type 3 Osteogenesis imperfecta

An autosomal dominant form of osteogenesis imperfecta caused by mutations in the COL1A1 or COL1A2 genes. OMIM: 259420

Also Known As:

Osteogenesis imperfecta, type 3; OI, type 3 Osteogenesis imperfecta, type 3; OI, type III Osteogenesis imperfecta, type III; OI3 Osteogenesis imperfecta 3; Osteogenesis Imperfecta, Type III; Osteogenesis imperfecta, progressively deforming, with normal sclerae

Networked: 29 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Osteogenesis Imperfecta (Lobstein Disease)
2.	Brachydactyly
3.	Open Bite (Openbite)
4.	Intracranial Hemorrhages (Intracranial Hemorrhage)
5.	Respiratory Tract Infections (Respiratory Tract Infection)

Experts

1.	Celli, Mauro: 2 articles (07/2019 - 03/2019)
2.	D'Eufemia, Patrizia: 2 articles (07/2019 - 03/2019)
3.	Martini, Lorena: 2 articles (07/2019 - 03/2019)
4.	Persiani, Pietro: 2 articles (07/2019 - 03/2019)
5.	Ranaldi, Filippo Maria: 2 articles (07/2019 - 03/2019)
6.	Villani, Ciro: 2 articles (07/2019 - 03/2019)
7.	Zambrano, Anna: 2 articles (07/2019 - 03/2019)
8.	Amaral, Cristhiane: 1 article (10/2021)
9.	Arantes, Camila: 1 article (10/2021)
10.	Bellato, Caio: 1 article (10/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 3 Osteogenesis imperfecta:

1.	CollagenIBA 01/01/1988 - "Collagen studies in an osteogenesis imperfecta type III family." 06/01/2003 - "Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen." 06/01/1999 - "Mean standing height was reduced in all groups of patients, to the greatest extent and variability in osteogenesis imperfecta type III/IV and in those with qualitative collagen defects. " 07/01/1997 - "This report describes the histopathologic and electron-microscopic features of an eye from a patient with osteogenesis imperfecta type III. In particular, the diameters of corneal stromal and scleral collagen fibers were determined. " 07/01/1997 - "Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III."
2.	Diphosphonates (Bisphosphonates)IBA 05/25/2016 - "This is first study to look at bisphosphonate treatment for osteogenesis imperfecta type III in black South Africans. "
3.	Collagen Type I (Type I Collagen)IBA 12/15/1995 - "Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III." 02/01/1995 - "A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III." 01/01/1995 - "A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III." 01/01/1994 - "A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals." 07/01/1995 - "2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. "
4.	Growth Hormone (Somatotropin)IBA 10/01/1999 - "Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV." 08/01/2000 - "Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy."
5.	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/01/1996 - "The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. " 03/01/1996 - "The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. " 03/01/1996 - "Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen."
6.	CalciumIBA 10/01/1999 - "Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV." 08/01/2000 - "Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy."
7.	alpha2 Subunit Collagen Type IIBA 03/01/2009 - "Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2." 06/01/1993 - "Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible."
8.	Dexmedetomidine FDA Link 07/15/2017 - "Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report."
9.	AmberIBA 10/01/2021 - "An eighteen-year-old, male patient diagnosed with osteogenesis imperfecta type III was referred for dental evaluation; the clinical examination showed the craniofacial and oral changes of the disease such as triangular face, class III malocclusion, anterior open bite and posterior crossbite, dentinogenesis imperfecta presenting amber discoloration. "
10.	Valine (L-Valine)FDA Link 11/01/1996 - "The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. "

Therapies and Procedures

1.	Osteotomy 08/01/1995 - "A severe case of osteogenesis imperfecta type 3 is presented to illustrate the feasibility of bimaxillary surgery using a mandibular body step osteotomy and maxillary down grafting at the Le Fort I level. " 03/01/2019 - "Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III." 10/21/2019 - "After the diagnosis of osteogenesis imperfecta type III was established, bilateral surgical treatment with multiple osteotomies and intramedullary, flexible Titanium Elastic Nail System (TENS) nails was decided. " 07/15/2017 - "Combined Spinal-Epidural Anesthesia With Dexmedetomidine-Based Sedation for Multiple Corrective Osteotomies in a Child With Osteogenesis Imperfecta Type III: A Case Report."
2.	Catheters 11/01/2018 - "Odds of challenges are greater in severe osteogenesis imperfecta Type III, with significant blood loss and difficulty placing intravenous catheters more likely encountered in the more severe types."
3.	Therapeutics 08/01/2000 - "Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy."
4.	Positive-Pressure Respiration (Positive End-Expiratory Pressure) 02/01/2012 - "The development of acute respiratory failure (ARF) secondary to respiratory tract infection is a common event in patients affected with osteogenesis imperfecta type III. Noninvasive positive pressure ventilation (NPPV) is increasingly administered to treat severe ARF of various origin. "
5.	Intramedullary Fracture Fixation 07/01/2019 - "Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls."