MCID: ATR085
MIFTS: 17

Atrial Fibrillation, Familial, 18

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 18

MalaCards integrated aliases for Atrial Fibrillation, Familial, 18:

Name: Atrial Fibrillation, Familial, 18 57 75 29 6
Atfb18 57 75
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:

OMIM 57 617280
MeSH 44 D001281

Summaries for Atrial Fibrillation, Familial, 18

UniProtKB/Swiss-Prot : 75 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 palpitations

Description from OMIM: 617280

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 18

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
palpitations
paroxysmal atrial fibrillation (in some patients)
permanent atrial fibrillation (in some patients)
slow ventricular rate response
bradycardia (in some patients)
more

Clinical features from OMIM:

617280

Human phenotypes related to Atrial Fibrillation, Familial, 18:

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

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

Variations for Atrial Fibrillation, Familial, 18

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

75
# 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 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL4 MYL4, GLU11LYS undetermined variant Pathogenic
2 MYL4 NM_001002841.1(MYL4): c.277G> A (p.Glu93Lys) single nucleotide variant Uncertain significance rs369894969 GRCh37 Chromosome 17, 45297383: 45297383
3 MYL4 NM_001002841.1(MYL4): c.277G> A (p.Glu93Lys) single nucleotide variant Uncertain significance rs369894969 GRCh38 Chromosome 17, 47220017: 47220017
4 MYL4 NM_001002841.1(MYL4): c.487+1G> C single nucleotide variant Uncertain significance rs769405762 GRCh37 Chromosome 17, 45299222: 45299222
5 MYL4 NM_001002841.1(MYL4): c.487+1G> C single nucleotide variant Uncertain significance rs769405762 GRCh38 Chromosome 17, 47221856: 47221856
6 MYL4 NM_001002841.1(MYL4): c.488-4G> A single nucleotide variant Benign rs146859926 GRCh38 Chromosome 17, 47222376: 47222376
7 MYL4 NM_001002841.1(MYL4): c.488-4G> A single nucleotide variant Benign rs146859926 GRCh37 Chromosome 17, 45299742: 45299742
8 MYL4 NM_001002841.1(MYL4): c.23C> T (p.Pro8Leu) single nucleotide variant Uncertain significance rs957196759 GRCh38 Chromosome 17, 47209445: 47209445
9 MYL4 NM_001002841.1(MYL4): c.23C> T (p.Pro8Leu) single nucleotide variant Uncertain significance rs957196759 GRCh37 Chromosome 17, 45286811: 45286811
10 MYL4 NM_001002841.1(MYL4): c.150C> T (p.Ala50=) single nucleotide variant Benign rs143234546 GRCh37 Chromosome 17, 45291179: 45291179
11 MYL4 NM_001002841.1(MYL4): c.150C> T (p.Ala50=) single nucleotide variant Benign rs143234546 GRCh38 Chromosome 17, 47213813: 47213813
12 MYL4 NM_001002841.1(MYL4): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs374127769 GRCh37 Chromosome 17, 45299153: 45299153
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.556A> T (p.Asn186Tyr) single nucleotide variant Benign rs16941677 GRCh37 Chromosome 17, 45299814: 45299814
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.167T> C (p.Phe56Ser) single nucleotide variant Likely benign rs144870368 GRCh38 Chromosome 17, 47219907: 47219907
17 MYL4 NM_001002841.1(MYL4): c.167T> C (p.Phe56Ser) single nucleotide variant Likely benign rs144870368 GRCh37 Chromosome 17, 45297273: 45297273
18 MYL4 NM_001002841.1(MYL4): c.405C> T (p.Phe135=) single nucleotide variant Likely benign rs150593274 GRCh38 Chromosome 17, 47221773: 47221773
19 MYL4 NM_001002841.1(MYL4): c.405C> T (p.Phe135=) single nucleotide variant Likely benign rs150593274 GRCh37 Chromosome 17, 45299139: 45299139
20 MYL4 NM_001002841.1(MYL4): c.488-5C> T single nucleotide variant Benign rs376118927 GRCh38 Chromosome 17, 47222375: 47222375
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.537G> A (p.Glu179=) single nucleotide variant Likely benign rs181540609 GRCh37 Chromosome 17, 45299795: 45299795
23 MYL4 NM_001002841.1(MYL4): c.537G> A (p.Glu179=) single nucleotide variant Likely benign rs181540609 GRCh38 Chromosome 17, 47222429: 47222429
24 MYL4 NM_001002841.1(MYL4): c.314-4G> A single nucleotide variant Benign rs114024716 GRCh37 Chromosome 17, 45299044: 45299044
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.522G> A (p.Leu174=) single nucleotide variant Likely benign rs767533462 GRCh37 Chromosome 17, 45299780: 45299780
27 MYL4 NM_001002841.1(MYL4): c.522G> A (p.Leu174=) single nucleotide variant Likely benign rs767533462 GRCh38 Chromosome 17, 47222414: 47222414
28 MYL4 NM_001002841.1(MYL4): c.113C> A (p.Ala38Asp) single nucleotide variant Uncertain significance rs780020430 GRCh38 Chromosome 17, 47209535: 47209535
29 MYL4 NM_001002841.1(MYL4): c.113C> A (p.Ala38Asp) single nucleotide variant Uncertain significance rs780020430 GRCh37 Chromosome 17, 45286901: 45286901
30 MYL4 NM_001002841.1(MYL4): c.313+8C> A single nucleotide variant Likely benign rs372826462 GRCh38 Chromosome 17, 47220061: 47220061
31 MYL4 NM_001002841.1(MYL4): c.313+8C> A single nucleotide variant Likely benign rs372826462 GRCh37 Chromosome 17, 45297427: 45297427
32 MYL4 NM_001002841.1(MYL4): c.406G> A (p.Val136Met) single nucleotide variant Uncertain significance rs375241929 GRCh38 Chromosome 17, 47221774: 47221774
33 MYL4 NM_001002841.1(MYL4): c.406G> A (p.Val136Met) single nucleotide variant Uncertain significance rs375241929 GRCh37 Chromosome 17, 45299140: 45299140
34 MYL4 NM_001002841.1(MYL4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance rs767035280 GRCh38 Chromosome 17, 47221786: 47221786
35 MYL4 NM_001002841.1(MYL4): c.418C> T (p.Arg140Cys) single nucleotide variant Uncertain significance rs767035280 GRCh37 Chromosome 17, 45299152: 45299152

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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