DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 [DOID:0060854]

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.

Synonyms:  autosomal recessive pseudohypoaldosteronism type 1,  DOID:0060854,  PHA1B,  autosomal recessive PHA 1