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
Progressive Muscular Atrophy (PMA)
Alias:
Progressive Spinal Muscular Atrophy
Pure Progressive Muscular Atrophy
Hereditary Sma - [spinal Muscle Atrophy]
Pma - [progressive Muscular Atrophy]
Progressive Spinal Muscle Atrophy
Hereditary Spinal Muscle Atrophy
Duchenne-Aran Muscle Atrophy
Progressive Muscle Atrophy
Duchenne-Aran Atrophy
Pma
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
进行性肌营养不良,也称为进行性脊髓肌萎缩,与脊髓性肌萎缩、I型和远端遗传性运动神经病、常染色体显性8型有关。与进行性肌营养不良有关的重要基因是CAPN3(钙蛋白酶3),其相关通路/超级通路包括神经科学和物理化学特性以及毒性相关通路。在该疾病的背景下提到了利福昔明和神经营养药物。附属组织包括骨髓和骨骼肌,相关表型为神经系统和稳态/代谢。
Related ID:
MALACARDS:PRG001
MESH:D009134
ICD11:1282359533
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
21
262
--
PRG001
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