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 50 24 25 56 29 14 38
Catecholamine-Induced Polymorphic Ventricular Tachycardia 23 50 24 25
Cpvt 23 50 25 56
Familial Polymorphic Ventricular Tachycardia 50 24 25
Bidirectional Tachycardia Induced by Catecholamine 50 56
Stress-Induced Polymorphic Ventricular Tachycardia 50 69
Double Tachycardia Induced by Catecholamines 50 56
Malignant Paroxysmal Ventricular Tachycardia 50 56
Multifocal Ventricular Premature Beats 50 56
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Ventricular Tachycardia, Catecholaminergic Polymorphic 52
Bidirectional Tachycardia Induced by Catecholamines 25
Polymorphic Catecholergic Ventricular Tachycardia 50
Ventricular Tachycardia, Familial Polymorphic 52
Multifocal Premature Ventricular Beats 69
Familial Ventricular Tachycardia 69
Syncopal Paroxysmal Tachycardia 50
Multifocal Pvcs 69
Fpvt 25

Characteristics:

Orphanet epidemiological data:

56
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Penetrance The mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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 33 I47.2
Orphanet 56 ORPHA3286
UMLS via Orphanet 70 C1631597
ICD10 via Orphanet 34 I47.2

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

NIH Rare Diseases : 50 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 catecholamine-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 and catecholaminergic polymorphic ventricular tachycardia 5, and has symptoms including syncope, sudden cardiac death and vertigo. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is TRDN (Triadin), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and DAG and IP3 signaling. 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 cardiovascular system

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

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

(show top 50) (show all 76)
id Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1 30.8 ANK2 CASQ2 FKBP1B KCNH2 KCNJ2 KCNQ1
2 catecholaminergic polymorphic ventricular tachycardia 5 12.5
3 calm1-related catecholaminergic polymorphic ventricular tachycardia 12.2
4 casq2-related catecholaminergic polymorphic ventricular tachycardia 12.2
5 ryr2-related catecholaminergic polymorphic ventricular tachycardia 12.2
6 trdn-related catecholaminergic polymorphic ventricular tachycardia 12.2
7 ventricular tachycardia, catecholaminergic polymorphic, 3 11.9
8 ventricular tachycardia, catecholaminergic polymorphic, 2 11.8
9 ventricular tachycardia, catecholaminergic polymorphic, 4 11.8
10 ventricular tachycardia, idiopathic 11.2
11 cardiac arrhythmia, ankyrin-b-related 11.2
12 arrhythmogenic right ventricular dysplasia 2 10.6 CASQ2 RYR1 RYR2
13 subclavian steal syndrome 10.5 CALM1 CALM2 CALM3
14 long qt syndrome 10.5
15 epidural spinal canal meningioma 10.5 CALM1 CALM2 CALM3
16 heterotaxy, visceral, 8, autosomal 10.5 CALM1 CALM2 CALM3
17 pseudohypoaldosteronism, type iic 10.5 CALM1 CALM2 CALM3
18 mononeuritis of lower limb 10.5 CALM1 CALM2 CALM3
19 pontiac fever 10.4 CALM1 CALM2 CALM3
20 regular astigmatism 10.4 CALM1 CALM2 CALM3
21 dumping syndrome 10.4 CALM1 CALM2 CALM3
22 bulimia nervosa, age of onset of weight loss in 10.4 CALM1 CALM2 CALM3
23 leber congenital amaurosis 2 10.4 CALM1 CALM2 CALM3
24 alkhurma hemorrhagic fever 10.4 CALM1 CALM2 CALM3
25 cardiomyopathy, dilated, 1a 10.4 CALM1 CALM2 CALM3
26 syncope 10.4
27 cardiomyopathy, hypertrophic, 18 10.4 CALM1 CALM2 CALM3
28 partial of retinal vein occlusion 10.3 CALM1 CALM2 CALM3
29 plantar fasciitis 10.3 CALM1 CALM2 CALM3
30 cardiac arrest 10.3
31 brugada syndrome 10.3
32 lymphocytic choriomeningitis 10.3 CALM1 CALM2 CALM3
33 atrial fibrillation 10.3
34 hypochromic microcytic anemia 10.2 CALM1 CALM2 CALM3
35 oropharynx cancer 10.2 CASQ1 RYR1 RYR2
36 bleeding disorder, platelet-type, 15 10.2 ANK2 CALM1
37 acute poisoning by drugs with membrane-stabilizing effect 10.1 KCNH2 KCNJ2 KCNQ1
38 cardiomyopathy 10.1
39 sudden cardiac death 10.1
40 long qt syndrome 15 10.1 CALM1 CALM2 CALM3 CD2AP
41 stormorken syndrome 10.1 CALR CASQ1 RYR1 TRDN
42 epilepsy, familial temporal lobe, 3 10.0 KCNJ2 TECRL
43 left ventricular noncompaction 9.9
44 epilepsy 9.9
45 malignant hyperthermia 9.9
46 arrhythmogenic right ventricular cardiomyopathy 9.9
47 short qt syndrome 9.9
48 deafness, autosomal dominant 2a 9.9 CALM1 CALM2 CALM3 KCNQ1
49 cardiac conduction disease with or without dilated cardiomyopathy 9.8 KCNH2 KCNQ1 SCN5A
50 hyperaldosteronism, familial, type iii 9.8 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:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope 56 32 occasional (7.5%) Occasional (29-5%) HP:0001279
2 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
3 vertigo 56 32 frequent (33%) Frequent (79-30%) HP:0002321
4 ventricular tachycardia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004756

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures, syncope

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 KCNH2 KCNJ2 KCNQ1 RYR1 RYR2 SCN5A
2 growth/size/body region MP:0005378 10 ASPH ATP2A2 CALR CASQ1 CASQ2 CD2AP
3 homeostasis/metabolism MP:0005376 9.77 KCNJ2 KCNQ1 RYR1 RYR2 ASPH ATP2A2
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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved 29122-68-7 2249
2
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 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:


id 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 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
5 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Not yet recruiting NCT02927223 Atropine

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia 29 24 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

39
Heart, Testes

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50) (show all 263)
id Title Authors Year
1
Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial. ( 28492868 )
2017
2
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. ( 27838126 )
2017
3
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. ( 28237968 )
2017
4
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. ( 27988446 )
2017
5
Viral delivered gene therapy to treat Catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. ( 28336343 )
2017
6
Calmodulin Mutants Linked to Catecholaminergic Polymorphic Ventricular Tachycardia Fail to Inhibit Human RyR2 Channels. ( 28662798 )
2017
7
Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. ( 28940060 )
2017
8
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. ( 28084961 )
2017
9
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics. ( 28605744 )
2017
10
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. ( 28158428 )
2017
11
A focus on pharmacological management of catecholaminergic polymorphic ventricular tachycardia. ( 28685702 )
2017
12
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. ( 27861184 )
2017
13
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
14
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. ( 28422759 )
2017
15
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570361 )
2017
16
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28570362 )
2017
17
Percutaneous renal sympathetic denervation in catecholaminergic polymorphic ventricular tachycardia. ( 28607624 )
2017
18
Flecainide Reduces Ventricular Arrhythmias in Patients With Genotype RYR2-positive Catecholaminergic Polymorphic Ventricular Tachycardia. ( 28789916 )
2017
19
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. ( 28405885 )
2017
20
Patient-Specific Drug Screening Using a Human Induced Pluripotent Stem Cell Model of Catecholaminergic Polymorphic Ventricular Tachycardia Type 2. ( 28630169 )
2017
21
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. ( 26948768 )
2016
22
Questioning flecainide's mechanism of action in the treatment of catecholaminergic polymorphic ventricular tachycardia. ( 27800620 )
2016
23
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 26920200 )
2016
24
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor? ( 27840378 )
2016
25
Integration of 60 000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia associated variants. ( 27538377 )
2016
26
Efficacy of bilateral thoracoscopic sympathectomy in a patient with catecholaminergic polymorphic ventricular tachycardia. ( 26949433 )
2016
27
Catecholaminergic Polymorphic Ventricular Tachycardia in Pregnancy. ( 26959204 )
2016
28
Catecholaminergic Polymorphic Ventricular Tachycardia as the Etiology of Emergency Medical Services-Reported Traumatic Arrest. ( 27668923 )
2016
29
Catecholaminergic polymorphic ventricular tachycardia associated with sinus node dysfunction and junctional rhythm: Case report and literature review. ( 27539163 )
2016
30
Letter by PatanA" Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". ( 26811281 )
2016
31
A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses. ( 27491078 )
2016
32
Letter by Gow Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". ( 26811282 )
2016
33
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. ( 27711080 )
2016
34
Elimination of Ventricular Arrhythmia in Catecholaminergic Polymorphic Ventricular Tachycardia by Targeting "Catecholamine-sensitive area": A Dominant-Subordinate Relationship between Origin Sites of Bidirectional Ventricular Premature Contractions. ( 28012210 )
2016
35
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
36
Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27180891 )
2016
37
The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27403293 )
2016
38
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor?a88- Reply. ( 27840380 )
2016
39
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. ( 27157848 )
2016
40
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. ( 27523319 )
2016
41
Nebivolol Suppresses Cardiac Ryanodine Receptor Mediated Spontaneous Ca2+ Release and Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27623776 )
2016
42
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia. ( 27909533 )
2016
43
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. ( 27646203 )
2016
44
Teenage pregnancy with catecholaminergic polymorphic ventricular tachycardia and documented ICD discharges. ( 27099728 )
2016
45
Current topics in catecholaminergic polymorphic ventricular tachycardia. ( 27761157 )
2016
46
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
47
Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". ( 26811283 )
2016
48
Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. ( 27225049 )
2016
49
Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children. ( 27256466 )
2016
50
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutationsa88- Long-Term Prognosis After Initiation of Medical Treatment. ( 27452199 )
2016

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

ClinVar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

6 (show all 15)
id 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.12544G> C (p.Glu4182Gln) single nucleotide variant Likely pathogenic rs397516508 GRCh37 Chromosome 1, 237947556: 237947556
3 RYR2 NM_001035.2(RYR2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516539 GRCh37 Chromosome 1, 237540665: 237540665
4 CASQ2 NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs) indel Likely pathogenic rs397516643 GRCh37 Chromosome 1, 116275548: 116275550
5 CASQ2 NM_001232.3(CASQ2): c.923C> T (p.Pro308Leu) single nucleotide variant Pathogenic rs139228801 GRCh37 Chromosome 1, 116247829: 116247829
6 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
7 RYR2 NM_001035.2(RYR2): c.6916G> A (p.Val2306Ile) single nucleotide variant Pathogenic rs794728746 GRCh37 Chromosome 1, 237801780: 237801780
8 RYR2 NM_001035.2(RYR2): c.7159G> A (p.Ala2387Thr) single nucleotide variant Likely pathogenic rs794728753 GRCh38 Chromosome 1, 237640940: 237640940
9 RYR2 NM_001035.2(RYR2): c.11836G> A (p.Gly3946Ser) single nucleotide variant Pathogenic rs794728777 GRCh37 Chromosome 1, 237942026: 237942026
10 RYR2 NM_001035.2(RYR2): c.14311G> A (p.Val4771Ile) single nucleotide variant Pathogenic/Likely pathogenic rs794728804 GRCh38 Chromosome 1, 237808913: 237808913
11 RYR2 NM_001035.2(RYR2): c.(?_169)_(273_?)del (p.(?)) deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 237330878: 237330982
12 CASQ2 NM_001232.3(CASQ2): c.940-1G> T single nucleotide variant Likely pathogenic rs876657635 GRCh38 Chromosome 1, 115702996: 115702996
13 CASQ2 NM_001232.3(CASQ2): c.235-2A> G single nucleotide variant Likely pathogenic rs1060502164 GRCh38 Chromosome 1, 115744914: 115744914
14 TRDN NM_006073.3(TRDN): c.618delG (p.Ala208Leufs) deletion Pathogenic rs1060502114 GRCh37 Chromosome 6, 123825039: 123825039
15 TRDN NM_006073.3(TRDN): c.1051+1G> A single nucleotide variant Likely pathogenic rs535908547 GRCh38 Chromosome 6, 123438062: 123438062

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 GeneCards Suite gene sharing:

(show top 50) (show all 53)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
2
Show member pathways
13.08 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
3
Show member pathways
13 CALM1 CALM2 CALM3 KCNH2 KCNJ2 KCNQ1
4
Show member pathways
12.82 ATP2A2 CALM1 CALM2 CALM3 KCNJ2 KCNQ1
5
Show member pathways
12.69 CALM1 CALM2 CALM3 KCNJ2 KCNQ1 RYR1
6
Show member pathways
12.53 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
7
Show member pathways
12.41 ASPH ATP2A2 CALM1 CALM2 CALM3 FKBP1B
8
Show member pathways
12.4 CALM1 CALM2 CALM3 RYR2
9
Show member pathways
12.37 ATP2A2 CALM1 CALM2 CALM3
10
Show member pathways
12.3 ATP2A2 CALM1 CALM2 CALM3 CALR CASQ1
11 12.28 ATP2A2 CALM1 CALM2 CALM3 KCNE2 KCNH2
12
Show member pathways
12.27 ATP2A2 CALM1 CALM2 CALM3 RYR2
13
Show member pathways
12.24 ATP2A2 CALM1 CALM2 CALM3
14
Show member pathways
12.2 ATP2A2 CALM1 CALM2 CALM3 RYR1 RYR2
15 12.16 KCNH2 KCNQ1 RYR2 SCN5A
16
Show member pathways
12.13 CALM1 CALM2 CALM3 KCNE2 KCNJ2 KCNQ1
17 12.03 ATP2A2 CALM1 CALR RYR1
18 12.03 CALM1 CALM2 CALM3 RYR1 RYR2
19
Show member pathways
11.92 CALM1 CALM2 CALM3
20 11.9 CALM1 CALM2 CALM3
21 11.89 CALM1 CALM2 CALM3
22
Show member pathways
11.87 CALM1 CALM2 CALM3
23 11.86 ATP2A2 KCNQ1 RYR2
24
Show member pathways
11.85 CALM1 CALM2 CALM3 CD2AP
25
Show member pathways
11.84 CALM1 CALM2 CALM3
26
Show member pathways
11.84 CALM1 CALM2 CALM3
27
Show member pathways
11.76 CALM1 CALM2 CALM3
28
Show member pathways
11.75 CALM1 CALM2 CALM3
29
Show member pathways
11.74 CALM1 CALM2 CALM3
30 11.74 CALM1 CALM2 CALM3
31 11.72 CALM1 CALM2 CALM3
32
Show member pathways
11.72 CALM1 CALM2 CALM3 KCNE2 KCNQ1 SCN5A
33
Show member pathways
11.67 CALM1 CALM2 CALM3
34 11.64 CALM1 CALM2 CALM3 KCNJ2
35 11.63 CALM1 CALM2 CALM3
36
Show member pathways
11.62 CALM1 CALM2 CALM3
37 11.54 CALM1 CALM2 CALM3
38 11.37 CALM1 CALM2 CALM3
39 11.37 CALM1 CALM2 CALM3
40 11.35 CALM1 CALM2 CALM3
41 11.33 ATP2A2 CALM1 CALM2
42 11.31 CALM1 CALM2 CALM3
43 11.28 CALM1 CALM2 CALM3
44 11.24 CALM1 CALM2 CALM3
45 11.24 CALM1 CALM2 CALM3
46 11.23 CALM1 CALM2 CALM3
47 11.11 ANK2 ATP2A2 CASQ1 CASQ2 FKBP1B KCNE2
48 11.09 CALM1 CALM2 CALM3
49 11 CALM1 CALM2 CALM3
50 10.99 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 15)
id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.88 ANK2 CASQ2 FKBP1B RYR2 SCN5A
2 T-tubule GO:0030315 9.83 ANK2 CASQ1 KCNJ2 RYR1 SCN5A
3 sarcomere GO:0030017 9.8 CALM1 CALM2 CALM3 RYR2
4 sarcolemma GO:0042383 9.72 ANK2 CASQ1 SCN5A
5 intercalated disc GO:0014704 9.71 ANK2 KCNJ2 SCN5A
6 voltage-gated potassium channel complex GO:0008076 9.71 KCNE2 KCNH2 KCNJ2 KCNQ1
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 CASQ2 RYR1 RYR2 TRDN
8 smooth endoplasmic reticulum GO:0005790 9.65 CALR CASQ1 KCNJ2 RYR1 RYR2
9 junctional membrane complex GO:0030314 9.63 CASQ2 RYR1 TRDN
10 calcium channel complex GO:0034704 9.63 CALM1 CALM2 CALM3 CASQ2 FKBP1B RYR2
11 sarcoplasmic reticulum lumen GO:0033018 9.62 CALR CASQ1 CASQ2 TRDN
12 sarcoplasmic reticulum GO:0016529 9.61 ASPH ATP2A2 CALR CASQ1 CASQ2 FKBP1B
13 terminal cisterna GO:0014802 9.52 CASQ1 RYR1
14 sarcoplasmic reticulum membrane GO:0033017 9.23 ASPH ATP2A2 CASQ1 CASQ2 FKBP1B RYR1
15 endoplasmic reticulum GO:0005783 10.11 ASPH ATP2A2 CALR CASQ1 KCNQ1 SCN5A

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

(show top 50) (show all 75)
id Name GO ID Score Top Affiliating Genes
1 cardiac conduction GO:0061337 9.97 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
2 cardiac muscle contraction GO:0060048 9.97 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
3 regulation of heart rate by cardiac conduction GO:0086091 9.93 ANK2 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
4 muscle contraction GO:0006936 9.92 ASPH RYR1 TRDN
5 response to organic substance GO:0010033 9.92 CALR CASQ1 FKBP1B
6 regulation of cardiac muscle contraction GO:0055117 9.91 ANK2 CALM1 CALM2 CALM3 RYR2
7 cellular response to drug GO:0035690 9.9 KCNE2 KCNH2 KCNQ1
8 response to calcium ion GO:0051592 9.9 CALM1 CALM2 CALM3
9 positive regulation of protein serine/threonine kinase activity GO:0071902 9.89 CALM1 CALM2 CALM3
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.89 ANK2 KCNE2 KCNH2 KCNQ1 SCN5A
11 release of sequestered calcium ion into cytosol GO:0051209 9.88 FKBP1B RYR1 RYR2
12 detection of calcium ion GO:0005513 9.88 CALM1 CALM2 CALM3 CASQ2 RYR2
13 regulation of cytosolic calcium ion concentration GO:0051480 9.87 FKBP1B RYR1 RYR2
14 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.87 CALM1 CALM2 CALM3
15 regulation of cardiac conduction GO:1903779 9.86 ASPH ATP2A2 CASQ1 CASQ2 FKBP1B RYR1
16 positive regulation of protein dephosphorylation GO:0035307 9.85 CALM1 CALM2 CALM3
17 positive regulation of protein autophosphorylation GO:0031954 9.85 CALM1 CALM2 CALM3
18 positive regulation of heart rate GO:0010460 9.85 ATP2A2 KCNQ1 RYR2
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.85 KCNE2 KCNJ2 SCN5A
20 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.85 CALM1 CALM2 CALM3 TRDN
21 ventricular cardiac muscle cell action potential GO:0086005 9.85 ANK2 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
22 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.84 CALM1 CALM2 CALM3
23 positive regulation of potassium ion transmembrane transport GO:1901381 9.84 KCNH2 KCNJ2 KCNQ1
24 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.84 FKBP1B RYR1 RYR2 TRDN
25 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.83 CALM1 CALM2 CALM3
26 regulation of cardiac muscle cell contraction GO:0086004 9.83 ANK2 KCNJ2 SCN5A
27 membrane repolarization during action potential GO:0086011 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1
28 regulation of membrane repolarization GO:0060306 9.83 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
29 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.82 KCNH2 KCNJ2 KCNQ1
30 atrial cardiac muscle cell action potential GO:0086014 9.81 ANK2 KCNQ1 SCN5A
31 potassium ion export GO:0071435 9.81 KCNE2 KCNH2 KCNQ1
32 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.8 CALM1 CALM2 CALM3
33 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.8 ANK2 ATP2A2 RYR2
34 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.8 CALM1 CALM2 CALM3 CASQ2 FKBP1B TRDN
35 cellular response to caffeine GO:0071313 9.79 CASQ2 RYR1 RYR2
36 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.79 KCNE2 KCNH2 KCNQ1
37 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.77 CALM1 CALM2 CALM3
38 sarcoplasmic reticulum calcium ion transport GO:0070296 9.77 ANK2 ATP2A2 RYR2
39 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.76 CALM1 CALM2 CALM3
40 regulation of heart rate GO:0002027 9.76 ANK2 CALM1 CALM2 CALM3 CASQ2 FKBP1B
41 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.75 CALM1 FKBP1B
42 regulation of potassium ion transmembrane transport GO:1901379 9.74 KCNE2 KCNH2
43 cellular response to epinephrine stimulus GO:0071872 9.74 KCNQ1 RYR2
44 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.74 FKBP1B RYR2
45 protein polymerization GO:0051258 9.74 CASQ1 CASQ2
46 relaxation of cardiac muscle GO:0055119 9.74 ATP2A2 KCNJ2
47 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 ANK2 TRDN
48 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.73 KCNJ2 SCN5A
49 response to denervation involved in regulation of muscle adaptation GO:0014894 9.73 CASQ1 SCN5A
50 response to redox state GO:0051775 9.73 FKBP1B RYR2

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.99 ANK2 CALM1 CALM2 CALM3 RYR2 SCN5A
2 enzyme binding GO:0019899 9.96 ANK2 ATP2A2 RYR1 RYR2 SCN5A
3 calmodulin binding GO:0005516 9.88 KCNQ1 RYR1 RYR2 SCN5A
4 ion channel activity GO:0005216 9.84 KCNH2 RYR1 RYR2 SCN5A
5 voltage-gated ion channel activity GO:0005244 9.8 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
6 potassium channel activity GO:0005267 9.77 KCNE2 KCNH2 KCNQ1
7 voltage-gated potassium channel activity GO:0005249 9.76 KCNE2 KCNH2 KCNQ1
8 scaffold protein binding GO:0097110 9.74 KCNH2 KCNQ1 SCN5A
9 protein serine/threonine kinase activator activity GO:0043539 9.7 CALM1 CALM2 CALM3
10 delayed rectifier potassium channel activity GO:0005251 9.67 KCNE2 KCNH2 KCNQ1
11 inward rectifier potassium channel activity GO:0005242 9.65 KCNE2 KCNH2 KCNJ2
12 calcium ion binding GO:0005509 9.65 ASPH ATP2A2 CALM1 CALM2 CALM3 CALR
13 titin binding GO:0031432 9.63 CALM1 CALM2 CALM3
14 protein kinase A catalytic subunit binding GO:0034236 9.61 KCNQ1 RYR2
15 calcium-release channel activity GO:0015278 9.61 RYR1 RYR2
16 calcium-induced calcium release activity GO:0048763 9.55 RYR1 RYR2
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.54 KCNE2 KCNH2 KCNQ1
18 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNH2 KCNJ2 KCNQ1
19 protein phosphatase activator activity GO:0072542 9.43 CALM1 CALM2 CALM3
20 ryanodine-sensitive calcium-release channel activity GO:0005219 9.33 FKBP1B RYR1 RYR2
21 ion channel binding GO:0044325 9.32 ANK2 CALM1 CALM2 CALM3 FKBP1B KCNE2
22 calcium channel inhibitor activity GO:0019855 9.13 FKBP1B
23 protein binding GO:0005515 10.52 ANK2 ASPH ATP2A2 CALM1 CALM2 CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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