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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
Refractory Anemia
Alias:
Rars-T [refractory Anaemia with Ringed Sideroblasts Associated with Marked Thrombocytosis]
Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts
Raeb - [refractory Anaemia with Excess Blasts] Nos
Raeb - [refractory Anaemia with Excess Blasts]
Acquired Idiopathic Sideroblastic Anaemia
Refractory Anaemia Without Sideroblasts
Primary Acquired Sideroblastic Anaemia
Refractory Anaemia with Excess Blasts
Refractory Anaemia with Sideroblasts
Refractory Sideroblastic Anaemia
Refractory Anemias
Anemia Refractory
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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
难治性贫血,又称为环状铁粒幼红细胞性难治性贫血伴明显血小板增多症,与获得性特发性铁粒幼红细胞性贫血和难治性贫血伴过多原始细胞有关。与难治性贫血相关的基因是TET2(Tet甲基胞嘧啶氧化酶2),其相关通路/超级通路包括造血干细胞和特异性标记物。在该疾病的背景下提到了多巴胺和柠檬酸镁。附属组织包括骨髓和骨,相关表型为骨髓增生异常和生产不足性贫血。
Related ID:
MALACARDS:RFR010
ICD11:149518956
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
婴儿期
--
6
56
--
RFR010
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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