type VIII Osteogenesis imperfecta

Also Known As:

Osteogenesis imperfecta, type VIII; OI, type 8 Osteogenesis imperfecta, type 8; OI, type VIII Osteogenesis imperfecta, type VIII; OI8 Osteogenesis imperfecta 8

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteogenesis Imperfecta: 2193
        type VIII Osteogenesis imperfecta: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteogenesis Imperfecta: 2193
    - type VIII Osteogenesis imperfecta: 5
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Osteogenesis Imperfecta: 2193
      - type VIII Osteogenesis imperfecta: 5

Related Diseases

1.	Pseudarthrosis (Pseudoarthrosis)

Experts

1.	Popkov, Dmitry: 1 article (11/2018)
2.	Chin, Joel W E: 1 article (01/2018)
3.	Stuart, Grant M: 1 article (01/2018)
4.	Barnes, Aileen M: 1 article (01/2016)
5.	Carter, Erin: 1 article (01/2016)
6.	Chang, Weizhong: 1 article (01/2016)
7.	Eyre, David R: 1 article (01/2016)
8.	Fratzl-Zelman, Nadja: 1 article (01/2016)
9.	Glorieux, Francis H: 1 article (01/2016)
10.	Hefferan, Theresa E: 1 article (01/2016)

Drugs and Biologics

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

1.	2-oxoglutarate 3-dioxygenase prolineIBA 01/01/2016 - "Type VIII osteogenesis imperfecta (OI; OMIM 601915) is a recessive form of lethal or severe OI caused by null mutations in P3H1, which encodes prolyl 3-hydroxylase 1. Clinical and bone material description of non-lethal type VIII OI. " 10/01/2013 - "Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII."

Therapies and Procedures

1.	External Fixators 11/01/2018 - "Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report."
2.	Spinal Fusion (Spondylosyndesis) 01/01/2018 - "We describe a child with autosomal recessive osteogenesis imperfecta type VIII (severe or lethal phenotype), who successfully underwent posterior spinal fusion, was extubated on postoperative day 1 and discharged home 25 days later. "
3.	Intramedullary Fracture Fixation 11/01/2018 - "Use of flexible intramedullary nailing in combination with an external fixator for a postoperative defect and pseudarthrosis of femur in a girl with osteogenesis imperfecta type VIII: a case report."