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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
Sea-Blue Histiocyte Disease (SBHD)
Alias:
Sea-Blue Histiocytosis
Sea-Blue Histiocyte Syndrome
Histiocytosis, Sea-Blue
Sbhd
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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
海蓝色巨噬细胞病,又称海蓝色巨噬细胞增生症,与脾肿大和尼曼-皮克病B型有关。与海蓝色巨噬细胞病相关的重要基因是APOE(载脂蛋白E),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及血浆脂蛋白的装配、重塑和清除。相关组织包括骨髓和骨,相关表型为脾肿大和肝肿大。
Related ID:
MALACARDS:SBL008
OMIM:269600
MESH:D012618
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
青少年
<1/1000000
9
85
16
SBL008
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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