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tooth agenesis, selective, 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tooth agenesis, selective, 10

MONDO:0859339

Overview

GeneticsAutosomal recessive · TSPEAR (chr 21)

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: Oligodontia; and sometimes findings: Narrow forehead, Microcephaly, High palate, and Low-set ears.

Organ System	Phenotype Count	Example Features
Head and neck	2	Microcephaly, High palate

Explore clinical features

Genetic Landscape

TSPEAR function has not been fully characterized.

Tooth agenesis, selective, 10 is associated with mutations in the TSPEAR gene on chromosome 21.

Diagnosis

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

Biomarker and diagnostic research for tooth agenesis, selective, 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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, 10.

24 publications have been identified in PubMed for tooth agenesis, selective, 10. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Research summaries	8	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620173

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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tooth agenesis, selective, 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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