A recent study that analyzed PKHD1 gene missense mutations (taking amino acid location into account) in 304 patients with ARPKD (representing 277 family lineages) found less likelihood for progression to kidney failure in individuals with a missense gene mutation at amino acids 709–1837, but portal hypertension and severe hepatic complications in those with a missense gene mutation at amino acids 2625–4074 [61]. Here, PKHD1 is linked to portal hypertension.