Late-Infantile/juvenile Krabbe Disease

Alias:
Krabbe Disease, Late-Onset
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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
晚发性/青少年型克-拉贝病,又称晚发性克-拉贝病。与晚发性/青少年型克-拉贝病有关的重要基因是GALC(半乳糖脑苷脂酶)。相关组织包括眼睛,相关表型为CSF蛋白浓度增加和异常循环酶浓度或活性。
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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1
17
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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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