ORPHA:231580
Primary unilateral adrenal hyperplasia
Also known as: PUAH
Publications
145
60.7th percentile
Trials
0
Interventional, condition-specific
Researchers
729
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016504
- UMLS:C4274967
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
145 matched papers (129 in last 10 years) Source
- Phenotype characterisedPresent
15 HPO annotations (e.g. Decreased circulating renin concentration; Metabolic alkalosis; Epistaxis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
15
Associated phenotypes · MONDO:0016504
- Decreased circulating renin concentration
- Metabolic alkalosis
- Epistaxis
- Hypokalemia
- Increased urinary potassium
Showing 5 of 15 — 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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
145
145 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
145 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).
129 in the last 10 years · medium confidence · 60.7th percentile (publications denominator)
Phrase hits: 145 · MeSH hits: 0
Who's working on it?
729
Distinct author names in 145 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bertherat J16 papers · 2025
Endocrinology Department, INSERM U1016, Institut Cochin, Paris Descartes University, & Center for Rare Adrenal Diseases, Hôpital Cochin, APHP-Paris, France.
Papers in Europe PMC - 02Stratakis CA10 papers · 2025
Section on Genetics & Endocrinology (SEGEN), Program on Developmental Endocrinology & Genetics, NICHD, NIH, Bethesda MD 20892, USA. stratakc@mail.nih.gov
Papers in Europe PMC - 03
- 04Espiard S9 papers · 2025
Department of Endocrinology, Diabetology, Metabolism and Nutrition, CHU Lille, F-59000 Lille, France.
Papers in Europe PMC - 05Ragazzon B9 papers · 2025
U1016, INSERM, Institut Cochin , Paris , France ; UMR8104, CNRS , Paris , France ; Université Paris Descartes, Sorbonne Paris Cité , Paris , France.
Papers in Europe PMC - 06Reincke M9 papers · 2026
Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität, Ziemssenstraße 5, München 80336, Germany.
Papers in Europe PMC - 07Berthon A8 papers · 2025
Université Paris-Cité, Institut Cochin, Inserm U1016, CNRS UMR 8104, Paris, France.
Papers in Europe PMC - 08Lacroix A8 papers · 2023
Centre de recherché, Centre hospitalier de l'Université de Montréal (CHUM), Montréal, Québec H2X 0A9, Canada.
Papers in Europe PMC - 09Perlemoine K7 papers · 2025
Endocrinology Department, INSERM U1016, Institut Cochin, Paris Descartes University, & Center for Rare Adrenal Diseases, Hôpital Cochin, APHP-Paris, France.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (1)
- isrctn·ISRCTN37548161·No longer recruiting·POlyphenol CardioMetabolic Outcomes Study: The effects of green tea and coffee extracts on glucose metabolism and cardiovascular function in overweight and obese women with Polycystic Ovary Syndrome (PCOS) and insulin resistance
skipped — LLM skipped (--skip-llm)
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 Primary unilateral adrenal hyperplasia — check Associations / patient organisations on that page.
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.
"Primary unilateral adrenal hyperplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary unilateral adrenal hyperplasia"
Study-type breakdown: 0 interventional · 0 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: PUAH
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
Ingested 2026-07-27T10:18:48.401Z