Details of Disease

General Information of Disease (ID: DISL4AGF)

Disease Name Familial atrial fibrillation
Synonyms autosomal dominant atrial fibrillation; atrial fibrillation, familial; atrial fibrillation autosomal dominant; hereditary atrial fibrillation (disease); ATFB
Definition
An autosomal dominant heart condition that causes disruptions in 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.|Editor note: DO def states this as being in ATFB but this is not correct
Disease Hierarchy
DISMT2VZ: Cardiogenetic disease
DIS15W6U: Atrial fibrillation
DISL4AGF: Familial atrial fibrillation
Disease Identifiers
MONDO ID
MONDO_0018054
UMLS CUI
C3468561
MedGen ID
894635
Orphanet ID
334
SNOMED CT ID
715395008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 46 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IGF1R TTQFBMY Limited Biomarker [1]
KCND3 TTPLQO0 Limited Biomarker [1]
KCNH2 TTQ6VDM Limited Biomarker [1]
KCNJ5 TTEO25X Limited Biomarker [1]
KCNN2 TT2T5M0 Limited Biomarker [1]
MAPT TTS87KH Limited Biomarker [1]
MYH7 TTNIMDP Limited Biomarker [1]
NOS3 TTCM4B3 Limited Therapeutic [2]
PAK2 TT279WO Limited Biomarker [1]
SMAD7 TT0J32Z Limited Biomarker [1]
GATA4 TT1VDN2 Supportive Autosomal dominant [3]
GJA5 TTFQKZ7 Supportive Autosomal dominant [4]
KCNJ2 TTH7UO3 Supportive Autosomal dominant [5]
SCN5A TTZOVE0 Supportive Autosomal dominant [6]
CAV1 TTXUBN2 moderate Biomarker [1]
CDK6 TTO0FDJ moderate Biomarker [1]
CDKN1A TT9GUW0 moderate Biomarker [1]
CGA TTFC29G moderate Biomarker [7]
CYP2C19 TTZ58XG moderate Biomarker [8]
EDN1 TTJR60Z moderate Biomarker [9]
EPHA3 TTHS2LR moderate Biomarker [1]
ERBB4 TTWALCO moderate Biomarker [1]
ESR2 TTOM3J0 moderate Biomarker [7]
GATA4 TT1VDN2 moderate Biomarker [7]
GJA5 TTFQKZ7 moderate Biomarker [1]
HCN4 TTQP04A moderate Biomarker [7]
HSPG2 TT5UM29 moderate Biomarker [7]
HTR4 TT07C3Y moderate Therapeutic [10]
KCNA5 TTW0CMT moderate Biomarker [11]
KCNN3 TT9JH25 moderate Biomarker [7]
KDM1B TT8VP2T moderate Biomarker [1]
NPPB TTY63XT moderate Biomarker [12]
NR3C1 TTOZRK6 moderate Biomarker [7]
PLN TTMCVJF moderate Biomarker [7]
PSMB7 TT49BVC moderate Biomarker [1]
PTK2 TTON5IT moderate Biomarker [1]
SCN10A TT90XZ8 moderate Biomarker [1]
SCN5A TTZOVE0 moderate Biomarker [7]
SELE TT1PL7M moderate Biomarker [13]
SGCA TTS9Q5V moderate Biomarker [7]
SIRT1 TTUF2HO moderate Biomarker [1]
SOX5 TTXHSZK moderate Biomarker [14]
THRB TTGER3L moderate Biomarker [1]
TNFSF12 TTBTDM1 moderate Biomarker [7]
VWF TT3SZBT moderate Biomarker [13]
XPO1 TTCJUR4 moderate Biomarker [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 46 DTT(s)
This Disease Is Related to 4 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
KCNA5 DTGDWVS Supportive Autosomal dominant [15]
KCNQ1 DTYE3RN Supportive Autosomal dominant [16]
SLC27A6 DTG4CWJ moderate Biomarker [7]
SLC9B1 DTR462N moderate Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 102 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASAH1 OT1DNGXL Limited Biomarker [1]
C1orf185 OT32C5NW Limited Biomarker [1]
GTF2I OTUYL1TQ Limited Biomarker [1]
GYPC OTOEDR7O Limited Biomarker [1]
KIF3C OTTXKIWA Limited Biomarker [1]
NACA OTLP1KR3 Limited Biomarker [1]
PKP2 OTJOVF68 Limited Biomarker [1]
RBM20 OTOQZNKS Limited Biomarker [1]
GATA4 OTQHWAZG Supportive Autosomal dominant [3]
GATA5 OTO81B63 Supportive Autosomal dominant [17]
GATA6 OTO2BC0F Supportive Autosomal dominant [18]
GJA5 OTRMZVO6 Supportive Autosomal dominant [4]
KCNA5 OTHI2N71 Supportive Autosomal dominant [15]
KCNE2 OTUO214Y Supportive Autosomal dominant [19]
KCNJ2 OT2OQEZS Supportive Autosomal dominant [5]
KCNQ1 OT8SPJNX Supportive Autosomal dominant [16]
MYL4 OTURFCSE Supportive Autosomal dominant [20]
NKX2-5 OTS1SAWM Supportive Autosomal dominant [21]
NPPA OTMQNTNX Supportive Autosomal dominant [22]
NUP155 OTIIAH4E Supportive Autosomal dominant [23]
PITX2 OTWMXAOY Supportive Autosomal dominant [24]
SCN2B OTFAHJ38 Supportive Autosomal dominant [25]
SCN3B OTNTQT9O Supportive Autosomal dominant [26]
SCN4B OT3JSUWO Supportive Autosomal dominant [27]
SCN5A OTGYZWR6 Supportive Autosomal dominant [6]
ACE OTDF1964 moderate Biomarker [28]
AGBL4 OTOX2H61 moderate Biomarker [1]
AKAP6 OTN59BZS moderate Biomarker [1]
AOPEP OT0MMANL moderate Biomarker [1]
ARHGAP10 OT84ATF5 moderate Biomarker [1]
ARMH3 OT51CU4J moderate Biomarker [1]
ARNT2 OTAQD3YV moderate Biomarker [7]
ATXN1 OTQF0HNR moderate Biomarker [1]
BEST3 OTMY8G20 moderate Biomarker [1]
CALU OTSYQN71 moderate Biomarker [7]
CAMK2D OTJ5XLVU moderate Biomarker [1]
CAND2 OTOMOG3R moderate Biomarker [1]
CASQ2 OT09MNQ8 moderate Biomarker [1]
CASZ1 OTWJ2OR8 moderate Biomarker [1]
CAV2 OT1FGRQX moderate Biomarker [14]
CEP68 OTZDM4J1 moderate Biomarker [1]
CFL2 OTE2W0DH moderate Biomarker [7]
COG5 OTZEG7K0 moderate Biomarker [1]
CREB5 OTJDUJPI moderate Biomarker [1]
CUL4A OTTBV70J moderate Biomarker [1]
CYTH1 OTYH9NRJ moderate Biomarker [1]
DES OTI09KBW moderate Biomarker [29]
DGKB OTTT9SZJ moderate Biomarker [1]
DNAH10 OTABM2D1 moderate Biomarker [1]
DPF3 OTEWLMNB moderate Biomarker [1]
FBRSL1 OT4BPXGG moderate Biomarker [1]
FBXO32 OTUE978R moderate Biomarker [1]
FGF5 OTQXGHBY moderate Biomarker [7]
FRMD4B OTVI6YFP moderate Biomarker [1]
GNB4 OTC1GPHA moderate Biomarker [1]
GOPC OTRBGH71 moderate Biomarker [1]
GOSR2 OTYHIYN2 moderate Biomarker [1]
HAND2 OTCXYW4Y moderate Biomarker [1]
HERC1 OT73FVYZ moderate Biomarker [7]
HIP1R OTIPKEJC moderate Biomarker [1]
HSF2 OTXNJIJ9 moderate Biomarker [7]
IRF2BPL OTV8MNT1 moderate Biomarker [7]
LHX3 OTQ5BAJ9 moderate Biomarker [1]
LRIG1 OTY5HZN5 moderate Biomarker [1]
LRMDA OTIPNKTU moderate Biomarker [1]
LRRC10 OT9V0ZBY moderate Biomarker [7]
MBD5 OTFHT4MO moderate Biomarker [1]
MEX3C OT8AJG1I moderate Biomarker [1]
MYH6 OT3YNCH1 moderate Biomarker [7]
MYO18B OTGYY4NK moderate Biomarker [1]
MYO1C OT69L39Y moderate Biomarker [7]
MYOCD OTSJNHTH moderate Biomarker [1]
MYOT OTCEW5XW moderate Biomarker [7]
MYOZ1 OT2XU9EU moderate Biomarker [7]
MYPN OTHTOFDU moderate Biomarker [7]
NAV2 OTGAOL01 moderate Biomarker [1]
NEBL OT2WH1NC moderate Biomarker [30]
NEURL1 OT2C4P70 moderate Biomarker [1]
NUCKS1 OTL4VJC5 moderate Biomarker [1]
PHLDA1 OTFTWMIQ moderate Biomarker [7]
PHLDB2 OTDKMB2G moderate Biomarker [1]
PPFIA4 OTWXG0DO moderate Biomarker [1]
PPP2R3A OTSK5GFC moderate Biomarker [1]
PRRX1 OTTZK5G8 moderate Biomarker [31]
REEP1 OTEMVFX7 moderate Biomarker [7]
REEP3 OTM7YVIE moderate Biomarker [1]
RPL3L OTTNH7PK moderate Biomarker [7]
RPS2 OTSMTZVB moderate Biomarker [1]
SCMH1 OTPMWOM9 moderate Biomarker [1]
SH3PXD2A OTYRQJIH moderate Biomarker [30]
SLC35F1 OTRXHR2P moderate Biomarker [1]
SLIT3 OTU8MKEU moderate Biomarker [1]
SNRNP27 OTNWI55E moderate Biomarker [1]
SORL1 OTQ8FFNS moderate Biomarker [7]
SOX15 OTTB37I1 moderate Biomarker [7]
SPATS2L OTFO07H8 moderate Biomarker [1]
SSPN OTYG2SL7 moderate Biomarker [1]
SUN1 OTIU8V4U moderate Biomarker [1]
SYNE2 OTBUXGQ0 moderate Biomarker [1]
SYNPO2L OTA7RKXZ moderate Biomarker [1]
TBX5 OT70PISV moderate Biomarker [1]
TTN OT0LZ058 moderate Biomarker [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 102 DOT(s)

References

1 Multi-ethnic genome-wide association study for atrial fibrillation.Nat Genet. 2018 Jun 11;50(9):1225-1233. doi: 10.1038/s41588-018-0133-9.
2 In vivo electrophysiologic studies in endothelial nitric oxide synthase (eNOS)-deficient mice.J Cardiovasc Electrophysiol. 2001 Nov;12(11):1295-301. doi: 10.1046/j.1540-8167.2001.01295.x.
3 GATA4 loss-of-function mutations in familial atrial fibrillation. Clin Chim Acta. 2011 Sep 18;412(19-20):1825-30. doi: 10.1016/j.cca.2011.06.017. Epub 2011 Jun 25.
4 Novel connexin40 missense mutations in patients with familial atrial fibrillation. Europace. 2010 Oct;12(10):1421-7. doi: 10.1093/europace/euq274. Epub 2010 Jul 21.
5 A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005 Jul 15;332(4):1012-9. doi: 10.1016/j.bbrc.2005.05.054.
6 A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. J Am Coll Cardiol. 2008 Oct 14;52(16):1326-34. doi: 10.1016/j.jacc.2008.07.013.
7 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.
8 Impact of CYP2C19 gene polymorphism on warfarin maintenance doses in patients with non-valvular atrial fibrillation.Gene. 2016 Oct 10;591(1):80-84. doi: 10.1016/j.gene.2016.06.046. Epub 2016 Jun 26.
9 The prognostic value of big endothelin-1 in more than 2,300 patients with heart failure enrolled in the Valsartan Heart Failure Trial (Val-HeFT).J Card Fail. 2006 Jun;12(5):375-80. doi: 10.1016/j.cardfail.2006.02.013.
10 Do human atrial 5-HT4 receptors mediate arrhythmias?.Trends Pharmacol Sci. 1994 Dec;15(12):451-5. doi: 10.1016/0165-6147(94)90058-2.
11 Atrial-selective sodium channel block as a novel strategy for the management of atrial fibrillation.J Electrocardiol. 2009 Nov-Dec;42(6):543-8. doi: 10.1016/j.jelectrocard.2009.07.007. Epub 2009 Aug 20.
12 Valsartan reduces the incidence of atrial fibrillation in patients with heart failure: results from the Valsartan Heart Failure Trial (Val-HeFT).Am Heart J. 2005 Mar;149(3):548-57. doi: 10.1016/j.ahj.2004.09.033.
13 Soluble E-selectin, von Willebrand factor, soluble thrombomodulin, and total body nitrate/nitrite product as indices of endothelial damage/dysfunction in paroxysmal, persistent, and permanent atrial fibrillation.Chest. 2007 Oct;132(4):1253-8. doi: 10.1378/chest.07-1185. Epub 2007 Sep 21.
14 Genome-wide association study of PR interval.Nat Genet. 2010 Feb;42(2):153-9. doi: 10.1038/ng.517. Epub 2010 Jan 10.
15 Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet. 2009 May;54(5):277-83. doi: 10.1038/jhg.2009.26. Epub 2009 Apr 3.
16 KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003 Jan 10;299(5604):251-4. doi: 10.1126/science.1077771.
17 Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. Int J Cardiol. 2012 May 31;157(2):305-7. doi: 10.1016/j.ijcard.2012.03.132. Epub 2012 Apr 6.
18 Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 2012 Oct;30(4):783-90. doi: 10.3892/ijmm.2012.1068. Epub 2012 Jul 18.
19 Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet. 2004 Nov;75(5):899-905. doi: 10.1086/425342. Epub 2004 Sep 13.
20 A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. Nat Commun. 2016 Apr 12;7:11303. doi: 10.1038/ncomms11303.
21 A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 2013 May;31(5):1119-26. doi: 10.3892/ijmm.2013.1316. Epub 2013 Mar 22.
22 Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med. 2008 Jul 10;359(2):158-65. doi: 10.1056/NEJMoa0706300.
23 Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell. 2008 Dec 12;135(6):1017-27. doi: 10.1016/j.cell.2008.10.022.
24 A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. Eur J Med Genet. 2014 Jan;57(1):25-31. doi: 10.1016/j.ejmg.2013.11.004. Epub 2013 Dec 10.
25 Mutations in sodium channel 1- and 2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol. 2009 Jun;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6.
26 Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. Biochem Biophys Res Commun. 2010 Jul 16;398(1):98-104. doi: 10.1016/j.bbrc.2010.06.042. Epub 2010 Jun 15.
27 Mutations of the SCN4B-encoded sodium channel 4 subunit in familial atrial fibrillation. Int J Mol Med. 2013 Jul;32(1):144-50. doi: 10.3892/ijmm.2013.1355. Epub 2013 Apr 22.
28 Mice with cardiac-restricted angiotensin-converting enzyme (ACE) have atrial enlargement, cardiac arrhythmia, and sudden death.Am J Pathol. 2004 Sep;165(3):1019-32. doi: 10.1016/S0002-9440(10)63363-9.
29 [Effect of benazepril on atrial cytoskeleton remodeling in the canine atrial fibrillation models].Zhonghua Yi Xue Za Zhi. 2009 Oct 20;89(38):2718-21.
30 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.Nat Genet. 2017 Jun;49(6):953-958. doi: 10.1038/ng.3842. Epub 2017 Apr 17.
31 Meta-analysis identifies six new susceptibility loci for atrial fibrillation.Nat Genet. 2012 Apr 29;44(6):670-5. doi: 10.1038/ng.2261.