familial hypoaldosteronism
ORPHA: 427
Overview
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial hypoaldosteronism, sourced from HPO and Orphanet clinical annotations.
Renal salt wastingIncreased circulating renin concentrationAdrenal insufficiencyFailure to thriveHyperkalemiaHypotensionHyponatremiaDecreased circulating aldosterone concentrationHypovolemiaLethargyOrthostatic hypotensionGrowth delayMetabolic acidosisRecurrent feverDiarrheaNausea and vomitingProximal renal tubular acidosisFeeding difficultiesDecreased urinary potassium
Classification & Codes
Orphanet Code
ORPHA:427familial hypoaldosteronism
| Orphanet | ORPHA:427 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO