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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
Lymphomatoid Granulomatosis (LYG)
Alias:
Lyg
Granulomatosis, Lymphomatoid
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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
淋巴瘤样肉芽肿,也称为淋巴瘤样肉芽肿,与鼻型外周NK/T细胞淋巴瘤和X连锁淋巴增殖综合征1有关,其症状包括发热和疲劳。与淋巴瘤样肉芽肿有关的重要基因是IFNA2(干扰素α2),其相关通路/超级通路包括TLR信号通路和NF-κB信号通路。在该疾病的背景下,已经提到了药物Vorinostat和Mechlorethamine。附属组织包括B细胞和脾脏,相关表型为免疫系统和造血系统。
Related ID:
MALACARDS:LYM051
MESH:D008230
ICD11:1890408959
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
6
59
--
LYM051
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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