NR3C2 encodes nuclear receptor subfamily 3 group C member 2 (984 aa). Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Highest expression in Thyroid (19.3 TPM) and Ovary (13.1 TPM).

Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the NR3C2 gene on chromosome 4.

The NR3C2 protein participates in PIAS1 SUMOylates NR3C2 (Mineralcorticoid Receptor) with SUMO1 and NR3C2:NR3C2 ligands pathways.

NR3C2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 4.1.

Genetic testing for NR3C2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant pseudohypoaldosteronism type 1 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily industry-sponsored.

72 publications have been identified in PubMed for autosomal dominant pseudohypoaldosteronism type 1. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (11%), and Review / Meta-Analysis (10%).

Recent Publications

• Musa SA (2026). [PMID: 42255436](https://pubmed.ncbi.nlm.nih.gov/42255436/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]

• Abdulsalam TA (2026). [PMID: 42211633](https://pubmed.ncbi.nlm.nih.gov/42211633/). *Cureus*. [Case Report / Case Series]

• Kuchay MS (2026). [PMID: 42057493](https://pubmed.ncbi.nlm.nih.gov/42057493/). *Nephrology (Carlton)*. [Case Report / Case Series]

• Ma H (2026). [PMID: 42146936](https://pubmed.ncbi.nlm.nih.gov/42146936/). *Front Pediatr*. [Case Report / Case Series]

• Geronikolou S (2026). [PMID: 41569463](https://pubmed.ncbi.nlm.nih.gov/41569463/). *Hormones (Athens, Greece)*. [Case Report / Case Series]

• Wan-Nik FH (2026). [PMID: 42220954](https://pubmed.ncbi.nlm.nih.gov/42220954/). *World J Clin Pediatr*. [Case Report / Case Series]

• Alquraishi A (2026). [PMID: 42077744](https://pubmed.ncbi.nlm.nih.gov/42077744/). *Cureus*. [Case Report / Case Series]

• Cay M (2026). [PMID: 41380172](https://pubmed.ncbi.nlm.nih.gov/41380172/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Diagnostic / Biomarker]

• Bahadoran E (2026). [PMID: 41522852](https://pubmed.ncbi.nlm.nih.gov/41522852/). *Clinical case reports*. [Case Report / Case Series]

• Lessa LMA (2026). [PMID: 42258358](https://pubmed.ncbi.nlm.nih.gov/42258358/). *Am J Physiol Renal Physiol*. [Basic Science / Preclinical]