Scott Syndrome (SCTS)

Alias:
Prothrombin Consumption Deficiency
Bdplt7
Scts
Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X
Bleeding Abnormality Due to Deficiency of Platelet Biding of Factor X
Prothrombin Consumption Inhibitor, Familial
Familial Prothrombin Consumption Inhibitor
Prothrombin Consumption Inhibitor Familial
Prothrombin Conversion Defect, Familial
Familial Prothrombin Conversion Defect
Prothrombin Conversion Defect Familial
Bleeding Disorder, Platelet-Type, 7
Platelet-Type Bleeding Disorder 7
Bleeding Disorder Platelet-Type 7
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
斯科特综合症,又称凝血酶原消耗缺乏症,与因子八缺乏症和出血性疾病有关。与斯科特综合症有关的重要基因是ANO6(无环蛋白6),其相关通路/超级通路包括传染病和无机离子/氨基酸/寡肽的运输。在该疾病的背景下提到了药物凝血酶。附属组织包括骨髓和脊髓,相关表型为异常出血和因子X激活缺乏。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
<1/1000000
20
139
20

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