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amelogenesis imperfecta, hypomaturation type, IIa6 (AI2A6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta, hypomaturation type, IIa6

MONDO:0014971

Also known as:AI2A6amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6

Overview

GeneticsAutosomal recessive · GPR68 (chr 14)

ResearchLimited published research (1 article)

Clinical Presentation

Features include sometimes findings: Anterior open-bite malocclusion. 3 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.

GPR68 encodes G protein-coupled receptor 68 (365 aa). Proton-sensing G-protein coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions. The receptor is almost silent at pH 7. Highest expression in Pituitary (20.7 TPM) and Brain Cerebellum (9.2 TPM).

Amelogenesis imperfecta, hypomaturation type, IIa6 is associated with mutations in the GPR68 gene on chromosome 14.

The GPR68 protein participates in Cellular responses to mechanical stimuli and High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells pathways.

GPR68 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 0.0.

Diagnosis

Genetic testing for GPR68 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, IIa6.

1 publication has been identified in PubMed for amelogenesis imperfecta, hypomaturation type, IIa6. Research spans Basic Science / Preclinical (100%).

Recent Publications

Sharmin N (2025). [PMID: 40569950](https://pubmed.ncbi.nlm.nih.gov/40569950/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617217

GARD

Genetic and Rare Diseases Info Center

GARD:16211

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, IIa6

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