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familial expansile osteolysis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial expansile osteolysis

MONDO:0008275

Also known as:McCabe diseasehereditary expansile polyostotic osteolytic dysplasiaEOF

Overview

GeneticsAutosomal dominant · TNFRSF11A (chr 18)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Conductive hearing impairment; and common findings: Osteolysis. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Bone pain, Bowing of the long bones, Pathologic fracture

Genetic Landscape

TNFRSF11A function has not been fully characterized.

Familial expansile osteolysis is associated with mutations in the TNFRSF11A gene on chromosome 18.

Diagnosis

Genetic testing for TNFRSF11A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial expansile osteolysis.

1 publication has been identified in PubMed for familial expansile osteolysis. Research spans Case Report / Case Series (100%).

Recent Publications

Lennon S (2025). [PMID: 41264685](https://pubmed.ncbi.nlm.nih.gov/41264685/). *JBJS case connector*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:174810

Orphanet

European rare disease database

Orphanet:85195

GARD

Genetic and Rare Diseases Info Center

GARD:9168

Questions for Your Care Team

→Should I pursue genetic testing for TNFRSF11A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial expansile osteolysis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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