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
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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
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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
<1/1000000
16
95
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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