Altogether, 35 individuals from 18 families were found to have ten distinct UMOD mutations (three novel), making up 1% of patients with CKD 3–5, 2% of patients with end-stage renal disease, 9% of inherited kidney diseases and 56% with ADTKD. Here, UMOD is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.