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osteogenesis imperfecta type 12 (OI12) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 12

MONDO:0013460

Also known as:OI12SP7 osteogenesis imperfectaosteogenesis imperfecta caused by mutation in SP7

Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.

GeneticsAutosomal recessive · SP7 (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: Delayed eruption of teeth, Short stature, Narrow mouth, and Generalized osteoporosis and others; and sometimes findings: Abnormal cardiovascular system morphology. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Generalized osteoporosis, Weak and brittle bones (osteoporosis), Recurrent fractures

Genetic Landscape

SP7 function has not been fully characterized.

Osteogenesis imperfecta type 12 is associated with mutations in the SP7 gene on chromosome 12.

Diagnosis

Genetic testing for SP7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 22 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 12.

65 publications have been identified in PubMed for osteogenesis imperfecta type 12. Research spans Basic Science / Preclinical (31%), Clinical Trial Publication (22%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	20	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613849

GARD

Genetic and Rare Diseases Info Center

GARD:15722

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 12

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 12

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