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GTR Home > Conditions/Phenotypes > Hyperphosphatasemia with bone disease

Hyperphosphatasemia with bone disease

Synonyms
Hyperostosis corticalis deformans juvenilis; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; Osteoectasia familial; PAGET DISEASE OF BONE 5, JUVENILE-ONSET; Paget Disease, Juvenile; Paget disease of bone 5
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250. [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OCIF, OPG, PDB5, TR1, TNFRSF11B
    Summary: TNF receptor superfamily member 11b

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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