ATFB13
MCID: ATR072
MIFTS: 23

Atrial Fibrillation, Familial, 13 (ATFB13)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 13

MalaCards integrated aliases for Atrial Fibrillation, Familial, 13:

Name: Atrial Fibrillation, Familial, 13 57 74 29 6 72
Atfb13 57 74
Fibrillation, Atrial, Familial, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
saddle-back st-segment elevation shows beat-to-beat and day-to-day variability


HPO:

32
atrial fibrillation, familial, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D001281
UMLS 72 C3809311

Summaries for Atrial Fibrillation, Familial, 13

OMIM : 57 Atrial fibrillation 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 familial atrial fibrillation, see ATFB1 (608583). (615377)

MalaCards based summary : Atrial Fibrillation, Familial, 13, also known as atfb13, is related to brugada syndrome 5 and brugada syndrome. An important gene associated with Atrial Fibrillation, Familial, 13 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1). Affiliated tissues include heart, and related phenotypes are aortic valve stenosis and paroxysmal atrial fibrillation

UniProtKB/Swiss-Prot : 74 Atrial fibrillation, familial, 13: A familial 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, 13

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 13

Human phenotypes related to Atrial Fibrillation, Familial, 13:

32
# Description HPO Frequency HPO Source Accession
1 aortic valve stenosis 32 occasional (7.5%) HP:0001650
2 paroxysmal atrial fibrillation 32 HP:0004757
3 left atrial enlargement 32 HP:0031295

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial fibrillation, paroxysmal
left atrial enlargement on echocardiography
saddle-back st-segment elevation in precordial leads (in some patients)
aortic stenosis (in some patients)

Clinical features from OMIM:

615377

Drugs & Therapeutics for Atrial Fibrillation, Familial, 13

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 13

Genetic Tests for Atrial Fibrillation, Familial, 13

Genetic tests related to Atrial Fibrillation, Familial, 13:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 13 29 SCN1B

Anatomical Context for Atrial Fibrillation, Familial, 13

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 13:

41
Heart

Publications for Atrial Fibrillation, Familial, 13

Articles related to Atrial Fibrillation, Familial, 13:

# Title Authors PMID Year
1
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 8 71
19808477 2009
2
Identification of a genetic locus for familial atrial fibrillation. 8
9070470 1997

Variations for Atrial Fibrillation, Familial, 13

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 13:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 19:35524449-35524449 19:35033545-35033545
2 SCN1B NM_001037.5(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 19:35524558-35524558 19:35033654-35033654
3 SCN1B NM_001037.5(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 19:35524836-35524836 19:35033932-35033932
4 SCN1B NM_001037.5(SCN1B): c.158C> A (p.Thr53Asn) single nucleotide variant Uncertain significance 19:35523549-35523549 19:35032645-35032645
5 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance 19:35524542-35524542 19:35033638-35033638
6 SCN1B NM_001037.5(SCN1B): c.457G> A (p.Asp153Asn) single nucleotide variant Uncertain significance rs72550247 19:35530029-35530029 19:35039125-35039125
7 SCN1B NM_001037.5(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 19:35521762-35521762 19:35030858-35030858
8 SCN1B NM_001037.5(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 19:35523525-35523525 19:35032621-35032621

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 13:

74
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg85His VAR_070219 rs16969925
2 SCN1B p.Asp153Asn VAR_070220 rs72550247

Expression for Atrial Fibrillation, Familial, 13

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 13.

Pathways for Atrial Fibrillation, Familial, 13

GO Terms for Atrial Fibrillation, Familial, 13

Sources for Atrial Fibrillation, Familial, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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