ATFB10
MCID: ATR061
MIFTS: 24

Atrial Fibrillation, Familial, 10 (ATFB10)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 10

MalaCards integrated aliases for Atrial Fibrillation, Familial, 10:

Name: Atrial Fibrillation, Familial, 10 57 74 29 13 6 72
Atfb10 57 74
Fibrillation, Atrial, Familial, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial fibrillation, familial, 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D001281
MedGen 42 C3151464
UMLS 72 C3151464

Summaries for Atrial Fibrillation, Familial, 10

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 atrial fibrillation, see 608583. (614022)

MalaCards based summary : Atrial Fibrillation, Familial, 10, is also known as atfb10. An important gene associated with Atrial Fibrillation, Familial, 10 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5). Affiliated tissues include heart, and related phenotypes are left ventricular hypertrophy and tricuspid regurgitation

UniProtKB/Swiss-Prot : 74 Atrial fibrillation, familial, 10: 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, 10

Human phenotypes related to Atrial Fibrillation, Familial, 10:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
2 tricuspid regurgitation 32 occasional (7.5%) HP:0005180
3 atrial flutter 32 occasional (7.5%) HP:0004749
4 paroxysmal atrial tachycardia 32 occasional (7.5%) HP:0006671
5 left atrial enlargement 32 very rare (1%) HP:0031295
6 paroxysmal atrial fibrillation 32 HP:0004757

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial fibrillation, paroxysmal
atrial flutter, paroxysmal (in some patients)
atrial tachycardia, ectopic (in some patients)
intraventricular conduction delay (in some patients)
left ventricular enlargement (in some patients)
more

Clinical features from OMIM:

614022

Drugs & Therapeutics for Atrial Fibrillation, Familial, 10

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 10

Genetic Tests for Atrial Fibrillation, Familial, 10

Genetic tests related to Atrial Fibrillation, Familial, 10:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 10 29 SCN5A

Anatomical Context for Atrial Fibrillation, Familial, 10

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 10:

41
Heart

Publications for Atrial Fibrillation, Familial, 10

Articles related to Atrial Fibrillation, Familial, 10:

# Title Authors PMID Year
1
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 8 71
18378609 2008
2
Cardiac sodium channel mutation in atrial fibrillation. 8 71
18088563 2008
3
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. 8 71
16684018 2006
4
Letter regarding article by McNair et al, "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". 71
15998690 2005
5
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 71
15579534 2004
6
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 71
15466643 2004
7
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 71
12522116 2003
8
Identification of a genetic locus for familial atrial fibrillation. 8
9070470 1997
9
Familial automaticity-conduction disorder with associated cardiomyopathy. 71
3953067 1986

Variations for Atrial Fibrillation, Familial, 10

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 10:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN5A NM_000335.4(SCN5A): c.3820G> A (p.Asp1274Asn) single nucleotide variant Pathogenic rs137854618 3:38607917-38607917 3:38566426-38566426
2 SCN5A NM_000335.4(SCN5A): c.1410C> G (p.Asn470Lys) single nucleotide variant Pathogenic rs199473115 3:38646328-38646328 3:38604837-38604837
3 SCN5A NM_001099404.1(SCN5A): c.615T> G (p.Tyr205Ter) single nucleotide variant Pathogenic 3:38655554-38655554 3:38614063-38614063
4 SCN5A NM_000335.4(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 3:38655272-38655272 3:38613781-38613781
5 SCN5A NM_000335.4(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 3:38648201-38648201 3:38606710-38606710
6 SCN5A NM_000335.4(SCN5A): c.1963G> A (p.Glu655Lys) single nucleotide variant Likely pathogenic rs199473579 3:38640469-38640469 3:38598978-38598978
7 SCN5A NM_000335.4(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 3:38645526-38645526 3:38604035-38604035
8 SCN5A NM_000335.4(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 3:38622493-38622493 3:38581002-38581002
9 SCN5A NM_000335.4(SCN5A): c.5869C> T (p.Arg1957Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 3:38591991-38591991 3:38550500-38550500
10 SCN5A NM_000335.4(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 3:38651279-38651279 3:38609788-38609788
11 SCN5A NM_000335.4(SCN5A): c.5735G> A (p.Arg1912His) single nucleotide variant Uncertain significance rs199473327 3:38592125-38592125 3:38550634-38550634
12 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 3:38592174-38592174 3:38550683-38550683
13 SCN5A NM_000335.4(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 3:38622570-38622570 3:38581079-38581079
14 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 3:38647498-38647498 3:38606007-38606007
15 SCN5A NM_000335.4(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 3:38622532-38622532 3:38581041-38581041
16 SCN5A NM_000335.4(SCN5A): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs199473595 3:38616898-38616898 3:38575407-38575407
17 SCN5A NM_000335.4(SCN5A): c.4783T> A (p.Phe1595Ile) single nucleotide variant Uncertain significance rs199473278 3:38595797-38595797 3:38554306-38554306
18 SCN5A NM_000335.4(SCN5A): c.5800G> A (p.Gly1934Ser) single nucleotide variant Uncertain significance rs199473637 3:38592060-38592060 3:38550569-38550569
19 SCN5A NM_000335.4(SCN5A): c.5901C> G (p.Ile1967Met) single nucleotide variant Uncertain significance rs199473333 3:38591959-38591959 3:38550468-38550468
20 SCN5A NM_000335.4(SCN5A): c.5783G> A (p.Arg1928His) single nucleotide variant Uncertain significance rs727504822 3:38592077-38592077 3:38550586-38550586
21 SCN5A NM_000335.4(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 3:38674647-38674647 3:38633156-38633156
22 SCN5A NM_000335.4(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 3:38622726-38622726 3:38581235-38581235
23 SCN5A NM_000335.4(SCN5A): c.5792C> T (p.Ala1931Val) single nucleotide variant Uncertain significance 3:38592068-38592068 3:38550577-38550577
24 SCN5A NM_000335.4(SCN5A): c.1333C> G (p.His445Asp) single nucleotide variant Uncertain significance rs199473112 3:38647447-38647447 3:38605956-38605956
25 SCN5A NM_000335.4(SCN5A): c.5958C> A (p.Asn1986Lys) single nucleotide variant Uncertain significance rs199473335 3:38591902-38591902 3:38550411-38550411
26 SCN5A NM_000335.4(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 3:38628928-38628928 3:38587437-38587437

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 10:

74 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Glu1053Lys VAR_026368 rs137854617
2 SCN5A p.Met138Ile VAR_055161 rs199473060
3 SCN5A p.Glu428Lys VAR_055172 rs199473111
4 SCN5A p.His445Asp VAR_055173 rs199473112
5 SCN5A p.Asn470Lys VAR_055175 rs199473115
6 SCN5A p.Ala572Asp VAR_055178 rs36210423
7 SCN5A p.Glu655Lys VAR_055180 rs199473579
8 SCN5A p.Thr1131Ile VAR_055186 rs199473197
9 SCN5A p.Arg1826Cys VAR_055214 rs199473635
10 SCN5A p.Val1951Met VAR_055219 rs41315493
11 SCN5A p.Asn1987Lys VAR_065865 rs199473335

Expression for Atrial Fibrillation, Familial, 10

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 10.

Pathways for Atrial Fibrillation, Familial, 10

GO Terms for Atrial Fibrillation, Familial, 10

Sources for Atrial Fibrillation, Familial, 10

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64 QIAGEN
69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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