PKD1 Gene and Polycystic Kidney Disease: Mutations and Clinical Trials
The PKD1 gene sits on chromosome 16p13.3, and its full name is polycystin 1, transient receptor potential channel interacting. Orphanet links PKD1 to 2 rare conditions and lists variants in the gene as a cause of 1 of them. Trial Friend's Polycystic Kidney Disease page lists PKD1 among the genes behind the condition. As of September 29, 2026, 3 recruiting or soon-opening trials on ClinicalTrials.gov name PKD1 as a gene.
Other symbols for PKD1 in gene databases: PBP, Pc-1, TRPP1.
What the PKD1 gene does
PKD1 makes polycystin-1, a protein that spans the membrane of kidney cells and is most active before birth. Working with polycystin-2, it passes signals that help kidney cells respond to their surroundings and mature.
Summarized from the PKD1 page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
PKD1 and Polycystic Kidney Disease
These condition pages list PKD1 among the genes behind the condition, checked against genetics references when each page was written.
Inheritance: autosomal dominant or recessive depending on gene.
PKD1 and PKD2 cause autosomal dominant PKD (about 10% de novo); PKHD1 causes the autosomal recessive form. PKD2 disease is generally milder and later.
PKD1 mutation clinical trials
These recruiting or soon-opening trials mention PKD1 as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
3 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to PKD1 gene mutations
Orphanet records how each gene relates to each condition. Orphanet links PKD1 to 2 rare conditions and lists variants in the gene as a cause of 1 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Plays a part. Orphanet lists the gene as shaping the condition, often as one of several genes in a missing or extra piece of a chromosome.
PKD1 genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on PKD1.
PKD1 gene questions
What does the PKD1 gene do?
PKD1 makes polycystin-1, a protein that spans the membrane of kidney cells and is most active before birth. Working with polycystin-2, it passes signals that help kidney cells respond to their surroundings and mature. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with PKD1 gene variants?
As of September 29, 2026, 3 recruiting or soon-opening trials on ClinicalTrials.gov name PKD1 as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 47 open trials for Polycystic Kidney Disease, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the PKD1 gene?
Orphanet links PKD1 to 2 rare conditions and lists variants in the gene as a cause of 1 of them. They include Autosomal dominant polycystic kidney disease and Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis. Orphanet is the European rare disease database run by INSERM in Paris.
How is Polycystic Kidney Disease inherited?
Inheritance: autosomal dominant or recessive depending on gene. PKD1 and PKD2 cause autosomal dominant PKD (about 10% de novo); PKHD1 causes the autosomal recessive form. PKD2 disease is generally milder and later.
What does a PKD1 variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- PKD1 gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.