glucocorticoid-remediable aldosteronism
Findings
No curated finding names glucocorticoid-remediable aldosteronism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Definition from the Mondo Disease Ontology (MONDO:0007080), 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.
- Decreased circulating renin concentrationHPOHP:0003351
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Adrenal hyperplasiaHPOHP:0008221
- Frequent (30% to 79% of cases)
- Elevated aldosterone:renin ratioHPOHP:6000318
- Frequent (30% to 79% of cases)
- Increased circulating aldosterone concentrationHPOHP:0000859
- Frequent (30% to 79% of cases)
- Dilatation of the cerebral arteryHPOHP:0004944
- Occasional (5% to 29% of cases)
- EpistaxisHPOHP:0000421
- Occasional (5% to 29% of cases)
- HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
- Hypertension resistant to conventional therapyHPOHP:0430034
- Occasional (5% to 29% of cases)
- HypokalemiaHPOHP:0002900
- Occasional (5% to 29% of cases)
- Intracranial hemorrhageHPOHP:0002170
- Occasional (5% to 29% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)
Show the remaining 7
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- NauseaHPOHP:0002018
- Occasional (5% to 29% of cases)
- PolydipsiaHPOHP:0001959
- Occasional (5% to 29% of cases)
- RetinopathyHPOHP:0000488
- Occasional (5% to 29% of cases)
- Secretory adrenocortical adenomaHPOHP:0011746
- Occasional (5% to 29% of cases)
- StrokeHPOHP:0001297
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP11B1HGNC:2591
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: glucocorticoid-remediable aldosteronism
- Also called
- aldosteronism, glucocorticoid-remediabledexamethasone-sensitive hypertensionfamilial hyperaldosteronism type 1FH-IFH1glucocorticoid-sensitive hypertensionGRA