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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 10

Osteogenesis imperfecta type 10

Synonyms
OI, TYPE X; Osteogenesis Imperfecta Type X; SERPINH1-Related Osteogenesis Imperfecta

Summary

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010). [from OMIM]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46, SERPINH1
    Summary: serpin family H member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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