Neha Patil (Editor)

Hepatoerythropoietic porphyria

Updated on
Edit
Like
Comment
Share on FacebookTweet on TwitterShare on LinkedInShare on Reddit
ICD-10
  
E80.2 (ILDS E80.282)

OMIM
  
176100

MeSH
  
D017121

ICD-9-CM
  
277.1

DiseasesDB
  
29123

Hepatoerythropoietic porphyria

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