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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta type 8

Osteogenesis imperfecta type 8

Synonyms
LEPRE1-Related Osteogenesis Imperfecta; OI type VIII; Osteogenesis Imperfecta Type VIII

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). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. [from OMIM]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GROS1, LEPRE1, OI8, P3H1
    Summary: prolyl 3-hydroxylase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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