familial hypoaldosteronism
MONDO:0018541Mondo
Findings
No curated finding names familial hypoaldosteronism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
Definition from the Mondo Disease Ontology (MONDO:0018541), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Increased circulating renin concentrationHPOHP:0000848
- Obligate (100% of cases)
- Renal salt wastingHPOHP:0000127
- Obligate (100% of cases)
- Adrenal insufficiencyHPOHP:0000846
- Very frequent (80% to 99% of cases)
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- HyperkalemiaHPOHP:0002153
- Very frequent (80% to 99% of cases)
- HyponatremiaHPOHP:0002902
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- Very frequent (80% to 99% of cases)
- HypovolemiaHPOHP:0011106
- Very frequent (80% to 99% of cases)
- Decreased urinary potassiumHPOHP:0012364
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
Show the remaining 7
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- Metabolic acidosisHPOHP:0001942
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- Orthostatic hypotensionHPOHP:0001278
- Frequent (30% to 79% of cases)
- Proximal renal tubular acidosisHPOHP:0002049
- Frequent (30% to 79% of cases)
Where it sits
- A kind of