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 56 73 29 13 6 71
Atfb12 56 73
Fibrillation, Atrial, Familial, Type 12 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
atrial fibrillation, familial, 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614050
OMIM Phenotypic Series 56 PS608583
MeSH 43 D001281
MedGen 41 C3279695
SNOMED-CT via HPO 68 263681008 282825002
UMLS 71 C3279695

Summaries for Atrial Fibrillation, Familial, 12

OMIM : 56 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, is also known as atfb12. 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 : 73 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.

Symptoms & Phenotypes for Atrial Fibrillation, Familial, 12

Human phenotypes related to Atrial Fibrillation, Familial, 12:

31
# Description HPO Frequency HPO Source Accession
1 paroxysmal atrial fibrillation 31 HP:0004757

Symptoms via clinical synopsis from OMIM:

56
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 29 ABCC9

Anatomical Context for Atrial Fibrillation, Familial, 12

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

40
Heart

Publications for Atrial Fibrillation, Familial, 12

Articles related to Atrial Fibrillation, Familial, 12:

# Title Authors PMID Year
1
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 56 6
17245405 2007
2
Identification of a genetic locus for familial atrial fibrillation. 56
9070470 1997

Variations for Atrial Fibrillation, Familial, 12

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs)insertion Conflicting interpretations of pathogenicity 192108 rs761784169 12:21958185-21958186 12:21805251-21805252
2 ABCC9 NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile)SNV Uncertain significance 30185 rs387906805 12:21958118-21958118 12:21805184-21805184
3 ABCC9 NM_005691.3(ABCC9):c.1012-7G>ASNV Uncertain significance 162692 rs727502874 12:22063919-22063919 12:21910985-21910985
4 ABCC9 NM_005691.3(ABCC9):c.2312C>T (p.Thr771Ile)SNV Uncertain significance 546527 rs180739851 12:22015914-22015914 12:21862980-21862980
5 ABCC9 NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met)SNV not provided 489388 rs554811993 12:21954093-21954093 12:21801159-21801159

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

73
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.Thr1547Ile VAR_066210 rs387906805

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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