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amelogenesis imperfecta type 1F (AI1F) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 1F

MONDO:0014560

Also known as:AI1FAMBN amelogenesis imperfectaamelogenesis imperfecta caused by mutation in AMBN

Overview

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

GeneticsAutosomal recessive · AMBN (chr 4)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Abnormality of dental color, Amelogenesis imperfecta, and Enamel hypoplasia. 4 total HPO annotations.

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.

AMBN encodes ameloblastin (447 aa). Involved in the mineralization and structural organization of enamel Highest expression in Brain Putamen basal ganglia (1.6 TPM) and Brain Caudate basal ganglia (1.4 TPM).

Amelogenesis imperfecta type 1F is associated with mutations in the AMBN gene on chromosome 4.

AMBN is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features.

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 1F.

6 publications have been identified in PubMed for amelogenesis imperfecta type 1F. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Mohamed FF (2026). [PMID: 41496794](https://pubmed.ncbi.nlm.nih.gov/41496794/). *JBMR Plus*. [Basic Science / Preclinical]
Lamprou A (2025). [PMID: 40801656](https://pubmed.ncbi.nlm.nih.gov/40801656/). *Cells*. [Basic Science / Preclinical]
Chun YP (2025). [PMID: 40318225](https://pubmed.ncbi.nlm.nih.gov/40318225/). *J Bone Miner Res*. [Review / Meta-Analysis]
Takagiwa Y (2024). [PMID: 38875772](https://pubmed.ncbi.nlm.nih.gov/38875772/). *Arch Oral Biol*. [Basic Science / Preclinical]
Kegulian NC (2024). [PMID: 38815936](https://pubmed.ncbi.nlm.nih.gov/38815936/). *Matrix Biol*. [Review / Meta-Analysis]
Kegulian NC (2024). [PMID: 39447937](https://pubmed.ncbi.nlm.nih.gov/39447937/). *J Struct Biol*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616270

GARD

Genetic and Rare Diseases Info Center

GARD:16076

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 type 1F

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team