Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
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
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
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:
MALACARDS:SCT005
OMIM:262890
MESH:C563120
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
SCT005
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