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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,016
Trials
0
Interventional, condition-specific
Researchers
1,044
Distinct authors in sample
Gene link
NR3C2
Limited
Readiness
3/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011517
- MeSH:C565359
- OMIM:605115
- UMLS:C1854631
Additional Mondo synonyms (3)
early-onset hypertension with exacerbation in pregnancy · hypertension due to gain-of-function mutations in the mineralocorticoid receptor · hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — NR3C2
- LiteraturePresent
4,016 matched papers (3,188 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Decreased circulating renin concentration; Hypertension; Decreased circulating aldosterone concentration) 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?
Possibly — only limited evidence so far for NR3C2.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
3
Associated phenotypes · MONDO:0011517
- Decreased circulating renin concentration
- Hypertension
- Decreased circulating aldosterone concentration
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 2026-07-27
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?
4,016
4,016 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.
4,016 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).
3,188 in the last 10 years · low confidence
Phrase hits: 848 · MeSH hits: 0
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
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 9 September 2026 · last trial check 9 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.
low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27
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 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor — 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.
("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 (MESH:"Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy") OR ("NR3C2" OR "NR3C2 syndrome" OR "NR3C2-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (4016) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T02:32:52.629Z