ORPHA:85195
Familial expansile osteolysis
Also known as: Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,222
Trials
0
Interventional, condition-specific
Researchers
847
Distinct authors in sample
Gene link
TNFRSF11A
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, nature of the disease. Age of onset is variable, mode of inheritance is .
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008275
- MeSH:C536335
- OMIM:174810
- UMLS:C0432292
Additional Mondo synonyms (2)
familial expansile osteolysis · hereditary expansile polyostotic osteolytic dysplasia
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.”
3/6 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
Moderate — TNFRSF11A
- LiteraturePresent
4,222 matched papers (1,947 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Osteolysis; Premature loss of teeth; Conductive hearing impairment) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Probably — there is moderate evidence for TNFRSF11A.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
10
Associated phenotypes · MONDO:0008275
- Osteolysis
- Premature loss of teeth
- Conductive hearing impairment
- Hydroxyprolinuria
- Pathologic fracture
Showing 5 of 10 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
4,222
4,222 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.
4,222 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).
1,947 in the last 10 years · low confidence
Phrase hits: 187 · MeSH hits: 0
Who's working on it?
847
Distinct author names in 187 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.
- 01Ralston SH18 papers · 2021
Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK. stuart.ralston@ed.ac.uk
Papers in Europe PMC - 02Whyte MP13 papers · 2023
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63131, USA. mwhyte@shrinenet.org
Papers in Europe PMC - 03Van Hul W9 papers · 2021
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 04Mumm S7 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 - 05
- 06Alonso N4 papers · 2021
Rheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4, 2XU UK.
Papers in Europe PMC - 07Brandi ML4 papers · 2021
Department of Surgery and Translational Medicine (M.L.B.), University of Florence, Florence, Italy.
Papers in Europe PMC - 08Daroszewska A4 papers · 2010
Institute of Medical Sciences, University of Aberdeen Medical School, Aberdeen AB25 2ZD, UK.
Papers in Europe PMC - 09Helfrich MH4 papers · 2011
Bone and Musculoskeletal Research Programme, University of Aberdeen, Institute of Medical Sciences, School of Medicine and Dentistry, Foresterhill, Aberdeen AB25 2ZD, UK. m.helfrich@abdn.ac.uk
Papers in Europe PMC - 10Hughes AE4 papers · 2007
Department of Medical Genetics, Queen's University of Belfast, UK.
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 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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30
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 (1)
- isrctn·ISRCTN36453794·Recruiting·Chemotherapy for the treatment of recurrent and primary refractory Ewing sarcoma
skipped — LLM skipped (--skip-llm)
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 expansile osteolysis — check Associations / patient organisations on that page.
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 expansile osteolysis" OR "Hereditary expansile polyostotic osteolytic dysplasia" OR "McCabe disease") OR (MESH:"Polyostotic osteolytic dysplasia, hereditary expansile") OR ("TNFRSF11A" OR "TNFRSF11A syndrome" OR "TNFRSF11A-related")MeSH descriptor terms unioned into the query: Polyostotic osteolytic dysplasia, hereditary expansile
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial expansile osteolysis" OR "Hereditary expansile polyostotic osteolytic dysplasia" OR "McCabe disease" OR "Polyostotic osteolytic dysplasia, hereditary expansile"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (4222) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:49:20.981Z