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osteogenesis imperfecta type 6 (OI6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 6

MONDO:0013515

Also known as:OI6SERPINF1 osteogenesis imperfectaosteogenesis imperfecta caused by mutation in SERPINF1

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Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.

GeneticsAutosomal recessive · SERPINF1 (chr 17)

Clinical Trials3 registered · 1 recruiting

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: Elevated circulating alkaline phosphatase concentration, Blue sclerae, Motor delay, and Elevated circulating deoxypyridinoline concentration and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Biconcave vertebral bodies, Joint hypermobility, Recurrent fractures

Genetic Landscape

SERPINF1 function has not been fully characterized.

Osteogenesis imperfecta type 6 is associated with mutations in the SERPINF1 gene on chromosome 17.

Diagnosis

Genetic testing for SERPINF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present 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.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE3, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

14 publications have been identified in PubMed for osteogenesis imperfecta type 6. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (29%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	4

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613982

GARD

Genetic and Rare Diseases Info Center

GARD:8700

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 3 active clinical trials a good fit for my situation?
→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 6

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 6

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