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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
Thrombocytopenia
Alias:
Platelet Dysfunction Nos
Decreased Platelets
Low Platelet Count
Low Platelets
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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
血小板减少症,又称血小板功能障碍,与免疫性血小板减少症和巨核细胞血小板减少症、先天性血小板减少症有关。与血小板减少症相关的重要基因是ANKRD26(Ankyrin Repeat Domain Containing 26),其相关通路/超级通路包括信号转导和对血小板胞质内Ca2+升高的反应。在该疾病的背景下,已提到的药物有克拉霉素和阿莫西林。相关组织包括骨髓和骨,相关表型为稳态/代谢和免疫系统。
Related ID:
MALACARDS:THR014
MESH:D013921
ICD11:683583694
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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301
3335
7
THR014
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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