Orphanet: Porphyria

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Disease definition

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E80.0  E80.1  E80.2
  • OMIM: -
  • UMLS: C0032708  C0235387
  • MeSH: D011164
  • GARD: 10353
  • MedDRA: 10036181  10061356

Detailed information


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