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osteogenesis imperfecta type 10 (OI10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 10

MONDO:0013459

Also known as:OI10SERPINH1 osteogenesis imperfectaosteogenesis imperfecta caused by mutation in SERPINH1

Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.

GeneticsAutosomal recessive · SERPINH1 (chr 11)

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: Narrow forehead, Tibial bowing, Rhizomelia, and Generalized joint hypermobility and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Generalized joint hypermobility, Short femur, Mild bone density loss (osteopenia)

Genetic Landscape

SERPINH1 function has not been fully characterized.

Osteogenesis imperfecta type 10 is associated with mutations in the SERPINH1 gene on chromosome 11.

Diagnosis

Genetic testing for SERPINH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 31 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.

No clinical trials have been registered for osteogenesis imperfecta type 10.

103 publications have been identified in PubMed for osteogenesis imperfecta type 10. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (22%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Laboratory research	29	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613848

GARD

Genetic and Rare Diseases Info Center

GARD:12874

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 10

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 10

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