Spastic Paraplegia 77, Autosomal Recessive (SPG77)

Alias:
Hereditary Spastic Paraplegia 77
Spg77
Autosomal Recessive Spastic Paraplegia Type 77
Autosomal Recessive Spastic Paraplegia 77
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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
遗传性痉挛性截瘫77,常染色体隐性型,也称为fars2缺乏症和联合氧化磷酸化缺陷14。与遗传性痉挛性截瘫77,常染色体隐性型相关的基因是FARS2(线粒体苯丙氨酰-tRNA合成酶2)。相关表型为进行性痉挛性截瘫和癫痫发作。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
13
55
3

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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