Orphanet: Pseudohypoaldosteronism type 1

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Pseudohypoaldosteronism type 1

Disease definition

A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.


Classification level: Disorder
  • Synonym(s):
    • PHA type 1
    • PHA1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: N25.8
  • ICD-11: GB90.41
  • OMIM: 177735  264350
  • UMLS: C0268436
  • MeSH: D011546
  • GARD: -
  • MedDRA: -

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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