Hemophagocytic Lymphohistiocytosis, Familial, 1 (FHL1)

Alias:
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytic Syndrome
Familial Erythrophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphohistiocytosis 1
Primary Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Lymphocytosis
Familial Hlh
Hplh1
Fhl1
Hlh1
Fhl
Fel
Familial Hemophagocytic Lymphohistiocytosis Type 1
Erythrophagocytic Lymphohistiocytosis, Familial
Hemophagocytic Lymphohistiocytosis, Familial
Primary Hemophagocytic Hymphohistiocytosis
Genetic Hemophagocytic Lymphohistiocytosis
Familial Hemophagocytic Histiocytosis
Hemophagocytic Reticulosis, Familial
Familial Hemophagocytic Reticulosis
Hemophagocytic Lymphohistiocytosis
Reticulosis, Familial Histiocytic
Fhlh
Hplh
Hlh
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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
家族性噬血细胞淋巴组织增生症1型,也称为家族性噬血细胞淋巴组织增生症4型和淋巴增殖综合征1型,其症状包括共济失调、偏瘫和黄疸。与家族性噬血细胞淋巴组织增生症1型相关的基因是UNC13D(Unc-13同源D),其相关通路/超级通路包括膀胱癌中Rab和Rab效应基因的失衡和wtCFTR和deltaF508交通/晚期内体和溶酶体(正常和CF)。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,相关表型为发热和贫血。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
1-9/100000
24
168
233

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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