Disease

Porphyria

About the Disease
Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and familial porphyria cutanea tarda, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Deferasirox and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and liver, and related phenotypes are abnormal urinary color and abnormal circulating porphyrin concentration

Common Targets
ALAS2 | ABCB6 | PPOX | UROD | HMBS | MC1R | CPOX

疾病靶点研报
Porphyria

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