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Generalized pseudohypoaldosteronism type 1

Disease definition

A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.

ORPHA:171876

Classification level: Subtype of disorder
  • Synonym(s):
    • Autosomal recessive PHA1
    • Autosomal recessive pseudohypoaldosteronism type 1
    • Generalized PHA1
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: N25.8
  • OMIM: 264350
  • UMLS: C1449843
  • MeSH: -
  • GARD: 4552
  • MedDRA: -
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