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amelogenesis imperfecta hypomaturation type 2A3 (AI2A3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta hypomaturation type 2A3

MONDO:0013181

Also known as:AI2A3WDR72 amelogenesis imperfectaamelogenesis imperfecta caused by mutation in WDR72

Overview

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.

GeneticsAutosomal recessive · WDR72 (chr 15)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Hypomature dental enamel, Amelogenesis imperfecta, and Enamel hypomineralization.

Explore clinical features

Genetic Landscape

WDR72 function has not been fully characterized.

Amelogenesis imperfecta hypomaturation type 2A3 is associated with mutations in the WDR72 gene on chromosome 15.

Diagnosis

Genetic testing for WDR72 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 hypomaturation type 2A3.

9 publications have been identified in PubMed for amelogenesis imperfecta hypomaturation type 2A3. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Epidemiology / Natural History (13%).

Recent Publications

Ullah S (2026). [PMID: 40108106](https://pubmed.ncbi.nlm.nih.gov/40108106/). *Biochem Genet*. [Basic Science / Preclinical]
Patni AP (2026). [PMID: 41765949](https://pubmed.ncbi.nlm.nih.gov/41765949/). *Int J Oral Sci*. [Gene Therapy / Novel Therapeutics]
Auwerx H (2026). [PMID: 41636123](https://pubmed.ncbi.nlm.nih.gov/41636123/). *Acta Physiol (Oxf)*. [Basic Science / Preclinical]
Nouir S (2025). [PMID: 41427162](https://pubmed.ncbi.nlm.nih.gov/41427162/). *Pan Afr Med J*. [Case Report / Case Series]
Gupta A (2025). [PMID: 40953848](https://pubmed.ncbi.nlm.nih.gov/40953848/). *BMJ Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613211

GARD

Genetic and Rare Diseases Info Center

GARD:15630

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 hypomaturation type 2A3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team