Type V Osteogenesis Imperfecta

Also Known As:

Osteogenesis Imperfecta, Type V; OI, Type V; OI, type 5 Osteogenesis Imperfecta, Type 5; OI, type V Osteogenesis Imperfecta, Type V; OI5 Osteogenesis Imperfecta 5; Osteogenesis imperfecta with normal sclerae; Osteogenesis imperfecta, type 5

Networked: 27 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteogenesis Imperfecta: 2193
        Type V Osteogenesis Imperfecta: 27
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteogenesis Imperfecta: 2193
    - Type V Osteogenesis Imperfecta: 27
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Osteogenesis Imperfecta: 2193
      - Type V Osteogenesis Imperfecta: 27

Related Diseases

1.	Osteogenesis Imperfecta (Lobstein Disease)
2.	Type V Osteogenesis Imperfecta
3.	Facies
4.	Hyperplasia
5.	Developmental Bone Diseases (Bone Dysplasia)

Experts

1.	Moffatt, Pierre: 4 articles (02/2022 - 01/2013)
2.	Rauch, Frank: 4 articles (09/2017 - 01/2006)
3.	Gaumond, Marie-Hélène: 3 articles (02/2022 - 05/2013)
4.	Marini, Joan C: 3 articles (01/2022 - 02/2015)
5.	Glorieux, Francis H: 3 articles (09/2017 - 01/2006)
6.	Blouin, Stéphane: 2 articles (01/2022 - 09/2017)
7.	Fratzl-Zelman, Nadja: 2 articles (01/2022 - 09/2017)
8.	Hanagata, Nobutaka: 2 articles (12/2020 - 03/2016)
9.	Campeau, Philippe M: 2 articles (11/2013 - 07/2013)
10.	Gibbs, Richard A: 2 articles (11/2013 - 07/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type V Osteogenesis Imperfecta:

1.	Pamidronate (Aredia)FDA LinkGeneric 09/01/2017 - "Therefore, investigations of transiliac bone biopsy samples from a cohort of OI type V children (n = 15, 8.7 ± 4 years old) untreated at baseline and a subset (n = 8) after pamidronate treatment (2.6 years in average) were performed. " 01/01/2013 - "Four had OI type I, eleven had type III, one OI-FKBP10 type and one OI type V. Mean age at start of pamidronate was 14 ± 11 months. " 01/01/2006 - "The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V." 01/01/2006 - "In conclusion, the intravenous pamidronate therapy has a similar effect in OI type V as it has in the other OI types." 01/01/2006 - "Intravenous treatment with pamidronate is beneficial in children and adolescents with moderate to severe forms of osteogenesis imperfecta (OI) types I, III and IV, but there is little information on the effects of this treatment on the newly described OI type V. Here, we describe the results of 2 years of pamidronate treatment in 11 children and adolescents with OI type V (age at start of therapy 1.8 to 15.0 years; 6 girls). "
2.	5' Untranslated Regions (5' UTR)IBA 01/01/2019 - "OI type V is caused by the c.-14C > T pathogenic variant in the 5'UTR of the IFITM5 gene and is characterized by hyperplastic callus formation and the ossification of interosseous membranes. " 03/01/2016 - "Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). " 11/01/2013 - "OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. " 03/01/2014 - "Recent studies have identified the molecular defect underlying autosomal dominant osteogenesis imperfecta (OI) type V. Unlike all other OI types, which are characterized by high genetic heterogeneity, OI type V appears consistently associated to a unique de novo C>T transition within the 5' UTR of the IFITM5 gene. " 12/01/2021 - "IFITM5 encodes an osteoblast-restricted protein BRIL and a recurrent c.-14C>T mutation in its 5' UTR region results in OI type V, a distinctive subtype of OI associated with hyperplastic callus formation and ossification of the interosseous membranes. "
3.	Sirolimus (Rapamycin)FDA Link 12/03/2020 - "In this study, heterozygous c.-14C > T mutant mice were developed to investigate the effect of immunosuppressants (FK506 and rapamycin) on OI type V. Among the mosaic mice generated by Crispr/Cas9-based technology, mice with less than 40% mosaic ratio of c.-14C > T mutation survived, whereas those with more than 48% mosaic ratio exhibited lethal skeletal abnormalities with one exception. "
4.	Tacrolimus (Prograf)FDA LinkGeneric 12/03/2020 - "In this study, heterozygous c.-14C > T mutant mice were developed to investigate the effect of immunosuppressants (FK506 and rapamycin) on OI type V. Among the mosaic mice generated by Crispr/Cas9-based technology, mice with less than 40% mosaic ratio of c.-14C > T mutation survived, whereas those with more than 48% mosaic ratio exhibited lethal skeletal abnormalities with one exception. "
5.	Immunosuppressive Agents (Immunosuppressants)IBA 12/03/2020 - "Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C > T mutation." 12/03/2020 - "In this study, heterozygous c.-14C > T mutant mice were developed to investigate the effect of immunosuppressants (FK506 and rapamycin) on OI type V. Among the mosaic mice generated by Crispr/Cas9-based technology, mice with less than 40% mosaic ratio of c.-14C > T mutation survived, whereas those with more than 48% mosaic ratio exhibited lethal skeletal abnormalities with one exception. "
6.	Proteins (Proteins, Gene)FDA Link 03/01/2015 - "The mechanism whereby this novel IFITM5 protein causes OI type V is yet to be defined. " 09/01/2014 - "BRIL proteins and transcripts were equally detected in bone from a patient with OI type V, suggesting that the cause of the disease is a gain of function mediated by a faulty intracellular activity of the mutant BRIL." 08/10/2012 - "Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V." 12/01/2021 - "IFITM5 encodes an osteoblast-restricted protein BRIL and a recurrent c.-14C>T mutation in its 5' UTR region results in OI type V, a distinctive subtype of OI associated with hyperplastic callus formation and ossification of the interosseous membranes. " 02/25/2015 - "Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report."
7.	InterferonsIBA 02/25/2015 - "Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report." 02/01/2015 - "Patients with type V osteogenesis imperfecta (OI) are heterozygous for a dominant IFITM5 c.-14C>T mutation, which adds five residues to the N terminus of bone-restricted interferon-induced transmembrane-like protein (BRIL), a transmembrane protein expressed in osteoblasts. " 12/03/2020 - "Osteogenesis imperfecta (OI) type V is an autosomal dominant disorder caused by the c.-14C > T mutation in the interferon-induced transmembrane protein 5 gene (IFITM5), however, its onset mechanism remains unclear. " 09/01/2017 - "In contrast to "classical" forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted interferon-inducible transmembrane (IFITM)-like protein (BRIL). " 07/01/2013 - "In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5' untranslated region (5'UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.-14C > T) and provide a detailed description of their phenotype. "
8.	Initiator Codon (Start Codon)IBA 07/01/2013 - "This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. " 08/10/2012 - "A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus." 03/27/2014 - "This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V. Sanger sequencing of the IFITM5 5' UTR was performed in our cohort of subjects with a clinical diagnosis of OI type V. Clinical data was collated from referring clinicians. " 12/01/2013 - "Recently, a specific mutation in the IFITM5 gene was found to be responsible for OI type V. This mutation, a C to T transition 14 nucleotides upstream from the endogenous start codon, creates a new start methionine that appears to be preferentially used by the translational machinery. "
9.	Collagen Type I (Type I Collagen)IBA 09/01/2000 - "In conclusion, OI type V is a new form of autosomal dominant OI, which does not appear to be associated with collagen type I mutations. " 11/01/2013 - "We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent." 08/10/2012 - "OI type V has an autosomal-dominant pattern of inheritance and is not caused by mutations in the type I collagen genes COL1A1 and COL1A2. "
10.	Diphosphonates (Bisphosphonates)IBA 03/01/2005 - "Cyclic bisphosphonate therapy in osteogenesis imperfecta type V." 03/01/2016 - "Bisphosphonates may exacerbate callus hyperplasia, and may therefore have to be used with caution in patients with type V osteogenesis imperfecta." 03/01/2016 - "Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta."

Therapies and Procedures

Therapeutics

12/03/2020 - "These findings could clarify certain aspects of the onset mechanism of OI type V and enable development of therapeutics for this condition."
01/01/2006 - "In conclusion, the intravenous pamidronate therapy has a similar effect in OI type V as it has in the other OI types."
03/01/2005 - "Cyclic bisphosphonate therapy in osteogenesis imperfecta type V."
01/01/2006 - "Intravenous treatment with pamidronate is beneficial in children and adolescents with moderate to severe forms of osteogenesis imperfecta (OI) types I, III and IV, but there is little information on the effects of this treatment on the newly described OI type V. Here, we describe the results of 2 years of pamidronate treatment in 11 children and adolescents with OI type V (age at start of therapy 1.8 to 15.0 years; 6 girls). "