RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:93372

Familial hypocalciuric hypercalcemia type 1

medium confidenceSubtype of disorder

Also known as: FHH type 1

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

8,349

95.2th percentile

Trials

0

Interventional, condition-specific

Researchers

836

Distinct authors in sample

Gene link

CASR

Definitive

Readiness

4/6

Stages with a signal

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

CASR familial hypocalciuric hypercalcemia · HHC1 · familial benign hypercalcemia 1 · familial hypocalciuric hypercalcemia caused by mutation in CASR · familial hypocalciuric hypercalcemia type 1 · hpocalciuric hypercalcemia, type I

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — CASR

  2. LiteraturePresent

    8,349 matched papers (5,768 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Hypercalciuria; Kidney stone; Pancreatitis) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (CASR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

8

Associated phenotypes · MONDO:0007791

  • Hypercalciuria
  • Kidney stone
  • Pancreatitis
  • Hypermagnesemia
  • Hypocalciuria

Showing 5 of 8 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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?

8,349

8,349 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.

8,349 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).

5,768 in the last 10 years · medium confidence · 95.2th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

836

Distinct author names in 121 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.

  1. 01
    Thakker RV15 papers · 2024

    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 FM10 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 CM8 papers · 2025

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

    Papers in Europe PMC
  4. 04
    Cranston T6 papers · 2023

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

    Papers in Europe PMC
  5. 05
    Boon H5 papers · 2023

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

    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
    Brandi ML4 papers · 2023

    Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University Hospital of Florence, University of Florence, Florence, Italy.

    Papers in Europe PMC
  8. 08
    Howles SA4 papers · 2024

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

    Papers in Europe PMC
  9. 09
    Nissen PH4 papers · 2018

    Department of Clinical Biochemistry Aarhus University Hospital Aarhus Denmark.

    Papers in Europe PMC
  10. 10
    Rejnmark L4 papers · 2022

    Department of Endocrinology and Internal Medicine Aarhus University Hospital Aarhus Denmark.

    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 1 — check Associations / patient organisations on that page.

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 1" OR "FHH type 1" OR "CASR familial hypocalciuric hypercalcemia" OR "familial benign hypercalcemia 1" OR "familial hypocalciuric hypercalcemia caused by mutation in CASR" OR "hpocalciuric hypercalcemia, type I") OR (MESH:"Hypocalciuric hypercalcemia, familial, type 1") OR ("CASR" OR "CASR syndrome" OR "CASR-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hypocalciuric hypercalcemia, familial, type 1

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial hypocalciuric hypercalcemia type 1" OR "FHH type 1" OR "CASR familial hypocalciuric hypercalcemia" OR "familial benign hypercalcemia 1" OR "familial hypocalciuric hypercalcemia caused by mutation in CASR" OR "hpocalciuric hypercalcemia, type I" OR "Hypocalciuric hypercalcemia, familial, type 1"

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: HHC1

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 2026-07-27T04:19:13.239Z