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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
Bare Lymphocyte Syndrome, Type I (BLS1)
Alias:
Mhc Class I Deficiency
Hla Class I Deficiency
Bare Lymphocyte Syndrome Type 1
Immunodeficiency by Defective Expression of Mhc Class I
Bare Lymphocyte Syndrome Type I
Bls, Type I
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency
Bare Lymphocyte Syndrome 1
Mhc Class 1 Deficiency
Bls Type I
Bls I
Blsi
Bls1
Bl-1
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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
裸淋巴细胞综合症I型,也称为MHC类I缺乏,与裸淋巴细胞综合症II型和免疫缺陷病有关。与裸淋巴细胞综合症I型有关的重要基因是TAP1(ATP结合盒超家族B成员1,转运体1),其相关通路/超级通路包括先天性免疫系统和MHC类I介导的抗原处理和呈递。相关组织包括皮肤和肺,相关表型包括慢性中耳炎和皮肤溃疡。
Related ID:
MALACARDS:BRL011
OMIM:604571
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
<1/1000000
31
290
12
BRL011
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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