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ORPHA:428

Autosomal dominant hypocalcemia

high confidenceSubtype of disorder

Also known as: AD hypocalcemia

Publications

519

77.7th percentile

Trials

6

Interventional, condition-specific

Researchers

845

Distinct authors in sample

Gene link

—

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    519 matched papers (331 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Postnatal growth retardation; Hypocalcemia; Basal ganglia calcification) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Encaleret sulfate Source

  6. 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)

55

Associated phenotypes · MONDO:0018543

  • Postnatal growth retardation
  • Hypocalcemia
  • Basal ganglia calcification
  • Paresthesia
  • Muscle spasm

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA Encaleret sulfateAutosomal dominant hypocalcemia · 2020-11-24 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0018543

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

519 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).

331 in the last 10 years · high confidence · 77.7th percentile (publications denominator)

Phrase hits: 519 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Thakker 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
  2. 02
    Hannan 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
  3. 03
    Gorvin CM9 papers · 2025

    Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.

    Papers in Europe PMC
  4. 04
    Levine 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
  5. 05
    Nemeth EF6 papers · 2025

    MetisMedica, 13 Poplar Plains Road, Toronto, ON, M4V 2M7, Canada. nemeth.ed@gmail.com.

    Papers in Europe PMC
  6. 06
    Lines 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
  7. 07
    Mannstadt M5 papers · 2026

    Harvard/MGH , Boston, MA ,

    Papers in Europe PMC
  8. 08
    Stevenson 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
  9. 09
    Collins 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
  10. 10
    Dimke 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 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

high confidence · 90.1th 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.

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.

Open the complete matched search on ClinicalTrials.gov

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 27 · after dedupe 27 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 27 · dropped 0 · fetched 2026-07-29

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 (27)

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 Autosomal dominant hypocalcemia — 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.

"Autosomal dominant hypocalcemia" OR "AD hypocalcemia" OR "hypocalcemia, autosomal dominant"

Run this search on Europe PMC

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