Qualitative Platelet Defect

Alias:
Qualitative Platelet Defects
Qualitative Platelet Deficiency
Granulopenic Thrombocytopathy
Dystrophic Thrombocytopathy
Haemorrhagic Thrombasthenia
Platelet Granule Defect
Thrombocytasthenia
Platelet Disorder
Thrombocytopathy
Platelet Defect
Thromboasthenia
Thrombopathy
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
质性血小板缺陷,又称质性血小板缺乏症,与血小板疾病、家族性血小板减少症、骨髓恶性肿瘤和因子V缺乏症有关。与质性血小板缺陷有关的重要基因是VWF(血管性血友病因子),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。在该疾病的背景下提到了蛋白质激酶抑制剂和酶抑制剂。附属组织包括骨髓和全血,相关表型为稳态/代谢和细胞。
Related ID:
ICD11:72474955

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
11
127
--

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!
微信
信息比对
科研助手
使用教程
回到顶部