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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Muenke Syndrome (MNKES)
Alias:
Muenke Nonsyndromic Coronal Craniosynostosis
Fgfr3-Associated Coronal Synostosis
Fgfr3-Related Craniosynostosis
Muenke Non-Syndromic Coronal Craniosynostosis
Fgfr3-Related Isolated Coronal Synostosis
Mnkes
Mnks
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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
Muenke 综合症,又称为 Muenke 非综合征性冠状颅缝早闭,与额间距增宽和偏头畸形有关。与 Muenke 综合症相关的重要基因是 FGFR3(成纤维细胞生长因子受体 3),其相关通路/超级通路包括 ERK 信号通路和滑膜成纤维细胞的凋亡通路。相关组织包括骨和皮肤,相关表型包括上睑下垂和额间距增宽。
Related ID:
MALACARDS:MNK003
OMIM:602849
MESH:C537369
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
1-9/100000
15
255
82
MNK003
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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