H00211 | |
H number | H00211 |
Name | Hemochromatosis |
Description | 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. |
Category | Inherited metabolic disorder |
Network | nt06507 TGFB signaling nt06525(H00211) Ferroptosis |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C64.1Y ICD-10: E83.1 MeSH: D006432 OMIM: 235200 602390 613313 604250 606069 615517 |
Reference | PMID:18061062 AUTHORS Adams PC, Barton JC. TITLE Haemochromatosis. JOURNAL Lancet 370:1855-60 (2007) DOI:10.1016/S0140-6736(07)61782-6 PMID:16019461 AUTHORS Franchini M, Veneri D. TITLE Hereditary hemochromatosis. JOURNAL Hematology 10:145-9 (2005) DOI:10.1080/10245330500065771 PMID:15747119 AUTHORS Franchini M, Veneri D. TITLE Recent advances in hereditary hemochromatosis. JOURNAL Ann Hematol 84:347-52 (2005) DOI:10.1007/s00277-005-1006-8 PMID:8696333 (HFE) AUTHORS 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 TITLE A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. JOURNAL Nat Genet 13:399-408 (1996) DOI:10.1038/ng0896-399 PMID:14647275 (HJV) AUTHORS 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 TITLE Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. JOURNAL Nat Genet 36:77-82 (2004) DOI:10.1038/ng1274 PMID:12469120 (HAMP) AUTHORS Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C TITLE Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. JOURNAL Nat Genet 33:21-2 (2003) DOI:10.1038/ng1053 PMID:10802645 (TFR2) AUTHORS Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P TITLE The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. JOURNAL Nat Genet 25:14-5 (2000) DOI:10.1038/75534 PMID:11431687 (SLC40A1) AUTHORS 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 TITLE A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. JOURNAL Nat Genet 28:213-4 (2001) DOI:10.1038/90038 PMID:11389486 (FTH1) AUTHORS Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, Niitsu Y TITLE A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. JOURNAL Am J Hum Genet 69:191-7 (2001) DOI:10.1086/321261 |