ORPHA:93372
Familial hypocalciuric hypercalcemia type 1
Also known as: FHH type 1
Publications
121
66.8th percentile
Trials
1
Interventional, condition-specific
Researchers
836
Distinct authors in sample
Gene link
CASR
Definitive
Readiness
3/6
Stages with a signal
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007791
- MeSH:C537145
- OMIM:145980
- UMLS:C0342637
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CASR
- LiteraturePresent
121 matched papers (103 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
121
121 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.
121 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).
103 in the last 10 years · medium confidence · 66.8th percentile (publications denominator)
Phrase hits: 121 · MeSH hits: 0
Who's working on it?
836
Distinct author names in 121 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.
- 01Thakker 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 - 02Hannan 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 - 03Gorvin CM8 papers · 2025
From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.
Papers in Europe PMC - 04Cranston T6 papers · 2023
Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.
Papers in Europe PMC - 05Boon H5 papers · 2023
Oxford Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.
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 - 07Brandi 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 - 08Howles SA4 papers · 2024
From the Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LJ, United Kingdom.
Papers in Europe PMC - 09Nissen PH4 papers · 2018
Department of Clinical Biochemistry Aarhus University Hospital Aarhus Denmark.
Papers in Europe PMC - 10Rejnmark 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06853340·RECRUITING·Impact of Vascular Calcification and CASR Expression by Monocytes in Septic Shock
Conditions: Septic Shock · Calcium Sensing Receptor · Calcium Phosphate Disorders · Inflammation·Matched via recall expansion
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.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 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"
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" OR "CASR"
Recall-expansion terms: CASR
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: 1 interventional · 2 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: 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