ATFB3
MCID: ATR038
MIFTS: 21

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 58 76 30 13 6 74
Atfb3 58 76
Fibrillation, Atrial, Familial, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
atrial fibrillation, familial, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607554
MeSH 45 D001281
MedGen 43 C1837014
UMLS 74 C1837014

Summaries for Atrial Fibrillation, Familial, 3

OMIM : 58 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, is also known as atfb3. 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 : 76 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.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 3

Human phenotypes related to Atrial Fibrillation, Familial, 3:

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

Symptoms via clinical synopsis from OMIM:

58
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 30 KCNQ1

Anatomical Context for Atrial Fibrillation, Familial, 3

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

42
Heart, Testes

Publications for Atrial Fibrillation, Familial, 3

Articles related to Atrial Fibrillation, Familial, 3:

(show all 13)
# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. ( 26592461 )
2016
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. ( 24096004 )
2014
5
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. ( 23350853 )
2013
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
7
Long QT genetics manifesting as atrial fibrillation. ( 23851063 )
2013
8
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
9
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. ( 19646991 )
2010
10
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. ( 19632626 )
2009
11
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. ( 18452873 )
2008
12
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. ( 16414944 )
2005
13
KCNQ1 gain-of-function mutation in familial atrial fibrillation. ( 12522251 )
2003

Variations for Atrial Fibrillation, Familial, 3

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

76
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Ser140Gly VAR_015742 rs120074192

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

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs17221854 GRCh37 Chromosome 11, 2799220: 2799220
2 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs17221854 GRCh38 Chromosome 11, 2777990: 2777990
3 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh37 Chromosome 11, 2549189: 2549189
4 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh38 Chromosome 11, 2527959: 2527959
5 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh37 Chromosome 11, 2594100: 2594100
6 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 GRCh38 Chromosome 11, 2572870: 2572870
7 KCNQ1 NM_000218.2(KCNQ1): c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) duplication Conflicting interpretations of pathogenicity rs397515877 GRCh37 Chromosome 11, 2466488: 2466496
8 KCNQ1 NM_000218.2(KCNQ1): c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) duplication Conflicting interpretations of pathogenicity rs397515877 GRCh38 Chromosome 11, 2445258: 2445266
9 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 GRCh37 Chromosome 11, 2606494: 2606494
10 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 GRCh38 Chromosome 11, 2585264: 2585264
11 KCNQ1 NM_000218.2(KCNQ1): c.1354C> T (p.Arg452Trp) single nucleotide variant Uncertain significance rs140452381 GRCh37 Chromosome 11, 2610045: 2610045
12 KCNQ1 NM_000218.2(KCNQ1): c.1354C> T (p.Arg452Trp) single nucleotide variant Uncertain significance rs140452381 GRCh38 Chromosome 11, 2588815: 2588815
13 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
14 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
15 KCNQ1 NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp) single nucleotide variant Pathogenic rs199472795 GRCh37 Chromosome 11, 2797214: 2797214
16 KCNQ1 NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp) single nucleotide variant Pathogenic rs199472795 GRCh38 Chromosome 11, 2775984: 2775984
17 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh37 Chromosome 11, 2593245: 2593245
18 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh38 Chromosome 11, 2572015: 2572015
19 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
20 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh38 Chromosome 11, 2572021: 2572021
21 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh37 Chromosome 11, 2610046: 2610046
22 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 GRCh38 Chromosome 11, 2588816: 2588816
23 KCNQ1 NM_000218.2(KCNQ1): c.1555C> T (p.Arg519Cys) single nucleotide variant Uncertain significance rs199472787 GRCh37 Chromosome 11, 2790114: 2790114
24 KCNQ1 NM_000218.2(KCNQ1): c.1555C> T (p.Arg519Cys) single nucleotide variant Uncertain significance rs199472787 GRCh38 Chromosome 11, 2768884: 2768884
25 KCNQ1 NM_000218.2(KCNQ1): c.1861G> A (p.Gly621Ser) single nucleotide variant Uncertain significance rs199472820 GRCh37 Chromosome 11, 2869063: 2869063
26 KCNQ1 NM_000218.2(KCNQ1): c.1861G> A (p.Gly621Ser) single nucleotide variant Uncertain significance rs199472820 GRCh38 Chromosome 11, 2847833: 2847833
27 KCNQ1 NM_000218.2(KCNQ1): c.514G> A (p.Val172Met) single nucleotide variant Uncertain significance rs199472694 GRCh37 Chromosome 11, 2591894: 2591894
28 KCNQ1 NM_000218.2(KCNQ1): c.514G> A (p.Val172Met) single nucleotide variant Uncertain significance rs199472694 GRCh38 Chromosome 11, 2570664: 2570664
29 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh37 Chromosome 11, 2592575: 2592575
30 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh38 Chromosome 11, 2571345: 2571345
31 KCNQ1 NM_000218.2(KCNQ1): c.296C> G (p.Pro99Arg) single nucleotide variant Uncertain significance rs370435862 GRCh38 Chromosome 11, 2445394: 2445394
32 KCNQ1 NM_000218.2(KCNQ1): c.296C> G (p.Pro99Arg) single nucleotide variant Uncertain significance rs370435862 GRCh37 Chromosome 11, 2466624: 2466624
33 KCNQ1 NM_000218.2(KCNQ1): c.1128+5G> A single nucleotide variant Uncertain significance rs76735093 GRCh37 Chromosome 11, 2606542: 2606542
34 KCNQ1 NM_000218.2(KCNQ1): c.1128+5G> A single nucleotide variant Uncertain significance rs76735093 GRCh38 Chromosome 11, 2585312: 2585312
35 KCNQ1 NM_000218.2(KCNQ1): c.1885G> A (p.Gly629Ser) single nucleotide variant Uncertain significance rs775608046 GRCh38 Chromosome 11, 2847857: 2847857
36 KCNQ1 NM_000218.2(KCNQ1): c.1885G> A (p.Gly629Ser) single nucleotide variant Uncertain significance rs775608046 GRCh37 Chromosome 11, 2869087: 2869087
37 KCNQ1 NM_000218.2(KCNQ1): c.644T> G (p.Val215Gly) single nucleotide variant Uncertain significance rs368011737 GRCh38 Chromosome 11, 2571364: 2571364
38 KCNQ1 NM_000218.2(KCNQ1): c.644T> G (p.Val215Gly) single nucleotide variant Uncertain significance rs368011737 GRCh37 Chromosome 11, 2592594: 2592594

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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