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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, Familial, 2 (FHL2)
Alias:
Familial Hemophagocytic Lymphohistiocytosis 2
Hplh2
Fhl2
Hlh2
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility to
Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
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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2,也称为家族性噬血细胞淋巴组织增生症2,与免疫缺陷51和免疫缺陷55有关,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2有关的重要基因是PRF1(穿孔素1)。相关组织包括骨髓和T细胞,相关表型为共济失调和肝大。
Related ID:
MALACARDS:HMP012
OMIM:603553
MESH:D051359
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
18
105
97
HMP012
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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