amelogenesis imperfecta type 1B

Summary
Synonym
  • AI1B
  • AIH2
  • amelogenesis imperfecta type IB
  • autosomal dominant hypoplastic local amelogenesis imperfecta
  • hereditary localized enamel hypoplasia
Definition
An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.
Super Class
amelogenesis imperfecta autosomal dominant disease
Disease Ontology
DOID:0110052
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10117 ENAM enamelin
Displaying 1 entry
Gene ID Gene Symbol Description Source
13801 Enam enamelin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NRM1 Enamelin
Displaying 1 entry
UniProt ID Protein Name Source
O55196 Enamelin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025