Hereditary Spastic Paraplegia 23 (SPG23)

Alias:
Spastic Paraplegia 23
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome
Spastic Paraplegia with Pigmentary Abnormalities
Lison Syndrome
Spg23
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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23型,也称为痉挛性截瘫23型,是与遗传性痉挛性截瘫和痉挛性截瘫23型相关的,是常染色体隐性遗传病。与遗传性痉挛性截瘫23型有关的重要基因是DSTYK(双丝氨酸/苏氨酸和酪氨酸蛋白激酶)。相关表型为高反射和智力障碍,轻度
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
35
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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