Pseudohypoaldosteronism, type IB1, autosomal recessive
Pseudohypoaldosteronism, type IB1, autosomal recessive
Definition
Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
Also known as autosomal recessive PHA 1, autosomal recessive pseudohypoaldosteronism type 1, generalised PHA1, generalised pseudohypoaldosteronism type 1, generalized PHA1, generalized pseudohypoaldosteronism type 1, PHA1B — per MONDO