IEMbase 0132: NR3C1-related Glucocorticoid receptor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 132 |
| Nosology | 24.2.12.01 |
| Gene | NR3C1 |
| External IDs | OMIM:138040; ORPHA:786 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid NR3C1/glucocorticoid resistance target found; generated familial-hyperaldosteronism neighbor is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as NR3C1-related glucocorticoid receptor deficiency, with alternate labels glucocorticoid resistance and GCCR defect. Treatability is marked unknown.
The characteristic biochemical rows include low potassium, increased plasma cortisol, and increased urinary cortisol. ACTH is normal-to-increased, and urinary cortisol after dexamethasone suppression is recorded as normal. Clinical characteristic rows include alkalosis, Cushing stigmata, hypertension, and hypokalemic alkalosis. No treatment rows are listed.
DisMech phenotype coverage
No local standalone glucocorticoid resistance or NR3C1 receptor deficiency entry was found. The generated neighbor to familial hyperaldosteronism is a phenotype overlap only: both can have hypertension and hypokalemia, but familial hyperaldosteronism is an aldosterone-production disorder, not a glucocorticoid receptor resistance disorder.
Central serous chorioretinopathy contains glucocorticoid/mineralocorticoid receptor signaling in a complex retinal disease context, but it is not a valid target for NR3C1 deficiency.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase record points to primary glucocorticoid resistance: cortisol excess with receptor-level resistance and mineralocorticoid-like clinical consequences. Current DisMech entries do not model NR3C1 receptor deficiency as a disease.
Curation actions
- Keep this record unmapped.
- Do not map to familial hyperaldosteronism or central serous chorioretinopathy.
- Future curation should add NR3C1/glucocorticoid resistance with cortisol, ACTH, potassium, hypertension, alkalosis, and glucocorticoid receptor mechanism coverage.