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osteogenesis imperfecta, type 20 (OI20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta, type 20

MONDO:0032846

Also known as:OI20OSTEOGENESIS IMPERFECTA, TYPE XX

Overview

GeneticsAutosomal recessive · MESD (chr 15)

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 gross motor development; and common findings: Tented upper lip vermilion, High palate, Narrow chest, and Retrognathia and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Tented upper lip vermilion, Narrow palate, High palate

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.

MESD encodes mesoderm development LRP chaperone (234 aa). Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs). Highest expression in Cells Cultured fibroblasts (34.7 TPM) and Thyroid (33.9 TPM).

Osteogenesis imperfecta, type 20 is associated with mutations in the MESD gene on chromosome 15.

MESD is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for osteogenesis imperfecta, type 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 12 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 20.

47 publications have been identified in PubMed for osteogenesis imperfecta, type 20. Research spans Review / Meta-Analysis (26%), Case Report / Case Series (20%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Research summaries	12	26%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618644

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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Kisho

osteogenesis imperfecta, type 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

osteogenesis imperfecta, type 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications