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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
Severe Combined Immunodeficiency (SCID)
Alias:
Severe Combined Immunodeficiency Disease
Scid
Combined T and B Cell Inborn Immunodeficiency
Scid - [severe Combined Immunodeficiencies]
Immunodeficiency, Severe Combined
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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
严重联合免疫缺陷,也称为 scid,与严重联合免疫缺陷,X 连锁和严重联合免疫缺陷,常染色体隐性,T 细胞阴性,B 细胞阳性,NK 细胞阴性有关。与严重联合免疫缺陷有关的重要基因是 DCLRE1C (DNA Cross-Link Repair 1C),其相关通路/超通路包括先天免疫系统和免疫系统中的细胞因子信号转导。在该疾病的背景下提到了 gamma-球蛋白和免疫球蛋白 G。附属组织包括血液、T 细胞和 B 细胞,相关表型为乳腺囊泡形成减少和内分泌/外分泌腺。
Related ID:
MALACARDS:SVR004
MESH:D016511
ICD11:963193284
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X显
新生儿
1-9/100000
145
1826
154
SVR004
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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