GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta

Summary

Excerpted from the GeneReview: COL1A1/2-Related Osteogenesis Imperfecta
COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Genes See tests for all associated and related genes

  • Also known as: EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

  • Also known as: EDSARTH2, EDSCV, OI4, COL1A2
    Summary: collagen type I alpha 2 chain

Practice guidelines

  • EMQN, 2012
    EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
  • Orphanet, 2008
    Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2006
    Genetic evaluation of suspected osteogenesis imperfecta (OI)

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