Osteogenesis Imperfecta, Type I malady

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OMIM52 166200 Disease Ontology11 DOID:0110334 ICD1030 Q78.0 Orphanet54 ORPHA216796

ICD10 via Orphanet31 Q78.0 MedGen37 C0023931, C2674706 MeSH39 D010013

NIH Rare Diseases:⁴⁸ 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 i, is related to osteogenesis imperfecta, type iv and classic non-deforming osteogenesis imperfecta with blue sclerae, and has symptoms including otosclerosis, hearing impairment and blue sclerae. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways are Protein digestion and absorption and IL4-mediated signaling events. Affiliated tissues include bone, eye and skin, and related mouse phenotype muscle.

Disease Ontology:¹¹ 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.

UniProtKB/Swiss-Prot:⁷⁰ 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.

OMIM:⁵² Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly... (166200) more...

Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type I according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.3	CD36, COL1A1, COL1A2, PEPD

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