ORPHA:251274
Familial hyperaldosteronism type III
Also known as: FH-III · FH3 · Familial hyperaldosteronism type 3
Publications
198
69.2th percentile
Trials
1
Interventional, condition-specific
Researchers
1,057
Distinct authors in sample
Gene link
KCNJ5
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non- glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013359
- OMIM:613677
- UMLS:C3838758
Additional Mondo synonyms (1)
familial hyperaldosteronism type 3
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — KCNJ5
- LiteraturePresent
198 matched papers (118 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 trialPresent
1 matched on ClinicalTrials.gov
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 (KCNJ5).
GenCC classification: Definitive.
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?
198
198 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
198 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).
118 in the last 10 years · medium confidence · 69.2th percentile (publications denominator)
Phrase hits: 198 · MeSH hits: 0
Who's working on it?
1,057
Distinct author names in 198 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Gomez-Sanchez CE15 papers · 2021
From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., I.G.-D., L.A., T.M., S.B., M.-C.Z.); Université Paris Descartes, Sorbonne Paris Cité, Paris, France (F.L.F.-R., I.G.-D., L.A., T.M., S.B., M.-C.Z.); Service de Génétique (F.L.F.-R., M.-C.Z.), Unité Hypertension artérielle (L.A.), and Service d'Anatomie Pathologique (T.M.), Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; and Division of Endocrinology, G.V. (Sonny) Montgomery VA Medical Center and University of Mississippi Medical Center, Jackson, MS (C.E.G.-S.).
Papers in Europe PMC - 02Williams TA15 papers · 2026
Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München.
Papers in Europe PMC - 03Mulatero P14 papers · 2025
Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, Torino, Italy.
Papers in Europe PMC - 04Monticone S12 papers · 2020
Hypertension Unit, Division of Internal Medicine, Department of Medical Sciences, University of Turin, Italy.
Papers in Europe PMC - 05Stratakis CA12 papers · 2022
Section on Endocrinology and Genetics & Inter-Institute Endocrinology Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD, 20892, USA. stratakc@mail.nih.gov.
Papers in Europe PMC - 06Rainey WE10 papers · 2022
Department of Molecular and Integrative Physiology (K.N., W.E.R.), University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 07Zennaro MC9 papers · 2020
From the PARCC, INSERM, Université de Paris, France (K.D.S., S. Boulkroun, A.R., I.G.-D., L.A., F.L.F.-R., M.-C.Z.).
Papers in Europe PMC - 08Boulkroun S7 papers · 2020
From the PARCC, INSERM, Université de Paris, France (K.D.S., S. Boulkroun, A.R., I.G.-D., L.A., F.L.F.-R., M.-C.Z.).
Papers in Europe PMC - 09Gomez-Sanchez EP7 papers · 2018
Department of Pharmacology and Toxicology, University of Mississippi Medical Center, Jackson, MS, USA.
Papers in Europe PMC - 10Reincke M7 papers · 2026
Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
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 III" OR "FH-III" OR "Familial hyperaldosteronism type 3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hyperaldosteronism type III" OR "FH-III" OR "Familial hyperaldosteronism type 3" OR "KCNJ5"
Recall-expansion terms: KCNJ5
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"familial hyperaldosteronism"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FH3
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:43:13.017Z