Amelogenesis Imperfecta, Type Ib (AI1B)

Alias:

Ai1b

Aih2

Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local

Hereditary Localized Enamel Hypoplasia

Amelogenesis Imperfecta Type 1b

Amelogenesis Imperfecta Type Ib

Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant

Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta

Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant

Enamel Hypoplasia, Hereditary Localized

Amelogenesis Imperfecta Hypoplastic 2

Amelogenesis Imperfecta 1b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Amelogenesis Imperfecta, Type Ib, also known as ai1b, is related to amelogenesis imperfecta and amelogenesis imperfecta, type ie. An important gene associated with Amelogenesis Imperfecta, Type Ib is ENAM (Enamelin), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include liver and kidney, and related phenotypes are amelogenesis imperfecta and Increased shRNA abundance (Z-score > 2)

Related ID：

MALACARDS：AML017

OMIM：104500

MESH：D000567