CPVT
MCID: CTC001
MIFTS: 60

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) 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 13 35
Catecholamine-Induced Polymorphic Ventricular Tachycardia 23 48 24 25
Familial Polymorphic Ventricular Tachycardia 48 24 25
Cpvt 23 25 54
Bidirectional Tachycardia Induced by Catecholamine 48 54
Stress-Induced Polymorphic Ventricular Tachycardia 48 68
Double Tachycardia Induced by Catecholamines 48 54
Malignant Paroxysmal Ventricular Tachycardia 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
Cvpt 48
Fpvt 25

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Penetrance: the mean penetrance of ryr2 pathogenic variants is 83% [author, unpublished data].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 catecholaminergic polymorphic ventricular tachycardia 5 and calm1-related catecholaminergic polymorphic ventricular tachycardia, and has symptoms including seizures, seizures and syncope. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is TRDN (Triadin), and among its related pathways are Cell-type Dependent Selectivity of CCK2R Signaling and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include heart and testes, and related mouse phenotypes are homeostasis/metabolism and cardiovascular system.

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.

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: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 76)
idRelated DiseaseScoreTop Affiliating Genes
1catecholaminergic polymorphic ventricular tachycardia 512.5
2calm1-related catecholaminergic polymorphic ventricular tachycardia12.2
3casq2-related catecholaminergic polymorphic ventricular tachycardia12.2
4ryr2-related catecholaminergic polymorphic ventricular tachycardia12.2
5trdn-related catecholaminergic polymorphic ventricular tachycardia12.2
6ventricular tachycardia, catecholaminergic polymorphic, 312.0
7ventricular tachycardia, catecholaminergic polymorphic, 112.0
8ventricular tachycardia, catecholaminergic polymorphic, 211.9
9ventricular tachycardia, catecholaminergic polymorphic, 411.9
10cardiac arrhythmia, ankyrin-b-related11.2
11long qt syndrome10.5
12syncope10.4
13brugada syndrome10.3
14cardiac arrest10.3
15leukodystrophy, hypomyelinating, 210.3CASQ2, RYR1, RYR2
16atrial fibrillation10.2
17subclavian steal syndrome10.2CALM1, CALM2, CALM3
18leukemia, acute lymphoblastic 210.2CALM1, CALM2, CALM3
19neuropathy, hereditary sensory and autonomic, type ii10.2CALM1, CALM2, CALM3
20dumping syndrome10.2CALM1, CALM2, CALM3
21arthropathy10.2CALM1, CALM2, CALM3
22chronic dacryoadenitis10.2CALM1, CALM2, CALM3
23retinitis pigmentosa 2010.2CALM1, CALM2, CALM3
24regular astigmatism10.2CALM1, CALM2, CALM3
25aspiration pneumonia10.2CALM1, CALM2, CALM3
26lipodystrophy, familial partial, 210.2CALM1, CALM2, CALM3
27ciliary dyskinesia, primary, 1110.2CALM1, CALM2, CALM3
28congenital hypothyroidism10.2CALM1, CALM2, CALM3
29spastic paraplegia 47, autosomal recessive10.2CALM1, CASQ2, DSG2, RYR2
30microphthalmia with limb anomalies10.1ANK2, CALM1, CALM2, CALM3
31distal arthrogryposis10.1CALM1, CALM2, CALM3
32partial of retinal vein occlusion10.1CALM1, CALM2, CALM3
33neurofibroma10.1CALM1, CALM2, CALM3
34baraitser-winter syndrome 110.1KCNJ2, TECRL
35malignant hyperthermia susceptibility 510.1KCNJ2, RYR1, TRDN
36pervasive developmental disorder10.1DSG2, KCNH2, RYR2, TRDN
37cardiomyopathy10.1
38sudden cardiac death10.1
39segawa syndrome, recessive10.1CALR, RYR1, TRDN
40soft palate cancer10.1ASPH, CASQ1, RYR1, RYR2
41short stature with microcephaly and distinctive facies10.0CALM1, CALM2, CALM3, CD2AP
42bleeding disorder, platelet-type, 1510.0CALM1, CALM2, CALM3, DSG2, RYR2
43proximal renal tubular acidosis10.0KCNH2, KCNJ2, KCNQ1
44spastic paraplegia 29, autosomal dominant10.0KCNH2, KCNJ2, KCNQ1
45arrhythmogenic right ventricular cardiomyopathy9.9
46short qt syndrome9.9
47left ventricular noncompaction9.9
48epilepsy9.9
49malignant hyperthermia9.9
50cerebral creatine deficiency syndrome9.9KCNH2, KCNJ2, KCNQ1, TRDN

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:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 syncope64 54 Occasional (29-5%) HP:0001279
2 sudden cardiac death64 54 Occasional (29-5%) HP:0001645
3 vertigo64 54 Frequent (79-30%) HP:0002321
4 ventricular tachycardia64 54 Very frequent (99-80%) HP:0004756

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:00053766.9ASPH, ATP2A2, CALR, CASQ1, CASQ2, CD2AP
2MP:00053856.8ASPH, ATP2A2, CALR, CASQ2, CD2AP, FKBP1B
3MP:00053786.5ASPH, ATP2A2, CALR, CASQ1, CASQ2, CD2AP
4MP:00053695.9ASPH, ATP2A2, CALR, CASQ1, CASQ2, FKBP1B

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 24)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Atenololapproved10429122-68-72249
Synonyms:
( inverted question mark)-Atenolol
(+-)-4-(2-Hydroxy-3-isopropylaminopropoxy)phenylacetamide
(+-)-Atenolol
(+/-)-4-[2-Hydroxy-3-[(1-methylethyl)amino]propoxy]benzeneacetamide
(1)-2-(4-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
(?)-Atenolol
1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol
2-(4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl)acetamid
2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide
2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
2-[4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl]acetamide
2-[4-({2-hydroxy-3-[(1-methylethyl)amino]propyl}oxy)phenyl]acetamide
2-[4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl]acetamide
2-{4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl}acetamide
29122-68-7
4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide
4-[2 -Hydroxy-3 -(isopropylamino)-propoxy]phenylacetamide
4-[2'-Hydroxy-3'-(isopropylamino)propoxy]phenylacetamide
60966-51-0
A 7655
A7655_SIGMA
AC-11142
AC1L1D99
AC1Q1QBX
AKOS005111050
ARONIS23884
Acetamide,2-(p-(2-hydroxy-3-(isopropylamino)propoxy)phenyl)
Aircrit
Alinor
Altol
Anselol
Antipressan
Apo-Atenolol
Atcardil
Atecard
Atehexal
Atenblock
Atendol
Atenet
Ateni
Atenil
Atenol
Atenol 1A Pharma
Atenol 1A pharma
Atenol AL
Atenol Acis
Atenol Atid
Atenol CT
Atenol Cophar
Atenol Fecofar
Atenol GNR
Atenol Gador
Atenol Genericon
Atenol Heumann
Atenol MSD
Atenol NM Pharma
Atenol Nordic
Atenol PB
Atenol Quesada
Atenol Stada
Atenol Tika
Atenol Trom
Atenol Von CT
Atenol acis
Atenol ct
Atenol von ct
Atenol-Mepha
Atenol-Ratiopharm
Atenol-Wolff
Atenol-ratiopharm
Atenolin
Atenolol (JAN/USP)
Atenolol (JP15/USP/INN)
Atenolol [USAN:BAN:INN:JAN]
Atenolol [USAN:INN:BAN:JAN]
Atenololum
Atenololum [INN-Latin]
Atenomel
Atereal
Aterol
BB_SC-1519
BIM-0050109.0001
BRD-A20239487-001-02-5
BRN 2739235
BSPBio_002915
Betablok
Betacard
Betasyn
Betatop GE
Betatop Ge
Blocotenol
Blokium
CCRIS 4196
CHEBI:2904
CHEMBL24
CID2249
CPD000036768
Cardaxen
Cardiopress
Corotenol
Cuxanorm
D001262
D00235
DB00335
DivK1c_000057
Duraatenolol
Duratenol
 
EINECS 249-451-7
EINECS 262-544-7
EU-0100121
Evitocor
Farnormin
Felo-Bits
HMS1569L13
HMS1921H09
HMS2090I19
HMS2092D19
HMS500C19
HSDB 6526
Hipres
Hypoten
I01-3572
ICI 66,082
ICI 66082
ICI-66082
ICI66082
IDI1_000057
Ibinolo
InChI=1/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)
Internolol
Jenatenol
Juvental
KBio1_000057
KBio2_001844
KBio2_004412
KBio2_006980
KBio3_002415
KBioGR_000790
KBioSS_001844
L000116
LS-28557
LS-9707
Lo-Ten
Lo-ten
Lopac0_000121
Loten
Lotenal
MLS000069622
MLS001066372
MLS001074163
MLS001304038
MolPort-001-792-717
Myocord
NCGC00015007-07
NCGC00015007-13
NCGC00024566-03
NCGC00024566-04
NCGC00024566-05
NCGC00024566-06
NCGC00024566-07
NINDS_000057
Neatenol
Normalol
Normiten
Noten
Oprea1_448775
Oraday
Ormidol
Panapres
Plenacor
Premorine
Prenolol
Prenormine
Prinorm
SAM002564193
SMR000036768
SPBio_001482
SPECTRUM1501127
STK528649
Scheinpharm Atenol
Seles Beta
Seles beta
Selobloc
Serten
Servitenol
Spectrum2_001411
Spectrum3_001448
Spectrum4_000435
Spectrum5_001509
Spectrum_001364
Stermin
Tenidon
Teno-Basan
Teno-basan
Tenobloc
Tenoblock
Tenolol
Tenoprin
Tenoretic
Tenormin
Tenormin (TN)
Tenormine
Tenormine [French]
Tensimin
Tensotin
Tredol
UNII-50VV3VW0TI
Unibloc
Uniloc
Vascoten
Vericordin
Wesipin
Xaten
atenolol
benzeneacetamide, 4-[2'-hydroxy-3
duratenol
2
Nadololapproved2242200-33-939147
Synonyms:
(2R,3S)-5-(3-(tert-Butylamino)-2-hydroxypropoxy)-1,2,3,4-tetrahydronaphthalene-2,3-diol
(2R,3S)-5-({3-[(1,1-dimethylethyl)amino]-2-hydroxypropyl}oxy)-1,2,3,4-tetrahydronaphthalene-2,3-diol
(2R,3S)-5-[3-(tert-butylamino)-2-hydroxypropoxy]-1,2,3,4-tetrahydronaphthalene-2,3-diol
2,3-cis-1,2,3,4-Tetrahydro-5-((2-hydroxy-3-tert-butylamino)propoxy)-2,3-naphthalenediol
42200-33-9
5-(3-((1,1-Dimethylethyl)amino)-2-hydroxypropoxy)-1,2,3,4-tetrahydro-2,3-naphthalenediol
AC1L2151
AC1Q1MO3
AC1Q77IZ
Anabet
BRD-A87606379-001-03-4
BSPBio_003152
CCRIS 1048
CHEMBL649
CID39147
CPD000058975
Corgard
Corgard (TN)
Corgaretic
D00432
D009248
DB01203
DivK1c_000427
EINECS 255-706-3
HMS1570D17
HMS1922O05
HMS2093A15
HMS501F09
HSDB 6532
IDI1_000427
KBio1_000427
KBio2_002123
KBio2_004691
KBio2_007259
 
KBio3_002652
KBioGR_000765
KBioSS_002123
LS-94578
MLS000028580
MLS001148087
MolPort-003-666-474
NCGC00089811-02
NINDS_000427
Nadic
Nadolol (JP15/USP/INN)
Nadolol [USAN:BAN:INN:JAN]
Nadololum
Nadololum [INN-Latin]
Prestwick0_000818
Prestwick1_000818
Prestwick2_000818
Prestwick_108
SAM002264627
SMP1_000203
SMR000058975
SPBio_001392
SPBio_002636
SPECTRUM1503260
SQ 11725
SQ-11725
SQ11725
Solgol
Spectrum2_001546
Spectrum3_001586
Spectrum4_000193
Spectrum5_001255
Spectrum_001643
UNII-FEN504330V
VU0239635-6
nadolol
3
Metoprololapproved, investigational21237350-58-6, 51384-51-14171
Synonyms:
(+/-)-Metoprolol
(RS)-Metoprolol
1-(Isopropylamino)-3-(4-(2-methoxyethyl)phenoxy)propan-2-ol
1-(Isopropylamino)-3-(p-(2-methoxyethyl)phenoxy)-2-propanol
1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol
1-[(1-methylethyl)amino]-3-({4-[2-(methyloxy)ethyl]phenyl}oxy)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-(propan-2-ylamino)propan-2-ol
1-[4-(2-methoxyethyl)phenoxy]-3-propan-2-ylamino-propan-2-ol
3-[4-(2-methoxyethyl)phenoxy]-1-(propan-2-ylamino)propan-2-ol
37350-58-6
51384-51-1
54163-88-1
AB00053499
AC-19022
AC1L1HKM
AstraZeneca Brand of Metaoprolol Tartrate
AstraZeneca Brand of Seloken
BRD-A03623303-045-02-0
Beatrolol
Beloc
Beloc Duriles
Beloc-Duriles
BelocDuriles
Betaloc
Betaloc Astra
Betaloc-Astra
BetalocAstra
Betalok
C07202
CCRIS 4198
CGP 2175
CGP-2175
CGP2175
CHEBI:6904
CHEMBL13
CID4171
D008790
D02358
DB00264
DL-metoprolol
Dl-Metoprolol
Dutoprol
EINECS 253-483-7
EINECS 257-166-4
H 93 26
H 93-26
H 9326
 
HMS2090B15
HSDB 6531
I01-7125
I06-0125
Jsp006606
L000669
LOPRESSIDONE
LS-122450
Leiras Brand of Metoprolol Succinate or Metoprolol Tartrate
Lopresor
Lopresoretic
Lopressor
Lopressor HCT
Meijoprolol
Metohexal
Metoprolol
Metoprolol (USAN/INN)
Metoprolol Tartrate
Metoprolol [USAN:INN:BAN]
Metoprolol slow release
Metoprolol succinate
Metoprolol tartrate
Metoprololum
Metoprololum [INN-Latin]
Metroprolol
MolPort-005-938-039
NCGC00021148-02
NCGC00021148-03
NCGC00021148-04
Novartis Brand of Metprolol Tartrate
Preblok
Prelis
Presolol
Selo-Zok
Seloken
Seloken AstraZeneca Brand
Selopral
Seroken
Spesicor
Spesikor
TOPROL-XL
Tartrate, Metoprolol
Toprol
Toprol XL
Toprol-XL
UNII-GEB06NHM23
dl-Metoprolol
metoprolol
4
Propranololapproved, investigational228525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
InnoPranXL
 
Innopran XL
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
5
Atropineapproved, vet_approved1365908-99-6, 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
6Sodium Channel Blockers1593
7Adrenergic Agents5352
8Neurotransmitter Agents18340
9Adrenergic Antagonists1573
10Anti-Arrhythmia Agents3093
11Adrenergic beta-Antagonists1193
12Diuretics, Potassium Sparing1917
13Mydriatics811
14Muscarinic Antagonists1166
15Parasympatholytics1085
16Respiratory System Agents4997
17Cholinergic Antagonists1706
18Peripheral Nervous System Agents23689
19Adjuvants, Anesthesia1674
20Anesthetics9596
21Anti-Asthmatic Agents3488
22Autonomic Agents10150
23Bronchodilator Agents2965
24Cholinergic Agents3992

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 254)
idTitleAuthorsYear
1
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia. (27988446)
2017
2
Treatment of catecholaminergic polymorphic ventricular tachycardia in mice using novel RyR2-modifying drugs. (27838126)
2017
3
Efficacy of Flecainide in the Treatment of Catecholaminergic Polymorphic Ventricular Tachycardia: A Randomized Clinical Trial. (28492868)
2017
4
Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications. (28405885)
2017
5
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations. (28237968)
2017
6
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. (28158428)
2017
7
Viral delivered gene therapy to treat Catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models. (28336343)
2017
8
RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism. (28422759)
2017
9
Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. (27861184)
2017
10
Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. (28084961)
2017
11
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. (28404607)
2017
12
Efficacy of bilateral thoracoscopic sympathectomy in a patient with catecholaminergic polymorphic ventricular tachycardia. (26949433)
2016
13
Inherited catecholaminergic polymorphic ventricular tachycardia due to RYR2 mutation. (27225049)
2016
14
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
15
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
16
Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? (27659101)
2016
17
Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children. (27256466)
2016
18
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. (27157848)
2016
19
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia. (27909533)
2016
20
Long-Term Prognosis of Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Ryanodine Receptor (RYR2) Mutations. (27523319)
2016
21
Catecholaminergic polymorphic ventricular tachycardia: An exciting new era. (27212848)
2016
22
Catecholaminergic Polymorphic Ventricular Tachycardia as the Etiology of Emergency Medical Services-Reported Traumatic Arrest. (27668923)
2016
23
Nebivolol Suppresses Cardiac Ryanodine Receptor Mediated Spontaneous Ca2+ Release and Catecholaminergic Polymorphic Ventricular Tachycardia. (27623776)
2016
24
A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. (27646203)
2016
25
A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses. (27491078)
2016
26
Catecholaminergic Polymorphic Ventricular Tachycardia in Pregnancy. (26959204)
2016
27
Integration of 60 000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia associated variants. (27538377)
2016
28
Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811283)
2016
29
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor?a88- Reply. (27840380)
2016
30
Catecholaminergic Polymorphic Ventricular Tachycardia. (27180891)
2016
31
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
32
Letter by PatanA" Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811281)
2016
33
The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia. (27403293)
2016
34
Long-QT Syndrome, Brugada Syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia: A Tale of 3 Diseases. (27282903)
2016
35
Questioning flecainide's mechanism of action in the treatment of catecholaminergic polymorphic ventricular tachycardia. (27800620)
2016
36
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutationsa88- Long-Term Prognosis After Initiation of Medical Treatment. (27452199)
2016
37
Catecholaminergic Polymorphic Ventricular Tachycardia. (26920200)
2016
38
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
39
Current topics in catecholaminergic polymorphic ventricular tachycardia. (27761157)
2016
40
Catecholaminergic polymorphic ventricular tachycardia associated with sinus node dysfunction and junctional rhythm: Case report and literature review. (27539163)
2016
41
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia. (26948768)
2016
42
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia. (27711080)
2016
43
Teenage pregnancy with catecholaminergic polymorphic ventricular tachycardia and documented ICD discharges. (27099728)
2016
44
Letter by Gow Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation". (26811282)
2016
45
Management of Gene-Positive Catecholaminergic Polymorphic Ventricular Tachycardia: Are the Long Term Outcomes on Therapy Really So Poor? (27840378)
2016
46
Correction: Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models. (26230682)
2015
47
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. (26200674)
2015
48
Catecholaminergic Polymorphic Ventricular Tachycardia in Children: An Analysis of Therapeutic Strategies and Outcomes from an International Multicenter Registry. (25713214)
2015
49
Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models. (25955245)
2015
50
Catecholaminergic polymorphic ventricular tachycardia: a rare cause of recurrent syncope. (26512332)
2015

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_ 001035.2(RYR2): c.6737C> T (p.Ser2246Leu)SNVPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2CASQ2NM_ 001232.3(CASQ2): c.923C> T (p.Pro308Leu)SNVPathogenicrs139228801GRCh37Chr 1, 116247829: 116247829
3RYR2NM_ 001035.2(RYR2): c.1258C> T (p.Arg420Trp)SNVPathogenicrs190140598GRCh38Chr 1, 237445488: 237445488
4RYR2NM_ 001035.2(RYR2): c.7159G> A (p.Ala2387Thr)SNVLikely pathogenicrs794728753GRCh38Chr 1, 237640940: 237640940
5RYR2NM_ 001035.2(RYR2): c.11836G> A (p.Gly3946Ser)SNVPathogenicrs794728777GRCh37Chr 1, 237942026: 237942026
6RYR2NM_ 001035.2(RYR2): c.14311G> A (p.Val4771Ile)SNVPathogenic/ Likely pathogenicrs794728804GRCh38Chr 1, 237808913: 237808913
7RYR2NM_ 001035.2(RYR2): c.6916G> A (p.Val2306Ile)SNVPathogenicrs794728746GRCh37Chr 1, 237801780: 237801780
8CASQ2NM_ 001232.3(CASQ2): c.940-1G> TSNVLikely pathogenicrs876657635GRCh38Chr 1, 115702996: 115702996
9RYR2NM_ 001035.2(RYR2): c.(?_ 169)_ (273_ ?)del (p.(?))deletionPathogenic/ Likely pathogenicGRCh38Chr 1, 237330878: 237330982
10TRDNNM_ 006073.3(TRDN): c.1537+1G> ASNVLikely pathogenicrs189125299GRCh38Chr 6, 123279055: 123279055
11TRDNNM_ 006073.3(TRDN): c.1051+1G> ASNVLikely pathogenicrs535908547GRCh38Chr 6, 123438062: 123438062
12TRDNNM_ 006073.3(TRDN): c.618delG (p.Ala208Leufs)deletionPathogenicrs1060502114GRCh37Chr 6, 123825039: 123825039
13CASQ2NM_ 001232.3(CASQ2): c.235-2A> GSNVLikely pathogenicrs1060502164GRCh38Chr 1, 115744914: 115744914
14RYR2NM_ 001035.2(RYR2): c.12544G> C (p.Glu4182Gln)SNVLikely pathogenicrs397516508GRCh37Chr 1, 237947556: 237947556
15RYR2NM_ 001035.2(RYR2): c.506G> A (p.Arg169Gln)SNVPathogenic/ Likely pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
16CASQ2NM_ 001232.3(CASQ2): c.578_ 580delTCAinsAC (p.Ile193Asnfs)indelLikely pathogenicrs397516643GRCh37Chr 1, 116275548: 116275550

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 54)
idSuper pathwaysScoreTop Affiliating Genes
110.0RYR1, RYR2
29.8ATP2A2, RYR1
3
Show member pathways
9.8CALM1, CALM2, CALM3
49.8CALM1, CALM2, CALM3
5
Show member pathways
9.8CALM1, CALM2, CALM3
69.8CALM1, CALM2, CALM3
79.8CALM1, CALM2, CALM3
89.8CALM1, CALM2, CALM3
99.8CALM1, CALM2, CALM3
10
Show member pathways
9.8CALM1, CALM2, CALM3
119.8CALM1, CALM2, CALM3
129.8CALM1, CALM2, CALM3
139.8CALM1, CALM2, CALM3
149.8CALM1, CALM2, CALM3
15
Show member pathways
9.8CALM1, CALM2, CALM3
16
Show member pathways
9.8CALM1, CALM2, CALM3
17
Show member pathways
9.8CALM1, CALM2, CALM3
189.8CALM1, CALM2, CALM3
19
Show member pathways
9.8CALM1, CALM2, CALM3
20
Show member pathways
9.8CALM1, CALM2, CALM3
21
Show member pathways
9.8CALM1, CALM2, CALM3
229.8CALM1, CALM2, CALM3
239.8CALM1, CALM2, CALM3
249.8CALM1, CALM2, CALM3
25
Show member pathways
9.8CALM1, CALM2, CALM3
269.8CALM1, CALM2, CALM3
279.8CALM1, CALM2, CALM3
289.8CALM1, CALM2, CALM3
299.8CALM1, CALM2, CALM3
309.7ATP2A2, CALM1, CALM2
31
Show member pathways
9.6CALM1, CALM2, CALM3, RYR2
329.6CALM1, CALM2, CALM3, KCNJ2
33
Show member pathways
9.4ATP2A2, CALM1, CALM2, CALM3
34
Show member pathways
9.4ATP2A2, CALM1, CALM2, CALM3
35
Show member pathways
9.4CALM1, CALM2, CALM3, RYR1, RYR2
369.4CALM1, CALM2, CALM3, RYR1, RYR2
37
Show member pathways
9.3CALM1, CALM2, CALM3, CD2AP
389.3ATP2A2, CALM1, CALR, RYR1
39
Show member pathways
9.3ATP2A2, CALM1, CALM2, CALM3, RYR2
409.1ATP2A2, KCNQ1, RYR2
41
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
42
Show member pathways
9.0ATP2A2, CALM1, CALM2, CALM3, RYR1, RYR2
43
Show member pathways
8.8CALM1, CALM2, CALM3, KCNJ2, KCNQ1
448.5KCNH2, KCNQ1, RYR2, SCN5A
45
Show member pathways
8.4CALM1, CALM2, CALM3, KCNH2, KCNJ2, KCNQ1
46
Show member pathways
8.4CALM1, CALM2, CALM3, KCNQ1, SCN5A
47
Show member pathways
8.3CALM1, CALM2, CALM3, KCNJ2, KCNQ1, RYR1
48
Show member pathways
8.2ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
49
Show member pathways
8.2ASPH, ATP2A2, CALM1, CALM2, CALM3, FKBP1B
508.1ATP2A2, CALM1, CALM2, CALM3, KCNH2, KCNJ2

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 18)
idNameGO IDScoreTop Affiliating Genes
1junctional membrane complexGO:003031410.6CASQ2, RYR1, TRDN
2junctional sarcoplasmic reticulum membraneGO:001470110.5CASQ2, RYR1, RYR2, TRDN
3spindle microtubuleGO:000587610.4CALM1, CALM2, CALM3
4terminal cisternaGO:001480210.4CASQ1, RYR1
5sarcomereGO:003001710.3CALM1, CALM2, CALM3, RYR2
6calcium channel complexGO:003470410.0CALM1, CALM2, CALM3, CASQ2, FKBP1B, RYR2
7sarcoplasmic reticulum lumenGO:00330189.9CALR, CASQ1, CASQ2, TRDN
8sarcolemmaGO:00423839.8ANK2, CASQ1, SCN5A
9intercalated discGO:00147049.7ANK2, DSG2, KCNJ2, SCN5A
10voltage-gated potassium channel complexGO:00080769.6KCNH2, KCNJ2, KCNQ1
11smooth endoplasmic reticulumGO:00057909.6CALR, CASQ1, KCNJ2, RYR1, RYR2
12protein complexGO:00432349.5ATP2A2, CALR, CD2AP, RYR1, RYR2
13T-tubuleGO:00303159.2ANK2, CASQ1, KCNJ2, RYR1, SCN5A
14Z discGO:00300188.9ANK2, CASQ2, FKBP1B, RYR2, SCN5A
15sarcoplasmic reticulum membraneGO:00330178.9ASPH, ATP2A2, CASQ1, CASQ2, FKBP1B, RYR1
16sarcoplasmic reticulumGO:00165298.5ASPH, ATP2A2, CALR, CASQ1, CASQ2, FKBP1B
17endoplasmic reticulumGO:00057838.0ASPH, ATP2A2, CALR, CASQ1, KCNQ1, SCN5A
18plasma membraneGO:00058866.4ANK2, ASPH, CALM1, CALM2, CALM3, CD2AP

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

(show top 50)    (show all 77)
idNameGO IDScoreTop Affiliating Genes
1Purkinje myocyte to ventricular cardiac muscle cell signalingGO:008602910.8CASQ2, RYR2
2regulation of cell communication by electrical couplingGO:001064910.8CASQ2, TRDN
3cell communication by electrical coupling involved in cardiac conductionGO:008606410.8FKBP1B, RYR2
4regulation of atrial cardiac muscle cell action potentialGO:009891010.7ANK2, RYR2
5positive regulation of sequestering of calcium ionGO:005128410.7FKBP1B, RYR2
6regulation of release of sequestered calcium ion into cytosolGO:005127910.7ANK2, TRDN
7regulation of SA node cell action potentialGO:009890710.7ANK2, RYR2
8response to caffeineGO:003100010.7RYR1, RYR2
9regulation of ryanodine-sensitive calcium-release channel activityGO:006031410.6CALM1, FKBP1B
10regulation of cardiac muscle cell membrane potentialGO:008603610.6ATP2A2, TRDN
11cellular response to caffeineGO:007131310.6CASQ2, RYR1, RYR2
12glycogen catabolic processGO:000598010.6CALM1, CALM2, CALM3
13inositol phosphate metabolic processGO:004364710.6CALM1, CALM2, CALM3
14protein maturation by protein foldingGO:002241710.5CALR, FKBP1B
15response to redox stateGO:005177510.5FKBP1B, RYR2
16negative regulation of peptidyl-threonine phosphorylationGO:001080110.5CALM1, CALM2, CALM3
17positive regulation of cyclic nucleotide metabolic processGO:003080110.5CALM1, CALM2, CALM3
18positive regulation of cyclic-nucleotide phosphodiesterase activityGO:005134310.5CALM1, CALM2, CALM3
19positive regulation of peptidyl-threonine phosphorylationGO:001080010.5CALM1, CALM2, CALM3
20positive regulation of phosphoprotein phosphatase activityGO:003251610.5CALM1, CALM2, CALM3
21positive regulation of protein autophosphorylationGO:003195410.5CALM1, CALM2, CALM3
22positive regulation of protein dephosphorylationGO:003530710.5CALM1, CALM2, CALM3
23positive regulation of protein serine/threonine kinase activityGO:007190210.5CALM1, CALM2, CALM3
24protein polymerizationGO:005125810.5CASQ1, CASQ2
25protein methylationGO:000647910.5CALM1, CALM2, CALM3
26regulation of ventricular cardiac muscle cell action potentialGO:009891110.5DSG2, RYR2
27regulation of cell communication by electrical coupling involved in cardiac conductionGO:190184410.5CALM1, CALM2, CALM3
28regulation of cytokinesisGO:003246510.5CALM1, CALM2, CALM3
29relaxation of cardiac muscleGO:005511910.5ATP2A2, KCNJ2
30regulation of nitric-oxide synthase activityGO:005099910.5CALM1, CALM2, CALM3
31regulation of rhodopsin mediated signaling pathwayGO:002240010.5CALM1, CALM2, CALM3
32sequestering of calcium ionGO:005120810.5CALR, CASQ2
33regulation of cytosolic calcium ion concentrationGO:005148010.4FKBP1B, RYR1, RYR2
34response to calcium ionGO:005159210.4CALM1, CALM2, CALM3
35release of sequestered calcium ion into cytosolGO:005120910.4FKBP1B, RYR1, RYR2
36cardiac muscle cell action potential involved in contractionGO:008600210.4KCNJ2, SCN5A
37positive regulation of ryanodine-sensitive calcium-release channel activityGO:006031610.3CALM1, CALM2, CALM3, TRDN
38regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.3ANK2, ATP2A2, RYR2
39membrane depolarization during cardiac muscle cell action potentialGO:008601210.3KCNJ2, SCN5A
40membrane depolarization during SA node cell action potentialGO:008604610.3ANK2, SCN5A
41T-tubule organizationGO:003329210.3ANK2, ATP2A2
42substantia nigra developmentGO:002176210.3CALM1, CALM2, CALM3
43cellular response to epinephrine stimulusGO:007187210.2KCNQ1, RYR2
44detection of calcium ionGO:000551310.2CALM1, CALM2, CALM3, CASQ2, RYR2
45release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.2FKBP1B, RYR1, RYR2, TRDN
46sarcoplasmic reticulum calcium ion transportGO:007029610.2ANK2, ATP2A2, RYR2
47SA node cell action potentialGO:008601510.1ANK2, SCN5A
48regulation of cardiac muscle contractionGO:005511710.1ANK2, CALM1, CALM2, CALM3, RYR2
49membrane repolarization during ventricular cardiac muscle cell action potentialGO:009891510.1KCNH2, KCNQ1
50regulation of cardiac muscle cell contractionGO:008600410.0ANK2, KCNJ2, SCN5A

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1calcium-induced calcium release activityGO:004876310.8RYR1, RYR2
2calcium-release channel activityGO:001527810.8RYR1, RYR2
3inositol-1,4,5-trisphosphate 3-kinase activityGO:000844010.5CALM1, CALM2, CALM3
4ligand-gated ion channel activityGO:001527610.5CALM1, CALM2, CALM3
5N-terminal myristoylation domain bindingGO:003199710.5CALM1, CALM2, CALM3
6phospholipase bindingGO:004327410.5CALM1, CALM2, CALM3
7protein phosphatase activator activityGO:007254210.4CALM1, CALM2, CALM3
8protein serine/threonine kinase activator activityGO:004353910.4CALM1, CALM2, CALM3
9thioesterase bindingGO:003199610.4CALM1, CALM2, CALM3
10titin bindingGO:003143210.4CALM1, CALM2, CALM3
11nitric-oxide synthase bindingGO:005099810.3CALM1, SCN5A
12ryanodine-sensitive calcium-release channel activityGO:000521910.3FKBP1B, RYR1, RYR2
13protein kinase A catalytic subunit bindingGO:003423610.1KCNQ1, RYR2
14protein kinase A regulatory subunit bindingGO:003423710.1KCNQ1, RYR2
15protein domain specific bindingGO:00199049.9CALM1, CALM2, CALM3, SCN5A
16ion channel activityGO:00052169.8KCNH2, RYR1, RYR2, SCN5A
17enzyme bindingGO:00198999.5ANK2, ATP2A2, RYR1, RYR2, SCN5A
18protein kinase bindingGO:00199019.4ANK2, CALM1, CALM2, CALM3, RYR2, SCN5A
19voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022829.3KCNH2, KCNQ1
20calmodulin bindingGO:00055169.3KCNQ1, RYR1, RYR2, SCN5A
21voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:00860089.3KCNH2, KCNJ2, KCNQ1
22scaffold protein bindingGO:00971109.3KCNH2, KCNQ1, SCN5A
23voltage-gated ion channel activityGO:00052448.8KCNH2, KCNJ2, KCNQ1, SCN5A
24ion channel bindingGO:00443258.2ANK2, CALM1, CALM2, CALM3, FKBP1B, KCNQ1
25calcium ion bindingGO:00055098.0ASPH, ATP2A2, CALM1, CALM2, CALM3, CALR

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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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