apparent mineralocorticoid excess
Findings
No curated finding names apparent mineralocorticoid excess yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Definition from the Mondo Disease Ontology (MONDO:0009025), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- HypertensionHPOHP:0000822
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating renin concentrationHPOHP:0003351
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
- Abnormal urine sodium concentrationHPOHP:0012603
- Frequent (30% to 79% of cases)
- Abnormality of circulating cortisol levelHPOHP:0011731
- Frequent (30% to 79% of cases)
- Decreased circulating aldosterone concentrationHPOHP:0004319
- Frequent (30% to 79% of cases)
Show the remaining 4
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- 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.
- HSD11B2HGNC:5209
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: apparent mineralocorticoid excess
- Also called
- 11 Beta-hydroxysteroid dehydrogenase type 2 deficiency11-beta-hydroxysteroid dehydrogenase deficiency type 2APEapparent mineralocorticoid excess syndromecortisol 11-beta-ketoreductase deficiencysyndrome of apparent mineralocorticoid ExcessUlick syndrome