ORPHA:85195
Familial expansile osteolysis
Also known as: Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
187
56.7th percentile
Trials
0
Interventional, condition-specific
Researchers
847
Distinct authors in sample
Gene link
TNFRSF11A
Moderate
Readiness
2/6
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.”
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
Moderate — TNFRSF11A
- LiteraturePresent
187 matched papers (59 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?
Probably — there is moderate evidence for TNFRSF11A.
GenCC classification: Moderate.
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?
187
187 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.
187 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).
59 in the last 10 years · high confidence · 56.7th percentile (publications denominator)
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 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.
high 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.
"Familial expansile osteolysis" OR "Hereditary expansile polyostotic osteolytic dysplasia" OR "McCabe disease"
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" OR "TNFRSF11A" OR "primary osteolysis"
Recall-expansion terms: TNFRSF11A, primary osteolysis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T02:49:20.981Z