OMIA:001938 : Liver fibrosis, congenital, PKHD1-related |
Categories: Liver/biliary system phene
Possible human homologues (MIM numbers): 263200 (trait) , 606702 (gene)
Cross-species summary: Cyst formation and fibrotic degeneration of the liver, which ultimately leads to the complete failure of the organ. This phenotype is frequently seen in autosomal recessive polycystic kidney disease (ARPKD) involving cyst formation in the kidney and liver. Congenital liver fibrosis is frequently also called congenital hepatic fibrosis (CHF). Renamed from 'Congenital liver fibrosis' [15/06/2024]
Species in which this phene is found:
horse (Equus caballus)
Edit History
- Created by Tosso Leeb on 31 Oct 2014
- Changed by Tosso Leeb on 31 Oct 2014
- Changed by Tosso Leeb on 03 Nov 2014
- Changed by Imke Tammen2 on 22 Sep 2021
- Changed by Imke Tammen2 on 15 Jun 2024