| Hepatoerythropoietic porphyria | |
|---|---|
| Classification and external resources | |
UroD drawn from PDB 1URO. |
|
| ICD-10 | E80.2 (ILDS E80.282) |
| ICD-9 | 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.
|
|||||||||||||||