Polycystic liver disease 3 with or without kidney cysts
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Sign InDescription
PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
4