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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
非罕见病
Mannose-Binding Lectin Deficiency (MBLD)
Alias:
Mannose-Binding Protein Deficiency
Mbl Deficiency
Mbl2 Deficiency
Mbp Deficiency
Lectin Complement Activation Pathway, Defect in, 1
Chronic Infections, Due to Mbl Deficiency
Mannose-Binding Lectin Protein Deficiency
Lcapd1
Mbld
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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
甘露糖结合凝集素缺乏症,也称为甘露糖结合蛋白缺乏症,与支气管扩张和脑膜炎有关。与甘露糖结合凝集素缺乏症相关的基因是MBL2(甘露糖结合凝集素2),其相关通路/超级通路包括Toll样受体信号通路。在该疾病的背景下提到了 Lectins 这种药物。附属组织包括肝脏和皮肤,相关表型为生长发育迟缓和反复皮肤感染
Related ID:
MALACARDS:MNN034
OMIM:614372
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
19
27
MNN034
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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