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5C58.12 Erythropoietic porphyrias

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.

synonyms

• Erythropoietic porphyrias
• Erythropoietic protoporphyria
• Ferrochelatase deficiency
• Heme synthetase deficiency
• EPP - [erythropoietic protoporphyria]
• Erythropoietic protoporphyria due to ferrochelatase deficiency
• EPP due to ferrochelatase deficiency
• FECH-deficient EPP
• Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
• EPP due to gain of function of erythroid-specific aminolevulinic acid synthase 3
• X-linked dominant protoporphyria
• X-linked protoporphyria
• XLDPP - [X-linked dominant protoporphyria]
• XLP - [X-linked protoporphyria]
• Congenital erythropoietic porphyria
• Günther disease
• Hereditary erythropoietic porphyria
• Uroporphyrinogen III synthase deficiency

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