Dentinogenesis Imperfecta (DI)

Alias:
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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
牙本质生成不全,也称为遗传性半透明牙本质,与牙本质生成不全1和骨生成不全,类型VII有关。与牙本质生成不全相关的基因是DSPP(牙本质涎磷蛋白),其相关通路/超级通路包括磷脂酶C通路和PI3K-Akt信号通路。附属组织包括牙、骨和皮肤,相关表型包括牙髓消失和异常牙根形态。
Related ID:
MESH:D003811
ICD11:2090257992

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-5/10000
34
455
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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