MCID: CTC001
MIFTS: 61

Catecholaminergic Polymorphic Ventricular Tachycardia

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards integrated aliases for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 12 23 49 24 55 36 28 14 37
Cpvt 23 49 24 55
Catecholamine-Induced Polymorphic Ventricular Tachycardia 23 49 24
Bidirectional Tachycardia Induced by Catecholamine 49 55
Stress-Induced Polymorphic Ventricular Tachycardia 49 69
Double Tachycardia Induced by Catecholamines 49 55
Familial Polymorphic Ventricular Tachycardia 49 24
Malignant Paroxysmal Ventricular Tachycardia 49 55
Multifocal Ventricular Premature Beats 49 55
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Ventricular Tachycardia, Catecholaminergic Polymorphic 51
Bidirectional Tachycardia Induced by Catecholamines 24
Polymorphic Catecholergic Ventricular Tachycardia 49
Multifocal Premature Ventricular Beats 69
Familial Ventricular Tachycardia 69
Syncopal Paroxysmal Tachycardia 49
Multifocal Pvcs 69
Fpvt 24

Characteristics:

Orphanet epidemiological data:

55
catecholaminergic polymorphic ventricular tachycardia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age;

GeneReviews:

23
Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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 32 I47.2
Orphanet 55 ORPHA3286
UMLS via Orphanet 70 C1631597
ICD10 via Orphanet 33 I47.2
KEGG 36 H01019

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

NIH Rare Diseases : 49 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.  Last updated: 1/25/2013

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 syncope, sudden cardiac death and vertigo. 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 Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 : 24 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 : 72 Catecholaminergic polymorphic ventricular tachycardia (CPVT), also called familial polymorphic... 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 62)
# 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 32.1 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
3 cardiac conduction defect 30.2 KCNH2 RYR1 RYR2 SCN5A
4 syncope 29.8 CALM1 KCNH2 KCNJ2 KCNQ1 SCN5A
5 malignant hyperthermia 29.7 ASPH CALR CASQ1 RYR1 RYR2
6 left ventricular noncompaction 29.5 FKBP1B KCNQ1 RYR2 SCN5A
7 ventricular fibrillation, paroxysmal familial, 1 29.2 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
8 andersen cardiodysrhythmic periodic paralysis 29.1 KCNE2 KCNJ2 KCNQ1 RYR2 SCN5A
9 cardiac arrest 29.0 CALM1 CALM3 CASQ2 KCNQ1 RYR2 SCN5A
10 brugada syndrome 28.9 ANK2 CALM2 KCNE2 KCNH2 KCNQ1 SCN5A
11 short qt syndrome 28.6 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
12 atrial fibrillation 28.6 ANK2 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
13 long qt syndrome 28.1 ANK2 CALM1 CALM2 CALM3 KCNE2 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 11.5
18 cardiac arrhythmia, ankyrin-b-related 11.3
19 arrhythmogenic right ventricular dysplasia, familial, 2 10.4 CASQ2 RYR1 RYR2
20 acute dacryocystitis 10.3 CALM1 CALM2 CALM3
21 external ear disease 10.3 CALM1 CALM2 CALM3
22 otitis externa 10.3 CALM1 CALM2 CALM3
23 deafness, autosomal recessive 44 10.3 CALM1 CALM2 CALM3
24 otomycosis 10.3 CALM1 CALM2 CALM3
25 spontaneous ocular nystagmus 10.3 CALM1 CALM2 CALM3
26 sporotrichosis 10.3 CALM1 CALM2 CALM3
27 dystonia 24 10.3 CALM1 CALM2 CALM3
28 triosephosphate isomerase deficiency 10.2 CALM1 CALM2 CALM3
29 leber congenital amaurosis 2 10.2 CALM1 CALM2 CALM3
30 primary systemic mycosis 10.2 CALM1 CALM2 CALM3
31 cardiomyopathy, dilated, 1a 10.2 CALM1 CALM2 CALM3
32 clear cell acanthoma 10.2 CALM1 CALM2 CALM3
33 aural atresia, congenital 10.2
34 cardiomyopathy, dilated, 1p 10.2 CALM1 CALM2 CALM3
35 long qt syndrome 14 10.1 ANK2 CALM1
36 primary cutaneous amyloidosis 10.1 CALM1 CALM2 CALM3
37 long qt syndrome 15 10.0 CALM1 CALM2 CALM3 CD2AP
38 aging 10.0
39 arrhythmogenic right ventricular cardiomyopathy 10.0
40 epilepsy 10.0
41 familial short qt syndrome 10.0 KCNH2 KCNJ2 KCNQ1
42 myopathy, tubular aggregate, 1 10.0 CALR CASQ1 RYR1 TRDN
43 deafness, autosomal dominant 2a 9.9 CALM1 CALM2 CALM3 KCNQ1
44 cardiac conduction disease with or without dilated cardiomyopathy 9.8 KCNH2 KCNQ1 SCN5A
45 long qt syndrome 13 9.8 KCNH2 KCNQ1 SCN5A
46 sudden infant death syndrome 9.4 KCNH2 KCNQ1 RYR2 SCN5A
47 heart conduction disease 9.4 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
48 third-degree atrioventricular block 9.4 KCNE2 SCN5A
49 long qt syndrome 12 9.2 KCNE2 KCNH2 KCNQ1 SCN5A
50 jervell and lange-nielsen syndrome 1 9.2 KCNE2 KCNH2 KCNQ1 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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 55 31 occasional (7.5%) Occasional (29-5%) HP:0001279
2 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
3 vertigo 55 31 frequent (33%) Frequent (79-30%) HP:0002321
4 ventricular tachycardia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004756

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


syncope, seizures

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.5 KCNE2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 KCNE2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.5 ANK2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.5 ANK2 ASPH KCNE2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 ASPH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.5 ANK2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.5 ANK2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 ASPH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.5 ANK2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.5 KCNE2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.5 KCNE2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.5 ASPH
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 ANK2

MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 SCN5A ASPH ATP2A2 CALR CASQ2 CD2AP
2 growth/size/body region MP:0005378 10 ASPH ATP2A2 CALR CASQ1 CASQ2 CD2AP
3 homeostasis/metabolism MP:0005376 9.77 ASPH ATP2A2 CALR CASQ1 CASQ2 CD2AP
4 muscle MP:0005369 9.44 ASPH ATP2A2 CALR CASQ1 CASQ2 FKBP1B

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 29122-68-7 2249
2
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
3
Nadolol Approved 42200-33-9 39147
4
Propranolol Approved, Investigational 525-66-6 4946
5
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
6 Adrenergic Agents
7 Adrenergic Antagonists
8 Adrenergic beta-Antagonists
9 Anti-Arrhythmia Agents
10 Diuretics, Potassium Sparing
11 Neurotransmitter Agents
12 Sodium Channel Blockers
13 Adjuvants, Anesthesia
14 Anesthetics
15 Anti-Asthmatic Agents
16 Autonomic Agents
17 Bronchodilator Agents
18 Cholinergic Agents
19 Cholinergic Antagonists
20 Muscarinic Antagonists
21 Mydriatics
22 Parasympatholytics
23 Peripheral Nervous System Agents
24 Respiratory System Agents

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 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 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 28

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

38
Heart, Testes

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 271)
# Title Authors Year
1
Bradycardia is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations. ( 29434162 )
2018
2
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
3
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
4
Tetracaine derivatives for catecholaminergic polymorphic ventricular tachycardia: New drugs for correction of diastolic Ca<sup>2+</sup>leak? ( 29410362 )
2018
5
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. ( 27838126 )
2017
6
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RYR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28789916 )
2017
7
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
8
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. ( 28084961 )
2017
9
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. ( 28940060 )
2017
10
Catecholaminergic polymorphic ventricular tachycardia, an update. ( 29048771 )
2017
11
Calmodulin Mutants Linked to Catecholaminergic Polymorphic Ventricular Tachycardia Fail to Inhibit Human RyR2 Channels. ( 28662798 )
2017
12
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics. ( 28605744 )
2017
13
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. ( 27861184 )
2017
14
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. ( 28422759 )
2017
15
An optogenetic arrhythmia model to study catecholaminergic polymorphic ventricular tachycardia mutations. ( 29235522 )
2017
16
Percutaneous renal sympathetic denervation in catecholaminergic polymorphic ventricular tachycardia. ( 28607624 )
2017
17
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. ( 28405885 )
2017
18
Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2. ( 28630169 )
2017
19
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. ( 27988446 )
2017
20
A focus on pharmacological management of catecholaminergic polymorphic ventricular tachycardia. ( 28685702 )
2017
21
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570361 )
2017
22
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. ( 28158428 )
2017
23
Different responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. ( 29309601 )
2017
24
Viral delivered gene therapy to treat Catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. ( 28336343 )
2017
25
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570362 )
2017
26
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardia. ( 29178653 )
2017
27
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. ( 28237968 )
2017
28
Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial. ( 28492868 )
2017
29
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. ( 27282903 )
2016
30
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27180891 )
2016
31
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27909533 )
2016
32
Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". ( 26811283 )
2016
33
Integration of 60 000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia associated variants. ( 27538377 )
2016
34
Letter by PatanA" Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". ( 26811281 )
2016
35
Catecholaminergic polymorphic ventricular tachycardia associated with sinus node dysfunction and junctional rhythm: Case report and literature review. ( 27539163 )
2016
36
Patient-Specific Human Induced Pluripotent Stem Cell Model Assessed with Electrical Pacing Validates S107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27764147 )
2016
37
Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children. ( 27256466 )
2016
38
Questioning flecainide's mechanism of action in the treatment of catecholaminergic polymorphic ventricular tachycardia. ( 27800620 )
2016
39
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutationsa88- Long-Term Prognosis After Initiation of Medical Treatment. ( 27452199 )
2016
40
Catecholaminergic polymorphic ventricular tachycardia: An exciting new era. ( 27212848 )
2016
41
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor? ( 27840378 )
2016
42
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. ( 27523319 )
2016
43
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 26948768 )
2016
44
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor?a88- Reply. ( 27840380 )
2016
45
Teenage pregnancy with catecholaminergic polymorphic ventricular tachycardia and documented ICD discharges. ( 27099728 )
2016
46
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? ( 27659101 )
2016
47
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 26920200 )
2016
48
A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses. ( 27491078 )
2016
49
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. ( 27646203 )
2016
50
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. ( 27711080 )
2016

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6 (show all 21)
# 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.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
3 RYR2 NM_001035.2(RYR2): c.12544G> C (p.Glu4182Gln) single nucleotide variant Likely pathogenic rs397516508 GRCh37 Chromosome 1, 237947556: 237947556
4 RYR2 NM_001035.2(RYR2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516539 GRCh37 Chromosome 1, 237540665: 237540665
5 CASQ2 NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs) indel Likely pathogenic rs397516643 GRCh37 Chromosome 1, 116275548: 116275550
6 CASQ2 NM_001232.3(CASQ2): c.923C> T (p.Pro308Leu) single nucleotide variant Pathogenic rs139228801 GRCh37 Chromosome 1, 116247829: 116247829
7 RYR2 NM_001035.2(RYR2): c.527G> A (p.Arg176Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794728708 GRCh37 Chromosome 1, 237540686: 237540686
8 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
9 RYR2 NM_001035.2(RYR2): c.6916G> A (p.Val2306Ile) single nucleotide variant Pathogenic rs794728746 GRCh38 Chromosome 1, 237638480: 237638480
10 RYR2 NM_001035.2(RYR2): c.7159G> A (p.Ala2387Thr) single nucleotide variant Likely pathogenic rs794728753 GRCh38 Chromosome 1, 237640940: 237640940
11 RYR2 NM_001035.2(RYR2): c.11836G> A (p.Gly3946Ser) single nucleotide variant Pathogenic rs794728777 GRCh37 Chromosome 1, 237942026: 237942026
12 RYR2 NM_001035.2(RYR2): c.14311G> A (p.Val4771Ile) single nucleotide variant Pathogenic/Likely pathogenic rs794728804 GRCh38 Chromosome 1, 237808913: 237808913
13 RYR2 NM_001035.2(RYR2): c.(?_169)_(273_?)del (p.(?)) deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 237330878: 237330982
14 CASQ2 NM_001232.3(CASQ2): c.940-1G> T single nucleotide variant Likely pathogenic rs876657635 GRCh38 Chromosome 1, 115702996: 115702996
15 CASQ2 NM_001232.3(CASQ2): c.235-2A> G single nucleotide variant Likely pathogenic rs1060502164 GRCh38 Chromosome 1, 115744914: 115744914
16 TRDN NM_006073.3(TRDN): c.618delG (p.Ala208Leufs) deletion Pathogenic rs1060502114 GRCh37 Chromosome 6, 123825039: 123825039
17 TRDN NM_006073.3(TRDN): c.1051+1G> A single nucleotide variant Likely pathogenic rs535908547 GRCh38 Chromosome 6, 123438062: 123438062
18 RYR2 NM_001035.2(RYR2): c.1198G> A (p.Asp400Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 237445428: 237445428
19 RYR2 NM_001035.2(RYR2): c.567A> T (p.Glu189Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 237540726: 237540726
20 RYR2 NM_001035.2(RYR2): c.14251A> G (p.Lys4751Glu) single nucleotide variant Likely pathogenic rs794728802 GRCh38 Chromosome 1, 237806236: 237806236
21 TRDN NM_006073.3(TRDN): c.232+2T> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 123570921: 123570921

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:

36
# 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 top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
2
Show member pathways
13.08 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
3
Show member pathways
13.01 CALM1 CALM2 CALM3 KCNH2 KCNJ2 KCNQ1
4
Show member pathways
12.71 ATP2A2 CALM1 CALM2 CALM3 KCNQ1 RYR2
5
Show member pathways
12.69 CALM1 CALM2 CALM3 KCNJ2 KCNQ1 RYR1
6
Show member pathways
12.64 ATP2A2 CALM1 CALM2 CALM3 KCNJ2 RYR1
7
Show member pathways
12.53 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
8
Show member pathways
12.49 CALM1 CALM2 CALM3 RYR1 RYR2
9
Show member pathways
12.41 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
10
Show member pathways
12.38 ATP2A2 CALM1 CALM2 CALM3
11
Show member pathways
12.3 ATP2A2 CALM1 CALM2 CALM3 CALR CASQ1
12
Show member pathways
12.28 ATP2A2 CALM1 CALM2 CALM3 RYR2
13 12.28 ATP2A2 CALM1 CALM2 CALM3 KCNE2 KCNH2
14
Show member pathways
12.24 ATP2A2 CALM1 CALM2 CALM3
15
Show member pathways
12.18 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
16 12.17 KCNH2 KCNQ1 RYR2 SCN5A
17
Show member pathways
12.1 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
18 12.05 ATP2A2 CALM1 CALR RYR1
19 12.04 CALM1 CALM2 CALM3 RYR1 RYR2
20
Show member pathways
11.92 CALM1 CALM2 CALM3
21 11.9 CALM1 CALM2 CALM3
22 11.9 CALM1 CALM2 CALM3
23
Show member pathways
11.87 CALM1 CALM2 CALM3
24 11.87 ATP2A2 KCNQ1 RYR2
25
Show member pathways
11.86 CALM1 CALM2 CALM3 CD2AP
26
Show member pathways
11.84 CALM1 CALM2 CALM3
27
Show member pathways
11.84 CALM1 CALM2 CALM3
28
Show member pathways
11.77 CALM1 CALM2 CALM3
29
Show member pathways
11.76 CALM1 CALM2 CALM3
30
Show member pathways
11.74 CALM1 CALM2 CALM3
31 11.74 CALM1 CALM2 CALM3
32 11.73 CALM1 CALM2 CALM3
33
Show member pathways
11.72 CALM1 CALM2 CALM3 KCNE2 KCNQ1 SCN5A
34
Show member pathways
11.68 CALM1 CALM2 CALM3
35 11.65 CALM1 CALM2 CALM3 KCNJ2
36 11.64 CALM1 CALM2 CALM3
37
Show member pathways
11.63 CALM1 CALM2 CALM3
38 11.55 CALM1 CALM2 CALM3
39 11.38 CALM1 CALM2 CALM3
40 11.38 CALM1 CALM2 CALM3
41 11.36 CALM1 CALM2 CALM3
42 11.34 ATP2A2 CALM1 CALM2
43 11.32 CALM1 CALM2 CALM3
44 11.28 CALM1 CALM2 CALM3
45 11.25 CALM1 CALM2 CALM3
46 11.24 CALM1 CALM2 CALM3
47 11.24 CALM1 CALM2 CALM3
48 11.11 ANK2 ATP2A2 CASQ1 CASQ2 FKBP1B KCNE2
49 11.1 CALM1 CALM2 CALM3
50 11.02 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 19)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.88 ANK2 CASQ2 FKBP1B RYR2 SCN5A
2 voltage-gated potassium channel complex GO:0008076 9.84 KCNE2 KCNH2 KCNJ2 KCNQ1
3 sarcomere GO:0030017 9.81 CALM1 CALM2 CALM3 RYR2
4 T-tubule GO:0030315 9.8 ANK2 CASQ1 KCNJ2 RYR1 SCN5A
5 sarcolemma GO:0042383 9.76 ANK2 CASQ1 SCN5A
6 intercalated disc GO:0014704 9.75 ANK2 KCNJ2 SCN5A
7 spindle microtubule GO:0005876 9.74 CALM1 CALM2 CALM3
8 catalytic complex GO:1902494 9.67 CALM1 CALM2 CALM3
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 CASQ2 RYR1 RYR2 TRDN
10 smooth endoplasmic reticulum GO:0005790 9.65 CALR CASQ1 KCNJ2 RYR1 RYR2
11 junctional membrane complex GO:0030314 9.63 CASQ2 RYR1 TRDN
12 calcium channel complex GO:0034704 9.63 CALM1 CALM2 CALM3 CASQ2 FKBP1B RYR2
13 sarcoplasmic reticulum lumen GO:0033018 9.62 CALR CASQ1 CASQ2 TRDN
14 sarcoplasmic reticulum GO:0016529 9.61 ASPH ATP2A2 CALR CASQ1 CASQ2 FKBP1B
15 terminal cisterna GO:0014802 9.56 CASQ1 RYR1
16 sarcoplasmic reticulum membrane GO:0033017 9.23 ASPH ATP2A2 CASQ1 CASQ2 FKBP1B RYR1
17 plasma membrane GO:0005886 10.39 ANK2 ASPH CALM1 CALM2 CALM3 CD2AP
18 endoplasmic reticulum GO:0005783 10.18 ASPH ATP2A2 CALR CASQ1 KCNE2 KCNQ1
19 protein complex GO:0043234 10.03 ATP2A2 CALM1 CALM2 CALM3 CALR CD2AP

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

(show top 50) (show all 78)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.99 ASPH CALM1 RYR1 TRDN
2 cardiac conduction GO:0061337 9.97 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
3 cardiac muscle contraction GO:0060048 9.97 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
4 response to organic substance GO:0010033 9.93 CALR CASQ1 FKBP1B
5 regulation of heart rate by cardiac conduction GO:0086091 9.93 ANK2 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 cellular response to drug GO:0035690 9.91 KCNE2 KCNH2 KCNQ1
7 response to calcium ion GO:0051592 9.91 CALM1 CALM2 CALM3
8 regulation of cardiac muscle contraction GO:0055117 9.91 ANK2 CALM1 CALM2 CALM3 RYR2
9 positive regulation of cAMP biosynthetic process GO:0030819 9.9 CALM1 CALM2 CALM3
10 positive regulation of protein serine/threonine kinase activity GO:0071902 9.89 CALM1 CALM2 CALM3
11 substantia nigra development GO:0021762 9.89 CALM1 CALM2 CALM3
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.89 ANK2 KCNE2 KCNH2 KCNQ1 SCN5A
13 release of sequestered calcium ion into cytosol GO:0051209 9.88 FKBP1B RYR1 RYR2
14 regulation of cytosolic calcium ion concentration GO:0051480 9.88 FKBP1B RYR1 RYR2
15 detection of calcium ion GO:0005513 9.88 CALM1 CALM2 CALM3 CASQ2 RYR2
16 ventricular cardiac muscle cell action potential GO:0086005 9.88 ANK2 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
17 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM1 CALM2 CALM3
18 regulation of cytokinesis GO:0032465 9.87 CALM1 CALM2 CALM3
19 regulation of cardiac conduction GO:1903779 9.86 ASPH ATP2A2 CASQ1 CASQ2 FKBP1B RYR1
20 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM1 CALM2 CALM3
21 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
22 positive regulation of heart rate GO:0010460 9.85 ATP2A2 KCNQ1 RYR2
23 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 KCNE2 KCNJ2 SCN5A
24 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.85 CALM1 CALM2 CALM3 TRDN
25 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.85 CALM1 CALM2 CALM3 CASQ2 FKBP1B TRDN
26 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.84 CALM1 CALM2 CALM3
27 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.84 CALM1 CALM2 CALM3
28 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.84 FKBP1B RYR1 RYR2 TRDN
29 positive regulation of potassium ion transmembrane transport GO:1901381 9.83 KCNH2 KCNJ2 KCNQ1
30 regulation of cardiac muscle cell contraction GO:0086004 9.83 ANK2 KCNJ2 SCN5A
31 membrane repolarization GO:0086009 9.83 KCNE2 KCNH2 KCNQ1
32 membrane repolarization during action potential GO:0086011 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1
33 regulation of membrane repolarization GO:0060306 9.83 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
34 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCNH2 KCNJ2 KCNQ1
35 atrial cardiac muscle cell action potential GO:0086014 9.82 ANK2 KCNQ1 SCN5A
36 potassium ion export GO:0071435 9.81 KCNE2 KCNH2 KCNQ1
37 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.81 CALM1 CALM2 CALM3
38 cellular response to caffeine GO:0071313 9.8 CASQ2 RYR1 RYR2
39 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.8 ANK2 ATP2A2 RYR2
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.79 KCNE2 KCNH2 KCNQ1
41 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.78 CALM1 CALM2 CALM3
42 sarcoplasmic reticulum calcium ion transport GO:0070296 9.77 ANK2 ATP2A2 RYR2
43 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.76 CALM1 CALM2 CALM3
44 regulation of heart rate GO:0002027 9.76 ANK2 CALM1 CALM2 CALM3 CASQ2 FKBP1B
45 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.75 CALM1 FKBP1B
46 regulation of potassium ion transmembrane transport GO:1901379 9.75 KCNE2 KCNH2
47 cellular response to epinephrine stimulus GO:0071872 9.75 KCNQ1 RYR2
48 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 FKBP1B RYR2
49 protein polymerization GO:0051258 9.75 CASQ1 CASQ2
50 response to caffeine GO:0031000 9.75 RYR1 RYR2

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.99 ANK2 ATP2A2 RYR1 RYR2 SCN5A
2 protein domain specific binding GO:0019904 9.93 CALM1 CALM2 CALM3 SCN5A
3 calmodulin binding GO:0005516 9.91 KCNQ1 RYR1 RYR2 SCN5A
4 ion channel activity GO:0005216 9.87 KCNH2 RYR1 RYR2 SCN5A
5 voltage-gated ion channel activity GO:0005244 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 potassium channel activity GO:0005267 9.79 KCNE2 KCNH2 KCNQ1
7 voltage-gated potassium channel activity GO:0005249 9.79 KCNE2 KCNH2 KCNQ1
8 scaffold protein binding GO:0097110 9.77 KCNH2 KCNQ1 SCN5A
9 disordered domain specific binding GO:0097718 9.73 CALM1 CALM2 CALM3
10 protein serine/threonine kinase activator activity GO:0043539 9.72 CALM1 CALM2 CALM3
11 delayed rectifier potassium channel activity GO:0005251 9.7 KCNE2 KCNH2 KCNQ1
12 inward rectifier potassium channel activity GO:0005242 9.69 KCNE2 KCNH2 KCNJ2
13 titin binding GO:0031432 9.67 CALM1 CALM2 CALM3
14 adenylate cyclase binding GO:0008179 9.65 CALM1 CALM2 CALM3
15 calcium ion binding GO:0005509 9.65 ASPH ATP2A2 CALM1 CALM2 CALM3 CALR
16 protein kinase A catalytic subunit binding GO:0034236 9.63 KCNQ1 RYR2
17 calcium channel inhibitor activity GO:0019855 9.63 CALM1 CALM2 FKBP1B
18 calcium-release channel activity GO:0015278 9.62 RYR1 RYR2
19 calcium-induced calcium release activity GO:0048763 9.58 RYR1 RYR2
20 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.58 KCNE2 KCNH2 KCNQ1
21 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.54 KCNH2 KCNJ2 KCNQ1
22 protein phosphatase activator activity GO:0072542 9.5 CALM1 CALM2 CALM3
23 ryanodine-sensitive calcium-release channel activity GO:0005219 9.43 FKBP1B RYR1 RYR2
24 N-terminal myristoylation domain binding GO:0031997 9.33 CALM1 CALM2 CALM3
25 ion channel binding GO:0044325 9.32 ANK2 CALM1 CALM2 CALM3 FKBP1B KCNE2
26 protein binding GO:0005515 10.53 ANK2 ASPH ATP2A2 CALM1 CALM2 CALM3
27 protein kinase binding GO:0019901 10.01 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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