Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
Hereditary Spherocytosis (HS)
Alias:
Congenital Spherocytic Hemolytic Anemia
Minkowski-Chauffard Disease
Spherocytosis, Type 1
Spherocytic Anemia
Anemia, Hereditary Spherocytic Hemolytic
Minkowski Chauffard Syndrome
Minkowski-Chauffard Syndrome
Spherocytosis, Hereditary
Congenital Spherocytosis
Spherocytosis Hereditary
Hs
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
遗传性球形红细胞增多症,又称先天性球形红细胞溶血性贫血,与球形红细胞增多症、类型1和胆红素代谢障碍有关,症状包括黄疸。与遗传性球形红细胞增多症有关的重要基因是SPTB(红细胞β-肌动蛋白),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L1和Ankyrins之间的相互作用。在该疾病的背景下,已提到过木瓜和抗氧化剂。附属组织包括脾脏和皮肤,相关表型为红细胞渗透脆性增加和肌肉无力。
Related ID:
MALACARDS:HRD011
MESH:D013103
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
全年龄段
1-5/10000
48
310
6
HRD011
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!
微信
信息比对
科研助手
使用教程
回到顶部