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ORPHA:320

Apparent mineralocorticoid excess

low confidenceDisorder

Also known as: 11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Publications

2,957

Trials

2

Interventional, condition-specific

Researchers

781

Distinct authors in sample

Gene link

HSD11B2

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — HSD11B2

  2. LiteraturePresent

    2,957 matched papers (1,887 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Short stature; Failure to thrive; Hypertensive retinopathy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

27

Associated phenotypes · MONDO:0009025

  • Short stature
  • Failure to thrive
  • Hypertensive retinopathy
  • Small for gestational age
  • Decreased circulating renin concentration

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 43 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Metyrapone · therapeutic
  • Hydrocortisone · marker/mechanism

Pathways: Steroid hormone biosynthesis; Insulin signaling pathway; Aldosterone-regulated sodium reabsorption; C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisone; Hemostasis; Opioid Signalling; PKA-mediated phosphorylation of CREB; Calmodulin induced events

MyDisease.info · MONDO:0009025

Literature

Is anyone studying this?

2,957

2,957 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=3967) is 59.

2,957 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,887 in the last 10 years · low confidence

Phrase hits: 908 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Tapia-Castillo A10 papers · 2026

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  2. 02
    Carvajal CA9 papers · 2026

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile. ccarvajm@uc.cl.

    Papers in Europe PMC
  3. 03
    Fardella CE9 papers · 2026

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile. cfardella@med.puc.cl.

    Papers in Europe PMC
  4. 04
    Baudrand R8 papers · 2026

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  5. 05
    Allende F6 papers · 2025

    Department of Clinical Laboratories, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  6. 06
    Vecchiola A6 papers · 2020

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  7. 07
    Bailey MA5 papers · 2026

    British Heart Foundation Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, United Kingdom.

    Papers in Europe PMC
  8. 08
    Solari S5 papers · 2025

    Department of Clinical Laboratories, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  9. 09
    Campino C4 papers · 2019

    Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

    Papers in Europe PMC
  10. 10
    Vaidya 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Apparent mineralocorticoid excess — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("HSD11B2" OR "HSD11B2 syndrome" OR "HSD11B2-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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 (2957) 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