These include Dent disease (CLCN5, OCRL), AD tubulointerstitial kidney disease (ADTKD due to UMOD variants), nephronophthisis (TTC21B, NPHP4), Imerslund-Grasbeck syndrome 1 (CUBN) and papillorenal syndrome (PAX2). Here, NPHP4 is linked to nephronophthisis.