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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
Papilloma of Choroid Plexus (CPP)
Alias:
Choroid Plexus Papilloma
Cpp
Childhood Choroid Plexus Papilloma
Papilloma, Choroid Plexus
Choroid Plexus Carcinoma
Papilloma Choroid Plexus
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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
脉络丛乳头状瘤,又称脉络丛乳头状瘤,与异常脉络丛乳头状瘤和脉络丛癌有关,症状包括头痛、恶心和癫痫发作。与脉络丛乳头状瘤相关的重要基因是TP53(肿瘤蛋白P53),其相关通路/超级通路包括神经科学和神经干细胞和特异性标记。在该疾病的背景下提到了依托泊苷和拓扑替康。附属组织包括大脑和脊髓,相关表型为脑积水和脉络丛乳头状瘤。
Related ID:
MALACARDS:PPL058
OMIM:260500
MESH:D020288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
--
16
241
7
PPL058
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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