifekalant Investigational Phase 4 130636-43-0
16 Antioxidants Phase 4
17 Adrenergic alpha-1 Receptor Antagonists Phase 4
18 Hormones Phase 4
19 Narcotics Phase 4
20 Analgesics, Opioid Phase 4
21 calcium channel blockers Phase 4
22 Calcium, Dietary Phase 4
23 Anesthetics Phase 4
24 Cytochrome P-450 CYP3A Inhibitors Phase 4
25 Potassium Channel Blockers Phase 4
26 Cytochrome P-450 Enzyme Inhibitors Phase 4
27 Anesthetics, Local Phase 4
28 Mineralocorticoid Receptor Antagonists Phase 4
29 Mineralocorticoids Phase 4
30 Platelet Aggregation Inhibitors Phase 4
31 Anticoagulants Phase 4
32 Antirheumatic Agents Phase 4
33 Fibrinolytic Agents Phase 4
34 Serine Proteinase Inhibitors Phase 4
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4
36 Antithrombins Phase 4
37 Anti-Inflammatory Agents Phase 4
38 Cyclooxygenase Inhibitors Phase 4
39 Antithrombin III Phase 4
40 Factor Xa Inhibitors Phase 4
41 Analgesics, Non-Narcotic Phase 4
42 HIV Protease Inhibitors Phase 4
43 Antipyretics Phase 4
44
protease inhibitors Phase 4
45
Calcium Nutraceutical Phase 4 7440-70-2 271
46
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
47
Ethanol Approved Phase 2, Phase 3 64-17-5 702
48
Quinidine Approved, Investigational Phase 3 56-54-2 441074
49
Imipramine Approved Phase 3 50-49-7 3696
50
Dantrolene Approved, Investigational Phase 2, Phase 3 7261-97-4 2952 6914273

Interventional clinical trials:

(show top 50) (show all 279)
# Name Status NCT ID Phase Drugs
1 Catheter Ablation Versus Antiarrhythmic Drugs for Outflow Tract Ventricular ARrhythmias Unknown status NCT01780311 Phase 4 antiarrhythmic drugs (Flecainide or Propafenone or Sotalol)
2 Evaluation of the Efficacy and Safety of Nifekalant Hydrochloride (NIF) Injection in the Treatment of Ventricular Tachycardia and Ventricular Fibrillation. A Multicenter, Randomized, Controlled, Open-label, Clinical Trial. Unknown status NCT03855826 Phase 4 Nifekalant hydrochloride;Amiodarone
3 Effects of Carvedilol on Suppressing the Premature Ventricular Complex/Ventricular Tachycardia From Outflow Tract Unknown status NCT03587558 Phase 4 Carvedilol;Flecainide
4 Safety of Amiodarone and Ranolazine Together in Patients With Stable Angina Unknown status NCT01558830 Phase 4 ranolazine;placebo
5 Medical ANtiarrhythmic Treatment or Radiofrequency Ablation in Ischemic Ventricular Tachyarrhythmias. A Prospective, Randomized Multicentre Study. Unknown status NCT02303639 Phase 4 Antiarrhythmic drug therapy
6 Stereotaxis Study To Obliterate Persistent Ventricular Tachycardia: Data Collection of Clinical Scar-related VT Cases Completed NCT00851279 Phase 4
7 Ultra-high Density Mapping With Multielectrode Catheter vs Conventional Point by Point Mapping for Ventricular Tachycardia Substrate Ablation Completed NCT02083016 Phase 4
8 ADVANCE CRT - D: ATP Delivery for Painless ICD Therapy Completed NCT00147290 Phase 4
9 ADVANCE-D: ATP Delivery for Painless ICD Therapy Completed NCT00147277 Phase 4
10 Remifentanil IV PCA for Ablation of Idiopathic Ventricular Tachycardia Completed NCT01901575 Phase 4 Remifentanil
11 Ventricular Tachycardia Ablation or Escalated aNtiarrhythmic Drugs in ISchemic Heart Disease Completed NCT00905853 Phase 4 Escalated Antiarrhythmic Therapy
12 Reduction And Prevention of Tachyarrhythmias and Shocks Using Reduced Ventricular Pacing With Atrial Algorithms (The RAPTURE Study) Completed NCT00787800 Phase 4
13 Fast VT Episodes Are Terminated by ATP One Shot Completed NCT00617578 Phase 4
14 NaviStar ThermoCool Catheter for Endocardial RF Ablation in Patients With Ventricular Tachycardia Completed NCT00412607 Phase 4
15 Optimal Pharmacological Therapy In Implantable Defibrillator Patients (OPTIC) Completed NCT00257959 Phase 4 amiodarone beta blocker sotalol
16 ADVANCE III: Avoid DeliVering TherApies for Non-sustained Arrhythmias in ICD PatiEnts III Completed NCT00617175 Phase 4
17 Substrate Modification Study in Patients Getting an ICD Completed NCT00170287 Phase 4
18 Oral Verapamil in Acute Paroxysmal Supra Ventricular Tachycardia(PSVT) Recurrence Control Completed NCT01655316 Phase 4 Verapamil
19 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4 flecainide;ajmaline;procainamide
20 Survival of Patients With Primary Prophylactic ICD Indication, Provided With Intensified Care After 1st ICD Therapy Completed NCT00619593 Phase 4
21 IN-TIME: Influence of Home Monitoring on the Clinical Status of Heart Failure Patients Completed NCT00538356 Phase 4
22 Remote Follow-up for ICD-Therapy in Patients Meeting MADIT II Criteria (REFORM) Completed NCT00401466 Phase 4
23 Ventricular Tachycardia Antiarrhythmics or AblatioN In Structural Heart Disease 2 Recruiting NCT02830360 Phase 4 Antiarrythmic Drug Therapy
24 PROSPECTIVE ANALYSIS BETWEEN AMIODARONE Versus LIDOCAINE IN PATIENTS WITH STABLE VENTRICULAR TACHYCARDIA IN THE EMERGENCY ROOM Recruiting NCT03299517 Phase 4 Antiarrythmic Drugs;Antiarrhythmic drugs
25 Arrhythmia Prevention in High Risk Cardiovascular Patients Using Targeted Potassium Levels Recruiting NCT03833089 Phase 4
26 Multicenter Clinical Study of Therapeutic Effect of Sotalol on Children With Arrhythmia (Paroxysmal Supraventricular Tachycardia, Paroxysmal Atrial Tachycardia, Ventricular Tachycardia, Idiopathic Ventricular Tachycardia, Premature Ventricular Contraction ) in Children Aged From 0d to 14 Yrs Not yet recruiting NCT03895411 Phase 4 sotalol;Propafenone;betaloc
27 CanROC Epinephrine Dose: Optimal Versus Standard Evaluation Trial (CanROC EpiDOSE Trial) Not yet recruiting NCT03826524 Phase 4 Epinephrine
28 Antiarrhythmic Therapy Versus Catheter Ablation as First Line Treatment for AICD Shock Prevention: A Randomized Vanguard Pilot Trial Terminated NCT02114528 Phase 4 Antiarrhythmic Drug Therapy
29 Early Ablation Therapy for the Treatment of Ischemic Ventricular Tachycardia in Patients With Implantable Cardioverter Defibrillators Terminated NCT01557842 Phase 4 Drug Treatment
30 Safety and Efficacy of Periprocedural Apixaban Use for Reduction of the Risk of Cerebrovascular Events in Patients Undergoing Ventricular Tachycardia Radiofrequency Catheter Ablation Terminated NCT02666742 Phase 4 Apixaban;Aspirin
31 Comparison of Intravenous Amiodarone Versus Intravenous Procainamide for the Acute Treatment of Regular and Haemodynamically Well Tolerated Wide QRS Tachycardia (Probably of Ventricular Origen). The PROCAMIO Multicenter Study Terminated NCT00383799 Phase 4 iv Amiodarone;iv Procainamide
32 Comparison of the Effect of Ablation of the Clinically Presenting Ventricular Tachycardia (VT) Only Versus the Addition of Substrate Ablation Based on Scar Mapping; on the Long Term Success Rate of VT Ablation Completed NCT01045668 Phase 3
33 Exercise Training to Reduce Ventricular Arrhythmia in Heart Failure Patients With ICD - The Ethic Study Completed NCT01038960 Phase 3
34 Vein of Marshall Ethanol Infusion for Persistent Atrial Fibrillation Completed NCT01898221 Phase 2, Phase 3 Ethanol
35 Amiodarone, Lidocaine or Neither for Out-Of-Hospital Cardiac Arrest Due to Ventricular Fibrillation (VF) or Ventricular Tachycardia (VT) Completed NCT01401647 Phase 3 amiodarone;Lidocaine
36 VENTAK CHF/CONTAK CD Biventricular Pacing Study Completed NCT00387803 Phase 2, Phase 3
37 Electrophysiologic Study Versus Electrocardiographic Monitoring (ESVEM) Completed NCT00000518 Phase 3 imipramine;mexiletine;procainamide;quinidine;sotalol
38 Antiarrhythmics Versus Implantable Defibrillators (AVID) Completed NCT00000531 Phase 3 amiodarone amiodarone;sotalol
39 Multicenter Unsustained Tachycardia Trial (MUSTT) Completed NCT00000480 Phase 3 anti-arrhythmia agents
40 Fatty Acid Antiarrhythmia Trial (FAAT) Completed NCT00004559 Phase 3
41 Continuation of Antiarrhythmics Following caThEteR Ablation for Ventricular Tachycardia (AFTER-VT) Trial: A Pilot Randomized Clinical Trial Recruiting NCT04208997 Phase 3 Antiarrhythmic drug
42 VOYAGE- Ventricular Tachycardia Ablation and Myocardial Scar Characterization With Magnetic Resonance Recruiting NCT04694079 Phase 3
43 A Randomized Controlled Trial of RyR2 Inhibition With Dantrolene and Susceptibility to Ventricular Arrhythmias in Patients With Structural Heart Disease. Recruiting NCT04134845 Phase 2, Phase 3 Dantrolene/Ryanodex;Placebo
44 A Randomised Controlled Trial of the Standard Versus a Simplified Adenosine Administration Method in the Treatment of Adult Patients With Supra- Ventricular Tachycardia (SVT) Recruiting NCT04392362 Phase 3 Adenosine
45 Preventive VT Substrate Ablation in Patients With Chronic Post-MI Scar Showing Arrhythmogenic Characteristics Not yet recruiting NCT04675073 Phase 3
46 Prophylactic Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias (PREVENT VT) Not yet recruiting NCT01013714 Phase 3 Routine Care
47 Catheter Ablation Versus Amiodarone for Shock Prophylaxis in Defibrillator Patients With Ventricular Tachycardia: A Multi-center Randomized Trial Terminated NCT01097330 Phase 3 Amiodarone
48 Ablation Versus Medical Therapy in Patients With Coronary Artery Disease and Sustained Ventricular Tachycardia Randomized Trial (VeTAMed) Withdrawn NCT01798277 Phase 3 Medical therapy (sotalol or amiodarone)
49 Phase I/II Study of 4-D Navigated Non-invasive Radiosurgical Ablation of Ventricular Tachycardia Unknown status NCT03601832 Phase 1, Phase 2
50 Remote Intracardiac Catheter Target Acquisition Using the Magnetecs Catheter Guidance Control and Imaging (CGCI) System Unknown status NCT01222156 Phase 1, Phase 2

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Cochrane evidence based reviews: tachycardia, ventricular

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 29 CASQ2 RYR2 TRDN

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

40
Heart, Brain, Liver, Lung, Thyroid, Pituitary, Skeletal Muscle

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

(show top 50) (show all 171)
# Title Authors PMID Year
1
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. 6 61 57
19926015 2009
2
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. 57 6
17875969 2007
3
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 57 6
12093772 2002
4
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 6 57
11157710 2001
5
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 57 6
11208676 2001
6
Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations. 6 61
26153920 2015
7
Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. 6 54
17984046 2007
8
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. 6 54
16239587 2005
9
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. 6 61
16188589 2005
10
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. 6 61
15544015 2004
11
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 61 6
15466642 2004
12
Functional heterogeneity of ryanodine receptor mutations associated with sudden cardiac death. 54 6
15364613 2004
13
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. 6 54
11704930 2001
14
Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives. 6
32899693 2020
15
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships. 6
32152366 2020
16
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. 57
31913406 2020
17
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. 6
30847666 2019
18
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. 6
31112425 2019
19
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. 6
30729048 2019
20
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 6
30197081 2018
21
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. 6
29453246 2018
22
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? 6
29032884 2018
23
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. 6
28237968 2017
24
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). 6
28600387 2017
25
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 6
28449774 2017
26
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. 6
28422759 2017
27
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies. 6
28750076 2017
28
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants. 6
27538377 2017
29
Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. 6
27482086 2016
30
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. 6
27157848 2016
31
Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings. 6
26768964 2016
32
Implantable Loop Recorder Monitoring for Refining Management of Children With Inherited Arrhythmia Syndromes. 6
27231019 2016
33
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. 6
26200674 2015
34
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. 6
26018045 2015
35
Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. 6
25922419 2015
36
Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia. 6
25440180 2015
37
Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes. 6
25445213 2015
38
Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. 6
26132555 2015
39
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene. 6
25835811 2015
40
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. 6
26114861 2015
41
Are RYR2 exon-3 deletions truly causative for non-compaction? 6
24728420 2014
42
Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model. 6
25087098 2014
43
Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction. 6
24394973 2014
44
A knock-in mouse model of N-terminal R420W mutation of cardiac ryanodine receptor exhibits arrhythmogenesis with abnormal calcium dynamics in cardiomyocytes. 6
25193700 2014
45
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 6
24563457 2014
46
Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor. 6
24743769 2014
47
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. 6
24136861 2014
48
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. 6
23978697 2013
49
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. 6
24025405 2013
50
The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. 6
23871484 2013

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

6 (show top 50) (show all 2593)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASQ2 NM_001232.3(CASQ2):c.919G>C (p.Asp307His) SNV Pathogenic 17610 rs121434549 GRCh37: 1:116247833-116247833
GRCh38: 1:115705212-115705212
2 CASQ2 NM_001232.3(CASQ2):c.500T>A (p.Leu167His) SNV Pathogenic 17612 rs121434550 GRCh37: 1:116280877-116280877
GRCh38: 1:115738256-115738256
3 RYR2 NM_001035.3(RYR2):c.169-198_273+820del Deletion Pathogenic 29879 GRCh37: 1:237493979-237495101
GRCh38: 1:237330679-237331801
4 CASQ2 NM_001232.3(CASQ2):c.62del (p.Glu21fs) Deletion Pathogenic 41042 rs397507555 GRCh37: 1:116311101-116311101
GRCh38: 1:115768480-115768480
5 RYR2 NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) SNV Pathogenic 12960 rs121918603 GRCh37: 1:237802368-237802368
GRCh38: 1:237639068-237639068
6 RYR2 NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) SNV Pathogenic 263679 rs886038888 GRCh37: 1:237993885-237993885
GRCh38: 1:237830585-237830585
7 CASQ2 NM_001232.3(CASQ2):c.339_354del (p.Ser113fs) Deletion Pathogenic 17611 rs786205106 GRCh37: 1:116283415-116283430
GRCh38: 1:115740794-115740809
8 RYR2 NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) SNV Pathogenic 449306 rs1553343100 GRCh37: 1:237995907-237995907
GRCh38: 1:237832607-237832607
9 RYR2 NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) SNV Pathogenic 12955 rs121918598 GRCh37: 1:237811823-237811823
GRCh38: 1:237648523-237648523
10 RYR2 NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) SNV Pathogenic 12956 rs121918599 GRCh37: 1:237947324-237947324
GRCh38: 1:237784024-237784024
11 RYR2 NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) SNV Pathogenic 12963 rs121918606 GRCh37: 1:237982481-237982481
GRCh38: 1:237819181-237819181
12 RYR2 NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) SNV Pathogenic 12954 rs121918597 GRCh37: 1:237798237-237798237
GRCh38: 1:237634937-237634937
13 RYR2 NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) SNV Pathogenic 12957 rs121918600 GRCh37: 1:237954741-237954741
GRCh38: 1:237791441-237791441
14 RYR2 NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) SNV Pathogenic 12962 rs121918605 GRCh37: 1:237947614-237947614
GRCh38: 1:237784314-237784314
15 CASQ2 NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) SNV Pathogenic 41043 rs397507556 GRCh37: 1:116311066-116311066
GRCh38: 1:115768445-115768445
16 RYR2 NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) SNV Pathogenic 12959 rs121918602 GRCh37: 1:237617696-237617696
GRCh38: 1:237454396-237454396
17 CASQ2 NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) SNV Pathogenic 1033371 GRCh37: 1:116269635-116269635
GRCh38: 1:115727014-115727014
18 CASQ2 NM_001232.4(CASQ2):c.737+2T>A SNV Pathogenic 1033372 GRCh37: 1:116269611-116269611
GRCh38: 1:115726990-115726990
19 RYR2 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) SNV Pathogenic 201194 rs794728708 GRCh37: 1:237540686-237540686
GRCh38: 1:237377386-237377386
20 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
21 RYR2 NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) SNV Pathogenic 201387 rs794728746 GRCh37: 1:237801780-237801780
GRCh38: 1:237638480-237638480
22 RYR2 NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) SNV Pathogenic 201315 rs794728777 GRCh37: 1:237942026-237942026
GRCh38: 1:237778726-237778726
23 RYR2 NM_001035.3(RYR2):c.230C>T (p.Ala77Val) SNV Pathogenic 404190 rs1060500142 GRCh37: 1:237494239-237494239
GRCh38: 1:237330939-237330939
24 RYR2 NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) SNV Pathogenic 12954 rs121918597 GRCh37: 1:237798237-237798237
GRCh38: 1:237634937-237634937
25 TRDN NM_006073.4(TRDN):c.618del (p.Ala208fs) Deletion Pathogenic 408737 rs1060502114 GRCh37: 6:123825039-123825039
GRCh38: 6:123503894-123503894
26 RYR2 NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) SNV Pathogenic 201357 rs794728804 GRCh37: 1:237972213-237972213
GRCh38: 1:237808913-237808913
27 CASQ2 NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) SNV Pathogenic 190755 rs139228801 GRCh37: 1:116247829-116247829
GRCh38: 1:115705208-115705208
28 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 GRCh37: 1:237608788-237608788
GRCh38: 1:237445488-237445488
29 RYR2 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) SNV Pathogenic 201194 rs794728708 GRCh37: 1:237540686-237540686
GRCh38: 1:237377386-237377386
30 RYR2 NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) SNV Pathogenic 463579 rs1553339086 GRCh37: 1:237982492-237982492
GRCh38: 1:237819192-237819192
31 TRDN NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter) SNV Pathogenic 532311 rs747836980 GRCh37: 6:123576243-123576243
GRCh38: 6:123255098-123255098
32 TRDN NM_006073.4(TRDN):c.573dup (p.Lys192fs) Duplication Pathogenic 532312 rs1554251609 GRCh37: 6:123833484-123833485
GRCh38: 6:123512339-123512340
33 TRDN NM_006073.4(TRDN):c.1806del (p.Gly603fs) Deletion Pathogenic 532317 rs1381728472 GRCh37: 6:123586463-123586463
GRCh38: 6:123265318-123265318
34 TRDN NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) SNV Pathogenic 532333 rs202219343 GRCh37: 6:123687319-123687319
GRCh38: 6:123366174-123366174
35 TRDN NM_006073.4(TRDN):c.568dup (p.Ile190fs) Duplication Pathogenic 225497 rs1085307100 GRCh37: 6:123833489-123833490
GRCh38: 6:123512344-123512345
36 CASQ2 NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) SNV Pathogenic 41043 rs397507556 GRCh37: 1:116311066-116311066
GRCh38: 1:115768445-115768445
37 TRDN NM_006073.4(TRDN):c.53_56del (p.Asp18fs) Deletion Pathogenic 66015 rs768049331 GRCh37: 6:123892244-123892247
GRCh38: 6:123571099-123571102
38 RYR2 NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) SNV Pathogenic 532384 rs1291829047 GRCh37: 1:237982455-237982455
GRCh38: 1:237819155-237819155
39 TRDN NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs) Deletion Pathogenic 532364 rs781420323 GRCh37: 6:123576253-123576254
GRCh38: 6:123255108-123255109
40 RYR2 NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) SNV Pathogenic 519533 rs1401116572 GRCh37: 1:237604682-237604682
GRCh38: 1:237441382-237441382
41 RYR2 NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) SNV Pathogenic 566084 rs1558481148 GRCh37: 1:237982488-237982488
GRCh38: 1:237819188-237819188
42 RYR2 NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) SNV Pathogenic 201365 rs794728811 GRCh37: 1:237995919-237995919
GRCh38: 1:237832619-237832619
43 TRDN NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) SNV Pathogenic 66016 rs397515458 GRCh37: 6:123825044-123825044
GRCh38: 6:123503899-123503899
44 TRDN NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) SNV Pathogenic 583099 rs1468290898 GRCh37: 6:123837307-123837307
GRCh38: 6:123516162-123516162
45 TRDN NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter) SNV Pathogenic 573657 rs1562267979 GRCh37: 6:123658809-123658809
GRCh38: 6:123337664-123337664
46 RYR2 NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) SNV Pathogenic 201333 rs794728786 GRCh37: 1:237947482-237947482
GRCh38: 1:237784182-237784182
47 RYR2 NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) SNV Pathogenic 201277 rs794728754 GRCh37: 1:237804241-237804241
GRCh38: 1:237640941-237640941
48 TRDN NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) Deletion Pathogenic 423985 rs750469686 GRCh37: 6:123577015-123577018
GRCh38: 6:123255870-123255873
49 CASQ2 NM_001232.3(CASQ2):c.856G>T (p.Glu286Ter) SNV Pathogenic 651334 rs1471576368 GRCh37: 1:116247896-116247896
GRCh38: 1:115705275-115705275
50 CASQ2 NM_001232.3(CASQ2):c.475G>T (p.Glu159Ter) SNV Pathogenic 654552 rs375598471 GRCh37: 1:116280902-116280902
GRCh38: 1:115738281-115738281

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

72 (show all 43)
# Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Ser2246Leu VAR_011396 rs121918597
3 RYR2 p.Pro2328Ser VAR_011397 rs121918603
4 RYR2 p.Asn2386Ile VAR_011398 rs121918601
5 RYR2 p.Arg2474Ser VAR_011399 rs121918598
6 RYR2 p.Asn4104Lys VAR_011400 rs121918599
7 RYR2 p.Gln4201Arg VAR_011401 rs121918605
8 RYR2 p.Arg4497Cys VAR_011402 rs121918600
9 RYR2 p.Val4653Phe VAR_011403 rs121918604
10 RYR2 p.Val2306Ile VAR_023694 rs794728746
11 RYR2 p.Pro4902Leu VAR_023695 rs147545306
12 RYR2 p.Arg4959Gln VAR_023696 rs794728811
13 RYR2 p.Pro164Ser VAR_044086 rs764772142
14 RYR2 p.Arg176Gln VAR_044087 rs794728708
15 RYR2 p.Arg414Leu VAR_044088 rs371121679
16 RYR2 p.Ile419Phe VAR_044089 rs134917673
17 RYR2 p.Arg420Trp VAR_044090 rs190140598
18 RYR2 p.Glu2311Asp VAR_044092 rs794728747
19 RYR2 p.Ala2387Pro VAR_044093 rs794728753
20 RYR2 p.Tyr2392Cys VAR_044094 rs772220753
21 RYR2 p.Ala2403Thr VAR_044095 rs145692928
22 RYR2 p.Thr2504Met VAR_044096 rs769219555
23 RYR2 p.Leu3778Phe VAR_044097 rs147250862
24 RYR2 p.Gly3946Ser VAR_044098 rs794728777
25 RYR2 p.Asn4097Ser VAR_044099 rs794728784
26 RYR2 p.Glu4146Lys VAR_044100 rs134958579
27 RYR2 p.Thr4158Pro VAR_044101 rs120296280
28 RYR2 p.Phe4499Cys VAR_044102 rs145727114
29 RYR2 p.Met4504Ile VAR_044103 rs132362137
30 RYR2 p.Ala4510Thr VAR_044104 rs397516510
31 RYR2 p.Ala4607Pro VAR_044105 rs135916372
32 RYR2 p.Gly4671Arg VAR_044106 rs118835272
33 RYR2 p.Val4771Ile VAR_044107 rs794728804
34 RYR2 p.Ile4848Val VAR_044108 rs136329840
35 RYR2 p.Ala4860Gly VAR_044109 rs121918606
36 RYR2 p.Ile4867Met VAR_044110 rs121809665
37 RYR2 p.Val4880Ala VAR_044111 rs124272382
38 RYR2 p.Asn4895Asp VAR_044112 rs118561900
39 RYR2 p.Glu4950Lys VAR_044113 rs886039172
40 RYR2 p.Cys3800Phe VAR_079514 rs123909370
41 RYR2 p.Ser4124Thr VAR_079515 rs138588191
42 RYR2 p.Gln4159Pro VAR_079516 rs123496341
43 RYR2 p.Ala4556Thr VAR_079517 rs189345192

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 RYR2 RYR1 PPP2R3A KCNQ1 KCNJ2 CALM1
2
Show member pathways
12.34 TRDN SCN5A RYR2 RYR1 KCNQ1 KCNJ2
3
Show member pathways
12.33 RYR2 RYR1 CASQ2 CALM1
4
Show member pathways
12.3 TRDN RYR2 RYR1 FKBP1B CALM1
5
Show member pathways
12.28 RYR2 RYR1 KCNJ2 CALM1
6
Show member pathways
12.23 RYR2 KCNQ1 KCNJ2 CALM1
7 12.15 TRDN RYR2 RYR1 CASQ2 CALM1
8
Show member pathways
12.13 SCN5A RYR2 PPP2R3A MYH7 KCNQ1 CALM1
9 12.08 PPP2R3A KCNQ1 KCNJ2 KCNH2 CALM1
10 11.94 SCN5A RYR2 KCNQ1 KCNH2
11
Show member pathways
11.53 SCN5A KCNQ1 CALM1
12 11.5 TRDN RYR2 MYH7 CASQ2
13 11.02 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 FKBP1B
14 10.83 KCNQ1 KCNJ2
15 10.62 RYR2 RYR1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 SIX5 SCN5A RYR1 PTPN11 PKP2 MYH7
2 plasma membrane GO:0005886 10.31 TRDN SCN5A RYR2 RYR1 PKP2 KCNQ1
3 sarcolemma GO:0042383 9.8 SCN5A RYR2 RYR1 DTNA ANK2
4 sarcoplasmic reticulum GO:0016529 9.8 TRDN RYR2 RYR1 FKBP1B CASQ2 AKAP6
5 Z disc GO:0030018 9.8 SCN5A RYR2 RYR1 MYH7 FKBP1B CASQ2
6 sarcoplasmic reticulum membrane GO:0033017 9.77 TRDN RYR2 RYR1 FKBP1B CASQ2
7 voltage-gated potassium channel complex GO:0008076 9.76 KCNQ1 KCNJ2 KCNH2 CALM1
8 T-tubule GO:0030315 9.73 SCN5A KCNJ2 ANK2 AKAP6
9 sarcomere GO:0030017 9.67 RYR2 MYH7 CALM1
10 smooth endoplasmic reticulum GO:0005790 9.65 RYR2 RYR1 KCNJ2
11 intercalated disc GO:0014704 9.63 SCN5A PKP2 KCNJ2 DSP ANK2 AKAP6
12 sarcoplasmic reticulum lumen GO:0033018 9.52 TRDN CASQ2
13 junctional sarcoplasmic reticulum membrane GO:0014701 9.35 TRDN RYR2 RYR1 CASQ2 AKAP6
14 calcium channel complex GO:0034704 9.1 RYR2 RYR1 FKBP1B CASQ2 CALM1 AKAP6

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.15 SCN5A RYR2 RYR1 KCNQ1 KCNJ2 KCNH2
2 transmembrane transport GO:0055085 10.12 SCN5A RYR2 RYR1 KCNQ1 KCNH2
3 ion transmembrane transport GO:0034220 10.04 TRDN SCN5A RYR2 RYR1 KCNH2 FKBP1B
4 regulation of ion transmembrane transport GO:0034765 9.97 SCN5A KCNQ1 KCNJ2 KCNH2
5 muscle contraction GO:0006936 9.95 TRDN RYR1 MYH7 CALM1
6 cellular calcium ion homeostasis GO:0006874 9.94 TRDN RYR2 RYR1 ANK2
7 regulation of cardiac conduction GO:1903779 9.88 TRDN RYR2 RYR1 FKBP1B CASQ2
8 cardiac conduction GO:0061337 9.87 SCN5A KCNQ1 KCNJ2 KCNH2
9 regulation of cytosolic calcium ion concentration GO:0051480 9.84 RYR2 RYR1 FKBP1B
10 release of sequestered calcium ion into cytosol GO:0051209 9.84 RYR2 RYR1 FKBP1B
11 regulation of cardiac muscle contraction GO:0055117 9.81 RYR2 CALM1 ANK2
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.81 SCN5A KCNQ1 KCNH2 ANK2
13 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.8 TRDN CASQ2 ANK2
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.8 SCN5A PKP2 KCNJ2
15 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.8 RYR2 FKBP1B CASQ2 CALM1 ANK2
16 cardiac muscle contraction GO:0060048 9.8 SCN5A RYR2 MYH7 KCNQ1 KCNH2 CASQ2
17 striated muscle contraction GO:0006941 9.79 MYH7 DTNA CASQ2
18 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.79 RYR2 PKP2 FKBP1B
19 detection of calcium ion GO:0005513 9.78 RYR2 CASQ2 CALM1
20 regulation of cardiac muscle cell contraction GO:0086004 9.77 SCN5A KCNJ2 ANK2
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.77 RYR2 PKP2 DSP
22 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.77 TRDN FKBP1B CASQ2 CALM1 AKAP6
23 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.76 KCNQ1 KCNJ2 KCNH2
24 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNQ1 KCNJ2 KCNH2 AKAP6
25 cellular response to caffeine GO:0071313 9.75 RYR2 RYR1 CASQ2
26 atrial cardiac muscle cell action potential GO:0086014 9.73 SCN5A KCNQ1 ANK2
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.73 TRDN FKBP1B CASQ2 CALM1
28 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.72 FKBP1B CALM1
29 membrane depolarization during action potential GO:0086010 9.72 SCN5A KCNH2
30 membrane repolarization during action potential GO:0086011 9.72 KCNQ1 KCNJ2 KCNH2
31 positive regulation of sodium ion transport GO:0010765 9.71 SCN5A PKP2
32 potassium ion export across plasma membrane GO:0097623 9.71 KCNQ1 KCNH2
33 cellular response to epinephrine stimulus GO:0071872 9.71 RYR2 KCNQ1
34 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.71 KCNQ1 KCNH2
35 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.71 SCN5A KCNJ2
36 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.71 TRDN CALM1 AKAP6
37 membrane repolarization GO:0086009 9.7 KCNQ1 KCNH2
38 response to redox state GO:0051775 9.7 RYR2 FKBP1B
39 response to caffeine GO:0031000 9.7 RYR2 RYR1
40 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.7 RYR2 ANK2
41 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.7 TRDN RYR2 RYR1
42 regulation of cell communication by electrical coupling GO:0010649 9.69 TRDN CASQ2
43 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.69 PKP2 DSP
44 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.69 SCN5A KCNQ1
45 desmosome organization GO:0002934 9.68 PKP2 DSP
46 membrane depolarization during SA node cell action potential GO:0086046 9.68 SCN5A ANK2
47 SA node cell action potential GO:0086015 9.68 SCN5A ANK2
48 sarcoplasmic reticulum calcium ion transport GO:0070296 9.68 RYR2 ANK2
49 regulation of atrial cardiac muscle cell action potential GO:0098910 9.66 RYR2 ANK2
50 regulation of SA node cell action potential GO:0098907 9.65 RYR2 ANK2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 TRDN SIX5 SCN5A RYR2 RYR1 PTPN11
2 protein kinase binding GO:0019901 9.91 SCN5A RYR2 PTPN11 CALM1 ANK2
3 calmodulin binding GO:0005516 9.77 SCN5A RYR2 RYR1 MYH7 KCNQ1
4 voltage-gated ion channel activity GO:0005244 9.76 SCN5A KCNQ1 KCNJ2 KCNH2
5 protein binding, bridging GO:0030674 9.75 TRDN PPP2R3A ANK2
6 ion channel activity GO:0005216 9.72 SCN5A RYR2 RYR1 KCNQ1 KCNH2
7 inward rectifier potassium channel activity GO:0005242 9.59 KCNJ2 KCNH2
8 nitric-oxide synthase binding GO:0050998 9.58 SCN5A CALM1
9 protein kinase A regulatory subunit binding GO:0034237 9.58 RYR2 KCNQ1 AKAP6
10 protein kinase A catalytic subunit binding GO:0034236 9.57 RYR2 KCNQ1
11 adenylate cyclase binding GO:0008179 9.56 CALM1 AKAP6
12 scaffold protein binding GO:0097110 9.56 SCN5A KCNQ1 KCNH2 DSP
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.55 KCNQ1 KCNH2
14 calcium channel inhibitor activity GO:0019855 9.54 FKBP1B CALM1
15 calcium-release channel activity GO:0015278 9.52 RYR2 RYR1
16 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.49 PKP2 DSP
17 calcium-induced calcium release activity GO:0048763 9.43 RYR2 RYR1
18 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.33 KCNQ1 KCNJ2 KCNH2
19 ion channel binding GO:0044325 9.28 TRDN SCN5A RYR2 PKP2 KCNQ1 FKBP1B
20 ryanodine-sensitive calcium-release channel activity GO:0005219 9.13 RYR2 RYR1 FKBP1B

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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