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osteogenesis imperfecta type 15 (OI15) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 15

MONDO:0014086

Also known as:OI15WNT1 osteogenesis imperfectaosteogenesis imperfecta caused by mutation in WNT1

Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.

GeneticsAutosomal recessive · WNT1 (chr 12)

OnsetINFANTILE

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: Bowing of limbs due to multiple fractures and Recurrent fractures; and common findings: Joint hypermobility and Blue sclerae. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Sideways curvature of the spine (scoliosis), Joint hypermobility, Bowing of limbs due to multiple fractures

Genetic Landscape

WNT1 function has not been fully characterized.

Osteogenesis imperfecta type 15 is associated with mutations in the WNT1 gene on chromosome 12.

Diagnosis

Genetic testing for WNT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 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 15.

47 publications have been identified in PubMed for osteogenesis imperfecta type 15. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (23%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	14	30%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615220

GARD

Genetic and Rare Diseases Info Center

GARD:15919

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 15

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 15

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