ORPHA:320
Apparent mineralocorticoid excess
Also known as: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
908
Trials
2
Interventional, condition-specific
Researchers
781
Distinct authors in sample
Gene link
HSD11B2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009025
- MeSH:C537422
- MeSH:D043204
- OMIM:218030
- UMLS:C0342488
- NCIT:C123231
- NCIT:C131083
Additional Mondo synonyms (6)
11 Beta-hydroxysteroid dehydrogenase type 2 deficiency · APE · apparent mineralocorticoid excess · apparent mineralocorticoid excess syndrome · cortisol 11-beta-ketoreductase deficiency · syndrome of apparent mineralocorticoid Excess
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — HSD11B2
- LiteraturePresent
908 matched papers (424 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (HSD11B2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
908
908 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
908 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
424 in the last 10 years · low confidence
Phrase hits: 908 · MeSH hits: 0
Who's working on it?
781
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Tapia-Castillo A10 papers · 2026
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 02Carvajal CA9 papers · 2026
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile. ccarvajm@uc.cl.
Papers in Europe PMC - 03Fardella CE9 papers · 2026
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile. cfardella@med.puc.cl.
Papers in Europe PMC - 04Baudrand R8 papers · 2026
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 05Allende F6 papers · 2025
Department of Clinical Laboratories, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 06Vecchiola A6 papers · 2020
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 07Bailey MA5 papers · 2026
British Heart Foundation Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, United Kingdom.
Papers in Europe PMC - 08Solari S5 papers · 2025
Department of Clinical Laboratories, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 09Campino C4 papers · 2019
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 10Vaidya A4 papers · 2026
Department of Medicine, Division of Endocrinology Diabetes and Hypertension, Center for Adrenal Disorders, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. anandvaidya@bwh.harvard.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Apparent mineralocorticoid excess" OR "11-beta-hydroxysteroid dehydrogenase deficiency type 2" OR "Ulick syndrome" OR "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" OR "apparent mineralocorticoid excess syndrome" OR "cortisol 11-beta-ketoreductase deficiency" OR "syndrome of apparent mineralocorticoid Excess" OR "syndrome of the apparent mineralocorticoid Excess"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Apparent mineralocorticoid excess" OR "11-beta-hydroxysteroid dehydrogenase deficiency type 2" OR "Ulick syndrome" OR "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" OR "apparent mineralocorticoid excess syndrome" OR "cortisol 11-beta-ketoreductase deficiency" OR "syndrome of apparent mineralocorticoid Excess" OR "syndrome of the apparent mineralocorticoid Excess" OR "HSD11B2"
Recall-expansion terms: HSD11B2
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: APE
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (908) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T13:23:47.468Z