MCID: FML001
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Familial Atrial Fibrillation malady

Genetic diseases category

Summaries for Familial Atrial Fibrillation

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Familial Atrial Fibrillation, also known as atrial fibrillation familial, is related to long qt syndrome and kcne2-related familial atrial fibrillation. An important gene associated with Familial Atrial Fibrillation is KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1), and among its related pathways are Gastric acid secretion and Potassium transporters: inward current. The drugs atenolol and deslanoside and the compounds chromanol and indapamide have been mentioned in the context of this disorder. Affiliated tissues include heart and brain, and related mouse phenotypes are digestive/alimentary and mortality/aging.

Disease Ontology:8 A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has material basis in autosomal dominant inheritance of the familial atrial fibrillation (atfb) genes.

Wikipedia:63 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Description from OMIM:46 607554,612240,612201,611493

Aliases & Classifications for Familial Atrial Fibrillation

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

familial atrial fibrillation 8 42 21 10
atrial fibrillation familial 42 20 22
autosomal dominant atrial fibrillation 42
atrial fibrillation autosomal dominant 42
atrial fibrillation, familial 44
auricular fibrillation 21


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Disease Ontology8 DOID:0050650

Related Diseases for Familial Atrial Fibrillation

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17GeneCards, 18GeneDecks
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Diseases in the Familial Atrial Fibrillation family:

Kcne2-Related Familial Atrial Fibrillation Kcnq1-Related Familial Atrial Fibrillation
Kcna5-Related Familial Atrial Fibrillation Kcnj2-Related Familial Atrial Fibrillation
Abcc9-Related Familial Atrial Fibrillation Gja5-Related Familial Atrial Fibrillation
Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 11
Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 5
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

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1long qt syndrome30.4KCNE1L, KCNE2, KCNE3, KCNE1, KCNA5, KCNE4
2kcne2-related familial atrial fibrillation10.3
3kcnq1-related familial atrial fibrillation10.3
4kcna5-related familial atrial fibrillation10.3
5kcnj2-related familial atrial fibrillation10.3
6abcc9-related familial atrial fibrillation10.3
7gja5-related familial atrial fibrillation10.3
8atrial fibrillation, familial, 610.3
9atrial fibrillation, familial, 1110.3
10atrial fibrillation, familial, 1010.3
11atrial fibrillation, familial, 510.3
12atrial fibrillation, familial, 210.3
13atrial fibrillation, familial, 110.3
14atrial fibrillation, familial, 310.3
15atrial fibrillation, familial, 1410.3
16atrial fibrillation, familial, 710.3
17atrial fibrillation, familial, 1210.3
18atrial fibrillation, familial, 810.3
19atrial fibrillation, familial, 1310.3
20atrial fibrillation, familial, 410.3
21right bundle branch block10.1
22wolff-parkinson-white syndrome10.1
23atrial fibrillation, familial, 910.1
24dextrocardia10.1
25endocardial fibroelastosis10.1
26mesenteric vascular occlusion10.1
27aortic disease10.1
28mediastinal malignant lymphoma10.1
29mediastinitis10.1
30myocardial infarction10.0NPPA
31jervell-lange nielsen syndrome10.0KCNE1, KCNQ1
32timothy syndrome10.0KCNE1
33hypertension10.0KCNA5, NPPA
34hyperkalemic periodic paralysis10.0KCNE3, KCNJ2
35sudden infant death syndrome10.0KCNQ1, KCNH2, SCN5A
36sick sinus syndrome10.0NPPA, SCN5A
37congenital heart block10.0SCN5A, KCNE2, KCNQ1, LMNA
38congenital heart defect10.0NPPA, KCNQ1, GJA5
39diabetes mellitus10.0HK2, LMNA, NPPA
40hypokalemic periodic paralysis10.0KCNJ2, KCNE3
41atrioventricular block10.0LMNA, KCNH2, SCN5A
42dilated cardiomyopathy10.0ABCC9, SCN5A, NPPA, LMNA
43long qt syndrome 110.0KCNH2, KCNE1, KCNE2, SCN5A, KCNQ1
44noonan syndrome10.0SCN5A, LMNA, NPPA, KCNH2
45brugada syndrome10.0KCNE1, KCNH2, KCNE3, KCNE2, KCNE1L, SCN5A
46sudden cardiac death multi-gene panels10.0LMNA, KCNQ1, KCNE1, KCNH2, SCN5A, KCNJ2

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



Diseases related to familial atrial fibrillation

Clinical Features for Familial Atrial Fibrillation

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46OMIM
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Clinical features from OMIM:

607554,612240,612201,611493

Drugs & Therapeutics for Familial Atrial Fibrillation

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Familial Atrial Fibrillation

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20GeneTests, 22GTR
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Genetic tests related to Familial Atrial Fibrillation:

id Genetic test Affiliating Genes
1 Familial Atrial Fibrillation20 KCNQ1
2 Atrial Fibrillation Familial22

Anatomical Context for Familial Atrial Fibrillation

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32MalaCards
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MalaCards organs/tissues related to Familial Atrial Fibrillation:

32
Heart, Brain

Animal Models for Familial Atrial Fibrillation or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Atrial Fibrillation:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3GATA5, KCNE2, KCNE3, KCNE1, KCNQ1, KCNJ2
2MP:00107687.7GJA5, ABCC9, KCNH2, KCNJ2, SCN5A, GATA6
3MP:00053857.5KCNJ2, KCNA5, KCNQ1, KCNE1, KCNH2, NPPA
4MP:00053697.4KCNA5, KCNQ1, LMNA, ABCC9, GJA5, GATA6
5MP:00053766.6GATA6, KCNJ2, KCNC1, KCNE2, KCNH2, KCNA5

Publications for Familial Atrial Fibrillation

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50PubMed
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Articles related to Familial Atrial Fibrillation:

(show all 43)
idTitleAuthorsYear
1
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. (24333117)
2014
2
Atrial fibrillation subtypes classification using the General Fourier-family Transform. (24378383)
2013
3
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. (23611745)
2013
4
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. (23604097)
2013
5
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. (23255276)
2013
6
Interrelationship between polymorphic markers of methylenetetrahydrofolate reductase gene and development of acute disturbance of brain circulation in families of patients with atrial fibrillation]. (23548428)
2013
7
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. (23525379)
2013
8
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. (23551519)
2013
9
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. (24411289)
2013
10
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. (23350853)
2013
11
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. (22818067)
2012
12
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. (23295592)
2012
13
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. (22257684)
2012
14
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. (22471742)
2012
15
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. (22483626)
2012
16
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. (22824924)
2012
17
GATA4 loss-of-function mutations in familial atrial fibrillation. (21708142)
2011
18
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. (20850564)
2011
19
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. (21076174)
2010
20
Connexin40 nonsense mutation in familial atrial fibrillation. (20818502)
2010
21
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (19646991)
2010
22
Novel connexin40 missense mutations in patients with familial atrial fibrillation. (20650941)
2010
23
Laminopathy presenting as familial atrial fibrillation. (20472316)
2010
24
Genetics of familial atrial fibrillation. (19666641)
2009
25
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. (19632626)
2009
26
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. (18929331)
2008
27
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. (18379660)
2008
28
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (18614783)
2008
29
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. (18929244)
2008
30
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. (18342226)
2008
31
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. (17399636)
2007
32
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. (15922306)
2005
33
KCNE3 R53H substitution in familial atrial fibrillation]. (16313760)
2005
34
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (15368194)
2004
35
Familial atrial fibrillation is a genetically heterogeneous disorder. (12821245)
2003
36
KCNQ1 gain-of-function mutation in familial atrial fibrillation. (12522251)
2003
37
Molecular analysis of connexin 40 in the familial form of atrial fibrillation. (11482925)
2001
38
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. (10750581)
1999
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

Genetic Variations for Familial Atrial Fibrillation

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Expression for genes affiliated with Familial Atrial Fibrillation

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Atrial Fibrillation

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

Pathways for genes affiliated with Familial Atrial Fibrillation

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29KEGG, 12EMD Millipore, 53Reactome, 51QIAGEN, 49PharmGKB
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Compounds for genes affiliated with Familial Atrial Fibrillation

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1chromanol4410.4KCNE1, KCNQ1
2indapamide44 1111.3KCNE1, KCNQ1
3cromakalim44 2811.3ABCC9, KCNQ1
4chromanol 293b44 59 2812.3KCNE1, KCNQ1
5nicorandil44 2811.2ABCC9, NPPA
6glibenclamide44 28 49 5913.2KCNQ1, KCNJ2, ABCC9
7clofilium44 2811.1KCNQ1, KCNA5, KCNH2
8mexiletine44 1111.1KCNH2, SCN5A
9bupivacaine44 28 1112.1KCNA5, KCNH2
10bepridil44 28 1112.1KCNH2, KCNQ1
11flecainide44 49 28 1113.1SCN5A, KCNH2, KCNA5
12propafenone44 49 28 1113.1KCNA5, KCNH2, SCN5A
13katp4410.1KCNQ1, KCNH2, ABCC9
14quinidine44 28 49 1113.0SCN5A, KCNH2, KCNA5
15isoleucine4410.0KCNQ1, KCNH2, SCN5A
16terfenadine44 28 1111.9KCNH2, KCNA5
17metoprolol44 28 49 11 2413.9NPPA, KCNH2
18cisapride44 28 1111.8KCNH2, SCN5A
19nitrendipine44 49 28 1112.8NPPA, KCNH2
20isoproterenol44 1110.7KCNQ1, KCNH2, KCNJ2, NPPA
21tetraethylammonium44 28 1111.6KCNJ2, KCNC1, KCNH2, KCNQ1
224-aminopyridine44 2810.5KCNC1, KCNA5
23sodium44 2410.1KCNQ1, KCNE1, KCNH2, KCNE2, NPPA, SCN5A
24arginine448.9KCNQ1, KCNE1, KCNH2, KCNJ2, NPPA, SCN5A
25jnj 303598.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
26e-4031 dihydrochloride598.6KCNE1, KCNH2, KCNE3, KCNE2, KCNC1, KCNA5
27xe 991 dihydrochloride598.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
28shk-dap22598.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
29ica 110381598.6KCNC1, KCNE2, KCNE3, KCNQ1, KCNE4, KCNA5
30calcium44 49 11 2411.6KCNQ1, KCNA5, KCNH2, KCNJ2, NPPA, SCN5A
31potassium44 11 249.9KCNQ1, KCNA5, KCNE1, KCNH2, KCNE3, KCNE2

GO Terms for genes affiliated with Familial Atrial Fibrillation

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16Gene Ontology
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Cellular components related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:0147049.8KCNA5, SCN5A, GJA5
2sarcolemmaGO:0423839.6ABCC9, SCN5A, KCNQ1
3cell surfaceGO:0099869.4SCN5A, KCNE2, KCNH2, KCNE1
4voltage-gated potassium channel complexGO:0080768.2ABCC9, KCNQ1, KCNA5, KCNE1, KCNH2, KCNE2

Biological processes related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1regulation of delayed rectifier potassium channel activityGO:190225910.3KCNE1, KCNE2
2membrane depolarization involved in regulation of cardiac muscle cell action potentialGO:08601210.3KCNJ2, SCN5A
3membrane repolarizationGO:08600910.2KCNE1, KCNE2
4potassium ion importGO:01010710.2ABCC9, KCNJ2, KCNE2
5intestinal epithelial cell differentiationGO:06057510.2GATA5, GATA6
6regulation of potassium ion transportGO:04326610.2KCNA5, KCNE3
7membrane depolarization involved in regulation of action potentialGO:08601010.1KCNH2, SCN5A
8regulation of ventricular cardiac muscle cell membrane depolarizationGO:06037310.1GJA5, SCN5A
9negative regulation of potassium ion transmembrane transportGO:190138010.1KCNH2, KCNE1L
10bundle of His cell to Purkinje myocyte communicationGO:08606910.1SCN5A, GJA5
11regulation of atrial cardiac muscle cell membrane repolarizationGO:06037210.1KCNQ1, KCNA5, KCNE1L, SCN5A
12potassium ion homeostasisGO:05507510.0KCNH2, KCNA5
13regulation of atrial cardiac muscle cell action potentialGO:08601410.0KCNQ1, KCNA5, KCNE1L, GJA5
14cellular response to drugGO:03569010.0KCNE2, KCNH2, KCNQ1
15cellular response to BMP stimulusGO:07177310.0GATA5, GATA6
16regulation of atrial cardiac muscle cell membrane depolarizationGO:06037110.0SCN5A, GJA5
17regulation of cardiac muscle cell action potential involved in contractionGO:0860029.9SCN5A, KCNJ2, KCNE2, KCNE1
18membrane repolarization involved in regulation of cardiac muscle cell action potentialGO:0860139.8KCNQ1, KCNE1, KCNH2, KCNJ2
19cardiac muscle contractionGO:0600489.8KCNQ1, KCNH2, KCNE1L, SCN5A
20positive regulation of potassium ion transmembrane transportGO:19013819.8KCNQ1, KCNE1, KCNH2, KCNE1L
21regulation of potassium ion transmembrane transportGO:19013799.8KCNE1, KCNH2, KCNE2, KCNE1L
22regulation of membrane repolarizationGO:0603069.7KCNQ1, KCNH2, KCNE2, KCNE1L, KCNJ2
23potassium ion transportGO:0068139.7ABCC9, KCNJ2, KCNC1, KCNA5
24membrane repolarization involved in regulation of action potentialGO:0860119.7KCNQ1, KCNE1, KCNH2, KCNE2, KCNJ2
25cardiac muscle hypertrophy in response to stressGO:0148989.6GATA6, NPPA
26potassium ion exportGO:0714359.5KCNQ1, KCNE1L, KCNE2, KCNH2, KCNE1, KCNA5
27potassium ion transmembrane transportGO:0718059.4KCNQ1, KCNE1, KCNH2, KCNE2, KCNE1L, KCNJ2
28regulation of ventricular cardiac muscle cell action potentialGO:0860059.2GJA5, SCN5A, KCNE1L, KCNE2, KCNH2, KCNE1
29regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.2KCNQ1, KCNE1, KCNH2, GJA5, SCN5A, KCNE1L
30synaptic transmissionGO:0072689.2KCNQ1, KCNA5, KCNH2, KCNC1, KCNJ2, ABCC9
31regulation of heart rate by cardiac conductionGO:0860918.9GJA5, SCN5A, KCNJ2, KCNE1L, KCNE2, KCNH2

Molecular functions related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1outward rectifier potassium channel activityGO:01527110.1KCNA5, KCNQ1
2voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarizationGO:0860899.8KCNA5, KCNQ1
3scaffold protein bindingGO:0971109.8KCNQ1, KCNA5, SCN5A
4voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:0860089.8KCNQ1, KCNE1, KCNE1L, KCNJ2
5inward rectifier potassium channel activityGO:0052429.7KCNJ2, KCNE2, KCNH2
6voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:19022829.7KCNQ1, KCNE1, KCNH2, KCNE2
7ion channel bindingGO:0443259.6KCNQ1, KCNE2, KCNE1L, SCN5A, ABCC9
8potassium channel regulator activityGO:0154599.4KCNE1, KCNE3, KCNE2, KCNE1L, ABCC9
9delayed rectifier potassium channel activityGO:0052519.0KCNQ1, KCNA5, KCNE1, KCNH2, KCNE2, KCNC1
10voltage-gated potassium channel activityGO:0052498.6KCNC1, KCNQ1, KCNE4, KCNE1, KCNH2, KCNE3

Products for genes affiliated with Familial Atrial Fibrillation

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Sources for Familial Atrial Fibrillation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet