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tooth agenesis, selective, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tooth agenesis, selective, 1

MONDO:0007129

Also known as:MSX1 tooth agenesisMSX1-related tooth agenesis with or without orofacial clefttooth agenesis caused by mutation in MSX1

Overview

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.

GeneticsAutosomal dominant · MSX1 (chr 4)

Clinical Presentation

Features include: Hypodontia.

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.

MSX1 encodes msh homeobox 1 (303 aa). Acts as a transcriptional repressor. Capable of transcription autoinactivation. Highest expression in Cervix Endocervix (129.5 TPM) and Cervix Ectocervix (81.9 TPM).

Tooth agenesis, selective, 1 is caused by mutations in the MSX1 gene on chromosome 4.

The MSX1 protein participates in Expression of MSX1 in the neural plate border, Expression of TFAP2A in the neural plate border, and Specification of the neural plate border pathways.

MSX1 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.

Diagnosis

Genetic testing for MSX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for tooth agenesis, selective, 1 has been reported in the published literature.

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, 1.

304 publications have been identified in PubMed for tooth agenesis, selective, 1. Kisho has analyzed 103 by research type. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	26	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106600

GARD

Genetic and Rare Diseases Info Center

GARD:18244

Questions for Your Care Team

→Should I pursue genetic testing for MSX1, 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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tooth agenesis, selective, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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