autosomal recessive pseudohypoaldosteronism type 1 (DOID:0060854)
Alliance: disease page
Synonyms: autosomal recessive PHA 1; PHA1B
Alt IDs: OMIM:264350, ICD10CM:N25.8, MESH:D011546, ORDO:171876, ORDO:756, UMLS_CUI:C0268436
Definition: A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.