Amelogenesis Imperfecta, Type Ie (AI1E)

Alias:
Amelogenesis Imperfecta Type 1e
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1
Amelogenesis Imperfecta Type 1
Enamel Hypoplasia, X-Linked
Aih1
Amelogenesis Imperfecta, X-Linked 1
Hypoplastic Amelogenesis Imperfecta
Amelogenesis Imperfecta Type Ie
Ai1e
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth
Amelogenesis Imperfecta Hypomaturationtype with Snow-Capped Teeth
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 1
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e
Amelogenesis Imperfecta Local Hypoplastic Form
Amelogenesis Imperfecta, Hypoplastic Type
X-Linked Amelogenesis Imperfecta 1
Amelogenesis Imperfecta, Type 1e
X-Linked Amelogenesis Imperfecta
X-Linked Enamel Hypoplasia
Amelogenesis Imperfecta 1e
Enamel Hypoplasia X-Linked
Xai
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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Ie,也称为牙釉质发育不全类型1e,与牙釉质发育不全,类型IV和牙釉质发育不全,低/不成熟,X连锁2有关。与牙釉质发育不全,类型Ie相关的重要基因是AMELX(X连锁酪蛋白)。相关组织包括肝脏和皮肤,相关表型为前牙开咬错合和牙釉质发育不全。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
未知
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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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