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
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (FTDALS1)
Alias:
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia
Frontotemporal Dementia and/or Motor Neuron Disease
Frontotemporal Dementia with Motor Neuron Disease
Ftdals1
Ftdmnd
Alsftd
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-1
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1
Amyotrophic Lateral Sclerosis with Frontotemporal Dementia 1
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis/frontotemporal Dementia
Grn-Related Frontotemporal Dementia
Frontotemporal Lobar Degeneration
Ftd-Als
Ftd-Mnd
Ftdals
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
额颞叶痴呆和/或肌萎缩侧索硬化1,也称为肌萎缩侧索硬化和/或额颞叶痴呆,与额颞叶痴呆和/或肌萎缩侧索硬化2和额颞叶痴呆和/或肌萎缩侧索硬化3有关,症状包括肌肉无力、偏瘫和锥体外系运动功能异常。与额颞叶痴呆和/或肌萎缩侧索硬化1有关的重要基因是C9orf72(C9orf72-SMCR8复合物亚基),其相关通路/超级通路包括神经科学和涉及-分泌酶的神经退行性疾病。在该疾病的背景下,已提到的药物包括多巴胺和美金刚。相关组织包括颞叶和大脑,相关表型为上运动神经元形态异常和额颞叶痴呆。
Related ID:
MALACARDS:FRN044
OMIM:105550
MESH:D000690
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
69
736
93
FRN044
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