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ORPHA:101049

Familial hypocalciuric hypercalcemia type 2

medium confidenceSubtype of disorder

Also known as: FHH type 2

Publications

54

50.8th percentile

Trials

2

Interventional, condition-specific

Researchers

254

Distinct authors in sample

Gene link

GNA11

Strong

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — GNA11

  2. LiteraturePresent

    54 matched papers (43 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 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 (GNA11).

GenCC classification: Strong.

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?

54

54 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.

54 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).

43 in the last 10 years · medium confidence · 50.8th percentile (publications denominator)

Phrase hits: 54 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

254

Distinct author names in 54 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.

  1. 01
    Thakker 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
  2. 02
    Hannan 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
  3. 03
    Gorvin CM6 papers · 2025

    From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  4. 04
    Howles SA5 papers · 2023

    From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  5. 05
    Nesbit 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
  6. 06
    Simonds 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
  7. 07
    Cranston T4 papers · 2023

    Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.

    Papers in Europe PMC
  8. 08
    Babinsky VN3 papers · 2016

    Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  9. 09
    Rust N3 papers · 2016

    Sir William Dunn School of Pathology, University of Oxford, Oxford OX1 3RE, United Kingdom.

    Papers in Europe PMC
  10. 10
    Bastepe 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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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 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.

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 2026-07-26

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 hypocalciuric hypercalcemia type 2" OR "FHH type 2" OR "hpocalciuric hypercalcemia, type II"

Run this search on Europe PMC

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" OR "GNA11"

Recall-expansion terms: GNA11

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"familial hypocalciuric hypercalcemia"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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

Ingested 2026-07-27T07:14:47.262Z