Disease

Charcot-Marie-Tooth Disease Type 4

About the Disease
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive, also known as charcot-marie-tooth disease type 4e, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, demyelinating, type 1a. An important gene associated with Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive is EGR2 (Early Growth Response 2), and among its related pathways/superpathways are PI Metabolism and Neural crest differentiation. The drugs Ascorbic acid and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, dorsal root ganglion and spinal cord, and related phenotypes are respiratory insufficiency and neonatal hypotonia

Common Targets
AIFM1 | SH3TC2 | FGD4 | ACAN | SBF2 | NDRG1 | CYP2R1 | MTMR2 | HK1 | SBF1 | SURF1 | FIG4 | SCO2

疾病靶点研报
Charcot-Marie-Tooth Disease Type 4

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