Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect

**Semantic type:** Finding

**Definition:** An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor.

**Synonyms:** - PHA1AD - Pseudohypoaldosteronism Type I Autosomal Dominant