Medullary cystic kidney disease type 2 (MIM 603860) and familial juvenile hyperuricemic nephropathy (MIM 162000) are autosomal dominant tubulointerstitial kidney diseases that are due to UMOD gene mutations and are collectively called uromodulin-associated kidney disease (UAKD). This evidence concerns the gene UMOD and autosomal dominant medullary cystic kidney disease with or without hyperuricemia.