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amelogenesis imperfecta type 1A (AI1A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 1A

MONDO:0007094

Also known as:AI1ALAMB3 amelogenesis imperfectaamelogenesis imperfecta caused by mutation in LAMB3

Overview

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.

GeneticsAutosomal dominant · LAMB3 (chr 1)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Amelogenesis imperfecta and Enamel hypoplasia; and common findings: Taurodontia and Dental enamel pits. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	1	Abnormality of the skin

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.

LAMB3 encodes laminin subunit beta 3 (1,172 aa). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext... Highest expression in Skin Sun Exposed Lower leg (57.8 TPM) and Skin Not Sun Exposed Suprapubic (54.8 TPM).

Amelogenesis imperfecta type 1A is associated with mutations in the LAMB3 gene on chromosome 1.

LAMB3 is classified as a druggable target (Druggable Genome category) with score 1.7.

Diagnosis

Genetic testing for LAMB3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common 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 1A.

6 publications have been identified in PubMed for amelogenesis imperfecta type 1A. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

Goldoni M (2025). [PMID: 39443834](https://pubmed.ncbi.nlm.nih.gov/39443834/). *Pediatr Dermatol*. [Case Report / Case Series]
Besa-Witto C (2025). [PMID: 39777984](https://pubmed.ncbi.nlm.nih.gov/39777984/). *Oral Dis*. [Epidemiology / Natural History]
Camacho-Escalera C (2025). [PMID: 40712386](https://pubmed.ncbi.nlm.nih.gov/40712386/). *Int Dent J*. [Basic Science / Preclinical]
Yang Y (2025). [PMID: 39357391](https://pubmed.ncbi.nlm.nih.gov/39357391/). *Arch Oral Biol*. [Basic Science / Preclinical]
Véliz S (2024). [PMID: 39034598](https://pubmed.ncbi.nlm.nih.gov/39034598/). *Spec Care Dentist*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:104530

GARD

Genetic and Rare Diseases Info Center

GARD:15038

Questions for Your Care Team

→Should I pursue genetic testing for LAMB3, 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 1A

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