MCID: VNT013
MIFTS: 53

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 54 29 13 69
Stress-Induced Polymorphic Ventricular Tachycardia 71 69
Bidirectional Tachycardia 71 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 71
Catecholaminergic Polymorphic Ventricular Tachycardia 1 12
Ventricular Tachycardia Catecholaminergic Polymorphic 1 71
Double Tachycardia Induced by Catecholamines 71
Malignant Paroxysmal Ventricular Tachycardia 71
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 71
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 71
Syncopal Paroxysmal Tachycardia 71
Tachycardia, Ventricular 42
Syncopal Tachyarythmia 71
Multifocal Pvcs 69
Cvpt1 12
Vtsip 71
Cpvt1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 1:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

OMIM : 54
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by Bhuiyan et al., 2007). (604772)

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, also known as stress-induced polymorphic ventricular tachycardia, is related to paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including seizures, atrial fibrillation and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Cardiac conduction and Vascular smooth muscle contraction. The drugs Atenolol and Metoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart and atrioventricular node, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the RYR2 gene on chromosome 1q43.

UniProtKB/Swiss-Prot : 71 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT1 inheritance is autosomal dominant.

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 paroxysmal ventricular fibrillation 12.2
2 bidirectional tachycardia 12.2
3 ventricular fibrillation, familial, 1 11.7
4 ventricular fibrillation, paroxysmal familial, 2 11.7
5 catecholaminergic polymorphic ventricular tachycardia 11.3
6 ventricular tachycardia, catecholaminergic polymorphic, 2 11.0
7 ventricular tachycardia, catecholaminergic polymorphic, 4 11.0
8 ulnar hemimelia, unilateral 10.6 DSG2 LMNA RYR2
9 ulnar hemimelia, bilateral 10.6 DSG2 LMNA RYR2
10 tibial hemimelia, bilateral 10.6 DSG2 LMNA RYR2
11 cardiac conduction disease with or without dilated cardiomyopathy 10.6 KCNH2 KCNQ1 SCN5A
12 hyperaldosteronism, familial, type iii 10.5 KCNH2 KCNQ1 SCN5A
13 acute poisoning by drugs with membrane-stabilizing effect 10.5 KCNH2 KCNJ2 KCNQ1
14 atrial standstill, digenic 10.5 DSG2 LMNA SCN5A
15 mental retardation, autosomal dominant 11 10.5 KCNH2 KCNQ1 SCN5A
16 mylk-related thoracic aortic aneurysms and aortic dissections 10.5 LMNA MYH7 SCN5A
17 sdccag8-related bardet-biedl syndrome 10.5 LMNA MYH7 SCN5A
18 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 10.5 LMNA MYH7 SCN5A
19 atrial fibrillation, familial, 3 10.5 KCNH2 KCNQ1 SCN5A
20 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.5 DSG2 MYH7 SCN5A
21 intellectual disability-cataracts-kyphosis syndrome 10.4 KCNH2 KCNJ2 KCNQ1 SCN5A
22 endocardium disease 10.4 NPPB SCN5A
23 cone dystrophy 10.3 KCNH2 KCNJ2 KCNQ1 SCN5A
24 brugada syndrome 1 10.3 ANK2 KCNH2 KCNQ1 SCN5A
25 lateral myocardial infarction 10.3 NPPB PIK3C2A
26 peroxisomal biogenesis disorders 10.3 ADRB1 MYH7 SCN5A
27 vitelliform macular dystrophy 10.3 KCNH2 KCNJ2 KCNQ1 SCN5A
28 dementia pugilistica 10.3 NPPB PIK3C2A
29 atrial fibrillation, familial, 10 10.2 KCNH2 KCNQ1 RYR2 SCN5A
30 arrhythmogenic right ventricular dysplasia 2 10.2 CASQ2 RYR1 RYR2
31 arthrogryposis, distal, type 2a 10.1 LMNA RYR1
32 lipodystrophy, familial partial, type 5 10.1 KCNJ2 SCN5A
33 urinary bladder posterior wall cancer 10.1 ACADVL NPPB PIK3C2A
34 vascular erectile tumor 10.1 KCNH2 KCNJ2 KCNQ1 NPPB SCN5A
35 velocardiofacial syndrome 10.0 PIK3C2A RYR1
36 myelodysplastic myeloproliferative cancer 10.0 PIK3C2A RYR1 RYR2
37 oropharynx cancer 10.0 PIK3C2A RYR1 RYR2
38 sick sinus syndrome 1 10.0 KCNH2 KCNQ1 NGF RYR2 SCN5A
39 sudden infant death syndrome 10.0 GJA1 LMNA MYH7 SCN5A
40 short qt syndrome 1 10.0 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
41 microcephaly and chorioretinopathy 1 9.9 LMNA MYH7 RYR1
42 syne1-related emery-dreifuss muscular dystrophy 9.9 ANK2 KCNH2 KCNJ2 KCNQ1 MYH7 SCN5A
43 eosinophilic variant of chromophobe renal cell carcinoma 9.8 LMNA PIK3C2A RYR1
44 craniosynostosis 9.8 ADRB1 MYH7 NPPB PIK3C2A
45 umbilical hernia 9.8 CASQ2 KCNQ1 PIK3C2A RYR2 SCN5A SLC25A20
46 keppen-lubinsky syndrome 9.8 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
47 zttk syndrome 9.8 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
48 jervell and lange-nielsen syndrome 9.8 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
49 pulmonary embolism 9.7
50 adult respiratory distress syndrome 9.7 ADRB1 NPPB PIK3C2A

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
left ventricular dilation (in some patients)
left ventricular dysfunction (in some patients)
atrial standstill (in some patients)
atrial fibrillation (in some patients)
atrioventricular node dysfunction (in some patients)
more
Neurologic- Central Nervous System:
seizures


Clinical features from OMIM:

604772

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 atrial fibrillation 32 occasional (7.5%) HP:0005110
3 syncope 32 HP:0001279
4 ventricular tachycardia 32 HP:0004756

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:


seizures, syncope

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 RYR1 RYR2 SCN5A ACADVL ADRB1 CASQ2
2 growth/size/body region MP:0005378 10.1 NGF OXT PIK3C2A RYR1 RYR2 SCN5A
3 homeostasis/metabolism MP:0005376 10.03 ACADVL ADRB1 CASQ2 FKBP1B GJA1 KCNH2
4 adipose tissue MP:0005375 9.91 ACADVL ADRB1 CASQ2 LMNA OXT PIK3C2A
5 mortality/aging MP:0010768 9.86 PIK3C2A RYR1 RYR2 SCN5A SLC25A20 ACADVL
6 muscle MP:0005369 9.47 ACADVL ADRB1 CASQ2 FKBP1B GJA1 KCNH2

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved 29122-68-7 2249
2
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
3
Nadolol Approved 42200-33-9 39147
4
Propranolol Approved, Investigational 525-66-6 4946
5
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
6 Adrenergic Agents
7 Adrenergic Antagonists
8 Adrenergic beta-Antagonists
9 Anti-Arrhythmia Agents
10 Diuretics, Potassium Sparing
11 Neurotransmitter Agents
12 Sodium Channel Blockers
13 Adjuvants, Anesthesia
14 Anesthetics
15 Anti-Asthmatic Agents
16 Autonomic Agents
17 Bronchodilator Agents
18 Cholinergic Agents
19 Cholinergic Antagonists
20 Muscarinic Antagonists
21 Mydriatics
22 Parasympatholytics
23 Peripheral Nervous System Agents
24 Respiratory System Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
2 Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia Completed NCT01117454 Flecainide Acetate;Placebo;Beta blocker
3 Genetic Markers of Cardiovascular Disease in Epilepsy Recruiting NCT02824822
4 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
5 Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Not yet recruiting NCT02927223 Atropine

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Cochrane evidence based reviews: tachycardia, ventricular

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 29

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

39
Heart, Atrioventricular Node

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

71 (show all 39)
id Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Ser2246Leu VAR_011396 rs121918597
3 RYR2 p.Pro2328Ser VAR_011397 rs121918603
4 RYR2 p.Asn2386Ile VAR_011398 rs121918601
5 RYR2 p.Arg2474Ser VAR_011399 rs121918598
6 RYR2 p.Asn4104Lys VAR_011400 rs121918599
7 RYR2 p.Gln4201Arg VAR_011401 rs121918605
8 RYR2 p.Arg4497Cys VAR_011402 rs121918600
9 RYR2 p.Val4653Phe VAR_011403 rs121918604
10 RYR2 p.Val2306Ile VAR_023694 rs794728746
11 RYR2 p.Pro4902Leu VAR_023695
12 RYR2 p.Arg4959Gln VAR_023696 rs794728811
13 RYR2 p.Pro164Ser VAR_044086
14 RYR2 p.Arg176Gln VAR_044087 rs794728708
15 RYR2 p.Arg414Leu VAR_044088
16 RYR2 p.Ile419Phe VAR_044089
17 RYR2 p.Arg420Trp VAR_044090 rs190140598
18 RYR2 p.Glu2311Asp VAR_044092 rs794728747
19 RYR2 p.Ala2387Pro VAR_044093
20 RYR2 p.Tyr2392Cys VAR_044094 rs772220753
21 RYR2 p.Ala2403Thr VAR_044095
22 RYR2 p.Thr2504Met VAR_044096 rs769219555
23 RYR2 p.Leu3778Phe VAR_044097
24 RYR2 p.Gly3946Ser VAR_044098 rs794728777
25 RYR2 p.Asn4097Ser VAR_044099 rs794728784
26 RYR2 p.Glu4146Lys VAR_044100
27 RYR2 p.Thr4158Pro VAR_044101
28 RYR2 p.Phe4499Cys VAR_044102
29 RYR2 p.Met4504Ile VAR_044103
30 RYR2 p.Ala4510Thr VAR_044104 rs397516510
31 RYR2 p.Ala4607Pro VAR_044105
32 RYR2 p.Gly4671Arg VAR_044106
33 RYR2 p.Val4771Ile VAR_044107 rs794728804
34 RYR2 p.Ile4848Val VAR_044108
35 RYR2 p.Ala4860Gly VAR_044109 rs121918606
36 RYR2 p.Ile4867Met VAR_044110
37 RYR2 p.Val4880Ala VAR_044111
38 RYR2 p.Asn4895Asp VAR_044112
39 RYR2 p.Glu4950Lys VAR_044113

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Pathogenic/Likely pathogenic rs786205418 GRCh37 Chromosome 15, 73635725: 73635726
2 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
3 RYR2 NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser) single nucleotide variant Pathogenic rs121918598 GRCh37 Chromosome 1, 237811823: 237811823
4 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh37 Chromosome 1, 237947324: 237947324
5 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
6 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh37 Chromosome 1, 237802368: 237802368
7 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh37 Chromosome 1, 237961337: 237961337
8 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh37 Chromosome 1, 237947614: 237947614
9 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh37 Chromosome 1, 237982481: 237982481
10 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
11 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh37 Chromosome 1, 237493979: 237495101
12 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
13 CALM1 NM_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
14 DSP NM_004415.3(DSP): c.2131_2132delAG (p.Ser711Cysfs) deletion Pathogenic/Likely pathogenic rs587782927 GRCh37 Chromosome 6, 7574319: 7574320
15 RYR2 NM_001035.2(RYR2): c.1847C> T (p.Ser616Leu) single nucleotide variant Likely pathogenic rs730880187 GRCh37 Chromosome 1, 237656273: 237656273
16 RYR2 NM_001035.2(RYR2): c.3271G> A (p.Glu1091Lys) single nucleotide variant Likely pathogenic rs730880191 GRCh37 Chromosome 1, 237729923: 237729923
17 RYR2 NM_001035.2(RYR2): c.12325A> G (p.Met4109Val) single nucleotide variant Likely pathogenic rs730880196 GRCh37 Chromosome 1, 237947337: 237947337
18 RYR2 NM_001035.2(RYR2): c.14726C> T (p.Thr4909Ile) single nucleotide variant Likely pathogenic rs730880201 GRCh37 Chromosome 1, 237993900: 237993900
19 RYR2 NM_001035.2(RYR2): c.527G> A (p.Arg176Gln) single nucleotide variant Pathogenic rs794728708 GRCh37 Chromosome 1, 237540686: 237540686
20 RYR2 NM_001035.2(RYR2): c.7202G> A (p.Arg2401His) single nucleotide variant Likely pathogenic rs794728756 GRCh37 Chromosome 1, 237804283: 237804283
21 RYR2 NM_001035.2(RYR2): c.14876G> A (p.Arg4959Gln) single nucleotide variant Pathogenic rs794728811 GRCh37 Chromosome 1, 237995919: 237995919
22 CASQ2 NM_001232.3(CASQ2): c.546delT (p.Phe182Leufs) deletion Likely pathogenic rs763955301 GRCh38 Chromosome 1, 115732961: 115732961
23 RYR2 NM_001035.2(RYR2): c.9688C> A (p.Gln3230Lys) single nucleotide variant Likely pathogenic rs886037908 GRCh37 Chromosome 1, 237870356: 237870356
24 RYR2 NM_001035.2(RYR2): c.13737C> A (p.His4579Gln) single nucleotide variant Likely pathogenic rs886037907 GRCh37 Chromosome 1, 237955578: 237955578

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 FKBP1B KCNH2 KCNJ2 KCNQ1 RYR1 RYR2
2
Show member pathways
12.37 ADRB1 KCNJ2 KCNQ1 MYH7 NPPB OXT
3
Show member pathways
12.22 ADRB1 CASQ2 GJA1 OXT RYR1 RYR2
4
Show member pathways
12.14 DSG2 GJA1 LMNA RYR2
5 11.85 GJA1 KCNH2 KCNQ1 NGF RYR2 SCN5A
6 11.11 ADRB1 ANK2 CASQ2 FKBP1B GJA1 KCNH2
7 10.82 GJA1 KCNJ2 KCNQ1
8 10.52 RYR1 RYR2

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sarcoplasmic reticulum GO:0016529 9.67 CASQ2 FKBP1B RYR1 RYR2
2 voltage-gated potassium channel complex GO:0008076 9.65 KCNH2 KCNJ2 KCNQ1
3 smooth endoplasmic reticulum GO:0005790 9.61 KCNJ2 RYR1 RYR2
4 calcium channel complex GO:0034704 9.58 CASQ2 FKBP1B RYR2
5 T-tubule GO:0030315 9.56 ANK2 KCNJ2 RYR1 SCN5A
6 junctional sarcoplasmic reticulum membrane GO:0014701 9.5 CASQ2 RYR1 RYR2
7 junctional membrane complex GO:0030314 9.46 CASQ2 RYR1
8 sarcoplasmic reticulum membrane GO:0033017 9.46 CASQ2 FKBP1B RYR1 RYR2
9 Z disc GO:0030018 9.43 ANK2 CASQ2 FKBP1B MYH7 RYR2 SCN5A
10 intercalated disc GO:0014704 9.02 ANK2 DSG2 GJA1 KCNJ2 SCN5A

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

(show all 50)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.98 CASQ2 FKBP1B GJA1 KCNQ1 RYR1 RYR2
2 regulation of ion transmembrane transport GO:0034765 9.94 KCNH2 KCNJ2 KCNQ1 SCN5A
3 muscle contraction GO:0006936 9.88 GJA1 MYH7 RYR1
4 cellular calcium ion homeostasis GO:0006874 9.88 ANK2 RYR1 RYR2
5 regulation of cardiac conduction GO:1903779 9.86 CASQ2 FKBP1B RYR1 RYR2
6 cardiac conduction GO:0061337 9.83 KCNH2 KCNJ2 KCNQ1 SCN5A
7 release of sequestered calcium ion into cytosol GO:0051209 9.79 FKBP1B RYR1 RYR2
8 regulation of cytosolic calcium ion concentration GO:0051480 9.79 FKBP1B RYR1 RYR2
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.76 ANK2 CASQ2 FKBP1B RYR2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.75 KCNH2 KCNJ2 KCNQ1
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.74 FKBP1B GJA1 RYR2
12 cardiac muscle contraction GO:0060048 9.73 CASQ2 KCNH2 KCNQ1 MYH7 RYR2 SCN5A
13 regulation of cardiac muscle cell contraction GO:0086004 9.72 ANK2 KCNJ2 SCN5A
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 KCNH2 KCNJ2 KCNQ1
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.71 ANK2 KCNH2 KCNQ1 SCN5A
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 KCNJ2 SCN5A
17 cellular response to epinephrine stimulus GO:0071872 9.7 KCNQ1 RYR2
18 positive regulation of renal sodium excretion GO:0035815 9.7 NPPB OXT
19 detection of calcium ion GO:0005513 9.69 CASQ2 RYR2
20 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.69 CASQ2 FKBP1B
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 KCNJ2 SCN5A
22 cellular response to caffeine GO:0071313 9.69 CASQ2 RYR1 RYR2
23 cellular response to mechanical stimulus GO:0071260 9.68 GJA1 KCNJ2
24 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.68 DSG2 RYR2
25 response to redox state GO:0051775 9.68 FKBP1B RYR2
26 response to caffeine GO:0031000 9.67 RYR1 RYR2
27 potassium ion export GO:0071435 9.67 KCNH2 KCNQ1
28 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.67 ANK2 RYR2
29 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.67 FKBP1B RYR1 RYR2
30 regulation of membrane repolarization GO:0060306 9.67 CASQ2 KCNH2 KCNJ2 KCNQ1
31 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.66 KCNH2 KCNQ1
32 response to peptide hormone GO:0043434 9.65 GJA1 OXT
33 SA node cell action potential GO:0086015 9.65 ANK2 SCN5A
34 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.65 KCNQ1 SCN5A
35 membrane repolarization during action potential GO:0086011 9.65 KCNH2 KCNJ2 KCNQ1
36 membrane depolarization during SA node cell action potential GO:0086046 9.64 ANK2 SCN5A
37 sarcoplasmic reticulum calcium ion transport GO:0070296 9.63 ANK2 RYR2
38 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
39 atrial cardiac muscle cell action potential GO:0086014 9.62 ANK2 GJA1 KCNQ1 SCN5A
40 regulation of atrial cardiac muscle cell action potential GO:0098910 9.61 ANK2 RYR2
41 regulation of SA node cell action potential GO:0098907 9.6 ANK2 RYR2
42 positive regulation of sequestering of calcium ion GO:0051284 9.59 FKBP1B RYR2
43 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.58 CASQ2 RYR2
44 ventricular cardiac muscle cell action potential GO:0086005 9.55 ANK2 KCNH2 KCNQ1 RYR2 SCN5A
45 regulation of heart rate by cardiac conduction GO:0086091 9.43 ANK2 DSG2 KCNH2 KCNJ2 KCNQ1 SCN5A
46 membrane repolarization GO:0086009 9.38 KCNQ1
47 regulation of heart rate GO:0002027 9.17 ANK2 CASQ2 FKBP1B MYH7 OXT RYR2
48 transport GO:0006810 10.31 GJA1 KCNH2 KCNJ2 KCNQ1 RYR1 RYR2
49 ion transport GO:0006811 10.14 KCNH2 KCNJ2 KCNQ1 RYR1 RYR2 SCN5A
50 transmembrane transport GO:0055085 10.1 GJA1 KCNH2 KCNQ1 RYR1 RYR2 SCN5A

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.67 KCNH2 KCNJ2 KCNQ1 SCN5A
2 calmodulin binding GO:0005516 9.65 KCNQ1 MYH7 RYR1 RYR2 SCN5A
3 ion channel activity GO:0005216 9.62 KCNH2 RYR1 RYR2 SCN5A
4 scaffold protein binding GO:0097110 9.61 KCNH2 KCNQ1 SCN5A
5 ion channel binding GO:0044325 9.55 ANK2 FKBP1B KCNQ1 RYR2 SCN5A
6 protein kinase A regulatory subunit binding GO:0034237 9.51 KCNQ1 RYR2
7 protein kinase A catalytic subunit binding GO:0034236 9.49 KCNQ1 RYR2
8 calcium-release channel activity GO:0015278 9.48 RYR1 RYR2
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNH2 KCNQ1
10 calcium-induced calcium release activity GO:0048763 9.4 RYR1 RYR2
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.13 KCNH2 KCNJ2 KCNQ1
12 ryanodine-sensitive calcium-release channel activity GO:0005219 8.8 FKBP1B RYR1 RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....