Hepatoerythropoietic porphyria | |
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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).
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.