Charcot-Marie-Tooth Disease Intermediate Type

Alias:
Intermediate Charcot-Marie-Tooth Disease
Intermediate Hereditary Motor and Sensory Neuropathy
Charcot-Marie-Tooth Disease Recessive Intermediate
Charcot-Marie-Tooth Disease Dominant Intermediate
Charcot-Marie-Tooth Disease, Intermediate Type
Charcot-Marie-Tooth, Intermediate
Intermediate Cmt
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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
Charcot-Marie-Tooth Disease Intermediate Type,也称为中间型Charcot-Marie-Tooth病,与Charcot-Marie-Tooth病、隐性中间型D和隐性中间型C有关。与中间型Charcot-Marie-Tooth病相关的重要基因是YARS1(酪氨酰tRNA合成酶1),其相关通路/超通路包括蛋白质代谢和肽链延长。
Related ID:
ICD11:1389094589

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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19
114
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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

Name
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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