Familial atrial fibrillation

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 334
OMIM Id: 607554
608583
608988
611493
611494
612201
612240
613055
613980
614022
614049
614050
615377
615378
ICD-10: I48
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
19666641 [IBIS]
Age of onset: Neonatal
Infancy
Adult
19666641 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder. (PMID:24333117, 23551519)

Symptom Information: Sort by abundance 

1
(HPO:0001727) Thromboembolic stroke Occasional [IBIS] 14% (n=170) 23604097 IBIS 4 / 7739
2
(HPO:0001644) Dilated cardiomyopathy Occasional [IBIS] 8% (n=59) 24333117 IBIS 141 / 7739
3
(HPO:0012251) ST segment elevation 19808477 IBIS 7 / 7739
4
(HPO:0005150) Abnormal atrioventricular conduction 27066836 IBIS 16 / 7739
5
(HPO:0011702) Abnormal electrophysiology of sinoatrial node origin Occasional [IBIS] 14% (n=59) 24333117 IBIS 4 / 7739
6
(HPO:0001962) Palpitations 27066836 IBIS 62 / 7739
7
(HPO:0005110) Atrial fibrillation Frequent [IBIS] 18634977 IBIS 71 / 7739
8
(HPO:0004757) Paroxysmal atrial fibrillation Frequent [IBIS] 58% (n=170) 23604097 IBIS 16 / 7739
9
(HPO:0004754) Permanent atrial fibrillation Occasional [IBIS] 17% (n=59) 24333117 IBIS 8 / 7739
10
(HPO:0004749) Atrial flutter Rare [IBIS] 24333117 IBIS 20 / 7739
11
(HPO:0011687) AV nodal tachycardia Rare [IBIS] 24333117 IBIS 3 / 7739
12
(HPO:0006682) Ventricular extrasystoles Occasional [IBIS] 15% (n=59) 24333117 IBIS 25 / 7739
13
(HPO:0001678) Atrioventricular block Occasional [IBIS] 19% (n=59) 24333117 IBIS 59 / 7739
14
(HPO:0001645) Sudden cardiac death 23255276 IBIS 84 / 7739
15
(HPO:0001279) Syncope 23604097 IBIS 94 / 7739
16
(OMIM) Sinus node dysfunction Occasional [IBIS] 14% (n=59) 24333117 IBIS 3 / 7739

Associated genes:

KCNQ1; KCNE2; KCNJ2; KCNH2; SCN4B; NPPA; KCNA5; SCN3B; KCNJ2; SCN5A; GJA5; ABCC9; SCN1B; SCN2B; NUP155; KCNE1; ANF; NKX2-5; NKX2-6; GATA4; GATA5; GATA6; PITX2c; MYL4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ABCC9 rs387906805 pathogenic RCV000023103.3
GJA5 rs121434557 pathogenic RCV000018521.23
GJA5 rs387906612 pathogenic RCV000022512.29
GJA5 rs387906613 pathogenic RCV000022513.27
GJA5 rs387906614 pathogenic RCV000022514.27
GJA5 rs387906615 pathogenic RCV000022515.24
GJA5 rs587777304 pathogenic RCV000114757.2
KCNA5 rs121908590 pathogenic RCV000014411.26
KCNA5 rs121908591 pathogenic RCV000014412.18
KCNA5 rs121908592 pathogenic RCV000014413.24
KCNA5 rs121908593 pathogenic RCV000014414.26
KCNA5 rs199794307 pathogenic RCV000114990.2
KCNA5 rs587777336 pathogenic RCV000114991.2
KCNE2 rs199473366 pathogenic RCV000058371.2
KCNE2 rs74315449 pathogenic RCV000006427.2
KCNE2 rs74315449 pathogenic RCV000058377.2
KCNJ2 rs147750704 pathogenic RCV000023029.2
KCNJ2 rs147750704 pathogenic RCV000058307.2
KCNQ1 rs120074192 pathogenic RCV000003293.3
KCNQ1 rs120074192 pathogenic RCV000057673.2
KCNQ1 rs199472687 pathogenic RCV000057674.2
KCNQ1 rs199472689 pathogenic RCV000057677.2
KCNQ1 rs199472705 pathogenic RCV000115006.2
KCNQ1 rs199472705 pathogenic RCV000057725.2
KCNQ1 rs199472708 pathogenic RCV000115009.2
KCNQ1 rs199472709 pathogenic RCV000115007.2
KCNQ1 rs397515877 pathogenic RCV000114749.3
NPPA rs587776851 pathogenic RCV000019366.23
NPPA rs61757261 pathogenic RCV000114741.2
NUP155 rs587777339 pathogenic RCV000114997.3
SCN1B rs104894718 pathogenic RCV000184010.1
SCN1B rs16969925 pathogenic RCV000054537.2
SCN1B rs72550247 pathogenic RCV000054538.2
SCN2B rs17121819 pathogenic RCV000054539.2
SCN2B rs72544145 pathogenic RCV000054540.2
SCN3B rs121918282 pathogenic RCV000128811.5
SCN3B rs587777556 pathogenic RCV000128813.3
SCN3B rs587777557 pathogenic RCV000128814.3
SCN3B rs587777558 pathogenic RCV000128815.3
SCN4B rs587777559 pathogenic RCV000128816.2
SCN4B rs587777560 pathogenic RCV000128817.2
SCN5A rs137854617 pathogenic RCV000022945.2
SCN5A rs137854618 pathogenic RCV000022946.4
SCN5A rs199473060 pathogenic RCV000058644.2
SCN5A rs199473111 pathogenic RCV000058411.2
SCN5A rs199473111 pathogenic RCV000022950.4
SCN5A rs199473112 pathogenic RCV000058414.2
SCN5A rs199473112 pathogenic RCV000022948.2
SCN5A rs199473115 pathogenic RCV000022949.2
SCN5A rs199473115 pathogenic RCV000058421.2
SCN5A rs199473119 likely pathogenic RCV000196670.1
SCN5A rs199473197 likely pathogenic RCV000058569.2
SCN5A rs199473260 likely pathogenic RCV000171569.1
SCN5A rs199473324 pathogenic RCV000058796.2
SCN5A rs199473335 pathogenic RCV000058818.2
SCN5A rs199473335 pathogenic RCV000022947.2
SCN5A rs199473579 pathogenic RCV000058468.2
SCN5A rs199473579 pathogenic RCV000022951.2
SCN5A rs199473635 likely pathogenic RCV000058785.2
SCN5A rs41315493 pathogenic RCV000058810.2

Additional Information: