U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta type 1E

Amelogenesis imperfecta type 1E

Synonyms
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Amelogenesis imperfecta X-linked 1; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; ENAMEL HYPOPLASIA, X-LINKED 1; Enamel hypoplasia X-linked

Summary

Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI1E, AIH1, ALGN, AMG, AMGL, AMGX, AMELX
    Summary: amelogenin X-linked

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.