Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Porphyrias » Porphyria, Erythropoietic
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Porphyria, Erythropoietic
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Porphyria, Erythropoietic
Description
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS. MeSH
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Organization Involved with Phase 3 Indications (4)
Organization Involved with Phase 2 Indications (10)
Organization Involved with Phase 1 Indications (5)
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UMLS Data
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