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Trait

High urine cortisol level

Clinical name: Increased urinary cortisol level

Abnormally increased concentration of cortisol in the urine.

HPO HP:0012030

Summary

Body system
Laboratory abnormalityAbnormality of the genitourinary system

16 genes linked to High urine cortisol level

Changes in these genes cause rare conditions in which High urine cortisol level is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ARMC5armadillo repeat containing 5AlwaysIn 2 conditions
PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alphaAlwaysIn 3 conditions
ATRXATRX chromatin remodelerVery often (80–99%)In 1 condition
BRAFB-Raf proto-oncogene, serine/threonine kinaseVery often (80–99%)In 1 condition
CDH23cadherin related 23Very often (80–99%)In 1 condition
NR3C1nuclear receptor subfamily 3 group C member 1Very often (80–99%)In 2 conditions
TP53tumor protein p53Very often (80–99%)In 2 conditions
USP48ubiquitin specific peptidase 48Very often (80–99%)In 1 condition
USP8ubiquitin specific peptidase 8Very often (80–99%)In 1 condition
CDKN2Acyclin dependent kinase inhibitor 2AOften (30–79%)In 1 condition
CTNNB1catenin beta 1Often (30–79%)In 1 condition
GNASGNAS complex locusOften (30–79%)In 1 condition
KDM1Alysine demethylase 1AOften (30–79%)In 1 condition
TERTtelomerase reverse transcriptaseOften (30–79%)In 1 condition
ZNRF3zinc and ring finger 3Often (30–79%)In 1 condition
CDKN1Bcyclin dependent kinase inhibitor 1BSometimes (5–29%)In 1 condition

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.

Broader traits

Abnormal urine steroid level

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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