MCID: CTC001
MIFTS: 56

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Sources:
22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 22 46 23 24 52 25
Catecholamine-Induced Polymorphic Ventricular Tachycardia 22 46 23 24
Familial Polymorphic Ventricular Tachycardia 22 46 23 24
Cpvt 22 24 52
Bidirectional Tachycardia Induced by Catecholamine 46 52
Stress-Induced Polymorphic Ventricular Tachycardia 46 66
Malignant Paroxysmal Ventricular Tachycardia 46 52
Double Tachycardia Induced by Catecholamines 46 52
Multifocal Ventricular Premature Beats 46 52
Fpvt 22 24
 
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 66
Ventricular Tachycardia, Catecholaminergic Polymorphic 48
Bidirectional Tachycardia Induced by Catecholamines 24
Polymorphic Catecholergic Ventricular Tachycardia 46
Ventricular Tachycardia, Familial Polymorphic 48
Multifocal Premature Ventricular Beats 66
Familial Ventricular Tachycardia 66
Syncopal Paroxysmal Tachycardia 46
Multifocal Pvcs 66
Cvpt 46

Characteristics:

Orphanet epidemiological data:

52
catecholaminergic polymorphic ventricular tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age

Classifications:



External Ids:

Orphanet52 ORPHA3286
ICD10 via Orphanet29 I47.2

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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NIH Rare Diseases:46 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 calm1-related catecholaminergic polymorphic ventricular tachycardia, and has symptoms including vertigo, sudden cardiac death and seizures. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is RYR2 (Ryanodine Receptor 2), and among its related pathways are Translocation of GLUT4 to the plasma membrane and Endochondral Ossification. Affiliated tissues include heart and testes, and related mouse phenotypes are cardiovascular system and muscle.

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:69 Catecholaminergic polymorphic ventricular tachycardia (CPVT), also called familial polymorphic... more...

GeneReviews summary for NBK1289

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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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
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 60)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.5ANK2, CALM1, DSG2, RYR2
2calm1-related catecholaminergic polymorphic ventricular tachycardia12.4
3casq2-related catecholaminergic polymorphic ventricular tachycardia12.4
4ryr2-related catecholaminergic polymorphic ventricular tachycardia12.4
5trdn-related catecholaminergic polymorphic ventricular tachycardia12.4
6long qt syndrome10.6
7syncope10.5
8brugada syndrome10.4
9cardiac arrest10.4
10acute tricyclic antidepressant poisoning10.4KCNH2, KCNJ2
11atrial fibrillation10.4
12cardiac arrhythmia, ankyrin-b-related10.4
13frontotemporal dementia, right temporal atrophy variant10.3DSG2, RYR2
14unverricht-lundborg syndrome10.3RYR1, RYR2, TRDN
15todd's paralysis10.2CALM1, CALM2, KCNH2
16fixed pigmented erythema10.2DSG2, RYR2
17cardiac conduction disease with or without dilated cardiomyopathy10.2ANK2, KCNH2, KCNJ2
18cardiomyopathy10.2
19sudden cardiac death10.2
20prostate malignant phyllodes tumor10.2KCNH2, RYR2, TRDN
21myelodysplastic myeloproliferative cancer10.2RYR1, RYR2
22ketamine-induced biliary dilatation10.2DSG2, RYR2
23cone dystrophy10.2KCNH2, KCNJ2, TRDN
24microcephaly-polymicrogyria-corpus callosum agenesis syndrome10.2ANK2, KCNH2, KCNJ2
25hypokalemic periodic paralysis, type 110.1KCNJ2, RYR1, TRDN
26chicken egg allergy10.1FKBP1B, RYR2, TRDN
27arrhythmogenic right ventricular cardiomyopathy10.1
28short qt syndrome10.1
29left ventricular noncompaction10.1
30epilepsy10.1
31malignant hyperthermia10.1
32monocular esotropia10.1KCNJ2, RYR1
33autoimmune disease of skin and connective tissue10.0DSG2, RYR2, TRDN
34stormorken syndrome10.0CALR, RYR1, TRDN
35jervell and lange-nielsen syndrome10.0ANK2, CALM1, CALM2, KCNH2
36usher syndrome9.9DSG2, KCNH2, RYR2
37endometrial stromal sarcoma9.9RYR1, RYR2
38carotid stenosis9.9CALM1, CALM2, CALM3
39long qt syndrome 149.9CALM1, CALM2, CALM3
40long qt syndrome 159.9CALM1, CALM2, CALM3
41bleeding disorder, platelet-type, 159.9CALM1, CALM2, CALM3
42porokeratosis9.9CALM1, CALM2, CALM3
43regional ureteric cancer9.9CALM1, CALM2, CALM3
44meningitis9.8CALM1, CALM2, CALM3
45pseudohypoaldosteronism, type iic9.8CALM1, CALM2, CALM3
46blind hypertensive eye9.8CALM1, CALM2, CALM3
47pontiac fever9.8CALM1, CALM2, CALM3
48childhood brain germinoma9.8CALM1, CALM2, CALM3
49fanconi anemia, complementation group n9.8ATP2A2, RYR1
50anxiety disorder9.8CALM1, CALM2, CALM3

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



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Symptoms for Catecholaminergic Polymorphic Ventricular Tachycardia

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Symptoms:

 52
  • syncope
  • sudden cardiac death
  • vertigo
  • ventricular tachycardia

HPO human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Description Frequency HPO Source Accession
1 vertigo typical (50%) HP:0002321
2 sudden cardiac death occasional (7.5%) HP:0001645

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures, syncope

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Flecainide4154143-55-43356
Synonyms:
(+-)-Flecainide
54143-55-4
54143-56-5 (monoacetate)
99495-87-1
AB00513907
AC-16019
AC1L1FQZ
BCBcMAP01_000189
BPBio1_000760
BRD-A09472452-001-02-8
BRD-A09472452-015-03-6
BSPBio_000690
BSPBio_001317
Bio1_000375
Bio1_000864
Bio1_001353
Bio2_000037
Bio2_000517
C07001
C17H20F6N2O3
CCRIS 313
CHEBI:127588
CHEMBL652
CID3356
D07962
DB01195
Flecaine
Flecainida
Flecainida [INN-Spanish]
Flecainide (INN)
Flecainide [INN:BAN]
Flecainide acetate
Flecainidum
 
Flecainidum [INN-Latin]
HMS1791B19
HMS1989B19
HMS2089E17
IDI1_033787
KBio2_000037
KBio2_002605
KBio2_005173
KBio3_000073
KBio3_000074
KBioGR_000037
KBioSS_000037
LS-27388
Lopac0_000546
MolPort-003-847-380
N-(2-Piperidinylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis[(2,2,2-trifluoroethyl)oxy]benzamide
NCGC00025175-03
NCGC00025175-04
NCGC00025175-05
NCGC00025175-06
NSC719273
Prestwick0_000735
Prestwick1_000735
Prestwick2_000735
Prestwick3_000735
R818
SMP1_000074
SPBio_002629
TL80090300
Tambocor
UNII-K94FTS1806
flecainide

Interventional clinical trials:

idNameStatusNCT IDPhase
1Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2
2Flecainide for Catecholaminergic Polymorphic Ventricular TachycardiaCompletedNCT01117454
3Genetic Markers of Cardiovascular Disease in EpilepsyRecruitingNCT02824822
4Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450
5Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)Not yet recruitingNCT02927223

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

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Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia25 23 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

34
Heart, Testes

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.2ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2
2MP:00053696.0ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? (27659101)
2016
2
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
3
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. (27523319)
2016
4
Catecholaminergic Polymorphic Ventricular Tachycardia in Pregnancy. (26959204)
2016
5
Catecholaminergic polymorphic ventricular tachycardia: disease with different faces. (26082524)
2015
6
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
7
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
8
Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks. (26078933)
2015
9
Catecholaminergic Polymorphic Ventricular Tachycardia with QT Prolongation. (26256814)
2015
10
Slowed depolarization and irregular repolarization in catecholaminergic polymorphic ventricular tachycardia: a study from cellular Ca2+ transients and action potentials to clinical monophasic action potentials and electrocardiography. (26705554)
2015
11
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
12
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
13
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
14
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
15
A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia. (25092222)
2014
16
Dizziness and syncope in young people: keep yourmind open! Case report of the challenging differentiation between arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) and catecholaminergic polymorphic ventricular tachycardia (CPVT). (24897975)
2014
17
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
18
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
19
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
20
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. (24025405)
2013
21
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
22
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
23
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
24
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
25
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
26
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
27
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
28
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
29
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia. (22421959)
2012
30
Modeling Catecholaminergic Polymorphic Ventricular Tachycardia using Induced Pluripotent Stem Cell-derived Cardiomyocytes. (23908839)
2012
31
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
32
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
33
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
34
Possible targets of therapy for catecholaminergic polymorphic ventricular tachycardia. - Insight from a theoretical model -. (21646727)
2011
35
Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation. (20807279)
2011
36
Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT). (21063088)
2010
37
Molecular basis of catecholaminergic polymorphic ventricular tachycardia. (19121813)
2009
38
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. (19467503)
2009
39
Mechanisms and clinical management of inherited channelopathies: long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome. (19631908)
2009
40
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia. (19843922)
2009
41
The long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (19602163)
2009
42
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. (19398665)
2009
43
A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia]. (18543230)
2008
44
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. (17666061)
2007
45
Unraveling the mechanisms of catecholaminergic polymorphic ventricular tachycardia. (17959506)
2006
46
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights. (15913575)
2005
47
Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation. (15721128)
2005
48
Catecholaminergic polymorphic ventricular tachycardia, recurrent syncope, and implantable loop recorder. (15175074)
2004
49
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
50
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. (7867192)
1995

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
3DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
5RYR2NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp)single nucleotide variantPathogenicrs190140598GRCh38Chr 1, 237445488: 237445488
6RYR2NM_001035.2(RYR2): c.7159G> A (p.Ala2387Thr)single nucleotide variantLikely pathogenic, Pathogenicrs794728753GRCh38Chr 1, 237640940: 237640940
7RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh37Chr 1, 237804283: 237804283
8RYR2NM_001035.2(RYR2): c.6916G> A (p.Val2306Ile)single nucleotide variantPathogenicrs794728746GRCh37Chr 1, 237801780: 237801780
9RYR2NM_001035.2(RYR2): c.(?_169)_(273_?)del (p.(?))deletionLikely pathogenic
10CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
11CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
12RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
13ANK2NM_001148.4(ANK2): c.10708G> A (p.Glu3570Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180843436GRCh37Chr 4, 114282005: 114282005

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

Pathways for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show top 50)    (show all 63)
idSuper pathwaysScoreTop Affiliating Genes
19.6CALM1, CALM2, CALM3
29.6CALM1, CALM2, CALM3
3
Show member pathways
9.6CALM1, CALM2, CALM3
4
Show member pathways
9.6CALM1, CALM2, CALM3
59.6CALM1, CALM2, CALM3
69.6CALM1, CALM2, CALM3
79.6CALM1, CALM2, CALM3
89.6CALM1, CALM2, CALM3
99.6CALM1, CALM2, CALM3
109.6CALM1, CALM2, CALM3
11
Show member pathways
9.6CALM1, CALM2, CALM3
12
Show member pathways
9.6CALM1, CALM2, CALM3
139.6CALM1, CALM2, CALM3
14
Show member pathways
9.6CALM1, CALM2, CALM3
15
Show member pathways
9.6CALM1, CALM2, CALM3
16
Show member pathways
9.6CALM1, CALM2, CALM3
17
Show member pathways
9.6CALM1, CALM2, CALM3
18
Show member pathways
9.6CALM1, CALM2, CALM3
199.6CALM1, CALM2, CALM3
209.6CALM1, CALM2, CALM3
219.6CALM1, CALM2, CALM3
229.6CALM1, CALM2, CALM3
239.6CALM1, CALM2, CALM3
249.6CALM1, CALM2, CALM3
259.6CALM1, CALM2, CALM3
26
Show member pathways
9.6CALM1, CALM2, CALM3
279.6CALM1, CALM2, CALM3
28
Show member pathways
9.4CALM1, CALM2, CALM3, RYR2
29
Show member pathways
9.2CALM1, CALM2, CALM3, KCNJ2
309.2CALM1, CALM2, CALM3, KCNJ2
319.2ATP2A2, RYR1
32
Show member pathways
9.2CALM1, CALM2, CALM3, RYR1
33
Show member pathways
9.1CALM1, CALM2, CALM3, CALR
34
Show member pathways
8.9CALM1, CALM2, CALM3, RYR1, RYR2
358.8ATP2A2, CALM1, CALM2, CALM3
36
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3
37
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3
38
Show member pathways
8.6ATP2A2, CALM1, CALM2, CALM3, RYR2
39
Show member pathways
8.6ATP2A2, CALM1, CALM2, CALM3, RYR2
40
Show member pathways
8.6CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
41
Show member pathways
8.6CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
428.4ATP2A2, CALM1, CALR, RYR1
438.1ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
44
Show member pathways
8.1ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
458.0ATP2A2, CALM1, CALM2, CALM3, KCNH2, KCNJ2
467.5ANK2, ATP2A2, CASQ2, FKBP1B, KCNH2, KCNJ2
47
Show member pathways
7.3ATP2A2, CALM1, CALM2, CALM3, CALR, CASQ2
48
Show member pathways
6.7ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
49
Show member pathways
6.7ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
50
Show member pathways
5.9ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1spindle microtubuleGO:000587610.2CALM1, CALM2, CALM3
2junctional membrane complexGO:003031410.2CASQ2, RYR1, TRDN
3sarcoplasmic reticulum lumenGO:003301810.1CALR, CASQ2, TRDN
4spindle poleGO:000092210.1CALM1, CALM2, CALM3
5sarcomereGO:003001710.0CALM1, CALM2, CALM3, RYR2
6T-tubuleGO:003031510.0ANK2, KCNJ2, RYR1
7junctional sarcoplasmic reticulum membraneGO:00147019.9CASQ2, RYR1, RYR2, TRDN
8vesicleGO:00319829.8CALM1, CALM2, CALM3
9intercalated discGO:00147049.8ANK2, DSG2, KCNJ2
10growth coneGO:00304269.8CALM1, CALM2, CALM3
11Z discGO:00300189.6ANK2, CASQ2, FKBP1B, RYR2
12smooth endoplasmic reticulumGO:00057909.3CALR, KCNJ2, RYR1, RYR2
13calcium channel complexGO:00347049.2CALM1, CALM2, CALM3, CASQ2, FKBP1B, RYR2
14voltage-gated potassium channel complexGO:00080769.1CALM1, CALM2, CALM3, KCNH2, KCNJ2
15sarcoplasmic reticulumGO:00165298.0ATP2A2, CALR, CASQ2, FKBP1B, RYR1, RYR2
16sarcoplasmic reticulum membraneGO:00330177.7ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
17plasma membraneGO:00058866.6ANK2, ASPH, CALM1, CALM2, CALM3, DSG2

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

(show top 50)    (show all 72)
idNameGO IDScoreTop Affiliating Genes
1regulation of atrial cardiac muscle cell action potentialGO:009891010.6ANK2, RYR2
2regulation of SA node cell action potentialGO:009890710.6ANK2, RYR2
3Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.5CASQ2, RYR2
4positive regulation of sequestering of calcium ionGO:005128410.4FKBP1B, RYR2
5positive regulation of phosphoprotein phosphatase activityGO:003251610.2CALM1, CALM2, CALM3
6positive regulation of cyclic nucleotide metabolic processGO:003080110.2CALM1, CALM2, CALM3
7positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.2CALM1, CALM2, CALM3
8inositol phosphate metabolic processGO:004364710.2CALM1, CALM2, CALM3
9regulation of high voltage-gated calcium channel activityGO:190184110.2CALM1, CALM2, CALM3
10positive regulation of protein autophosphorylationGO:003195410.2CALM1, CALM2, CALM3
11regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.2CALM1, CALM2, CALM3
12positive regulation of DNA bindingGO:004338810.1CALM1, CALM2, CALM3
13regulation of cytokinesisGO:003246510.1CALM1, CALM2, CALM3
14positive regulation of peptidyl-threonine phosphorylationGO:001080010.1CALM1, CALM2, CALM3
15ventricular cardiac muscle cell action potentialGO:008600510.1ANK2, KCNH2, RYR2
16cellular response to caffeineGO:007131310.1CASQ2, RYR1, RYR2
17regulation of rhodopsin mediated signaling pathwayGO:002240010.1CALM1, CALM2, CALM3
18substantia nigra developmentGO:002176210.1CALM1, CALM2, CALM3
19glycogen catabolic processGO:000598010.1CALM1, CALM2, CALM3
20response to corticosteroneGO:005141210.1CALM1, CALM2, CALM3
21Wnt signaling pathway, calcium modulating pathwayGO:000722310.1CALM1, CALM2, CALM3
22positive regulation of protein serine/threonine kinase activityGO:007190210.1CALM1, CALM2, CALM3
23positive regulation of protein dephosphorylationGO:003530710.0CALM1, CALM2, CALM3
24negative regulation of peptidyl-threonine phosphorylationGO:001080110.0CALM1, CALM2, CALM3
25regulation of membrane repolarizationGO:006030610.0CASQ2, KCNH2, KCNJ2
26positive regulation of nitric-oxide synthase activityGO:005100010.0CALM1, CALM2, CALM3
27regulation of nitric-oxide synthase activityGO:005099910.0CALM1, CALM2, CALM3
28T-tubule organizationGO:00332929.9ANK2, ATP2A2
29cardiac muscle contractionGO:00600489.9CASQ2, KCNH2, RYR2
30positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.9CALM1, CALM2, CALM3, TRDN
31calcium-mediated signalingGO:00197229.9CALM2, CALM3, RYR2
32regulation of cardiac muscle contraction by calcium ion signalingGO:00108829.7ANK2, ATP2A2, RYR2
33regulation of cytosolic calcium ion concentrationGO:00514809.7FKBP1B, RYR1, RYR2
34sarcoplasmic reticulum calcium ion transportGO:00702969.7ANK2, ATP2A2, RYR2
35regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.7CALM2, CALM3, FKBP1B
36detection of calcium ionGO:00055139.7CALM1, CALM2, CALM3, CASQ2, RYR2
37regulation of cardiac muscle contractionGO:00551179.6ANK2, CALM1, CALM2, CALM3, RYR2
38activation of adenylate cyclase activityGO:00071909.6CALM1, CALM2, CALM3
39release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.6FKBP1B, RYR1, RYR2, TRDN
40release of sequestered calcium ion into cytosolGO:00512099.5FKBP1B, RYR1, RYR2
41regulation of heart rate by cardiac conductionGO:00860919.3ANK2, DSG2, KCNH2, KCNJ2
42response to amphetamineGO:00019759.3CALM1, CALM2, CALM3
43negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.1CALM1, CALM2, CALM3, CASQ2, FKBP1B, TRDN
44regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.0CALM1, CALM2, CALM3, CASQ2, FKBP1B, TRDN
45regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.7ANK2, CALM1, CALM2, CALM3, CASQ2, FKBP1B
46muscle contractionGO:00069368.6ASPH, CALM1, CALM2, CALM3, RYR1, TRDN
47regulation of heart rateGO:00020278.5ANK2, CALM1, CALM2, CALM3, CASQ2, FKBP1B
48cellular calcium ion homeostasisGO:00068748.3ANK2, ATP2A2, CALR, RYR2, TRDN
49regulation of cardiac conductionGO:19037797.6ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
50ion transmembrane transportGO:00342206.8ASPH, ATP2A2, CALM1, CALM2, CALM3, CASQ2

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:001527810.6RYR1, RYR2
2inward rectifier potassium channel activityGO:000524210.5KCNH2, KCNJ2
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.5KCNH2, KCNJ2
4nitric-oxide synthase regulator activityGO:003023510.3CALM1, CALM2, CALM3
5adenylate cyclase bindingGO:000817910.3CALM1, CALM2, CALM3
6inositol-1,4,5-trisphosphate 3-kinase activityGO:000844010.3CALM1, CALM2, CALM3
7type 3 metabotropic glutamate receptor bindingGO:003180010.3CALM1, CALM2, CALM3
8titin bindingGO:003143210.3CALM1, CALM2, CALM3
9protein phosphatase activator activityGO:007254210.3CALM1, CALM2, CALM3
10N-terminal myristoylation domain bindingGO:003199710.3CALM1, CALM2, CALM3
11thioesterase bindingGO:003199610.3CALM1, CALM2, CALM3
12protein serine/threonine kinase activator activityGO:004353910.3CALM1, CALM2, CALM3
13phosphatidylinositol 3-kinase bindingGO:004354810.2CALM1, CALM2, CALM3
14enzyme regulator activityGO:003023410.2CALM2, CALM3
15Ras guanyl-nucleotide exchange factor activityGO:000508810.2CALM1, CALM2, CALM3
16phospholipase bindingGO:004327410.2CALM1, CALM2, CALM3
17ligand-gated ion channel activityGO:001527610.2CALM1, CALM2, CALM3
18nitric-oxide synthase bindingGO:005099810.1CALM1, CALM2, CALM3
19ryanodine-sensitive calcium-release channel activityGO:000521910.1FKBP1B, RYR1, RYR2
20calcium-dependent protein bindingGO:00483069.9CALM1, CALM2, CALM3, CASQ2
21protein kinase bindingGO:00199019.4ANK2, CALM1, CALM2, CALM3, RYR2
22enzyme bindingGO:00198999.1ANK2, ATP2A2, RYR1, RYR2
23ion channel bindingGO:00443258.9ANK2, CALM1, CALM2, CALM3, FKBP1B, RYR2
24calcium ion bindingGO:00055096.6ASPH, ATP2A2, CALM1, CALM2, CALM3, CALR
25protein bindingGO:00055154.8ANK2, ASPH, ATP2A2, CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
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