ATFB3
MCID: ATR038
MIFTS: 30

Atrial Fibrillation, Familial, 3 (ATFB3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 3

MalaCards integrated aliases for Atrial Fibrillation, Familial, 3:

Name: Atrial Fibrillation, Familial, 3 56 73 29 13 6 71
Atfb3 56 73
Fibrillation, Atrial, Familial, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see, e.g., atfb1, )
allelic disorder to long qt syndrome-1 (lqt1, )


HPO:

31
atrial fibrillation, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 56 607554
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
MedGen 41 C1837014
UMLS 71 C1837014

Summaries for Atrial Fibrillation, Familial, 3

OMIM : 56 Atrial fibrillation (AF) is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. (607554)

MalaCards based summary : Atrial Fibrillation, Familial, 3, also known as atfb3, is related to wilms tumor predisposition and silver-russell syndrome 1. An important gene associated with Atrial Fibrillation, Familial, 3 is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1). Affiliated tissues include heart and testes, and related phenotypes are thromboembolic stroke and stroke

UniProtKB/Swiss-Prot : 73 Atrial fibrillation, familial, 3: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Related Diseases for Atrial Fibrillation, Familial, 3

Graphical network of the top 20 diseases related to Atrial Fibrillation, Familial, 3:



Diseases related to Atrial Fibrillation, Familial, 3

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 3

Human phenotypes related to Atrial Fibrillation, Familial, 3:

31
# Description HPO Frequency HPO Source Accession
1 thromboembolic stroke 31 frequent (33%) HP:0001727
2 stroke 31 HP:0001297
3 atrial fibrillation 31 HP:0005110
4 tachycardia 31 HP:0001649

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrial fibrillation, isolated
rapid heart beat
irregular heart beat
thromboembolic stroke may occur

Clinical features from OMIM:

607554

Drugs & Therapeutics for Atrial Fibrillation, Familial, 3

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 3

Genetic Tests for Atrial Fibrillation, Familial, 3

Genetic tests related to Atrial Fibrillation, Familial, 3:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 3 29 KCNQ1

Anatomical Context for Atrial Fibrillation, Familial, 3

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 3:

40
Heart, Testes

Publications for Atrial Fibrillation, Familial, 3

Articles related to Atrial Fibrillation, Familial, 3:

# Title Authors PMID Year
1
A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. 56 6
24096004 2014
2
Long QT genetics manifesting as atrial fibrillation. 56 6
23851063 2013
3
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. 6 56
23350853 2013
4
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. 56 6
19632626 2009
5
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 6 56
18452873 2008
6
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 56 6
16414944 2005
7
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 56 6
12522251 2003
8
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. 6
19646991 2010
9
Identification of a genetic locus for familial atrial fibrillation. 56
9070470 1997

Variations for Atrial Fibrillation, Familial, 3

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 3:

6 (show top 50) (show all 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_181798.1(KCNQ1):c.37A>G (p.Ser13Gly)SNV Pathogenic 3143 rs120074192 11:2549189-2549189 11:2527959-2527959
2 KCNQ1 NM_181798.1(KCNQ1):c.424G>A (p.Gly142Ser)SNV Pathogenic 3144 rs120074193 11:2594100-2594100 11:2572870-2572870
3 KCNQ1 NM_181798.1(KCNQ1):c.1207C>T (p.Gln403Ter)SNV Pathogenic 52996 rs397508097 11:2790147-2790147 11:2768917-2768917
4 KCNQ1 NM_181798.1(KCNQ1):c.1234C>T (p.Arg412Trp)SNV Pathogenic 52998 rs199472795 11:2797214-2797214 11:2775984-2775984
5 KCNQ1 NM_181798.1(KCNQ1):c.305G>A (p.Gly102Asp)SNV Pathogenic 53085 rs199472708 11:2593245-2593245 11:2572015-2572015
6 KCNQ1 NM_181798.1(KCNQ1):c.311G>A (p.Arg104His)SNV Pathogenic 53087 rs199472709 11:2593251-2593251 11:2572021-2572021
7 KCNQ1 NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro)SNV Pathogenic 67094 rs199472705 11:2592575-2592575 11:2571345-2571345
8 KCNQ1 NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg)SNV Pathogenic/Likely pathogenic 52953 rs12720458 11:2606494-2606494 11:2585264-2585264
9 KCNQ1 NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys)SNV Pathogenic/Likely pathogenic 3142 rs17221854 11:2799220-2799220 11:2777990-2777990
10 KCNQ1 NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr)SNV Conflicting interpretations of pathogenicity 3128 rs120074187 11:2594193-2594193 11:2572963-2572963
11 KCNQ1 NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)SNV Conflicting interpretations of pathogenicity 3131 rs17215500 11:2790111-2790111 11:2768881-2768881
12 KCNQ1 NM_181798.1(KCNQ1):c.973C>T (p.Arg325Trp)SNV Conflicting interpretations of pathogenicity 52980 rs140452381 11:2610045-2610045 11:2588815-2588815
13 KCNQ1 NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)SNV Conflicting interpretations of pathogenicity 67020 rs12720457 11:2608850-2608850 11:2587620-2587620
14 KCNQ1 NM_181798.1(KCNQ1):c.962C>T (p.Pro321Leu)SNV Conflicting interpretations of pathogenicity 67027 rs12720449 11:2610034-2610034 11:2588804-2588804
15 KCNQ1 NM_181798.1(KCNQ1):c.971G>A (p.Arg324Gln)SNV Conflicting interpretations of pathogenicity 67029 rs199472781 11:2610043-2610043 11:2588813-2588813
16 KCNQ1 NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)SNV Conflicting interpretations of pathogenicity 67109 rs199472728 11:2594115-2594115 11:2572885-2572885
17 KCNQ1 NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)SNV Conflicting interpretations of pathogenicity 138001 rs189991547 11:2594106-2594106 11:2572876-2572876
18 KCNQ1 NM_000218.3(KCNQ1):c.1394-8C>TSNV Conflicting interpretations of pathogenicity 138004 rs371488379 11:2683183-2683183 11:2661953-2661953
19 KCNQ1 NM_000218.3(KCNQ1):c.1794+11G>ASNV Conflicting interpretations of pathogenicity 138006 rs186188610 11:2799278-2799278 11:2778048-2778048
20 KCNQ1 NM_181798.1(KCNQ1):c.1563C>T (p.Val521=)SNV Conflicting interpretations of pathogenicity 138008 rs201698592 11:2869146-2869146 11:2847916-2847916
21 KCNQ1 NM_000218.3(KCNQ1):c.-5T>CSNV Conflicting interpretations of pathogenicity 138009 rs532941548 11:2466324-2466324 11:2445094-2445094
22 KCNQ1 NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)SNV Conflicting interpretations of pathogenicity 138012 rs148121889 11:2549230-2549230 11:2528000-2528000
23 KCNQ1 NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)SNV Conflicting interpretations of pathogenicity 163744 rs147091980 11:2869002-2869002 11:2847772-2847772
24 KCNQ1 NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His)SNV Conflicting interpretations of pathogenicity 67038 rs199472788 11:2790115-2790115 11:2768885-2768885
25 KCNQ1 NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)SNV Conflicting interpretations of pathogenicity 179293 rs727504769 11:2594195-2594195 11:2572965-2572965
26 KCNQ1 NM_000218.3(KCNQ1):c.780+12G>ASNV Conflicting interpretations of pathogenicity 879674 11:2593351-2593351 11:2572121-2572121
27 KCNQ1 NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)duplication Conflicting interpretations of pathogenicity 42487 rs397515877 11:2466480-2466481 11:2445250-2445251
28 KCNQ1 NM_181798.1(KCNQ1):c.994G>A (p.Asp332Asn)SNV Conflicting interpretations of pathogenicity 628813 rs747704276 11:2610066-2610066 11:2588836-2588836
29 KCNQ1 NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)SNV Conflicting interpretations of pathogenicity 749619 11:2869032-2869032 11:2847802-2847802
30 KCNQ1 NM_000218.3(KCNQ1):c.*81C>TSNV Conflicting interpretations of pathogenicity 880305 11:2869314-2869314 11:2848084-2848084
31 KCNQ1 NM_181798.1(KCNQ1):c.267C>A (p.Gly89=)SNV Conflicting interpretations of pathogenicity 413279 rs146350010 11:2592598-2592598 11:2571368-2571368
32 KCNQ1 NM_181798.1(KCNQ1):c.747+5G>ASNV Conflicting interpretations of pathogenicity 200842 rs76735093 11:2606542-2606542 11:2585312-2585312
33 KCNQ1 NM_181798.1(KCNQ1):c.1095A>G (p.Glu365=)SNV Conflicting interpretations of pathogenicity 200812 rs370676650 11:2683273-2683273 11:2662043-2662043
34 KCNQ1 NM_181798.1(KCNQ1):c.771C>T (p.Ala257=)SNV Conflicting interpretations of pathogenicity 215662 rs144615901 11:2608823-2608823 11:2587593-2587593
35 KCNQ1 NM_181798.1(KCNQ1):c.1494C>T (p.Pro498=)SNV Conflicting interpretations of pathogenicity 237226 rs112113213 11:2869077-2869077 11:2847847-2847847
36 KCNQ1 NM_181798.1(KCNQ1):c.1133+9C>TSNV Conflicting interpretations of pathogenicity 304227 rs770840921 11:2683320-2683320 11:2662090-2662090
37 KCNQ1 NM_181798.1(KCNQ1):c.133G>A (p.Val45Met)SNV Conflicting interpretations of pathogenicity 67078 rs199472694 11:2591894-2591894 11:2570664-2570664
38 KCNQ1 NM_181798.1(KCNQ1):c.*717T>GSNV Conflicting interpretations of pathogenicity 304257 rs189162344 11:2869950-2869950 11:2848720-2848720
39 KCNQ1 NM_181798.1(KCNQ1):c.*904T>CSNV Conflicting interpretations of pathogenicity 304267 rs186055804 11:2870137-2870137 11:2848907-2848907
40 KCNQ1 NM_181798.1(KCNQ1):c.*391G>ASNV Conflicting interpretations of pathogenicity 304244 rs774059974 11:2869624-2869624 11:2848394-2848394
41 KCNQ1 NM_181798.1(KCNQ1):c.6-7C>TSNV Conflicting interpretations of pathogenicity 304216 rs201682200 11:2549151-2549151 11:2527921-2527921
42 KCNQ1 NM_181798.1(KCNQ1):c.*266G>ASNV Conflicting interpretations of pathogenicity 304239 rs113029000 11:2869499-2869499 11:2848269-2848269
43 KCNQ1 NM_181798.1(KCNQ1):c.*837G>ASNV Conflicting interpretations of pathogenicity 304261 rs139633955 11:2870070-2870070 11:2848840-2848840
44 KCNQ1 NM_181798.1(KCNQ1):c.*1025G>CSNV Conflicting interpretations of pathogenicity 304270 rs181226788 11:2870258-2870258 11:2849028-2849028
45 KCNQ1 NM_000218.2(KCNQ1):c.386+14C>TSNV Conflicting interpretations of pathogenicity 378011 rs370023636 11:2466728-2466728 11:2445498-2445498
46 KCNQ1 NM_181798.1(KCNQ1):c.*633G>ASNV Uncertain significance 304254 rs886048173 11:2869866-2869866 11:2848636-2848636
47 KCNQ1 NM_181798.1(KCNQ1):c.*652G>ASNV Uncertain significance 304255 rs886048174 11:2869885-2869885 11:2848655-2848655
48 KCNQ1 NM_181798.1(KCNQ1):c.*47A>CSNV Uncertain significance 304233 rs754931159 11:2869280-2869280 11:2848050-2848050
49 KCNQ1 NM_181798.1(KCNQ1):c.*171G>ASNV Uncertain significance 304235 rs886048168 11:2869404-2869404 11:2848174-2848174
50 KCNQ1 NM_181798.1(KCNQ1):c.*1055C>TSNV Uncertain significance 304271 rs375155898 11:2870288-2870288 11:2849058-2849058

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 3:

73
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Ser140Gly VAR_015742 rs120074192

Expression for Atrial Fibrillation, Familial, 3

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Pathways for Atrial Fibrillation, Familial, 3

GO Terms for Atrial Fibrillation, Familial, 3

Sources for Atrial Fibrillation, Familial, 3

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