Erythropoietic Protoporphyria

About the Disease
Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to x-linked protoporphyria and porphyria, congenital erythropoietic, and has symptoms including edema, pruritus and burning sensation. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Colestipol and Afamelanotide have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are erythema and cutaneous photosensitivity

Common Targets
FECH | HRH2 | ALAS2 | SLC6A9 | UROD | MC1R | Melanocortin receptor (nonspecified subtype)

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