Hepatoerythropoietic porphyria
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| Hepatoerythropoietic porphyria | |
|---|---|
| Classification and external resources | |
 UroD drawn from PDB 1URO. |
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| 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.
[edit] See also
[edit] References
- ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S1931-5244(06)00352-5.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary
[edit] External links
- Hepatoerythropoietic porphyria at NLM Genetics Home Reference
- Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases
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