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Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
Features include always present findings: Enamel hypoplasia and Yellow-brown discoloration of the teeth; and sometimes findings: Taurodontia. 4 total HPO annotations.
DLX3 encodes distal-less homeobox 3 (287 aa). Transcriptional activator. Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter Highest expression in Skin Sun Exposed Lower leg (85.8 TPM) and Skin Not Sun Exposed Suprapubic (65.4 TPM).
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism is associated with mutations in the DLX3 gene on chromosome 17.
DLX3 is classified as a druggable target with score 4.4.
Genetic testing for DLX3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism.
5 publications have been identified in PubMed for hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism. Research spans Basic Science / Preclinical (40%), Gene Therapy / Novel Therapeutics (40%), and Epidemiology / Natural History (20%).
Wang YL (2026). [PMID: 41774401](https://pubmed.ncbi.nlm.nih.gov/41774401/). *Ann N Y Acad Sci*. [Basic Science / Preclinical]
Patni AP (2026). [PMID: 41765949](https://pubmed.ncbi.nlm.nih.gov/41765949/). *Int J Oral Sci*. [Gene Therapy / Novel Therapeutics]
Patni AP (2025). [PMID: 40236031](https://pubmed.ncbi.nlm.nih.gov/40236031/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Lee DJ (2024). [PMID: 38945953](https://pubmed.ncbi.nlm.nih.gov/38945953/). *Exp Mol Med*. [Basic Science / Preclinical]
Möhlhenrich SC (2024). [PMID: 38877506](https://pubmed.ncbi.nlm.nih.gov/38877506/). *Head Face Med*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center