Renal Tubulopathies and related disorders

Gene: NR3C2

Green List (high evidence)

Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF.

Created: 12 May 2021, 9:33 p.m. | Last Modified: 12 May 2021, 9:33 p.m.

Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329

Publications

• 9662404
• 11134129
• 11344206
• 12788847
• 16972228