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dentinogenesis imperfecta type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dentinogenesis imperfecta type 3

MONDO:0007442

Also known as:DGI-IIIDentinogenesis Imperfecta Type IIIbrandywine type dentinogenesis imperfecta

Overview

Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).

GeneticsAutosomal dominant · DSPP (chr 4)

Clinical Presentation

Features include: Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, and Dentinogenesis imperfecta and 1 more.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Periapical bone loss

Explore clinical features

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.

DSPP encodes dentin sialophosphoprotein (1,301 aa). DSP may be an important factor in dentinogenesis. Highest expression in Testis (0.0 TPM) and Artery Aorta (0.0 TPM).

Dentinogenesis imperfecta type 3 is associated with mutations in the DSPP gene on chromosome 4.

The DSPP protein participates in DSPP(463-1301):Integrin alphaVbeta1, Positive Regulation of CDH1 Gene Transcription, and Regulation of CDH1 Gene Transcription pathways.

DSPP is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 dentinogenesis imperfecta type 3.

15 publications have been identified in PubMed for dentinogenesis imperfecta type 3. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (27%).

Research Type	Count	% of Total
Research summaries	5	33%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 9:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125500

Orphanet

European rare disease database

Orphanet:166265

GARD

Genetic and Rare Diseases Info Center

GARD:10144

Questions for Your Care Team

→Should I pursue genetic testing for DSPP, 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?

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dentinogenesis imperfecta type 3

Overview

Clinical Presentation

Explore clinical features

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

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