Spastic Paraplegia 19, Autosomal Dominant (SPG19)

Alias:
Spg19
Autosomal Dominant Spastic Paraplegia Type 19
Hereditary Spastic Paraplegia 19
Autosomal Dominant Spastic Paraplegia 19
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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19,常染色体显性,也称为spg19,与脊髓性肌萎缩症20,常染色体隐性,有关,症状包括尿急和异常锥体征。与脊髓性肌萎缩症19,常染色体显性有关的重要基因是SPG19(脊髓性肌萎缩症19(常染色体显性))。相关组织包括脊髓,相关表型为高反射和巴宾斯基征。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
9
55
1

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!
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