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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
Protoplasmic Astrocytoma
Alias:
Protoplasmic Astrocytic Tumor
Astrocytoma Protoplasmic
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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
原浆型星形细胞瘤,又名原浆型星形细胞瘤,与纤维性星形细胞瘤和弥漫性星形细胞瘤有关,症状包括头痛、癫痫发作和运动表现。与原浆型星形细胞瘤有关的重要基因是IDH2(异柠檬酸脱氢酶(NADP(+))2)。在该疾病的背景下,已提到多巴胺和多巴胺类药物。附属组织包括脑和眼。
Related ID:
MALACARDS:PRT005
MESH:D001254
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
<1/1000000
8
67
--
PRT005
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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