Spastic Paraplegia 64, Autosomal Recessive (SPG64)

Alias:
Hereditary Spastic Paraplegia 64
Spg64
Autosomal Recessive Spastic Paraplegia Type 64
Paraplegia, Spastic, Type 64, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia 64
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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64型,常染色体隐性,也称为遗传性痉挛性截瘫64型,与常染色体隐性痉挛性截瘫82型和常染色体隐性痉挛性截瘫20型有关。与遗传性痉挛性截瘫64型,常染色体隐性相关的基因是ENTPD1(外核苷三磷酸二磷酸酶1),其相关通路/超级通路包括核苷代谢和ATP/ITP代谢。相关组织包括脑和骨骼肌,相关表型为痉挛和构音障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
13
70
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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