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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
Hemophagocytic Lymphohistiocytosis
Alias:
Lymphohistiocytosis, Hemophagocytic
Haemophagocytic Syndrome
Histiocytoses of Mononuclear Phagocytes
Haemophagocytic Lymphohistiocytosis Nos
Familial Hemophagocytic Lymphocytosis
Lymphohistiocytosis Hemophagocytic
Hemophagocytic Syndrome
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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
血细胞吞噬性淋巴细胞增多症,也称为淋巴细胞吞噬性增多症,与家族性血细胞吞噬性淋巴细胞增多症1型和家族性血细胞吞噬性淋巴细胞增多症4型有关,症状包括共济失调、偏瘫和黄疸。与血细胞吞噬性淋巴细胞增多症相关的基因是UNC13D(Unc-13同源D),其相关通路/超级通路包括Akt信号通路和免疫系统中的细胞因子信号通路。在该疾病的背景下,已提到的药物有地塞米松和地塞米松醋酸酯。相关组织包括骨髓和T细胞,相关表型为生长/大小/身体部位和细胞。
Related ID:
MALACARDS:HMP002
MESH:D051359
ICD11:1523519942
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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53
594
76
HMP002
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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