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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 13

Osteogenesis imperfecta type 13

Synonyms
BMP1-Related Osteogenesis Imperfecta; OI, TYPE XIII; Osteogenesis imperfecta, type xiii

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 cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity. [from OMIM]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OI13, PCOLC, PCP, PCP2, TLD, BMP1
    Summary: bone morphogenetic protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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