ATFB18
MCID: ATR085
MIFTS: 18

Atrial Fibrillation, Familial, 18 (ATFB18)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 18

MalaCards integrated aliases for Atrial Fibrillation, Familial, 18:

Name: Atrial Fibrillation, Familial, 18 58 76 30 6
Atfb18 58 76
Fibrillation, Atrial, Familial, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated december 2016)


HPO:

33
atrial fibrillation, familial, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617280
MeSH 45 D001281

Summaries for Atrial Fibrillation, Familial, 18

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 18: 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.

MalaCards based summary : Atrial Fibrillation, Familial, 18, is also known as atfb18. An important gene associated with Atrial Fibrillation, Familial, 18 is MYL4 (Myosin Light Chain 4). Affiliated tissues include heart, and related phenotypes are bradycardia and paroxysmal atrial fibrillation

Description from OMIM: 617280

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 18

Human phenotypes related to Atrial Fibrillation, Familial, 18:

33
# Description HPO Frequency HPO Source Accession
1 bradycardia 33 occasional (7.5%) HP:0001662
2 paroxysmal atrial fibrillation 33 occasional (7.5%) HP:0004757
3 permanent atrial fibrillation 33 occasional (7.5%) HP:0004754
4 palpitations 33 HP:0001962

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
palpitations
bradycardia (in some patients)
paroxysmal atrial fibrillation (in some patients)
permanent atrial fibrillation (in some patients)
slow ventricular rate response
more

Clinical features from OMIM:

617280

Drugs & Therapeutics for Atrial Fibrillation, Familial, 18

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 18

Genetic Tests for Atrial Fibrillation, Familial, 18

Genetic tests related to Atrial Fibrillation, Familial, 18:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 18 30 MYL4

Anatomical Context for Atrial Fibrillation, Familial, 18

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 18:

42
Heart

Publications for Atrial Fibrillation, Familial, 18

Articles related to Atrial Fibrillation, Familial, 18:

# Title Authors Year
1
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. ( 27066836 )
2016

Variations for Atrial Fibrillation, Familial, 18

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 18:

76
# Symbol AA change Variation ID SNP ID
1 MYL4 p.Glu11Lys VAR_077959 rs886037778

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 18:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh37 Chromosome 17, 45286819: 45286819
2 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 GRCh38 Chromosome 17, 47209453: 47209453
3 MYL4 NM_001002841.1(MYL4): c.277G> A (p.Glu93Lys) single nucleotide variant Uncertain significance rs369894969 GRCh37 Chromosome 17, 45297383: 45297383
4 MYL4 NM_001002841.1(MYL4): c.277G> A (p.Glu93Lys) single nucleotide variant Uncertain significance rs369894969 GRCh38 Chromosome 17, 47220017: 47220017
5 MYL4 NM_001002841.1(MYL4): c.487+1G> C single nucleotide variant Uncertain significance rs769405762 GRCh37 Chromosome 17, 45299222: 45299222
6 MYL4 NM_001002841.1(MYL4): c.487+1G> C single nucleotide variant Uncertain significance rs769405762 GRCh38 Chromosome 17, 47221856: 47221856
7 MYL4 NM_001002841.1(MYL4): c.488-4G> A single nucleotide variant Benign rs146859926 GRCh38 Chromosome 17, 47222376: 47222376
8 MYL4 NM_001002841.1(MYL4): c.488-4G> A single nucleotide variant Benign rs146859926 GRCh37 Chromosome 17, 45299742: 45299742
9 MYL4 NM_001002841.1(MYL4): c.23C> T (p.Pro8Leu) single nucleotide variant Uncertain significance rs957196759 GRCh38 Chromosome 17, 47209445: 47209445
10 MYL4 NM_001002841.1(MYL4): c.23C> T (p.Pro8Leu) single nucleotide variant Uncertain significance rs957196759 GRCh37 Chromosome 17, 45286811: 45286811
11 MYL4 NM_001002841.1(MYL4): c.150C> T (p.Ala50=) single nucleotide variant Benign rs143234546 GRCh37 Chromosome 17, 45291179: 45291179
12 MYL4 NM_001002841.1(MYL4): c.150C> T (p.Ala50=) single nucleotide variant Benign rs143234546 GRCh38 Chromosome 17, 47213813: 47213813
13 MYL4 NM_001002841.1(MYL4): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs374127769 GRCh38 Chromosome 17, 47221787: 47221787
14 MYL4 NM_001002841.1(MYL4): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs374127769 GRCh37 Chromosome 17, 45299153: 45299153
15 MYL4 NM_001002841.1(MYL4): c.556A> T (p.Asn186Tyr) single nucleotide variant Benign rs16941677 GRCh38 Chromosome 17, 47222448: 47222448
16 MYL4 NM_001002841.1(MYL4): c.556A> T (p.Asn186Tyr) single nucleotide variant Benign rs16941677 GRCh37 Chromosome 17, 45299814: 45299814
17 MYL4 NM_001002841.1(MYL4): c.167T> C (p.Phe56Ser) single nucleotide variant Likely benign rs144870368 GRCh38 Chromosome 17, 47219907: 47219907
18 MYL4 NM_001002841.1(MYL4): c.167T> C (p.Phe56Ser) single nucleotide variant Likely benign rs144870368 GRCh37 Chromosome 17, 45297273: 45297273
19 MYL4 NM_001002841.1(MYL4): c.405C> T (p.Phe135=) single nucleotide variant Likely benign rs150593274 GRCh38 Chromosome 17, 47221773: 47221773
20 MYL4 NM_001002841.1(MYL4): c.405C> T (p.Phe135=) single nucleotide variant Likely benign rs150593274 GRCh37 Chromosome 17, 45299139: 45299139
21 MYL4 NM_001002841.1(MYL4): c.488-5C> T single nucleotide variant Benign rs376118927 GRCh37 Chromosome 17, 45299741: 45299741
22 MYL4 NM_001002841.1(MYL4): c.488-5C> T single nucleotide variant Benign rs376118927 GRCh38 Chromosome 17, 47222375: 47222375
23 MYL4 NM_001002841.1(MYL4): c.537G> A (p.Glu179=) single nucleotide variant Likely benign rs181540609 GRCh37 Chromosome 17, 45299795: 45299795
24 MYL4 NM_001002841.1(MYL4): c.537G> A (p.Glu179=) single nucleotide variant Likely benign rs181540609 GRCh38 Chromosome 17, 47222429: 47222429
25 MYL4 NM_001002841.1(MYL4): c.314-4G> A single nucleotide variant Benign rs114024716 GRCh38 Chromosome 17, 47221678: 47221678
26 MYL4 NM_001002841.1(MYL4): c.314-4G> A single nucleotide variant Benign rs114024716 GRCh37 Chromosome 17, 45299044: 45299044
27 MYL4 NM_001002841.1(MYL4): c.522G> A (p.Leu174=) single nucleotide variant Likely benign rs767533462 GRCh37 Chromosome 17, 45299780: 45299780
28 MYL4 NM_001002841.1(MYL4): c.522G> A (p.Leu174=) single nucleotide variant Likely benign rs767533462 GRCh38 Chromosome 17, 47222414: 47222414
29 MYL4 NM_001002841.1(MYL4): c.113C> A (p.Ala38Asp) single nucleotide variant Uncertain significance rs780020430 GRCh38 Chromosome 17, 47209535: 47209535
30 MYL4 NM_001002841.1(MYL4): c.113C> A (p.Ala38Asp) single nucleotide variant Uncertain significance rs780020430 GRCh37 Chromosome 17, 45286901: 45286901
31 MYL4 NM_001002841.1(MYL4): c.313+8C> A single nucleotide variant Likely benign rs372826462 GRCh38 Chromosome 17, 47220061: 47220061
32 MYL4 NM_001002841.1(MYL4): c.313+8C> A single nucleotide variant Likely benign rs372826462 GRCh37 Chromosome 17, 45297427: 45297427
33 MYL4 NM_001002841.1(MYL4): c.406G> A (p.Val136Met) single nucleotide variant Uncertain significance rs375241929 GRCh38 Chromosome 17, 47221774: 47221774
34 MYL4 NM_001002841.1(MYL4): c.406G> A (p.Val136Met) single nucleotide variant Uncertain significance rs375241929 GRCh37 Chromosome 17, 45299140: 45299140
35 MYL4 NM_001002841.1(MYL4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance rs767035280 GRCh38 Chromosome 17, 47221786: 47221786
36 MYL4 NM_001002841.1(MYL4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance rs767035280 GRCh37 Chromosome 17, 45299152: 45299152
37 MYL4 NM_001002841.1(MYL4): c.365A> G (p.His122Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 47221733: 47221733
38 MYL4 NM_001002841.1(MYL4): c.365A> G (p.His122Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 45299099: 45299099

Expression for Atrial Fibrillation, Familial, 18

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 18.

Pathways for Atrial Fibrillation, Familial, 18

GO Terms for Atrial Fibrillation, Familial, 18

Sources for Atrial Fibrillation, Familial, 18

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