ORPHA:403
Familial hyperaldosteronism type I
Also known as: Dexamethasone-sensitive hypertension · FH-I · FH1 · Familial hyperaldosteronism type 1 · GRA · Glucocorticoid-remediable aldosteronism · Glucocorticoid-sensitive hypertension
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
643
83.8th percentile
Trials
0
Interventional, condition-specific
Researchers
934
Distinct authors in sample
Gene link
CYP11B1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
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:0007080
- MeSH:C563177
- OMIM:103900
- UMLS:C3838731
Additional Mondo synonyms (5)
aldosteronism, glucocorticoid-remediable · dexamethasone-sensitive hypertension · familial hyperaldosteronism type 1 · glucocorticoid-remediable aldosteronism · glucocorticoid-sensitive hypertension
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
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
Strong — CYP11B1
- LiteraturePresent
643 matched papers (280 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?
Yes — we know a specific gene responsible (CYP11B1).
GenCC classification: Strong.
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?
643
643 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.
643 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).
280 in the last 10 years · medium confidence · 83.8th percentile (publications denominator)
Phrase hits: 643 · MeSH hits: 0
Who's working on it?
934
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.
- 01Rossi GP6 papers · 2025
Department of Medicine-DIMED, University of Padua, Padua PD, Italy.
Papers in Europe PMC - 02Seccia TM6 papers · 2025
Department of Medicine-DIMED, University of Padua, Padua PD, Italy.
Papers in Europe PMC - 03Wu VC6 papers · 2022
Department of Internal Medicine, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Papers in Europe PMC - 04Gomez-Sanchez CE5 papers · 2024
Division of Endocrinology, G.V. (Sonny) Montgomery VA Medical Center, Jackson, Mississippi.
Papers in Europe PMC - 05Mulatero P5 papers · 2025
Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy.
Papers in Europe PMC - 06Vaidya A5 papers · 2025
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 - 07Williams TA5 papers · 2021
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy.
Papers in Europe PMC - 08Auchus RJ4 papers · 2025
Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, Ann Arbor, MI, USA.
Papers in Europe PMC - 09Faucz FR4 papers · 2022
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda MD, United States.
Papers in Europe PMC - 10Peng KY4 papers · 2022
Department of Internal Medicine, National Taiwan University Hospital, Taipei City, Taiwan.
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Broader category familial hyperaldosteronism also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: familial hyperaldosteronism
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
3 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.
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.
"Familial hyperaldosteronism type I" OR "Dexamethasone-sensitive hypertension" OR "Familial hyperaldosteronism type 1" OR "Glucocorticoid-remediable aldosteronism" OR "Glucocorticoid-sensitive hypertension" OR "aldosteronism, glucocorticoid-remediable"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hyperaldosteronism type I" OR "Dexamethasone-sensitive hypertension" OR "Familial hyperaldosteronism type 1" OR "Glucocorticoid-remediable aldosteronism" OR "Glucocorticoid-sensitive hypertension" OR "aldosteronism, glucocorticoid-remediable" OR "CYP11B1"
Recall-expansion terms: CYP11B1
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"familial hyperaldosteronism"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FH-I; FH1; GRA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:44:21.095Z