ORPHA:405
Familial hypocalciuric hypercalcemia
Also known as: FBH · FBHH · FHH · Familial benign hypercalcemia · Familial benign hypocalciuric hypercalcemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,388
Trials
0
Interventional, condition-specific
Researchers
914
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018458
- UMLS:C1809471
- NCIT:C123262
Additional Mondo synonyms (2)
familial benign hypercalcemia · familial benign hypocalciuric hypercalcemia
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,388 matched papers (780 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1,388
1,388 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=5449) is 41.
1,388 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).
780 in the last 10 years · low confidence
Phrase hits: 1,388 · MeSH hits: 0
Who's working on it?
914
Distinct author names in 200 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.
- 01Gorvin CM5 papers · 2025
Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, West Midlands, UK.
Papers in Europe PMC - 02Thakker RV5 papers · 2024
Nuffield Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, OX3 7LJ, UK.
Papers in Europe PMC - 03Cuny T3 papers · 2024
Aix Marseille Univ, APHM, Department of Endocrinology, Conception University Hospital, Marseille, France.
Papers in Europe PMC - 04Jensen AA3 papers · 2025
Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen Ø, Denmark.
Papers in Europe PMC - 05Romanet P3 papers · 2024
Aix Marseille Univ, APHM, Marseille Medical Genetics, Inserm U1251, Laboratory of Molecular Biology Conception University Hospital, Marseille, France.
Papers in Europe PMC - 06Sebag F3 papers · 2024
Aix Marseille Univ, APHM, Department of Endocrine Surgery, Conception University Hospital, Marseille, France.
Papers in Europe PMC - 07Taïeb D3 papers · 2024
Aix Marseille Univ, APHM, Department of Nuclear Medicine, La Timone University Hospital, Marseille, France. david.taieb@ap-hm.fr.
Papers in Europe PMC - 08Wang X3 papers · 2025
Division of Pulmonary and Critical Care Medicine, Oregon Health and Science University, Portland, Oregon, United States of America.
Papers in Europe PMC - 09Antony MA2 papers · 2023
Endocrinology, Diabetes and Metabolism, Medical University of South Carolina, Anderson, USA.
Papers in Europe PMC - 10Aulinas A2 papers · 2024
Department of Endocrinology and Nutrition, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. aaulinas@santpau.cat.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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" OR "Familial benign hypercalcemia" OR "Familial benign hypocalciuric hypercalcemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial hypocalciuric hypercalcemia" OR "Familial benign hypercalcemia" OR "Familial benign hypocalciuric hypercalcemia" OR "hypercalcemia disease"
Recall-expansion terms: hypercalcemia disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FBH; FBHH; FHH
Confidence reasoning
- Preferred label is multi-word and distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1388) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:44:50.213Z