Orphanet: Hepatoerythropoietic porphyria

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hepatoerythropoietic porphyria

Disease definition

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


Classification level: Disorder
  • 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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.