IEMbase 0133: NR3C2-related Mineralocorticoid receptor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 133 |
| Nosology | 24.2.28.01 |
| Gene | NR3C2 |
| External IDs | OMIM:264350; ORPHA:444916 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid NR3C2/pseudohypoaldosteronism type 1 target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as NR3C2-related mineralocorticoid receptor deficiency, with alternate labels pseudohypoaldosteronism, mineralocorticoid resistance, and PHA1. Treatability is marked unknown.
The characteristic biochemical rows are increased renin activity, increased renin, increased potassium, decreased sodium, and increased aldosterone across age bins. The characteristic clinical row is renal salt loss. No treatment rows are listed.
DisMech phenotype coverage
No local standalone NR3C2-related pseudohypoaldosteronism type 1 or mineralocorticoid resistance target was found. NR3C2 appears in central serous chorioretinopathy as a susceptibility/signaling component, but that is a retinal pachychoroid disorder and not a renal salt-wasting endocrine disease.
Familial hyperaldosteronism entries model aldosterone excess with suppressed renin physiology and are directionally different from PHA1, where aldosterone and renin rise because the kidney is resistant to mineralocorticoid signaling.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase biochemical pattern is distinctive for mineralocorticoid resistance: hyperkalemia, hyponatremia, high aldosterone, and high renin/renin activity. No existing DisMech target captures that NR3C2 renal receptor-resistance mechanism.
Curation actions
- Keep this record unmapped until an NR3C2/PHA1 entry exists.
- Do not map to familial hyperaldosteronism or central serous chorioretinopathy.
- Future curation should model renal salt loss, hyperkalemia, hyponatremia, elevated renin/aldosterone, and mineralocorticoid receptor resistance.