ALG8-related autosomal dominant polycystic kidney and/or liver disease
Findings
No curated finding names ALG8-related autosomal dominant polycystic kidney and/or liver disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:1060122), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: ALG8-related autosomal dominant polycystic kidney and/or liver disease
- Also called
- ADPKLD-ALG8autosomal dominant polycystic kidney and/or liver disease-ALG8