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GTR Home > Conditions/Phenotypes > Amelogenesis imperfecta type 2A1

Amelogenesis imperfecta type 2A1

Synonyms
AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1; Amelogenesis imperfecta, hypomaturation type, IIA1; Amelogenesis imperfecta, type IIA1

Summary

Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta See also AI2A2 (612529), caused by mutation in the MMP20 gene (604629); AI2A3 (613211), caused by mutation in the WDR72 gene (613214); and AI2A4 (614832), caused by mutation in the C4ORF26 gene (614829). [from OMIM]

Available tests

14 tests are in the database for this condition.

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Clinical tests (13 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: AI2A1, ARM1, EMSP, EMSP1, KLK-L1, PRSS17, PSTS, kallikrein, KLK4
    Summary: kallikrein related peptidase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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