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 58 76 30 6 74
Atfb13 58 76
Fibrillation, Atrial, Familial, Type 13 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
atrial fibrillation, familial, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615377
MeSH 45 D001281
SNOMED-CT via HPO 70 263681008 282825002 60573004
UMLS 74 C3809311

Summaries for Atrial Fibrillation, Familial, 13

OMIM : 58 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 and brugada syndrome 5. 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 aortic valve stenosis 33 occasional (7.5%) HP:0001650
2 paroxysmal atrial fibrillation 33 HP:0004757
3 left atrial enlargement 33 HP:0031295

Symptoms via clinical synopsis from OMIM:

58
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 30 SCN1B

Anatomical Context for Atrial Fibrillation, Familial, 13

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

42
Heart

Publications for Atrial Fibrillation, Familial, 13

Articles related to Atrial Fibrillation, Familial, 13:

# Title Authors Year
1
Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. ( 19808477 )
2009

Variations for Atrial Fibrillation, Familial, 13

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

76
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Arg85His VAR_070219 rs16969925
2 SCN1B p.Asp153Asn VAR_070220 rs72550247

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
2 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
3 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh37 Chromosome 19, 35524449: 35524449
4 SCN1B NM_001037.4(SCN1B): c.254G> A (p.Arg85His) single nucleotide variant Pathogenic rs16969925 GRCh38 Chromosome 19, 35033545: 35033545
5 SCN1B NM_001037.4(SCN1B): c.457G> A (p.Asp153Asn) single nucleotide variant Uncertain significance rs72550247 GRCh37 Chromosome 19, 35530029: 35530029
6 SCN1B NM_001037.4(SCN1B): c.457G> A (p.Asp153Asn) single nucleotide variant Uncertain significance rs72550247 GRCh38 Chromosome 19, 35039125: 35039125
7 SCN1B NM_001037.4(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 GRCh38 Chromosome 19, 35030858: 35030858
8 SCN1B NM_001037.4(SCN1B): c.38T> C (p.Leu13Pro) single nucleotide variant Uncertain significance rs786205834 GRCh37 Chromosome 19, 35521762: 35521762
9 SCN1B NM_001037.4(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 GRCh37 Chromosome 19, 35523525: 35523525
10 SCN1B NM_001037.4(SCN1B): c.134G> A (p.Arg45His) single nucleotide variant Uncertain significance rs180943300 GRCh38 Chromosome 19, 35032621: 35032621
11 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh38 Chromosome 19, 35033932: 35033932
12 SCN1B NM_001037.4(SCN1B): c.448+193G> A single nucleotide variant Conflicting interpretations of pathogenicity rs66876876 GRCh37 Chromosome 19, 35524836: 35524836
13 SCN1B NM_199037.4(SCN1B): c.158C> A (p.Thr53Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 35523549: 35523549
14 SCN1B NM_199037.4(SCN1B): c.158C> A (p.Thr53Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 35032645: 35032645
15 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 35033638: 35033638
16 SCN1B NM_001037.5(SCN1B): c.347C> T (p.Ser116Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 35524542: 35524542

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

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