Atrial fibrillation, familial, 9

General Information (adopted from Orphanet):

Synonyms, Signs: ATFB9
familial atrial fibrillation, 9
Number of Symptoms 0
OMIM Id: 613980

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
15922306 [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). Atrial fibrillation, familial, 9 is a sub-type of familial atrial fibrillation and is caused by gain-of-function mutations in KIR2.1 (KCNJ2) (PMID:15922306). 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
KCNJ2 rs147750704 pathogenic RCV000023029.2

Additional Information:

Clinical Description OMIM Xia et al. (2005) studied a 4-generation Chinese family segregating autosomal dominant atrial fibrillation (AF). The proband was a 59-year-old man who had been diagnosed with AF at 54 years of age and had paroxysmal AF 2 to ...
Molecular genetics OMIM In the probands from 30 unrelated Chinese kindreds with atrial fibrillation (AF), Xia et al. (2005) analyzed 10 candidate ion channel or transporter-related genes, and identified a heterozygous missense mutation in the KCNJ2 gene (600681.0014) in 1 of ...