polycystic liver disease 3 with or without kidney cysts
Findings
No curated finding names polycystic liver disease 3 with or without kidney cysts yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.
Definition from the Mondo Disease Ontology (MONDO:0054743), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hepatic cystsHPOHP:0001407
- 5 of 5 reported patients
- Renal cystHPOHP:0000107
- 4 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALG8HGNC:23161
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022