Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

tooth agenesis, selective, 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tooth agenesis, selective, 7

MONDO:0014749

Also known as:LRP6 tooth agenesisSTHAG7tooth agenesis caused by mutation in LRP6

Overview

Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.

GeneticsAutosomal dominant · LRP6 (chr 12)

Clinical Presentation

Features include common findings: Agenesis of permanent teeth; and sometimes findings: Taurodontia.

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.

LRP6 encodes LDL receptor related protein 6 (1,613 aa). Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes. Highest expression in Cervix Ectocervix (29.6 TPM) and Uterus (28.5 TPM).

Tooth agenesis, selective, 7 is associated with mutations in the LRP6 gene on chromosome 12.

The LRP6 protein participates in DKK promotes clathrin-dependent internalization of LRP6 and WNT3A stimulates the caveolin-dependent internalization of FZD5:p-LRP6 pathways.

LRP6 is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for LRP6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for tooth agenesis, selective, 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common 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, 7.

30 publications have been identified in PubMed for tooth agenesis, selective, 7. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Research summaries	8	27%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616724

GARD

Genetic and Rare Diseases Info Center

GARD:18249

Questions for Your Care Team

→Should I pursue genetic testing for LRP6, 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

tooth agenesis, selective, 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications