ATFB10
MCID: ATR061
MIFTS: 21

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 58 76 30 13 6 74
Atfb10 58 76
Fibrillation, Atrial, Familial, Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial fibrillation, familial, 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614022
MeSH 45 D001281
MedGen 43 C3151464
UMLS 74 C3151464

Summaries for Atrial Fibrillation, Familial, 10

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 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 : 76 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
2 tricuspid regurgitation 33 occasional (7.5%) HP:0005180
3 paroxysmal atrial tachycardia 33 occasional (7.5%) HP:0006671
4 atrial flutter 33 occasional (7.5%) HP:0004749
5 left atrial enlargement 33 very rare (1%) HP:0031295
6 paroxysmal atrial fibrillation 33 HP:0004757

Symptoms via clinical synopsis from OMIM:

58
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 30 SCN5A

Anatomical Context for Atrial Fibrillation, Familial, 10

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

42
Heart

Publications for Atrial Fibrillation, Familial, 10

Articles related to Atrial Fibrillation, Familial, 10:

# Title Authors Year
1
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. ( 18378609 )
2008
2
Cardiac sodium channel mutation in atrial fibrillation. ( 18088563 )
2008
3
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. ( 16684018 )
2006
4
Letter regarding article by McNair et al, "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia". ( 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. ( 15579534 )
2004
6
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. ( 15466643 )
2004
7
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. ( 12522116 )
2003
8
Familial automaticity-conduction disorder with associated cardiomyopathy. ( 3953067 )
1986

Variations for Atrial Fibrillation, Familial, 10

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

76 (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

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

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh37 Chromosome 3, 38622493: 38622493
2 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh38 Chromosome 3, 38581002: 38581002
3 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
4 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
5 SCN5A NM_000335.4(SCN5A): c.5958C> A (p.Asn1986Lys) single nucleotide variant Uncertain significance rs199473335 GRCh37 Chromosome 3, 38591902: 38591902
6 SCN5A NM_000335.4(SCN5A): c.5958C> A (p.Asn1986Lys) single nucleotide variant Uncertain significance rs199473335 GRCh38 Chromosome 3, 38550411: 38550411
7 SCN5A NM_198056.2(SCN5A): c.1333C> G (p.His445Asp) single nucleotide variant Uncertain significance rs199473112 GRCh37 Chromosome 3, 38647447: 38647447
8 SCN5A NM_198056.2(SCN5A): c.1333C> G (p.His445Asp) single nucleotide variant Uncertain significance rs199473112 GRCh38 Chromosome 3, 38605956: 38605956
9 SCN5A NM_000335.4(SCN5A): c.1410C> G (p.Asn470Lys) single nucleotide variant Pathogenic rs199473115 GRCh37 Chromosome 3, 38646328: 38646328
10 SCN5A NM_000335.4(SCN5A): c.1410C> G (p.Asn470Lys) single nucleotide variant Pathogenic rs199473115 GRCh38 Chromosome 3, 38604837: 38604837
11 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
12 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
13 SCN5A NM_198056.2(SCN5A): c.1963G> A (p.Glu655Lys) single nucleotide variant Likely pathogenic rs199473579 GRCh37 Chromosome 3, 38640469: 38640469
14 SCN5A NM_198056.2(SCN5A): c.1963G> A (p.Glu655Lys) single nucleotide variant Likely pathogenic rs199473579 GRCh38 Chromosome 3, 38598978: 38598978
15 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
16 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
17 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
18 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
19 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
20 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
21 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh37 Chromosome 3, 38622532: 38622532
22 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh38 Chromosome 3, 38581041: 38581041
23 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh37 Chromosome 3, 38616898: 38616898
24 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh38 Chromosome 3, 38575407: 38575407
25 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh37 Chromosome 3, 38595797: 38595797
26 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh38 Chromosome 3, 38554306: 38554306
27 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh37 Chromosome 3, 38592174: 38592174
28 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh38 Chromosome 3, 38550683: 38550683
29 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh37 Chromosome 3, 38592125: 38592125
30 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh38 Chromosome 3, 38550634: 38550634
31 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh37 Chromosome 3, 38592060: 38592060
32 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh38 Chromosome 3, 38550569: 38550569
33 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh37 Chromosome 3, 38591959: 38591959
34 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh38 Chromosome 3, 38550468: 38550468
35 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh37 Chromosome 3, 38651279: 38651279
36 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh38 Chromosome 3, 38609788: 38609788
37 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh38 Chromosome 3, 38550586: 38550586
38 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh37 Chromosome 3, 38592077: 38592077
39 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh37 Chromosome 3, 38674647: 38674647
40 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh38 Chromosome 3, 38633156: 38633156
41 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh37 Chromosome 3, 38591991: 38591991
42 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh38 Chromosome 3, 38550500: 38550500
43 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh37 Chromosome 3, 38622726: 38622726
44 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh38 Chromosome 3, 38581235: 38581235
45 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh37 Chromosome 3, 38628928: 38628928
46 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh38 Chromosome 3, 38587437: 38587437
47 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh37 Chromosome 3, 38622570: 38622570
48 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh38 Chromosome 3, 38581079: 38581079
49 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38550577: 38550577
50 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38592068: 38592068

Expression for Atrial Fibrillation, Familial, 10

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Pathways for Atrial Fibrillation, Familial, 10

GO Terms for Atrial Fibrillation, Familial, 10

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