| H00201 | |
| H番号 | H00201 |
| 名称 | 骨髄性ポルフィリン症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C58.12 ICD-10: E80.0 MeSH: D017092 OMIM: 177000 618015 263700 176100 300752 |
| 文献 | PMID:18537592 著者 Richard E, Robert-Richard E, Ged C, Moreau-Gaudry F, de Verneuil H タイトル Erythropoietic porphyrias: animal models and update in gene-based therapies. 雑誌 Curr Gene Ther 8:176-86 (2008) DOI:10.2174/156652308784746477 PMID:11117426 著者 Gross U, Hoffmann GF, Doss MO タイトル Erythropoietic and hepatic porphyrias. 雑誌 J Inherit Metab Dis 23:641-61 (2000) DOI:10.1023/A:1005645624262 PMID:16385445 (EPP1) 著者 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 タイトル Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 雑誌 Am J Hum Genet 78:2-14 (2006) DOI:10.1086/498620 PMID:15574461 (EPP1) 著者 Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S タイトル Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. 雑誌 Hum Mol Genet 14:327-34 (2005) DOI:10.1093/hmg/ddi029 PMID:28874591 (EPP2) 著者 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 タイトル Mutation in human CLPX elevates levels of delta-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. 雑誌 Proc Natl Acad Sci U S A 114:E8045-E8052 (2017) DOI:10.1073/pnas.1700632114 PMID:8829650 (CEP) 著者 Xu W, Astrin KH, Desnick RJ タイトル Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene. 雑誌 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) 著者 Garey JR, Hansen JL, Harrison LM, Kennedy JB, Kushner JP タイトル A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. 雑誌 Blood 73:892-5 (1989) DOI:10.1182/blood.V73.4.892.892 PMID:21653323 (XLDPP) 著者 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 タイトル ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. 雑誌 Blood 118:1443-51 (2011) DOI:10.1182/blood-2011-03-342873 PMID:18760763 (XLDPP) 著者 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 タイトル C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. 雑誌 Am J Hum Genet 83:408-14 (2008) DOI:10.1016/j.ajhg.2008.08.003 |