Orphanet: Pseudohypoaldosteronism type 1

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Pseudohypoaldosteronism type 1

Disease definition

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


Classification level: Disorder
  • Synonym(s):
    • PHA type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: N25.8
  • OMIM: 177735  264350
  • UMLS: C0268436  C1449843
  • MeSH: D011546
  • GARD: -
  • MedDRA: -
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