ATFB18
MCID: ATR085
MIFTS: 21

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 57 74 29 6
Atfb18 57 74
Fibrillation, Atrial, Familial, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
atrial fibrillation, familial, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D001281

Summaries for Atrial Fibrillation, Familial, 18

UniProtKB/Swiss-Prot : 74 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 paroxysmal atrial fibrillation and bradycardia

More information from OMIM: 617280 PS608583

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 18

Human phenotypes related to Atrial Fibrillation, Familial, 18:

32
# Description HPO Frequency HPO Source Accession
1 paroxysmal atrial fibrillation 32 occasional (7.5%) HP:0004757
2 bradycardia 32 occasional (7.5%) HP:0001662
3 permanent atrial fibrillation 32 occasional (7.5%) HP:0004754
4 palpitations 32 HP:0001962

Symptoms via clinical synopsis from OMIM:

57
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 29 MYL4

Anatomical Context for Atrial Fibrillation, Familial, 18

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

41
Heart

Publications for Atrial Fibrillation, Familial, 18

Articles related to Atrial Fibrillation, Familial, 18:

# Title Authors PMID Year
1
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. 8 71
27066836 2016
2
Large-scale whole-genome sequencing of the Icelandic population. 8
25807286 2015

Variations for Atrial Fibrillation, Familial, 18

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

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYL4 NM_001002841.1(MYL4): c.31G> A (p.Glu11Lys) single nucleotide variant Pathogenic rs886037778 17:45286819-45286819 17:47209453-47209453
2 MYL4 NM_001002841.1(MYL4): c.365A> G (p.His122Arg) single nucleotide variant Uncertain significance 17:45299099-45299099 17:47221733-47221733
3 MYL4 NM_001002841.1(MYL4): c.446C> T (p.Thr149Met) single nucleotide variant Uncertain significance 17:45299180-45299180 17:47221814-47221814
4 MYL4 NM_001002841.1(MYL4): c.488-1G> A single nucleotide variant Uncertain significance 17:45299745-45299745 17:47222379-47222379
5 MYL4 NM_001002841.1(MYL4): c.487+4T> C single nucleotide variant Uncertain significance 17:45299225-45299225 17:47221859-47221859
6 MYL4 NM_001002841.1(MYL4): c.113C> A (p.Ala38Asp) single nucleotide variant Uncertain significance rs780020430 17:45286901-45286901 17:47209535-47209535
7 MYL4 NM_001002841.1(MYL4): c.277G> A (p.Glu93Lys) single nucleotide variant Uncertain significance rs369894969 17:45297383-45297383 17:47220017-47220017
8 MYL4 NM_001002841.1(MYL4): c.487+1G> C single nucleotide variant Uncertain significance rs769405762 17:45299222-45299222 17:47221856-47221856
9 MYL4 NM_001002841.1(MYL4): c.23C> T (p.Pro8Leu) single nucleotide variant Uncertain significance rs957196759 17:45286811-45286811 17:47209445-47209445
10 MYL4 NM_001002841.1(MYL4): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs374127769 17:45299153-45299153 17:47221787-47221787
11 MYL4 NM_001002841.1(MYL4): c.406G> A (p.Val136Met) single nucleotide variant Uncertain significance rs375241929 17:45299140-45299140 17:47221774-47221774
12 MYL4 NM_001002841.1(MYL4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance rs767035280 17:45299152-45299152 17:47221786-47221786
13 MYL4 NM_001002841.1(MYL4): c.522G> A (p.Leu174=) single nucleotide variant Likely benign rs767533462 17:45299780-45299780 17:47222414-47222414
14 MYL4 NM_001002841.1(MYL4): c.167T> C (p.Phe56Ser) single nucleotide variant Likely benign rs144870368 17:45297273-45297273 17:47219907-47219907
15 MYL4 NM_001002841.1(MYL4): c.405C> T (p.Phe135=) single nucleotide variant Likely benign rs150593274 17:45299139-45299139 17:47221773-47221773
16 MYL4 NM_001002841.1(MYL4): c.313+8C> A single nucleotide variant Likely benign rs372826462 17:45297427-45297427 17:47220061-47220061
17 MYL4 NM_001002841.1(MYL4): c.537G> A (p.Glu179=) single nucleotide variant Likely benign rs181540609 17:45299795-45299795 17:47222429-47222429
18 MYL4 NM_001002841.1(MYL4): c.314-4G> A single nucleotide variant Benign rs114024716 17:45299044-45299044 17:47221678-47221678
19 MYL4 NM_001002841.1(MYL4): c.488-5C> T single nucleotide variant Benign rs376118927 17:45299741-45299741 17:47222375-47222375
20 MYL4 NM_001002841.1(MYL4): c.556A> T (p.Asn186Tyr) single nucleotide variant Benign rs16941677 17:45299814-45299814 17:47222448-47222448
21 MYL4 NM_001002841.1(MYL4): c.150C> T (p.Ala50=) single nucleotide variant Benign rs143234546 17:45291179-45291179 17:47213813-47213813
22 MYL4 NM_001002841.1(MYL4): c.488-4G> A single nucleotide variant Benign rs146859926 17:45299742-45299742 17:47222376-47222376

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

74
# Symbol AA change Variation ID SNP ID
1 MYL4 p.Glu11Lys VAR_077959 rs886037778

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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