osteogenesis imperfecta type 4
Findings
No curated finding names osteogenesis imperfecta type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).
Definition from the Mondo Disease Ontology (MONDO:0008148), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Popcorn calcificationHPOHP:6000871
- 2 of 20 reported patients
- Reduced bone mineral densityHPOHP:0004349
Genes
10 genes
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.
- COL1A1HGNC:2197
- Definitive · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- COL1A2HGNC:2198
- Supportive · Orphanet · Autosomal dominant · 2021
- CRTAPHGNC:2379
- Supportive · Orphanet · Autosomal dominant · 2021
- FKBP10HGNC:18169
- Supportive · Orphanet · Autosomal dominant · 2021
- PPIBHGNC:9255
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 4
- Also called
- OI type 4OI4osteogenesis imperfecta type IV