Osteogenesis Imperfecta, Type VIII

Alternative Names

  • OI8
  • OI, Type VIII

Associated Genes

Prolyl 3-Hydroxylase 1
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

610915

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p34.2

Description

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, a classification of OI subtypes based on clinical features and disease severity has been developed: OI type I, with blue sclerae; perinatal lethal OI type II, also known as congenital OI; OI type III, a progressively deforming form with normal sclerae; and OI type IV, with normal sclerae. Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1  and COL1A2. OI8 is caused by homozygous or compound heterozygous mutation in the LEPRE1 gene on chromosome 1p32. [From OMIM]

Epidemiology in the Arab World

View Map
© CAGS 2025. All rights reserved.