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amelogenesis imperfecta type 3B (AI3B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 3B

MONDO:0021547

Also known as:AI3Bamelogenesis imperfecta, type 3Bamelogenesis imperfecta, type IIIB

Overview

GeneticsAutosomal dominant · AMTN (chr 4)

ResearchLimited published research (1 article)

Clinical Presentation

Features include always present findings: Amelogenesis imperfecta and Enamel hypomineralization.

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.

AMTN encodes amelotin (209 aa). Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis Highest expression in Minor Salivary Gland (3.0 TPM) and Prostate (0.7 TPM).

Amelogenesis imperfecta type 3B is associated with mutations in the AMTN gene on chromosome 4.

AMTN is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

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 amelogenesis imperfecta type 3B.

1 publication has been identified in PubMed for amelogenesis imperfecta type 3B. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhu J (2026). [PMID: 41554697](https://pubmed.ncbi.nlm.nih.gov/41554697/). *Int J Oral Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617607

GARD

Genetic and Rare Diseases Info Center

GARD:18258

Questions for Your Care Team

→Should I pursue genetic testing for AMTN, 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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amelogenesis imperfecta type 3B

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team