ATFB4
MCID: ATR039
MIFTS: 20

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 57 75 29 13 6 73
Atfb4 57 75
Fibrillation, Atrial, Familial, Type 4 40

Characteristics:

HPO:

32
atrial fibrillation, familial, 4:
Inheritance autosomal dominant inheritance


Classifications:



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)

MalaCards based summary : Atrial Fibrillation, Familial, 4, also known as atfb4, is related to long qt syndrome 6 and familial atrial fibrillation. 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 palpitations and paroxysmal atrial fibrillation

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Atrial Fibrillation, Familial, 4

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 4

Clinical features from OMIM:

611493

Human phenotypes related to Atrial Fibrillation, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 palpitations 32 very rare (1%) HP:0001962
2 paroxysmal atrial fibrillation 32 very rare (1%) HP:0004757
3 premature atrial contractions 32 very rare (1%) HP:0006699
4 permanent atrial fibrillation 32 very rare (1%) HP:0004754

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:

41
Heart

Publications for Atrial Fibrillation, Familial, 4

Variations for Atrial Fibrillation, Familial, 4

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

75
# Symbol AA change Variation ID SNP ID
1 KCNE2 p.Arg27Cys VAR_037795 rs74315449

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNE2 NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315449 GRCh37 Chromosome 21, 35742856: 35742856
2 KCNE2 NM_172201.1(KCNE2): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315449 GRCh38 Chromosome 21, 34370557: 34370557

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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