Charcot-Marie-Tooth Disease and Deafness (CMT1E)

Charcot-Marie-Tooth Disease and Deafness(来自ICD-11)
别称:
Charcot-Marie-Tooth Disease Type 1e
Cmt1e
Charcot-Marie-Tooth Disease Type 1
Hereditary Motor and Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Type I
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth Disease, Type 1e
Cmt1
Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant
Autosomal Dominant Charcot-Marie-Tooth Neuropathy and Deafness
Charcot-Marie-Tooth Disease and Deafness Autosomal Dominant
Charcot-Marie-Tooth Disease, Demyelinating, 1e
Hereditary Motor and Sensory Neuropathy Type I
Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Disease, Type Ie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease and Deafness, also known as charcot-marie-tooth disease type 1e, is related to charcot-marie-tooth disease type 1g and roussy-levy hereditary areflexic dystasia. An important gene associated with Charcot-Marie-Tooth Disease and Deafness is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include spinal cord and brain, and related phenotypes are sensorineural hearing impairment and decreased nerve conduction velocity
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相关ID:
MESH:D002607
ICD11:1207560843

基础信息

遗传方式
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参考文献
MALACARDS
AD
Infant
1-5/10000
50
438
248

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MGI
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