amelogenesis imperfecta type 2A1
Findings
No curated finding names amelogenesis imperfecta type 2A1 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 KLK4 gene.
Definition from the Mondo Disease Ontology (MONDO:0008772), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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
- 2 of 2 reported patients
- Enamel hypomineralizationHPOHP:0006285
- 2 of 2 reported patients
- Yellow-brown discoloration of the teethHPOHP:0006286
- 2 of 2 reported patients
- Anterior open-bite malocclusionHPOHP:0009102
- 1 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.
- KLK4HGNC:6365
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: amelogenesis imperfecta type 2A1
- Also called
- AI2A1amelogenesis imperfecta caused by mutation in KLK4amelogenesis imperfecta, type IIA1KLK4 amelogenesis imperfecta