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osteogenesis imperfecta, type 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta, type 19

MONDO:0049223

Also known as:osteogenesis imperfecta, type XIX, X-linked recessiveOI19osteogenesis imperfecta, type XIX

Overview

GeneticsX-linked · MBTPS2 (chr X)

ResearchLimited published research (3 articles)

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: Rhizomelia, Biconcave vertebral bodies, Mild bone density loss (osteopenia), and Bowing of the legs and others; and very common findings: Bowing of the arm and Multiple prenatal fractures. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Sideways curvature of the spine (scoliosis), 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.

MBTPS2 encodes membrane bound transcription factor peptidase, site 2 (519 aa). Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2. Highest expression in Cells Cultured fibroblasts (16.6 TPM) and Brain Cerebellar Hemisphere (10.1 TPM).

Osteogenesis imperfecta, type 19 is associated with mutations in the MBTPS2 gene on chromosome X.

The MBTPS2 protein participates in CREB3L2 translocates from the cytosol to the nucleus pathway.

MBTPS2 is classified as a druggable target (Enzyme, Protease, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for MBTPS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta, type 19 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 2 very common features, 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 19.

3 publications have been identified in PubMed for osteogenesis imperfecta, type 19. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (33%).

Recent Publications

Felicio-Briegel A (2025). [PMID: 39333311](https://pubmed.ncbi.nlm.nih.gov/39333311/). *Eur Arch Otorhinolaryngol*. [Epidemiology / Natural History]
Debaenst S (2025). [PMID: 39817421](https://pubmed.ncbi.nlm.nih.gov/39817421/). *Elife*. [Diagnostic / Biomarker]
Sillence DO (2024). [PMID: 38942908](https://pubmed.ncbi.nlm.nih.gov/38942908/). *Calcif Tissue Int*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301014

Questions for Your Care Team

→Should female family members consider carrier screening for MBTPS2?
→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 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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