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Chronic hepatic porphyria

Disease definition

Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).

ORPHA:95161

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E80.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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