Features include always present findings: Increased circulating ACTH level and Decreased circulating cortisol level; and sometimes findings: Precocious puberty, Congenital hypothyroidism, Cryptorchidism, and Renal salt wasting and others. 14 total HPO annotations.

NNT encodes nicotinamide nucleotide transhydrogenase (1,086 aa). The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. Highest expression in Muscle Skeletal (69.7 TPM) and Heart Atrial Appendage (53.1 TPM).

Glucocorticoid deficiency 4 is associated with mutations in the NNT gene on chromosome 5.

NNT is classified as a druggable target (Enzyme category) with score 0.0.

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

Biomarker and diagnostic research for glucocorticoid deficiency 4 has been reported in the published literature.

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for glucocorticoid deficiency 4.

184 publications have been identified in PubMed for glucocorticoid deficiency 4. Kisho has analyzed 76 by research type. Research spans Review / Meta-Analysis (22%), Basic Science / Preclinical (20%), and Case Report / Case Series (18%).