Atrial fibrillation, familial, 12

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB12
Familial atrial fibrillation 12
Number of Symptoms 0
OrphanetNr:
OMIM Id: 614050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
19666641 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial atrial fibrillation
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder. (PMID:24333117, 23551519) Atrial fibrillation, familial, 12 is a sub-type of familial atrial fibrillation. For symptom annotation please refer to familial atrial fibrillation.

Symptom Information: Sort by abundance 

Associated genes:

ABCC9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ABCC9 rs387906805 pathogenic RCV000023103.3

Additional Information:

Clinical Description OMIM Olson et al. (2007) studied a 53-year-old white woman who presented with a 10-year history of daily paroxysms of atrial fibrillation (AF) that peaked with morning activity. At the time of presentation, the episodes were increasing in frequency ...
Molecular genetics OMIM In a 53-year-old white woman with paroxysmal AF, Olson et al. (2007) sequenced cardiac ion channel genes and identified a heterozygous missense mutation in the ABCC9 gene (T1547I; 601439.0003) that was not found in 2,000 unrelated and predominantly ...