Charcot-Marie-Tooth Disease, Axonal, Type 2e (CMT2E)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Type 2

Cmt2e

Cmt2s

Cmt2y

Hereditary Motor and Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Neuropathy Type 2e

Charcot-Marie-Tooth Disease, Type 2y

Charcot-Marie-Tooth Disease Type 2s

Cmt2 Due to Vcp Mutation

Cmt2

Hereditary Motor and Sensory Neuropathy Guadalajara Neuronal Type

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Hereditary Motor and Sensory Neuropathy Okinawa Type

Hereditary Motor and Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Neuropathy, Type 2e

Charcot-Marie-Tooth Disease, Axonal, 2e

Charcot-Marie-Tooth Disease, Axonal, 2s

Charcot-Marie-Tooth Disease, Axonal, 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Disease, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2e, also known as charcot-marie-tooth disease axonal type 2s, is related to charcot-marie-tooth disease, axonal, type 2t and charcot-marie-tooth disease, axonal, type 2u. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways are tRNA Aminoacylation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include heart and tongue, and related phenotypes are gait disturbance and upper limb muscle weakness

Related ID：

MALACARDS：CHR654

OMIM：607684

MESH：D002607

ICD11：403896648