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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 15

Osteogenesis imperfecta type 15

Synonyms
OI, TYPE XV; Osteogenesis imperfecta, type xv; WNT1-related osteogenesis imperfecta

Summary

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients. [from OMIM]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMND16, INT1, OI15, WNT1
    Summary: Wnt family member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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