CPVT1
MCID: VNT035
MIFTS: 53

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy (CPVT1)

Categories: Cardiovascular diseases, Genetic 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 58 76
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 30 6 74
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 58 13 74
Stress-Induced Polymorphic Ventricular Tachycardia 76 74
Bidirectional Tachycardia 76 74
Tachycardia, Ventricular 45 41
Cpvt1 58 76
Vtsip 58 76
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1 41
Ventricular Tachycardia, Stress-Induced Polymorphic; Vtsip 58
Catecholaminergic Polymorphic Ventricular Tachycardia 1 12
Ventricular Tachycardia Catecholaminergic Polymorphic 1 76
Ventricular Tachycardia, Stress-Induced Polymorphic 58
Double Tachycardia Induced by Catecholamines 76
Malignant Paroxysmal Ventricular Tachycardia 76
Paroxysmal Familial Ventricular Fibrillation 74
Multifocal Ventricular Premature Beats 76
Multifocal Premature Ventricular Beats 74
Paroxysmal Ventricular Fibrillation 76
Syncopal Paroxysmal Tachycardia 76
Ventricular Tachycardia 17
Syncopal Tachyarythmia 76
Multifocal Pvcs 74
Cvpt1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 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 arrhythmogenic right ventricular dysplasia, 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 Vascular smooth muscle contraction. Affiliated tissues include heart, thyroid and atrioventricular node, and related phenotypes are atrial fibrillation and atrial standstill

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 : 76 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 top 50) (show all 309)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 1 31.8 DSG2 DSP RYR2
2 catecholaminergic polymorphic ventricular tachycardia 30.7 ANK2 CALM1 CASQ2 DSP KCNH2 KCNJ2
3 hypertrophic cardiomyopathy 30.6 DSP MYH7 RYR2 SCN5A
4 atrial standstill 1 30.5 DSG2 DSP MYH7 SCN5A
5 atrioventricular block 30.4 KCNH2 KCNQ1 SCN5A
6 first-degree atrioventricular block 29.8 MYH7 SCN5A
7 syncope 29.6 KCNH2 KCNJ2 KCNQ1 SCN5A
8 short qt syndrome 29.5 KCNH2 KCNJ2 KCNQ1
9 left ventricular noncompaction 29.4 DSP KCNQ1 MYH7 RYR2 SCN5A
10 arrhythmogenic right ventricular cardiomyopathy 29.4 ANK2 DSG2 DSP KCNH2 MYH7 RYR2
11 ventricular fibrillation, paroxysmal familial, 1 29.2 DSP KCNH2 KCNQ1 RYR2 SCN5A
12 long qt syndrome 29.2 ANK2 CALM1 KCNH2 KCNJ2 KCNQ1 RYR2
13 atrial fibrillation 29.2 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
14 andersen cardiodysrhythmic periodic paralysis 28.9 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
15 dilated cardiomyopathy 28.9 DSG2 DSP KCNH2 KCNQ1 MYH7 RYR2
16 brugada syndrome 28.8 ANK2 KCNH2 KCNQ1 SCN5A
17 cardiac conduction defect 28.7 DSP KCNH2 KCNQ1 MYH7 RYR2 SCN5A
18 cardiac arrhythmia 28.2 ANK2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
19 heart disease 28.2 DSP KCNH2 KCNJ2 KCNQ1 MYH7 RYR2
20 cardiac arrest 27.1 ANK2 CALM1 CASQ2 DSP KCNH2 KCNQ1
21 ventricular tachycardia, familial 12.8
22 bidirectional tachycardia 12.6
23 paroxysmal ventricular fibrillation 12.6
24 ventricular fibrillation, paroxysmal familial, 2 12.0
25 cardiomyopathy, dilated, 1o 11.8
26 ventricular tachycardia, catecholaminergic polymorphic, 4 11.7
27 ventricular tachycardia, catecholaminergic polymorphic, 3 11.6
28 naxos disease 11.6
29 idiopathic ventricular fibrillation, non brugada type 11.4
30 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 11.3
31 cardiomyopathy, infantile histiocytoid 11.1
32 cardiac arrhythmia, ankyrin-b-related 11.1
33 primary hypomagnesemia 11.1
34 chaotic atrial tachycardia 11.1
35 progressive familial heart block, type ia 10.7
36 myocardial infarction 10.7
37 tetralogy of fallot 10.7
38 cardiac sarcoidosis 10.7
39 myocarditis 10.6
40 sarcoidosis 1 10.5
41 progressive familial heart block, type ib 10.5
42 right bundle branch block 10.5
43 left bundle branch hemiblock 10.5
44 catecholaminergic polymorphic ventricular tachycardia 5 10.4
45 incessant infant ventricular tachycardia 10.4
46 coronary artery anomaly 10.4
47 myotonic dystrophy 10.4
48 myotonia atrophica 10.4
49 arteries, anomalies of 10.4
50 fibroma 10.4

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...

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 atrial fibrillation 33 occasional (7.5%) HP:0005110
2 atrial standstill 33 occasional (7.5%) HP:0025478
3 left ventricular dysfunction 33 very rare (1%) HP:0005162
4 seizures 33 HP:0001250
5 syncope 33 HP:0001279
6 ventricular tachycardia 33 HP:0004756

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures

Cardiovascular Heart:
sudden death
syncope
atrial fibrillation (in some patients)
polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion
sinoatrial node dysfunction (in some patients)
more

Clinical features from OMIM:

604772

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CASQ2 DSP KCNH2 KCNJ2 KCNQ1 MYH7
2 growth/size/body region MP:0005378 9.56 CASQ2 DSP KCNH2 KCNJ2 KCNQ1 RYR2
3 muscle MP:0005369 9.28 CASQ2 DSP KCNH2 KCNJ2 KCNQ1 MYH7

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 30 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:

42
Heart, Thyroid, Atrioventricular Node, Skin, Brain, Tongue, Adrenal Gland

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:

(show all 13)
# Title Authors Year
1
Arrhythmia initiation in catecholaminergic polymorphic ventricular tachycardia type 1 depends on both heart rate and sympathetic stimulation. ( 30399185 )
2018
2
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
Effects of individualized exercise training in patients with catecholaminergic polymorphic ventricular tachycardia type 1. ( 24837260 )
2014
5
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
6
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ( 23994779 )
2013
7
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
8
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. ( 19926015 )
2009
9
Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. ( 17984046 )
2007
10
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. ( 17875969 )
2007
11
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. ( 12093772 )
2002
12
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. ( 11208676 )
2001
13
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. ( 11157710 )
2001

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:

76 (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 rs147545306
12 RYR2 p.Arg4959Gln VAR_023696 rs794728811
13 RYR2 p.Pro164Ser VAR_044086 rs764772142
14 RYR2 p.Arg176Gln VAR_044087 rs794728708
15 RYR2 p.Arg414Leu VAR_044088 rs371121679
16 RYR2 p.Ile419Phe VAR_044089 rs134917673
17 RYR2 p.Arg420Trp VAR_044090 rs190140598
18 RYR2 p.Glu2311Asp VAR_044092 rs794728747
19 RYR2 p.Ala2387Pro VAR_044093 rs794728753
20 RYR2 p.Tyr2392Cys VAR_044094 rs772220753
21 RYR2 p.Ala2403Thr VAR_044095 rs145692928
22 RYR2 p.Thr2504Met VAR_044096 rs769219555
23 RYR2 p.Leu3778Phe VAR_044097 rs147250862
24 RYR2 p.Gly3946Ser VAR_044098 rs794728777
25 RYR2 p.Asn4097Ser VAR_044099 rs794728784
26 RYR2 p.Glu4146Lys VAR_044100 rs134958579
27 RYR2 p.Thr4158Pro VAR_044101 rs120296280
28 RYR2 p.Phe4499Cys VAR_044102 rs145727114
29 RYR2 p.Met4504Ile VAR_044103 rs132362137
30 RYR2 p.Ala4510Thr VAR_044104 rs397516510
31 RYR2 p.Ala4607Pro VAR_044105 rs135916372
32 RYR2 p.Gly4671Arg VAR_044106 rs118835272
33 RYR2 p.Val4771Ile VAR_044107 rs794728804
34 RYR2 p.Ile4848Val VAR_044108 rs136329840
35 RYR2 p.Ala4860Gly VAR_044109 rs121918606
36 RYR2 p.Ile4867Met VAR_044110 rs121809665
37 RYR2 p.Val4880Ala VAR_044111 rs124272382
38 RYR2 p.Asn4895Asp VAR_044112 rs118561900
39 RYR2 p.Glu4950Lys VAR_044113 rs886039172
40 RYR2 p.Cys3800Phe VAR_079514 rs123909370
41 RYR2 p.Ser4124Thr VAR_079515 rs138588191
42 RYR2 p.Gln4159Pro VAR_079516 rs123496341
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 429)
# Gene Variation Type Significance SNP ID Assembly Location
1 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Uncertain significance rs786205418 GRCh37 Chromosome 15, 73635725: 73635726
2 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Uncertain significance rs786205418 GRCh38 Chromosome 15, 73343384: 73343385
3 HCN4 NM_005477.2(HCN4): c.1209_1209+1insGTGA insertion Uncertain significance rs786205418 NCBI36 Chromosome 15, 71422778: 71422779
4 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh37 Chromosome 3, 38620907: 38620907
5 SCN5A NM_198056.2(SCN5A): c.3308C> A (p.Ser1103Tyr) single nucleotide variant risk factor rs7626962 GRCh38 Chromosome 3, 38579416: 38579416
6 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh37 Chromosome 1, 237798237: 237798237
7 RYR2 NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu) single nucleotide variant Pathogenic rs121918597 GRCh38 Chromosome 1, 237634937: 237634937
8 RYR2 NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser) single nucleotide variant Pathogenic rs121918598 GRCh37 Chromosome 1, 237811823: 237811823
9 RYR2 NM_001035.2(RYR2): c.7422G> C (p.Arg2474Ser) single nucleotide variant Pathogenic rs121918598 GRCh38 Chromosome 1, 237648523: 237648523
10 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh37 Chromosome 1, 237947324: 237947324
11 RYR2 NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys) single nucleotide variant Pathogenic rs121918599 GRCh38 Chromosome 1, 237784024: 237784024
12 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh37 Chromosome 1, 237954741: 237954741
13 RYR2 NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918600 GRCh38 Chromosome 1, 237791441: 237791441
14 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh37 Chromosome 1, 237802368: 237802368
15 RYR2 NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser) single nucleotide variant Pathogenic rs121918603 GRCh38 Chromosome 1, 237639068: 237639068
16 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh37 Chromosome 1, 237961337: 237961337
17 RYR2 NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121918604 GRCh38 Chromosome 1, 237798037: 237798037
18 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh37 Chromosome 1, 237947614: 237947614
19 RYR2 NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg) single nucleotide variant Pathogenic rs121918605 GRCh38 Chromosome 1, 237784314: 237784314
20 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh37 Chromosome 1, 237982481: 237982481
21 RYR2 NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly) single nucleotide variant Pathogenic rs121918606 GRCh38 Chromosome 1, 237819181: 237819181
22 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh37 Chromosome 18, 29099850: 29099850
23 DSG2 NM_001943.4(DSG2): c.166G> A (p.Val56Met) single nucleotide variant risk factor rs121913013 GRCh38 Chromosome 18, 31519887: 31519887
24 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh37 Chromosome 3, 38645420: 38645420
25 SCN5A NM_198056.2(SCN5A): c.1673A> G (p.His558Arg) single nucleotide variant Benign/Likely benign rs1805124 GRCh38 Chromosome 3, 38603929: 38603929
26 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh37 Chromosome 1, 237493979: 237495101
27 RYR2 NM_001035.2(RYR2): c.169-199_273+819del deletion Pathogenic GRCh38 Chromosome 1, 237330679: 237331801
28 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh37 Chromosome 3, 38628879: 38628879
29 SCN5A NM_000335.4(SCN5A): c.2436+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312419 GRCh38 Chromosome 3, 38587388: 38587388
30 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh37 Chromosome 3, 38597919: 38597919
31 SCN5A NM_198056.2(SCN5A): c.4437+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148598985 GRCh38 Chromosome 3, 38556428: 38556428
32 SCN5A NM_000335.4(SCN5A): c.5848G> T (p.Val1950Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41315493 GRCh37 Chromosome 3, 38592012: 38592012
33 SCN5A NM_000335.4(SCN5A): c.5848G> T (p.Val1950Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41315493 GRCh38 Chromosome 3, 38550521: 38550521
34 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
35 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh38 Chromosome 14, 90401385: 90401385
36 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730
37 CALM1 NM_006888.5(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh38 Chromosome 14, 90404386: 90404386
38 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh37 Chromosome 1, 237880494: 237880494
39 RYR2 NM_001035.2(RYR2): c.10324-4A> G single nucleotide variant Benign/Likely benign rs72751287 GRCh38 Chromosome 1, 237717194: 237717194
40 RYR2 NM_001035.2(RYR2): c.13528G> A (p.Ala4510Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs397516510 GRCh37 Chromosome 1, 237954780: 237954780
41 RYR2 NM_001035.2(RYR2): c.13528G> A (p.Ala4510Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs397516510 GRCh38 Chromosome 1, 237791480: 237791480
42 RYR2 NM_001035.2(RYR2): c.3320C> T (p.Thr1107Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200236750 GRCh37 Chromosome 1, 237729972: 237729972
43 RYR2 NM_001035.2(RYR2): c.3320C> T (p.Thr1107Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200236750 GRCh38 Chromosome 1, 237566672: 237566672
44 RYR2 NM_001035.2(RYR2): c.6337G> A (p.Val2113Met) single nucleotide variant Conflicting interpretations of pathogenicity rs186906598 GRCh37 Chromosome 1, 237791277: 237791277
45 RYR2 NM_001035.2(RYR2): c.6337G> A (p.Val2113Met) single nucleotide variant Conflicting interpretations of pathogenicity rs186906598 GRCh38 Chromosome 1, 237627977: 237627977
46 PKP2 NM_004572.3(PKP2): c.269_272delTACA (p.Leu90Profs) deletion Likely pathogenic rs397517025 GRCh37 Chromosome 12, 33031918: 33031921
47 PKP2 NM_004572.3(PKP2): c.269_272delTACA (p.Leu90Profs) deletion Likely pathogenic rs397517025 GRCh38 Chromosome 12, 32878984: 32878987
48 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh37 Chromosome 1, 156106048: 156106048
49 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh38 Chromosome 1, 156136257: 156136257
50 SCN5A NM_198056.2(SCN5A): c.100C> T (p.Arg34Cys) single nucleotide variant Benign/Likely benign rs6791924 GRCh37 Chromosome 3, 38674699: 38674699

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 CALM1 KCNQ1 MYH7 RYR2 SCN5A
2
Show member pathways
12.39 CALM1 KCNJ2 MYH7 RYR2
3
Show member pathways
12.23 CALM1 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
4 11.98 CALM1 KCNH2 KCNJ2 KCNQ1
5
Show member pathways
11.87 CALM1 KCNJ2 KCNQ1
6
Show member pathways
11.8 KCNH2 KCNJ2 KCNQ1
7 11.67 KCNH2 KCNQ1 RYR2 SCN5A
8
Show member pathways
11.42 CALM1 KCNQ1 SCN5A
9 10.97 ANK2 SCN5A
10 10.97 ANK2 CASQ2 DSP KCNH2 KCNJ2 KCNQ1
11 10.68 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 9.73 ANK2 DSP KCNQ1
2 sarcolemma GO:0042383 9.7 ANK2 RYR2 SCN5A
3 voltage-gated potassium channel complex GO:0008076 9.69 KCNH2 KCNJ2 KCNQ1
4 sarcomere GO:0030017 9.61 CALM1 MYH7 RYR2
5 sarcoplasmic reticulum GO:0016529 9.58 CASQ2 RYR2 TRDN
6 smooth endoplasmic reticulum GO:0005790 9.55 KCNJ2 RYR2
7 desmosome GO:0030057 9.54 DSG2 DSP
8 T-tubule GO:0030315 9.54 ANK2 KCNJ2 SCN5A
9 sarcoplasmic reticulum membrane GO:0033017 9.5 CASQ2 RYR2 TRDN
10 sarcoplasmic reticulum lumen GO:0033018 9.49 CASQ2 TRDN
11 junctional membrane complex GO:0030314 9.48 CASQ2 TRDN
12 calcium channel complex GO:0034704 9.43 CALM1 CASQ2 RYR2
13 Z disc GO:0030018 9.35 ANK2 CASQ2 MYH7 RYR2 SCN5A
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.33 CASQ2 RYR2 TRDN
15 intercalated disc GO:0014704 9.02 ANK2 DSG2 DSP KCNJ2 SCN5A
16 plasma membrane GO:0005886 10.16 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 9.9 KCNH2 KCNJ2 KCNQ1 SCN5A
2 potassium ion transport GO:0006813 9.88 KCNH2 KCNJ2 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.88 KCNH2 KCNJ2 KCNQ1
4 muscle contraction GO:0006936 9.86 CALM1 MYH7 TRDN
5 cellular calcium ion homeostasis GO:0006874 9.85 ANK2 RYR2 TRDN
6 ion transmembrane transport GO:0034220 9.83 CASQ2 KCNQ1 RYR2 SCN5A TRDN
7 regulation of cardiac conduction GO:1903779 9.78 CASQ2 RYR2 TRDN
8 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.75 CALM1 CASQ2 TRDN
9 regulation of cardiac muscle contraction GO:0055117 9.74 ANK2 CALM1 RYR2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.73 KCNH2 KCNJ2 KCNQ1
11 detection of calcium ion GO:0005513 9.72 CALM1 CASQ2 RYR2
12 positive regulation of heart rate GO:0010460 9.71 KCNQ1 RYR2
13 regulation of cardiac muscle cell contraction GO:0086004 9.71 ANK2 KCNJ2 SCN5A
14 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.71 ANK2 KCNH2 KCNQ1 SCN5A
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 KCNJ2 SCN5A
16 membrane depolarization during action potential GO:0086010 9.7 KCNH2 SCN5A
17 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.7 CALM1 CASQ2 TRDN
18 striated muscle contraction GO:0006941 9.69 CASQ2 MYH7
19 potassium ion export across plasma membrane GO:0097623 9.69 KCNH2 KCNQ1
20 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.69 ANK2 TRDN
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.69 DSG2 DSP RYR2
22 cellular response to epinephrine stimulus GO:0071872 9.68 KCNQ1 RYR2
23 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.68 KCNJ2 SCN5A
24 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.68 KCNH2 KCNQ1
25 membrane repolarization GO:0086009 9.67 KCNH2 KCNQ1
26 cellular response to caffeine GO:0071313 9.67 CASQ2 RYR2
27 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.67 KCNH2 KCNJ2 KCNQ1
28 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 ANK2 CALM1 CASQ2 RYR2
29 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.66 CALM1 TRDN
30 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.65 ANK2 RYR2
31 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.65 RYR2 TRDN
32 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.65 DSG2 DSP
33 atrial cardiac muscle cell action potential GO:0086014 9.65 ANK2 KCNQ1 SCN5A
34 ventricular cardiac muscle cell action potential GO:0086005 9.65 ANK2 KCNH2 KCNQ1 RYR2 SCN5A
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 KCNQ1 SCN5A
36 SA node cell action potential GO:0086015 9.64 ANK2 SCN5A
37 desmosome organization GO:0002934 9.63 DSG2 DSP
38 membrane depolarization during SA node cell action potential GO:0086046 9.63 ANK2 SCN5A
39 membrane repolarization during action potential GO:0086011 9.63 KCNH2 KCNJ2 KCNQ1
40 cardiac muscle contraction GO:0060048 9.63 CASQ2 KCNH2 KCNQ1 MYH7 RYR2 SCN5A
41 regulation of cell communication by electrical coupling GO:0010649 9.62 CASQ2 TRDN
42 sarcoplasmic reticulum calcium ion transport GO:0070296 9.62 ANK2 RYR2
43 regulation of membrane repolarization GO:0060306 9.62 CASQ2 KCNH2 KCNJ2 KCNQ1
44 regulation of atrial cardiac muscle cell action potential GO:0098910 9.61 ANK2 RYR2
45 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.59 CASQ2 RYR2
46 regulation of SA node cell action potential GO:0098907 9.58 ANK2 RYR2
47 regulation of heart rate GO:0002027 9.43 ANK2 CALM1 CASQ2 MYH7 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 protein kinase binding GO:0019901 9.84 ANK2 CALM1 RYR2 SCN5A
2 ion channel activity GO:0005216 9.7 KCNH2 RYR2 SCN5A
3 calmodulin binding GO:0005516 9.62 KCNQ1 MYH7 RYR2 SCN5A
4 protein binding, bridging GO:0030674 9.58 ANK2 DSP TRDN
5 voltage-gated ion channel activity GO:0005244 9.56 KCNH2 KCNJ2 KCNQ1 SCN5A
6 delayed rectifier potassium channel activity GO:0005251 9.55 KCNH2 KCNQ1
7 inward rectifier potassium channel activity GO:0005242 9.51 KCNH2 KCNJ2
8 protein kinase A regulatory subunit binding GO:0034237 9.49 KCNQ1 RYR2
9 nitric-oxide synthase binding GO:0050998 9.48 CALM1 SCN5A
10 protein kinase A catalytic subunit binding GO:0034236 9.46 KCNQ1 RYR2
11 scaffold protein binding GO:0097110 9.46 DSP KCNH2 KCNQ1 SCN5A
12 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNH2 KCNQ1
13 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.37 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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