Axenfeld-Rieger Syndrome (ARS)

Axenfeld-Rieger Syndrome, also known as axenfeld syndrome, is related to axenfeld-rieger syndrome, type 1 and axenfeld-rieger syndrome, type 3. An important gene associated with Axenfeld-Rieger Syndrome is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Mesodermal commitment pathway. Affiliated tissues include eye and pituitary, and related phenotypes are posterior embryotoxon and aplasia/hypoplasia of the iris