autosomal recessive pseudohypoaldosteronism type 1

Term ID

DOID:0060854

Synonyms

• autosomal recessive PHA 1
• PHA1B

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. (3)

References

• GARD:4552
• MESH:D011546
• NCI:C123251
• OMIM:264350
• ORDO:171876
• ORDO:756
• SNOMEDCT_US_2023_03_01:43941006
• UMLS_CUI:C0268436

Ontology

Human Disease   ( DOID:0060854 )