Charcot-Marie-Tooth Disease and Deafness (CMT1E)

Alias:

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

Related ID：

MALACARDS：CHR629

OMIM：118300

MESH：D002607

ICD11：1207560843