MCID: ATR037
MIFTS: 17

Atrial Fibrillation, Familial, 7

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Atrial Fibrillation, Familial, 7

MalaCards integrated aliases for Atrial Fibrillation, Familial, 7:

Name: Atrial Fibrillation, Familial, 7 53 71 28 13 69
Atfb7 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
risk of thromboembolic stroke


HPO:

31
atrial fibrillation, familial, 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 612240
MedGen 39 C2677106
MeSH 41 D001281
UMLS 69 C2677106

Summaries for Atrial Fibrillation, Familial, 7

OMIM : 53 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). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. (612240)

MalaCards based summary : Atrial Fibrillation, Familial, 7, is also known as atfb7, and has symptoms including palpitations, paroxysmal atrial fibrillation and prolonged qtc interval. An important gene associated with Atrial Fibrillation, Familial, 7 is KCNA5 (Potassium Voltage-Gated Channel Subfamily A Member 5). Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 Atrial fibrillation, familial, 7: 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, 7

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
palpitations
atrial fibrillation, paroxysmal or persistent
prolonged pr interval (in some patients)
incomplete right bundle branch block (in some patients)
prolonged qtc interval (in some patients)


Clinical features from OMIM:

612240

Human phenotypes related to Atrial Fibrillation, Familial, 7:

31
# Description HPO Frequency HPO Source Accession
1 palpitations 31 HP:0001962
2 paroxysmal atrial fibrillation 31 HP:0004757
3 prolonged qtc interval 31 occasional (7.5%) HP:0005184
4 prolonged pr interval 31 occasional (7.5%) HP:0012248

Drugs & Therapeutics for Atrial Fibrillation, Familial, 7

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 7

Genetic Tests for Atrial Fibrillation, Familial, 7

Genetic tests related to Atrial Fibrillation, Familial, 7:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 7 28 KCNA5

Anatomical Context for Atrial Fibrillation, Familial, 7

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 7:

38
Heart

Publications for Atrial Fibrillation, Familial, 7

Variations for Atrial Fibrillation, Familial, 7

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA5 NM_002234.3(KCNA5): c.1123G> T (p.Glu375Ter) single nucleotide variant Pathogenic rs121908590 GRCh37 Chromosome 12, 5154436: 5154436
2 KCNA5 NM_002234.3(KCNA5): c.1727C> T (p.Ala576Val) single nucleotide variant Pathogenic rs121908592 GRCh37 Chromosome 12, 5155040: 5155040
3 KCNA5 NM_002234.3(KCNA5): c.1828G> A (p.Glu610Lys) single nucleotide variant Pathogenic rs121908593 GRCh37 Chromosome 12, 5155141: 5155141
4 KCNA5 NM_002234.3(KCNA5): c.143A> G (p.Glu48Gly) single nucleotide variant Pathogenic rs587777336 GRCh37 Chromosome 12, 5153456: 5153456

Expression for Atrial Fibrillation, Familial, 7

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 7.

Pathways for Atrial Fibrillation, Familial, 7

GO Terms for Atrial Fibrillation, Familial, 7

Sources for Atrial Fibrillation, Familial, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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