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osteogenesis imperfecta type 17 (OI17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 17

MONDO:0014672

Also known as:OI17SPARC osteogenesis imperfectaosteogenesis imperfecta caused by mutation in SPARC

Overview

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

GeneticsAutosomal recessive · SPARC (chr 5)

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: Weak and brittle bones (osteoporosis), Recurrent fractures, Vertebral compression fracture, and Kyphoscoliosis and others; and common findings: Short stature, Syringomyelia, Decreased muscle mass, and Low muscle tone (hypotonia) and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Weak and brittle bones (osteoporosis), Thin long bone diaphyses, Recurrent fractures

Genetic Landscape

SPARC function has not been fully characterized.

Osteogenesis imperfecta type 17 is associated with mutations in the SPARC gene on chromosome 5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 6 always present features, 14 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 17.

50 publications have been identified in PubMed for osteogenesis imperfecta type 17. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Patient case studies	14	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616507

GARD

Genetic and Rare Diseases Info Center

GARD:16126

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 17

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 17

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