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amelogenesis imperfecta, type 3A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta, type 3A

MONDO:0007538

Also known as:amelogenesis imperfecta hypomineralization typeamelogenesis imperfecta type 3amelogenesis imperfecta type III

Overview

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.

GeneticsAutosomal dominant · FAM83H (chr 8)

ResearchLimited published research (9 articles)

Clinical Presentation

Features include: Amelogenesis imperfecta, Anterior open-bite malocclusion, and Dental malocclusion.

Explore clinical features

Genetic Landscape

FAM83H function has not been fully characterized.

Amelogenesis imperfecta, type 3A is associated with mutations in the FAM83H gene on chromosome 8.

Diagnosis

Genetic testing for FAM83H is available. Testing is considered confirmatory for diagnosis.

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 3A.

10 publications have been identified in PubMed for amelogenesis imperfecta, type 3A. Research spans Basic Science / Preclinical (89%) and Case Report / Case Series (11%).

Recent Publications

Ogan BM (2026). [PMID: 41546142](https://pubmed.ncbi.nlm.nih.gov/41546142/). *Eur J Immunol*. [Basic Science / Preclinical]
Auwerx H (2026). [PMID: 41636123](https://pubmed.ncbi.nlm.nih.gov/41636123/). *Acta Physiol (Oxf)*. [Basic Science / Preclinical]
Hu JC (2025). [PMID: 40724960](https://pubmed.ncbi.nlm.nih.gov/40724960/). *Int J Mol Sci*. [Basic Science / Preclinical]
Zhang Z (2025). [PMID: 39856501](https://pubmed.ncbi.nlm.nih.gov/39856501/). *Beijing Da Xue Xue Bao Yi Xue Ban*. [Basic Science / Preclinical]
Camacho-Escalera C (2025). [PMID: 40712386](https://pubmed.ncbi.nlm.nih.gov/40712386/). *Int Dent J*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:130900

Questions for Your Care Team

→Should I pursue genetic testing for FAM83H, 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 3A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team