Amelogenesis Imperfecta, Type Iiia (AI3A)

Alias:
Amelogenesis Imperfecta Type 3
Adhcai
Amelogenesis Imperfecta Hypomineralization Type
Hypocalcified Amelogenesis Imperfecta
Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta Type Iii
Amelogenesis Imperfecta Type 3a
Amelogenesis Imperfecta, Type 3
Ai3a
Ai3
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Amelogenesis Imperfecta, Hypomineralization Type
Amelogenesis Imperfecta, Hypocalcification Type
Amelogenesis Imperfecta 3a
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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IIIA,也称为牙釉质发育不全类型3,与牙釉质发育不全类型III和牙釉质发育不全类型IV有关。与牙釉质发育不全类型IIIA相关的重要基因是FAM83H(家族相似性83成员H),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,以及胰岛素样生长因子结合蛋白(IGFBPs)。相关组织包括骨,相关表型包括牙颌畸形和牙釉质发育不全。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
未知
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28
160
12

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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