early-onset familial hypoaldosteronism
Findings
No curated finding names early-onset familial hypoaldosteronism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.
Definition from the Mondo Disease Ontology (MONDO:0035320), read 2026-09-29. CC BY 4.0.
Features
15 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.
- 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)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Renal sodium wastingHPOHP:0012606
- Very frequent (80% to 99% of cases)
- Abnormal circulating corticosterone levelHPOHP:0012112
- Frequent (30% to 79% of cases)
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Frequent (30% to 79% of cases)
- DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
- Elevated serum 11-deoxycortisolHPOHP:0025436
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal external genitalia morphologyHPOHP:0000811
Show the remaining 3
- Increased circulating renin concentrationHPOHP:0000848
- Frequent (30% to 79% of cases)
- Orthostatic hypotensionHPOHP:0001278
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: early-onset familial hypoaldosteronism
- Also called
- Early-onset familial hyperreninemic hypoaldosteronismSevere aldosterone synthase deficiency