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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2b, also known as cmt2b, is related to axonal neuropathy and charcot-marie-tooth disease, axonal, type 2p. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include skin and peripheral nerve, and related phenotypes are pes cavus and fasciculations

Related ID：

MALACARDS：CHR646

OMIM：600882

MESH：C537989