ATFB4
MCID: ATR039
MIFTS: 21

Atrial Fibrillation, Familial, 4 (ATFB4)

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 56 73 29 13 6 71
Atfb4 56 73
Fibrillation, Atrial, Familial, Type 4 39

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 56 611493
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
MedGen 41 C1862394
UMLS 71 C1862394

Summaries for Atrial Fibrillation, Familial, 4

OMIM : 56 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)

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). Affiliated tissues include heart, and related phenotypes are paroxysmal atrial fibrillation and palpitations

UniProtKB/Swiss-Prot : 73 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

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

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 4:

40
Heart

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 56
15368194 2004
2
KCNE2 modulates cardiac L-type Ca(2+) channel. 6
24681347 2014
3
Identification of a genetic locus for familial atrial fibrillation. 56
9070470 1997

Variations for Atrial Fibrillation, Familial, 4

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

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNE2 NM_172201.1(KCNE2):c.354G>A (p.Gly118=)SNV Conflicting interpretations of pathogenicity 190792 rs187917779 21:35743131-35743131 21:34370832-34370832
2 KCNE2 NM_172201.1(KCNE2):c.-85G>ASNV Conflicting interpretations of pathogenicity 339714 rs41315511 21:35736378-35736378 21:34364079-34364079
3 KCNE2 NM_172201.1(KCNE2):c.-52G>ASNV Conflicting interpretations of pathogenicity 339717 rs41314699 21:35736411-35736411 21:34364112-34364112
4 KCNE2 NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr)SNV Conflicting interpretations of pathogenicity 6054 rs74315448 21:35742947-35742947 21:34370648-34370648
5 KCNE2 NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys)SNV Conflicting interpretations of pathogenicity 6055 rs74315449 21:35742856-35742856 21:34370557-34370557
6 KCNE2 NM_172201.1(KCNE2):c.-13+5G>ASNV Uncertain significance 190793 rs786205806 21:35736455-35736455 21:34364156-34364156
7 KCNE2 NM_172201.1(KCNE2):c.153G>T (p.Leu51=)SNV Uncertain significance 339718 rs143767851 21:35742930-35742930 21:34370631-34370631
8 KCNE2 NM_172201.1(KCNE2):c.*62G>ASNV Uncertain significance 339719 rs72550218 21:35743211-35743211 21:34370912-34370912
9 KCNE2 NM_172201.1(KCNE2):c.*240G>CSNV Uncertain significance 339720 rs773295544 21:35743389-35743389 21:34371090-34371090
10 KCNE2 NM_172201.1(KCNE2):c.-80C>TSNV Uncertain significance 339715 rs566735365 21:35736383-35736383 21:34364084-34364084
11 KCNE2 NC_000021.9:g.34370495A>GSNV Uncertain significance 895204 21:35742794-35742794 21:34370495-34370495
12 KCNE2 NC_000021.9:g.34370656T>ASNV Uncertain significance 898248 21:35742955-35742955 21:34370656-34370656
13 KCNE2 NC_000021.9:g.34370861A>CSNV Uncertain significance 898249 21:35743160-35743160 21:34370861-34370861
14 KCNE2 NC_000021.9:g.34370911C>TSNV Uncertain significance 898250 21:35743210-35743210 21:34370911-34370911
15 KCNE2 NC_000021.9:g.34371084G>ASNV Uncertain significance 899357 21:35743383-35743383 21:34371084-34371084
16 KCNE2 NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu)SNV Benign/Likely benign 6052 rs16991652 21:35742802-35742802 21:34370503-34370503
17 KCNE2 NM_172201.1(KCNE2):c.-79G>ASNV Benign/Likely benign 339716 rs41260744 21:35736384-35736384 21:34364085-34364085

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

73
# 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

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