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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
Lymphoproliferative Syndrome, X-Linked, 2 (XLP2)
Alias:
Xlp2
X-Linked Lymphoproliferative Disease Due to Xiap Deficiency
Xiap Deficiency
X-Linked Lymphoproliferative Syndrome Type 2
X-Linked Lymphoproliferative Syndrome 2
Xiap Deficiency Syndrome
Lymphoproliferative Syndrome, X-Linked, Type 2
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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
淋巴增殖性综合症,X连锁型2,也称为xlp2,与克罗恩病和无丙种球蛋白血症有关。与淋巴增殖性综合症,X连锁型2相关的基因是XIAP(X连锁抑制凋亡),其相关通路/超级通路包括先天免疫系统和免疫系统中的细胞因子信号通路。药物Pharmaceutical Solutions已在该疾病的背景下被提及。相关组织包括T细胞和NK细胞,相关表型为全血细胞减少和再生障碍性贫血。
Related ID:
MALACARDS:LYM114
OMIM:300635
MESH:D008232
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
婴儿期
<1/1000000
20
215
27
LYM114
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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