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Autosomal erythropoietic protoporphyria

Disease definition

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

ORPHA:79278

  • Synonym(s):
    • EPP
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E80.0
  • OMIM: 177000
  • UMLS: C0162568
  • MeSH: D046351
  • GARD: 4527
  • MedDRA: 10015289

Detailed information

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