ALG8-related autosomal dominant polycystic kidney and/or liver disease

Definition

An autosomal dominant disease caused by variants in the ALG8 gene that is characterized by incomplete penetrance and a range of clinical manifestations, spanning from individuals with normal kidneys to those with numerous kidney cysts and chronic kidney disease (CKD). While the common presentation involves a limited number of kidney cysts and maintained kidney function, severe polycystic liver disease (PLD) with minimal kidney involvement (ADPLD) can also occur.

Also known as ADPKLD-ALG8, autosomal dominant polycystic kidney and/or liver disease-ALG8 — per MONDO