ORPHA:2801
Juvenile Paget disease
Also known as: Familial osteoectasia · Hereditary hyperphosphatasia · Hyperostosis corticalis deformans juvenilis · JPG
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
219
63.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,111
Distinct authors in sample
Gene link
TNFRSF11B
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009394
- MeSH:C537701
- OMIM:239000
- UMLS:C0268414
- NCIT:C131861
Additional Mondo synonyms (7)
Hereditary Hyperphosphatasia · familial hyperphosphatasia · familial osteoectasia · hereditary hyperphosphatasia · hyperostosis corticalis deformans juvenilis · juvenile Paget disease · juvenile Paget's disease
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — TNFRSF11B
- LiteraturePresent
219 matched papers (86 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?
Yes — we know a specific gene responsible (TNFRSF11B).
GenCC classification: Strong.
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?
219
219 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.
219 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).
86 in the last 10 years · medium confidence · 63.9th percentile (publications denominator)
Phrase hits: 219 · MeSH hits: 0
Who's working on it?
1,111
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.
- 01Whyte MP12 papers · 2023
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, 63110, USA.
Papers in Europe PMC - 02Mumm S9 papers · 2023
Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, Missouri; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, Missouri.
Papers in Europe PMC - 03Cundy T8 papers · 2025
Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. t.cundy@auckland.ac.nz
Papers in Europe PMC - 04McAlister WH7 papers · 2020
Department of Pediatric Radiology, Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA,. Electronic address: mcalisterw@mir.wustl.edu.
Papers in Europe PMC - 05Polyzos SA7 papers · 2025
Department of Endocrinology, Ippokration General Hospital, 13 Simou Lianidi, Thessaloniki, Greece. stergios@endo.gr
Papers in Europe PMC - 06Chong W6 papers
Australian School of Advanced Medicine, Macquarie University, Sydney, Australia Neurosurgery Department, Jikei University School of Medicine, Tokyo, Japan Centre for Advanced Biomedical Science, Tokyo, Japan - Email:
Papers in Europe PMC - 07Van Hul W6 papers · 2023
Department of Medical Genetics, University of Antwerp , Antwerp, Belgium .
Papers in Europe PMC - 08Anastasilakis AD4 papers · 2019
Department of Endocrinology, 424 General Military Hospital, Thessaloniki, Greece.
Papers in Europe PMC - 09Grasemann C4 papers · 2021
Pediatric Endocrinology and Diabetology, Klinik für Kinderheilkunde II and.
Papers in Europe PMC - 10Jiarakongmun P4 papers
Australian School of Advanced Medicine, Macquarie University, Sydney, Australia Neurosurgery Department, Jikei University School of Medicine, Tokyo, Japan Centre for Advanced Biomedical Science, Tokyo, Japan - Email:
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).
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.
medium 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.
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.
"Juvenile Paget disease" OR "Familial osteoectasia" OR "Hereditary hyperphosphatasia" OR "Hyperostosis corticalis deformans juvenilis" OR "familial hyperphosphatasia" OR "juvenile Paget's disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Juvenile Paget disease" OR "Familial osteoectasia" OR "Hereditary hyperphosphatasia" OR "Hyperostosis corticalis deformans juvenilis" OR "familial hyperphosphatasia" OR "juvenile Paget's disease" OR "TNFRSF11B"
Recall-expansion terms: TNFRSF11B
Study-type breakdown: 0 interventional · 0 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: JPG
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 2026-07-26T21:15:03.256Z