Storage Pool Platelet Disease

Storage Pool Platelet Disease(来自ICD-11)
别称:
Platelet Storage Pool Deficiency
Storage Pool Disease of Platelets
Platelet Dense Granule Deficiency
Platelet Storage Pool Defect
Dense Body Defect
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Storage Pool Platelet Disease, also known as platelet storage pool deficiency, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 9. An important gene associated with Storage Pool Platelet Disease is GFI1B (Growth Factor Independent 1B Transcriptional Repressor), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. The drugs Pirfenidone and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are myelodysplasia and acute leukemia
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
AD
Unknown
--
14
190
12

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top