Charcot-Marie-Tooth Disease, Axonal, Type 2b (CMT2B)

Alias:
Cmt2b
Charcot-Marie-Tooth Disease, Type 2b
Charcot-Marie-Tooth Disease Type 2b
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
Hmsn Iib
Hmsn2b
Hereditary Motor and Sensory Neuropathy Iib
Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
Peripheral Sensory Neuropathy Autosomal Dominant
Charcot-Marie-Tooth Disease Neuronal Type 2b
Hereditary Motor and Sensory Nueropathy Iib
Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Neuropathy, Type 2b
Charcot-Marie-Tooth Disease, Axonal, 2b
Psn
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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病,轴突型2b,也称为cmt2b,与轴突性周围神经病和Charcot-Marie-Tooth病,轴突型2p有关。与Charcot-Marie-Tooth病,轴突型2b有关的重要基因是RAB7A(RAB7A,RAS癌基因家族成员),其相关通路/超级通路包括囊泡介导的运输和高尔基体至内质网的逆行运输。附属组织包括皮肤和周围神经,相关表型包括足弓凹陷和肌束颤动。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
青少年
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24
166
26

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
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No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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