ORPHA:404
Familial hyperaldosteronism type II
Also known as: FH-II · FH2 · Familial hyperaldosteronism type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
612
87.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,137
Distinct authors in sample
Gene link
CLCN2
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, non-glucocorticoid remediable hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA) and increased aldosterone-to-renin ratio.
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:0011576
- MeSH:C565312
- OMIM:605635
- UMLS:C1854107
- NCIT:C127162
Additional Mondo synonyms (2)
familial adrenal adenoma · familial hyperaldosteronism type 2
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
Moderate — CLCN2
- LiteraturePresent
612 matched papers (377 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?
Probably — there is moderate evidence for CLCN2.
GenCC classification: Moderate.
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?
612
612 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.
612 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).
377 in the last 10 years · medium confidence · 87.5th percentile (publications denominator)
Phrase hits: 612 · MeSH hits: 0
Who's working on it?
1,137
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.
- 01Stowasser M17 papers · 2025
University of Queensland Department of Medicine, Greenslopes Hospital, Brisbane, Australia.
Papers in Europe PMC - 02Gordon RD15 papers · 2019
Endocrine Hypertension Research Centre, University of Queensland School of Medicine, Greenslopes and Princess Alexandria Hospitals, Brisbane, Australia.
Papers in Europe PMC - 03Stratakis CA13 papers · 2026
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.
Papers in Europe PMC - 04Torpy DJ6 papers · 2017
National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Papers in Europe PMC - 05Faucz FR5 papers · 2026
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 - 06Reincke M5 papers · 2025
Medizinische Klinik und Poliklinik IV, Ludwig Maximilian University, Munich, Germany.
Papers in Europe PMC - 07Scholl UI5 papers · 2022
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Germany.
Papers in Europe PMC - 08So A5 papers · 2008
Endocrine Hypertension Research Centre, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia.
Papers in Europe PMC - 09Wang J5 papers · 2026
Department of Hematology, Beijing Friendship Hospital, Capital Medical University, 95 Yong An Road, Xicheng District, Beijing, 100050, China.
Papers in Europe PMC - 10Else T4 papers · 2020
Department of Internal Medicine, Division of Metabolism, Endocrinology & Diabetes, University of Michigan, 1150 West Medical Center Drive, Ann Arbor, MI, 48109, USA. telse@umich.edu.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 II" OR "FH-II" OR "Familial hyperaldosteronism type 2" OR "familial adrenal adenoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hyperaldosteronism type II" OR "FH-II" OR "Familial hyperaldosteronism type 2" OR "familial adrenal adenoma" OR "CLCN2"
Recall-expansion terms: CLCN2
Study-type breakdown: 0 interventional · 0 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: FH2
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 2026-07-26T13:44:41.886Z