Dentinogenesis Imperfecta 1 (DGI1)

Alias:
Dentinogenesis Imperfecta Type 2
Capdepont Teeth
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
Dentinogenesis Imperfecta, Shields Type 2
Opalescent Dentin
Dgi-Ii
Opalescent Teeth Without Osteogenesis Imperfecta
Dentinogenesis Imperfecta, Shields Type Ii
Dgi-2
Dgi1
Di-2
Dentinogenesis Imperfecta Shields Type Ii
Dentinogenesis Imperfecta, Shields Type I
Non-Syndromic Dentinogenesis Imperfecta
Non-Syndromic Dgi
Dgi2
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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1型,又称牙本质生成不全2型,与牙本质发育不良和脆骨病有关。与牙本质生成不全1型相关的重要基因是DSPP(牙本质涎磷蛋白),其相关通路/超通路包括细胞外基质组织和ECM蛋白聚糖。相关组织包括骨和肝,相关表型为牙本质生成不全和牙齿黄褐色变。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-5/10000
2
19
21

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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