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
Cutis Laxa
Alias:
Generalized Elastolysis
Cutis Laxa Syndrome
Dermatomegaly
Dermatolysis
Loose Skin
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
松弛性皮肤,也称为泛弹性溶解,与松弛性皮肤、常染色体显性2型和松弛性皮肤、常染色体显性3型有关,症状包括瘙痒。与松弛性皮肤有关的重要基因是PYCR1(脯氨酸-5-羧酸还原酶1),其相关通路/超级通路包括ERK信号通路和信号转导。在该疾病的背景下,提到的药物有肾上腺素和利多卡因。附属组织包括皮肤和骨骼,相关表型为肌肉和心血管系统。
Related ID:
MALACARDS:CTS001
MESH:D003483
ICD11:1227401566
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
常显
常隐
X染色体
未知
1-9/1000000
47
422
11
CTS001
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