Disease

Polycystic kidney disease 11, 2, 3

Gene

PKD1

Inheritance AR and AD
Current Treatments Tolvaptan
Evidence for Treatment guideline4
Non-Molecular Testing Availability yes
Non-Molecular Test renal ultrasound5
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC037
Disease Frequency (per 100,000) 63.52, 6
Genes Included in Disease Frequency PKD1, PKD2
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Polycystic+Kidney+Diseases&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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