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amelogenesis imperfecta hypomaturation type 2A4 (AI2A4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta hypomaturation type 2A4

MONDO:0013906

Also known as:AI2A4ODAPH amelogenesis imperfectaamelogenesis imperfecta caused by mutation in ODAPH

Overview

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

GeneticsAutosomal recessive · ODAPH (chr 4)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Amelogenesis imperfecta, Enamel hypomineralization, and Enamel hypoplasia.

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.

ODAPH encodes odontogenesis associated phosphoprotein (130 aa). May promote nucleation of hydroxyapatite Highest expression in Brain Spinal cord cervical c-1 (0.6 TPM) and Testis (0.5 TPM).

Amelogenesis imperfecta hypomaturation type 2A4 is associated with mutations in the ODAPH gene on chromosome 4.

ODAPH is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ODAPH 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 hypomaturation type 2A4.

1 publication has been identified in PubMed for amelogenesis imperfecta hypomaturation type 2A4. Research spans Basic Science / Preclinical (100%).

Recent Publications

Li M (2025). [PMID: 40680053](https://pubmed.ncbi.nlm.nih.gov/40680053/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 11:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614832

GARD

Genetic and Rare Diseases Info Center

GARD:15847

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 hypomaturation type 2A4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team