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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
Congenital Hemolytic Anemia
Alias:
Anemia, Hemolytic, Congenital
Congenital Hemolytic Anaemia
Hereditary Hemolytic Anaemia
Hereditary Hemolytic Anemia
Anemia Hemolytic Congenital
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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
先天性溶血性贫血,又称贫血、溶血性、先天性,与先天性红细胞生成异常性贫血和遗传性球形细胞增多症有关。与先天性溶血性贫血有关的重要基因是SPTA1(红细胞α-血影蛋白1),其相关通路/超级通路包括透明细胞肾细胞癌通路和L1与Ankyrins之间的相互作用。在该疾病的背景下提到了苯佐卡因和Mitapivat。附属组织包括骨髓和骨,相关表型为稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:CNG027
MESH:D000745
ICD11:1909380523
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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39
301
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CNG027
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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