type 2A Osteogenesis imperfecta

A severe form of osteogenesis imperfecta that is characterized by broad and short long bones and beaded ribs. Respiratory insufficiency usually results in death during the perinatal period. It is associated with mutations in the COL1A2 or COL1A1 genes. OMIM: 166210

Also Known As:

Osteogenesis imperfecta, type 2A; OI, type 2A Osteogenesis imperfecta, type 2A; OI, type IIA Osteogenesis imperfecta, type IIA; OI2A Osteogenesis imperfecta 2A; Osteogenesis Imperfecta, Type IIA; Osteogenesis imperfecta congenita; Osteogenesis imperfecta congenita, perinatal lethal form; Vrolik Disease; Vrolik type of osteogenesis imperfecta

Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Disease Progression
2.	Spinal Dysraphism (Spina Bifida)
3.	Turner Syndrome (Turner's Syndrome)
4.	Platybasia (Basilar Impression)
5.	Osteogenesis Imperfecta (Lobstein Disease)

Experts

1.	Alonso, Luis G: 1 article (04/2007)
2.	Ciamponi, Ana L: 1 article (04/2007)
3.	Guimarães, Antonio S: 1 article (04/2007)
4.	Ortega, Adriana de Oliveira L: 1 article (04/2007)
5.	Rosa, Vera L M: 1 article (04/2007)
6.	Zwir, Liete M L Figueiredo: 1 article (04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2A Osteogenesis imperfecta:

1.	CollagenIBA 09/01/1982 - "This report describes the ocular histopathologic condition of four cases of osteogenesis imperfecta congenita, with emphasis on the ultrastructural characteristics of the collagen in the cornea and sclera." 05/01/1977 - "Collagen from bone (femur and calvarium), rib cartilage, skin, tendon, sclera, and cornea has been isolated and purified from a deceased 4-day-old infant with osteogenesis imperfecta congenita. " 05/01/1977 - "Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen." 02/11/1984 - "Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen." 05/01/1977 - "These data suggest that at least one form of osteogenesis imperfecta congenita is associated with a molecular alteration of collagen involving hydroxy-lysine and that this alteration is particualrly marked in collagens obtained from calcifying tissues."
2.	Hydroxyproline (4 Hydroxyproline)IBA 02/01/1977 - "The chemical response SCT therapy varied in children with osteogenesis imperfecta congenita, only one demonstrating a decrease in both acid phosphatase and urinary hydroxyproline. " 12/01/1972 - "[Does the determination of acid mucopolysaccharides and hydroxyproline contribute to the differential diagnosis of fibrous dysplasia (Jaffé-Lichtenstein) and osteogenesis imperfecta congenita?]."
3.	Thymus ExtractsIBA 09/30/1956 - "[Normalization of ossification processes in a case of osteogenesis imperfecta congenita treated with thymus extracts potentiated with liver extracts]."
4.	Sulfates (Sulfates, Inorganic)IBA 01/01/1979 - "Only two of the osteogenesis imperfecta congenita cell strains showed an increased uptake of sulfate, all other cell strains being comparable to the control group. " 01/01/1979 - "In vitro sulfate turnover in osteogenesis imperfecta congenita and tarda." 01/01/1979 - "Sulfate (35SO4(-2)) uptake was studied in confluent skin fibroblasts from three patients with osteogenesis imperfecta "congenita," six patients with osteogenesis imperfecta "tarda," three clinically unaffected relatives of an osteogenesis imperfecta tarda patient, and four controls. "
5.	Sodium Fluoride (Ossin)FDA Link 10/01/1966 - "Effects of sodium fluoride on the clinical course and metabolic balance of an infant with osteogenesis imperfecta congenita."
6.	Proteins (Proteins, Gene)FDA Link 04/01/2007 - "The osteogenesis imperfecta congenita (OMIM 166210) type II phenotype can be caused by mutation in either the COL1A1 gene or the COL1A2 gene that encode the chains of type I procollagen, the major protein in bones. "
7.	Lysine (L-Lysine)FDA Link 05/01/1977 - "These data suggest that at least one form of osteogenesis imperfecta congenita is associated with a molecular alteration of collagen involving hydroxy-lysine and that this alteration is particualrly marked in collagens obtained from calcifying tissues."
8.	Liver ExtractsIBA 09/30/1956 - "[Normalization of ossification processes in a case of osteogenesis imperfecta congenita treated with thymus extracts potentiated with liver extracts]."
9.	GlycosaminoglycansIBA 12/01/1972 - "[Does the determination of acid mucopolysaccharides and hydroxyproline contribute to the differential diagnosis of fibrous dysplasia (Jaffé-Lichtenstein) and osteogenesis imperfecta congenita?]."
10.	CalciumIBA 01/01/1983 - "Calcitonin and calcium therapy in an infant with osteogenesis imperfecta congenita."

Therapies and Procedures

1.	Therapeutics 01/01/1983 - "Calcitonin and calcium therapy in an infant with osteogenesis imperfecta congenita." 02/01/1977 - "The chemical response SCT therapy varied in children with osteogenesis imperfecta congenita, only one demonstrating a decrease in both acid phosphatase and urinary hydroxyproline. "
2.	Mechanical Ventilators (Ventilator) 06/01/1994 - "Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report."