Traits

Traits linked to PKD1

polycystin 1, transient receptor potential channel interacting

The Human Phenotype Ontology links 30 traits to PKD1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Very often (80–99%)
Decreased glomerular filtration rate	Very often (80–99%)
Renal failure	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Calcium oxalate nephrolithiasis	Sometimes (5–29%)
Enlarged kidney	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Pyelonephritis	Sometimes (5–29%)
Reduced sperm motility	Sometimes (5–29%)
Uric acid stones	Sometimes (5–29%)
Polycystic kidney dysplasia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Abnormal systemic arterial morphology	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Cerebral berry aneurysm	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Liver cysts	Very often (80–99%)
Pancreatic cysts	Sometimes (5–29%)
Polycystic liver disease	Sometimes (5–29%)
Colonic diverticula	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated creatinine	Very often (80–99%)
Abnormal urinary electrolyte concentration	Often (30–79%)
Albuminuria	Often (30–79%)
Blood in urine	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Pituitary growth hormone cell adenoma	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Flank pain	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PKD1 and how often each is seen. Find out more at hpo.jax.org.

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