Orphanet: Hepatoerythropoietic porphyria

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Hepatoerythropoietic porphyria

Disease definition

Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.


  • Synonym(s):
    • HEP
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E80.2
  • OMIM: 176100
  • UMLS: C0162569  C0268324
  • MeSH: D017121
  • GARD: 6169
  • MedDRA: -

Detailed information


Additional information

Further information on this disease

Specialised Social Services

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