Hepatoerythropoietic porphyria

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Hepatoerythropoietic porphyria
Classification and external resources
Uroporphyrinogen III decarboxylase.png
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.

See also[edit]

References[edit]

  1. ^ Phillips JD, Whitby FG, Stadtmueller BM, Edwards CQ, Hill CP, Kushner JP (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". Transl Res 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

External links[edit]