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amelogenesis imperfecta type 1B (AI1B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 1B

MONDO:0007092

Also known as:AI1BENAM amelogenesis imperfectaamelogenesis imperfecta caused by mutation in ENAM

Overview

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

GeneticsAutosomal dominant · ENAM (chr 4)

ResearchLimited published research (9 articles)

Clinical Presentation

Features include: Amelogenesis imperfecta.

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.

ENAM encodes enamelin (1,142 aa). Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation Highest expression in Kidney Medulla (3.4 TPM) and Kidney Cortex (2.2 TPM).

Amelogenesis imperfecta type 1B is associated with mutations in the ENAM gene on chromosome 4.

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

Diagnosis

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

Biomarker and diagnostic research for amelogenesis imperfecta type 1B has been reported in the published literature.

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 1B.

9 publications have been identified in PubMed for amelogenesis imperfecta type 1B. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (11%).

Recent Publications

Haque T (2025). [PMID: 39299262](https://pubmed.ncbi.nlm.nih.gov/39299262/). *Eur J Dent*. [Basic Science / Preclinical]
Chun YP (2025). [PMID: 40318225](https://pubmed.ncbi.nlm.nih.gov/40318225/). *J Bone Miner Res*. [Review / Meta-Analysis]
Camacho-Escalera C (2025). [PMID: 40712386](https://pubmed.ncbi.nlm.nih.gov/40712386/). *Int Dent J*. [Basic Science / Preclinical]
Lanza CRM (2025). [PMID: 40900580](https://pubmed.ncbi.nlm.nih.gov/40900580/). *J Appl Oral Sci*. [Review / Meta-Analysis]
Leban T (2025). [PMID: 40725478](https://pubmed.ncbi.nlm.nih.gov/40725478/). *Genes (Basel)*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:104500

GARD

Genetic and Rare Diseases Info Center

GARD:15037

Questions for Your Care Team

→Should I pursue genetic testing for ENAM, 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 1B

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