PKD1 (, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000).

Genetic Heterogeneity of Polycystic Kidney Disease

Also see polycystic kidney disease-2 (PKD2; 613095), caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666), caused by mutation in the GANAB gene (104160) on chromosome 11q13; PKD4 (263200), caused by mutation in the PKHD1 gene (606702) on chromosome 6p12; PKD5 (617610), caused by mutation in the DZIP1L gene (617570) on chromosome 3q22; and PKD6 (618061), caused by mutation in the DNAJB11 gene (611341) on chromosome 3q27.