/pseudohypoaldosteronism, type IB1, autosomal recessive

pseudohypoaldosteronism, type IB1, autosomal recessive

Rare Disease

MONDO:0009917

Also Known As

PHA1Bautosomal recessive PHA 1autosomal recessive pseudohypoaldosteronism type 1generalised PHA1generalised pseudohypoaldosteronism type 1generalized PHA1generalized pseudohypoaldosteronism type 1PHA I, autosomal recessivepseudohypoaldosteronism type 1 autosomal recessivepseudohypoaldosteronism type 1, recessivepseudohypoaldosteronism, type I, 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.