amelogenesis imperfecta type 1E
Findings
No curated finding names amelogenesis imperfecta type 1E 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 AMELX gene.
Definition from the Mondo Disease Ontology (MONDO:0010521), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant 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.
- Anterior open-bite malocclusionHPOHP:0009102
- 1 of 1 reported patient
- Abnormal dentin morphologyHPOHP:0010299
- 0 of 3 reported patients
- Amelogenesis imperfectaHPOHP:0000705
- Enamel hypoplasiaHPOHP:0006297
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.
- HGNC:461HGNC:461
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: amelogenesis imperfecta type 1E
- Also called
- AIH1amelogenesis imperfecta caused by mutation in AMELXamelogenesis imperfecta, type 1E, X-linked dominantAMELX amelogenesis imperfecta