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oligodontia-cancer predisposition syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oligodontia-cancer predisposition syndrome

MONDO:0012075

Also known as:ODCRCSautosomal dominant ectodermal dysplasia-cancer predisposition syndromeoligodontia-colorectal cancer syndrome

Overview

GeneticsAutosomal dominant · AXIN2 (chr 17)

OnsetMIDDLE_AGE

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Oligodontia; and common findings: Absent eyebrow and Sparse scalp hair. 10 total HPO annotations.

Age of onset: middle age.

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.

AXIN2 encodes axin 2 (843 aa). Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B Highest expression in Uterus (47.6 TPM) and Fallopian Tube (39.3 TPM).

Oligodontia-cancer predisposition syndrome is caused by mutations in the AXIN2 gene on chromosome 17.

The AXIN2 protein participates in pT41,S45-CTNNB1 S37C, pS45-CTNNB1 T41I, and pS37,T41,S45-CTNNB1 S33C pathways.

AXIN2 is classified as a druggable target (Clinically Actionable, Druggable Genome, and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for AXIN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common 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 oligodontia-cancer predisposition syndrome.

2 publications have been identified in PubMed for oligodontia-cancer predisposition syndrome. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Geng C (2025). [PMID: 41361419](https://pubmed.ncbi.nlm.nih.gov/41361419/). *BMC oral health*. [Review / Meta-Analysis]
Aceves-Ewing NM (2025). [PMID: 39677486](https://pubmed.ncbi.nlm.nih.gov/39677486/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608615

Orphanet

European rare disease database

Orphanet:300576

GARD

Genetic and Rare Diseases Info Center

GARD:17376

Questions for Your Care Team

→Should I pursue genetic testing for AXIN2, 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?

← Back to All Diseases

Kisho

oligodontia-cancer predisposition syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Molecular Basis and Clinical Spectrum of WNT10A-Related Oligodontia.

Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.

oligodontia-cancer predisposition syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Molecular Basis and Clinical Spectrum of WNT10A-Related Oligodontia.

Disease- and gene-specific deep learning for pathogenicity prediction of rare missense variants in cancer predisposition genes.