MCID: CTC001
MIFTS: 58

Catecholaminergic Polymorphic Ventricular Tachycardia

Categories: Rare diseases, Cardiovascular diseases, Genetic 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Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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, 3 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 Atenolol and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are syncope and sudden cardiac death

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 60)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 3 33.2 KCNJ2 TECRL
2 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.2 ANK2 CALM1 CASQ2 KCNH2 KCNJ2 RYR2
3 ventricular fibrillation, paroxysmal familial, 1 31.2 KCNH2 RYR2 SCN5A
4 syncope 31.0 KCNH2 KCNJ2 SCN5A
5 andersen cardiodysrhythmic periodic paralysis 30.6 KCNH2 KCNJ2 SCN5A
6 brugada syndrome 30.5 ANK2 CALM2 KCNH2 SCN5A
7 left ventricular noncompaction 30.0 FKBP1B MYBPC3 RYR2 SCN5A
8 atrial fibrillation 29.7 ANK2 KCNH2 KCNJ2 MYBPC3 RYR2 SCN5A
9 cardiac conduction defect 29.7 KCNH2 MYBPC3 RYR1 RYR2 SCN5A
10 arrhythmogenic right ventricular cardiomyopathy 29.5 ANK2 KCNH2 RYR1 RYR2 SCN5A
11 cardiac arrest 28.9 CALM1 CALM3 CASQ2 MYBPC3 RYR2 SCN5A
12 malignant hyperthermia 28.4 ASPH CALR RYR1 RYR2
13 long qt syndrome 27.3 ANK2 CALM1 CALM2 CALM3 CALR KCNH2
14 catecholaminergic polymorphic ventricular tachycardia 5 12.6
15 ventricular tachycardia, catecholaminergic polymorphic, 2 12.0
16 ventricular tachycardia, catecholaminergic polymorphic, 4 12.0
17 ventricular tachycardia, familial 11.3
18 cardiac arrhythmia, ankyrin-b-related 11.3
19 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 10.8 LOC105377982 TRDN
20 long qt syndrome 14 10.5 ANK2 CALM1
21 acute dacryocystitis 10.5 CALM1 CALM2 CALM3
22 external ear disease 10.5 CALM1 CALM2 CALM3
23 long qt syndrome 15 10.5 CALM1 CALM2 CALM3
24 otitis externa 10.5 CALM1 CALM2 CALM3
25 otomycosis 10.5 CALM1 CALM2 CALM3
26 spontaneous ocular nystagmus 10.5 CALM1 CALM2 CALM3
27 sporotrichosis 10.5 CALM1 CALM2 CALM3
28 deafness, autosomal recessive 44 10.5 CALM1 CALM2 CALM3
29 dystonia 24 10.5 CALM1 CALM2 CALM3
30 triosephosphate isomerase deficiency 10.5 CALM1 CALM2 CALM3
31 leber congenital amaurosis 2 10.5 CALM1 CALM2 CALM3
32 primary systemic mycosis 10.5 CALM1 CALM2 CALM3
33 clear cell acanthoma 10.5 CALM1 CALM2 CALM3
34 cardiomyopathy, dilated, 1a 10.4 CALM1 CALM2 CALM3
35 cardiomyopathy, dilated, 1p 10.4 CALM1 CALM2 CALM3
36 deafness, autosomal dominant 2a 10.4 CALM1 CALM2 CALM3
37 arrhythmogenic right ventricular dysplasia, familial, 2 10.4 CASQ2 RYR1 RYR2
38 primary cutaneous amyloidosis 10.4 CALM1 CALM2 CALM3
39 long qt syndrome 3 10.4 ANK2 KCNH2 SCN5A
40 sacral defect with anterior meningocele 10.4 RYR1 VANGL1
41 long qt syndrome 13 10.4 KCNH2 SCN5A
42 familial short qt syndrome 10.3 KCNH2 KCNJ2
43 long qt syndrome 12 10.3 KCNH2 SCN5A
44 brugada syndrome 1 10.2 KCNH2 SCN5A
45 aging 10.0
46 short qt syndrome 10.0
47 epilepsy 10.0
48 depression 10.0
49 heart conduction disease 9.9 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
50 cardiac arrhythmia 9.8 ANK2 KCNH2 KCNJ2 RYR2 SCN5A

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 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
2 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
3 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
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 MYBPC3 RYR1 RYR2 SCN5A VANGL1 ASPH
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
Atenolol Approved Not Applicable 29122-68-7 2249
2
Metoprolol Approved, Investigational Not Applicable 37350-58-6, 51384-51-1 4171
3
Nadolol Approved Not Applicable 42200-33-9 39147
4
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
5
Atropine Approved, Vet_approved Not Applicable 5908-99-6, 51-55-8 174174
6 Adrenergic Agents Not Applicable
7 Adrenergic Antagonists Not Applicable
8 Adrenergic beta-Antagonists Not Applicable
9 Anti-Arrhythmia Agents Not Applicable
10 Diuretics, Potassium Sparing Not Applicable
11 Neurotransmitter Agents Not Applicable
12 Sodium Channel Blockers Not Applicable
13 Adjuvants, Anesthesia Not Applicable
14 Anesthetics Not Applicable
15 Anti-Asthmatic Agents Not Applicable
16 Autonomic Agents Not Applicable
17 Bronchodilator Agents Not Applicable
18 Cholinergic Agents Not Applicable
19 Cholinergic Antagonists Not Applicable
20 Muscarinic Antagonists Not Applicable
21 Mydriatics Not Applicable
22 Parasympatholytics Not Applicable
23 Peripheral Nervous System Agents Not Applicable
24 Respiratory System Agents 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

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 285)
# 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
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2. ( 29477366 )
2018
15
Calmodulin Mutants Linked to Catecholaminergic Polymorphic Ventricular Tachycardia Fail to Inhibit Human RyR2 Channels. ( 28662798 )
2017
16
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570361 )
2017
17
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. ( 28422759 )
2017
18
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. ( 28237968 )
2017
19
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. ( 27861184 )
2017
20
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
21
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
22
Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2. ( 28630169 )
2017
23
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. ( 28405885 )
2017
24
Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial. ( 28492868 )
2017
25
Catecholaminergic polymorphic ventricular tachycardia, an update. ( 29048771 )
2017
26
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. ( 28158428 )
2017
27
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. ( 28084961 )
2017
28
A focus on pharmacological management of catecholaminergic polymorphic ventricular tachycardia. ( 28685702 )
2017
29
Circadian Variation of Ventricular Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29759629 )
2017
30
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. ( 27988446 )
2017
31
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RYR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28789916 )
2017
32
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570362 )
2017
33
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. ( 27838126 )
2017
34
Clockwork and Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29759630 )
2017
35
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia. ( 29178653 )
2017
36
Viral delivered gene therapy to treat Catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. ( 28336343 )
2017
37
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. ( 28940060 )
2017
38
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics. ( 28605744 )
2017
39
Effects of Catheter Ablation Targeting the Trigger Beats in Inherited Catecholaminergic Polymorphic Ventricular Tachycardia. ( 29759714 )
2017
40
Percutaneous renal sympathetic denervation in catecholaminergic polymorphic ventricular tachycardia. ( 28607624 )
2017
41
An optogenetic arrhythmia model to study catecholaminergic polymorphic ventricular tachycardia mutations. ( 29235522 )
2017
42
Catecholaminergic Polymorphic Ventricular Tachycardia - Looking to the Future. ( 29610596 )
2017
43
The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27403293 )
2016
44
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutationsa88- Long-Term Prognosis After Initiation of Medical Treatment. ( 27452199 )
2016
45
Letter by PatanA" Regarding Article, &amp;quot;Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation&amp;quot;. ( 26811281 )
2016
46
Catecholaminergic polymorphic ventricular tachycardia associated with sinus node dysfunction and junctional rhythm: Case report and literature review. ( 27539163 )
2016
47
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 26948768 )
2016
48
Reply: Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases : Ibutilide as a Torsade de Pointes Stress Test. ( 27282904 )
2016
49
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. ( 27282903 )
2016
50
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. ( 27646203 )
2016

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6
(show top 50) (show all 1675)
# 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.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
8 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh38 Chromosome 1, 115768445: 115768445
9 RYR2 NM_001035.2(RYR2): c.12544G> C (p.Glu4182Gln) single nucleotide variant Likely pathogenic rs397516508 GRCh37 Chromosome 1, 237947556: 237947556
10 RYR2 NM_001035.2(RYR2): c.12544G> C (p.Glu4182Gln) single nucleotide variant Likely pathogenic rs397516508 GRCh38 Chromosome 1, 237784256: 237784256
11 RYR2 NM_001035.2(RYR2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516539 GRCh37 Chromosome 1, 237540665: 237540665
12 RYR2 NM_001035.2(RYR2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516539 GRCh38 Chromosome 1, 237377365: 237377365
13 CASQ2 NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs) indel Likely pathogenic rs397516643 GRCh37 Chromosome 1, 116275548: 116275550
14 CASQ2 NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs) indel Likely pathogenic rs397516643 GRCh38 Chromosome 1, 115732927: 115732929
15 TRDN NM_006073.3(TRDN): c.53_56delACAG (p.Asp18Alafs) deletion Pathogenic rs768049331 GRCh38 Chromosome 6, 123571099: 123571102
16 TRDN NM_006073.3(TRDN): c.53_56delACAG (p.Asp18Alafs) deletion Pathogenic rs768049331 GRCh37 Chromosome 6, 123892244: 123892247
17 RYR2 NM_001035.2(RYR2): c.6433G> C (p.Gly2145Arg) single nucleotide variant Uncertain significance rs587782974 GRCh37 Chromosome 1, 237791373: 237791373
18 RYR2 NM_001035.2(RYR2): c.6433G> C (p.Gly2145Arg) single nucleotide variant Uncertain significance rs587782974 GRCh38 Chromosome 1, 237628073: 237628073
19 RYR2 NM_001035.2(RYR2): c.3038G> A (p.Arg1013Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149514924 GRCh37 Chromosome 1, 237711862: 237711862
20 RYR2 NM_001035.2(RYR2): c.3038G> A (p.Arg1013Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149514924 GRCh38 Chromosome 1, 237548562: 237548562
21 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh37 Chromosome 1, 116283431: 116283431
22 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh38 Chromosome 1, 115740810: 115740810
23 CASQ2 NM_001232.3(CASQ2): c.270C> A (p.Gly90=) single nucleotide variant Conflicting interpretations of pathogenicity rs72554056 GRCh37 Chromosome 1, 116287498: 116287498
24 CASQ2 NM_001232.3(CASQ2): c.270C> A (p.Gly90=) single nucleotide variant Conflicting interpretations of pathogenicity rs72554056 GRCh38 Chromosome 1, 115744877: 115744877
25 CASQ2 NM_001232.3(CASQ2): c.177G> A (p.Pro59=) single nucleotide variant Likely benign rs371260149 GRCh37 Chromosome 1, 116310986: 116310986
26 CASQ2 NM_001232.3(CASQ2): c.177G> A (p.Pro59=) single nucleotide variant Likely benign rs371260149 GRCh38 Chromosome 1, 115768365: 115768365
27 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh37 Chromosome 1, 237550653: 237550653
28 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh38 Chromosome 1, 237387353: 237387353
29 RYR2 NM_001035.2(RYR2): c.1612+13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368200572 GRCh37 Chromosome 1, 237620048: 237620048
30 RYR2 NM_001035.2(RYR2): c.1612+13A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368200572 GRCh38 Chromosome 1, 237456748: 237456748
31 RYR2 NM_001035.2(RYR2): c.1939C> T (p.Arg647Cys) single nucleotide variant Uncertain significance rs202040519 GRCh37 Chromosome 1, 237656365: 237656365
32 RYR2 NM_001035.2(RYR2): c.1939C> T (p.Arg647Cys) single nucleotide variant Uncertain significance rs202040519 GRCh38 Chromosome 1, 237493065: 237493065
33 RYR2 NM_001035.2(RYR2): c.2562A> G (p.Thr854=) single nucleotide variant Likely benign rs727503398 GRCh37 Chromosome 1, 237666754: 237666754
34 RYR2 NM_001035.2(RYR2): c.2562A> G (p.Thr854=) single nucleotide variant Likely benign rs727503398 GRCh38 Chromosome 1, 237503454: 237503454
35 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh37 Chromosome 1, 237675024: 237675024
36 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh38 Chromosome 1, 237511724: 237511724
37 RYR2 NM_001035.2(RYR2): c.2935G> T (p.Ala979Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202015519 GRCh37 Chromosome 1, 237711759: 237711759
38 RYR2 NM_001035.2(RYR2): c.2935G> T (p.Ala979Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202015519 GRCh38 Chromosome 1, 237548459: 237548459
39 RYR2 NM_001035.2(RYR2): c.3225C> T (p.Ala1075=) single nucleotide variant Benign/Likely benign rs727505215 GRCh37 Chromosome 1, 237729877: 237729877
40 RYR2 NM_001035.2(RYR2): c.3225C> T (p.Ala1075=) single nucleotide variant Benign/Likely benign rs727505215 GRCh38 Chromosome 1, 237566577: 237566577
41 RYR2 NM_001035.2(RYR2): c.4209A> G (p.Ala1403=) single nucleotide variant Likely benign rs727505126 GRCh37 Chromosome 1, 237755087: 237755087
42 RYR2 NM_001035.2(RYR2): c.4209A> G (p.Ala1403=) single nucleotide variant Likely benign rs727505126 GRCh38 Chromosome 1, 237591787: 237591787
43 RYR2 NM_001035.2(RYR2): c.4347T> C (p.Asp1449=) single nucleotide variant Benign/Likely benign rs368930040 GRCh37 Chromosome 1, 237756847: 237756847
44 RYR2 NM_001035.2(RYR2): c.4347T> C (p.Asp1449=) single nucleotide variant Benign/Likely benign rs368930040 GRCh38 Chromosome 1, 237593547: 237593547
45 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh37 Chromosome 1, 237758826: 237758826
46 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh38 Chromosome 1, 237595526: 237595526
47 RYR2 NM_001035.2(RYR2): c.6320C> T (p.Thr2107Met) single nucleotide variant Uncertain significance rs370331492 GRCh37 Chromosome 1, 237791260: 237791260
48 RYR2 NM_001035.2(RYR2): c.6320C> T (p.Thr2107Met) single nucleotide variant Uncertain significance rs370331492 GRCh38 Chromosome 1, 237627960: 237627960
49 RYR2 NM_001035.2(RYR2): c.6689-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370972311 GRCh37 Chromosome 1, 237798177: 237798177
50 RYR2 NM_001035.2(RYR2): c.6689-12T> C single nucleotide variant Conflicting interpretations of pathogenicity rs370972311 GRCh38 Chromosome 1, 237634877: 237634877

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 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 ASPH CALM1 CALM2 CALM3 FKBP1B RYR1
2
Show member pathways
12.99 CALM1 CALM2 CALM3 KCNJ2 RYR1 RYR2
3
Show member pathways
12.65 CALM1 CALM2 CALM3 KCNJ2 RYR1 RYR2
4
Show member pathways
12.5 CALM1 CALM2 CALM3 RYR1
5
Show member pathways
12.45 CALM1 CALM2 CALM3 RYR1 RYR2
6
Show member pathways
12.29 CALM1 CALM2 CALM3 CALR CASQ2 RYR1
7 12.28 CALM1 CALM2 CALM3 KCNH2 KCNJ2
8
Show member pathways
12.25 CALM1 CALM2 CALM3 RYR2
9
Show member pathways
12.25 ASPH CALM1 CALM2 CALM3 FKBP1B RYR1
10
Show member pathways
12.14 CALM1 CALM2 CALM3 KCNJ2
11
Show member pathways
12.13 ASPH CALM1 CALM2 CALM3 FKBP1B KCNH2
12
Show member pathways
12.1 CALM1 CALM2 CALM3 RYR1 RYR2
13
Show member pathways
11.94 CALM1 CALM2 CALM3
14
Show member pathways
11.92 CALM1 CALM2 CALM3
15
Show member pathways
11.89 CALM1 CALM2 CALM3
16 11.88 CALM1 CALM2 CALM3
17 11.87 CALM1 CALM2 CALM3
18 11.86 CALM1 CALM2 CALM3 RYR1 RYR2
19 11.85 CALM1 CALM2 CALM3
20
Show member pathways
11.84 CALM1 CALM2 CALM3
21
Show member pathways
11.82 CALM1 CALM2 CALM3
22
Show member pathways
11.81 CALM1 CALM2 CALM3
23
Show member pathways
11.74 CALM1 CALM2 CALM3
24
Show member pathways
11.73 CALM1 CALM2 CALM3
25
Show member pathways
11.72 CALM1 CALM2 CALM3
26 11.72 CALM1 CALM2 CALM3
27 11.7 CALM1 CALM2 CALM3
28
Show member pathways
11.65 CALM1 CALM2 CALM3
29
Show member pathways
11.63 CALM1 CALM2 CALM3 SCN5A
30 11.61 CALM1 CALM2 CALM3
31
Show member pathways
11.59 CALM1 CALM2 CALM3
32 11.52 CALM1 CALM2 CALM3 KCNJ2
33 11.51 CALM1 CALM2 CALM3
34 11.34 CALM1 CALM2 CALM3
35 11.34 CALM1 CALM2 CALM3
36 11.32 CALM1 CALM2 CALM3
37 11.28 CALM1 CALM2 CALM3
38 11.25 ANK2 CASQ2 FKBP1B KCNH2 KCNJ2 RYR2
39 11.24 CALM1 CALM2 CALM3
40 11.21 CALM1 CALM2 CALM3
41 11.2 CALM1 CALM2 CALM3
42 11.19 CALM1 CALM2 CALM3
43 11.03 CALM1 CALM2 CALM3
44 10.95 CALM1 CALM2 CALM3
45 10.93 CALM1 CALM2 CALM3
46 10.79 RYR1 RYR2
47 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 17)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.95 CALM1 CALM2 CALM3 RYR1 RYR2
2 sarcolemma GO:0042383 9.81 ANK2 RYR1 RYR2 SCN5A
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 9.71 ANK2 KCNJ2 SCN5A
7 smooth endoplasmic reticulum GO:0005790 9.71 CALR KCNJ2 RYR1 RYR2
8 spindle microtubule GO:0005876 9.7 CALM1 CALM2 CALM3
9 catalytic complex GO:1902494 9.67 CALM1 CALM2 CALM3
10 junctional membrane complex GO:0030314 9.63 CASQ2 RYR1 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 sarcoplasmic reticulum lumen GO:0033018 9.61 CALR CASQ2 TRDN
14 A band GO:0031672 9.56 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

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.95 ASPH CALM1 RYR1 TRDN
2 cellular calcium ion homeostasis GO:0006874 9.95 ANK2 CALR RYR1 RYR2 TRDN
3 cardiac muscle contraction GO:0060048 9.89 CASQ2 KCNH2 MYBPC3 RYR2 SCN5A
4 response to calcium ion GO:0051592 9.87 CALM1 CALM2 CALM3
5 cardiac conduction GO:0061337 9.87 KCNH2 KCNJ2 SCN5A
6 regulation of heart rate by cardiac conduction GO:0086091 9.86 ANK2 KCNH2 KCNJ2 SCN5A
7 positive regulation of protein serine/threonine kinase activity GO:0071902 9.85 CALM1 CALM2 CALM3
8 substantia nigra development GO:0021762 9.85 CALM1 CALM2 CALM3
9 regulation of cytosolic calcium ion concentration GO:0051480 9.85 FKBP1B RYR1 RYR2
10 regulation of cardiac conduction GO:1903779 9.85 ASPH CASQ2 FKBP1B RYR1 RYR2 TRDN
11 regulation of cytokinesis GO:0032465 9.84 CALM1 CALM2 CALM3
12 release of sequestered calcium ion into cytosol GO:0051209 9.84 FKBP1B RYR1 RYR2
13 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.83 CALM1 CALM2 CALM3
14 positive regulation of protein autophosphorylation GO:0031954 9.81 CALM1 CALM2 CALM3
15 ventricular cardiac muscle cell action potential GO:0086005 9.81 ANK2 KCNH2 RYR2 SCN5A
16 positive regulation of protein dephosphorylation GO:0035307 9.8 CALM1 CALM2 CALM3
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 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.79 CALM1 CALM2 CALM3
20 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.79 CALM1 CALM2 CALM3
21 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.78 CALM1 CALM2 CALM3
22 regulation of membrane repolarization GO:0060306 9.77 CASQ2 KCNH2 KCNJ2
23 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.77 ANK2 CASQ2 TRDN
24 regulation of cardiac muscle cell contraction GO:0086004 9.76 ANK2 KCNJ2 SCN5A
25 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.76 CALM1 CALM2 CALM3 TRDN
26 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.75 CALM1 CALM2 CALM3
27 cellular response to caffeine GO:0071313 9.74 CASQ2 RYR1 RYR2
28 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.73 FKBP1B RYR1 RYR2 TRDN
29 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.73 CALM1 CALM2 CALM3 CASQ2 FKBP1B TRDN
30 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.72 CALM1 FKBP1B
31 cardiac muscle cell action potential involved in contraction GO:0086002 9.72 KCNJ2 SCN5A
32 positive regulation of potassium ion transmembrane transport GO:1901381 9.72 KCNH2 KCNJ2
33 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.72 FKBP1B RYR2
34 detection of calcium ion GO:0005513 9.72 CALM1 CALM2 CALM3 CASQ2 RYR2
35 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.71 KCNJ2 SCN5A
36 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNH2 KCNJ2
37 response to redox state GO:0051775 9.71 FKBP1B RYR2
38 atrial cardiac muscle cell action potential GO:0086014 9.71 ANK2 SCN5A
39 protein maturation by protein folding GO:0022417 9.71 CALR FKBP1B
40 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.71 CALM1 CALM2 CALM3
41 response to caffeine GO:0031000 9.7 RYR1 RYR2
42 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.7 ANK2 RYR2
43 membrane repolarization during action potential GO:0086011 9.7 KCNH2 KCNJ2
44 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.7 CALM1 CALM2 CALM3
45 SA node cell action potential GO:0086015 9.69 ANK2 SCN5A
46 membrane depolarization during SA node cell action potential GO:0086046 9.69 ANK2 SCN5A
47 sarcoplasmic reticulum calcium ion transport GO:0070296 9.68 ANK2 RYR2
48 regulation of cell communication by electrical coupling GO:0010649 9.68 CASQ2 TRDN
49 sequestering of calcium ion GO:0051208 9.67 CALR CASQ2
50 regulation of atrial cardiac muscle cell action potential GO:0098910 9.66 ANK2 RYR2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.97 ASPH CALM1 CALM2 CALM3 CALR CASQ2
2 protein kinase binding GO:0019901 9.93 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A
3 protein domain specific binding GO:0019904 9.86 CALM1 CALM2 CALM3 SCN5A
4 ion channel activity GO:0005216 9.81 KCNH2 RYR1 RYR2 SCN5A
5 disordered domain specific binding GO:0097718 9.67 CALM1 CALM2 CALM3
6 protein serine/threonine kinase activator activity GO:0043539 9.65 CALM1 CALM2 CALM3
7 adenylate cyclase binding GO:0008179 9.61 CALM1 CALM2 CALM3
8 calcium channel inhibitor activity GO:0019855 9.58 CALM1 CALM2 FKBP1B
9 calcium-release channel activity GO:0015278 9.55 RYR1 RYR2
10 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.54 KCNH2 KCNJ2
11 calcium-induced calcium release activity GO:0048763 9.52 RYR1 RYR2
12 protein phosphatase activator activity GO:0072542 9.5 CALM1 CALM2 CALM3
13 ryanodine-sensitive calcium-release channel activity GO:0005219 9.43 FKBP1B RYR1 RYR2
14 N-terminal myristoylation domain binding GO:0031997 9.33 CALM1 CALM2 CALM3
15 titin binding GO:0031432 9.26 CALM1 CALM2 CALM3 MYBPC3
16 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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