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Features include always present findings: Amelogenesis imperfecta and Enamel hypomineralization. 5 total HPO annotations.
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
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 1C 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.
Genetic testing for ENAM is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
No clinical trials have been registered for amelogenesis imperfecta type 1C.
103 publications have been identified in PubMed for amelogenesis imperfecta type 1C. Kisho has analyzed 77 by research type. Research spans Review / Meta-Analysis (36%), Epidemiology / Natural History (35%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 28 | 36% |
Disease patterns and progression | 27 | 35% |
Patient case studies | 13 | 17% |
Laboratory research | 5 | 6% |
Clinical study results | 4 | 5% |
Auwerx H (2026). [PMID: 41636123](https://pubmed.ncbi.nlm.nih.gov/41636123/). *Acta Physiol (Oxf)*. [Basic Science / Preclinical]
Araujo EA (2026). [PMID: 41539874](https://pubmed.ncbi.nlm.nih.gov/41539874/). *J World Fed Orthod*. [Case Report / Case Series]
Díaz-Fabregat B (2026). [PMID: 42093537](https://pubmed.ncbi.nlm.nih.gov/42093537/). *J Hum Lact*. [Review / Meta-Analysis]
Raghavan S (2026). [PMID: 41740246](https://pubmed.ncbi.nlm.nih.gov/41740246/). *Int Dent J*. [Review / Meta-Analysis]
Abu Arqub S (2026). [PMID: 41638603](https://pubmed.ncbi.nlm.nih.gov/41638603/). *Angle Orthod*. [Epidemiology / Natural History]
Faryad A (2026). [PMID: 41590179](https://pubmed.ncbi.nlm.nih.gov/41590179/). *Dent J (Basel)*. [Review / Meta-Analysis]
D'Antò V (2025). [PMID: 40760282](https://pubmed.ncbi.nlm.nih.gov/40760282/). *Prog Orthod*. [Review / Meta-Analysis]
Gao C (2025). [PMID: 40619361](https://pubmed.ncbi.nlm.nih.gov/40619361/). *BMC Oral Health*. [Review / Meta-Analysis]
Zhao T (2025). [PMID: 40699159](https://pubmed.ncbi.nlm.nih.gov/40699159/). *Am J Orthod Dentofacial Orthop*. [Review / Meta-Analysis]
Qu G (2025). [PMID: 39734269](https://pubmed.ncbi.nlm.nih.gov/39734269/). *J Oral Rehabil*. [Epidemiology / Natural History]