Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria
UroD drawn from PDB: 1URO.
Classification and external resources
ICD-10 E80.2 (ILDS E80.282)
ICD-9-CM 277.1
OMIM 176100
DiseasesDB 29123
MeSH D017121

Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).[1][2]:525

It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.[3] In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.

See also


  1. Phillips, JD; Whitby, FG; Stadtmueller, BM; Edwards, CQ; et al. (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". Translational Research. 149 (2): 85–91. doi:10.1016/j.trsl.2006.08.006. PMID 17240319.
  2. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
  3. "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary

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