Charcot-Marie-Tooth Disease, Axonal, Type 2w (CMT2W)

Alias:

Cmt2w

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w

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

Charcot-Marie-Tooth Disease, Axonal Type 2w

Charcot-Marie-Tooth Neuropathy, Type 2w

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

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w

Charcot-Marie-Tooth Disease, Axonal, 2w

Charcot-Marie-Tooth Neuropathy Type 2w

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2w, also known as cmt2w, is related to charcot-marie-tooth disease, axonal, type 2e and bagassosis. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2w is HARS1 (Histidyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include bone and peripheral nerve, and related phenotypes are distal lower limb muscle weakness and demyelinating peripheral neuropathy

Related ID：

MALACARDS：CHR544

OMIM：616625

MESH：D002607