Crouzon Syndrome (CS)

Crouzon Syndrome(来自ICD-11)
别称:
Craniofacial Dysostosis
Crouzon Craniofacial Dysostosis
Cfd1
Craniofacial Dysostosis Type 1
Crouzon's Disease
Crouzon Disease
Craniofacial Dysostosis Syndrome
Craniofacial Dysostosis, Type I
Craniofacial Dysostosis Type I
Craniofacial Dysarthrosis
Vogt Cephalosyndactyly
Cs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Crouzon Syndrome, also known as craniofacial dysostosis, is related to crouzon syndrome with acanthosis nigricans and carpenter syndrome 1, and has symptoms including seizures and frequent headaches. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include Bone and eye, and related phenotypes are frontal bossing and abnormal facial shape
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相关ID:
MESH:D003394
ICD11:1535725821

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Newborn
1-9/1000000
39
483
49

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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疾病模型

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MGI
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文献报道

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