5C58.12

ICD-11 MMS 2026-01

Erythropoietic porphyrias

Description

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.

Index terms

  • Erythropoietic porphyrias
  • Erythropoietic protoporphyria
  • EPP - [erythropoietic protoporphyria]
Show allHide
  • Ferrochelatase deficiency
  • Heme synthetase deficiency
  • 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

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
Show allHide
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

Foundation entity

Erythropoietic porphyrias – http://id.who.int/icd/entity/1074667008

Part of: 5C58.1: Porphyrias › 5C58: Inborn errors of porphyrin or heme metabolism › 05: Endocrine, nutritional or metabolic diseases