Amelogenesis Imperfecta, Type Iv (AI4)

Alias:

Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism

Amelogenesis Imperfecta Type 4

Aihht

Ai4

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism

Amelogenesis Imperfecta 2 Hypocalcification Type

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta with Taurodontism

Amelogenesis Imperfecta Type Iv

Amelogenesis Imperfecta 4

Ait

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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IV，也被称为低成熟度-低釉质发育不全伴牙槽突增大，与牙釉质发育不全，低成熟度型，IIA2和牙釉质发育不全，IIIA型有关。与牙釉质发育不全，类型IV有关的重要基因是DLX3（远端缺失同源盒3），其相关通路/超通路包括胰岛素样生长因子（IGF）运输和摄取的胰岛素样生长因子结合蛋白（IGFBPs）调节。相关表型为牙齿黄色和棕色变色以及釉质发育不全

Related ID：

MALACARDS：AML020

OMIM：104510

MESH：D000567