Primary Erythromelalgia

About the Disease
Erythromelalgia, also known as primary erythromelalgia, is related to erythermalgia, primary and essential thrombocythemia, and has symptoms including constipation, diarrhea and pruritus. An important gene associated with Erythromelalgia is SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9), and among its related pathways/superpathways are Nervous system development and Activation of cAMP-Dependent PKA. The drugs Carbamazepine and Sodium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and brain, and related phenotypes are peripheral neuropathy and erythema

Common Targets
SCN3A | NMNAT2 | SCN9A | SCN1A-AS1 | MAOB

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