ATFB9
MCID: ATR070
MIFTS: 16

Atrial Fibrillation, Familial, 9 (ATFB9)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 9

MalaCards integrated aliases for Atrial Fibrillation, Familial, 9:

Name: Atrial Fibrillation, Familial, 9 58 76 30 13 6 74
Atfb9 58 76
Fibrillation, Atrial, Familial, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial fibrillation, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613980
MeSH 45 D001281
MedGen 43 C3151431
SNOMED-CT via HPO 70 263681008 282825002
UMLS 74 C3151431

Summaries for Atrial Fibrillation, Familial, 9

OMIM : 58 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. (613980)

MalaCards based summary : Atrial Fibrillation, Familial, 9, is also known as atfb9. An important gene associated with Atrial Fibrillation, Familial, 9 is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2). Affiliated tissues include heart, and related phenotype is paroxysmal atrial fibrillation.

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 9: 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, 9

Human phenotypes related to Atrial Fibrillation, Familial, 9:

33
# Description HPO Frequency HPO Source Accession
1 paroxysmal atrial fibrillation 33 HP:0004757

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial fibrillation, paroxysmal
atrial fibrillation, persistent (in some patients)

Clinical features from OMIM:

613980

Drugs & Therapeutics for Atrial Fibrillation, Familial, 9

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 9

Genetic Tests for Atrial Fibrillation, Familial, 9

Genetic tests related to Atrial Fibrillation, Familial, 9:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 9 30 KCNJ2

Anatomical Context for Atrial Fibrillation, Familial, 9

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 9:

42
Heart

Publications for Atrial Fibrillation, Familial, 9

Articles related to Atrial Fibrillation, Familial, 9:

# Title Authors Year
1
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. ( 15922306 )
2005

Variations for Atrial Fibrillation, Familial, 9

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 9:

76
# Symbol AA change Variation ID SNP ID
1 KCNJ2 p.Val93Ile VAR_065863 rs147750704

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh37 Chromosome 17, 68171379: 68171379
2 KCNJ2 NM_000891.2(KCNJ2): c.199C> T (p.Arg67Trp) single nucleotide variant Pathogenic rs104894580 GRCh38 Chromosome 17, 70175238: 70175238
3 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh37 Chromosome 17, 68171457: 68171457
4 KCNJ2 NM_000891.2(KCNJ2): c.277G> A (p.Val93Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147750704 GRCh38 Chromosome 17, 70175316: 70175316

Expression for Atrial Fibrillation, Familial, 9

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 9.

Pathways for Atrial Fibrillation, Familial, 9

GO Terms for Atrial Fibrillation, Familial, 9

Sources for Atrial Fibrillation, Familial, 9

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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