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
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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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
16
82
21

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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