VF1
MCID: VNT034
MIFTS: 65

Ventricular Fibrillation, Paroxysmal Familial, 1 (VF1)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 1

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:



External Ids:

OMIM 57 603829
MedGen 42 C2751898
MeSH 44 D014693

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 1

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 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia, 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. The drug Tea has been mentioned in the context of this disorder. Affiliated tissues include heart, testes and ovary, and related phenotypes are syncope and tachycardia

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...

Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 1

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 252)
# Related Disease Score Top Affiliating Genes
1 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 32.7 DSP KCNH2 KCNQ1 RYR2 SCN5A
2 catecholaminergic polymorphic ventricular tachycardia 32.3 KCNH2 RYR2 SCN5A
3 long qt syndrome 1 31.2 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
4 syncope 30.5 KCNH2 KCNQ1 SCN5A
5 right bundle branch block 30.5 CACNA1C SCN5A
6 cardiac arrest 30.5 DSP KCNH2 KCNQ1 RYR2 SCN5A TNNT2
7 cardiac conduction defect 30.3 DSP KCNH2 KCNQ1 RYR2 SCN5A
8 arrhythmogenic right ventricular cardiomyopathy 30.3 DSP KCNH2 RYR2 SCN5A
9 hypertrophic cardiomyopathy 30.1 CACNA1C DSP RYR2 SCN5A TNNT2
10 atrial standstill 1 29.9 DSP SCN5A TNNT2
11 atrial fibrillation 29.8 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
12 brugada syndrome 29.8 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13 short qt syndrome 29.7 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
14 long qt syndrome 29.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
15 left ventricular noncompaction 29.5 DSP KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
16 timothy syndrome 29.5 CACNA1C KCNE1 KCNH2 KCNQ1
17 atrioventricular block 29.4 KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5 SCN5A
18 myocardial stunning 29.4 KCNJ5 SLC9A1
19 dilated cardiomyopathy 29.0 CACNA1C CHKB DSP KCNH2 KCNQ1 NKX2-5
20 heart disease 28.7 CACNA1C DSP KCNE2 KCNH2 KCNQ1 NKX2-5
21 early repolarization associated with ventricular fibrillation 12.6
22 ventricular fibrillation, paroxysmal familial, 2 12.5
23 idiopathic ventricular fibrillation, non brugada type 12.4
24 ventricular tachycardia, catecholaminergic polymorphic, 2 11.7
25 ventricular tachycardia, catecholaminergic polymorphic, 4 11.7
26 premature ovarian failure 1 11.5
27 polycystic ovary syndrome 11.5
28 paroxysmal ventricular fibrillation 11.1
29 ventricular tachycardia, familial 11.1
30 cardiomyopathy, infantile histiocytoid 11.1
31 cardiac arrhythmia, ankyrin-b-related 11.1
32 ovarian hyperstimulation syndrome 10.5
33 infertility 10.4
34 endometriosis 10.4
35 myocardial infarction 10.4
36 wolff-parkinson-white syndrome 10.4
37 acute myocardial infarction 10.3
38 progressive familial heart block, type ia 10.3
39 hypokalemia 10.3
40 progressive familial heart block, type ib 10.3
41 coronary artery vasospasm 10.3
42 familial progressive cardiac conduction defect 10.2 NKX2-5 SCN5A
43 adenomyosis 10.2
44 anxiety 10.2
45 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 DSP RYR2
46 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 DSP RYR2
47 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 DSP RYR2
48 body mass index quantitative trait locus 1 10.2
49 orthostatic intolerance 10.2
50 arrhythmogenic right ventricular dysplasia, familial, 1 10.2 DSP RYR2

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

Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 1

Clinical features from OMIM:

603829

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

32
# Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 tachycardia 32 HP:0001649
3 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 CACNA1C DSP KCNH2 KCNJ5 KCNQ1 NGF
2 growth/size/body region MP:0005378 10 DSP KCNE2 KCNH2 KCNQ1 KNG1 NGF
3 embryo MP:0005380 9.87 CACNA1C DSP KCNH2 NKX2-5 RYR2 SCN5A
4 homeostasis/metabolism MP:0005376 9.85 CACNA1C CHKB KCNE2 KCNH2 KCNQ1 NGF
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

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 1

Drugs for Ventricular Fibrillation, Paroxysmal Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tea

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

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 1

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

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

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 1

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

41
Heart, Testes, Ovary, Uterus, Brain, Bone, Thyroid

Publications for Ventricular Fibrillation, Paroxysmal Familial, 1

Articles related to Ventricular Fibrillation, Paroxysmal Familial, 1:

(show top 50) (show all 1320)
# Title Authors Year
1
Reflections on 40 years of IVF. ( 30461151 )
2019
2
The prevalence of job stressors among nurses in private in vitro fertilization (IVF) centres. ( 30534393 )
2019
3
Risk of spontaneous preterm birth in IVF-conceived twin pregnancies. ( 28889776 )
2019
4
Anthracycline-induced acute myocarditis and ventricular fibrillation arrest. ( 29194712 )
2018
5
Progression of ECG abnormalities Associated with Initial Ventricular Fibrillation in Asymptomatic Patients with Brugada Syndrome. ( 29953954 )
2018
6
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? ( 29032884 )
2018
7
Ventricular Fibrillation Associated With Dynamic Changes in J-Point Elevation in a Patient With Silent Thyroiditis. ( 29383332 )
2018
8
Right Ventricular Outflow Tract Electroanatomical Abnormalities Predict Ventricular Fibrillation Inducibility in Brugada Syndrome. ( 29437762 )
2018
9
Twenty-five year trends (1986-2011) in hospital incidence and case-fatality rates of ventricular tachycardia and ventricular fibrillation complicating acute myocardial infarction. ( 30471486 )
2018
10
Impact of the angiographic burden on the incidence of out-of-hospital ventricular fibrillation in patients with acute myocardial infarction. ( 30006656 )
2018
11
Adenomyosis and IVF/ICSI treatment: clinical considerations and recommendations. ( 30063420 )
2018
12
Does presence of adenomyosis affect reproductive outcome in IVF cycles? A retrospective analysis of 973 patients. ( 30446308 )
2018
13
A Rare Desmoglein-2 Gene Mutation in Arrhythmogenic Right Ventricular Cardiomyopathy Inciting Incessant Ventricular Fibrillation. ( 30524916 )
2018
14
SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta-analysis. ( 30327691 )
2018
15
Efficacy of Endocardial Ablation of Drug-Resistant Ventricular Fibrillation in Brugada Syndrome. ( 30354308 )
2018
16
Evaluation of recurrent ventricular tachyarrhythmias in patients who survived out-of-hospital cardiac arrest due to ventricular fibrillation: eligibility for subcutaneous implantable defibrillator therapy. ( 30478809 )
2018
17
Ventricular Fibrillation Cardiac Arrest in African American Male with Apical Hypertrophic Cardiomyopathy. ( 30430056 )
2018
18
Ventricular fibrillation recorded and analysed within an area the size of a mobile phone: could it enable cardiac arrest recognition? ( 30239348 )
2018
19
Surviving refractory out-of-hospital ventricular fibrillation cardiac arrest: Critical care and extracorporeal membrane oxygenation management. ( 30171974 )
2018
20
The Heart Sentinelâ„¢ app for detection and automatic alerting in cardiac arrest during outdoor sports: Field tests and ventricular fibrillation simulation results. ( 30025655 )
2018
21
Association between ventricular fibrillation amplitude immediately prior to defibrillation and defibrillation success in out-of-hospital cardiac arrest. ( 29910058 )
2018
22
Initial Phase NT-proBNP, but Not Copeptin and High-Sensitivity Cardiac Troponin-T Yielded Diagnostic and Prognostic Information in Addition to Clinical Assessment of Out-of-Hospital Cardiac Arrest Patients With Documented Ventricular Fibrillation. ( 29930943 )
2018
23
Hands-On Defibrillation Skills of Pediatric Acute Care Providers During a Simulated Ventricular Fibrillation Cardiac Arrest Scenario. ( 29740571 )
2018
24
Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation. ( 29566157 )
2018
25
Rhythm profiles and survival after out-of-hospital ventricular fibrillation cardiac arrest. ( 29408303 )
2018
26
Out-of-Hospital Cardiac Arrest Due to Ventricular Fibrillation in a 5-Year-Old Pediatric Patient. ( 29489604 )
2018
27
How much can synthetic cannabinoid damage the heart? A case of cardiogenic shock following resistant ventricular fibrillation after synthetic cannabinoid use. ( 29479764 )
2018
28
Abdominal Cocoon Syndrome following Primary Subfertility Management with IVF-ET. ( 30387475 )
2018
29
Spontaneous and IVF pregnancies have comparable first trimester screening profiles for Down syndrome ( 30206047 )
2018
30
Ovarian endometriosis and infertility: in vitro fertilization (IVF) or surgery as the first approach? ( 30503109 )
2018
31
Predictors of IVF/ICSI success following treatment of endometriosis as the cause of primary infertility. ( 30084475 )
2018
32
Does the type of GnRH analogue used, affect live birth rates in women with endometriosis undergoing IVF/ICSI treatment, according to the rAFS stage? ( 29648476 )
2018
33
Ventricular Fibrillation Induced by Coronary Vasospasm in a Patient with Early Repolarization and Hyperthyroidism. ( 30101915 )
2018
34
Hypertrophic cardiomyopathy: Ischemia progressing to ventricular fibrillation. ( 30228960 )
2018
35
Cost-effectiveness modelling of IVF in couples with unexplained infertility. ( 30361048 )
2018
36
Insulin Reduces Reaction of Follicular Granulosa Cell to FSH Stimulation in Obesity-Related Infertility Women during IVF. ( 30476103 )
2018
37
Impact of Metformin on IVF Outcomes in Overweight and Obese Women With Polycystic Ovary Syndrome: A Randomized Double-Blind Controlled Trial. ( 29576001 )
2018
38
Leukaemia inhibitory factor in serum and follicular fluid of women with polycystic ovary syndrome and its correlation with IVF outcome. ( 29397316 )
2018
39
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility. ( 30496390 )
2018
40
A Case of Ventricular Fibrillation in a Frail Patient with Chronic Obstructive Pulmonary Disease, Obstructive Sleep Apnea Syndrome, and Electrolytic Disorder. ( 29705780 )
2018
41
Self-terminating ventricular fibrillation recorded by an implantable loop recorder as a cause of syncope - A case report. ( 29997000 )
2018
42
Recurrent premature ventricular contraction-induced ventricular fibrillation and resuscitated sudden death in a 26-year-old pregnant woman with bileaflet mitral valve prolapse. ( 29876289 )
2018
43
Mild ovarian stimulation with letrozole plus fixed dose human menopausal gonadotropin prior to IVF/ICSI for infertile non-obese women with polycystic ovarian syndrome being pre-treated with metformin: a pilot study. ( 30217209 )
2018
44
Influence of body mass index and polycystic ovarian syndrome on ICSI/IVF treatment outcomes: A study conducted in Pakistani women. ( 30288487 )
2018
45
Early prognostic value of an Algorithm based on spectral Variables of Ventricular fibrillAtion from the EKG of patients with suddEn cardiac death: A multicentre observational study (AWAKE). ( 29885765 )
2018
46
Validation of the blood gas analyzer for pH measurements in IVF culture medium: Prevent suboptimal culture conditions. ( 30418977 )
2018
47
Impact of asymptomatic genital tract infections on in vitro Fertilization (IVF) outcome. ( 30444931 )
2018
48
A randomized triple blind controlled trial comparing the live birth rate of IVF following brief incubation versus standard incubation of gametes. ( 30445454 )
2018
49
Extracellular microRNAs profile in human follicular fluid and IVF outcomes. ( 30451969 )
2018
50
The Deferred Embryo Transfer Strategy Seems Not to be a Good Option After Repeated IVF/ICSI Cycle Failures. ( 30458686 )
2018

Variations for Ventricular Fibrillation, Paroxysmal Familial, 1

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 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh37 Chromosome 11, 74168361: 74168361
2 KCNE3 NM_005472.4(KCNE3): c.248G> A (p.Arg83His) single nucleotide variant Conflicting interpretations of pathogenicity rs17215437 GRCh38 Chromosome 11, 74457316: 74457316
3 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
4 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
5 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh37 Chromosome 1, 237664074: 237664074
6 RYR2 NM_001035.2(RYR2): c.2267G> A (p.Ser756Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922623 GRCh38 Chromosome 1, 237500774: 237500774
7 MYH7 NM_000257.3(MYH7): c.3337-3dupC duplication Benign rs45504498 GRCh37 Chromosome 14, 23889446: 23889446
8 MYH7 NM_000257.3(MYH7): c.3337-3dupC duplication Benign rs45504498 GRCh38 Chromosome 14, 23420237: 23420237
9 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh37 Chromosome 10, 112579844: 112579849
10 RBM20 NM_001134363.2(RBM20): c.2565_2570delACAGGA (p.Gln856_Glu857del) deletion Uncertain significance rs397516603 GRCh38 Chromosome 10, 110820086: 110820091
11 TTN NM_001256850.1(TTN): c.32550_32552dupAGA (p.Glu10855_Tyr10856insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh37 Chromosome 2, 179544686: 179544688
12 TTN NM_001256850.1(TTN): c.32550_32552dupAGA (p.Glu10855_Tyr10856insGlu) duplication Conflicting interpretations of pathogenicity rs368327166 GRCh38 Chromosome 2, 178679959: 178679961
13 SCN5A NM_000335.4(SCN5A): c.1199G> C (p.Gly400Ala) single nucleotide variant not provided rs199473106 GRCh37 Chromosome 3, 38647581: 38647581
14 SCN5A NM_000335.4(SCN5A): c.1199G> C (p.Gly400Ala) single nucleotide variant not provided rs199473106 GRCh38 Chromosome 3, 38606090: 38606090
15 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
16 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
17 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh37 Chromosome 3, 38645378: 38645378
18 SCN5A NM_198056.2(SCN5A): c.1715C> A (p.Ala572Asp) single nucleotide variant Benign/Likely benign rs36210423 GRCh38 Chromosome 3, 38603887: 38603887
19 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh37 Chromosome 12, 2613692: 2613692
20 CACNA1C NM_001167623.1(CACNA1C): c.1204G> A (p.Gly402Ser) single nucleotide variant Pathogenic rs587782933 GRCh38 Chromosome 12, 2504526: 2504526
21 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh37 Chromosome 20, 42788704: 42788704
22 JPH2 NM_020433.4(JPH2): c.723C> G (p.Ser241Arg) single nucleotide variant Uncertain significance rs587782952 GRCh38 Chromosome 20, 44160064: 44160064
23 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh37 Chromosome 17, 39912444: 39912444
24 JUP NM_002230.2(JUP): c.2069A> G (p.Asn690Ser) single nucleotide variant Uncertain significance rs147628503 GRCh38 Chromosome 17, 41756192: 41756192
25 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh37 Chromosome 1, 236850055: 236850055
26 ACTN2 NM_001278343.1(ACTN2): c.82C> T (p.Arg28Cys) single nucleotide variant Uncertain significance rs730880040 GRCh38 Chromosome 1, 236686755: 236686755
27 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh37 Chromosome 1, 237991725: 237991725
28 RYR2 NM_001035.2(RYR2): c.14635C> A (p.Gln4879Lys) single nucleotide variant Uncertain significance rs730880200 GRCh38 Chromosome 1, 237828425: 237828425
29 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh37 Chromosome 6, 7584307: 7584307
30 DSP NM_004415.3(DSP): c.6812A> C (p.Lys2271Thr) single nucleotide variant Uncertain significance rs730880089 GRCh38 Chromosome 6, 7584074: 7584074
31 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh37 Chromosome 7, 150655597: 150655597
32 KCNH2 NM_000238.3(KCNH2): c.473-7C> T single nucleotide variant Likely benign rs146570628 GRCh38 Chromosome 7, 150958509: 150958509
33 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh37 Chromosome 7, 91643610: 91643610
34 AKAP9 NM_005751.4(AKAP9): c.3580G> A (p.Ala1194Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs139965373 GRCh38 Chromosome 7, 92014296: 92014296
35 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh37 Chromosome 10, 112581444: 112581444
36 RBM20 NM_001134363.2(RBM20): c.3067G> T (p.Asp1023Tyr) single nucleotide variant Uncertain significance rs730880186 GRCh38 Chromosome 10, 110821686: 110821686
37 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh37 Chromosome 10, 18823006: 18823006
38 CACNB2 NM_201596.2(CACNB2): c.1056G> A (p.Ala352=) single nucleotide variant Uncertain significance rs730880058 GRCh38 Chromosome 10, 18534077: 18534077
39 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh37 Chromosome 10, 75863605: 75863605
40 VCL NM_014000.2(VCL): c.2050A> G (p.Arg684Gly) single nucleotide variant Uncertain significance rs730880249 GRCh38 Chromosome 10, 74103847: 74103847
41 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Conflicting interpretations of pathogenicity rs138901574 GRCh37 Chromosome 12, 32974461: 32974461
42 PKP2 NM_004572.3(PKP2): c.1974A> G (p.Gln658=) single nucleotide variant Conflicting interpretations of pathogenicity rs138901574 GRCh38 Chromosome 12, 32821527: 32821527
43 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh38 Chromosome 17, 41757751: 41757751
44 JUP NM_002230.2(JUP): c.1807G> T (p.Val603Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200327969 GRCh37 Chromosome 17, 39914003: 39914003
45 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh38 Chromosome 19, 35033851: 35033851
46 SCN1B NM_001037.4(SCN1B): c.448+112G> A single nucleotide variant Conflicting interpretations of pathogenicity rs72558026 GRCh37 Chromosome 19, 35524755: 35524755
47 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh38 Chromosome 19, 49183151: 49183151
48 TRPM4 NM_017636.3(TRPM4): c.1682A> C (p.Asp561Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs56355369 GRCh37 Chromosome 19, 49686408: 49686408
49 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh37 Chromosome 20, 31997968: 31997968
50 SNTA1 NM_003098.2(SNTA1): c.1210G> A (p.Ala404Thr) single nucleotide variant Uncertain significance rs730880217 GRCh38 Chromosome 20, 33410162: 33410162

Expression for Ventricular Fibrillation, Paroxysmal Familial, 1

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

Pathways for Ventricular Fibrillation, Paroxysmal Familial, 1

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CACNA1C NGF RYR2 SLC9A1 TNNT2
2
Show member pathways
12.43 CACNA1C KCNE1 KCNJ5 KCNQ1 RYR2 SCN5A
3
Show member pathways
12.34 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 NKX2-5
4 12.15 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5 11.98 KCNH2 KCNQ1 NGF RYR2 SCN5A
6
Show member pathways
11.95 CACNA1C RYR2 TNNT2
7
Show member pathways
11.92 KCNE2 KCNQ1 SLC9A1
8
Show member pathways
11.86 KCNH2 KCNJ5 KCNQ1
9 11.62 KCNQ1 RYR2 SLC9A1
10 11.6 CACNA1C RYR2 SLC9A1 TNNT2
11
Show member pathways
11.53 CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
12 11.33 NKX2-5 SCN5A TNNT2
13 11.02 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
14 10.76 KCNE1 KCNQ1

GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 1

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 9.8 KCNE1 KCNE2 KCNH2 SCN5A SLC9A1
2 intercalated disc GO:0014704 9.5 DSP SCN5A SLC9A1
3 Z disc GO:0030018 9.46 CACNA1C KCNE1 RYR2 SCN5A
4 T-tubule GO:0030315 9.43 KCNJ5 SCN5A SLC9A1
5 sarcolemma GO:0042383 9.26 CACNA1C RYR2 SCN5A SLC9A1
6 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
7 plasma membrane GO:0005886 10.11 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.96 CACNA1C KCNQ1 RYR2 SCN5A
2 potassium ion transport GO:0006813 9.93 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
3 potassium ion transmembrane transport GO:0071805 9.92 KCNE1 KCNE2 KCNH2 KCNQ1 SLC9A1
4 regulation of ion transmembrane transport GO:0034765 9.91 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
5 cellular response to drug GO:0035690 9.82 KCNE2 KCNH2 KCNQ1
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.81 CACNA1C KCNE1 KCNE2 SCN5A
7 potassium ion export across plasma membrane GO:0097623 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
8 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
9 regulation of potassium ion transmembrane transport GO:1901379 9.77 KCNE1 KCNE2 KCNH2
10 positive regulation of potassium ion transmembrane transport GO:1901381 9.76 KCNE1 KCNH2 KCNQ1
11 membrane repolarization GO:0086009 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
12 cellular response to epinephrine stimulus GO:0071872 9.75 KCNQ1 RYR2 SLC9A1
13 regulation of membrane repolarization GO:0060306 9.74 KCNE2 KCNH2 KCNQ1
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.73 CACNA1C DSP RYR2
15 cardiac muscle contraction GO:0060048 9.73 KCNH2 KCNQ1 NKX2-5 RYR2 SCN5A TNNT2
16 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 KCNE1 KCNH2 KCNQ1
17 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.72 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18 membrane repolarization during action potential GO:0086011 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
19 cardiac muscle cell differentiation GO:0055007 9.69 NKX2-5 SLC9A1
20 positive regulation of heart rate GO:0010460 9.69 KCNQ1 RYR2
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 9.68 NKX2-5 RYR2
23 cardiovascular system development GO:0072358 9.68 KCNQ1 NKX2-5
24 membrane depolarization during action potential GO:0086010 9.68 KCNH2 SCN5A
25 positive regulation of sodium ion transport GO:0010765 9.68 NKX2-5 SCN5A
26 response to muscle stretch GO:0035994 9.67 RYR2 SLC9A1
27 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.67 KCNE1 KCNE2
28 calcium ion transport into cytosol GO:0060402 9.67 CACNA1C RYR2
29 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.66 CACNA1C RYR2
30 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.66 CACNA1C SCN5A
31 atrial cardiac muscle cell action potential GO:0086014 9.65 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 9.64 KCNE1 KCNE2
34 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.63 KCNQ1 SCN5A
35 membrane depolarization during AV node cell action potential GO:0086045 9.63 CACNA1C SCN5A
36 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.62 KCNJ5 KCNQ1
37 positive regulation of action potential GO:0045760 9.62 SCN5A SLC9A1
38 positive regulation of the force of heart contraction GO:0098735 9.61 RYR2 SLC9A1
39 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.61 CACNA1C SCN5A
40 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.55 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
41 ventricular cardiac muscle cell action potential GO:0086005 9.43 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
42 regulation of heart rate by cardiac conduction GO:0086091 9.23 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5
43 ion transport GO:0006811 10.09 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
44 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 calmodulin binding GO:0005516 9.83 CACNA1C KCNQ1 RYR2 SCN5A SLC9A1
2 ion channel activity GO:0005216 9.8 CACNA1C KCNH2 RYR2 SCN5A
3 potassium channel activity GO:0005267 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
4 protein binding, bridging GO:0030674 9.71 DSP SLC9A1 TNNT2
5 voltage-gated potassium channel activity GO:0005249 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.67 DSP KCNH2 KCNQ1 SCN5A
7 inward rectifier potassium channel activity GO:0005242 9.65 KCNE2 KCNH2 KCNJ5
8 ion channel binding GO:0044325 9.65 KCNE1 KCNE2 KCNQ1 RYR2 SCN5A
9 protein kinase A regulatory subunit binding GO:0034237 9.56 KCNQ1 RYR2
10 protein kinase A catalytic subunit binding GO:0034236 9.55 KCNQ1 RYR2
11 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.51 KCNJ5 KCNQ1
12 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.5 KCNE1 KCNH2 KCNQ1
13 delayed rectifier potassium channel activity GO:0005251 9.46 KCNE1 KCNE2 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 10.37 CACNA1C DSP KCNE1 KCNE2 KCNH2 KCNJ5

Sources for Ventricular Fibrillation, Paroxysmal Familial, 1

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
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