Mutations in HNF1B in humans lead to maturity-onset diabetes of the young, type 5 (MODY5), cystic kidney disease, multicystic dysplastic kidneys, glomerulocystic kidney disease, autosomal dominant tubulointerstitial kidney disease, and congenital anomalies of the kidney and urinary tract (CAKUT) [56]. Here, HNF1B is linked to renal cysts and diabetes syndrome.