amelogenesis imperfecta hypomaturation type 2A2
Findings
No curated finding names amelogenesis imperfecta hypomaturation type 2A2 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 MMP20 gene.
Definition from the Mondo Disease Ontology (MONDO:0012926), 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
- 2 of 2 reported patients
- Hypomature enamelHPOHP:0033786
- 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.
- MMP20HGNC:7167
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- 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 hypomaturation type 2A2
- Also called
- AI2A2amelogenesis imperfecta caused by mutation in MMP20amelogenesis imperfecta, type IIA2MMP20 amelogenesis imperfecta