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osteogenesis imperfecta type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 5

MONDO:0012591

Also known as:IFITM5 osteogenesis imperfectaOI type 5OI5

Find Clinical TrialsTrials

Overview

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).

GeneticsAutosomal dominant · IFITM5 (chr 11)

Clinical Trials1 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: Limited pronation/supination of forearm, Mild bone density loss (osteopenia), and Recurrent fractures; and common findings: Biconcave vertebral bodies, Hyperplastic callus formation, Short stature, and Anterior radial head dislocation and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Hyperextensibility of the finger joints, Biconcave vertebral bodies, Joint hypermobility

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IFITM5 encodes interferon induced transmembrane protein 5 (132 aa). Required for normal bone mineralization Highest expression in Pancreas (2.6 TPM) and Lung (0.7 TPM).

Osteogenesis imperfecta type 5 is associated with mutations in the IFITM5 gene on chromosome 11.

IFITM5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFITM5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for osteogenesis imperfecta type 5. Research spans Review / Meta-Analysis (27%), Basic Science / Preclinical (27%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Research summaries	4	27%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610967

Orphanet

European rare disease database

Orphanet:216828

GARD

Genetic and Rare Diseases Info Center

GARD:8699

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for IFITM5, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

osteogenesis imperfecta type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteogenesis imperfecta type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications