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
Spastic Paraplegia 15, Autosomal Recessive (SPG15)
Alias:
Spg15
Kjellin Syndrome
Hereditary Spastic Paraplegia 15
Spastic Paraplegia-Retinal Degeneration Syndrome
Autosomal Recessive Spastic Paraplegia Type 15
Spastic Paraplegia and Retinal Degeneration
Hereditary Spastic Paraparesis Type 15
Autosomal Recessive Spastic Paraplegia 15
Paraplegia, Spastic, Type 15
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
脊髓性肌萎缩症15型,常染色体隐性,也称为spg15,与马斯特综合症和脊髓性肌萎缩症有关,症状包括共济失调、痉挛和尿急。与脊髓性肌萎缩症15型,常染色体隐性相关的基因是ZFYVE26(锌指FYVE型包含26)。相关组织包括小脑和视网膜,相关表型是大脑半球发育不全和智力障碍。
Related ID:
MALACARDS:SPS125
OMIM:270700
MESH:D015419
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
16
82
21
SPS125
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