Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

amelogenesis imperfecta type 1H (AI1H) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amelogenesis imperfecta type 1H

MONDO:0014540

Also known as:AI1HITGB6 amelogenesis imperfectaamelogenesis imperfecta caused by mutation in ITGB6

Overview

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.

GeneticsAutosomal recessive · ITGB6 (chr 2)

ResearchLimited published research (3 articles)

Clinical Presentation

Features include 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.

ITGB6 encodes integrin subunit beta 6 (788 aa). Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin. It recognizes the sequence R-G-D in its ligands. Highest expression in Kidney Medulla (50.3 TPM) and Lung (23.7 TPM).

Amelogenesis imperfecta type 1H is associated with mutations in the ITGB6 gene on chromosome 2.

ITGB6 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 6.5.

Diagnosis

Genetic testing for ITGB6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 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 1H.

3 publications have been identified in PubMed for amelogenesis imperfecta type 1H. Research spans Basic Science / Preclinical (100%).

Recent Publications

Yin H (2026). [PMID: 42074549](https://pubmed.ncbi.nlm.nih.gov/42074549/). *Genes (Basel)*. [Basic Science / Preclinical]
Li M (2025). [PMID: 40680053](https://pubmed.ncbi.nlm.nih.gov/40680053/). *PLoS One*. [Basic Science / Preclinical]
Camacho-Escalera C (2025). [PMID: 40712386](https://pubmed.ncbi.nlm.nih.gov/40712386/). *Int Dent J*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:17 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616221

GARD

Genetic and Rare Diseases Info Center

GARD:16071

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?

← Back to All Diseases

amelogenesis imperfecta type 1H

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