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ORPHA:403

Familial hyperaldosteronism type I

low confidenceDisorder

Also known as: Dexamethasone-sensitive hypertension · FH-I · FH1 · Familial hyperaldosteronism type 1 · GRA · Glucocorticoid-remediable aldosteronism · Glucocorticoid-sensitive hypertension

Publications

4,157

Trials

0

Interventional, condition-specific

Researchers

934

Distinct authors in sample

Gene link

CYP11B1

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

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.

  1. Gene identifiedPresent

    Strong — CYP11B1

  2. LiteraturePresent

    4,157 matched papers (2,482 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Hypertension; Increased circulating aldosterone concentration; Decreased circulating renin concentration) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

20

Associated phenotypes · MONDO:0007080

  • Hypertension
  • Increased circulating aldosterone concentration
  • Decreased circulating renin concentration
  • Adrenogenital syndrome
  • Abnormality of the urinary system

Showing 5 of 20 — 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?

4,157

4,157 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.

4,157 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).

2,482 in the last 10 years · low confidence

Phrase hits: 643 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Rossi GP6 papers · 2025

    Department of Medicine-DIMED, University of Padua, Padua PD, Italy.

    Papers in Europe PMC
  2. 02
    Seccia TM6 papers · 2025

    Department of Medicine-DIMED, University of Padua, Padua PD, Italy.

    Papers in Europe PMC
  3. 03
    Wu VC6 papers · 2022

    Department of Internal Medicine, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.

    Papers in Europe PMC
  4. 04
    Gomez-Sanchez CE5 papers · 2024

    Division of Endocrinology, G.V. (Sonny) Montgomery VA Medical Center, Jackson, Mississippi.

    Papers in Europe PMC
  5. 05
    Mulatero P5 papers · 2025

    Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Turin, Turin, Italy.

    Papers in Europe PMC
  6. 06
    Vaidya 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
  7. 07
    Williams 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
  8. 08
    Auchus RJ4 papers · 2025

    Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, Ann Arbor, MI, USA.

    Papers in Europe PMC
  9. 09
    Faucz 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
  10. 10
    Peng 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 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.

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.

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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Familial hyperaldosteronism type I — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("CYP11B1" OR "CYP11B1 syndrome" OR "CYP11B1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (4157) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:44:21.095Z