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
Beta-Thalassemia (B-THAL)
Alias:
Beta Thalassemia
Mediterranean Anemia
Cooley's Anemia
Erythroblastic Anemia
Beta-Plus-Thalassemia
Thalassemia, Beta
Thalassemia Minor
Thalassemia Major
Thalassemia, Hispanic Gamma-Delta-Beta
Beta Thalassemia Intermedia
Beta Thalassaemia Syndrome
Beta-Thalassemia Hbb/lcrb
Beta Thalassaemia Disease
Thalassemia, Beta Type
Mediterranean Anaemia
Mediterranean Disease
B-Thal
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
β-地中海贫血,也称为β地中海贫血,与血红蛋白e-β地中海贫血综合征和β地中海贫血,显性包涵体类型有关。与β地中海贫血相关的基因是HBB(血红蛋白亚基β),其相关通路/超级通路包括对血小板胞质Ca2+升高的反应和高尔基体至内质网的逆行运输。在该疾病的背景下提到了Peginterferon alfa-2a和Peginterferon alfa-2b这两种药物。附属组织包括肝脏和脾脏,相关表型为脾肿大和贫血。
Related ID:
MALACARDS:BTT014
OMIM:613985
MESH:D017086
ICD11:2063292324
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
婴儿期
1-5/10000
80
925
628
BTT014
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