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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
Desmoplastic Small Round Cell Tumor (DSRCT)
Alias:
Dsrct
Desmoplastic Small Round-Cell Neoplasm
Desmoplastic Small Round-Cell Tumor
Desmoplastic Small-Round-Cell 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
结缔组织良性肿瘤,也称为dsrct,与小细胞癌有关,并且有疼痛等症状。与Desmoplastic Small Round Cell Tumor相关的重要基因是EWSR1(EWS RNA结合蛋白1),其相关通路/超级通路包括间充质干细胞和特异性标记物以及视网膜母细胞瘤蛋白的调节。Ipilimumab和Nivolumab已在该疾病的背景下被提及。附属组织包括脊髓和小肠,相关表型为腹痛和肉瘤。
Related ID:
MALACARDS:DSM007
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
青少年
<1/1000000
28
409
--
DSM007
Medical Symptom
#
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Description
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No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
CAS Number
Status
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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