Figure 1.

Schematic representation of ARPKD differential diagnosis. PHKD1 is the main causative gene in ARPKD, where DZIP1L present milder phenotype. Mutations in other genes can overlap clinical manifestations of ARPKD, such as PKD1 and PKD2, the main causative genes of autosomal dominant polycystic kidney disease (ADPKD); TSC2, that causes tuberous sclerosis (TSC); and others for instance HNF1β, nephronophthisis (NPHP) genes and other ciliopathies as Bardet–Biedl (BBS), Joubert (JS), and Meckel syndrome (MKS). These overlapping phenotypes manifest the physiologic complex and functional interactions that occur among ciliopathy genes.