osteogenesis imperfecta type 9
Findings
No curated finding names osteogenesis imperfecta type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.
Definition from the Mondo Disease Ontology (MONDO:0009805), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Second trimester onset
HPO, annotations 2026-09-02
Features
28 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.
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Bowing of limbs due to multiple fracturesHPOHP:0003023
- 14 of 14 reported patients
- Bowing of the long bonesHPOHP:0006487
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 3 of 3 reported patients
- Diaphyseal undertubulationHPOHP:0005019
- 2 of 2 reported patients
- Disproportionate short-limb short statureHPOHP:0008873
- 3 of 3 reported patients
- Finger joint hypermobilityHPO
Show the remaining 16
- Recurrent fracturesHPOHP:0002757
- 4 of 4 reported patients
- Triangular faceHPOHP:0000325
- 1 of 1 reported patient
- Wide anterior fontanelHPOHP:0000260
- 3 of 3 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 11 of 12 reported patients
- Multiple prenatal fracturesHPOHP:0005855
- 5 of 6 reported patients
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.
- PPIBHGNC:9255
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: osteogenesis imperfecta type 9
- Also called
- OI9osteogenesis imperfecta caused by mutation in PPIBPPIB osteogenesis imperfecta