amelogenesis imperfecta type 1A
Findings
No curated finding names amelogenesis imperfecta type 1A 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 LAMB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0007094), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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
- 2 of 2 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 2 of 2 reported patients
- Dental enamel pitsHPOHP:0009722
- 1 of 2 reported patients
- TaurodontiaHPOHP:0000679
- 1 of 2 reported patients
- Abnormality of the skinHPOHP:0000951
- 0 of 2 reported patients
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.
- LAMB3HGNC:6490
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: amelogenesis imperfecta type 1A
- Also called
- AI1Aamelogenesis imperfecta caused by mutation in LAMB3LAMB3 amelogenesis imperfecta