Axenfeld-Rieger Syndrome

About the Disease
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, pituitary and skin, and related phenotypes are posterior embryotoxon and aplasia/hypoplasia of the iris

Common Targets
MMRN1 | PTPN11 | CYP1B1 | FOXC1 | PITX2 | PRDM5 | COL12A1

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