Trait
Increased circulating cortisol level
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
Summary
- Also called
- Cushing syndrome, Hypercortisolism, Increased cortisol production
- Body system
- Abnormality of the endocrine system
Reference genomeGRCh38hg38
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Get my Genome Test26 genes linked to Increased circulating cortisol level
Changes in these genes cause rare conditions in which Increased circulating 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.
| Gene | How often it is seen | Conditions |
|---|---|---|
| NR3C1nuclear receptor subfamily 3 group C member 1 | Always | In 3 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 4 conditions |
| AIREautoimmune regulator | Very often (80–99%) | In 1 condition |
| ARMC5armadillo repeat containing 5 | Very often (80–99%) | In 2 conditions |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| CDH23cadherin related 23 | Very often (80–99%) | In 1 condition |
| TP53tumor protein p53 | Very often (80–99%) | In 2 conditions |
| USP48ubiquitin specific peptidase 48 | Very often (80–99%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Very often (80–99%) | In 1 condition |
| CDKN2Acyclin dependent kinase inhibitor 2A | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| GNASGNAS complex locus | Often (30–79%) | In 5 conditions |
| KDM1Alysine demethylase 1A | Often (30–79%) | In 1 condition |
| PDE11Aphosphodiesterase 11A | Often (30–79%) | In 2 conditions |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| ZNRF3zinc and ring finger 3 | Often (30–79%) | In 1 condition |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Sometimes (5–29%) | In 2 conditions |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Sometimes (5–29%) | In 1 condition |
| HTR1A5-hydroxytryptamine receptor 1A | Sometimes (5–29%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sometimes (5–29%) | In 1 condition |
| MEN1menin 1 | Sometimes (5–29%) | In 2 conditions |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| PDE8Bphosphodiesterase 8B | Not recorded | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Not recorded | In 1 condition |
| RETret proto-oncogene | Not recorded | 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.
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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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