Charcot-Marie-Tooth Disease, Axonal, Type 2v (CMT2V)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2v

Cmt2v

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

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v

Charcot-Marie-Tooth Neuropathy, Type 2v

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

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

Hereditary Adult-Onset Painful Axonal Polyneuropathy

Charcot-Marie-Tooth Disease, Axonal, 2v

Charcot-Marie-Tooth Neuropathy Type 2v

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2v, also known as charcot-marie-tooth disease axonal type 2v, is related to mucopolysaccharidosis, type ii and mucopolysaccharidosis, type iiib. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2v is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include liver, and related phenotypes are lower limb pain and impaired vibratory sensation

Related ID：

MALACARDS：CHR548

OMIM：616491

MESH：D002607