CPVT
MCID: CTC001
MIFTS: 60

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards integrated aliases for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 12 24 53 25 59 37 29 6 15 38
Cpvt 24 53 25 59
Catecholamine-Induced Polymorphic Ventricular Tachycardia 24 53 25
Bidirectional Tachycardia Induced by Catecholamine 53 59
Stress-Induced Polymorphic Ventricular Tachycardia 53 73
Double Tachycardia Induced by Catecholamines 53 59
Familial Polymorphic Ventricular Tachycardia 53 25
Malignant Paroxysmal Ventricular Tachycardia 53 59
Multifocal Ventricular Premature Beats 53 59
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 73
Ventricular Tachycardia, Catecholaminergic Polymorphic 55
Bidirectional Tachycardia Induced by Catecholamines 25
Polymorphic Catecholergic Ventricular Tachycardia 53
Multifocal Premature Ventricular Beats 73
Familial Ventricular Tachycardia 73
Syncopal Paroxysmal Tachycardia 53
Multifocal Pvcs 73
Fpvt 25

Characteristics:

Orphanet epidemiological data:

59
catecholaminergic polymorphic ventricular tachycardia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

GeneReviews:

24
Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data]. therefore, asymptomatic individuals with ryr2-related cpvt are a minority. too few individuals with casq2, calm1, and trdn have been reported to date to allow a robust estimate of the penetrance. all described individuals do show the clinical phenotype...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060674
ICD10 33 I47.2
Orphanet 59 ORPHA3286
UMLS via Orphanet 74 C1631597
ICD10 via Orphanet 34 I47.2
KEGG 37 H01019

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

NIH Rare Diseases : 53 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age.  If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT.  An Implantable Cardioverter Defibrillator (ICD) may also be needed. 

MalaCards based summary : Catecholaminergic Polymorphic Ventricular Tachycardia, also known as cpvt, is related to ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness and ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy, and has symptoms including seizures and syncope. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is CASQ2 (Calsequestrin 2), and among its related pathways/superpathways are Calcium signaling pathway and Cardiac muscle contraction. The drugs Nadolol and Atenolol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are sudden cardiac death and vertigo

Disease Ontology : 12 A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities.

Genetics Home Reference : 25 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

Wikipedia : 76 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disorder that predisposes... more...

GeneReviews: NBK1289

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 34.7 LOC105377982 TRDN
2 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 33.4 ANK2 CALM1 CASQ2 KCNH2 KCNJ2 RYR2
3 ventricular tachycardia, catecholaminergic polymorphic, 3 33.4 KCNJ2 TECRL
4 ventricular fibrillation, paroxysmal familial, 1 31.0 KCNH2 RYR2 SCN5A
5 syncope 30.9 KCNH2 KCNJ2 SCN5A
6 brugada syndrome 30.7 ANK2 CALM2 KCNH2 MYBPC3 SCN5A
7 andersen cardiodysrhythmic periodic paralysis 30.5 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
8 long qt syndrome 30.5 ANK2 CALM1 CALM2 CALM3 KCNH2 KCNJ2
9 atrial fibrillation 30.5 ANK2 KCNH2 KCNJ2 MYBPC3 RYR2 SCN5A
10 cardiac conduction defect 30.4 KCNH2 MYBPC3 RYR1 RYR2 SCN5A
11 left ventricular noncompaction 30.2 FKBP1B MYBPC3 RYR2 SCN5A
12 arrhythmogenic right ventricular cardiomyopathy 30.1 ANK2 KCNH2 RYR1 RYR2 SCN5A
13 cardiac arrest 30.0 ANK2 CALM1 CALM2 CALM3 CASQ2 KCNH2
14 cardiac arrhythmia 29.9 ANK2 KCNH2 KCNJ2 RYR2 SCN5A
15 malignant hyperthermia 29.7 ASPH CALR RYR1 RYR2
16 catecholaminergic polymorphic ventricular tachycardia 5 12.8
17 ventricular tachycardia, catecholaminergic polymorphic, 2 12.1
18 ventricular tachycardia, catecholaminergic polymorphic, 4 12.1
19 ventricular tachycardia, familial 11.5
20 cardiac arrhythmia, ankyrin-b-related 11.5
21 epilepsy 10.3
22 long qt syndrome 14 10.2 ANK2 CALM1
23 long qt syndrome 15 10.2 CALM1 CALM2 CALM3
24 otomycosis 10.2 CALM1 CALM2 CALM3
25 external ear disease 10.2 CALM1 CALM2 CALM3
26 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.2 CALM1 CALM2 CALM3
27 sporotrichosis 10.2 CALM1 CALM2 CALM3
28 otitis externa 10.2 CALM1 CALM2 CALM3
29 spontaneous ocular nystagmus 10.2 CALM1 CALM2 CALM3
30 deafness, autosomal recessive 44 10.2 CALM1 CALM2 CALM3
31 acute dacryocystitis 10.2 CALM1 CALM2 CALM3
32 dystonia 24 10.2 CALM1 CALM2 CALM3
33 gestational choriocarcinoma 10.2 CALM1 CALM2 CALM3
34 triosephosphate isomerase deficiency 10.2 CALM1 CALM2 CALM3
35 leber congenital amaurosis 2 10.2 CALM1 CALM2 CALM3
36 tinea unguium 10.2 CALM1 CALM2 CALM3
37 primary systemic mycosis 10.2 CALM1 CALM2 CALM3
38 clear cell acanthoma 10.2 CALM1 CALM2 CALM3
39 cardiomyopathy, dilated, 1a 10.2 CALM1 CALM2 CALM3
40 cardiomyopathy, dilated, 1p 10.1 CALM1 CALM2 CALM3
41 cerebellar atrophy, developmental delay, and seizures 10.1
42 short qt syndrome 10.1
43 sinoatrial node disease 10.1
44 myocarditis 10.1
45 phaeohyphomycosis 10.1 CALM1 CALM2 CALM3
46 deafness, autosomal dominant 2a 10.1 CALM1 CALM2 CALM3
47 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.1 CALM1 CALM2 CALM3
48 long qt syndrome 3 10.1 ANK2 KCNH2 SCN5A
49 long qt syndrome 13 10.1 KCNH2 SCN5A
50 ceroid lipofuscinosis, neuronal, 11 10.1 CALM1 CALM2 CALM3

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



Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia

Symptoms & Phenotypes for Catecholaminergic Polymorphic Ventricular Tachycardia

Human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
2 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
3 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
4 ventricular tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004756

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures, syncope

MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ASPH CALR CASQ2 FKBP1B KCNH2 KCNJ2
2 muscle MP:0005369 9.36 ASPH CALR CASQ2 FKBP1B KCNH2 KCNJ2

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nadolol Approved Not Applicable 42200-33-9 39147
2
Atenolol Approved Not Applicable 29122-68-7 2249
3
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
4
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
5
Atropine Approved, Vet_approved Not Applicable 51-55-8, 5908-99-6 174174
6 Adrenergic Agents Not Applicable
7 Anti-Arrhythmia Agents Not Applicable
8 Adrenergic Antagonists Not Applicable
9 Diuretics, Potassium Sparing Not Applicable
10 Sodium Channel Blockers Not Applicable
11 Adrenergic beta-Antagonists Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Anti-Asthmatic Agents Not Applicable
14 Adjuvants, Anesthesia Not Applicable
15 Muscarinic Antagonists Not Applicable
16 Cholinergic Antagonists Not Applicable
17 Anesthetics Not Applicable
18 Bronchodilator Agents Not Applicable
19 Mydriatics Not Applicable
20 Autonomic Agents Not Applicable
21 Peripheral Nervous System Agents Not Applicable
22 Cholinergic Agents Not Applicable
23 Respiratory System Agents Not Applicable
24 Parasympatholytics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
2 Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia Completed NCT01117454 Not Applicable Flecainide Acetate;Placebo;Beta blocker
3 Genetic Markers of Cardiovascular Disease in Epilepsy Recruiting NCT02824822
4 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Enrolling by invitation NCT02927223 Not Applicable Atropine
5 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

# Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia 29

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

41
Heart, Testes, Brain

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 325)
# Title Authors Year
1
Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation". ( 29752400 )
2018
2
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
3
Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29720499 )
2018
4
Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1a88- Modified Schwartz Score. ( 29925740 )
2018
5
Mutation-linked excessively tight interaction between the calmodulin-binding domain and c-terminal domain of the cardiac ryanodine receptor as a novel cause of catecholaminergic polymorphic ventricular tachycardia. ( 29427818 )
2018
6
A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child. ( 29668588 )
2018
7
Tetracaine derivatives for catecholaminergic polymorphic ventricular tachycardia: New drugs for correction of diastolic Ca<sup>2+</sup>leak? ( 29410362 )
2018
8
Response by Kapplinger et al to Letter Regarding Article, &amp;quot;Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation&amp;quot;. ( 29752402 )
2018
9
Successful Treatment of Refractory Cardiac Arrest With I^-Blockade and Extracorporeal Life Support in a Pediatric Patient With Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report. ( 29634558 )
2018
10
Antiarrhythmic Effects of Carvedilol and Flecainide in Cardiomyocytes Derived from Catecholaminergic Polymorphic Ventricular Tachycardia Patients. ( 29760739 )
2018
11
Yield of the <i>RYR2</i> Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. ( 29453246 )
2018
12
Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations. ( 29434162 )
2018
13
Three cases of catecholaminergic polymorphic ventricular tachycardia with prolonged QT intervals including two cases of compound mutations. ( 29951146 )
2018
14
A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia. ( 30116135 )
2018
15
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2. ( 29477366 )
2018
16
Efficacy of ivabradine to control ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia. ( 29989676 )
2018
17
Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review. ( 30063211 )
2018
18
They Are Not Monozygotic Twins - Long QT Syndrome Type 1 (LQT1) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). ( 30089744 )
2018
19
A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death. ( 30139651 )
2018
20
Catecholaminergic polymorphic ventricular tachycardia managed as orthostatic dysregulation and epilepsy in 11- and 15-year-old sisters. ( 30157307 )
2018
21
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia. ( 30170228 )
2018
22
Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report. ( 30296944 )
2018
23
In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30355031 )
2018
24
Arrhythmia initiation in catecholaminergic polymorphic ventricular tachycardia type 1 depends on both heart rate and sympathetic stimulation. ( 30399185 )
2018
25
Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry. ( 30403697 )
2018
26
An Update on the Diagnosis and Management of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 30446242 )
2018
27
Investigation of Catecholaminergic Polymorphic Ventricular Tachycardia Children in China: Clinical Characteristics, Delay to Diagnosis, and Misdiagnosis. ( 30511691 )
2018
28
Post-Translational Modifications and Diastolic Calcium Leak Associated to the Novel RyR2-D3638A Mutation Lead to CPVT in Patient-Specific hiPSC-Derived Cardiomyocytes. ( 30413023 )
2018
29
Calmodulin Mutants Linked to Catecholaminergic Polymorphic Ventricular Tachycardia Fail to Inhibit Human RyR2 Channels. ( 28662798 )
2017
30
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570361 )
2017
31
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. ( 28422759 )
2017
32
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. ( 28237968 )
2017
33
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. ( 27861184 )
2017
34
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
35
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. ( 28404607 )
2017
36
Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2. ( 28630169 )
2017
37
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. ( 28405885 )
2017
38
Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial. ( 28492868 )
2017
39
Catecholaminergic polymorphic ventricular tachycardia, an update. ( 29048771 )
2017
40
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. ( 28158428 )
2017
41
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. ( 28084961 )
2017
42
A focus on pharmacological management of catecholaminergic polymorphic ventricular tachycardia. ( 28685702 )
2017
43
Circadian Variation of Ventricular Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29759629 )
2017
44
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. ( 27988446 )
2017
45
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RYR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28789916 )
2017
46
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570362 )
2017
47
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. ( 27838126 )
2017
48
Clockwork and Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29759630 )
2017
49
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia. ( 29178653 )
2017
50
Viral delivered gene therapy to treat Catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. ( 28336343 )
2017

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6 (show top 50) (show all 2257)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
2 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh38 Chromosome 1, 237634937: 237634937
3 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
4 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh38 Chromosome 1, 237791441: 237791441
5 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
6 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396
7 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh37 Chromosome 1, 116269619: 116269619
8 CASQ2 NM_001232.3(CASQ2): c.731A> G (p.His244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28730716 GRCh38 Chromosome 1, 115726998: 115726998
9 RYR2 NM_001035.2(RYR2): c.10254C> T (p.Asn3418=) single nucleotide variant Benign/Likely benign rs138073811 GRCh37 Chromosome 1, 237875068: 237875068
10 RYR2 NM_001035.2(RYR2): c.10254C> T (p.Asn3418=) single nucleotide variant Benign/Likely benign rs138073811 GRCh38 Chromosome 1, 237711768: 237711768
11 RYR2 NM_001035.2(RYR2): c.1134C> T (p.Asp378=) single nucleotide variant Benign/Likely benign rs193922621 GRCh37 Chromosome 1, 237604747: 237604747
12 RYR2 NM_001035.2(RYR2): c.1134C> T (p.Asp378=) single nucleotide variant Benign/Likely benign rs193922621 GRCh38 Chromosome 1, 237441447: 237441447
13 RYR2 NM_001035.2(RYR2): c.13260+14A> G single nucleotide variant Benign/Likely benign rs141528541 GRCh37 Chromosome 1, 237948286: 237948286
14 RYR2 NM_001035.2(RYR2): c.13260+14A> G single nucleotide variant Benign/Likely benign rs141528541 GRCh38 Chromosome 1, 237784986: 237784986
15 RYR2 NM_001035.2(RYR2): c.14029C> T (p.Leu4677=) single nucleotide variant Benign rs112864477 GRCh37 Chromosome 1, 237961409: 237961409
16 RYR2 NM_001035.2(RYR2): c.14029C> T (p.Leu4677=) single nucleotide variant Benign rs112864477 GRCh38 Chromosome 1, 237798109: 237798109
17 RYR2 NM_001035.2(RYR2): c.14809-15C> G single nucleotide variant Benign/Likely benign rs790897 GRCh37 Chromosome 1, 237995837: 237995837
18 RYR2 NM_001035.2(RYR2): c.14809-15C> G single nucleotide variant Benign/Likely benign rs790897 GRCh38 Chromosome 1, 237832537: 237832537
19 RYR2 NM_001035.2(RYR2): c.1611G> A (p.Leu537=) single nucleotide variant Benign/Likely benign rs78281932 GRCh37 Chromosome 1, 237620034: 237620034
20 RYR2 NM_001035.2(RYR2): c.1611G> A (p.Leu537=) single nucleotide variant Benign/Likely benign rs78281932 GRCh38 Chromosome 1, 237456734: 237456734
21 RYR2 NM_001035.2(RYR2): c.1863C> T (p.His621=) single nucleotide variant Benign/Likely benign rs17686573 GRCh37 Chromosome 1, 237656289: 237656289
22 RYR2 NM_001035.2(RYR2): c.1863C> T (p.His621=) single nucleotide variant Benign/Likely benign rs17686573 GRCh38 Chromosome 1, 237492989: 237492989
23 RYR2 NM_001035.2(RYR2): c.2204-7C> G single nucleotide variant Benign/Likely benign rs147479514 GRCh37 Chromosome 1, 237664004: 237664004
24 RYR2 NM_001035.2(RYR2): c.2204-7C> G single nucleotide variant Benign/Likely benign rs147479514 GRCh38 Chromosome 1, 237500704: 237500704
25 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh37 Chromosome 1, 237664074: 237664074
26 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh38 Chromosome 1, 237500774: 237500774
27 RYR2 NM_001035.2(RYR2): c.3251G> A (p.Arg1084Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922624 GRCh37 Chromosome 1, 237729903: 237729903
28 RYR2 NM_001035.2(RYR2): c.3251G> A (p.Arg1084Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922624 GRCh38 Chromosome 1, 237566603: 237566603
29 RYR2 NM_001035.2(RYR2): c.5586C> T (p.Asp1862=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922628 GRCh37 Chromosome 1, 237778014: 237778014
30 RYR2 NM_001035.2(RYR2): c.5586C> T (p.Asp1862=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922628 GRCh38 Chromosome 1, 237614714: 237614714
31 RYR2 NM_001035.2(RYR2): c.5654G> A (p.Gly1885Glu) single nucleotide variant Benign/Likely benign rs41315858 GRCh37 Chromosome 1, 237778082: 237778082
32 RYR2 NM_001035.2(RYR2): c.5654G> A (p.Gly1885Glu) single nucleotide variant Benign/Likely benign rs41315858 GRCh38 Chromosome 1, 237614782: 237614782
33 RYR2 NM_001035.2(RYR2): c.5656G> A (p.Gly1886Ser) single nucleotide variant Benign/Likely benign rs3766871 GRCh37 Chromosome 1, 237778084: 237778084
34 RYR2 NM_001035.2(RYR2): c.5656G> A (p.Gly1886Ser) single nucleotide variant Benign/Likely benign rs3766871 GRCh38 Chromosome 1, 237614784: 237614784
35 RYR2 NM_001035.2(RYR2): c.7365C> T (p.Asp2455=) single nucleotide variant Benign/Likely benign rs72549416 GRCh37 Chromosome 1, 237811766: 237811766
36 RYR2 NM_001035.2(RYR2): c.7365C> T (p.Asp2455=) single nucleotide variant Benign/Likely benign rs72549416 GRCh38 Chromosome 1, 237648466: 237648466
37 RYR2 NM_001035.2(RYR2): c.7488C> T (p.Leu2496=) single nucleotide variant Benign/Likely benign rs143906555 GRCh37 Chromosome 1, 237811889: 237811889
38 RYR2 NM_001035.2(RYR2): c.7488C> T (p.Leu2496=) single nucleotide variant Benign/Likely benign rs143906555 GRCh38 Chromosome 1, 237648589: 237648589
39 RYR2 NM_001035.2(RYR2): c.8873A> G (p.Gln2958Arg) single nucleotide variant Benign/Likely benign rs34967813 GRCh37 Chromosome 1, 237841390: 237841390
40 RYR2 NM_001035.2(RYR2): c.8873A> G (p.Gln2958Arg) single nucleotide variant Benign/Likely benign rs34967813 GRCh38 Chromosome 1, 237678090: 237678090
41 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
42 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh38 Chromosome 1, 115768445: 115768445
43 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh37 Chromosome 1, 237880494: 237880494
44 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh38 Chromosome 1, 237717194: 237717194
45 RYR2 NM_001035.2(RYR2): c.10503C> T (p.Thr3501=) single nucleotide variant Benign/Likely benign rs2797441 GRCh37 Chromosome 1, 237881770: 237881770
46 RYR2 NM_001035.2(RYR2): c.10503C> T (p.Thr3501=) single nucleotide variant Benign/Likely benign rs2797441 GRCh38 Chromosome 1, 237718470: 237718470
47 RYR2 NM_001035.2(RYR2): c.10641G> A (p.Thr3547=) single nucleotide variant Conflicting interpretations of pathogenicity rs144256966 GRCh37 Chromosome 1, 237886514: 237886514
48 RYR2 NM_001035.2(RYR2): c.10641G> A (p.Thr3547=) single nucleotide variant Conflicting interpretations of pathogenicity rs144256966 GRCh38 Chromosome 1, 237723214: 237723214
49 RYR2 NM_001035.2(RYR2): c.10776C> T (p.Ser3592=) single nucleotide variant Benign/Likely benign rs2685301 GRCh37 Chromosome 1, 237890437: 237890437
50 RYR2 NM_001035.2(RYR2): c.10776C> T (p.Ser3592=) single nucleotide variant Benign/Likely benign rs2685301 GRCh38 Chromosome 1, 237727137: 237727137

Expression for Catecholaminergic Polymorphic Ventricular Tachycardia

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

Pathways for Catecholaminergic Polymorphic Ventricular Tachycardia

Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Cardiac muscle contraction hsa04260

Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 ASPH CALM1 CALM2 CALM3 FKBP1B RYR1
2
Show member pathways
12.98 CALM1 CALM2 CALM3 KCNJ2 RYR1 RYR2
3
Show member pathways
12.73 CALM1 CALM2 CALM3 RYR2 SCN5A
4
Show member pathways
12.65 CALM1 CALM2 CALM3 KCNJ2 RYR1 RYR2
5
Show member pathways
12.5 CALM1 CALM2 CALM3 RYR1
6
Show member pathways
12.45 CALM1 CALM2 CALM3 RYR1 RYR2
7
Show member pathways
12.29 CALM1 CALM2 CALM3 CALR CASQ2 RYR1
8 12.28 CALM1 CALM2 CALM3 KCNH2 KCNJ2
9
Show member pathways
12.25 CALM1 CALM2 CALM3 RYR2
10
Show member pathways
12.25 ASPH CALM1 CALM2 CALM3 FKBP1B RYR1
11
Show member pathways
12.14 CALM1 CALM2 CALM3 KCNJ2
12
Show member pathways
12.13 ASPH CALM1 CALM2 CALM3 FKBP1B KCNH2
13
Show member pathways
12.1 CALM1 CALM2 CALM3 RYR1 RYR2
14
Show member pathways
11.95 CALM1 CALM2 CALM3
15
Show member pathways
11.92 CALM1 CALM2 CALM3
16
Show member pathways
11.89 CALM1 CALM2 CALM3
17 11.88 CALM1 CALM2 CALM3
18 11.87 CALM1 CALM2 CALM3
19 11.86 CALM1 CALM2 CALM3 RYR1 RYR2
20 11.85 CALM1 CALM2 CALM3
21
Show member pathways
11.85 CALM1 CALM2 CALM3
22
Show member pathways
11.82 CALM1 CALM2 CALM3
23
Show member pathways
11.81 CALM1 CALM2 CALM3
24
Show member pathways
11.75 CALM1 CALM2 CALM3
25
Show member pathways
11.74 CALM1 CALM2 CALM3
26
Show member pathways
11.72 CALM1 CALM2 CALM3
27 11.72 CALM1 CALM2 CALM3
28 11.7 CALM1 CALM2 CALM3
29
Show member pathways
11.65 CALM1 CALM2 CALM3
30
Show member pathways
11.63 CALM1 CALM2 CALM3 SCN5A
31 11.61 CALM1 CALM2 CALM3
32
Show member pathways
11.59 CALM1 CALM2 CALM3
33 11.52 CALM1 CALM2 CALM3 KCNJ2
34 11.51 CALM1 CALM2 CALM3
35 11.34 CALM1 CALM2 CALM3
36 11.34 CALM1 CALM2 CALM3
37 11.32 CALM1 CALM2 CALM3
38 11.28 CALM1 CALM2 CALM3
39 11.25 ANK2 CASQ2 FKBP1B KCNH2 KCNJ2 RYR2
40 11.24 CALM1 CALM2 CALM3
41 11.24 CALM1 CALM2 CALM3
42 11.21 CALM1 CALM2 CALM3
43 11.2 CALM1 CALM2 CALM3
44 11.19 CALM1 CALM2 CALM3
45 11.03 CALM1 CALM2 CALM3
46 10.95 CALM1 CALM2 CALM3
47 10.93 CALM1 CALM2 CALM3
48 10.79 RYR1 RYR2
49 10.66 CALM1 CALM2 CALM3

GO Terms for Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.83 ANK2 RYR1 RYR2 SCN5A
2 voltage-gated potassium channel complex GO:0008076 9.81 CALM2 CALM3 KCNH2 KCNJ2
3 Z disc GO:0030018 9.8 ANK2 CASQ2 FKBP1B MYBPC3 RYR1 RYR2
4 T-tubule GO:0030315 9.78 ANK2 KCNJ2 RYR1 SCN5A
5 sarcomere GO:0030017 9.77 CALM1 CALM2 CALM3 MYBPC3 RYR2
6 intercalated disc GO:0014704 9.72 ANK2 KCNJ2 SCN5A
7 spindle microtubule GO:0005876 9.71 CALM1 CALM2 CALM3
8 smooth endoplasmic reticulum GO:0005790 9.71 CALR KCNJ2 RYR1 RYR2
9 catalytic complex GO:1902494 9.67 CALM1 CALM2 CALM3
10 sarcoplasmic reticulum lumen GO:0033018 9.63 CALR CASQ2 TRDN
11 sarcoplasmic reticulum membrane GO:0033017 9.63 ASPH CASQ2 FKBP1B RYR1 RYR2 TRDN
12 junctional sarcoplasmic reticulum membrane GO:0014701 9.62 CASQ2 RYR1 RYR2 TRDN
13 junctional membrane complex GO:0030314 9.61 CASQ2 RYR1 TRDN
14 A band GO:0031672 9.57 ANK2 MYBPC3
15 sarcoplasmic reticulum GO:0016529 9.5 ASPH CALR CASQ2 FKBP1B RYR1 RYR2
16 calcium channel complex GO:0034704 9.17 CALM1 CALM2 CALM3 CASQ2 FKBP1B RYR1
17 plasma membrane GO:0005886 10.35 ANK2 ASPH CALM1 CALM2 CALM3 KCNH2
18 protein-containing complex GO:0032991 10.03 CALM1 CALM2 CALM3 CALR RYR1 RYR2

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

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.97 ASPH CALM1 MYBPC3 RYR1 TRDN
2 cellular calcium ion homeostasis GO:0006874 9.95 ANK2 CALR RYR1 RYR2 TRDN
3 calcium-mediated signaling GO:0019722 9.92 CALM1 CALM2 CALM3 RYR2
4 cardiac muscle contraction GO:0060048 9.89 CASQ2 KCNH2 MYBPC3 RYR2 SCN5A
5 response to calcium ion GO:0051592 9.87 CALM1 CALM2 CALM3
6 positive regulation of protein serine/threonine kinase activity GO:0071902 9.87 CALM1 CALM2 CALM3
7 regulation of heart rate by cardiac conduction GO:0086091 9.86 ANK2 KCNH2 KCNJ2 SCN5A
8 regulation of cytosolic calcium ion concentration GO:0051480 9.85 FKBP1B RYR1 RYR2
9 substantia nigra development GO:0021762 9.85 CALM1 CALM2 CALM3
10 release of sequestered calcium ion into cytosol GO:0051209 9.85 FKBP1B RYR1 RYR2
11 regulation of cardiac conduction GO:1903779 9.85 ASPH CASQ2 FKBP1B RYR1 RYR2 TRDN
12 regulation of cytokinesis GO:0032465 9.84 CALM1 CALM2 CALM3
13 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.83 CALM1 CALM2 CALM3
14 positive regulation of protein dephosphorylation GO:0035307 9.81 CALM1 CALM2 CALM3
15 positive regulation of protein autophosphorylation GO:0031954 9.81 CALM1 CALM2 CALM3
16 ventricular cardiac muscle cell action potential GO:0086005 9.81 ANK2 KCNH2 RYR2 SCN5A
17 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.8 ANK2 KCNH2 SCN5A
18 regulation of cardiac muscle contraction GO:0055117 9.8 ANK2 CALM1 CALM2 CALM3 RYR2
19 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.79 CALM1 CALM3 FKBP1B
20 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.79 CALM1 CALM2 CALM3
21 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.78 CALM1 CALM2 CALM3
22 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.78 CALM1 CALM2 CALM3 TRDN
23 regulation of cardiac muscle cell contraction GO:0086004 9.77 ANK2 KCNJ2 SCN5A
24 regulation of membrane repolarization GO:0060306 9.77 CASQ2 KCNH2 KCNJ2
25 cellular response to caffeine GO:0071313 9.76 CASQ2 RYR1 RYR2
26 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.76 FKBP1B RYR1 RYR2 TRDN
27 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.75 CALM1 CALM2 CALM3
28 cardiac muscle cell action potential involved in contraction GO:0086002 9.73 KCNJ2 SCN5A
29 membrane depolarization during action potential GO:0086010 9.73 KCNH2 SCN5A
30 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNH2 KCNJ2
31 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.73 CALM1 CALM2 CALM3 CASQ2 FKBP1B TRDN
32 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 FKBP1B RYR2
33 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.72 ANK2 TRDN
34 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 KCNJ2 SCN5A
35 regulation of synaptic vesicle endocytosis GO:1900242 9.72 CALM1 CALM3
36 establishment of protein localization to membrane GO:0090150 9.72 CALM1 CALM3
37 detection of calcium ion GO:0005513 9.72 CALM1 CALM2 CALM3 CASQ2 RYR2
38 response to redox state GO:0051775 9.71 FKBP1B RYR2
39 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNH2 KCNJ2
40 atrial cardiac muscle cell action potential GO:0086014 9.71 ANK2 SCN5A
41 membrane repolarization during action potential GO:0086011 9.71 KCNH2 KCNJ2
42 protein maturation by protein folding GO:0022417 9.71 CALR FKBP1B
43 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.71 CALM1 CALM2 CALM3
44 response to caffeine GO:0031000 9.7 RYR1 RYR2
45 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.7 ANK2 RYR2
46 regulation of high voltage-gated calcium channel activity GO:1901841 9.7 CALM1 CALM3
47 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.7 CALM1 CALM2 CALM3
48 SA node cell action potential GO:0086015 9.69 ANK2 SCN5A
49 membrane depolarization during SA node cell action potential GO:0086046 9.69 ANK2 SCN5A
50 regulation of cell communication by electrical coupling GO:0010649 9.68 CASQ2 TRDN

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.99 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A
2 calcium ion binding GO:0005509 9.97 ASPH CALM1 CALM2 CALM3 CALR CASQ2
3 protein domain specific binding GO:0019904 9.89 CALM1 CALM2 CALM3 SCN5A
4 ion channel activity GO:0005216 9.86 KCNH2 RYR1 RYR2 SCN5A
5 calcium-dependent protein binding GO:0048306 9.75 CALM1 CALM3 CASQ2
6 disordered domain specific binding GO:0097718 9.71 CALM1 CALM2 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.7 CALM1 CALM2 CALM3
8 nitric-oxide synthase binding GO:0050998 9.65 CALM1 CALM3 SCN5A
9 adenylate cyclase binding GO:0008179 9.63 CALM1 CALM2 CALM3
10 calcium channel inhibitor activity GO:0019855 9.61 CALM1 CALM2 FKBP1B
11 calcium-release channel activity GO:0015278 9.6 RYR1 RYR2
12 nitric-oxide synthase regulator activity GO:0030235 9.58 CALM1 CALM3
13 protein phosphatase activator activity GO:0072542 9.58 CALM1 CALM2 CALM3
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.57 KCNH2 KCNJ2
15 calcium-induced calcium release activity GO:0048763 9.55 RYR1 RYR2
16 adenylate cyclase activator activity GO:0010856 9.5 CALM1 CALM2 CALM3
17 type 3 metabotropic glutamate receptor binding GO:0031800 9.49 CALM1 CALM3
18 ryanodine-sensitive calcium-release channel activity GO:0005219 9.43 FKBP1B RYR1 RYR2
19 N-terminal myristoylation domain binding GO:0031997 9.33 CALM1 CALM2 CALM3
20 titin binding GO:0031432 9.26 CALM1 CALM2 CALM3 MYBPC3
21 ion channel binding GO:0044325 9.23 ANK2 CALM1 CALM2 CALM3 FKBP1B RYR2

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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