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
Alpha-Thalassemia Myelodysplasia Syndrome (ATMDS)
Alias:
Acquired Hemoglobin H Disease
Atmds
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic
Alpha-Thalassemia-Myelodysplastic Syndrome
Acquired Hbh Disease
Acquired Alpha-Thalassemia with Myelodysplastic Syndrome
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
Hemoglobin H Disease, Acquired
Hemoglobin H Disease Acquired
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
α-地中海贫血/骨髓增生异常综合症,也称为获得性血红蛋白H病,与溶血性贫血和缺铁性贫血有关。与α-地中海贫血/骨髓增生异常综合症相关的基因是ATRX(ATRX染色质重塑器),其相关通路/超级通路包括Kleefstra综合症和DAXX突变导致的端粒DNA重组抑制缺陷。相关组织包括髓系,相关表型包括疲劳和小细胞贫血。
Related ID:
MALACARDS:ALP013
OMIM:300448
MESH:C563023
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
<1/1000000
16
95
3
ALP013
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