amelogenesis imperfecta type 1B
MONDO:0007092Mondo
Findings
No curated finding names amelogenesis imperfecta type 1B 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 ENAM gene.
Definition from the Mondo Disease Ontology (MONDO:0007092), read 2026-09-29. CC BY 4.0.
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.
- ENAMHGNC:3344
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Strong · Ambry Genetics · Semidominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: amelogenesis imperfecta type 1B
- Also called
- AI1Bamelogenesis imperfecta caused by mutation in ENAMENAM amelogenesis imperfectahereditary localised enamel hypoplasia