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 48 24 25 54 27 35
Catecholamine-Induced Polymorphic Ventricular Tachycardia 23 48 24 25
Familial Polymorphic Ventricular Tachycardia 48 24 25
Cpvt 23 25 54
Stress-Induced Polymorphic Ventricular Tachycardia 48 68
Bidirectional Tachycardia Induced by Catecholamine 48 54
Malignant Paroxysmal Ventricular Tachycardia 48 54
Double Tachycardia Induced by Catecholamines 48 54
Multifocal Ventricular Premature Beats 48 54
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 68
 
Ventricular Tachycardia, Catecholaminergic Polymorphic 50
Bidirectional Tachycardia Induced by Catecholamines 25
Polymorphic Catecholergic Ventricular Tachycardia 48
Ventricular Tachycardia, Familial Polymorphic 50
Multifocal Premature Ventricular Beats 68
Familial Ventricular Tachycardia 68
Syncopal Paroxysmal Tachycardia 48
Multifocal Pvcs 68
Fpvt 25
Cvpt 48

Characteristics:

Orphanet epidemiological data:

54
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Penetrance: the mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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
ICD1030 I47.2
Orphanet54 ORPHA3286
ICD10 via Orphanet31 I47.2

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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NIH Rare Diseases:48 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 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 Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. 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.

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:71 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 & Phenotypes for Catecholaminergic Polymorphic Ventricular Tachycardia

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Human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

 64 54
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertigo64 54 typical (50%) Frequent (79-30%) HP:0002321
2 sudden cardiac death64 54 occasional (7.5%) Occasional (29-5%) HP:0001645
3 syncope54 Occasional (29-5%)
4 ventricular tachycardia54 Very frequent (99-80%)

UMLS symptoms related to Catecholaminergic Polymorphic Ventricular Tachycardia:


seizures, syncope

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.1ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2
2MP:00053696.2ASPH, ATP2A2, CALR, CASQ2, FKBP1B, KCNH2

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 Tachycardia27 24 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

36
Heart, Testes

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
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. (28084961)
2017
2
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. (27988446)
2017
3
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. (27838126)
2017
4
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. (27861184)
2017
5
Current topics in catecholaminergic polymorphic ventricular tachycardia. (27761157)
2016
6
Catecholaminergic Polymorphic Ventricular Tachycardia as the Etiology of Emergency Medical Services-Reported Traumatic Arrest. (27668923)
2016
7
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? (27659101)
2016
8
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
9
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. (27523319)
2016
10
Catecholaminergic Polymorphic Ventricular Tachycardia in Pregnancy. (26959204)
2016
11
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. (27157848)
2016
12
Catecholaminergic polymorphic ventricular tachycardia: An exciting new era. (27212848)
2016
13
Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children. (27256466)
2016
14
Catecholaminergic Polymorphic Ventricular Tachycardia. (27180891)
2016
15
Integration of 60 000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia associated variants. (27538377)
2016
16
The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia. (27403293)
2016
17
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor?a88- Reply. (27840380)
2016
18
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. (27711080)
2016
19
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. (27282903)
2016
20
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
21
Efficacy of bilateral thoracoscopic sympathectomy in a patient with catecholaminergic polymorphic ventricular tachycardia. (26949433)
2016
22
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia. (27909533)
2016
23
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. (26948768)
2016
24
Questioning flecainide's mechanism of action in the treatment of catecholaminergic polymorphic ventricular tachycardia. (27800620)
2016
25
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
26
Nebivolol Suppresses Cardiac Ryanodine Receptor Mediated Spontaneous Ca2+ Release and Catecholaminergic Polymorphic Ventricular Tachycardia. (27623776)
2016
27
Catecholaminergic Polymorphic Ventricular Tachycardia. (26920200)
2016
28
Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811283)
2016
29
A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses. (27491078)
2016
30
Constitutive Intracellular Na+ Excess in Purkinje Cells Promotes Arrhythmogenesis at Lower Levels of Stress than Ventricular Myocytes from Mice with Catecholaminergic Polymorphic Ventricular Tachycardia. (27169737)
2016
31
Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. (27225049)
2016
32
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. (27646203)
2016
33
Catecholaminergic polymorphic ventricular tachycardia associated with sinus node dysfunction and junctional rhythm: Case report and literature review. (27539163)
2016
34
Letter by PatanA" Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811281)
2016
35
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor? (27840378)
2016
36
Teenage pregnancy with catecholaminergic polymorphic ventricular tachycardia and documented ICD discharges. (27099728)
2016
37
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutationsa88- Long-Term Prognosis After Initiation of Medical Treatment. (27452199)
2016
38
Letter by Gow Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811282)
2016
39
Catecholaminergic polymorphic ventricular tachycardia: disease with different faces. (26082524)
2015
40
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. (26018045)
2015
41
Sudden Cardiac Arrest During Sex in Patients with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Long-QT Syndrome: A Rare But Shocking Experience. (25514987)
2015
42
Thoracoscopic Left Cardiac Sympathetic Denervation for a Patient with Catecholaminergic Polymorphic Ventricular Tachycardia and Recurrent Implantable Cardioverter-Defibrillator Shocks. (26078933)
2015
43
Catecholaminergic Polymorphic Ventricular Tachycardia with QT Prolongation. (26256814)
2015
44
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
45
Catecholaminergic Polymorphic Ventricular Tachycardia in Children: An Analysis of Therapeutic Strategies and Outcomes from an International Multicenter Registry. (25713214)
2015
46
A new mutation in the ryanodine receptor 2 gene (RYR2 C2277R) as a cause catecholaminergic polymorphic ventricular tachycardia. (25435091)
2015
47
Beta-blockers in the treatment of catecholaminergic polymorphic ventricular tachycardia. (26484788)
2015
48
Left Cardiac Sympathetic Denervation in Patients with CASQ2-Associated Catecholaminergic Polymorphic Ventricular Tachycardia. (26625541)
2015
49
Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function. (25775566)
2015
50
Flecainide monotherapy for catecholaminergic polymorphic ventricular tachycardia: Perspectives and limitations. (26498259)
2015

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 top 50)    (show all 57)
idSuper pathwaysScoreTop Affiliating Genes
19.7ATP2A2, RYR2
29.6ATP2A2, RYR1
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
119.6CALM1, CALM2, CALM3
129.6CALM1, CALM2, CALM3
13
Show member pathways
9.6CALM1, 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
179.6CALM1, CALM2, CALM3
18
Show member pathways
9.6CALM1, CALM2, CALM3
199.6CALM1, CALM2, CALM3
20
Show member pathways
9.6CALM1, CALM2, CALM3
219.6CALM1, CALM2, CALM3
22
Show member pathways
9.6CALM1, CALM2, CALM3
23
Show member pathways
9.6CALM1, CALM2, CALM3
249.6CALM1, CALM2, CALM3
259.6CALM1, CALM2, CALM3
26
Show member pathways
9.6CALM1, CALM2, CALM3
279.6CALM1, CALM2, CALM3
289.6CALM1, CALM2, CALM3
299.6CALM1, CALM2, CALM3
30
Show member pathways
9.6CALM1, CALM2, CALM3
319.6CALM1, CALM2, CALM3
329.6CALM1, CALM2, CALM3
339.6CALM1, CALM2, CALM3
349.6CALM1, CALM2, CALM3
35
Show member pathways
9.3CALM1, CALM2, CALM3, RYR2
369.3CALM1, CALM2, CALM3, KCNJ2
37
Show member pathways
9.3CALM1, CALM2, CALM3, KCNJ2
389.1CALR, RYR1, RYR2
39
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3
40
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3
419.0ATP2A2, CALM1, CALM2, CALM3
42
Show member pathways
9.0CALM1, CALM2, CALM3, RYR1, RYR2
43
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3, RYR2
44
Show member pathways
8.8ATP2A2, CALM1, CALM2, CALM3, RYR2
45
Show member pathways
8.7CALM1, CALM2, CALM3, KCNH2, KCNJ2
46
Show member pathways
8.7CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
47
Show member pathways
8.7CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
488.6ATP2A2, CALM1, CALR, RYR1
49
Show member pathways
8.5ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
50
Show member pathways
8.5ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2

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:003031410.4CASQ2, RYR1, TRDN
2growth coneGO:003042610.4CALM1, CALM2, CALM3
3spindle microtubuleGO:000587610.2CALM1, CALM2, CALM3
4intercalated discGO:001470410.2ANK2, DSG2, KCNJ2
5junctional sarcoplasmic reticulum membraneGO:001470110.2CASQ2, RYR1, RYR2, TRDN
6spindle poleGO:000092210.2CALM1, CALM2, CALM3
7vesicleGO:003198210.2CALM1, CALM2, CALM3
8T-tubuleGO:003031510.1ANK2, KCNJ2, RYR1
9sarcomereGO:003001710.0CALM1, CALM2, CALM3, RYR2
10sarcoplasmic reticulum lumenGO:00330189.8CALR, CASQ2, TRDN
11smooth endoplasmic reticulumGO:00057909.5CALR, KCNJ2, RYR1, RYR2
12calcium channel complexGO:00347049.4CALM1, CALM2, CALM3, CASQ2, FKBP1B, RYR2
13voltage-gated potassium channel complexGO:00080769.3CALM1, CALM2, CALM3, KCNH2, KCNJ2
14Z discGO:00300189.2ANK2, CASQ2, FKBP1B, RYR2
15sarcoplasmic reticulum membraneGO:00330178.5ASPH, ATP2A2, CASQ2, FKBP1B, RYR1, RYR2
16sarcoplasmic reticulumGO:00165298.3ATP2A2, CALR, CASQ2, FKBP1B, RYR1, RYR2
17plasma membraneGO:00058867.2ANK2, 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
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.7CASQ2, RYR2
2regulation of cell communication by electrical couplingGO:001064910.6CASQ2, TRDN
3regulation of atrial cardiac muscle cell action potentialGO:009891010.6ANK2, RYR2
4calcium-mediated signaling using intracellular calcium sourceGO:003558410.5FKBP1B, RYR2
5cell communication by electrical coupling involved in cardiac conductionGO:008606410.5FKBP1B, RYR2
6regulation of release of sequestered calcium ion into cytosolGO:005127910.5ANK2, TRDN
7regulation of SA node cell action potentialGO:009890710.5ANK2, RYR2
8response to caffeineGO:003100010.5RYR1, RYR2
9regulation of cardiac muscle cell contractionGO:008600410.5ANK2, KCNJ2
10positive regulation of sequestering of calcium ionGO:005128410.5FKBP1B, RYR2
11regulation of ventricular cardiac muscle cell action potentialGO:009891110.5DSG2, RYR2
12positive regulation of heart rateGO:001046010.4ATP2A2, RYR2
13cellular response to caffeineGO:007131310.4CASQ2, RYR1, RYR2
14regulation of cardiac muscle cell membrane potentialGO:008603610.4ATP2A2, TRDN
15membrane repolarization during action potentialGO:008601110.4KCNH2, KCNJ2
16membrane repolarization during cardiac muscle cell action potentialGO:008601310.4KCNH2, KCNJ2
17positive regulation of potassium ion transmembrane transportGO:190138110.3KCNH2, KCNJ2
18calcium-mediated signalingGO:001972210.3CALM2, CALM3, RYR2
19response to redox stateGO:005177510.3FKBP1B, RYR2
20activation of adenylate cyclase activityGO:000719010.3CALM1, CALM2, CALM3
21Fc-epsilon receptor signaling pathwayGO:003809510.3CALM1, CALM2, CALM3
22G2/M transition of mitotic cell cycleGO:000008610.3CALM1, CALM2, CALM3
23glycogen catabolic processGO:000598010.3CALM1, CALM2, CALM3
24inositol phosphate metabolic processGO:004364710.3CALM1, CALM2, CALM3
25relaxation of cardiac muscleGO:005511910.3ATP2A2, KCNJ2
26negative regulation of peptidyl-threonine phosphorylationGO:001080110.3CALM1, CALM2, CALM3
27platelet degranulationGO:000257610.3CALM1, CALM2, CALM3
28positive regulation of cyclic nucleotide metabolic processGO:003080110.3CALM1, CALM2, CALM3
29positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.3CALM1, CALM2, CALM3
30positive regulation of DNA bindingGO:004338810.3CALM1, CALM2, CALM3
31positive regulation of nitric-oxide synthase activityGO:005100010.3CALM1, CALM2, CALM3
32positive regulation of peptidyl-threonine phosphorylationGO:001080010.3CALM1, CALM2, CALM3
33positive regulation of phosphoprotein phosphatase activityGO:003251610.3CALM1, CALM2, CALM3
34positive regulation of protein autophosphorylationGO:003195410.3CALM1, CALM2, CALM3
35positive regulation of protein dephosphorylationGO:003530710.2CALM1, CALM2, CALM3
36positive regulation of protein serine/threonine kinase activityGO:007190210.2CALM1, CALM2, CALM3
37regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.2CALM1, CALM2, CALM3
38regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.2ANK2, KCNH2
39regulation of cytokinesisGO:003246510.2CALM1, CALM2, CALM3
40regulation of high voltage-gated calcium channel activityGO:190184110.2CALM1, CALM2, CALM3
41regulation of nitric-oxide synthase activityGO:005099910.2CALM1, CALM2, CALM3
42cardiac muscle contractionGO:006004810.2CASQ2, KCNH2, RYR2
43regulation of rhodopsin mediated signaling pathwayGO:002240010.2CALM1, CALM2, CALM3
44response to amphetamineGO:000197510.2CALM1, CALM2, CALM3
45calcium ion transportGO:000681610.1ATP2A2, RYR1, RYR2
46regulation of cytosolic calcium ion concentrationGO:005148010.1FKBP1B, RYR1, RYR2
47response to calcium ionGO:005159210.1CALM1, CALM2, CALM3
48response to corticosteroneGO:005141210.1CALM1, CALM2, CALM3
49T-tubule organizationGO:003329210.1ANK2, ATP2A2
50release of sequestered calcium ion into cytosolGO:005120910.1FKBP1B, RYR1, RYR2

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
2enzyme regulator activityGO:003023410.6CALM2, CALM3
3inward rectifier potassium channel activityGO:000524210.5KCNH2, KCNJ2
4adenylate cyclase bindingGO:000817910.4CALM1, CALM2, CALM3
5inositol-1,4,5-trisphosphate 3-kinase activityGO:000844010.4CALM1, CALM2, CALM3
6ligand-gated ion channel activityGO:001527610.4CALM1, CALM2, CALM3
7N-terminal myristoylation domain bindingGO:003199710.4CALM1, CALM2, CALM3
8nitric-oxide synthase bindingGO:005099810.4CALM1, CALM2, CALM3
9nitric-oxide synthase regulator activityGO:003023510.4CALM1, CALM2, CALM3
10phosphatidylinositol 3-kinase bindingGO:004354810.4CALM1, CALM2, CALM3
11phospholipase bindingGO:004327410.4CALM1, CALM2, CALM3
12protein phosphatase activator activityGO:007254210.1CALM1, CALM2, CALM3
13protein serine/threonine kinase activator activityGO:004353910.1CALM1, CALM2, CALM3
14calcium-dependent protein bindingGO:004830610.1CALM1, CALM2, CALM3, CASQ2
15Ras guanyl-nucleotide exchange factor activityGO:000508810.0CALM1, CALM2, CALM3
16thioesterase bindingGO:00319969.9CALM1, CALM2, CALM3
17ryanodine-sensitive calcium-release channel activityGO:00052199.9FKBP1B, RYR1, RYR2
18enzyme bindingGO:00198999.9ANK2, ATP2A2, RYR1, RYR2
19titin bindingGO:00314329.8CALM1, CALM2, CALM3
20type 3 metabotropic glutamate receptor bindingGO:00318009.7CALM1, CALM2, CALM3
21voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:00860089.7KCNH2, KCNJ2
22protein kinase bindingGO:00199019.6ANK2, CALM1, CALM2, CALM3, RYR2
23ion channel bindingGO:00443259.1ANK2, CALM1, CALM2, CALM3, FKBP1B, RYR2
24calcium ion bindingGO:00055097.2ASPH, ATP2A2, CALM1, CALM2, CALM3, CALR
25protein bindingGO:00055155.6ANK2, ASPH, ATP2A2, CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet