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
非罕见病
Prekallikrein Deficiency (PKKD)
Alias:
Fletcher Factor Deficiency
Pkk Deficiency
Pkkd
Congenital Prekallikrein Deficiency
Inherited Prekallikrein Deficiency
Fletcher Factor Deficiency
Prekallikrein Deficiency
Fletcher Trait
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
凝血酶原激酶缺乏症,也称为弗莱彻因子缺乏症,与红细胞丙酮酸激酶缺乏症和因子十二缺乏症有关。与凝血酶原激酶缺乏症相关的基因是KLKB1(激肽释放酶B1),其相关通路/超级通路包括细胞质钙离子升高的反应和胶原链三聚体化。相关组织包括心脏和B细胞,相关表型为延长部分血浆凝血酶原时间以及循环中前激肽释放酶浓度降低。
Related ID:
MALACARDS:PRK005
OMIM:612423
MESH:D001778
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
3
18
22
PRK005
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