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osteogenesis imperfecta, type 18 (OI18) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta, type 18

MONDO:0044329

Also known as:OI18osteogenesis imperfecta, type XVIII

Overview

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).

GeneticsAutosomal recessive · TENT5A (chr 6)

OnsetINFANTILE, 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: Femoral bowing, Joint hypermobility, Blue sclerae, and Recurrent fractures; and common findings: Wormian bones. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Femoral bowing, Biconcave vertebral bodies, Joint hypermobility

Genetic Landscape

TENT5A function has not been fully characterized.

Osteogenesis imperfecta, type 18 is associated with mutations in the TENT5A gene on chromosome 6.

Diagnosis

Genetic testing for TENT5A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta, type 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 common feature.

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 18.

47 publications have been identified in PubMed for osteogenesis imperfecta, type 18. Research spans Epidemiology / Natural History (30%), Case Report / Case Series (21%), and Clinical Trial Publication (19%).

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

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617952

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 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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osteogenesis imperfecta, type 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications