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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
Hairy Cell Leukemia (HCL-V)
Alias:
Hairy Cell Leukemia Variant
Hcl-V
Hairy-Cell Leukaemia Without Mention of Remission
Prolymphocytic Variant of Hairy Cell Leukemia
Leukemic Reticuloendotheliosis Variant
Lre - [leukemic Reticuloendotheliosis]
Leukaemic Reticuloendotheliosis
Prolymphocytic Variant of Hcl
Hairy Cell Leukaemia Variant
Hcl - [hairy Cell Leukaemia]
Hairy-Cell Leukaemia, Nos
Leukemia, Hairy Cell
Leukemia Hairy Cell
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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
毛细胞白血病,也称为 hcl-v,与难治性毛细胞白血病和淋巴增殖综合症有关。与毛细胞白血病相关的重要基因是 IGHV4-34(免疫球蛋白重链变量 4-34),其相关通路/超级通路包括先天免疫系统和 ERK 信号通路。在该疾病的背景下提到了药物克拉屈滨和保护剂。附属组织包括骨髓和 B 细胞,相关表型为 shRNA 富集增加(Z 分数 > 2)和免疫系统。
Related ID:
MALACARDS:HRY003
MESH:D007943
ICD11:82152208
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
1-9/1000000
28
308
--
HRY003
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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