pseudohypoaldosteronism type 1
Findings
No curated finding names pseudohypoaldosteronism type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0019161), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: pseudohypoaldosteronism type 1
- Also called
- PHA type 1pseudohypoaldosteronism, type I