ALG8-related autosomal dominant polycystic kidney and/or liver disease
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.
MONDO:0000426
autosomal dominant disease
is_a
ADPKLD-ALG8
exact
autosomal dominant polycystic kidney and/or liver disease-ALG8
exact