ORPHA:428
Autosomal dominant hypocalcemia
Also known as: AD hypocalcemia
Publications
519
86.1th percentile
Trials
6
Interventional, condition-specific
Researchers
845
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with disproportionately low/normal levels of parathyroid hormone (PTH) and persistent normal or elevated renal calcium excretion.
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:0018543
- UMLS:C4048195
Additional Mondo synonyms (1)
hypocalcemia, autosomal dominant
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
519 matched papers (331 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
6 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?
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?
519
519 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.
519 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).
331 in the last 10 years · high confidence · 86.1th percentile (publications denominator)
Phrase hits: 519 · MeSH hits: 0
Who's working on it?
845
Distinct author names in 200 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 RV12 papers · 2026
Academic Endocrine Unit, Nuffield Department of Clinical Medicine (M.A.N., F.M.H., S.A.H., V.N.B., R.A.H., R.V.T.), and Sir William Dunn School of Pathology (N.R.), University of Oxford, and the Oxford Molecular Genetics Laboratory, Churchill Hospital (T.C.) - all in Oxford, United Kingdom; Core Research Facilities, University of Utah, Salt Lake City (M.R.H.); and Indiana University School of Medicine, Indianapolis (H.H.).
Papers in Europe PMC - 02Hannan FM11 papers · 2026
Academic Endocrine Unit, Nuffield Department of Clinical Medicine (M.A.N., F.M.H., S.A.H., V.N.B., R.A.H., R.V.T.), and Sir William Dunn School of Pathology (N.R.), University of Oxford, and the Oxford Molecular Genetics Laboratory, Churchill Hospital (T.C.) - all in Oxford, United Kingdom; Core Research Facilities, University of Utah, Salt Lake City (M.R.H.); and Indiana University School of Medicine, Indianapolis (H.H.).
Papers in Europe PMC - 03Gorvin CM9 papers · 2025
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Papers in Europe PMC - 04Levine MA6 papers · 2025
Division of Endocrinology and Diabetes, The Center for Bone Health, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Abramson Research Building, Room 510A, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 05Nemeth EF6 papers · 2025
MetisMedica, 13 Poplar Plains Road, Toronto, ON, M4V 2M7, Canada. nemeth.ed@gmail.com.
Papers in Europe PMC - 06Lines KE5 papers · 2026
Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Oxford, UK.
Papers in Europe PMC - 07
- 08Stevenson M5 papers · 2026
Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford OX3 7LJ, UK.
Papers in Europe PMC - 09Collins MT4 papers · 2023
Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 10Dimke H4 papers · 2024
Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense 5000, Denmark.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
high confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07080385·RECRUITING·Pharmacokinetics, Efficacy, and Safety of Encaleret in Pediatric Participants With Autosomal Dominant Hypocalcemia Type 1 (ADH1)
Conditions: Autosomal Dominant Hypocalcemia Type 1 (ADH1)·Matched via name phrase
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.
"Autosomal dominant hypocalcemia" OR "AD hypocalcemia" OR "hypocalcemia, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant hypocalcemia" OR "AD hypocalcemia" OR "hypocalcemia, autosomal dominant"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:48:56.625Z