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amelogenesis imperfecta, type 1J - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta, type 1J

MONDO:0015008

Also known as:amelogenesis imperfecta, type IjAI1J

Overview

GeneticsAutosomal recessive · ACP4 (chr 19)

ResearchLimited published research (1 article)

Clinical Presentation

Features include sometimes findings: Carious teeth and Increased overbite. 6 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.

ACP4 encodes acid phosphatase 4 (426 aa). May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage. May play a role in odontogenesis Highest expression in Testis (10.8 TPM) and Skin Not Sun Exposed Suprapubic (1.0 TPM).

Amelogenesis imperfecta, type 1J is associated with mutations in the ACP4 gene on chromosome 19.

ACP4 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

12 pathogenic variants reported in ACP4 in ClinVar.

Diagnosis

Genetic testing for ACP4 is available. Testing is considered confirmatory for diagnosis.

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 1J.

1 publication has been identified in PubMed for amelogenesis imperfecta, type 1J. Research spans Basic Science / Preclinical (100%).

Recent Publications

Hytönen MK (2025). [PMID: 39804930](https://pubmed.ncbi.nlm.nih.gov/39804930/). *PLoS Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617297

GARD

Genetic and Rare Diseases Info Center

GARD:16220

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 1J

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team