ATFB13
MCID: ATR072
MIFTS: 20

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 56 73 29 6 71
Atfb13 56 73
Fibrillation, Atrial, Familial, Type 13 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
atrial fibrillation, familial, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615377
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
SNOMED-CT via HPO 68 263681008 282825002 60573004
UMLS 71 C3809311

Summaries for Atrial Fibrillation, Familial, 13

OMIM : 56 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, is also known as atfb13. 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 : 73 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.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 13

Human phenotypes related to Atrial Fibrillation, Familial, 13:

31
# Description HPO Frequency HPO Source Accession
1 aortic valve stenosis 31 occasional (7.5%) HP:0001650
2 paroxysmal atrial fibrillation 31 HP:0004757
3 left atrial enlargement 31 HP:0031295

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
19808477 2009
2
Identification of a genetic locus for familial atrial fibrillation. 56
9070470 1997

Variations for Atrial Fibrillation, Familial, 13

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His)SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
2 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)SNV Pathogenic/Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
3 SCN1B NM_001037.5(SCN1B):c.448+193G>ASNV Conflicting interpretations of pathogenicity 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
4 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)SNV Uncertain significance 190870 rs786205834 19:35521762-35521762 19:35030858-35030858
5 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His)SNV Uncertain significance 190857 rs180943300 19:35523525-35523525 19:35032621-35032621
6 SCN1B NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)SNV Uncertain significance 60768 rs72550247 19:35530029-35530029 19:35039125-35039125
7 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn)SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
8 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)SNV Uncertain significance 619998 rs1555720743 19:35524542-35524542 19:35033638-35033638

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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