autosomal dominant polycystic liver disease
MIM.174050
Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD).
Loci
19p13.2-p13.1: mutations in PRKCSH gene (MIM.177060), encoding hepatocystin, the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER) (#12529853#)
- 6q21: mutations in SEC63 gene, encoding a component of the protein translocation machinery in the ER (#15133510#)
References
Drenth JP, Martina JA, van de Kerkhof R, Bonifacino JS, Jansen JB. Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol Med. 2005 Jan;11(1):37-42. PMID: #15649821#
Everson GT, Taylor MR, Doctor RB. Polycystic disease of the liver. Hepatology. 2004 Oct;40(4):774-82. PMID: #15382167#
Harris PC. Autosomal dominant polycystic kidney disease: clues to pathogenesis. Hum Mol Genet. 1999;8(10):1861-6. PMID: #10469838#