Features include always present findings: Hepatic cysts; and very common findings: Renal cyst.

ALG8 encodes ALG8 alpha-1,3-glucosyltransferase (526 aa). Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Testis (40.9 TPM) and Cells Cultured fibroblasts (28.9 TPM).

Polycystic liver disease 3 with or without kidney cysts is associated with mutations in the ALG8 gene on chromosome 11.

The ALG8 protein participates in Defective ALG8 causes CDG-1h, Regulation of CDH1 posttranslational processing and trafficking to plasma membrane, and Addition of a second glucose to the N-glycan precursor by ALG8 pathways.

ALG8 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for ALG8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for polycystic liver disease 3 with or without kidney cysts has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 very common feature.

No clinical trials have been registered for polycystic liver disease 3 with or without kidney cysts.

204 publications have been identified in PubMed for polycystic liver disease 3 with or without kidney cysts. Kisho has analyzed 147 by research type. Research spans Basic Science / Preclinical (29%), Review / Meta-Analysis (27%), and Case Report / Case Series (11%).