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ORPHA:2238

Familial isolated hypoparathyroidism

high confidenceDisorder

Publications

111

50.2th percentile

Trials

0

Interventional, condition-specific

Researchers

621

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare heterogeneous group of disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Familial Isolated Hypoparathyroidism · familial isolated hypoparathyroidism · hypoparathyroidism familial isolated · hypoparathyroidism, familial · hypoparathyroidism, familial isolated

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    111 matched papers (60 in last 10 years) Source

  3. Phenotype characterisedPresent

    101 HPO annotations (e.g. Nephrocalcinosis; Hypocalcemic seizures; Decreased circulating parathyroid hormone level) Source

  4. Animal modelPresent

    4 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 trialPartial

    None under the specific name; 79 for broader category hypoparathyroidism

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)

101

Associated phenotypes · MONDO:0016390

  • Nephrocalcinosis
  • Hypocalcemic seizures
  • Decreased circulating parathyroid hormone level
  • Tetany
  • Hypoparathyroidism

Showing 5 of 101 — 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)

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)

2 associated chemicals · 11 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • alfacalcidol · therapeutic
  • Calcium Carbonate · therapeutic

Pathways: NOD-like receptor signaling pathway; Signal Transduction; Signaling by GPCR; Class B/2 (Secretin family receptors); GPCR downstream signaling; G alpha (q) signalling events; G alpha (s) signalling events; G alpha (i) signalling events

MyDisease.info · MONDO:0016390

Literature

Is anyone studying this?

111

111 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=3967) is 59.

111 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).

60 in the last 10 years · high confidence · 50.2th percentile (publications denominator)

Phrase hits: 111 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

621

Distinct author names in 111 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
    Levine MA7 papers · 2022

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  2. 02
    Thakker RV5 papers · 2024

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  3. 03
    Jüppner H4 papers · 2016

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  4. 04
    Bilezikian JP3 papers · 2016

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  5. 05
    Canaff L3 papers · 2022

    Experimental Therapeutics and Metabolism, McGill University Health Centre-Research Institute, Departments of Medicine, Physiology, and Human Genetics, McGill University Montréal, QC, Canada.

    Papers in Europe PMC
  6. 06
    Finno CJ3 papers · 2023

    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA.

    Papers in Europe PMC
  7. 07
    Goltzman D3 papers · 2022

    Calcium Research Laboratory, Metabolic Disorders and Complications Program, Research Institute of the McGill University Health Centre, Montreal, Canada.

    Papers in Europe PMC
  8. 08
    Hendy GN3 papers · 2017

    Experimental Therapeutics and Metabolism, McGill University Health Centre-Research Institute, Departments of Medicine, Physiology, and Human Genetics, McGill University Montréal, QC, Canada.

    Papers in Europe PMC
  9. 09
    Jiang Y3 papers · 2025

    Department of Endocrinology, Key Laboratory of National health commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.

    Papers in Europe PMC
  10. 10
    Kronenberg HM3 papers · 1995
    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). 79 trials are registered for hypoparathyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

79 interventional trials matched hypoparathyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hypoparathyroidism

79

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)

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 isolated hypoparathyroidism — 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 isolated hypoparathyroidism" OR "hypoparathyroidism familial isolated" OR "hypoparathyroidism, familial" OR "hypoparathyroidism, familial isolated"

Run this search on Europe PMC

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

"Familial isolated hypoparathyroidism" OR "hypoparathyroidism familial isolated" OR "hypoparathyroidism, familial" OR "hypoparathyroidism, familial isolated"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hypoparathyroidism"

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 2026-07-26T19:33:16.966Z