The genetic defects in PBX1 are implicated in a broad spectrum of renal and extrarenal manifestations, including varying degrees of renal hypoplasia or dysplasia, and anomalies affecting the genitourinary, branchial, and skeletal systems, collectively referred to as congenital anomalies of the kidney and urinary tract (CAKUT). This evidence concerns the gene PBX1 and congenital anomaly of kidney and urinary tract.