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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

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 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

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Imported from Human Phenotype Ontology (HPO)

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