MCID: CTC001
MIFTS: 58

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Aliases & Descriptions for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 11 23 47 24 25 53 26 34
Catecholamine-Induced Polymorphic Ventricular Tachycardia 23 47 24 25
Familial Polymorphic Ventricular Tachycardia 47 24 25
Cpvt 23 25 53
Stress-Induced Polymorphic Ventricular Tachycardia 47 67
Bidirectional Tachycardia Induced by Catecholamine 47 53
Malignant Paroxysmal Ventricular Tachycardia 47 53
Double Tachycardia Induced by Catecholamines 47 53
Multifocal Ventricular Premature Beats 47 53
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 67
 
Ventricular Tachycardia, Catecholaminergic Polymorphic 49
Bidirectional Tachycardia Induced by Catecholamines 25
Polymorphic Catecholergic Ventricular Tachycardia 47
Ventricular Tachycardia, Familial Polymorphic 49
Multifocal Premature Ventricular Beats 67
Familial Ventricular Tachycardia 67
Syncopal Paroxysmal Tachycardia 47
Multifocal Pvcs 67
Fpvt 25
Cvpt 47

Characteristics:

Orphanet epidemiological data:

53
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Penetrance: the mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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 Ontology11 DOID:0060674
ICD1029 I47.2
Orphanet53 ORPHA3286
ICD10 via Orphanet30 I47.2

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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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.

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 vertigo, sudden cardiac death and Array. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is RYR2 (Ryanodine Receptor 2), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and Downstream signaling in naive CD8+ T cells. Affiliated tissues include heart and testes, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:11 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.

Wikipedia:70 Catecholaminergic polymorphic ventricular tachycardia (CPVT), also called familial polymorphic... more...

GeneReviews 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
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 62)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 132.7ANK2, CALM1, DSG2, RYR2
2catecholaminergic polymorphic ventricular tachycardia 512.5
3calm1-related catecholaminergic polymorphic ventricular tachycardia12.2
4casq2-related catecholaminergic polymorphic ventricular tachycardia12.2
5ryr2-related catecholaminergic polymorphic ventricular tachycardia12.2
6trdn-related catecholaminergic polymorphic ventricular tachycardia12.2
7ventricular tachycardia, catecholaminergic polymorphic, 211.9
8ventricular tachycardia, catecholaminergic polymorphic, 311.9
9ventricular tachycardia, catecholaminergic polymorphic, 411.9
10cardiac arrhythmia, ankyrin-b-related11.2
11syncope10.4
12brugada syndrome10.3
13cardiac arrest10.3
14atrial fibrillation10.3
15unverricht-lundborg syndrome10.3RYR1, RYR2, TRDN
16myelodysplastic myeloproliferative cancer10.2RYR1, RYR2
17frontotemporal dementia, right temporal atrophy variant10.2DSG2, RYR2
18fixed pigmented erythema10.2DSG2, RYR2
19ketamine-induced biliary dilatation10.1DSG2, RYR2
20hypokalemic periodic paralysis, type 110.1KCNJ2, RYR1, TRDN
21acute tricyclic antidepressant poisoning10.1KCNH2, KCNJ2
22cardiomyopathy10.1
23sudden cardiac death10.1
24monocular esotropia10.1KCNJ2, RYR1
25chicken egg allergy10.1FKBP1B, RYR2, TRDN
26fanconi anemia, complementation group n10.1ATP2A2, RYR1
27autoimmune disease of skin and connective tissue10.0DSG2, RYR2, TRDN
28todd's paralysis10.0CALM1, CALM2, KCNH2
29stormorken syndrome10.0CALR, RYR1, TRDN
30arrhythmogenic right ventricular cardiomyopathy10.0
31short qt syndrome10.0
32left ventricular noncompaction10.0
33epilepsy10.0
34malignant hyperthermia10.0
35endometrial stromal sarcoma9.9RYR1, RYR2
36prostate malignant phyllodes tumor9.9KCNH2, RYR2, TRDN
37cardiac conduction disease with or without dilated cardiomyopathy9.9ANK2, KCNH2, KCNJ2
38cone dystrophy9.9KCNH2, KCNJ2, TRDN
39microcephaly-polymicrogyria-corpus callosum agenesis syndrome9.9ANK2, KCNH2, KCNJ2
40carotid stenosis9.9CALM1, CALM2, CALM3
41long qt syndrome 149.9CALM1, CALM2, CALM3
42long qt syndrome 159.9CALM1, CALM2, CALM3
43bleeding disorder, platelet-type, 159.8CALM1, CALM2, CALM3
44porokeratosis9.8CALM1, CALM2, CALM3
45regional ureteric cancer9.8CALM1, CALM2, CALM3
46meningitis9.8CALM1, CALM2, CALM3
47pseudohypoaldosteronism, type iic9.8CALM1, CALM2, CALM3
48blind hypertensive eye9.8CALM1, CALM2, CALM3
49pontiac fever9.8CALM1, CALM2, CALM3
50childhood brain germinoma9.8CALM1, 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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Human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

 63 53
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertigo63 53 typical (50%) Frequent (79-30%) HP:0002321
2 sudden cardiac death63 53 occasional (7.5%) Occasional (29-5%) HP:0001645
3 syncope53 Occasional (29-5%)
4 ventricular tachycardia53 Very frequent (99-80%)

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):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Atropineapproved, vet_approved1295908-99-6, 51-55-8174174
Synonyms:
(+,-)-Tropyl tropate
(+-)-Atropine
(+-)-Hyoscyamine
(+-)-atropine
(+-)-hyoscyamine
(+/-)-Atropine
(+/-)-Hyoscyamine
(3-Endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl tropate
(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl (2S)-3-hydroxy-2-phenylpropanoate
(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3-hydroxy-2-phenylpropanoate
(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl tropate
(3-endo)-8-methyl-8-azabicyclo[3.2.1]octan-3-ol
(3-endo,8-syn)-3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-methyl-8-azoniabicyclo[3.2.1]octane
(3-exo)-8-methyl-8-azabicyclo[3.2.1]octan-3-ol
(±)-atropine
(±)-hyoscyamine
1-alpha-H,5-alpha-H-Tropan-3-alpha-ol (+-)-tropate (ester)
1-alpha-H,5-alpha-H-Tropan-3-alpha-ol (+-)-tropate (ester) (8CI)
120-29-6
1alphaH,5alphaH-Tropan-3alpha-ol
1alphaH,5alphaH-Tropan-3alpha-ol (+-)-tropate (ester)
1alphaH,5alphaH-Tropan-3beta-ol
2-Phenylhydracrylic acid 3-alpha-tropanyl ester
51-55-8
8-Methyl-8-azabicyclo[3.2.1]oct-3-yl 3-hydroxy-2-phenylpropanoate
8-Methyl-8-azabicyclo[3.2.1]oct-3-yl tropate
8-Methyl-8-azabicyclo[3.2.1]octan-3-yl 3-hydroxy-2-phenylpropionate
A0132_SIGMA
A2468_SIGMA
AC1L5AX3
AC1Q3XL2
ACon1_000046
AI3-60219
AKOS005137976
ATROPINE
Ambap120-29-6
Anaspaz
Atropair
Atropen
Atropen (TN)
Atropin
Atropin [German]
Atropin-flexiolen
Atropina
Atropina [Italian]
Atropine
Atropine (USP)
Atropine Care
Atropine Sulfate
Atropine Sulfate S.O.P.
Atropine [BAN]
Atropinol
Atropinum
Atropt
Atrosulf
BRD-A27290375-001-01-8
Belladenal
Bellergal-S
Benzeneacetic acid, alpha-(hydroxymethyl)-, (3-endo)-8-methyl-8-azabicyclo(3.2.1)oct-3-yl ester
C01479
C17H23NO3
CAS-120-29-6
CCRIS 3080
CHEBI:15742
CHEBI:15884
CHEBI:16684
CHEBI:537621
CHEBI:57858
CHEMBL1235490
 
CID174174
CPD001906768
Cytospaz
D00113
DB00572
DB04026
DL-Hyoscyamine
DL-Tropanyl 2-hydroxy-1-phenylpropionate
DL-Tropyl tropate
EINECS 200-104-8
Eyesules
FT-0082634
HMS2089A16
HSDB 2199
Hyoscyamine sulfate
I-Tropine
Isopto Atropine
Isopto-atropine
LS-7203
MEGxp0_001878
MLS000069795
MLS001148094
MLS002695888
Minims
Minims Atropine
MolPort-001-742-593
MolPort-003-986-158
Mydriasine
NCGC00016370-01
NCGC00142514-01
NCGC00142514-03
NP-010662
Neo-Diophen
OR22908
Ocu-Tropine
Protamine & Atropine
SAM002554885
SMR000058248
ST057178
ST057655
T0534
TL8000018
Tropanol
Tropic acid, 3-alpha-tropanyl ester
Tropic acid, ester with tropine
Tropine (+/-)-tropate
Tropine tropate
Tropine, tropate (ester)
Troyl tropate
Urised
[(1R,5S)-8-methyl-8-azabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate
[(1S,5R)-8-Methyl-8-azabicyclo[3.2.1]oct-3-yl] 3-hydroxy-2-phenyl-propanoate
[(1S,5R)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl] 3-hydroxy-2-phenyl-propanoate
a-Tropine
atropinium cation
atropinium(1+)
b eta-(Hydroxymethyl)benzeneacetic acid 8-methyl-8-azabicyclo[3.2.1]oct-3-yl ester
beta-Phenyl-gamma-oxypropionsaeure-tropyl-ester [German]
beta-Phenyl-gamma-oxypropionsaure-tropyl-ester [German]
bmse000649
d1-hyoscyamine
dl-Hyoscyamine
dl-Tropyltropate
dl-tropyltropate
endo-(+/-)-alpha-(Hydroxymethyl)benzeneacetic acid 8-methyl-8-azabicyclo[3.2.1]oct-3-yl ester
endo-8-methyl-8-azabicyclo[3.2.1]octan-3-ol
hyoscyamine
nchembio.307-comp21
tropan-3alpha-ol
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate
tropan-3beta-ol
2Anti-Arrhythmia Agents2969
3Sodium Channel Blockers1515
4Diuretics, Potassium Sparing1827
5Neurotransmitter Agents17734
6Mydriatics763
7Peripheral Nervous System Agents22776
8Respiratory System Agents4818
9Muscarinic Antagonists1134
10Parasympatholytics1050
11Bronchodilator Agents2856
12Anesthetics9001
13Adjuvants, Anesthesia1588
14Anti-Asthmatic Agents3369
15Autonomic Agents9774
16Cholinergic Agents3846
17Cholinergic Antagonists1658

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 Tachycardia26 24 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.1ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2
2MP:00053696.2ASPH, 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 247)
idTitleAuthorsYear
1
Current topics in catecholaminergic polymorphic ventricular tachycardia. (27761157)
2016
2
Catecholaminergic Polymorphic Ventricular Tachycardia as the Etiology of Emergency Medical Services-Reported Traumatic Arrest. (27668923)
2016
3
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? (27659101)
2016
4
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
5
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. (27523319)
2016
6
Catecholaminergic Polymorphic Ventricular Tachycardia in Pregnancy. (26959204)
2016
7
Catecholaminergic polymorphic ventricular tachycardia: disease with different faces. (26082524)
2015
8
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
9
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
10
Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks. (26078933)
2015
11
Catecholaminergic Polymorphic Ventricular Tachycardia with QT Prolongation. (26256814)
2015
12
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
13
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. (24136861)
2014
14
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT). (23549275)
2014
15
Sinus node dysfunction in catecholaminergic polymorphic ventricular tachycardia: risk factor and potential therapeutic target? (25112803)
2014
16
Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: One patient with two diseases? (25016147)
2014
17
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
18
Triple mode of action of flecainide in catecholaminergic polymorphic ventricular tachycardia: reply. (23536607)
2013
19
Catecholaminergic polymorphic ventricular tachycardia detected by an implantable loop recorder in a child. (23917010)
2013
20
Abnormal propagation of calcium waves and ultrastructural remodeling in recessive catecholaminergic polymorphic ventricular tachycardia. (23674379)
2013
21
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. (24025405)
2013
22
Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest. (22584762)
2012
23
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia. (22519458)
2012
24
Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia. (22867967)
2012
25
Effects of flecainide therapy on inappropriate shocks and arrhythmias in catecholaminergic polymorphic ventricular tachycardia. (22672791)
2012
26
A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. (21806698)
2012
27
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. (22787013)
2012
28
Flecainide suppresses defibrillator-induced storming in catecholaminergic polymorphic ventricular tachycardia. (22553997)
2012
29
Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. (22119737)
2012
30
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia. (22421959)
2012
31
Modeling Catecholaminergic Polymorphic Ventricular Tachycardia using Induced Pluripotent Stem Cell-derived Cardiomyocytes. (23908839)
2012
32
Case of undiagnosed catecholaminergic polymorphic ventricular tachycardia presenting with ventricular fibrillation after administration of succinylcholine during anesthesia for modified electroconvulsive therapy. (21682817)
2011
33
Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant CaA^a8_release leading to catecholaminergic polymorphic ventricular tachycardia. (21768539)
2011
34
Mechanism of antiarrhythmic effects of flecainide in catecholaminergic polymorphic ventricular tachycardia. (21885838)
2011
35
Possible targets of therapy for catecholaminergic polymorphic ventricular tachycardia. - Insight from a theoretical model -. (21646727)
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)SNVPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)SNVPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
3DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)SNVPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)SNVPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
5RYR2NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp)SNVPathogenicrs190140598GRCh38Chr 1, 237445488: 237445488
6RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)SNVLikely pathogenic, Pathogenicrs794728756GRCh37Chr 1, 237804283: 237804283
7RYR2NM_001035.2(RYR2): c.6916G> A (p.Val2306Ile)SNVPathogenicrs794728746GRCh37Chr 1, 237801780: 237801780
8RYR2NM_001035.2(RYR2): c.(?_169)_(273_?)del (p.(?))deletionLikely pathogenic, PathogenicGRCh38Chr 1, 237330878: 237330982
9CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)SNVLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
10CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)SNVLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
11RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)SNVLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665

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 all 46)
idSuper pathwaysScoreTop Affiliating Genes
19.6ATP2A2, RYR1
2
Show member pathways
9.6CALM1, CALM2, CALM3
39.6CALM1, CALM2, CALM3
49.6CALM1, CALM2, CALM3
59.6CALM1, CALM2, CALM3
69.6CALM1, CALM2, CALM3
79.6CALM1, CALM2, CALM3
89.6CALM1, CALM2, CALM3
9
Show member pathways
9.6CALM1, 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
169.6CALM1, CALM2, CALM3
17
Show member pathways
9.6CALM1, CALM2, CALM3
189.6CALM1, CALM2, CALM3
199.6CALM1, CALM2, CALM3
209.6CALM1, CALM2, CALM3
219.6CALM1, CALM2, CALM3
229.6CALM1, CALM2, CALM3
239.6CALM1, CALM2, CALM3
24
Show member pathways
9.6CALM1, CALM2, CALM3
259.6CALM1, CALM2, CALM3
269.6CALM1, CALM2, CALM3
27
Show member pathways
9.3CALM1, CALM2, CALM3, RYR2
289.3CALM1, CALM2, CALM3, KCNJ2
29
Show member pathways
9.3CALM1, CALM2, CALM3, KCNJ2
309.0ATP2A2, CALM1, CALM2, CALM3
31
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3
32
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3
33
Show member pathways
9.0CALM1, CALM2, CALM3, RYR1, RYR2
34
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3, RYR2
35
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3, RYR2
36
Show member pathways
8.7CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
37
Show member pathways
8.7CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
388.6ATP2A2, CALM1, CALR, RYR1
398.5ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
40
Show member pathways
8.5ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
418.2ATP2A2, CALM1, CALM2, CALM3, KCNH2, KCNJ2
427.8ANK2, ATP2A2, CASQ2, FKBP1B, KCNH2, KCNJ2
43
Show member pathways
7.4ATP2A2, CALM1, CALM2, CALM3, CALR, CASQ2
44
Show member pathways
7.2ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
45
Show member pathways
7.2ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
46
Show member pathways
6.3ASPH, 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
1junctional membrane complexGO:003031410.3CASQ2, RYR1, TRDN
2T-tubuleGO:003031510.2ANK2, KCNJ2, RYR1
3spindle microtubuleGO:000587610.1CALM1, CALM2, CALM3
4junctional sarcoplasmic reticulum membraneGO:001470110.1CASQ2, RYR1, RYR2, TRDN
5spindle poleGO:000092210.0CALM1, CALM2, CALM3
6sarcomereGO:003001710.0CALM1, CALM2, CALM3, RYR2
7vesicleGO:003198210.0CALM1, CALM2, CALM3
8sarcoplasmic reticulum lumenGO:00330189.8CALR, CASQ2, TRDN
9growth coneGO:00304269.7CALM1, CALM2, CALM3
10Z discGO:00300189.4ANK2, CASQ2, FKBP1B, RYR2
11intercalated discGO:00147049.4ANK2, DSG2, KCNJ2
12calcium channel complexGO:00347049.3CALM1, CALM2, CALM3, CASQ2, FKBP1B, RYR2
13smooth endoplasmic reticulumGO:00057909.3CALR, KCNJ2, RYR1, RYR2
14voltage-gated potassium channel complexGO:00080768.9CALM1, CALM2, CALM3, KCNH2, KCNJ2
15sarcoplasmic reticulum membraneGO:00330178.3ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
16sarcoplasmic reticulumGO:00165298.1ATP2A2, CALR, 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 all 50)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.6CASQ2, RYR2
2regulation of atrial cardiac muscle cell action potentialGO:009891010.6ANK2, RYR2
3regulation of SA node cell action potentialGO:009890710.6ANK2, RYR2
4positive regulation of sequestering of calcium ionGO:005128410.5FKBP1B, RYR2
5cellular response to caffeineGO:007131310.3CASQ2, RYR1, RYR2
6T-tubule organizationGO:003329210.2ANK2, ATP2A2
7positive regulation of phosphoprotein phosphatase activityGO:003251610.1CALM1, CALM2, CALM3
8positive regulation of cyclic nucleotide metabolic processGO:003080110.1CALM1, CALM2, CALM3
9positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.1CALM1, CALM2, CALM3
10inositol phosphate metabolic processGO:004364710.1CALM1, CALM2, CALM3
11regulation of high voltage-gated calcium channel activityGO:190184110.1CALM1, CALM2, CALM3
12positive regulation of protein autophosphorylationGO:003195410.1CALM1, CALM2, CALM3
13regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.1CALM1, CALM2, CALM3
14positive regulation of DNA bindingGO:004338810.1CALM1, CALM2, CALM3
15regulation of cytokinesisGO:003246510.1CALM1, CALM2, CALM3
16positive regulation of peptidyl-threonine phosphorylationGO:001080010.1CALM1, CALM2, CALM3
17regulation of rhodopsin mediated signaling pathwayGO:002240010.0CALM1, CALM2, CALM3
18substantia nigra developmentGO:002176210.0CALM1, CALM2, CALM3
19glycogen catabolic processGO:000598010.0CALM1, CALM2, CALM3
20response to corticosteroneGO:005141210.0CALM1, CALM2, CALM3
21regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.0ANK2, ATP2A2, RYR2
22positive regulation of protein serine/threonine kinase activityGO:007190210.0CALM1, CALM2, CALM3
23regulation of membrane repolarizationGO:006030610.0CASQ2, KCNH2, KCNJ2
24calcium-mediated signalingGO:001972210.0CALM2, CALM3, RYR2
25sarcoplasmic reticulum calcium ion transportGO:007029610.0ANK2, ATP2A2, RYR2
26Wnt signaling pathway, calcium modulating pathwayGO:000722310.0CALM1, CALM2, CALM3
27ventricular cardiac muscle cell action potentialGO:008600510.0ANK2, KCNH2, RYR2
28regulation of cytosolic calcium ion concentrationGO:005148010.0FKBP1B, RYR1, RYR2
29positive regulation of protein dephosphorylationGO:00353079.9CALM1, CALM2, CALM3
30regulation of nitric-oxide synthase activityGO:00509999.9CALM1, CALM2, CALM3
31positive regulation of nitric-oxide synthase activityGO:00510009.9CALM1, CALM2, CALM3
32negative regulation of peptidyl-threonine phosphorylationGO:00108019.9CALM1, CALM2, CALM3
33positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.9CALM1, CALM2, CALM3, TRDN
34release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8FKBP1B, RYR1, RYR2, TRDN
35cardiac muscle contractionGO:00600489.8CASQ2, KCNH2, RYR2
36activation of adenylate cyclase activityGO:00071909.7CALM1, CALM2, CALM3
37regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.7CALM2, CALM3, FKBP1B
38detection of calcium ionGO:00055139.6CALM1, CALM2, CALM3, CASQ2, RYR2
39response to amphetamineGO:00019759.6CALM1, CALM2, CALM3
40regulation of cardiac muscle contractionGO:00551179.6ANK2, CALM1, CALM2, CALM3, RYR2
41release of sequestered calcium ion into cytosolGO:00512099.5FKBP1B, RYR1, RYR2
42negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.1CALM1, CALM2, CALM3, CASQ2, FKBP1B, TRDN
43regulation of heart rate by cardiac conductionGO:00860919.0ANK2, DSG2, KCNH2, KCNJ2
44regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.9CALM1, CALM2, CALM3, CASQ2, FKBP1B, TRDN
45regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.6ANK2, CALM1, CALM2, CALM3, CASQ2, FKBP1B
46muscle contractionGO:00069368.6ASPH, CALM1, CALM2, CALM3, RYR1, TRDN
47regulation of heart rateGO:00020278.3ANK2, CALM1, CALM2, CALM3, CASQ2, FKBP1B
48regulation of cardiac conductionGO:19037798.2ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
49cellular calcium ion homeostasisGO:00068748.0ANK2, ATP2A2, CALR, RYR2, TRDN
50ion transmembrane transportGO:00342207.3ASPH, 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:001527810.7RYR1, RYR2
2voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:008600810.5KCNH2, KCNJ2
3inward rectifier potassium channel activityGO:000524210.5KCNH2, 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
8protein phosphatase activator activityGO:007254210.3CALM1, CALM2, CALM3
9N-terminal myristoylation domain bindingGO:003199710.3CALM1, CALM2, CALM3
10titin bindingGO:003143210.3CALM1, CALM2, CALM3
11thioesterase bindingGO:003199610.3CALM1, CALM2, CALM3
12protein serine/threonine kinase activator activityGO:004353910.3CALM1, CALM2, CALM3
13ryanodine-sensitive calcium-release channel activityGO:000521910.2FKBP1B, RYR1, RYR2
14phosphatidylinositol 3-kinase bindingGO:004354810.2CALM1, CALM2, CALM3
15phospholipase bindingGO:004327410.2CALM1, CALM2, CALM3
16ligand-gated ion channel activityGO:001527610.1CALM1, CALM2, CALM3
17Ras guanyl-nucleotide exchange factor activityGO:000508810.1CALM1, CALM2, CALM3
18enzyme regulator activityGO:003023410.1CALM2, CALM3
19nitric-oxide synthase bindingGO:005099810.0CALM1, CALM2, CALM3
20calcium-dependent protein bindingGO:00483069.8CALM1, CALM2, CALM3, CASQ2
21enzyme bindingGO:00198999.3ANK2, ATP2A2, RYR1, RYR2
22protein kinase bindingGO:00199019.3ANK2, CALM1, CALM2, CALM3, RYR2
23ion channel bindingGO:00443258.8ANK2, CALM1, CALM2, CALM3, FKBP1B, RYR2
24calcium ion bindingGO:00055096.4ASPH, ATP2A2, CALM1, CALM2, CALM3, CALR
25protein bindingGO:00055154.9ANK2, ASPH, ATP2A2, CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet