ATFB4
MCID: ATR039
MIFTS: 21

Atrial Fibrillation, Familial, 4 (ATFB4)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 4

MalaCards integrated aliases for Atrial Fibrillation, Familial, 4:

Name: Atrial Fibrillation, Familial, 4 57 72 29 13 6 70
Atfb4 57 72
Fibrillation, Atrial, Familial, Type 4 39

Characteristics:

HPO:

31
atrial fibrillation, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 611493
OMIM Phenotypic Series 57 PS608583
MeSH 44 D001281
MedGen 41 C1862394
UMLS 70 C1862394

Summaries for Atrial Fibrillation, Familial, 4

OMIM® : 57 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. (611493) (Updated 20-May-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 4, is also known as atfb4. An important gene associated with Atrial Fibrillation, Familial, 4 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2). Related phenotypes are paroxysmal atrial fibrillation and palpitations

UniProtKB/Swiss-Prot : 72 Atrial fibrillation, familial, 4: 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, 4

Human phenotypes related to Atrial Fibrillation, Familial, 4:

31
# Description HPO Frequency HPO Source Accession
1 paroxysmal atrial fibrillation 31 very rare (1%) HP:0004757
2 palpitations 31 very rare (1%) HP:0001962
3 premature atrial contractions 31 very rare (1%) HP:0006699
4 permanent atrial fibrillation 31 very rare (1%) HP:0004754

Clinical features from OMIM®:

611493 (Updated 20-May-2021)

Drugs & Therapeutics for Atrial Fibrillation, Familial, 4

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 4

Genetic Tests for Atrial Fibrillation, Familial, 4

Genetic tests related to Atrial Fibrillation, Familial, 4:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 4 29 KCNE2

Anatomical Context for Atrial Fibrillation, Familial, 4

Publications for Atrial Fibrillation, Familial, 4

Articles related to Atrial Fibrillation, Familial, 4:

# Title Authors PMID Year
1
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 6 57
15368194 2004
2
KCNE2 modulates cardiac L-type Ca(2+) channel. 6
24681347 2014
3
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 4

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 4:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) SNV Likely pathogenic 6055 rs74315449 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557
2 KCNE2 NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) SNV Uncertain significance 895204 GRCh37: 21:35742794-35742794
GRCh38: 21:34370495-34370495
3 KCNE2 NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) SNV Uncertain significance 898248 GRCh37: 21:35742955-35742955
GRCh38: 21:34370656-34370656
4 KCNE2 NM_172201.1(KCNE2):c.354G>A (p.Gly118=) SNV Uncertain significance 190792 rs187917779 GRCh37: 21:35743131-35743131
GRCh38: 21:34370832-34370832
5 KCNE2 NM_172201.2(KCNE2):c.*11A>C SNV Uncertain significance 898249 GRCh37: 21:35743160-35743160
GRCh38: 21:34370861-34370861
6 KCNE2 NM_172201.2(KCNE2):c.*61C>T SNV Uncertain significance 898250 GRCh37: 21:35743210-35743210
GRCh38: 21:34370911-34370911
7 KCNE2 NM_172201.2(KCNE2):c.*234G>A SNV Uncertain significance 899357 GRCh37: 21:35743383-35743383
GRCh38: 21:34371084-34371084
8 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) SNV Uncertain significance 6055 rs74315449 GRCh37: 21:35742856-35742856
GRCh38: 21:34370557-34370557
9 KCNE2 NM_172201.1(KCNE2):c.-80C>T SNV Uncertain significance 339715 rs566735365 GRCh37: 21:35736383-35736383
GRCh38: 21:34364084-34364084
10 KCNE2 NM_172201.1(KCNE2):c.-13+5G>A SNV Uncertain significance 190793 rs786205806 GRCh37: 21:35736455-35736455
GRCh38: 21:34364156-34364156
11 KCNE2 NM_172201.1(KCNE2):c.-85G>A SNV Uncertain significance 339714 rs41315511 GRCh37: 21:35736378-35736378
GRCh38: 21:34364079-34364079
12 KCNE2 NM_172201.1(KCNE2):c.*62G>A SNV Uncertain significance 339719 rs72550218 GRCh37: 21:35743211-35743211
GRCh38: 21:34370912-34370912
13 KCNE2 NM_172201.1(KCNE2):c.*240G>C SNV Uncertain significance 339720 rs773295544 GRCh37: 21:35743389-35743389
GRCh38: 21:34371090-34371090
14 KCNE2 NM_172201.1(KCNE2):c.153G>T (p.Leu51=) SNV Uncertain significance 339718 rs143767851 GRCh37: 21:35742930-35742930
GRCh38: 21:34370631-34370631
15 KCNE2 NM_172201.1(KCNE2):c.-52G>A SNV Likely benign 339717 rs41314699 GRCh37: 21:35736411-35736411
GRCh38: 21:34364112-34364112
16 KCNE2 NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) SNV Likely benign 6054 rs74315448 GRCh37: 21:35742947-35742947
GRCh38: 21:34370648-34370648
17 KCNE2 NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) SNV Benign 6052 rs16991652 GRCh37: 21:35742802-35742802
GRCh38: 21:34370503-34370503
18 KCNE2 NM_172201.1(KCNE2):c.-79G>A SNV Benign 339716 rs41260744 GRCh37: 21:35736384-35736384
GRCh38: 21:34364085-34364085

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 4:

72
# Symbol AA change Variation ID SNP ID
1 KCNE2 p.Arg27Cys VAR_037795 rs74315449

Expression for Atrial Fibrillation, Familial, 4

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 4.

Pathways for Atrial Fibrillation, Familial, 4

GO Terms for Atrial Fibrillation, Familial, 4

Sources for Atrial Fibrillation, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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