Features include always present findings: Increased circulating ACTH level, Increased serum testosterone level, Increased circulating androstenedione concentration, and Irregular menstruation and others; and sometimes findings: Anxiety and Infertility. 12 total HPO annotations.

NR3C1 encodes nuclear receptor subfamily 3 group C member 1 (777 aa). Receptor for glucocorticoids (GC). Highest expression in Cells EBV-transformed lymphocytes (55.3 TPM) and Nerve Tibial (34.5 TPM).

Glucocorticoid resistance is associated with mutations in the NR3C1 gene on chromosome 5.

NR3C1 is classified as a druggable target (Druggable Genome, Enzyme, Nuclear Hormone Receptor, and Transcription Factor categories) with score 1.2.

Genetic testing for NR3C1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glucocorticoid resistance has been reported in the published literature.

Phenotype severity distribution: 5 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE4. Research is primarily sponsored by academic and government institutions.

103 publications have been identified in PubMed for glucocorticoid resistance. Research spans Basic Science / Preclinical (42%), Review / Meta-Analysis (30%), and Diagnostic / Biomarker (7%).