ATFB14
MCID: ATR068
MIFTS: 21

Atrial Fibrillation, Familial, 14 (ATFB14)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 14

MalaCards integrated aliases for Atrial Fibrillation, Familial, 14:

Name: Atrial Fibrillation, Familial, 14 56 73 29 6 71
Atfb14 56 73
Fibrillation, Atrial, Familial, Type 14 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, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615378
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
UMLS 71 C3809312

Summaries for Atrial Fibrillation, Familial, 14

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). (615378)

MalaCards based summary : Atrial Fibrillation, Familial, 14, is also known as atfb14. An important gene associated with Atrial Fibrillation, Familial, 14 is SCN2B (Sodium Voltage-Gated Channel Beta Subunit 2). Affiliated tissues include heart, and related phenotypes are hypertension and paroxysmal atrial fibrillation

UniProtKB/Swiss-Prot : 73 Atrial fibrillation, familial, 14: 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, 14

Human phenotypes related to Atrial Fibrillation, Familial, 14:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 occasional (7.5%) HP:0000822
2 paroxysmal atrial fibrillation 31 very rare (1%) HP:0004757
3 prolonged pr interval 31 very rare (1%) HP:0012248
4 st segment elevation 31 very rare (1%) HP:0012251

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
hypertension (in some patients)

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

Clinical features from OMIM:

615378

Drugs & Therapeutics for Atrial Fibrillation, Familial, 14

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 14

Genetic Tests for Atrial Fibrillation, Familial, 14

Genetic tests related to Atrial Fibrillation, Familial, 14:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 14 29 SCN2B

Anatomical Context for Atrial Fibrillation, Familial, 14

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 14:

40
Heart

Publications for Atrial Fibrillation, Familial, 14

Articles related to Atrial Fibrillation, Familial, 14:

(showing 2, show less)
# 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, 14

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 14:

6 (showing 16, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2B NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln)SNV Pathogenic 60770 rs72544145 11:118039454-118039454 11:118168739-118168739
2 SCN2B NM_004588.5(SCN2B):c.611C>T (p.Thr204Met)SNV Conflicting interpretations of pathogenicity 655020 11:118037639-118037639 11:118166924-118166924
3 SCN2B NM_004588.5(SCN2B):c.449-2A>CSNV Uncertain significance 225465 rs1085307094 11:118037803-118037803 11:118167088-118167088
4 SCN2B NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp)SNV Uncertain significance 60769 rs17121819 11:118039455-118039455 11:118168740-118168740
5 SCN2B NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln)SNV Uncertain significance 544054 rs753389706 11:118037789-118037789 11:118167074-118167074
6 SCN2B NM_004588.5(SCN2B):c.93G>T (p.Glu31Asp)SNV Uncertain significance 567878 rs767173208 11:118039444-118039444 11:118168729-118168729
7 SCN2B NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly)SNV Uncertain significance 60776 rs587777023 11:118037618-118037618 11:118166903-118166903
8 SCN2B NM_004588.5(SCN2B):c.410G>A (p.Arg137His)SNV Uncertain significance 239959 rs878854712 11:118038838-118038838 11:118168123-118168123
9 SCN2B NM_004588.5(SCN2B):c.25C>T (p.Arg9Cys)SNV Uncertain significance 239958 rs878854711 11:118047122-118047122 11:118176407-118176407
10 SCN2B NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys)SNV Uncertain significance 408876 rs760669515 11:118038998-118038998 11:118168283-118168283
11 SCN2B NM_004588.5(SCN2B):c.292C>G (p.Arg98Gly)SNV Uncertain significance 408877 rs771234231 11:118038956-118038956 11:118168241-118168241
12 SCN2B NM_004588.5(SCN2B):c.251G>A (p.Arg84His)SNV Uncertain significance 408878 rs201460753 11:118038997-118038997 11:118168282-118168282
13 SCN2B NM_004588.5(SCN2B):c.140G>A (p.Arg47His)SNV Uncertain significance 408875 rs17121818 11:118039397-118039397 11:118168682-118168682
14 SCN2B NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)SNV Uncertain significance 408874 rs115353159 11:118037672-118037672 11:118166957-118166957
15 SCN2B NM_004588.5(SCN2B):c.349G>A (p.Val117Met)SNV Uncertain significance 477770 rs754755062 11:118038899-118038899 11:118168184-118168184
16 SCN2B NM_004588.5(SCN2B):c.238-6C>TSNV Likely benign 477769 rs200842493 11:118039016-118039016 11:118168301-118168301

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 14:

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 SCN2B p.Arg28Trp VAR_029131 rs17121819
2 SCN2B p.Arg28Gln VAR_070229 rs72544145

Expression for Atrial Fibrillation, Familial, 14

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 14.

Pathways for Atrial Fibrillation, Familial, 14

GO Terms for Atrial Fibrillation, Familial, 14

Sources for Atrial Fibrillation, Familial, 14

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