MCID: VNT035
MIFTS: 47

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 57 75
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 29 6 73
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 57 13 73
Stress-Induced Polymorphic Ventricular Tachycardia 75 73
Bidirectional Tachycardia 75 73
Cpvt1 57 75
Vtsip 57 75
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 40
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 57
Catecholaminergic Polymorphic Ventricular Tachycardia 1 12
Ventricular Tachycardia Catecholaminergic Polymorphic 1 75
Ventricular Tachycardia, Stress-Induced Polymorphic 57
Double Tachycardia Induced by Catecholamines 75
Malignant Paroxysmal Ventricular Tachycardia 75
Paroxysmal Familial Ventricular Fibrillation 73
Multifocal Ventricular Premature Beats 75
Multifocal Premature Ventricular Beats 73
Paroxysmal Ventricular Fibrillation 75
Syncopal Paroxysmal Tachycardia 75
Tachycardia, Ventricular 44
Syncopal Tachyarythmia 75
Multifocal Pvcs 73
Cvpt1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

OMIM : 57 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, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy, also known as catecholaminergic polymorphic ventricular tachycardia type 1, is related to ventricular fibrillation, paroxysmal familial, 1 and catecholaminergic polymorphic ventricular tachycardia, and has symptoms including seizures and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Affiliated tissues include heart and atrioventricular node, and related phenotypes are seizures and syncope

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 : 75 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, with...

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 30.6 DSP KCNH2 KCNQ1 RYR2 SCN5A
2 catecholaminergic polymorphic ventricular tachycardia 28.3 ANK2 CALM1 CASQ2 KCNH2 KCNJ2 RYR2
3 bidirectional tachycardia 12.4
4 paroxysmal ventricular fibrillation 12.4
5 ventricular fibrillation, paroxysmal familial, 2 11.8
6 ventricular tachycardia, catecholaminergic polymorphic, 2 11.8
7 ventricular tachycardia, catecholaminergic polymorphic, 4 11.4
8 arrhythmogenic right ventricular dysplasia, familial, 2 10.5 CASQ2 RYR2
9 arrhythmogenic right ventricular dysplasia, familial, 9 10.5 DSP RYR2
10 arrhythmogenic right ventricular dysplasia, familial, 8 10.4 DSP RYR2
11 long qt syndrome 14 10.1 ANK2 CALM1
12 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSG2 DSP RYR2
13 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSG2 DSP RYR2
14 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSG2 DSP RYR2
15 long qt syndrome 9 10.1 KCNJ2 SCN5A
16 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 DSG2 DSP RYR2
17 cardiomyopathy, dilated, 1e 9.9 DSP SCN5A
18 brugada syndrome 1 9.8 KCNH2 SCN5A
19 atrial standstill 1 9.7 DSG2 DSP SCN5A
20 familial isolated dilated cardiomyopathy 9.7 DSG2 SCN5A
21 paraneoplastic pemphigus 9.7 DSG2 DSP
22 deafness, autosomal dominant 2a 9.6 CALM1 KCNQ1
23 timothy syndrome 9.4 KCNH2 KCNQ1
24 familial short qt syndrome 9.3 KCNH2 KCNJ2 KCNQ1
25 short qt syndrome 9.2 KCNH2 KCNJ2 KCNQ1
26 long qt syndrome 13 9.0 KCNH2 KCNQ1 SCN5A
27 long qt syndrome 12 9.0 KCNH2 KCNQ1 SCN5A
28 left ventricular noncompaction 9.0 DSP KCNQ1 RYR2 SCN5A
29 jervell and lange-nielsen syndrome 1 9.0 KCNH2 KCNQ1 SCN5A
30 atrioventricular block 8.9 KCNH2 KCNQ1 SCN5A
31 syncope 8.7 KCNH2 KCNJ2 KCNQ1 SCN5A
32 andersen cardiodysrhythmic periodic paralysis 8.7 KCNH2 KCNJ2 KCNQ1 SCN5A
33 familial atrial fibrillation 8.7 KCNH2 KCNJ2 KCNQ1 SCN5A
34 sudden infant death syndrome 8.6 KCNH2 KCNQ1 RYR2 SCN5A
35 long qt syndrome 3 8.5 ANK2 KCNH2 KCNQ1 SCN5A
36 cardiac conduction defect 8.4 DSP KCNH2 KCNQ1 RYR2 SCN5A
37 brugada syndrome 8.4 ANK2 KCNH2 KCNQ1 SCN5A
38 arrhythmogenic right ventricular cardiomyopathy 8.2 ANK2 DSG2 DSP KCNH2 RYR2 SCN5A
39 heart conduction disease 8.0 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
40 heart disease 7.9 DSP KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
41 cardiac arrhythmia 7.8 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
42 cardiac arrest 7.8 CALM1 CASQ2 DSP KCNQ1 RYR2 SCN5A
43 long qt syndrome 2 7.8 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
44 atrial fibrillation 7.8 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
45 intrinsic cardiomyopathy 7.5 DSG2 DSP KCNH2 KCNJ2 KCNQ1 RYR2
46 long qt syndrome 6 7.4 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
47 long qt syndrome 5 7.4 ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
48 dilated cardiomyopathy 7.4 DSG2 DSP KCNH2 KCNQ1 RYR2 SCN5A
49 long qt syndrome 7.3 ANK2 CALM1 KCNH2 KCNJ2 KCNQ1 RYR2
50 long qt syndrome 1 6.1 ANK2 CALM1 CASQ2 DSP KCNH2 KCNJ2

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion
syncope
sudden death
sinoatrial node dysfunction (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, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 syncope 32 HP:0001279
3 atrial fibrillation 32 occasional (7.5%) HP:0005110
4 ventricular tachycardia 32 HP:0004756
5 atrial standstill 32 occasional (7.5%) HP:0025478

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:


seizures, syncope

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CASQ2 DSP KCNH2 KCNJ2 KCNQ1 RYR2
2 growth/size/body region MP:0005378 9.56 KCNQ1 RYR2 SCN5A TRDN CASQ2 DSP
3 muscle MP:0005369 9.23 CASQ2 DSP KCNH2 KCNJ2 KCNQ1 RYR2

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy

Cochrane evidence based reviews: tachycardia, ventricular

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

# Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 29 CASQ2 RYR2 TRDN

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

41
Heart, Atrioventricular Node

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

# Title Authors Year
1
Effects of individualized exercise training in patients with catecholaminergic polymorphic ventricular tachycardia type 1. ( 24837260 )
2014

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

75 (show all 43)
# 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
40 RYR2 p.Cys3800Phe VAR_079514
41 RYR2 p.Ser4124Thr VAR_079515
42 RYR2 p.Gln4159Pro VAR_079516
43 RYR2 p.Ala4556Thr VAR_079517 rs189345192

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy:

6
(show top 50) (show all 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
2 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh38 Chromosome 1, 237634937: 237634937
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.7422G> C (p.Arg2474Ser) single nucleotide variant Pathogenic rs121918598 GRCh38 Chromosome 1, 237648523: 237648523
5 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh37 Chromosome 1, 237947324: 237947324
6 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh38 Chromosome 1, 237784024: 237784024
7 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
8 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh38 Chromosome 1, 237791441: 237791441
9 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh37 Chromosome 1, 237802368: 237802368
10 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh38 Chromosome 1, 237639068: 237639068
11 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh37 Chromosome 1, 237961337: 237961337
12 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh38 Chromosome 1, 237798037: 237798037
13 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh37 Chromosome 1, 237947614: 237947614
14 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh38 Chromosome 1, 237784314: 237784314
15 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh37 Chromosome 1, 237982481: 237982481
16 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh38 Chromosome 1, 237819181: 237819181
17 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
18 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
19 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh37 Chromosome 1, 237493979: 237495101
20 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh38 Chromosome 1, 237330679: 237331801
21 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
22 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh38 Chromosome 14, 90401385: 90401385
23 CALM1 NM_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
24 CALM1 NM_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh38 Chromosome 14, 90404386: 90404386
25 PKP2 NM_004572.3(PKP2): c.269_272delTACA (p.Leu90Profs) deletion Likely pathogenic rs397517025 GRCh37 Chromosome 12, 33031918: 33031921
26 PKP2 NM_004572.3(PKP2): c.269_272delTACA (p.Leu90Profs) deletion Likely pathogenic rs397517025 GRCh38 Chromosome 12, 32878984: 32878987
27 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh37 Chromosome 17, 68171424: 68171424
28 KCNJ2 NM_000891.2(KCNJ2): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs199473373 GRCh38 Chromosome 17, 70175283: 70175283
29 DSP NM_004415.3(DSP): c.2131_2132delAG (p.Ser711Cysfs) deletion Pathogenic rs587782927 GRCh37 Chromosome 6, 7574319: 7574320
30 DSP NM_004415.3(DSP): c.2131_2132delAG (p.Ser711Cysfs) deletion Pathogenic rs587782927 GRCh38 Chromosome 6, 7574086: 7574087
31 RYR2 NM_001035.2(RYR2): c.11570A> G (p.Tyr3857Cys) single nucleotide variant Uncertain significance rs587782975 GRCh37 Chromosome 1, 237935324: 237935324
32 RYR2 NM_001035.2(RYR2): c.11570A> G (p.Tyr3857Cys) single nucleotide variant Uncertain significance rs587782975 GRCh38 Chromosome 1, 237772024: 237772024
33 SCN4B NM_174934.3(SCN4B): c.592_593+1delAAG deletion Uncertain significance rs587782976 GRCh38 Chromosome 11, 118141206: 118141208
34 SCN4B NM_174934.3(SCN4B): c.592_593+1delAAG deletion Uncertain significance rs587782976 GRCh37 Chromosome 11, 118011921: 118011923
35 RYR2 NM_001035.2(RYR2): c.3038G> A (p.Arg1013Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149514924 GRCh37 Chromosome 1, 237711862: 237711862
36 RYR2 NM_001035.2(RYR2): c.3038G> A (p.Arg1013Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149514924 GRCh38 Chromosome 1, 237548562: 237548562
37 RYR2 NM_001035.2(RYR2): c.7493C> T (p.Ala2498Val) single nucleotide variant Likely benign rs374191985 GRCh37 Chromosome 1, 237811894: 237811894
38 RYR2 NM_001035.2(RYR2): c.7493C> T (p.Ala2498Val) single nucleotide variant Likely benign rs374191985 GRCh38 Chromosome 1, 237648594: 237648594
39 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh37 Chromosome 1, 116283431: 116283431
40 CASQ2 NM_001232.3(CASQ2): c.338G> A (p.Ser113Asn) single nucleotide variant Uncertain significance rs199750975 GRCh38 Chromosome 1, 115740810: 115740810
41 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh37 Chromosome 1, 237675024: 237675024
42 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh38 Chromosome 1, 237511724: 237511724
43 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh37 Chromosome 1, 237758826: 237758826
44 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh38 Chromosome 1, 237595526: 237595526
45 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
46 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
47 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh37 Chromosome 1, 116283393: 116283393
48 CASQ2 NM_001232.3(CASQ2): c.376G> C (p.Asp126His) single nucleotide variant Uncertain significance rs727502908 GRCh38 Chromosome 1, 115740772: 115740772
49 RYR2 NM_001035.2(RYR2): c.365G> A (p.Arg122His) single nucleotide variant Uncertain significance rs727503396 GRCh37 Chromosome 1, 237532889: 237532889
50 RYR2 NM_001035.2(RYR2): c.365G> A (p.Arg122His) single nucleotide variant Uncertain significance rs727503396 GRCh38 Chromosome 1, 237369589: 237369589

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 CALM1 KCNQ1 RYR2 SCN5A
2
Show member pathways
12.65 CALM1 KCNH2 KCNJ2 KCNQ1
3
Show member pathways
12.23 CALM1 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
4
Show member pathways
12.06 DSG2 DSP RYR2
5 11.91 CALM1 KCNH2 KCNJ2 KCNQ1
6
Show member pathways
11.83 CALM1 KCNJ2 KCNQ1
7
Show member pathways
11.75 KCNH2 KCNJ2 KCNQ1
8 11.67 KCNH2 KCNQ1 RYR2 SCN5A
9
Show member pathways
11.37 CALM1 KCNQ1 SCN5A
10 10.97 ANK2 CASQ2 DSP KCNH2 KCNJ2 KCNQ1
11 10.93 ANK2 SCN5A
12 10.65 KCNJ2 KCNQ1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.72 ANK2 DSP KCNQ1
2 sarcolemma GO:0042383 9.69 ANK2 RYR2 SCN5A
3 voltage-gated potassium channel complex GO:0008076 9.67 KCNH2 KCNJ2 KCNQ1
4 sarcoplasmic reticulum GO:0016529 9.61 CASQ2 RYR2 TRDN
5 voltage-gated calcium channel complex GO:0005891 9.56 CASQ2 TRDN
6 Z disc GO:0030018 9.56 ANK2 CASQ2 RYR2 SCN5A
7 smooth endoplasmic reticulum GO:0005790 9.54 KCNJ2 RYR2
8 T-tubule GO:0030315 9.54 ANK2 KCNJ2 SCN5A
9 desmosome GO:0030057 9.52 DSG2 DSP
10 sarcoplasmic reticulum membrane GO:0033017 9.5 CASQ2 RYR2 TRDN
11 junctional membrane complex GO:0030314 9.48 CASQ2 TRDN
12 sarcoplasmic reticulum lumen GO:0033018 9.46 CASQ2 TRDN
13 calcium channel complex GO:0034704 9.33 CALM1 CASQ2 RYR2
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.13 CASQ2 RYR2 TRDN
15 intercalated disc GO:0014704 9.02 ANK2 DSG2 DSP KCNJ2 SCN5A
16 plasma membrane GO:0005886 10.1 ANK2 CALM1 DSG2 DSP KCNH2 KCNJ2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.91 KCNH2 KCNJ2 KCNQ1 SCN5A
2 ion transmembrane transport GO:0034220 9.91 CALM1 CASQ2 KCNQ1 RYR2 SCN5A TRDN
3 potassium ion transport GO:0006813 9.88 KCNH2 KCNJ2 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.87 KCNH2 KCNJ2 KCNQ1
5 cellular calcium ion homeostasis GO:0006874 9.86 ANK2 RYR2 TRDN
6 regulation of cardiac conduction GO:1903779 9.8 CASQ2 RYR2 TRDN
7 cardiac conduction GO:0061337 9.78 KCNH2 KCNJ2 KCNQ1 SCN5A
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.77 CALM1 CASQ2 TRDN
9 regulation of cardiac muscle contraction GO:0055117 9.76 ANK2 CALM1 RYR2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.75 KCNH2 KCNJ2 KCNQ1
11 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.74 ANK2 CASQ2 TRDN
12 detection of calcium ion GO:0005513 9.73 CALM1 CASQ2 RYR2
13 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.72 CALM1 CASQ2 TRDN
14 membrane depolarization during action potential GO:0086010 9.71 KCNH2 SCN5A
15 regulation of cardiac muscle cell contraction GO:0086004 9.71 ANK2 KCNJ2 SCN5A
16 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.71 ANK2 CALM1 CASQ2 RYR2
17 positive regulation of heart rate GO:0010460 9.7 KCNQ1 RYR2
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 KCNJ2 SCN5A
19 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.7 DSG2 DSP RYR2
20 cellular response to epinephrine stimulus GO:0071872 9.69 KCNQ1 RYR2
21 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.69 KCNJ2 SCN5A
22 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.69 KCNH2 KCNJ2 KCNQ1
23 membrane repolarization GO:0086009 9.68 KCNH2 KCNQ1
24 potassium ion export GO:0071435 9.68 KCNH2 KCNQ1
25 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.68 CALM1 TRDN
26 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.68 KCNH2 KCNQ1
27 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.67 ANK2 RYR2
28 cellular response to caffeine GO:0071313 9.67 CASQ2 RYR2
29 atrial cardiac muscle cell action potential GO:0086014 9.67 ANK2 KCNQ1 SCN5A
30 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.67 ANK2 KCNH2 KCNQ1 SCN5A
31 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.66 RYR2 TRDN
32 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.66 KCNQ1 SCN5A
33 SA node cell action potential GO:0086015 9.65 ANK2 SCN5A
34 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.65 DSG2 DSP
35 membrane depolarization during SA node cell action potential GO:0086046 9.65 ANK2 SCN5A
36 cardiac muscle contraction GO:0060048 9.65 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
37 sarcoplasmic reticulum calcium ion transport GO:0070296 9.64 ANK2 RYR2
38 regulation of cell communication by electrical coupling GO:0010649 9.64 CASQ2 TRDN
39 desmosome organization GO:0002934 9.63 DSG2 DSP
40 membrane repolarization during action potential GO:0086011 9.63 KCNH2 KCNJ2 KCNQ1
41 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
42 regulation of atrial cardiac muscle cell action potential GO:0098910 9.62 ANK2 RYR2
43 regulation of membrane repolarization GO:0060306 9.62 CASQ2 KCNH2 KCNJ2 KCNQ1
44 regulation of SA node cell action potential GO:0098907 9.61 ANK2 RYR2
45 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.6 CASQ2 RYR2
46 regulation of heart rate GO:0002027 9.55 ANK2 CALM1 CASQ2 RYR2 SCN5A
47 ventricular cardiac muscle cell action potential GO:0086005 9.35 ANK2 KCNH2 KCNQ1 RYR2 SCN5A
48 regulation of heart rate by cardiac conduction GO:0086091 9.17 ANK2 DSG2 DSP KCNH2 KCNJ2 KCNQ1
49 ion transport GO:0006811 10.06 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
50 transmembrane transport GO:0055085 10.01 KCNH2 KCNQ1 RYR2 SCN5A

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 CALM1 CASQ2 DSG2 RYR2
2 protein kinase binding GO:0019901 9.8 ANK2 CALM1 RYR2 SCN5A
3 calmodulin binding GO:0005516 9.7 KCNQ1 RYR2 SCN5A
4 ion channel activity GO:0005216 9.63 KCNH2 RYR2 SCN5A
5 protein binding, bridging GO:0030674 9.58 ANK2 DSP TRDN
6 voltage-gated ion channel activity GO:0005244 9.56 KCNH2 KCNJ2 KCNQ1 SCN5A
7 delayed rectifier potassium channel activity GO:0005251 9.54 KCNH2 KCNQ1
8 inward rectifier potassium channel activity GO:0005242 9.51 KCNH2 KCNJ2
9 protein kinase A regulatory subunit binding GO:0034237 9.48 KCNQ1 RYR2
10 scaffold protein binding GO:0097110 9.46 DSP KCNH2 KCNQ1 SCN5A
11 protein kinase A catalytic subunit binding GO:0034236 9.43 KCNQ1 RYR2
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.37 KCNH2 KCNQ1
13 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.32 DSG2 DSP
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.13 KCNH2 KCNJ2 KCNQ1
15 ion channel binding GO:0044325 9.1 ANK2 CALM1 KCNQ1 RYR2 SCN5A TRDN

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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