ATFB1
MCID: ATR026
MIFTS: 21

Atrial Fibrillation, Familial, 1 (ATFB1)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 1

MalaCards integrated aliases for Atrial Fibrillation, Familial, 1:

Name: Atrial Fibrillation, Familial, 1 57 29 13 6 70
Atrial Fibrillation, Autosomal Dominant 57
Atfb1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average age at diagnosis 17.8 years (range 2-35 years)
genetic heterogeneity (see, e.g., atfb3, )


HPO:

31
atrial fibrillation, familial, 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 608583
OMIM Phenotypic Series 57 PS608583
MedGen 41 C1843687
UMLS 70 C1843687

Summaries for Atrial Fibrillation, Familial, 1

OMIM® : 57 Atrial fibrillation (AF) 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). (608583) (Updated 20-May-2021)

MalaCards based summary : Atrial Fibrillation, Familial, 1, also known as atrial fibrillation, autosomal dominant, is related to familial atrial fibrillation and atrial fibrillation, familial, 11. An important gene associated with Atrial Fibrillation, Familial, 1 is ATFB1 (Atrial Fibrillation, Familial 1). Affiliated tissues include heart, and related phenotypes are thromboembolic stroke and stroke

Related Diseases for Atrial Fibrillation, Familial, 1

Graphical network of the top 20 diseases related to Atrial Fibrillation, Familial, 1:



Diseases related to Atrial Fibrillation, Familial, 1

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 1

Human phenotypes related to Atrial Fibrillation, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 thromboembolic stroke 31 frequent (33%) HP:0001727
2 stroke 31 HP:0001297
3 atrial fibrillation 31 HP:0005110
4 tachycardia 31 HP:0001649

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
atrial fibrillation, isolated
rapid heart beat
irregular heart beat
thromboembolic stroke may occur

Clinical features from OMIM®:

608583 (Updated 20-May-2021)

Drugs & Therapeutics for Atrial Fibrillation, Familial, 1

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 1

Genetic Tests for Atrial Fibrillation, Familial, 1

Genetic tests related to Atrial Fibrillation, Familial, 1:

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

Anatomical Context for Atrial Fibrillation, Familial, 1

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 1:

40
Heart

Publications for Atrial Fibrillation, Familial, 1

Articles related to Atrial Fibrillation, Familial, 1:

# Title Authors PMID Year
1
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. 57
24144883 2014
2
Common variants in KCNN3 are associated with lone atrial fibrillation. 57
20173747 2010
3
Molecular genetics of atrial fibrillation. 57
18634977 2008
4
Familial aggregation in lone atrial fibrillation. 57
16133178 2005
5
Identification of a genetic locus for familial atrial fibrillation. 57
9070470 1997

Variations for Atrial Fibrillation, Familial, 1

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PITX2 NM_000325.6(PITX2):c.619A>G (p.Met207Val) SNV Likely pathogenic 559593 rs138163892 GRCh37: 4:111539637-111539637
GRCh38: 4:110618481-110618481

Expression for Atrial Fibrillation, Familial, 1

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 1.

Pathways for Atrial Fibrillation, Familial, 1

GO Terms for Atrial Fibrillation, Familial, 1

Sources for Atrial Fibrillation, Familial, 1

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
41 MedGen
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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