ATFB3
MCID: ATR038
MIFTS: 17

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 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

Publications for Atrial Fibrillation, Familial, 3

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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh37 Chromosome 11, 2549189: 2549189
2 KCNQ1 NM_000218.2(KCNQ1): c.418A> G (p.Ser140Gly) single nucleotide variant Pathogenic rs120074192 GRCh38 Chromosome 11, 2527959: 2527959
3 KCNQ1 NM_000218.2(KCNQ1): c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) duplication Conflicting interpretations of pathogenicity rs397515877 GRCh37 Chromosome 11, 2466488: 2466496
4 KCNQ1 NM_000218.2(KCNQ1): c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) duplication Conflicting interpretations of pathogenicity rs397515877 GRCh38 Chromosome 11, 2445258: 2445266
5 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh37 Chromosome 11, 2790147: 2790147
6 KCNQ1 NM_000218.2(KCNQ1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic rs397508097 GRCh38 Chromosome 11, 2768917: 2768917
7 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh37 Chromosome 11, 2593245: 2593245
8 KCNQ1 NM_000218.2(KCNQ1): c.686G> A (p.Gly229Asp) single nucleotide variant Pathogenic rs199472708 GRCh38 Chromosome 11, 2572015: 2572015
9 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh37 Chromosome 11, 2593251: 2593251
10 KCNQ1 NM_000218.2(KCNQ1): c.692G> A (p.Arg231His) single nucleotide variant Pathogenic rs199472709 GRCh38 Chromosome 11, 2572021: 2572021
11 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh37 Chromosome 11, 2592575: 2592575
12 KCNQ1 NM_000218.2(KCNQ1): c.625T> C (p.Ser209Pro) single nucleotide variant Pathogenic rs199472705 GRCh38 Chromosome 11, 2571345: 2571345

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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