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osteogenesis imperfecta type 14 (OI14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 14

MONDO:0014029

Also known as:OI14TMEM38B osteogenesis imperfectaosteogenesis imperfecta caused by mutation in TMEM38B

Overview

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.

GeneticsAutosomal recessive · TMEM38B (chr 9)

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: Femoral bowing, Slender long bone, Increased circulating beta-C-terminal telopeptide concentration, and Weak and brittle bones (osteoporosis) and others; and very common findings: Recurrent fractures. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	8	Sideways curvature of the spine (scoliosis), Femoral bowing, Slender long bone

Genetic Landscape

TMEM38B function has not been fully characterized.

Osteogenesis imperfecta type 14 is associated with mutations in the TMEM38B gene on chromosome 9.

Diagnosis

Genetic testing for TMEM38B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 14 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 2 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 14.

46 publications have been identified in PubMed for osteogenesis imperfecta type 14. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (22%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Laboratory research	15	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615066

GARD

Genetic and Rare Diseases Info Center

GARD:15901

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 14

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 14

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