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dentin dysplasia type II (DD-II) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dentin dysplasia type II

MONDO:0007437

Also known as:DD-IIDTDP2anomalous dysplasia of dentin

Overview

Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.

GeneticsAutosomal dominant · DSPP (chr 4)

Clinical Presentation

Features include always present findings: Thistle tube shaped pulp and Dentinogenesis imperfecta limited to primary teeth. 3 total HPO annotations.

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).

Dentin dysplasia type II 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.

Biomarker and diagnostic research for dentin dysplasia type II has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 dentin dysplasia type II.

112 publications have been identified in PubMed for dentin dysplasia type II. Research spans Basic Science / Preclinical (37%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Laboratory research	37	37%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125420

Orphanet

European rare disease database

Orphanet:99791

GARD

Genetic and Rare Diseases Info Center

GARD:1806

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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dentin dysplasia type II

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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