pseudohypoaldosteronism type 2
MONDO:0019162Mondo
Findings
No curated finding names pseudohypoaldosteronism type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.
Definition from the Mondo Disease Ontology (MONDO:0019162), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperkalemiaHPOHP:0002153
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Occasional (5% to 29% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- Periodic paralysisHPOHP:0003768
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
11 names
Resolves to: pseudohypoaldosteronism type 2
- Also called
- chloride shunt syndromefamilial hyperkalemic hypertensionGordon hyperkalemia-hypertension syndromehyperkalemia-hypertension syndrome, Gordon typehypertensive hyperkalemiamineralocorticoid resistant hyperkalemiaPHA2PHAIIpseudohypoaldosteronism, type 2pseudohypoaldosteronism, type IISpitzer-Weinstein syndrome