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osteogenesis imperfecta type 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteogenesis imperfecta type 7

MONDO:0012536

Also known as:CRTAP osteogenesis imperfectaOI7osteogenesis imperfecta caused by mutation in CRTAP

Overview

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

GeneticsAutosomal recessive · CRTAP (chr 3)

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, Bowing of the legs, Coxa vara, and Recurrent fractures and others; and very common findings: Sideways curvature of the spine (scoliosis). 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Mild bone density loss (osteopenia), Femoral retroversion, Recurrent fractures

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.

CRTAP encodes cartilage associated protein (401 aa). Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues Highest expression in Cervix Ectocervix (262.7 TPM) and Artery Aorta (241.2 TPM).

Osteogenesis imperfecta type 7 is associated with mutations in the CRTAP gene on chromosome 3.

The CRTAP protein participates in Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen and Procollagen triple helix formation pathways.

CRTAP is classified as a druggable target (Druggable Genome category) with score 52.2.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 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 7.

13 publications have been identified in PubMed for osteogenesis imperfecta type 7. Research spans Basic Science / Preclinical (54%), Case Report / Case Series (15%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	7	54%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610682

GARD

Genetic and Rare Diseases Info Center

GARD:8701

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 7

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 7

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