Agammaglobulinemia, X-Linked (XLA)

Alias:
X-Linked Agammaglobulinemia
Bruton Type Agammaglobulinemia
Xla
Bruton-Type Agammaglobulinemia
Agammaglobulinemia, X-Linked 1
Bruton's Agammaglobulinemia
Hypogammaglobulinemia
Agammaglobulinemia
Btk-Deficiency
Agmx1
Imd1
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency
Bruton's Sex-Linked Agammaglobulinemia
Agammaglobulinemia, X-Linked, Type 1
X-Linked Agammaglobulinemia Type 1
Bruton's Type Agammaglobulinemia
Congenital Agammaglobulinemia
Bruton's Agammaglobulinaemia
Immunodeficiency Type 1
Immunodeficiency 1
Bruton Disease
Btk Deficiency
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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
X-连锁无丙种球蛋白血症,又名X连锁无丙种球蛋白血症,与常染色体无丙种球蛋白血症和常染色体隐性无丙种球蛋白血症4有关,症状包括腹泻。与X-连锁无丙种球蛋白血症有关的重要基因是BTK(布鲁顿酪氨酸激酶),其相关通路/超级通路包括先天性免疫系统和信号转导。在该疾病的背景下,已提到的药物有透明质酸和粘弹性补充剂。附属组织包括B细胞和骨髓,相关表型为发育不良和慢性中耳炎。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
孩童期
1-9/1000000
24
274
159

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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