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osteogenesis imperfecta type 9 (OI9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 9

MONDO:0009805

Also known as:OI9PPIB osteogenesis imperfectaosteogenesis imperfecta caused by mutation in PPIB

Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.

GeneticsAutosomal recessive · PPIB (chr 15)

OnsetANTENATAL, CONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Wide anterior fontanel, Finger joint hypermobility, Disproportionate short-limb short stature, and Recurrent fractures and others; and very common findings: Sideways curvature of the spine (scoliosis), Dentinogenesis imperfecta, and Multiple prenatal fractures. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	13	Weak and brittle bones (osteoporosis), Finger joint hypermobility, Mild bone density loss (osteopenia)

Genetic Landscape

PPIB function has not been fully characterized.

Osteogenesis imperfecta type 9 is associated with mutations in the PPIB gene on chromosome 15.

Diagnosis

Genetic testing for PPIB is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features, 3 very common features, 6 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for osteogenesis imperfecta type 9.

53 publications have been identified in PubMed for osteogenesis imperfecta type 9. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	13	25%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:259440

GARD

Genetic and Rare Diseases Info Center

GARD:10619

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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osteogenesis imperfecta type 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteogenesis imperfecta type 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications