Amelogenesis Imperfecta, Type Ic (AI1C)

Alias:

Amelogenesis Imperfecta Type 1c

Ai1c

Amelogenesis Imperfecta Type Ic

Amelogenesis Imperfecta, Hypoplastic, with or Without Open-Bite Malocclusion, Autosomal Recessive

Autosomal Recessive Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion

Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion Autosomal Recessive

Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive

Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type

Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive

Amelogenesis Imperfecta 1c

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

牙釉质发育不全，类型Ic，也称为牙釉质发育不全类型1c，与牙髓钙化和牙釉质发育不全，低成熟型，IIa2有关。与牙釉质发育不全，类型Ic有关的重要基因是ENAM（釉原蛋白），其相关通路/超级通路包括胰岛素样生长因子（IGF）运输和摄取的调节，由胰岛素样生长因子结合蛋白（IGFBPs）介导。相关表型为牙釉质发育不全和釉质矿化不良。

Related ID：

MALACARDS：AML018

OMIM：204650

MESH：D000567