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).[2][3]: 525
| Hepatoerythropoietic porphyria | |
|---|---|
| Other names | HEP[1] |
 | |
| UroD drawn from PDB: 1URO. | |
| Specialty | Dermatology, gastroenterology, medical genetics, endocrinology  |
It has a similar presentation to porphyria cutanea tarda (PCT), but with earlier onset.[4] 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
References
- "Hepatoerythropoietic porphyria | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 17 April 2019.
- Phillips, JD; Whitby, FG; Stadtmueller, BM; Edwards, CQ; et al. (February 2007). "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)". Translational Research. 149 (2): 85–91. doi:10.1016/j.trsl.2006.08.006. PMID 17240319.
- James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- "hepatoerythropoietic porphyria" at Dorland's Medical Dictionary
External links
- Hepatoerythropoietic porphyria at NLM Genetics Home Reference
- Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases
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