Related MeSH Hierarchy (4)
Diseases [C] » Digestive System Diseases [C06] » Liver Diseases » Porphyrias, Hepatic » Porphyria, Variegate
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Porphyrias, Hepatic » Porphyria, Variegate
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Porphyrias, Hepatic » Porphyria, Variegate
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Porphyrias » Porphyrias, Hepatic » Porphyria, Variegate
Description
An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. MeSH
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Phase 2 Indicated Drugs (2)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (1)
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UMLS Data
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