Dentinogenesis Imperfecta (DI)

Dentinogenesis Imperfecta(来自ICD-11)
别称:
Hereditary Opalescent Dentin
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dgi
Opalescent Teeth Without Osteogenesis Imperfecta
Non-Syndromic Dentinogenesis Imperfecta
Opalescent Teeth Without Oi
Non-Syndromic Dgi
Dgi Without Oi
Di
Opalescent Dentin
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dentinogenesis Imperfecta, also known as hereditary opalescent dentin, is related to dentinogenesis imperfecta 1 and osteogenesis imperfecta, type vii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include Tooth, bone and skin, and related phenotypes are pulp obliteration and abnormal dental root morphology
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相关ID:
MESH:D003811
ICD11:2090257992

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Child
1-5/10000
34
455
8

疾病表征

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表征
HPO概率
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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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