ORPHA:88938
Pseudohypoaldosteronism type 2A
Also known as: PHA2A
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
649
86.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,396
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007772
- OMIM:145260
- UMLS:C1840389
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.”
1/6 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
649 matched papers (342 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 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)
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?
649
649 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.
649 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).
342 in the last 10 years · high confidence · 86.4th percentile (publications denominator)
Phrase hits: 649 · MeSH hits: 0
Who's working on it?
1,396
Distinct author names in 200 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.
- 01Denis CV7 papers · 2026
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1176, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 02Lenting PJ7 papers · 2026
Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1176, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 03Wang S7 papers · 2026
Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Papers in Europe PMC - 04Susen S5 papers · 2026
Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, Lille, France.
Papers in Europe PMC - 05Baronciani L4 papers · 2026
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Papers in Europe PMC - 06Concha L4 papers · 2026
Instituto de Neurobiología, Universidad Nacional Autónoma de México Campus Juriquilla, Querétaro, Mexico.
Papers in Europe PMC - 07Peyvandi F4 papers · 2026
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Papers in Europe PMC - 08Budde U3 papers · 2014
Prof. Dr. Ulrich Budde, MEDILYS Laborgesellschaft mbH, c/o ASKLEPIOS Klinik Altona, Zentrales Labor, Paul-Ehrlich-Straße 1, 22763 Hamburg, Germany, Tel. +49/(040)/18 18 81-59 75 Fax -49 48, E-mail: u.budde@asklepios.com, www.medilys.de.
Papers in Europe PMC - 09Casari C3 papers · 2025
Laboratory for Hemostasis, Inflammation & Thrombosis (HITh), Unité Mixte de Recherche 1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Papers in Europe PMC - 10Chen C3 papers · 2025
Department of Neurology, Epilepsy Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Papers in Europe PMC
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Pseudohypoaldosteronism type 2A" OR "PHA2A"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pseudohypoaldosteronism type 2A" OR "PHA2A" OR "inherited pseudohypoaldosteronism"
Recall-expansion terms: inherited pseudohypoaldosteronism
Study-type breakdown: 0 interventional · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:26:06.789Z