ATFB1
MCID: ATR026
MIFTS: 21

Atrial Fibrillation, Familial, 1 (ATFB1)

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 58 30 13 6 74
Atrial Fibrillation, Autosomal Dominant 58
Atfb1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
atrial fibrillation, familial, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608583
MedGen 43 C1843687
UMLS 74 C1843687

Summaries for Atrial Fibrillation, Familial, 1

OMIM : 58 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)

MalaCards based summary : Atrial Fibrillation, Familial, 1, also known as atrial fibrillation, autosomal dominant, is related to familial atrial fibrillation and atrial fibrillation. 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:

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

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation, isolated
rapid heart beat
irregular heart beat
thromboembolic stroke may occur

Clinical features from OMIM:

608583

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 30

Anatomical Context for Atrial Fibrillation, Familial, 1

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

42
Heart

Publications for Atrial Fibrillation, Familial, 1

Variations for Atrial Fibrillation, Familial, 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX2 NM_000325.5(PITX2): c.619A> G (p.Met207Val) single nucleotide variant Likely pathogenic rs138163892 GRCh38 Chromosome 4, 110618481: 110618481
2 PITX2 NM_000325.5(PITX2): c.619A> G (p.Met207Val) single nucleotide variant Likely pathogenic rs138163892 GRCh37 Chromosome 4, 111539637: 111539637

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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