ORPHA:101049
Familial hypocalciuric hypercalcemia type 2
Also known as: FHH type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,265
Trials
0
Interventional, condition-specific
Researchers
254
Distinct authors in sample
Gene link
GNA11
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:0007792
- MeSH:C537146
- OMIM:145981
- UMLS:C1840347
Additional Mondo synonyms (3)
HHC2 · familial hypocalciuric hypercalcemia type 2 · hpocalciuric hypercalcemia, type II
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 — GNA11
- LiteraturePresent
5,265 matched papers (3,717 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Parathormone-independent increased renal tubular calcium reabsorption; Chondrocalcinosis; Hypercalcemia) 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 (GNA11).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0007792
- Parathormone-independent increased renal tubular calcium reabsorption
- Chondrocalcinosis
- Hypercalcemia
- Pancreatitis
- Hypocalciuria
Showing 5 of 10 — 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?
5,265
5,265 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,265 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).
3,717 in the last 10 years · low confidence
Phrase hits: 54 · MeSH hits: 0
Who's working on it?
254
Distinct author names in 54 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 RV10 papers · 2023
Drug Discovery Biology, Monash Institute of Pharmaceutical Science, Monash University, Parkville, Australia (K.L., T.M.J., A.N.K.); Nuffield Department of Women's & Reproductive Health (F.M.H.) and Academic Endocrine Unit, Radcliffe Department of Clinical Medicine (F.M.H., R.V.T.), University of Oxford, Oxford, United Kingdom; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark (T.C.M., H.B.-O.); Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom (D.T.W.); Department of Pathophysiology and Allergy Research, Medical University of Vienna, Vienna, Austria (E.K.); Physiology, School of Medical Sciences and Bosch Institute (R.S.M.) and School of Life & Environmental Sciences, Charles Perkins Centre (A.D.C.), University of Sydney, Sydney, Australia; and School of Biosciences, Cardiff University, Cardiff, United Kingdom (D.R.).
Papers in Europe PMC - 02Hannan FM9 papers · 2023
Drug Discovery Biology, Monash Institute of Pharmaceutical Science, Monash University, Parkville, Australia (K.L., T.M.J., A.N.K.); Nuffield Department of Women's & Reproductive Health (F.M.H.) and Academic Endocrine Unit, Radcliffe Department of Clinical Medicine (F.M.H., R.V.T.), University of Oxford, Oxford, United Kingdom; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark (T.C.M., H.B.-O.); Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom (D.T.W.); Department of Pathophysiology and Allergy Research, Medical University of Vienna, Vienna, Austria (E.K.); Physiology, School of Medical Sciences and Bosch Institute (R.S.M.) and School of Life & Environmental Sciences, Charles Perkins Centre (A.D.C.), University of Sydney, Sydney, Australia; and School of Biosciences, Cardiff University, Cardiff, United Kingdom (D.R.).
Papers in Europe PMC - 03Gorvin CM6 papers · 2025
From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.
Papers in Europe PMC - 04Howles SA5 papers · 2023
From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.
Papers in Europe PMC - 05Nesbit MA5 papers · 2023
From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom, Biomedical Sciences Research Institute, Ulster University, Coleraine BT52 1SA, United Kingdom.
Papers in Europe PMC - 06Simonds 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 - 07Cranston T4 papers · 2023
Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.
Papers in Europe PMC - 08Babinsky VN3 papers · 2016
Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK.
Papers in Europe PMC - 09Rust N3 papers · 2016
Sir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom.
Papers in Europe PMC - 10Bastepe M2 papers · 2024
Endocrine UnitDepartment of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA bastepe@helix.mgh.harvard.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 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 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 61 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- isrctn·ISRCTN30974801·No longer recruiting·A study of patient records to assess a new classification system for intertrochanteric fractures
skipped — LLM skipped (--skip-llm)
- ctis·2026-526383-20-00·Authorised·B-HAPPI: Bipolar disorder and high-dose adjunctive pramipexole for anhedonic depression – a phase III, double-blind, randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524054-34-00·Authorised·An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of Salanersen (BIIB115) in Participants Aged 15-60 Years With Spinal Muscular Atrophy Who Are Either Treatment-Naïve or Have Previously Been Treated With Risdiplam
skipped — LLM skipped (--skip-llm)
- ctis·2025-524438-24-00·Authorised·A Phase 1/2 Open-Label, Single Ascending Dose, First-In-Human Study to Assess Safety and Tolerability of Endoscopic Ultrasound-Guided Pancreatic Infusion of RJVA-001 in Adults With Inadequately Controlled Type 2 Diabetes on Multiple Glucose-Lowering Agents.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521142-22-00·Authorised, recruiting·A Phase 3 Trial to Evaluate the Long-Term Safety and Efficacy of Navenibart in Participants with Hereditary Angioedema – ORBIT-EXPANSE
skipped — LLM skipped (--skip-llm)
- ctis·2025-520800-81-00·Authorised·THE EFFECT OF ROPINIROLE ON FUNCTIONAL CONNECTIVITY AND METACOGNITION IN HEALTHY SUBJECTS
skipped — LLM skipped (--skip-llm)
- ctis·2024-519832-17-00·Cancelled·Perineural incobotulinumtoxin-A for Complex Regional Pain Syndrome - An open-label feasibility study (PINCom)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521660-35-00·Expired·A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Navenibart in Participants with Hereditary Angioedema - ALPHA-ORBIT
skipped — LLM skipped (--skip-llm)
- ctis·2024-515598-82-00·Authorised, recruiting·A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-520230-29-00·Cancelled·A study to test how insulin NNC0471-0119 works in the body in participants with type 2 diabetes when given by an insulin pump.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520212-18-00·Cancelled·A single-dose, open-label, randomized, two-period, two-sequence, crossover pivotal bioequivalence study on Dapagliflozin 10 mg film-coated tablets (Polfa Tarchomin S.A., Poland) versus Froxiga 10 mg film-coated tablets (AstraZeneca AB, Sweden) in healthy volunteers under fasting conditions.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511828-14-00·Authorised, ongoing·A Multi-Centre, Randomised, Double-Blind, Placebo-Controlled Trial of the Safety and Efficacy of the Oral NLRP3 Inhibitor Dapansutrile in Subjects with Type 2 Diabetes Mellitus
Dapan-Dia Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518269-92-00·Authorised·Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme
skipped — LLM skipped (--skip-llm)
- ctis·2023-506540-16-01·Expired·A Phase 2 Long-Term Open-Label Trial to Assess the Safety and Efficacy of Repeat Dosing of STAR-0215 in Adult Patients with Hereditary Angioedema (The ALPHA-SOLAR Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-510990-21-00·Authorised, ongoing·A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II
skipped — LLM skipped (--skip-llm)
- ctis·2024-518915-20-00·Cancelled·Intraclass safety and efficacy comparison among SGLT-2 inhibitors in elderly patients with type 2 diabetes. A pragmatic, phase IV, multicenter, open-label, randomised controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517360-37-00·Cancelled·A study investigating the effect of different approved medications on how the body processes the study compound RO7795081. RO7795081 is a new compound that may potentially be used in the treatment of type 2 diabetes and weight control.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517300-10-01·Authorised, ongoing·Preventive HIPEC in combination with perioperative FLOT versus FLOT alone for resectable diffuse type gastric and
gastroesophageal junction Type II/III adenocarcinoma – The phase III “PREVENT” trial of the AIO /CAOGI /ACO
skipped — LLM skipped (--skip-llm)
- ctis·2024-516647-79-00·Authorised, ongoing·Pain medication tapering for chronic low back pain patients, treated with an intervention focusing on pain relief for axial problems.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518215-18-00·Authorised, ongoing·An open-label, single-center, exploratory study of the safety and efficacy of avalglucosidase alfa in patients with non-classic Pompe disease aged ≥ 5 years.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515626-92-00·Authorised, ongoing·MEMMAT - Medulloblastoma European Multitarget Metronomic Anti-Angiogenic Trial - A Phase II study of metronomic and targeted anti-angiogenesis therapy for children with recurrent/progressive medulloblastoma, ependymoma, ATRT and rare CNS tumors
skipped — LLM skipped (--skip-llm)
- ctis·2023-509303-32-00·Authorised, recruiting·Phase 1/2 Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults with Late-Onset Pompe Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-516228-33-00·Authorised, ongoing·A multicenter, register-based, randomized, controlled trial comparing dapagliflozin with metformin treatment in early stage type 2 diabetes patients by assessing mortality and macro- and microvascular complications
skipped — LLM skipped (--skip-llm)
- ctis·2023-506761-65-00·Expired·A Two-Part, Seamless, Multi-Center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7204239 in Combination With Risdiplam (RO7034067) in Patients With Spinal Muscular Atrophy
skipped — LLM skipped (--skip-llm)
- ctis·2023-507591-44-00·Cancelled·Open-Label Safety, Pharmacokinetic, and Efficacy Trial of Sebetralstat (KVD900) in Pediatric Patients (Ages 2-11) with Hereditary Angioedema Type I or II
skipped — LLM skipped (--skip-llm)
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 2 — 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 2" OR "FHH type 2" OR "hpocalciuric hypercalcemia, type II") OR (MESH:"Hypocalciuric hypercalcemia, familial, type 2") OR ("GNA11" OR "GNA11 syndrome" OR "GNA11-related")MeSH descriptor terms unioned into the query: Hypocalciuric hypercalcemia, familial, type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hypocalciuric hypercalcemia type 2" OR "FHH type 2" OR "hpocalciuric hypercalcemia, type II" OR "Hypocalciuric hypercalcemia, familial, type 2"
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: HHC2
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
- Publication count (5265) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T07:14:47.262Z