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 56 73 29 6
Atfb18 56 73
Fibrillation, Atrial, Familial, Type 18 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
atrial fibrillation, familial, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 617280
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281

Summaries for Atrial Fibrillation, Familial, 18

UniProtKB/Swiss-Prot : 73 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

More information from OMIM: 617280 PS608583

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 18

Human phenotypes related to Atrial Fibrillation, Familial, 18:

31
# Description HPO Frequency HPO Source Accession
1 bradycardia 31 occasional (7.5%) HP:0001662
2 paroxysmal atrial fibrillation 31 occasional (7.5%) HP:0004757
3 permanent atrial fibrillation 31 occasional (7.5%) HP:0004754
4 palpitations 31 HP:0001962

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
27066836 2016
2
Large-scale whole-genome sequencing of the Icelandic population. 56
25807286 2015

Variations for Atrial Fibrillation, Familial, 18

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

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYL4 NM_002476.2(MYL4):c.31G>A (p.Glu11Lys)SNV Pathogenic 224067 rs886037778 17:45286819-45286819 17:47209453-47209453
2 MYL4 NM_002476.2(MYL4):c.277G>A (p.Glu93Lys)SNV Uncertain significance 476201 rs369894969 17:45297383-45297383 17:47220017-47220017
3 MYL4 NM_002476.2(MYL4):c.487+1G>CSNV Uncertain significance 476205 rs769405762 17:45299222-45299222 17:47221856-47221856
4 MYL4 NM_002476.2(MYL4):c.23C>T (p.Pro8Leu)SNV Uncertain significance 476200 rs957196759 17:45286811-45286811 17:47209445-47209445
5 MYL4 NM_002476.2(MYL4):c.419G>A (p.Arg140His)SNV Uncertain significance 476204 rs374127769 17:45299153-45299153 17:47221787-47221787
6 MYL4 NM_002476.2(MYL4):c.406G>A (p.Val136Met)SNV Uncertain significance 542790 rs375241929 17:45299140-45299140 17:47221774-47221774
7 MYL4 NM_002476.2(MYL4):c.418C>T (p.Arg140Cys)SNV Uncertain significance 542788 rs767035280 17:45299152-45299152 17:47221786-47221786
8 MYL4 NM_002476.2(MYL4):c.365A>G (p.His122Arg)SNV Uncertain significance 572152 rs376695433 17:45299099-45299099 17:47221733-47221733
9 MYL4 NM_002476.2(MYL4):c.446C>T (p.Thr149Met)SNV Uncertain significance 665264 17:45299180-45299180 17:47221814-47221814
10 MYL4 NM_002476.2(MYL4):c.488-1G>ASNV Uncertain significance 648701 17:45299745-45299745 17:47222379-47222379
11 MYL4 NM_002476.2(MYL4):c.487+4T>CSNV Uncertain significance 666089 17:45299225-45299225 17:47221859-47221859
12 MYL4 NM_002476.2(MYL4):c.113C>A (p.Ala38Asp)SNV Uncertain significance 542789 rs780020430 17:45286901-45286901 17:47209535-47209535
13 MYL4 NM_002476.2(MYL4):c.313+8C>ASNV Likely benign 542791 rs372826462 17:45297427-45297427 17:47220061-47220061
14 MYL4 NM_002476.2(MYL4):c.537G>A (p.Glu179=)SNV Likely benign 476209 rs181540609 17:45299795-45299795 17:47222429-47222429
15 MYL4 NM_002476.2(MYL4):c.522G>A (p.Leu174=)SNV Likely benign 476208 rs767533462 17:45299780-45299780 17:47222414-47222414

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

73
# 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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