Osteogenesis Imperfecta, Type I

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OMIM 53 166200 Disease Ontology 12 DOID:0110334 ICD10 32 Q78.0 Orphanet 55 ORPHA216796

ICD10 via Orphanet 33 Q78.0 MedGen 39 C0023931 C2674706 MeSH 41 D010013 SNOMED-CT via HPO 65 263681008 11543004 103276001 15188001 343087000 95828007 204164000 196286005 312894000 78441005 277797007 302227002 424131007 425075004 77643000 298181000 409712001 8074002 113194005 134291007 5468008 67362008 more

NIH Rare Diseases : ⁴⁹ Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance. Last updated: 12/2/2015

MalaCards based summary : Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to osteogenesis imperfecta, type viii and osteogenesis imperfecta, type v, and has symptoms including osteopenia, hearing impairment and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include bone, eye and skin, and related phenotypes are cardiovascular system and growth/size/body region

OMIM : ⁵³ Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. In most cases, 'functional null' alleles of COL1A1 on chromosome 17 or COL1A2 on chromosome 7 lead to reduced amounts of normal collagen I. (166200)

UniProtKB/Swiss-Prot : ⁷¹ Osteogenesis imperfecta 1: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.

Disease Ontology : ¹² An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Clinical features from OMIM:

166200

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type I.