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amelogenesis imperfecta type 2A1 (AI2A1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 2A1

MONDO:0008772

Also known as:AI2A1KLK4 amelogenesis imperfectaamelogenesis imperfecta caused by mutation in KLK4

Overview

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.

GeneticsAutosomal recessive · KLK4 (chr 19)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Amelogenesis imperfecta, Enamel hypomineralization, and Yellow-brown discoloration of the teeth; and common findings: Anterior open-bite malocclusion. 5 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.

KLK4 encodes kallikrein related peptidase 4 (254 aa). Has a major role in enamel formation. Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix Highest expression in Prostate (394.5 TPM) and Cervix Endocervix (8.6 TPM).

Amelogenesis imperfecta type 2A1 is associated with mutations in the KLK4 gene on chromosome 19.

KLK4 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Diagnosis

Genetic testing for KLK4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

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 2A1.

2 publications have been identified in PubMed for amelogenesis imperfecta type 2A1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Lin K (2025). [PMID: 40723411](https://pubmed.ncbi.nlm.nih.gov/40723411/). *Biology (Basel)*. [Basic Science / Preclinical]
Avelar FM (2024). [PMID: 39273410](https://pubmed.ncbi.nlm.nih.gov/39273410/). *Int J Mol Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:204700

GARD

Genetic and Rare Diseases Info Center

GARD:9495

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 2A1

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