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

Rare Disease

dentin dysplasia type I

MONDO:0007436

Also known as:DD-IDTDP1dentin dysplasia, type i, with microdontia and misshapen teeth

Overview

Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.

GeneticsAutosomal recessive · SMOC2 (chr 6)

ResearchLimited published research (5 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: Microdontia, Enamel hypoplasia, Taurodontia, and Short dental root and others. 7 total HPO annotations.

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

Explore clinical features

Genetic Landscape

SMOC2 function has not been fully characterized.

Dentin dysplasia type I is associated with mutations in the SMOC2 gene on chromosome 6.

Diagnosis

Genetic testing for SMOC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 I.

5 publications have been identified in PubMed for dentin dysplasia type I. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

Zhu J (2026). [PMID: 41554697](https://pubmed.ncbi.nlm.nih.gov/41554697/). *Int J Oral Sci*. [Review / Meta-Analysis]
Arponen H (2025). [PMID: 40122363](https://pubmed.ncbi.nlm.nih.gov/40122363/). *Bone*. [Case Report / Case Series]
Chen Z (2025). [PMID: 41309624](https://pubmed.ncbi.nlm.nih.gov/41309624/). *Nat Commun*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40040554](https://pubmed.ncbi.nlm.nih.gov/40040554/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Jiang S (2024). [PMID: 39535354](https://pubmed.ncbi.nlm.nih.gov/39535354/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:125400

Orphanet

European rare disease database

Orphanet:99789

GARD

Genetic and Rare Diseases Info Center

GARD:1807

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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dentin dysplasia type I

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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