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MCID: VNT034
MIFTS: 56

Ventricular Fibrillation, Paroxysmal Familial, 1

Categories: Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 1

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MalaCards integrated aliases for Ventricular Fibrillation, Paroxysmal Familial, 1:

Name: Ventricular Fibrillation, Paroxysmal Familial, 1 57 75
Ivf 57 75 3
Paroxysmal Familial Ventricular Fibrillation 1 29 6
Ventricular Fibrillation, Familial, 1 57 13
Ventricular Fibrillation 44 73
Vf1 57 75
Vf 57 75
Susceptibility to Ventricular Fibrillation During Myocardial Infarction 75
Fibrillation, Ventricular, Paroxysmal, Familial, Type 1 40
Familial Paroxysmal Ventricular Fibrillation 1 75
Ventricular Fibrillation Adverse Event 73
Fibrillation, Ventricular 40

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 603829
MedGen 42 C2751898
MeSH 44 D014693
SNOMED-CT via HPO 69 71908006
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Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

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OMIM : 57 Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see 601144) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (601144). (603829)

MalaCards based summary : Ventricular Fibrillation, Paroxysmal Familial, 1, also known as ivf, is related to brugada syndrome and early repolarization associated with ventricular fibrillation, and has symptoms including chest pain An important gene associated with Ventricular Fibrillation, Paroxysmal Familial, 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are DAG and IP3 signaling and Aldosterone synthesis and secretion. Affiliated tissues include heart, testes and thyroid, and related phenotypes are ventricular fibrillation and cardiovascular system

CDC : 3 ART has been used in the United States since 1981 to help women become pregnant.

UniProtKB/Swiss-Prot : 75 Familial paroxysmal ventricular fibrillation 1: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.

Wikipedia : 76 Ventricular fibrillation (V-fib or VF) is when the heart quivers instead of pumping due to disorganized... more...

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Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

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Diseases in the Paroxysmal Ventricular Fibrillation family:

Ventricular Fibrillation, Paroxysmal Familial, 1 Ventricular Fibrillation, Paroxysmal Familial, 2

Diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 28.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2 early repolarization associated with ventricular fibrillation 12.4
3 premature ovarian failure 1 11.4
4 polycystic ovary syndrome 11.3
5 ventricular fibrillation, paroxysmal familial, 2 11.0
6 paroxysmal ventricular fibrillation 10.9
7 familial progressive cardiac conduction defect 10.7 NKX2-5 SCN5A
8 familial bicuspid aortic valve 10.7 DSP NKX2-5
9 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.7 DSP RYR2
10 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.6 DSP RYR2
11 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.6 DSP RYR2
12 arrhythmogenic right ventricular dysplasia, familial, 9 10.5 DSP RYR2
13 brugada syndrome 1 10.5 KCNH2 SCN5A
14 fainting 10.5 CHKB KCNH2
15 cardiomyopathy, dilated, 1e 10.5 DSP NKX2-5 SCN5A
16 arrhythmogenic right ventricular dysplasia, familial, 8 10.4 DSP RYR2
17 familial short qt syndrome 10.4 KCNH2 KCNQ1
18 catecholaminergic polymorphic ventricular tachycardia 10.4 KCNH2 RYR2 SCN5A
19 arrhythmogenic right ventricular dysplasia, familial, 5 10.3 NKX2-5 SCN5A
20 ovarian hyperstimulation syndrome 10.3
21 syncope 10.3 KCNH2 KCNQ1 SCN5A
22 infertility 10.3
23 progressive familial heart block 10.3 SCN5A TNNT2
24 right bundle branch block 10.2 CACNA1C SCN5A
25 endometriosis 10.2
26 atrial standstill 1 10.1 DSP SCN5A TNNT2
27 arrhythmogenic right ventricular cardiomyopathy 10.1 DSP KCNH2 RYR2 SCN5A
28 adenomyosis 10.1
29 endotheliitis 10.1
30 heart conduction disease 10.0 KCNH2 KCNQ1 RYR2 SCN5A
31 sudden infant death syndrome 10.0 KCNH2 KCNQ1 RYR2 SCN5A
32 anxiety 10.0
33 ectopic pregnancy 10.0
34 thrombophilia 10.0
35 long qt syndrome 13 9.9 KCNH2 KCNJ5 KCNQ1 SCN5A
36 aging 9.9
37 ovarian cyst 9.9
38 prostate cancer 9.8
39 pancreatic cancer 9.8
40 prostatitis 9.8
41 splenic infarction 9.8
42 pancreatitis 9.8
43 molluscum contagiosum 9.8
44 tremor 9.8
45 body mass index quantitative trait locus 1 9.8
46 male infertility 9.8
47 endometritis 9.8
48 azoospermia 9.8
49 vaginitis 9.8
50 cardiac conduction defect 9.8 DSP KCNH2 KCNQ1 RYR2 SCN5A

Comorbidity relations with Ventricular Fibrillation, Paroxysmal Familial, 1 via Phenotypic Disease Network (PDN): (show all 22)


Acute Cystitis Acute Kidney Failure
Aortic Valve Disease 1 Cardiac Arrest
Cardiogenic Shock Chronic Kidney Failure
Chronic Myocardial Ischemia Deficiency Anemia
Dressler's Syndrome Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Ocular Motor Apraxia Peripheral Vascular Disease
Respiratory Failure Sinoatrial Node Disease
Third-Degree Atrioventricular Block Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1:



Diseases related to Ventricular Fibrillation, Paroxysmal Familial, 1
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Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 1

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Clinical features from OMIM:

603829

Human phenotypes related to Ventricular Fibrillation, Paroxysmal Familial, 1:

32
# Description HPO Frequency HPO Source Accession
1 ventricular fibrillation 32 HP:0001663

UMLS symptoms related to Ventricular Fibrillation, Paroxysmal Familial, 1:


chest pain

MGI Mouse Phenotypes related to Ventricular Fibrillation, Paroxysmal Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 SLC9A1 TNNT2 CACNA1C DSP KCNH2 KCNJ5
2 growth/size/body region MP:0005378 10 DSP KCNE2 KCNH2 KCNQ1 KNG1 NGF
3 embryo MP:0005380 9.87 TNNT2 CACNA1C DSP KCNH2 NKX2-5 RYR2
4 homeostasis/metabolism MP:0005376 9.85 RYR2 SLC9A1 TNNT2 CACNA1C CHKB KCNE2
5 muscle MP:0005369 9.65 CACNA1C CHKB DSP KCNH2 KCNQ1 NGF
6 nervous system MP:0003631 9.32 CACNA1C CHKB DSP KCNQ1 NGF NKX2-5
Sources

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 1

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IDOMENEO - Is Treatment Reality in Vascular Medicine Evidence-based and Follows Guideline Recommendations? A Project for Quality Development Exemplified by Peripheral Arterial Disease (PAD) Recruiting NCT03098290

Search NIH Clinical Center for Ventricular Fibrillation, Paroxysmal Familial, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: ventricular fibrillation

Sources

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 1

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Genetic tests related to Ventricular Fibrillation, Paroxysmal Familial, 1:

# Genetic test Affiliating Genes
1 Paroxysmal Familial Ventricular Fibrillation 1 29 SCN5A
Sources

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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MalaCards organs/tissues related to Ventricular Fibrillation, Paroxysmal Familial, 1:

41
Heart, Testes, Thyroid, Brain, Kidney
Sources

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

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Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 249)
# Title Authors Year
1
Anthracycline-induced acute myocarditis and ventricular fibrillation arrest. ( 29194712 )
2018
2
Progression of ECG abnormalities Associated with Initial Ventricular Fibrillation in Asymptomatic Patients with Brugada Syndrome. ( 29953954 )
2018
3
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
4
Ventricular Fibrillation Associated With Dynamic Changes in J-Point Elevation in a Patient With Silent Thyroiditis. ( 29383332 )
2018
5
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
6
Bronchogenic cyst of the atrioventricular septum presenting with ventricular fibrillation. ( 28840106 )
2017
7
Ventricular Fibrillation and Myocardial Depression Following Pulmonary Valve Replacement in Tetralogy of Fallot With an Intramural Coronary Artery and Coronary Artery Compression by Chest Tube. ( 28933244 )
2017
8
Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8:<i>CACNA1C</i>R858H Mutation Linked to Ventricular Fibrillation. ( 29046645 )
2017
9
Clinical implications of hypothermic ventricular fibrillation versus beating-heart technique during cardiopulmonary bypass for pulmonary valve replacement in patients with repaired tetralogy of Fallot. ( 28535202 )
2017
10
Ventricular Fibrillation Due to Early Repolarization Syndrome in the Wake of Hypothermia Due to Fulminant Acute Disseminated Encephalomyelitis. ( 28931785 )
2017
11
Cardiac arrest due to ventricular fibrillation in a 23-year-old woman with broken heart syndrome. ( 28802178 )
2017
12
Congenital fiber-type disproportion presenting as ventricular fibrillation. ( 28786238 )
2017
13
Identification of electrocardiographic risk markers for the initial and recurrent episodes of ventricular fibrillation in patients with Brugada syndrome. ( 28940628 )
2017
14
A Common Variant in SCN5A and the Risk of Ventricular Fibrillation Caused by First ST-Segment Elevation Myocardial Infarction. ( 28085969 )
2017
15
Heterogeneous distribution of substrates between the endocardium and epicardium promotes ventricular fibrillation in arrhythmogenic right ventricular dysplasia/cardiomyopathy. ( 28082418 )
2017
16
Ventricular fibrillation and sudden cardiac death during myocardial infarction. ( 27127021 )
2016
17
Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus. ( 26681609 )
2016
18
Comparison of circadian, weekly, and seasonal variations of electrical storms and single events of ventricular fibrillation in patients with Brugada syndrome. ( 28616534 )
2016
19
Identification of the STEMI-equivalent de Winter Electrocardiogram Pattern After Ventricular Fibrillation CardiacA Arrest: A Case Report. ( 27189663 )
2016
20
Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome. ( 27071757 )
2016
21
Activation Pattern of the Polymorphic Ventricular Tachycardia and Ventricular Fibrillation on Body Surface Mapping in Patients With Brugada Syndrome. ( 27319581 )
2016
22
Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current. ( 26729854 )
2016
23
A case of gingival cancer with pulmonary metastases that developed complete atrioventricular block and ventricular fibrillation as a result of myocardial metastases. ( 27980736 )
2016
24
Disturbances of cardiac wavelength and repolarization precede Torsade de Pointes and ventricular fibrillation in Langendorff perfused rabbit hearts. ( 26980523 )
2016
25
Long-time &amp;quot;real-life&amp;quot; performance of the subcutaneous ICD in patients with electrical heart disease or idiopathic ventricular fibrillation. ( 27217031 )
2016
26
Amiodarone or nifekalant upon hospital arrival for refractory ventricular fibrillation after out-of-hospital cardiac arrest. ( 27568110 )
2016
27
A case of brugada syndrome presenting with ventricular fibrillation storm and prominent early repolarization. ( 27038845 )
2016
28
A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death. ( 27465075 )
2016
29
Conversion to Purkinje-Related Monomorphic Ventricular Tachycardia After Ablation of Ventricular Fibrillation in Ischemic Heart Disease. ( 27635070 )
2016
30
Risk stratification of ventricular fibrillation in Brugada syndrome using noninvasive scoring methods. ( 27424075 )
2016
31
Difference in the Clinical Characteristics of Ventricular Fibrillation Occurrence in the Early Phase of an Acute Myocardial Infarction Between Patients with and without J waves. ( 25895076 )
2015
32
ICD Shock, Not Ventricular Fibrillation, Causes Elevation of High Sensitive Troponin T after Defibrillation Threshold Testing--The Prospective, Randomized, Multicentre TropShock-Trial. ( 26208329 )
2015
33
Molecular Basis of Hypokalemia-Induced Ventricular Fibrillation. ( 26269574 )
2015
34
Characteristics of ventricular fibrillation in relation to cardiac aetiology and shock success: A waveform analysis study in ICD-patients. ( 25449343 )
2015
35
Ventricular fibrillation development following atrial fibrillation after the ingestion of sildenaphil in a patient with Wolff-Parkinson-White syndrome. ( 26361569 )
2015
36
Unusual Manifestation of Graves' Disease: Ventricular Fibrillation. ( 26558239 )
2015
37
Brugada Syndrome Presenting as Polymorphic Ventricular Tachycardia-Ventricular Fibrillation Lasting 94 Seconds Recorded on an Ambulatory Monitor. ( 26501938 )
2015
38
Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. ( 25691416 )
2015
39
Extracorporeal membrane oxygenation after protracted ventricular fibrillation cardiac arrest: case report and discussion. ( 25927265 )
2015
40
Postresuscitation hemodynamics during therapeutic hypothermia after out-of-hospital cardiac arrest with ventricular fibrillation: a retrospective study. ( 24802047 )
2014
41
Near Fatal Ventricular Fibrillation in Brugada Syndrome Despite Presence of an Implanted Implantable CardioverterA Defibrillator. ( 25240706 )
2014
42
Resumption of chest compressions after successful defibrillation and risk for recurrence of ventricular fibrillation in out-of-hospital cardiac arrest. ( 25015946 )
2014
43
Idiopathic ventricular fibrillation associated with complete right bundle branch block? ( 24633037 )
2014
44
Propofol terminates ventricular fibrillation storm caused by pulmonary embolism. ( 25382348 )
2014
45
Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T&amp;gt;C and c.13781A&amp;gt;G, with the clinical presentation of idiopathic ventricular fibrillation. ( 24950728 )
2014
46
Piceatannol facilitates conduction block and ventricular fibrillation induction in ischemia-reperfused rabbit hearts with pacing-induced heart failure. ( 24388545 )
2014
47
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. ( 25224718 )
2014
48
Fusion of structural and functional cardiac magnetic resonance imaging data for studying ventricular fibrillation. ( 25571259 )
2014
49
Catecholaminergic polymorphic ventricular tachycardia (CPVT) initially diagnosed as idiopathic ventricular fibrillation: the importance of thorough diagnostic work-up and follow-up. ( 25456695 )
2014
50
Course of quantitative ventricular fibrillation waveform measure and outcome following out-of-hospital cardiac arrest. ( 24177369 )
2014
Sources

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Fibrillation, Paroxysmal Familial, 1:

75
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Ser1710Leu VAR_017685 rs137854604

ClinVar genetic disease variations for Ventricular Fibrillation, Paroxysmal Familial, 1:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
2 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
3 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh37 Chromosome 12, 2613692: 2613692
4 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh38 Chromosome 12, 2504526: 2504526
5 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh37 Chromosome 20, 42788704: 42788704
6 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh38 Chromosome 20, 44160064: 44160064
7 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
8 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192
9 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh37 Chromosome 1, 236850055: 236850055
10 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh38 Chromosome 1, 236686755: 236686755
11 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh37 Chromosome 1, 237991725: 237991725
12 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh38 Chromosome 1, 237828425: 237828425
13 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh37 Chromosome 6, 7584307: 7584307
14 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh38 Chromosome 6, 7584074: 7584074
15 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh37 Chromosome 7, 150655597: 150655597
16 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh38 Chromosome 7, 150958509: 150958509
17 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh37 Chromosome 7, 91643610: 91643610
18 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh38 Chromosome 7, 92014296: 92014296
19 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh37 Chromosome 10, 112581444: 112581444
20 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh38 Chromosome 10, 110821686: 110821686
21 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh37 Chromosome 10, 18823006: 18823006
22 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh38 Chromosome 10, 18534077: 18534077
23 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh37 Chromosome 10, 75863605: 75863605
24 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh38 Chromosome 10, 74103847: 74103847
25 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Uncertain significance rs138901574 GRCh37 Chromosome 12, 32974461: 32974461
26 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Uncertain significance rs138901574 GRCh38 Chromosome 12, 32821527: 32821527
27 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh38 Chromosome 17, 41757751: 41757751
28 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh37 Chromosome 17, 39914003: 39914003
29 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh38 Chromosome 19, 35033851: 35033851
30 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh37 Chromosome 19, 35524755: 35524755
31 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh38 Chromosome 19, 49183151: 49183151
32 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh37 Chromosome 19, 49686408: 49686408
33 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh37 Chromosome 20, 31997968: 31997968
34 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh38 Chromosome 20, 33410162: 33410162
35 SNTA1 NM_003098.2(SNTA1): c.589C> T (p.Arg197Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs530603992 GRCh37 Chromosome 20, 32005637: 32005637
36 SNTA1 NM_003098.2(SNTA1): c.589C> T (p.Arg197Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs530603992 GRCh38 Chromosome 20, 33417831: 33417831
37 AKAP9 NM_005751.4(AKAP9): c.4825_4826delAGinsCA (p.Arg1609Gln) indel Conflicting interpretations of pathogenicity rs786205707 GRCh38 Chromosome 7, 92040806: 92040807
38 AKAP9 NM_005751.4(AKAP9): c.4825_4826delAGinsCA (p.Arg1609Gln) indel Conflicting interpretations of pathogenicity rs786205707 GRCh37 Chromosome 7, 91670120: 91670121
39 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh38 Chromosome 17, 70176012: 70176012
40 KCNJ2 NM_000891.2(KCNJ2): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs202067116 GRCh37 Chromosome 17, 68172153: 68172153
41 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
42 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh37 Chromosome 1, 237608788: 237608788
43 PKP2 NM_004572.3(PKP2): c.964G> T (p.Gly322Cys) single nucleotide variant Uncertain significance rs200069860 GRCh38 Chromosome 12, 32877916: 32877916
44 PKP2 NM_004572.3(PKP2): c.964G> T (p.Gly322Cys) single nucleotide variant Uncertain significance rs200069860 GRCh37 Chromosome 12, 33030850: 33030850
45 DSP NM_004415.3(DSP): c.3134G> A (p.Arg1045Gln) single nucleotide variant Uncertain significance rs374263890 GRCh37 Chromosome 6, 7579557: 7579557
46 DSP NM_004415.3(DSP): c.3134G> A (p.Arg1045Gln) single nucleotide variant Uncertain significance rs374263890 GRCh38 Chromosome 6, 7579324: 7579324
47 AKAP9 NM_005751.4(AKAP9): c.5272G> C (p.Asp1758His) single nucleotide variant Uncertain significance rs142603711 GRCh37 Chromosome 7, 91674431: 91674431
48 AKAP9 NM_005751.4(AKAP9): c.5272G> C (p.Asp1758His) single nucleotide variant Uncertain significance rs142603711 GRCh38 Chromosome 7, 92045117: 92045117
49 CACNB2 NM_000724.3(CACNB2): c.169-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374465425 GRCh38 Chromosome 10, 18498347: 18498347
50 CACNB2 NM_000724.3(CACNB2): c.169-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374465425 GRCh37 Chromosome 10, 18787276: 18787276
Sources

Expression for Ventricular Fibrillation, Paroxysmal Familial, 1

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Search GEO for disease gene expression data for Ventricular Fibrillation, Paroxysmal Familial, 1.
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Pathways for Ventricular Fibrillation, Paroxysmal Familial, 1

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Pathways related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
DAG and IP3 signaling 66
Show member pathways
 12.8 CACNA1C NGF RYR2 SLC9A1 TNNT2
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.78 CACNA1C KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
3
Cardiac conduction 66
Show member pathways
 12.34 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5
4
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.98 KCNH2 KCNQ1 NGF RYR2 SCN5A
6
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.95 CACNA1C RYR2 TNNT2
7
Salivary secretion 37
Show member pathways
 11.92 KCNE2 KCNQ1 SLC9A1
8
Potassium Channels 66
Show member pathways
 11.86 KCNH2 KCNJ5 KCNQ1
9
Pancreatic secretion 37
11.62 KCNQ1 RYR2 SLC9A1
10
Cardiac muscle contraction 37
11.6 CACNA1C RYR2 SLC9A1 TNNT2
11
Phase 0 - rapid depolarisation 66
Show member pathways
 11.43 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
12
Cardiac Progenitor Differentiation 1
11.33 NKX2-5 SCN5A TNNT2
13
Antiarrhythmic Pathway, Pharmacodynamics 61
11.02 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
14
TarBasePathway 1
10.76 KCNE1 KCNQ1
Sources

GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 1

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Cellular components related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.77 KCNE1 KCNE2 KCNH2 SCN5A SLC9A1
2 sarcolemma GO:0042383 9.58 RYR2 SCN5A SLC9A1
3 intercalated disc GO:0014704 9.43 DSP SCN5A SLC9A1
4 T-tubule GO:0030315 9.33 KCNJ5 SCN5A SLC9A1
5 Z disc GO:0030018 9.26 CACNA1C KCNE1 RYR2 SCN5A
6 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
7 plasma membrane GO:0005886 10.06 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5

Biological processes related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.97 CACNA1C KCNQ1 RYR2 SCN5A
2 potassium ion transport GO:0006813 9.95 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
3 regulation of ion transmembrane transport GO:0034765 9.95 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
4 potassium ion transmembrane transport GO:0071805 9.93 KCNE1 KCNE2 KCNH2 KCNQ1 SLC9A1
5 cellular response to drug GO:0035690 9.83 KCNE2 KCNH2 KCNQ1
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.83 CACNA1C KCNE1 KCNE2 SCN5A
7 regulation of membrane repolarization GO:0060306 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
8 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
9 cardiac conduction GO:0061337 9.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
10 membrane depolarization during action potential GO:0086010 9.77 CACNA1C KCNH2 SCN5A
11 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
12 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNE1 KCNH2 KCNQ1
14 potassium ion export GO:0071435 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
15 cellular response to epinephrine stimulus GO:0071872 9.75 KCNQ1 RYR2 SLC9A1
16 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.74 CACNA1C DSP RYR2
17 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.73 KCNE1 KCNH2 KCNQ1
18 membrane repolarization during action potential GO:0086011 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
19 cardiac muscle contraction GO:0060048 9.73 KCNH2 KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
20 cardiac muscle cell differentiation GO:0055007 9.7 NKX2-5 SLC9A1
21 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CACNA1C RYR2
22 regulation of cardiac muscle contraction GO:0055117 9.69 NKX2-5 RYR2
23 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
24 response to muscle stretch GO:0035994 9.68 RYR2 SLC9A1
25 positive regulation of sodium ion transport GO:0010765 9.68 NKX2-5 SCN5A
26 cardiovascular system development GO:0072358 9.68 KCNQ1 NKX2-5
27 calcium ion transport into cytosol GO:0060402 9.68 CACNA1C RYR2
28 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.67 CACNA1C RYR2
29 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.67 CACNA1C SCN5A
30 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.66 KCNE1 KCNE2
31 atrial cardiac muscle cell action potential GO:0086014 9.66 KCNQ1 SCN5A
32 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.65 RYR2 SLC9A1
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE1 KCNE2
34 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 KCNQ1 SCN5A
35 positive regulation of action potential GO:0045760 9.64 SCN5A SLC9A1
36 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.63 KCNJ5 KCNQ1
37 membrane depolarization during AV node cell action potential GO:0086045 9.63 CACNA1C SCN5A
38 positive regulation of the force of heart contraction GO:0098735 9.62 RYR2 SLC9A1
39 potassium ion export across plasma membrane GO:0097623 9.62 KCNH2 KCNQ1
40 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 CACNA1C SCN5A
41 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
42 ventricular cardiac muscle cell action potential GO:0086005 9.43 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
43 regulation of heart rate by cardiac conduction GO:0086091 9.23 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
44 ion transport GO:0006811 10.13 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
45 transmembrane transport GO:0055085 10.08 CACNA1C KCNH2 KCNQ1 RYR2 SCN5A SLC9A1

Molecular functions related to Ventricular Fibrillation, Paroxysmal Familial, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 CACNA1C KCNH2 RYR2 SCN5A
2 ion channel binding GO:0044325 9.78 KCNE2 KCNQ1 RYR2 SCN5A
3 calmodulin binding GO:0005516 9.77 CACNA1C KCNQ1 RYR2 SCN5A SLC9A1
4 potassium channel activity GO:0005267 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
5 voltage-gated potassium channel activity GO:0005249 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
6 protein binding, bridging GO:0030674 9.7 DSP SLC9A1 TNNT2
7 inward rectifier potassium channel activity GO:0005242 9.63 KCNE2 KCNH2 KCNJ5
8 scaffold protein binding GO:0097110 9.62 DSP KCNH2 KCNQ1 SCN5A
9 protein kinase A regulatory subunit binding GO:0034237 9.56 KCNQ1 RYR2
10 protein kinase A catalytic subunit binding GO:0034236 9.54 KCNQ1 RYR2
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNJ5 KCNQ1
12 delayed rectifier potassium channel activity GO:0005251 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
13 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.43 KCNE1 KCNH2 KCNQ1
14 voltage-gated ion channel activity GO:0005244 9.43 CACNA1C KCNE2 KCNH2 KCNJ5 KCNQ1 SCN5A
15 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.02 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
16 protein binding GO:0005515 10.39 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
Sources

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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