CPVT1
MCID: VNT013
MIFTS: 49

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 (CPVT1) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 54 13 69
Ventricular Tachycardia Catecholaminergic Polymorphic 1 66 29
Stress-Induced Polymorphic Ventricular Tachycardia 66 69
Bidirectional Tachycardia 66 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 66
Catecholaminergic Polymorphic Ventricular Tachycardia 1 12
Double Tachycardia Induced by Catecholamines 66
Malignant Paroxysmal Ventricular Tachycardia 66
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 66
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 66
Syncopal Paroxysmal Tachycardia 66
Tachycardia, Ventricular 42
Syncopal Tachyarythmia 66
Multifocal Pvcs 69
Cvpt1 12
Vtsip 66
Cpvt1 66

Characteristics:

HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 1:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 604772
Disease Ontology 12 DOID:0060675
ICD10 33 I47.2
MedGen 40 C1631597
MeSH 42 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

OMIM : 54 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized... (604772) more...

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, also known as ventricular tachycardia catecholaminergic polymorphic 1, is related to paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including seizures, syncope and atrial fibrillation. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Propafenone and Sotalol have been mentioned in the context of this disorder. Affiliated tissues include heart.

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 : 66 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

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Catecholaminergic Polymorphic Ventricular Tachycardia 5 Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
id Related Disease Score Top Affiliating Genes
1 paroxysmal ventricular fibrillation 12.3
2 bidirectional tachycardia 12.2
3 ventricular fibrillation, paroxysmal familial, 2 11.8
4 ventricular fibrillation, familial, 1 11.7
5 ventricular tachycardia, catecholaminergic polymorphic, 2 11.3
6 ventricular tachycardia, catecholaminergic polymorphic, 4 11.3
7 catecholaminergic polymorphic ventricular tachycardia 11.3
8 specific language impairment 4 10.1 RYR2 SCN5A
9 fibular hemimelia, bilateral 10.1 DSG2 RYR2
10 fibular hemimelia, unilateral 10.1 DSG2 RYR2
11 congenital absence of upper arm and forearm with hand present, bilateral 10.1 DSG2 RYR2
12 sick sinus syndrome 1 10.1 RYR2 SCN5A
13 mosaic trisomy 1 10.0 DSG2 SCN5A
14 familial sick sinus syndrome 10.0 CALM1 SCN5A
15 familial periodic paralysis 10.0 RYR2 SCN5A
16 retinitis pigmentosa 18 10.0 DSG2 SCN5A
17 leukodystrophy, hypomyelinating, 2 10.0 CASQ2 RYR2
18 pervasive developmental disorder 10.0 DSG2 RYR2
19 pollen allergy 10.0 RYR2 SCN5A
20 primary cutaneous gamma/delta-positive t-cell lymphoma 9.9 DSG2 SCN5A
21 familial partial lipodystrophy 9.9 DSG2 RYR2 SCN5A
22 bleeding disorder, platelet-type, 15 9.9 CALM1 DSG2 RYR2
23 atrial fibrillation, familial, 3 9.9 CALM1 RYR2 SCN5A
24 adams-oliver syndrome 9.9 RYR2 SCN5A
25 hyperthyroxinemia 9.9 CALM1 RYR2 SCN5A
26 cdkl5-related angelman-like syndrome 9.8 DSG2 RYR2 SCN5A
27 emery-dreifuss muscular dystrophy, dominant type 9.8 DSG2 RYR2 SCN5A
28 keppen-lubinsky syndrome 9.8 CASQ2 RYR2 SCN5A
29 parkinson disease 20, early-onset 9.8 CASQ2 RYR2 SCN5A
30 spastic paraplegia 47, autosomal recessive 9.6 CALM1 CASQ2 DSG2 RYR2
31 mastoiditis 9.6 CALM1 CASQ2 RYR2 SCN5A
32 arrhythmogenic right ventricular dysplasia 2 9.4 CALM1 CASQ2 DSG2 RYR2 SCN5A
33 autosomal dominant nocturnal frontal lobe epilepsy 2 9.4 CALM1 CASQ2 DSG2 RYR2 SCN5A

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Symptoms by clinical synopsis from OMIM:

604772

Clinical features from OMIM:

604772

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 syncope 32 HP:0001279
3 atrial fibrillation 32 HP:0005110
4 ventricular tachycardia 32 HP:0004756

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 315)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propafenone Approved Phase 4 54063-53-5 4932
2
Sotalol Approved Phase 4,Phase 3 959-24-0, 3930-20-9 5253
3
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
4
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
5
Nicorandil Approved Phase 4 65141-46-0 47528
6
Ticagrelor Approved Phase 4 274693-27-5 9871419
7
Amiodarone Approved, Investigational Phase 4,Phase 3,Phase 2 1951-25-3 2157
8
Ranolazine Approved, Investigational Phase 4,Phase 3,Phase 2 142387-99-3, 95635-55-5 56959
9
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
10
Mexiletine Approved Phase 4,Phase 3 31828-71-4 4178
11
Procainamide Approved Phase 4,Phase 3 51-06-9 4913
12
Verapamil Approved Phase 4,Phase 2,Phase 3,Phase 1 52-53-9 2520
13
Eplerenone Approved Phase 4,Phase 3 107724-20-9 150310 443872
14
Spironolactone Approved Phase 4,Phase 3,Phase 2 1952-01-7, 52-01-7 5833
15
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 1 50-28-2 5757 53477783
16
Ethinyl Estradiol Approved Phase 4,Phase 1 57-63-6 5991
17
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
18
Moxifloxacin Approved, Investigational Phase 4,Phase 1 354812-41-2, 151096-09-2 152946
19
Norgestimate Approved Phase 4,Phase 1 35189-28-7 6540478
20
Ofloxacin Approved Phase 4 82419-36-1 4583
21
Carvedilol Approved, Investigational Phase 4,Phase 2 72956-09-3 2585
22
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
23
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
24
Ondansetron Approved Phase 4 99614-02-5 4595
25
Antazoline Approved Phase 4 91-75-8 2200
26
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
27
Ibutilide Approved Phase 4,Phase 2 122647-32-9, 122647-31-8 60753
28
Progesterone Approved, Vet_approved Phase 4,Phase 2 57-83-0 5994
29
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
30
Metoprolol Approved, Investigational Phase 4,Phase 2,Phase 3 37350-58-6, 51384-51-1 4171
31
Bisoprolol Approved Phase 4,Phase 3 66722-44-9 2405
32
Apixaban Approved Phase 4 503612-47-3 10182969
33
Methyltestosterone Approved Phase 4 58-18-4 6010
34
Testosterone Approved, Investigational Phase 4 58-22-0 6013
35
Digoxin Approved Phase 4 20830-75-5 30322 2724385
36
Diltiazem Approved Phase 4 42399-41-7 39186
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
38
Ajmaline Approved, Nutraceutical Phase 4 4360-12-7 441080
39 tannic acid Approved, Nutraceutical Phase 4,Phase 2
40 Adrenergic Agents Phase 4,Phase 3,Phase 2
41 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
42 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 2
43 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Autonomic Agents Phase 4,Phase 3,Phase 2
45 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2
46 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Sodium Channel Blockers Phase 4,Phase 3,Phase 2
49 Sympatholytics Phase 4,Phase 3,Phase 2
50 Antihypertensive Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 411)
id Name Status NCT ID Phase
1 Catheter Ablation Versus Antiarrhythmic Drugs for Outflow Tract Ventricular ARrhythmias Unknown status NCT01780311 Phase 4
2 Effect of Nicorandil for the Patients of Acute ST Segment Elevation Myocardial Infarction Unknown status NCT02435797 Phase 4
3 Study of Defibrillation Testing In Patients Undergoing Initial ICD Implantation Unknown status NCT01905007 Phase 4
4 Safety of Amiodarone and Ranolazine Together in Patients With Angina Unknown status NCT01558830 Phase 4
5 IRIS : Use of Implantable Defibrillator in High-Risk Patients Early After Acute Myocardial Infarction Unknown status NCT00157768 Phase 4
6 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
7 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
8 Magnesium to Reduce Implantable Cardioverter Defibrillator (ICD) Shocks and Improve Patient's Quality of Life. Unknown status NCT00282620 Phase 4
9 Effects of Levothyroxine Supplementation in Patients With Systolic Heart Failure and Subclinical Hypothyroidism Unknown status NCT02316743 Phase 4
10 Ventricular Tachycardia (VT) Ablation or Escalated Drug Therapy Completed NCT00905853 Phase 4
11 Ultra-high Density Mapping With Multielectrode Catheter vs Conventional Point by Point Mapping for Ventricular Tachycardia Substrate Ablation Completed NCT02083016 Phase 4
12 Catheter Evaluation for Endocardial Ablation in Patients With Ventricular Tachycardia Completed NCT00412607 Phase 4
13 Stereotaxis Study To Obliterate Persistent Ventricular Tachycardia Completed NCT00851279 Phase 4
14 Percutaneous Hemodynamic Support With Impella 2.5 During Scar-related Ventricular Tachycardia Ablation Completed NCT01294267 Phase 4
15 ADVANCE-D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy Completed NCT00147277 Phase 4
16 SMS: Substrate Modification Study in Patients Getting an Implantable Cardioverter Defibrillator (ICD) Completed NCT00170287 Phase 4
17 ADVANCE CRT - D: Antitachycardia Pacing (ATP) Delivery for Painless Implantable Cardioverter Defibrillator (ICD) Therapy Completed NCT00147290 Phase 4
18 Optimal Pharmacological Therapy In Implantable Defibrillator Patients (OPTIC) Completed NCT00257959 Phase 4
19 Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias Completed NCT00702117 Phase 4
20 Fast VT Episodes Are Terminated by ATP One Shot Completed NCT00617578 Phase 4
21 Remote Follow-up of Patients Receiving Implantable Cardioverter Defibrillator for Prophylactic Therapy Completed NCT00401466 Phase 4
22 Atorvastatin For The Reduction Of Ventricular Arrhythmias Completed NCT00457340 Phase 4
23 VAST - Ventricular Arrhythmia Suppression Trial Completed NCT00158912 Phase 4
24 The Use of Dual Chamber ICD With Special Programmed Features to Lower the Risk of Inappropriate Shock Completed NCT00787800 Phase 4
25 Oral Verapamil in Acute Paroxysmal Supra Ventricular Tachycardia(PSVT) Recurrence Control Completed NCT01655316 Phase 4
26 Survival of Patients With Primary Prophylactic ICD Indication Completed NCT00619593 Phase 4
27 Sleep Apnea-hypopnea Syndrome (SAHS) and Ventricular Arrhythmias Completed NCT00765713 Phase 4
28 RIGHT: Rhythm ID Going Head-to-Head Trial Completed NCT00148954 Phase 4
29 Influence of Home Monitoring on the Clinical Status of Heart Failure Patients With an Impaired Left Ventricular Function Completed NCT00538356 Phase 4
30 Impact Of Eplerenone On Cardiovascular Outcomes In Patients Post Myocardial Infarction Completed NCT01176968 Phase 4
31 Avelox for Treatment of Elderly Patients With Community Acquired Pneumonia Completed NCT00665327 Phase 4
32 DISCOVERY: Diagnostic Data and Genetic Polymorphisms in ICD Patients. Completed NCT00478933 Phase 4
33 Study to Verify Proper Detection of Supraventricular Tachyarrhythmia With Single-Lead Dual-Chamber Implantable Cardioverter-Defibrillators (ADRIA) Completed NCT00324662 Phase 4
34 Biventricular Tachycardias Outcome Trial Completed NCT00729235 Phase 4
35 Programming Implantable Cardioverter Defibrillators in Patients With Primary Prevention Indication Completed NCT00743522 Phase 4
36 Avoid DeliVering TherApies for Non-sustained Arrhythmias in ICD PatiEnts III Completed NCT00617175 Phase 4
37 REFLEx Study (ENDOTAK RELIANCE G Evaluation of Handling and Electrical Performance Completed NCT00146822 Phase 4
38 Efficacy of Different Perioperative Statin Regimens on the Protection Against Post Coronary Artery Bypass Grafting Major Adverse Cardio-cerebral Events Completed NCT02706860 Phase 4
39 Quetiapine for Delirium Prophylaxis in High-risk Critically Ill Patients Completed NCT02612948 Phase 4
40 Automate Detection of Sleep Apnea by ApneascanTM Completed NCT02045173 Phase 4
41 Reduce Ventricular Pacing in Dual Chamber Implantable Cardioverter Defibrillators Using AutoIntrinsic Conduction Search Study Completed NCT00187239 Phase 4
42 PANORAMA Observational Study Completed NCT00382525 Phase 4
43 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4
44 Statin Therapy in Heart Failure: Potential Mechanisms of Benefit Completed NCT00233480 Phase 4
45 Optimal Anti-tachycardia Therapy in Implantable Cardioverter-defibrillator (ICD) Patients Without Pacing Indications Completed NCT00729703 Phase 4
46 Spontaneous Atrio Ventricular Conduction Preservation Completed NCT00655213 Phase 4
47 INTRINSIC RV - Inhibition of Unnecessary RV Pacing With AV Search Hysteresis in ICDs Completed NCT00148967 Phase 4
48 CryoCath Freezor CryoAblation Catheter System (CRYOFACTS) Completed NCT00621621 Phase 4
49 Beluga - Clinical Observations of Automatic Algorithms for Cardiac Pacing Completed NCT00286858 Phase 4
50 TReatment of Atrial Fibrillation With Dual dEfibrillator in Heart Failure Patients Completed NCT00345592 Phase 4

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Cochrane evidence based reviews: tachycardia, ventricular

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 29

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

39
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

66 (show all 39)
id 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
12 RYR2 p.Arg4959Gln VAR_023696 rs794728811
13 RYR2 p.Pro164Ser VAR_044086
14 RYR2 p.Arg176Gln VAR_044087 rs794728708
15 RYR2 p.Arg414Leu VAR_044088
16 RYR2 p.Ile419Phe VAR_044089
17 RYR2 p.Arg420Trp VAR_044090 rs190140598
18 RYR2 p.Glu2311Asp VAR_044092 rs794728747
19 RYR2 p.Ala2387Pro VAR_044093
20 RYR2 p.Tyr2392Cys VAR_044094 rs772220753
21 RYR2 p.Ala2403Thr VAR_044095
22 RYR2 p.Thr2504Met VAR_044096 rs769219555
23 RYR2 p.Leu3778Phe VAR_044097
24 RYR2 p.Gly3946Ser VAR_044098 rs794728777
25 RYR2 p.Asn4097Ser VAR_044099 rs794728784
26 RYR2 p.Glu4146Lys VAR_044100
27 RYR2 p.Thr4158Pro VAR_044101
28 RYR2 p.Phe4499Cys VAR_044102
29 RYR2 p.Met4504Ile VAR_044103
30 RYR2 p.Ala4510Thr VAR_044104 rs397516510
31 RYR2 p.Ala4607Pro VAR_044105
32 RYR2 p.Gly4671Arg VAR_044106
33 RYR2 p.Val4771Ile VAR_044107 rs794728804
34 RYR2 p.Ile4848Val VAR_044108
35 RYR2 p.Ala4860Gly VAR_044109 rs121918606
36 RYR2 p.Ile4867Met VAR_044110
37 RYR2 p.Val4880Ala VAR_044111
38 RYR2 p.Asn4895Asp VAR_044112
39 RYR2 p.Glu4950Lys VAR_044113

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Pathogenic/Likely pathogenic rs786205418 GRCh37 Chromosome 15, 73635725: 73635726
2 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
3 RYR2 NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser) single nucleotide variant Pathogenic rs121918598 GRCh37 Chromosome 1, 237811823: 237811823
4 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh37 Chromosome 1, 237947324: 237947324
5 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
6 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh37 Chromosome 1, 237802368: 237802368
7 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh37 Chromosome 1, 237961337: 237961337
8 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh37 Chromosome 1, 237947614: 237947614
9 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh37 Chromosome 1, 237982481: 237982481
10 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
11 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh37 Chromosome 1, 237493979: 237495101
12 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
13 CALM1 NM_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
14 DSP NM_004415.3(DSP): c.2131_2132delAG (p.Ser711Cysfs) deletion Pathogenic/Likely pathogenic rs587782927 GRCh37 Chromosome 6, 7574319: 7574320
15 RYR2 NM_001035.2(RYR2): c.1847C> T (p.Ser616Leu) single nucleotide variant Likely pathogenic rs730880187 GRCh37 Chromosome 1, 237656273: 237656273
16 RYR2 NM_001035.2(RYR2): c.3271G> A (p.Glu1091Lys) single nucleotide variant Likely pathogenic rs730880191 GRCh37 Chromosome 1, 237729923: 237729923
17 RYR2 NM_001035.2(RYR2): c.12325A> G (p.Met4109Val) single nucleotide variant Likely pathogenic rs730880196 GRCh37 Chromosome 1, 237947337: 237947337
18 RYR2 NM_001035.2(RYR2): c.14726C> T (p.Thr4909Ile) single nucleotide variant Likely pathogenic rs730880201 GRCh37 Chromosome 1, 237993900: 237993900
19 RYR2 NM_001035.2(RYR2): c.527G> A (p.Arg176Gln) single nucleotide variant Pathogenic rs794728708 GRCh38 Chromosome 1, 237377386: 237377386
20 RYR2 NM_001035.2(RYR2): c.7202G> A (p.Arg2401His) single nucleotide variant Likely pathogenic rs794728756 GRCh37 Chromosome 1, 237804283: 237804283
21 RYR2 NM_001035.2(RYR2): c.14876G> A (p.Arg4959Gln) single nucleotide variant Pathogenic rs794728811 GRCh38 Chromosome 1, 237832619: 237832619
22 CASQ2 NM_001232.3(CASQ2): c.546delT (p.Phe182Leufs) deletion Likely pathogenic rs763955301 GRCh37 Chromosome 1, 116275582: 116275582
23 RYR2 NM_001035.2(RYR2): c.9688C> A (p.Gln3230Lys) single nucleotide variant Likely pathogenic rs886037908 GRCh37 Chromosome 1, 237870356: 237870356
24 RYR2 NM_001035.2(RYR2): c.13737C> A (p.His4579Gln) single nucleotide variant Likely pathogenic rs886037907 GRCh37 Chromosome 1, 237955578: 237955578

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.43 DSG2 SCN5A
2 sarcomere GO:0030017 9.4 CALM1 RYR2
3 sarcoplasmic reticulum GO:0016529 9.37 CASQ2 RYR2
4 Z disc GO:0030018 9.33 CASQ2 RYR2 SCN5A
5 intercalated disc GO:0014704 9.32 DSG2 SCN5A
6 sarcoplasmic reticulum membrane GO:0033017 9.26 CASQ2 RYR2
7 junctional sarcoplasmic reticulum membrane GO:0014701 8.96 CASQ2 RYR2
8 calcium channel complex GO:0034704 8.8 CALM1 CASQ2 RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.67 CALM1 CASQ2 RYR2 SCN5A
2 regulation of cardiac conduction GO:1903779 9.55 CASQ2 RYR2
3 calcium-mediated signaling GO:0019722 9.54 CALM1 RYR2
4 regulation of heart rate by cardiac conduction GO:0086091 9.52 DSG2 SCN5A
5 regulation of cardiac muscle contraction GO:0055117 9.51 CALM1 RYR2
6 cardiac muscle contraction GO:0060048 9.5 CASQ2 RYR2 SCN5A
7 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.49 CALM1 CASQ2
8 ventricular cardiac muscle cell action potential GO:0086005 9.48 RYR2 SCN5A
9 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.46 CALM1 CASQ2
10 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.43 DSG2 RYR2
11 cellular response to caffeine GO:0071313 9.4 CASQ2 RYR2
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.33 CALM1 CASQ2 RYR2
13 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.26 CASQ2 RYR2
14 detection of calcium ion GO:0005513 9.13 CALM1 CASQ2 RYR2
15 regulation of heart rate GO:0002027 8.92 CALM1 CASQ2 RYR2 SCN5A

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 CALM1 CASQ2 DSG2 RYR2
2 protein kinase binding GO:0019901 9.43 CALM1 RYR2 SCN5A
3 ion channel activity GO:0005216 9.37 RYR2 SCN5A
4 calcium-dependent protein binding GO:0048306 9.32 CALM1 CASQ2
5 nitric-oxide synthase binding GO:0050998 8.96 CALM1 SCN5A
6 ion channel binding GO:0044325 8.8 CALM1 RYR2 SCN5A

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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