U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Familial expansile osteolysis

Familial expansile osteolysis

Synonyms
Mccabe disease; Polyostotic osteolytic dysplasia, hereditary expansile
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD265, FEO, LOH18CR1, ODFR, OFE, OPTB7, OSTS, PDB2, RANK, TRANCE-R, TRANCER, TNFRSF11A
    Summary: TNF receptor superfamily member 11a

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.