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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
Acquired Idiopathic Sideroblastic Anemia (AISA)
Alias:
Refractory Anemia with Ringed Sideroblasts
Primary Acquired Sideroblastic Anemia
Aisa
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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
获得性特发性铁粒幼红细胞性贫血,也称为环状铁粒幼红细胞性难治性贫血,与线粒体肌病和多线粒体发育不良性难治性血细胞减少症有关。与获得性特发性铁粒幼红细胞性贫血相关的基因是MT-CO1(线粒体编码的细胞色素C氧化酶I),其相关通路/超级通路包括基因表达(转录)和TP53调节代谢基因。在该疾病的背景下提到了甲氨蝶呤和环磷酰胺。附属组织包括骨髓和髓系,相关表型为环状铁粒幼红细胞性难治性贫血和生产不足性贫血。
Related ID:
MALACARDS:ACQ031
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
3
26
1
ACQ031
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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