amelogenesis imperfecta type 1H
Findings
No curated finding names amelogenesis imperfecta type 1H yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014540), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Amelogenesis imperfectaHPOHP:0000705
- Dental enamel pitsHPOHP:0009722
- Enamel hypoplasiaHPOHP:0006297
- Yellow-brown discoloration of the teethHPOHP:0006286
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITGB6HGNC:6161
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: amelogenesis imperfecta type 1H
- Also called
- AI1Hamelogenesis imperfecta caused by mutation in ITGB6ITGB6 amelogenesis imperfecta