MCID: FML001
MIFTS: 54

Familial Atrial Fibrillation malady

Genetic category

Summaries for Familial Atrial Fibrillation

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 kcne2-related familial atrial fibrillation and kcnq1-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 diltiazem and verapamil and the compounds chromanol and indapamide have been mentioned in the context of this disorder. Affiliated tissues include heart, 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:64 Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the... more...

Description from OMIM:47 607554,612240,612201,611493

Aliases & Classifications for Familial Atrial Fibrillation

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

familial atrial fibrillation 8 43 21 10
atrial fibrillation familial 43 20 22
autosomal dominant atrial fibrillation 43
atrial fibrillation autosomal dominant 43
atrial fibrillation, familial 45
auricular fibrillation 21


External Ids:

Disease Ontology8 DOID:0050650

Related Diseases for Familial Atrial Fibrillation

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Atrial Fibrillation family:

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1kcne2-related familial atrial fibrillation10.3
2kcnq1-related familial atrial fibrillation10.3
3kcna5-related familial atrial fibrillation10.3
4kcnj2-related familial atrial fibrillation10.3
5abcc9-related familial atrial fibrillation10.3
6gja5-related familial atrial fibrillation10.3
7atrial fibrillation, familial, 610.3
8atrial fibrillation, familial, 1110.3
9atrial fibrillation, familial, 510.3
10atrial fibrillation, familial, 310.3
11atrial fibrillation, familial, 1410.3
12atrial fibrillation, familial, 710.3
13atrial fibrillation, familial, 1210.3
14atrial fibrillation, familial, 810.3
15atrial fibrillation, familial, 1310.3
16wolff-parkinson-white syndrome10.1
17atrial fibrillation, familial, 1010.1
18atrial fibrillation, familial, 210.1
19atrial fibrillation, familial, 110.1
20atrial fibrillation, familial, 910.1
21atrial fibrillation, familial, 410.1
22dextrocardia10.1
23endocardial fibroelastosis10.1
24mesenteric vascular occlusion10.1
25aortic disease10.1
26myocardial infarction10.0NPPA
27jervell-lange nielsen syndrome10.0KCNE1, KCNQ1
28timothy syndrome10.0KCNE1
29hypertension10.0KCNA5, NPPA
30hyperkalemic periodic paralysis10.0KCNE3, KCNJ2
31sudden infant death syndrome10.0KCNQ1, KCNH2, SCN5A
32sick sinus syndrome10.0NPPA, SCN5A
33congenital heart block10.0SCN5A, KCNE2, KCNQ1, LMNA
34congenital heart defect10.0NPPA, KCNQ1, GJA5
35diabetes mellitus10.0HK2, LMNA, NPPA
36hypokalemic periodic paralysis10.0KCNJ2, KCNE3
37atrioventricular block10.0LMNA, KCNH2, SCN5A
38dilated cardiomyopathy10.0ABCC9, SCN5A, NPPA, LMNA
39long qt syndrome 110.0KCNH2, KCNE1, KCNE2, SCN5A, KCNQ1
40noonan syndrome10.0SCN5A, LMNA, NPPA, KCNH2
41brugada syndrome10.0KCNE1, KCNH2, KCNE3, KCNE2, KCNE1L, SCN5A
42sudden cardiac death multi-gene panels10.0LMNA, KCNQ1, KCNE1, KCNH2, SCN5A, KCNJ2
43long qt syndrome10.0KCNE1L, KCNE2, KCNE3, KCNE1, KCNA5, KCNE4

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



Diseases related to familial atrial fibrillation

Clinical Features for Familial Atrial Fibrillation

Sources:
47OMIM
See all sources

Clinical features from OMIM:

607554,612240,612201,611493

Drugs & Therapeutics for Familial Atrial Fibrillation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Familial Atrial Fibrillation

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Atrial Fibrillation:

33
Heart

Animal Models for Familial Atrial Fibrillation or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Familial Atrial Fibrillation

Sources:
51PubMed
See all sources

Articles related to Familial Atrial Fibrillation:

(show all 41)
idTitleAuthorsYear
1
A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. (24333117)
2014
2
Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. (23611745)
2013
3
Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. (23604097)
2013
4
Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins. (23255276)
2013
5
A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. (23525379)
2013
6
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation. (23551519)
2013
7
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation. (24411289)
2013
8
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. (23350853)
2013
9
Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. (22818067)
2012
10
Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. (23295592)
2012
11
Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. (22257684)
2012
12
Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. (22471742)
2012
13
Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. of Shanghai Jiaotong University, Shanghai 200030, China. (22483626)
2012
14
Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. (22824924)
2012
15
GATA4 loss-of-function mutations in familial atrial fibrillation. (21708142)
2011
16
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. (20850564)
2011
17
Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. (21076174)
2010
18
Connexin40 nonsense mutation in familial atrial fibrillation. (20818502)
2010
19
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. (19646991)
2010
20
Novel connexin40 missense mutations in patients with familial atrial fibrillation. (20650941)
2010
21
Laminopathy presenting as familial atrial fibrillation. (20472316)
2010
22
Genetics of familial atrial fibrillation. (19666641)
2009
23
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. (19632626)
2009
24
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. (18929331)
2008
25
Percutenous catheter ablation of the accessory pathway in a patient with wolff-Parkinson-white syndrome associated with familial atrial fibrillation. (18379660)
2008
26
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. (18614783)
2008
27
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. (18929244)
2008
28
Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. (18342226)
2008
29
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. (17399636)
2007
30
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. (15922306)
2005
31
KCNE3 R53H substitution in familial atrial fibrillation]. (16313760)
2005
32
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (15368194)
2004
33
Familial atrial fibrillation is a genetically heterogeneous disorder. (12821245)
2003
34
KCNQ1 gain-of-function mutation in familial atrial fibrillation. (12522251)
2003
35
Molecular analysis of connexin 40 in the familial form of atrial fibrillation. (11482925)
2001
36
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. (10750581)
1999
37
Familial atrial fibrillation with fetal onset. (9538316)
1998
38
Familial atrial fibrillation. (9235505)
1997
39
Identification of a genetic locus for familial atrial fibrillation. (9070470)
1997
40
Clinical study of 9 familial atrial fibrillation cases. (6414778)
1983
41
FAMILIAL ATRIAL FIBRILLATION. (14098892)
1963

Genetic Variations for Familial Atrial Fibrillation

Expression for genes affiliated with Familial Atrial Fibrillation

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 52QIAGEN, 50PharmGKB
See all sources

Compounds for genes affiliated with Familial Atrial Fibrillation

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Familial Atrial Fibrillation according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1chromanol4510.4KCNE1, KCNQ1
2indapamide45 1111.3KCNE1, KCNQ1
3cromakalim45 2911.3ABCC9, KCNQ1
4chromanol 293b45 60 2912.3KCNE1, KCNQ1
5nicorandil45 2911.2ABCC9, NPPA
6glibenclamide45 29 50 6013.2KCNQ1, KCNJ2, ABCC9
7clofilium45 2911.1KCNQ1, KCNA5, KCNH2
8mexiletine45 1111.1KCNH2, SCN5A
9bupivacaine45 29 1112.1KCNA5, KCNH2
10bepridil45 29 1112.1KCNH2, KCNQ1
11flecainide45 50 29 1113.1SCN5A, KCNH2, KCNA5
12propafenone45 50 29 1113.1KCNA5, KCNH2, SCN5A
13katp4510.1KCNQ1, KCNH2, ABCC9
14quinidine45 29 50 1113.0SCN5A, KCNH2, KCNA5
15isoleucine4510.0KCNQ1, KCNH2, SCN5A
16terfenadine45 29 1111.9KCNH2, KCNA5
17metoprolol45 29 50 11 2413.9NPPA, KCNH2
18cisapride45 29 1111.8KCNH2, SCN5A
19nitrendipine45 50 29 1112.8NPPA, KCNH2
20isoproterenol45 1110.7KCNQ1, KCNH2, KCNJ2, NPPA
21tetraethylammonium45 29 1111.6KCNJ2, KCNC1, KCNH2, KCNQ1
224-aminopyridine45 2910.5KCNC1, KCNA5
23sodium45 2410.1KCNQ1, KCNE1, KCNH2, KCNE2, NPPA, SCN5A
24arginine458.9KCNQ1, KCNE1, KCNH2, KCNJ2, NPPA, SCN5A
25jnj 303608.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
26e-4031 dihydrochloride608.6KCNE1, KCNH2, KCNE3, KCNE2, KCNC1, KCNA5
27xe 991 dihydrochloride608.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
28shk-dap22608.6KCNQ1, KCNE4, KCNA5, KCNE1, KCNH2, KCNE3
29ica 110381608.6KCNC1, KCNE2, KCNE3, KCNQ1, KCNE4, KCNA5
30calcium45 50 11 2411.6KCNQ1, KCNA5, KCNH2, KCNJ2, NPPA, SCN5A
31potassium45 11 249.9KCNQ1, KCNA5, KCNE1, KCNH2, KCNE3, KCNE2

GO Terms for genes affiliated with Familial Atrial Fibrillation

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet