ATFB3
MCID: ATR038
MIFTS: 26

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 57 74 29 13 6 72
Atfb3 57 74
Fibrillation, Atrial, Familial, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
atrial fibrillation, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

MeSH 44 D001281
MedGen 42 C1837014
UMLS 72 C1837014

Summaries for Atrial Fibrillation, Familial, 3

OMIM : 57 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 familial atrial fibrillation and jervell and lange-nielsen 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 : 74 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

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 3

Human phenotypes related to Atrial Fibrillation, Familial, 3:

32
# Description HPO Frequency HPO Source Accession
1 thromboembolic stroke 32 frequent (33%) HP:0001727
2 stroke 32 HP:0001297
3 tachycardia 32 HP:0001649
4 atrial fibrillation 32 HP:0005110

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
24096004 2014
2
Long QT genetics manifesting as atrial fibrillation. 8 71
23851063 2013
3
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. 8 71
23350853 2013
4
Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. 8 71
19632626 2009
5
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 8 71
18452873 2008
6
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 8 71
16414944 2005
7
KCNQ1 gain-of-function mutation in familial atrial fibrillation. 8 71
12522251 2003
8
Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. 71
19646991 2010
9
Identification of a genetic locus for familial atrial fibrillation. 8
9070470 1997

Variations for Atrial Fibrillation, Familial, 3

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

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 11:2790147-2790147 11:2768917-2768917
2 KCNQ1 NM_000218.2(KCNQ1): c.1615C> T (p.Arg539Trp) single nucleotide variant Pathogenic rs199472795 11:2797214-2797214 11:2775984-2775984
3 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 11:2593245-2593245 11:2572015-2572015
4 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 11:2593251-2593251 11:2572021-2572021
5 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 11:2549189-2549189 11:2527959-2527959
6 KCNQ1 NM_000218.2(KCNQ1): c.805G> A (p.Gly269Ser) single nucleotide variant Pathogenic rs120074193 11:2594100-2594100 11:2572870-2572870
7 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 11:2592575-2592575 11:2571345-2571345
8 KCNQ1 NM_000218.2(KCNQ1): c.1085A> G (p.Lys362Arg) single nucleotide variant Pathogenic/Likely pathogenic rs12720458 11:2606494-2606494 11:2585264-2585264
9 KCNQ1 NM_000218.2(KCNQ1): c.1747C> T (p.Arg583Cys) single nucleotide variant Pathogenic/Likely pathogenic rs17221854 11:2799220-2799220 11:2777990-2777990
10 KCNQ1 NM_000218.2(KCNQ1): c.160_168dup (p.Ile54_Pro56dup) duplication Conflicting interpretations of pathogenicity rs397515877 11:2466488-2466496 11:2445258-2445266
11 KCNQ1 NM_000218.2(KCNQ1): c.1885G> A (p.Gly629Ser) single nucleotide variant Uncertain significance rs775608046 11:2869087-2869087 11:2847857-2847857
12 KCNQ1 NM_000218.2(KCNQ1): c.644T> G (p.Val215Gly) single nucleotide variant Uncertain significance rs368011737 11:2592594-2592594 11:2571364-2571364
13 KCNQ1 NM_000218.2(KCNQ1): c.1354C> T (p.Arg452Trp) single nucleotide variant Uncertain significance rs140452381 11:2610045-2610045 11:2588815-2588815
14 KCNQ1 NM_000218.2(KCNQ1): c.296C> G (p.Pro99Arg) single nucleotide variant Uncertain significance rs370435862 11:2466624-2466624 11:2445394-2445394
15 KCNQ1 NM_000218.2(KCNQ1): c.1128+5G> A single nucleotide variant Uncertain significance rs76735093 11:2606542-2606542 11:2585312-2585312
16 KCNQ1 NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln) single nucleotide variant Uncertain significance rs145229963 11:2610046-2610046 11:2588816-2588816
17 KCNQ1 NM_000218.2(KCNQ1): c.1555C> T (p.Arg519Cys) single nucleotide variant Uncertain significance rs199472787 11:2790114-2790114 11:2768884-2768884
18 KCNQ1 NM_000218.2(KCNQ1): c.1861G> A (p.Gly621Ser) single nucleotide variant Uncertain significance rs199472820 11:2869063-2869063 11:2847833-2847833
19 KCNQ1 NM_000218.2(KCNQ1): c.514G> A (p.Val172Met) single nucleotide variant Uncertain significance rs199472694 11:2591894-2591894 11:2570664-2570664

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

74
# Symbol AA change Variation ID SNP ID
1 KCNQ1 p.Ser140Gly VAR_015742 rs120074192

Expression for Atrial Fibrillation, Familial, 3

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 3.

Pathways for Atrial Fibrillation, Familial, 3

GO Terms for Atrial Fibrillation, Familial, 3

Sources for Atrial Fibrillation, Familial, 3

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73 UMLS via Orphanet
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