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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
Von Hippel-Lindau Syndrome (VHLS)
Alias:
Von Hippel-Lindau Disease
Vhl
Von Hippel-Lindau Syndrome, Modifier of
Familial Cerebelloretinal Angiomatosis
Lindau Disease
Vhl Syndrome
Vhls
Cerebelloretinal Angiomatosis, Familial
Hippel Lindau Syndrome
Hippel-Lindau Disease
Angiomatosis Retinae
Vhl Disease
Vhld
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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
Von Hippel-Lindau 综合症,又称为 von hippel-lindau 疾病,与血管母细胞瘤和胰腺浆液性囊腺瘤有关,症状包括耳鸣和眩晕。与 Von Hippel-Lindau 综合症有关的重要基因是 VHL(Von Hippel-Lindau 抑癌基因),其相关通路/超级通路包括信号转导和 GDNF 信号通路。在该疾病的背景下,已提到的药物有生长抑素和雷珠单抗。相关组织包括脊髓和胰腺,相关表型为眼异常和高血压。
Related ID:
MALACARDS:VNH007
OMIM:193300
MESH:D006623
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-9/100000
58
604
450
VNH007
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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