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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
Dermatofibrosarcoma Protuberans (DFSP)
Alias:
Dermatofibrosarcoma
Dfsp
Giant Cell Fibroblastoma
Metastatic Dermatofibrosarcoma Protuberans
Darier-Hoffmann Tumor
Darier-Ferrand Tumor
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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
皮肤纤维肉瘤,又名皮肤纤维肉瘤,与混合纤维肉瘤和皮肤肉瘤有关。与皮肤纤维肉瘤相关的基因是PDGFB(血小板衍生生长因子亚基B),其相关通路/超级通路包括PI3K-Akt信号通路和受体酪氨酸激酶信号通路。在该疾病的背景下,已提到的药物有异环磷酰胺和多柔比星。附属组织包括皮肤和乳腺,相关表型为皮下结节和皮肤肿瘤。
Related ID:
MALACARDS:DRM014
OMIM:607907
MESH:D018223
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-5/10000
31
627
12
DRM014
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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