osteogenesis imperfecta type 5
Findings
No curated finding names osteogenesis imperfecta type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).
Definition from the Mondo Disease Ontology (MONDO:0012591), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Limited pronation/supination of forearmHPOHP:0006394
- 7 of 7 reported patients
- OsteopeniaHPOHP:0000938
- 7 of 7 reported patients
- Recurrent fracturesHPOHP:0002757
- 7 of 7 reported patients
- Anterior radial head dislocationHPOHP:0005084
- 17 of 23 reported patients
- Wormian bonesHPOHP:0002645
- 5 of 7 reported patients
- Triangular faceHPOHP:0000325
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:16644HGNC:16644
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: osteogenesis imperfecta type 5
- Also called
- IFITM5 osteogenesis imperfectaOI type 5OI5osteogenesis imperfecta caused by mutation in IFITM5