Autoimmune Lymphoproliferative Syndrome (ALPS)

Alias:
Alps
Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type Ia
Autoimmune Lymphoproliferative Syndrome, Type Ib
Autoimmune Lymphoproliferative Syndrome, Type 1b
Autoimmune Lymphoproliferative Syndrome, Type 1a
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome Type Ia
Autoimmune Lymphoproliferative Syndrome Type Ib
Autoimmune Lymphoproliferative Syndrome Type 1
Autoimmune Lymphoproliferative Syndrome 1a
Autoimmune Lymphoproliferative Syndrome 1b
Alps1a
Alps1b
Css
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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
自身免疫性淋巴增殖症,也称为ALPS,与caspase 8缺陷和ras相关的自身免疫性白血病增殖症有关。与自身免疫性淋巴增殖症有关的重要基因是FASLG(Fas配体),其相关通路/超级通路包括先天免疫系统和滑膜成纤维细胞的凋亡通路。在该疾病的背景下提到了氨氯地平和血管扩张剂。附属组织包括脾脏和肝脏,相关表型为脾肿大和自身免疫。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
全年龄段
--
85
1067
125

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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