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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
Wiskott-Aldrich Syndrome (WAS)
Alias:
Eczema-Thrombocytopenia-Immunodeficiency Syndrome
Was
Immunodeficiency 2
Imd2
Wiskott-Aldrich Syndrome 1
Aldrich Syndrome
Wiskott Syndrome
Was1
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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
威斯科特-奥尔德里奇综合症,又称湿疹-血小板减少-免疫缺陷综合症,与免疫缺陷病和中性粒细胞减少症有关,是一种严重的先天性、X连锁疾病,症状包括腹泻和皮肤紫癜。与威斯科特-奥尔德里奇综合症有关的重要基因是WAS(WASP Actin Nucleation Promoting Factor),其相关通路/超级通路包括先天免疫系统和传染病。在该疾病的背景下,已提到的药物有γ-球蛋白和免疫球蛋白G。相关组织包括皮肤和骨髓,相关表型为慢性中耳炎和反复呼吸道感染。
Related ID:
MALACARDS:WSK001
OMIM:301000
MESH:D014923
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
新生儿
1-9/1000000
51
430
177
WSK001
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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