ATFB12
MCID: ATR069
MIFTS: 19

Atrial Fibrillation, Familial, 12 (ATFB12)

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

Aliases & Classifications for Atrial Fibrillation, Familial, 12

MalaCards integrated aliases for Atrial Fibrillation, Familial, 12:

Name: Atrial Fibrillation, Familial, 12 58 76 30 13 6 74
Atfb12 58 76
Fibrillation, Atrial, Familial, Type 12 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial fibrillation, familial, 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614050
MeSH 45 D001281
MedGen 43 C3279695
SNOMED-CT via HPO 70 263681008 282825002
UMLS 74 C3279695

Summaries for Atrial Fibrillation, Familial, 12

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 familial atrial fibrillation, see ATFB1 (608583). (614050)

MalaCards based summary : Atrial Fibrillation, Familial, 12, also known as atfb12, is related to familial atrial fibrillation and brugada syndrome. An important gene associated with Atrial Fibrillation, Familial, 12 is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include heart, and related phenotype is paroxysmal atrial fibrillation.

UniProtKB/Swiss-Prot : 76 Atrial fibrillation, familial, 12: 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, 12

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 12

Human phenotypes related to Atrial Fibrillation, Familial, 12:

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 provoked by adrenergic stimulation

Cardiovascular Vascular:
focus of ectopic electrical activity in the vein of marshall

Clinical features from OMIM:

614050

Drugs & Therapeutics for Atrial Fibrillation, Familial, 12

Search Clinical Trials , NIH Clinical Center for Atrial Fibrillation, Familial, 12

Genetic Tests for Atrial Fibrillation, Familial, 12

Genetic tests related to Atrial Fibrillation, Familial, 12:

# Genetic test Affiliating Genes
1 Atrial Fibrillation, Familial, 12 30 ABCC9

Anatomical Context for Atrial Fibrillation, Familial, 12

MalaCards organs/tissues related to Atrial Fibrillation, Familial, 12:

42
Heart

Publications for Atrial Fibrillation, Familial, 12

Articles related to Atrial Fibrillation, Familial, 12:

# Title Authors Year
1
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. ( 17245405 )
2007

Variations for Atrial Fibrillation, Familial, 12

UniProtKB/Swiss-Prot genetic disease variations for Atrial Fibrillation, Familial, 12:

76
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.Thr1547Ile VAR_066210 rs387906805

ClinVar genetic disease variations for Atrial Fibrillation, Familial, 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC9 NM_020297.3(ABCC9): c.4512+814C> T single nucleotide variant Uncertain significance rs387906805 GRCh37 Chromosome 12, 21958118: 21958118
2 ABCC9 NM_020297.3(ABCC9): c.4512+814C> T single nucleotide variant Uncertain significance rs387906805 GRCh38 Chromosome 12, 21805184: 21805184
3 ABCC9 NM_005691.3(ABCC9): c.1012-7G> A single nucleotide variant Uncertain significance rs727502874 GRCh37 Chromosome 12, 22063919: 22063919
4 ABCC9 NM_005691.3(ABCC9): c.1012-7G> A single nucleotide variant Uncertain significance rs727502874 GRCh38 Chromosome 12, 21910985: 21910985
5 ABCC9 NM_020297.3(ABCC9): c.4535C> T (p.Thr1512Met) single nucleotide variant not provided rs554811993 GRCh38 Chromosome 12, 21801159: 21801159
6 ABCC9 NM_020297.3(ABCC9): c.4535C> T (p.Thr1512Met) single nucleotide variant not provided rs554811993 GRCh37 Chromosome 12, 21954093: 21954093
7 ABCC9 NM_020297.3(ABCC9): c.2312C> T (p.Thr771Ile) single nucleotide variant Uncertain significance rs180739851 GRCh37 Chromosome 12, 22015914: 22015914
8 ABCC9 NM_020297.3(ABCC9): c.2312C> T (p.Thr771Ile) single nucleotide variant Uncertain significance rs180739851 GRCh38 Chromosome 12, 21862980: 21862980

Expression for Atrial Fibrillation, Familial, 12

Search GEO for disease gene expression data for Atrial Fibrillation, Familial, 12.

Pathways for Atrial Fibrillation, Familial, 12

GO Terms for Atrial Fibrillation, Familial, 12

Sources for Atrial Fibrillation, Familial, 12

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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