| H00238 | |
| H番号 | H00238 |
| 名称 | ファンコニ貧血 |
| 概要 | Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway). |
| カテゴリ | 血液疾患 |
| ネットワーク | nt06506(H00238) Double-strand break repair nt06508 Interstrand crosslink repair |
| 病因遺伝子 | (FANCA) FANCA [HSA:2175] [KO:K10888] (FANCB) FANCB [HSA:2187] [KO:K10889] (FANCC) FANCC [HSA:2176] [KO:K10890] (FANCD1) BRCA2 [HSA:675] [KO:K08775] (FANCD2) FANCD2 [HSA:2177] [KO:K10891] (FANCE) FANCE [HSA:2178] [KO:K10892] (FANCF) FANCF [HSA:2188] [KO:K10893] (FANCG) FANCG [HSA:2189] [KO:K10894] (FANCI) FANCI [HSA:55215] [KO:K10895] (FANCJ) BRIP1 [HSA:83990] [KO:K15362] (FANCL) FANCL [HSA:55120] [KO:K10606] (FANCM) FANCM [HSA:57697] [KO:K10896] (FANCN) PALB2 [HSA:79728] [KO:K10897] (FANCO) RAD51C [HSA:5889] [KO:K10870] (FANCP) SLX4 [HSA:84464] [KO:K10484] (FANCQ) ERCC4 [HSA:2072] [KO:K10848] (FANCR) RAD51 [HSA:5888] [KO:K04482] (FANCS) BRCA1 [HSA:672] [KO:K10605] (FANCT) UBE2T [HSA:29089] [KO:K13960] (FANCU) XRCC2 [HSA:7516] [KO:K10879] (FANCV) MAD2L2 [HSA:10459] [KO:K13728] (FANCW) RFWD3 [HSA:55159] [KO:K15691] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | シクロホスファミド水和物 [DR:D00287] |
| コメント | - |
| リンク | ICD-11: 3A70.0 ICD-10: D61.0 OMIM: 227650 300514 227645 605724 227646 600901 603467 614082 609053 609054 614083 610832 613390 613951 615272 617244 617883 616435 617247 617243 617784 |
| 文献 | PMID:18995829 著者 Cohn MA, D'Andrea AD タイトル Chromatin recruitment of DNA repair proteins: lessons from the fanconi anemia and double-strand break repair pathways. 雑誌 Mol Cell 32:306-12 (2008) DOI:10.1016/j.molcel.2008.10.009 PMID:19101576 著者 Rego MA, Kolling FW 4th, Howlett NG タイトル The Fanconi anemia protein interaction network: casting a wide net. 雑誌 Mutat Res 668:27-41 (2009) DOI:10.1016/j.mrfmmm.2008.11.018 PMID:18047734 (FANCA - FANCN) 著者 Jacquemont C, Taniguchi T タイトル The Fanconi anemia pathway and ubiquitin. 雑誌 BMC Biochem 8 Suppl 1:S10 (2007) DOI:10.1186/1471-2091-8-S1-S10 PMID:20400963 (FANCO) 著者 Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, Neveling K, Endt D, Kesterton I, Autore F, Fraternali F, Freund M, Hartmann L, Grimwade D, Roberts RG, Schaal H, Mohammed S, Rahman N, Schindler D, Mathew CG タイトル Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 雑誌 Nat Genet 42:406-9 (2010) DOI:10.1038/ng.570 PMID:21240275 (FANCP) 著者 Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A タイトル Mutations of the SLX4 gene in Fanconi anemia. 雑誌 Nat Genet 43:142-6 (2011) DOI:10.1038/ng.750 PMID:23623386 (FANCQ) 著者 Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillon J, Ramirez MJ, Pujol R, Casado JA, Banos R, Rio P, Knies K, Zuniga S, Benitez J, Bueren JA, Jaspers NG, Scharer OD, de Winter JP, Schindler D, Surralles J タイトル Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 雑誌 Am J Hum Genet 92:800-6 (2013) DOI:10.1016/j.ajhg.2013.04.002 PMID:26681308 (FANCR) 著者 Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC タイトル A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. 雑誌 Nat Commun 6:8829 (2015) DOI:10.1038/ncomms9829 PMID:29133208 (FANCS) 著者 Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL タイトル Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 雑誌 Eur J Med Genet 61:130-133 (2018) DOI:10.1016/j.ejmg.2017.11.003 PMID:26046368 (FANCT) 著者 Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M タイトル Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. 雑誌 Am J Hum Genet 96:1001-7 (2015) DOI:10.1016/j.ajhg.2015.04.022 PMID:22232082 (FANCU) 著者 Shamseldin HE, Elfaki M, Alkuraya FS タイトル Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. 雑誌 J Med Genet 49:184-6 (2012) DOI:10.1136/jmedgenet-2011-100585 PMID:27500492 (FANCV) 著者 Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socie G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J タイトル Biallelic inactivation of REV7 is associated with Fanconi anemia. 雑誌 J Clin Invest 126:3580-4 (2016) DOI:10.1172/JCI88010 PMID:28691929 (FANCW) 著者 Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D タイトル Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. 雑誌 J Clin Invest 127:3013-3027 (2017) DOI:10.1172/JCI92069 |