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:
MESH:D051359
ICD11:1523519942

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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53
594
76

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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