ORPHA:101050
Familial hypocalciuric hypercalcemia type 3
Also known as: FHH type 3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
778
85.3th percentile
Trials
0
Interventional, condition-specific
Researchers
369
Distinct authors in sample
Gene link
AP2S1
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010926
- MeSH:C537147
- OMIM:600740
- UMLS:C1833372
Additional Mondo synonyms (5)
AP2S1 familial hypocalciuric hypercalcemia · HHC3 · familial hypocalciuric hypercalcemia caused by mutation in AP2S1 · familial hypocalciuric hypercalcemia type 3 · hpocalciuric hypercalcemia, type III
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
Strong — AP2S1
- LiteraturePresent
778 matched papers (637 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Fatigue; Kidney stone; Multiple small medullary renal cysts) 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?
Yes — we know a specific gene responsible (AP2S1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0010926
- Fatigue
- Kidney stone
- Multiple small medullary renal cysts
- Peptic ulcer
- Renal insufficiency
Showing 5 of 19 — 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?
778
778 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.
778 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).
637 in the last 10 years · medium confidence · 85.3th percentile (publications denominator)
Phrase hits: 73 · MeSH hits: 0
Who's working on it?
369
Distinct author names in 73 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.
- 01Thakker RV15 papers · 2023
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK, rajesh.thakker@ndm.ox.ac.uk.
Papers in Europe PMC - 02Hannan FM11 papers · 2023
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 03Gorvin CM8 papers · 2025
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 04Rogers A5 papers · 2018
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 05Simonds WF5 papers · 2023
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 06Whyte MP5 papers · 2019
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri, USA.
Papers in Europe PMC - 07Nesbit MA4 papers · 2016
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 08Stewart M4 papers · 2021
Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Papers in Europe PMC - 09Teboul L4 papers · 2021
Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
Papers in Europe PMC - 10Wells S4 papers · 2021
Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Harwell Campus, Oxfordshire OX11 0RD, UK.
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 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.
medium 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 hypocalciuric hypercalcemia 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 hypocalciuric hypercalcemia
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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (1)
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 hypocalciuric hypercalcemia type 3 — 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.
("Familial hypocalciuric hypercalcemia type 3" OR "FHH type 3" OR "AP2S1 familial hypocalciuric hypercalcemia" OR "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" OR "hpocalciuric hypercalcemia, type III") OR (MESH:"Familial benign hypercalcemia, type 3") OR ("AP2S1" OR "AP2S1 syndrome" OR "AP2S1-related")MeSH descriptor terms unioned into the query: Familial benign hypercalcemia, type 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hypocalciuric hypercalcemia type 3" OR "FHH type 3" OR "AP2S1 familial hypocalciuric hypercalcemia" OR "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" OR "hpocalciuric hypercalcemia, type III" OR "Familial benign hypercalcemia, type 3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"familial hypocalciuric hypercalcemia"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HHC3
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 2026-07-27T07:14:58.168Z