ORPHA:88660
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Also known as: Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2
Clinical definition (Orphanet)
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
Is anyone studying this?
848
848 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=183) is 38.
848 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
687 in the last 10 years · high confidence · 92.1th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Possibly — only limited evidence so far for NR3C2.
GenCC classification: Limited.
Who's working on it?
1,044
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.
- 01Dauvilliers Y14 papers · 2026
Sleep-Wake Disorders Center, Department of Neurology, Gui de Chauliac Hospital, CHU, Montpellier, France.
Papers in Europe PMC - 02Plazzi G11 papers · 2026
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. Electronic address: giuseppe.plazzi@unibo.it.
Papers in Europe PMC - 03Pizza F10 papers · 2026
Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum, University of Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Papers in Europe PMC - 04Barateau L9 papers · 2026
Sleep-Wake Disorders Center, Department of Neurology, Gui de Chauliac Hospital, CHU, Montpellier, France.
Papers in Europe PMC - 05Lammers GJ7 papers · 2025
Stichting Epilepsie Instelling Nederland (SEIN), Heemstede, The Netherlands.
Papers in Europe PMC - 06Mignot E7 papers · 2026
Stanford Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA.
Papers in Europe PMC - 07Fronczek R6 papers · 2025
Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands; Sleep-Wake Center, Stichting Epilepsie Instellingen Nederlands (SEIN), Heemstede, the Netherlands. Electronic address: r.fronczek@lumc.nl.
Papers in Europe PMC - 08Biscarini F5 papers · 2026
Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Italy.
Papers in Europe PMC - 09
- 10
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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.
Recruiting or not-yet-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 below but are not added to the query string.
"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor" OR "Early-onset hypertension with exacerbation in pregnancy" OR "Pseudohyperaldosteronism type 2" OR "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy"
MeSH descriptor terms unioned into the query: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor" OR "Early-onset hypertension with exacerbation in pregnancy" OR "Pseudohyperaldosteronism type 2" OR "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" OR "Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy" OR "NR3C2"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C565359 OMIM:605115 UMLS:C1854631
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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