| H00201 | |
| H number | H00201 |
| Name | Erythropoietic porphyria |
| Description | Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Afamelanotide acetate [DR:D11334] |
| Comment | - |
| Other DBs | ICD-11: 5C58.12 ICD-10: E80.0 MeSH: D017092 OMIM: 177000 618015 263700 176100 300752 |
| Reference | PMID:18537592 AUTHORS Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H TITLE Erythropoietic porphyrias: animal models and update in gene-based therapies. JOURNAL Curr Gene Ther 8:176-86 (2008) DOI:10.2174/156652308784746477 PMID:11117426 AUTHORS Gross U, Hoffmann GF, Doss MO TITLE Erythropoietic and hepatic porphyrias. JOURNAL J Inherit Metab Dis 23:641-61 (2000) DOI:10.1023/A:1005645624262 PMID:16385445 (EPP1) AUTHORS Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC TITLE Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. JOURNAL Am J Hum Genet 78:2-14 (2006) DOI:10.1086/498620 PMID:15574461 (EPP1) AUTHORS Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S TITLE Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. JOURNAL Hum Mol Genet 14:327-34 (2005) DOI:10.1093/hmg/ddi029 PMID:28874591 (EPP2) AUTHORS Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH TITLE Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. JOURNAL Proc Natl Acad Sci U S A 114:E8045-E8052 (2017) DOI:10.1073/pnas.1700632114 PMID:8829650 (CEP) AUTHORS Xu W, Astrin KH, Desnick RJ TITLE Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. JOURNAL Hum Mutat 7:187-92 (1996) DOI:10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8 PMID:2920211 (HEP) AUTHORS Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP TITLE A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. JOURNAL Blood 73:892-5 (1989) DOI:10.1182/blood.V73.4.892.892 PMID:21653323 (XLDPP) AUTHORS To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H TITLE ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. JOURNAL Blood 118:1443-51 (2011) DOI:10.1182/blood-2011-03-342873 PMID:18760763 (XLDPP) AUTHORS Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H TITLE C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. JOURNAL Am J Hum Genet 83:408-14 (2008) DOI:10.1016/j.ajhg.2008.08.003 |