ATFB
MCID: FML001
MIFTS: 58

Familial Atrial Fibrillation (ATFB) malady

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Familial Atrial Fibrillation

Aliases & Descriptions for Familial Atrial Fibrillation:

Name: Familial Atrial Fibrillation 12 50 24 25 56 14 69
Atrial Fibrillation, Familial 50 29 52
Atfb 12 50
Atrial Fibrillation Autosomal Dominant 50
Autosomal Dominant Atrial Fibrillation 50
Atrial Fibrillation, Familial, 1 69
Auricular Fibrillation 25
Atrial Fibrillation 69

Characteristics:

Orphanet epidemiological data:

56
familial atrial fibrillation
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050650
Orphanet 56 ORPHA334
ICD10 via Orphanet 34 I48.9

Summaries for Familial Atrial Fibrillation

NIH Rare Diseases : 50 familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. it is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). this causes a fast and irregular heartbeat (arrhythmia). signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. affected people also have an increased risk of stroke and sudden death. while complications may occur at any age, some affected people never have associated health problems. familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. it is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. last updated: 11/9/2015

MalaCards based summary : Familial Atrial Fibrillation, also known as atrial fibrillation, familial, is related to atrial fibrillation, familial, 10 and atrial fibrillation, familial, 3, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Familial Atrial Fibrillation is MYL4 (Myosin Light Chain 4), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Heparin and Mannitol have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 An atrial fibrillation that has material basis in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.

Genetics Home Reference : 25 Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.

Wikipedia : 71 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Related Diseases for Familial Atrial Fibrillation

Diseases in the Atrial Fibrillation family:

Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 5
Atrial Fibrillation 15 Atrial Fibrillation, Familial, 2
Atrial Fibrillation, Familial, 1 Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 14 Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 12 Atrial Fibrillation, Familial, 8
Atrial Fibrillation, Familial, 9 Atrial Fibrillation, Familial, 13
Atrial Fibrillation, Familial, 4 Familial Atrial Fibrillation
Kcne5-Related Atrial Fibrillation Nppa-Related Familial Atrial Fibrillation 6
Scn2b-Related Familial Atrial Fibrillation Abcc9-Related Familial Atrial Fibrillation
Gja5-Related Familial Atrial Fibrillation Kcna5-Related Familial Atrial Fibrillation
Kcne2-Related Familial Atrial Fibrillation Kcnj2-Related Familial Atrial Fibrillation
Kcnq1-Related Familial Atrial Fibrillation Myl4-Related Familial Atrial Fibrillation
Scn1b-Related Familial Atrial Fibrillation Scn3b-Related Familial Atrial Fibrillation
Scn5a-Related Familial Atrial Fibrillation

Diseases related to Familial Atrial Fibrillation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
id Related Disease Score Top Affiliating Genes
1 atrial fibrillation, familial, 10 33.7 KCNE1 KCNE2 KCNQ1 SCN2B SCN3B SCN4B
2 atrial fibrillation, familial, 3 31.6 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN3B
3 atrial fibrillation, familial, 6 12.3
4 kcnq1-related familial atrial fibrillation 12.0
5 abcc9-related familial atrial fibrillation 12.0
6 gja5-related familial atrial fibrillation 12.0
7 kcna5-related familial atrial fibrillation 12.0
8 kcne2-related familial atrial fibrillation 12.0
9 kcnj2-related familial atrial fibrillation 12.0
10 myl4-related familial atrial fibrillation 12.0
11 scn1b-related familial atrial fibrillation 12.0
12 scn3b-related familial atrial fibrillation 12.0
13 scn5a-related familial atrial fibrillation 12.0
14 nppa-related familial atrial fibrillation 6 12.0
15 scn2b-related familial atrial fibrillation 12.0
16 atrial fibrillation, familial, 11 11.6
17 atrial fibrillation, familial, 12 11.6
18 atrial fibrillation, familial, 7 11.0
19 atrial fibrillation, familial, 9 11.0
20 atrial fibrillation, familial, 4 11.0
21 atrial fibrillation, familial, 1 11.0
22 atrial fibrillation, familial, 14 11.0
23 atrial fibrillation, familial, 13 11.0
24 atrial fibrillation 10.5
25 cerebral creatine deficiency syndrome 10.4 KCNE1 KCNJ2 KCNQ1
26 ventricular fibrillation, familial, 1 10.3 GJA5 SCN5A
27 multicentric carpotarsal osteolysis syndrome 10.3 KCNE1 KCNE2 KCNQ1 SCN5A
28 fatal infantile encephalomyopathy 10.3 NKX2-5 SCN5A
29 persistent eustachian valve 10.3 GATA4 GATA6
30 mosaic trisomy 1 10.3 GJA5 NPPA SCN5A
31 migraine with aura 9 10.3 KCNQ1 SCN5A
32 familial sick sinus syndrome 10.3 KCNJ2 KCNQ1 NPPA SCN5A
33 brugada syndrome 1 10.3 KCNE1 KCNE2 KCNQ1 SCN5A
34 uterine fibroid 10.3 SCN2B SCN3B SCN5A
35 congenital benign spinal muscular atrophy dominant 10.3 GATA4 GATA6
36 sick sinus syndrome 1 10.3 KCNE1 KCNE2 KCNQ1 SCN5A
37 tardbp-related frontotemporal dementia 10.3 KCNE1 KCNJ2 KCNQ1 SCN5A
38 autosomal dominant nocturnal frontal lobe epilepsy 2 10.3 KCNE2 KCNJ2 KCNQ1 SCN5A
39 pauciarticular chronic arthritis 10.3 GATA4 GATA6
40 t-cell large granular lymphocyte leukemia 10.3 KCNE1 KCNE2 KCNQ1 SCN5A
41 isolated encephalocele 10.3 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
42 keppen-lubinsky syndrome 10.3 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
43 parkinson disease 20, early-onset 10.3 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
44 specific language impairment 4 10.3 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN5A
45 sinoatrial node disease 10.3 GJA5 SCN5A
46 ichthyosis lamellar 3 10.3 GATA5 NKX2-5 NPPA
47 familial periodic paralysis 10.3 GJA5 KCNA5 KCNE1 KCNQ1 SCN5A
48 combined oxidative phosphorylation deficiency 17 10.3 NKX2-5 SCN5A
49 vulvar sebaceous carcinoma 10.3 GATA4 GATA6 NKX2-6
50 proximal renal tubular acidosis 10.3 KCNJ2 KCNQ1

Comorbidity relations with Familial Atrial Fibrillation via Phenotypic Disease Network (PDN): (show top 50) (show all 177)


Accessory Nerve Disease Acquired Polycythemia
Acquired Thrombocytopenia Active Peptic Ulcer Disease
Acute Conjunctivitis Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Acute Myocardial Infarction Adrenal Cortical Hypofunction
Alcohol Abuse Alcoholic Cardiomyopathy
Alcoholic Liver Cirrhosis Amyloidosis
Anthracosis Anxiety Disorder
Aortic Aneurysm Aortic Atherosclerosis
Aortic Valve Disease 2 Aortic Valve Insufficiency
Aplastic Anemia Asbestosis
Asthma, Phf11-Related Atrial Tachyarrhythmia with Short Pr Interval
Atrioventricular Block Autoimmune Hemolytic Anemia
Bacteremia Basilar Artery Insufficiency
Benign Essential Hypertension Bleeding Disorder, Platelet-Type, 11
Blepharitis Bronchiectasis
Bronchitis Bronchopneumonia
Candidiasis Cardiac Arrest
Cardiogenic Shock Cardiomyopathy, Familial Hypertrophic
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Cholangitis
Cholecystitis Chronic Kidney Failure
Chronic Myocardial Ischemia Chronic Pulmonary Heart Disease
Chronic Rheumatic Pericarditis Chronic Ulcer of Skin
Colorectal Cancer Congenital Aortic Valve Insufficiency

Graphical network of the top 20 diseases related to Familial Atrial Fibrillation:



Diseases related to Familial Atrial Fibrillation

Symptoms & Phenotypes for Familial Atrial Fibrillation

UMLS symptoms related to Familial Atrial Fibrillation:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 KCNQ1 NKX2-5 NKX2-6 NPPA NUP155 PITX2
2 homeostasis/metabolism MP:0005376 10.13 KCNQ1 MYL4 NKX2-5 NKX2-6 NPPA PITX2
3 muscle MP:0005369 9.93 ABCC9 GATA4 GATA5 GATA6 GJA5 KCNA5
4 digestive/alimentary MP:0005381 9.92 GATA4 GATA5 GJA5 KCNE2 KCNJ2 KCNQ1
5 normal MP:0002873 9.61 GATA4 GATA6 GJA5 KCNQ1 NKX2-5 NKX2-6
6 respiratory system MP:0005388 9.17 NKX2-5 NKX2-6 PITX2 GATA4 GATA6 GJA5

Drugs & Therapeutics for Familial Atrial Fibrillation

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

(show top 50) (show all 483)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
2
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
3
Simvastatin Approved Phase 4,Phase 2 79902-63-9 54454
4
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
5
Digoxin Approved Phase 4,Phase 3,Phase 2,Phase 1 20830-75-5 30322 2724385
6
Colchicine Approved Phase 4,Phase 3,Phase 2 64-86-8 6167 2833
7
Iron Approved Phase 4,Phase 3 7439-89-6 23925
8
Salicylic acid Approved, Vet_approved Phase 4,Phase 3 69-72-7 338
9
Losartan Approved Phase 4,Phase 3 114798-26-4 3961
10
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
11
Candesartan Approved Phase 4,Phase 3 139481-59-7 2541
12
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
13
Amlodipine Approved Phase 4 88150-42-9 2162
14
Irbesartan Approved, Investigational Phase 4,Phase 3 138402-11-6 3749
15
Carvedilol Approved, Investigational Phase 4,Phase 3 72956-09-3 2585
16
Bisoprolol Approved Phase 4,Early Phase 1 66722-44-9 2405
17
Metoprolol Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 37350-58-6, 51384-51-1 4171
18
Diltiazem Approved Phase 4,Phase 3,Phase 1 42399-41-7 39186
19
Amiodarone Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 1951-25-3 2157
20
Nebivolol Approved, Investigational Phase 4 152520-56-4, 99200-09-6, 118457-14-0 71301
21
Warfarin Approved Phase 4,Phase 3,Phase 2 81-81-2 6691 54678486
22
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
23
Phenylephrine Approved Phase 4,Phase 2 59-42-7 6041
24
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
25
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2 58-61-7 60961
26
Oxymetazoline Approved Phase 4,Phase 2 1491-59-4 4636
27
Ephedrine Approved Phase 4 299-42-3 9294
28
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
29
Sevoflurane Approved, Vet_approved Phase 4,Phase 1,Phase 2 28523-86-6 5206
30
Procainamide Approved Phase 4,Phase 3 51-06-9 4913
31
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
32
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
33
Acenocoumarol Approved Phase 4,Phase 3,Phase 2 152-72-7 9052 54676537
34
Phenprocoumon Approved Phase 4,Phase 3 435-97-2 9908 54680692
35
Propafenone Approved Phase 4,Phase 3,Phase 2,Phase 1 54063-53-5 4932
36
Rivaroxaban Approved Phase 4,Phase 3,Phase 2,Phase 1 366789-02-8
37
Sotalol Approved Phase 4,Phase 3,Phase 2,Phase 1 959-24-0, 3930-20-9 5253
38
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
39
Ranolazine Approved, Investigational Phase 4,Phase 2,Phase 3 142387-99-3, 95635-55-5 56959
40
Pseudoephedrine Approved Phase 4 90-82-4 7028
41
Menthol Approved Phase 4,Phase 3,Phase 2 2216-51-5 16666
42
Ibutilide Approved Phase 4 122647-32-9, 122647-31-8 60753
43
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
44
Ticagrelor Approved Phase 4,Phase 3,Phase 1 274693-27-5 9871419
45
Dalteparin Approved Phase 4,Phase 3,Phase 2 9041-08-1
46
Norepinephrine Approved Phase 4,Phase 3 51-41-2 439260
47
Isoproterenol Approved Phase 4,Phase 2 7683-59-2 3779
48
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
49
Ezetimibe Approved Phase 4 163222-33-1 150311
50
Zinc Approved Phase 4 7440-66-6 32051 23994

Interventional clinical trials:

(show top 50) (show all 1906)
id Name Status NCT ID Phase
1 Cardioversion vs. Catheter Ablation for Persistent Atrial Fibrillation Unknown status NCT00196209 Phase 4
2 Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer Unknown status NCT00724581 Phase 4
3 Line Versus Spot Ablation in Persistent Atrial Fibrillation Unknown status NCT00196157 Phase 4
4 Atrial Fibrillation and the Risk for Neurological Complications Unknown status NCT00357227 Phase 4
5 Left Atrial Ablation of Paroxysmal Atrial Fibrillation With Implantable Loop Recorder Follow Up Study: The LAAPITUP 2 Study Unknown status NCT01504451 Phase 4
6 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4
7 Cardiac Resynchronization in Atrial Fibrillation Trial - a Pilot Study Unknown status NCT01850277 Phase 4
8 Vernakalant Versus Flecainide: Atrial Contractility Unknown status NCT01646281 Phase 4
9 Efficacy and Safety Study of Catheter Ablation for Atrial Fibrillation Unknown status NCT01113294 Phase 4
10 Catheter Ablation Versus Antiarrythmic Drugs for Atrial Fibrillation in China Unknown status NCT01341353 Phase 4
11 Dronedarone in Pacemakers Patients With Paroxysmal Atrial Fibrillation Unknown status NCT01070667 Phase 4
12 Pulmonary Vein (PV) -Isolation: Arrhythmogenic Vein(s) Versus All Veins Unknown status NCT00605748 Phase 4
13 DAPPAR AF Dabigatran for Peri Procedural Anticoagulation During Radiofrequency Ablation of Atrial Fibrillation Unknown status NCT01468155 Phase 4
14 Low Dose of Diltiazem for Rate Control of Atrial Fibrillation Unknown status NCT00834925 Phase 4
15 Rivaroxaban in Patients With Atrial Fibrillation and Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Unknown status NCT02334254 Phase 4
16 The Contact PVI Study: Use of Tissue Contact Data to Guide Atrial Fibrillation Ablation Unknown status NCT01629056 Phase 4
17 N-3 Fatty Acids for the Prevention of Atrial Fibrillation in Patients With Acute Heart Failure Unknown status NCT00692718 Phase 4
18 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
19 EvaluAtion of Predictive Value of Multisite Intracardiac EchoCardiography During Imaging of Structure and funCTION of Left Atrial Appendage in Comparison to Transesophageal Echocardiography Unknown status NCT01371279 Phase 4
20 Irbesartan and Adhesion Molecules in AF Unknown status NCT00613496 Phase 4
21 Anticoagulation in Stent Intervention Unknown status NCT01141153 Phase 4
22 Corticosteroid Pulse After Ablation Unknown status NCT00807586 Phase 4
23 Mode Evaluation in Sick Sinus Syndrome Trial (MODEST) Unknown status NCT00161551 Phase 4
24 Arrhythmia Restart Prevention and RatE STabilization in Atrial Fibrillation Unknown status NCT00224341 Phase 4
25 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
26 Treatment of Subclinical Hyperthyroidism Unknown status NCT00213720 Phase 4
27 The Efficacy and Safety of CARTO 3D Mapping System Versus Conventional Method in AF and VT Unknown status NCT00959205 Phase 4
28 Triple Therapy in Patients on Oral Anticoagulation After Drug Eluting Stent Implantation Unknown status NCT00776633 Phase 4
29 Potential Effect of Topical Imiquimod on Atrial Ectopy in Patients With Actinic Keratosis Unknown status NCT01413763 Phase 4
30 The Study of Warfarin Maintenance Dose in Chinese Patients Unknown status NCT01855737 Phase 4
31 RAAS Inhibitor Drugs in Dialysis Patients Unknown status NCT01635387 Phase 4
32 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
33 Right Ventricular Septal Pacing for the Prevention of Left Ventricular Dysfunction in Patients With Atrio-Ventricular Block Unknown status NCT00709774 Phase 4
34 Cerebral Artery Stenosis, Coronary Artery Disease and Arrhythmia Unknown status NCT00247533 Phase 4
35 Aliskiren or Amlodipine in Hypertensive Hemodialysed Patients Unknown status NCT01394770 Phase 4
36 Effects of Angiotensin II Receptor Blocker Compared With Diuretics in High-risk Hypertensive Patients Unknown status NCT01011660 Phase 4
37 Safety of Amiodarone and Ranolazine Together in Patients With Angina Unknown status NCT01558830 Phase 4
38 Evaluation of the Efficacy and Safety of Levothyroxine in Brain Death Organ Donors: a Randomized Controled Trial Unknown status NCT02211053 Phase 4
39 Steroids In caRdiac Surgery Trial (SIRS Trial) Unknown status NCT00427388 Phase 4
40 Study of Ablation Versus antiaRrhythmic Drugs in Persistent Atrial Fibrillation Completed NCT00863213 Phase 4
41 Nifedipine vs Telmisartan on Prevention of Atrial Fibrillation (AF) Recurrence in Hypertensive Patients With AF Completed NCT01435161 Phase 4
42 Withdrawal Versus Continuation of Amiodarone in Successfully Treated Patients With Persistent Atrial Fibrillation Completed NCT00845780 Phase 4
43 A New Approach to Target the Substrates of Persistent Atrial Fibrillation: The Sequential Substrate Ablation Approach Completed NCT02654353 Phase 4
44 Atrial Fibrillation Without Hemodynamic Instability in the Intensive Care Unit Completed NCT01461733 Phase 4
45 Atrial Fibrillation and Congestive Heart Failure Trial Completed NCT00597077 Phase 4
46 Prevention of Atrial Fibrillation Following Noncardiac Thoracic Surgery Completed NCT00127712 Phase 4
47 Vernakalant Versus Ibutilide In Recent-Onset Atrial Fibrillation Completed NCT01447862 Phase 4
48 Fish Oil for Reduction of Atrial Fibrillation After Cardiac Surgery Completed NCT00446966 Phase 4
49 Prevention of Atrial Fibrillation Following Esophagectomy Completed NCT00420017 Phase 4
50 Intravenous Metoprolol Versus Intravenous Amiodarone in the Prevention of Atrial Fibrillation After Cardiac Surgery Completed NCT00784316 Phase 4

Search NIH Clinical Center for Familial Atrial Fibrillation

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Familial Atrial Fibrillation

Genetic tests related to Familial Atrial Fibrillation:

id Genetic test Affiliating Genes
1 Familial Atrial Fibrillation 29 24

Anatomical Context for Familial Atrial Fibrillation

MalaCards organs/tissues related to Familial Atrial Fibrillation:

39
Heart

Publications for Familial Atrial Fibrillation

Articles related to Familial Atrial Fibrillation:

(show all 43)
id Title Authors Year
1
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation. ( 27742809 )
2017
2
Prognosis in Familial Atrial Fibrillation. ( 27866163 )
2016
3
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ( 27066836 )
2016
4
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. ( 24333117 )
2014
5
NKX2-6 mutation predisposes to familial atrial fibrillation. ( 25319568 )
2014
6
Whole-exome sequencing in familial atrial fibrillation. ( 24727801 )
2014
7
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
8
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. ( 23525379 )
2013
9
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. ( 23255276 )
2013
10
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. ( 23604097 )
2013
11
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. ( 23551519 )
2013
12
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. ( 24411289 )
2013
13
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. ( 23611745 )
2013
14
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. ( 22818067 )
2012
15
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. ( 22257684 )
2012
16
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. ( 22483626 )
2012
17
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. ( 22824924 )
2012
18
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. ( 23295592 )
2012
19
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. ( 22471742 )
2012
20
GATA4 loss-of-function mutations in familial atrial fibrillation. ( 21708142 )
2011
21
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. ( 20850564 )
2011
22
Laminopathy presenting as familial atrial fibrillation. ( 20472316 )
2010
23
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
24
Connexin40 nonsense mutation in familial atrial fibrillation. ( 20818502 )
2010
25
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. ( 21076174 )
2010
26
Novel connexin40 missense mutations in patients with familial atrial fibrillation. ( 20650941 )
2010
27
Genetics of familial atrial fibrillation. ( 19666641 )
2009
28
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. ( 18379660 )
2008
29
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. ( 18929331 )
2008
30
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. ( 18342226 )
2008
31
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. ( 18929244 )
2008
32
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. ( 18614783 )
2008
33
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. ( 17399636 )
2007
34
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. ( 15922306 )
2005
35
[KCNE3 R53H substitution in familial atrial fibrillation]. ( 16313760 )
2005
36
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. ( 15368194 )
2004
37
KCNQ1 gain-of-function mutation in familial atrial fibrillation. ( 12522251 )
2003
38
Familial atrial fibrillation is a genetically heterogeneous disorder. ( 12821245 )
2003
39
Familial atrial fibrillation with fetal onset. ( 9538316 )
1998
40
Familial atrial fibrillation. ( 9235505 )
1997
41
Identification of a genetic locus for familial atrial fibrillation. ( 9070470 )
1997
42
Clinical study of 9 familial atrial fibrillation cases. ( 6414778 )
1983
43
FAMILIAL ATRIAL FIBRILLATION. ( 14098892 )
1963

Variations for Familial Atrial Fibrillation

ClinVar genetic disease variations for Familial Atrial Fibrillation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh37 Chromosome 17, 45286819: 45286819

Expression for Familial Atrial Fibrillation

Search GEO for disease gene expression data for Familial Atrial Fibrillation.

Pathways for Familial Atrial Fibrillation

Pathways related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 GATA4 KCNE1 KCNJ2 KCNQ1 MYL4 SCN4B
2
Show member pathways
12.5 ABCC9 GATA4 KCNE1 KCNE2 KCNJ2 KCNQ1
3
Show member pathways
12.31 GATA4 GATA5 GATA6 NKX2-5
4 12.23 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1
5 12.04 KCNQ1 SCN3B SCN4B SCN5A
6
Show member pathways
11.98 ABCC9 KCNA5 KCNJ2 KCNQ1
7
Show member pathways
11.89 SCN2B SCN3B SCN4B SCN5A
8
Show member pathways
11.57 KCNE1 KCNE2 KCNQ1 SCN2B SCN3B SCN4B
9 11.44 GATA4 NKX2-5 SCN5A
10 11.33 GATA4 GATA6 NKX2-5 PITX2
11 11.11 ABCC9 GJA5 KCNA5 KCNE1 KCNE2 KCNJ2
12 11.03 SCN2B SCN3B SCN4B SCN5A
13 10.98 GATA4 NKX2-5 NPPA
14 10.89 KCNE1 KCNJ2 KCNQ1
15 10.28 GATA4 NKX2-5 NPPA

GO Terms for Familial Atrial Fibrillation

Cellular components related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.62 GATA5 GATA6 NKX2-5 PITX2
2 Z disc GO:0030018 9.56 KCNA5 KCNE1 SCN3B SCN5A
3 voltage-gated sodium channel complex GO:0001518 9.46 SCN2B SCN3B SCN4B SCN5A
4 intercalated disc GO:0014704 9.35 GJA5 KCNA5 KCNJ2 SCN4B SCN5A
5 voltage-gated potassium channel complex GO:0008076 9.1 ABCC9 KCNA5 KCNE1 KCNE2 KCNJ2 KCNQ1

Biological processes related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
id Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.99 SCN2B SCN3B SCN4B SCN5A
2 sodium ion transmembrane transport GO:0035725 9.97 SCN2B SCN3B SCN4B SCN5A
3 regulation of postsynaptic membrane potential GO:0060078 9.92 SCN2B SCN3B SCN4B SCN5A
4 cardiac conduction GO:0061337 9.91 GJA5 KCNE1 KCNE2 KCNJ2 KCNQ1 SCN3B
5 male gonad development GO:0008584 9.9 GATA4 GATA6 PITX2
6 regulation of cardiac conduction GO:1903779 9.88 ABCC9 NKX2-5 NPPA
7 cardiac muscle cell differentiation GO:0055007 9.88 GATA4 GATA6 NKX2-5 PITX2
8 cardiac muscle contraction GO:0060048 9.87 KCNQ1 MYL4 NKX2-5 SCN2B SCN3B SCN4B
9 ventricular septum morphogenesis GO:0060412 9.85 GJA5 NKX2-5 PITX2
10 potassium ion import GO:0010107 9.85 ABCC9 KCNE2 KCNJ2
11 cardiac muscle tissue development GO:0048738 9.85 GATA6 NKX2-5 PITX2
12 positive regulation of sodium ion transport GO:0010765 9.85 NKX2-5 SCN3B SCN4B SCN5A
13 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.85 KCNJ2 SCN2B SCN3B SCN4B SCN5A
14 regulation of sodium ion transmembrane transporter activity GO:2000649 9.84 SCN2B SCN3B SCN4B
15 positive regulation of heart rate GO:0010460 9.84 KCNQ1 NPPA SCN3B
16 potassium ion export GO:0071435 9.84 KCNA5 KCNE1 KCNE2 KCNQ1
17 embryonic heart tube development GO:0035050 9.83 GJA5 NKX2-5 NKX2-6
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.83 KCNE1 KCNJ2 KCNQ1
19 atrial septum morphogenesis GO:0060413 9.83 GATA4 GJA5 NKX2-5
20 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.83 GJA5 SCN2B SCN3B SCN5A
21 atrial cardiac muscle cell action potential GO:0086014 9.83 KCNA5 KCNQ1 NUP155 SCN3B SCN5A
22 regulation of cardiac muscle cell contraction GO:0086004 9.82 GATA4 KCNJ2 SCN5A
23 ventricular cardiac muscle cell development GO:0055015 9.82 NKX2-5 NKX2-6 PITX2
24 regulation of membrane repolarization GO:0060306 9.81 KCNE2 KCNJ2 KCNQ1
25 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.81 KCNA5 KCNQ1 NPPA SCN5A
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNJ2 KCNQ1
27 membrane repolarization GO:0086009 9.8 KCNE1 KCNE2 KCNQ1
28 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.78 KCNE1 KCNE2 KCNQ1
29 membrane repolarization during action potential GO:0086011 9.78 KCNE1 KCNE2 KCNJ2 KCNQ1
30 intestinal epithelial cell differentiation GO:0060575 9.77 GATA4 GATA5 GATA6
31 SA node cell action potential GO:0086015 9.77 GJA5 SCN3B SCN5A
32 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.76 GJA5 SCN3B SCN5A
33 regulation of cardiac muscle contraction GO:0055117 9.74 GJA5 NKX2-5
34 positive regulation of cardioblast differentiation GO:0051891 9.74 GATA4 GATA6 NKX2-5
35 response to vitamin A GO:0033189 9.73 GATA4 PITX2
36 pharyngeal system development GO:0060037 9.73 NKX2-5 NKX2-6
37 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.73 GJA5 KCNE1 KCNE2 KCNQ1 SCN4B SCN5A
38 regulation of potassium ion transmembrane transport GO:1901379 9.72 KCNE1 KCNE2
39 cardiac muscle hypertrophy in response to stress GO:0014898 9.72 GATA6 NPPA
40 cardiovascular system development GO:0072358 9.72 KCNQ1 NKX2-5
41 tongue development GO:0043586 9.72 KCNE2 NKX2-6
42 cardiac ventricle morphogenesis GO:0003208 9.71 GATA4 NKX2-5
43 positive regulation of cardiac muscle contraction GO:0060452 9.71 KCNQ1 NPPA
44 cell growth involved in cardiac muscle cell development GO:0061049 9.71 GATA4 NPPA
45 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.71 KCNE1 KCNE2
46 regulation of delayed rectifier potassium channel activity GO:1902259 9.71 KCNE1 KCNE2
47 positive regulation of myoblast proliferation GO:2000288 9.7 KCNA5 PITX2
48 cardiac conduction system development GO:0003161 9.7 GJA5 NKX2-5
49 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.7 KCNA5 KCNQ1
50 AV node cell action potential GO:0086016 9.69 SCN4B SCN5A

Molecular functions related to Familial Atrial Fibrillation according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.97 GATA4 GATA5 GATA6 NKX2-5 PITX2
2 transcription factor binding GO:0008134 9.91 GATA4 GATA6 NKX2-5 PITX2
3 transcription regulatory region DNA binding GO:0044212 9.9 GATA4 GATA5 GATA6 NKX2-5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.81 GATA4 GATA5 GATA6 NKX2-5
5 voltage-gated potassium channel activity GO:0005249 9.8 KCNA5 KCNE1 KCNE2 KCNQ1
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.77 GATA5 GATA6 NKX2-5
7 potassium channel activity GO:0005267 9.77 ABCC9 KCNA5 KCNE1 KCNE2 KCNQ1
8 RNA polymerase II transcription factor binding GO:0001085 9.74 GATA4 GATA5 GATA6
9 scaffold protein binding GO:0097110 9.73 KCNA5 KCNQ1 SCN5A
10 sodium channel regulator activity GO:0017080 9.73 SCN2B SCN3B SCN4B SCN5A
11 sodium channel activity GO:0005272 9.71 SCN2B SCN3B SCN4B SCN5A
12 potassium channel regulator activity GO:0015459 9.7 ABCC9 KCNE1 KCNE2
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.65 KCNE1 KCNE2 KCNQ1
14 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.63 KCNE1 KCNJ2 KCNQ1