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polycystic liver disease 4 with or without kidney cysts

An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.

Therapeutic area
Gastroenterology
Rarity
Unknown
Prevalence
MONDO
MONDO:0044327

Overview

An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.

Content last reviewed: 2026-06