Solitary Median Maxillary Central Incisor (SMMCI)

Alias:
Single Upper Central Incisor
Single Median Maxillary Central Incisor
Single Central Maxillary Incisor
Fused Incisors
Smmci
Incisors, Fused
Solitary Median Maxillary Central Incisor Syndrome
Incisors Fused
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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
中缝裂脑伴单侧上颌中切牙,也称为单侧上颌中切牙,与全前脑畸形1和全前脑畸形有关。与中缝裂脑伴单侧上颌中切牙相关的基因是SHH(Sonic Hedgehog Signaling Molecule),其相关通路/超通路包括Hedgehog信号通路和CKAP4信号通路图。附属组织包括垂体和肾脏,相关表型包括全前脑畸形和前脑垂体功能减退症。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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20
188
19

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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