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tooth agenesis, selective, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tooth agenesis, selective, 3

MONDO:0011477

Also known as:PAX9 tooth agenesisPAX9-related selective tooth agenesisSTHAG3

Overview

Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.

GeneticsAutosomal dominant · PAX9 (chr 14)

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: Agenesis of permanent molar and Oligodontia; and sometimes findings: Microdontia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Anhidrosis, Abnormal skin morphology
Arms and legs

Genetic Landscape

PAX9 function has not been fully characterized.

Tooth agenesis, selective, 3 is caused by mutations in the PAX9 gene on chromosome 14.

Diagnosis

Genetic testing for PAX9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for tooth agenesis, selective, 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 tooth agenesis, selective, 3.

18 publications have been identified in PubMed for tooth agenesis, selective, 3. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Research summaries	6	33%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604625

GARD

Genetic and Rare Diseases Info Center

GARD:18247

Questions for Your Care Team

→Should I pursue genetic testing for PAX9, 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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Kisho

tooth agenesis, selective, 3

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

tooth agenesis, selective, 3

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