ICD-10 E80.2 (ILDS E80.282) OMIM 176100 MeSH D017121 | ICD-9-CM 277.1 DiseasesDB 29123 | |
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Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).
It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset. In classifications which define PCT type 1 as "sporadic" and PCT type 2 as "familial", hepatoerythropoietic porphyria is more similar to type 2.
References
Hepatoerythropoietic porphyria Wikipedia(Text) CC BY-SA