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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
Pyropoikilocytosis, Hereditary (HPP)
Alias:
Hereditary Pyropoikilocytosis
Pyropoikilocytosis
Hpp
Pyropoikilocytosis Hereditary
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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
热性球形红细胞增多症,遗传性,又名遗传性热性球形红细胞增多症,与先天性溶血性贫血和遗传性球形红细胞增多症有关。与遗传性热性球形红细胞增多症相关的基因是SPTA1(红细胞α-血影蛋白1),与其相关的通路/超级通路有运输到高尔基体及其后续修饰和Sertoli-Sertoli细胞连接动力学。相关表型为溶血性贫血和椭圆形红细胞增多症。
Related ID:
MALACARDS:PYR040
OMIM:266140
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
17
35
PYR040
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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