Atrial fibrillation, familial, 11

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB11
familial atrial fibrillation, 11
Number of Symptoms 0
OMIM Id: 614049

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
24733048 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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


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). Mutations in the GJA5 gene are associated with early-onset atrial fibrillation (PMID:23040431, 20818502). ATFB11 is a sub-type of familial atrial fibrillation. For symptom annotation please refer to familial atrial fibrillation.

Symptom Information: Sort by abundance 

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GJA5 rs121434557 pathogenic RCV000018521.23
GJA5 rs387906612 pathogenic RCV000022512.29
GJA5 rs387906613 pathogenic RCV000022513.27
GJA5 rs387906614 pathogenic RCV000022514.27
GJA5 rs387906615 pathogenic RCV000022515.24
GJA5 rs587777304 pathogenic RCV000114757.2

Additional Information:

Molecular genetics OMIM Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They sequenced the GJA5 gene from genomic DNA isolated from resected cardiac tissue and peripheral lymphocytes from 15 patients ...