glucocorticoid resistance
MONDO:0014421Mondo
Findings
No curated finding names glucocorticoid resistance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating ACTH levelHPOHP:0003154
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Increased circulating androstenedione concentrationHPOHP:0025380
- 1 of 1 reported patient
- Increased circulating cortisol levelHPOHP:0003118
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Increased serum testosterone levelHPOHP:0030088
- 1 of 1 reported patient
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- HirsutismHPOHP:0001007
- Very frequent (80% to 99% of cases)
- Increased urinary cortisol levelHPOHP:0012030
- Very frequent (80% to 99% of cases)
- Abnormal circulating testosterone concentrationHPOHP:0030087
- Frequent (30% to 79% of cases)
- AcneHPOHP:0001061
- Frequent (30% to 79% of cases)
- Adrenal hyperplasiaHPOHP:0008221
- Frequent (30% to 79% of cases)
- HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
Show the remaining 11
- HypokalemiaHPOHP:0002900
- Frequent (30% to 79% of cases)
- Metabolic alkalosisHPOHP:0200114
- Frequent (30% to 79% of cases)
- OligomenorrheaHPOHP:0000876
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Occasional (5% to 29% of cases)
- Female pseudohermaphroditismHPOHP:0010458
- Occasional (5% to 29% of cases)
- Frontal baldingHPOHP:0002292
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR3C1HGNC:7978
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021