Craniosynostosis

Craniosynostosis(来自ICD-11)
别称:
Premature Closure of Cranial Sutures
Craniosynostosis Syndrome
Congenital Ossification of Sutures of Skull
Congenital Ossification of Cranial Sutures
Congenital Imperfect Closure Skull
Premature Closure Cranium Sutures
Deficiency of Craniofacial Axis
Imperfect Fusion of Skull
Imperfect Closure Skull
Craniosynostoses
Craniostenosis
Craniostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Craniosynostosis, also known as premature closure of cranial sutures, is related to muenke syndrome and jackson-weiss syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Tranexamic acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include Bone and brain, and related phenotypes are Decreased viability in pancreas lineage and nervous system
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相关ID:
MESH:D003398
ICD11:458033798

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XLD
AD
AR
XL
Newborn
1-5/10000
117
1375
18

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靶点药物

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MGI
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