| H00211 | |
| H番号 | H00211 |
| 名称 | ヘモクロマトーシス |
| 概要 | Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06507 TGFB signaling nt06525(H00211) Ferroptosis |
| 病因遺伝子 | (HFE1) HFE [HSA:3077] [KO:K26535] (HFE2A) HJV [HSA:148738] [KO:K23100] (HFE2B) HAMP [HSA:57817] [KO:K23106] (HFE3) TFR2 [HSA:7036] [KO:K23910] (HFE4) SLC40A1 [HSA:30061] [KO:K14685] (HFE5) FTH1 [HSA:2495] [KO:K00522] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | デフェロキサミンメシル酸塩 [DR:D01186] |
| コメント | - |
| リンク | ICD-11: 5C64.1Y ICD-10: E83.1 MeSH: D006432 OMIM: 235200 602390 613313 604250 606069 615517 |
| 文献 | PMID:18061062 著者 Adams PC, Barton JC. タイトル Haemochromatosis. 雑誌 Lancet 370:1855-60 (2007) DOI:10.1016/S0140-6736(07)61782-6 PMID:16019461 著者 Franchini M, Veneri D. タイトル Hereditary hemochromatosis. 雑誌 Hematology 10:145-9 (2005) DOI:10.1080/10245330500065771 PMID:15747119 著者 Franchini M, Veneri D. タイトル Recent advances in hereditary hemochromatosis. 雑誌 Ann Hematol 84:347-52 (2005) DOI:10.1007/s00277-005-1006-8 PMID:8696333 (HFE) 著者 Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK タイトル A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 雑誌 Nat Genet 13:399-408 (1996) DOI:10.1038/ng0896-399 PMID:14647275 (HJV) 著者 Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP タイトル Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. 雑誌 Nat Genet 36:77-82 (2004) DOI:10.1038/ng1274 PMID:12469120 (HAMP) 著者 Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C タイトル Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 雑誌 Nat Genet 33:21-2 (2003) DOI:10.1038/ng1053 PMID:10802645 (TFR2) 著者 Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P タイトル The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. 雑誌 Nat Genet 25:14-5 (2000) DOI:10.1038/75534 PMID:11431687 (SLC40A1) 著者 Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P タイトル A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. 雑誌 Nat Genet 28:213-4 (2001) DOI:10.1038/90038 PMID:11389486 (FTH1) 著者 Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, Niitsu Y タイトル A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. 雑誌 Am J Hum Genet 69:191-7 (2001) DOI:10.1086/321261 |