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osteogenesis imperfecta type 15

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.
Uniprot Description An autosomal recessive 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. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.
Disease Ontology Description An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
Mondo Term and Equivalent IDs
MONDO:0014086:  osteogenesis imperfecta type 15
UMLS:C3808844: