| H00238 | |
| H number | H00238 |
| Name | Fanconi anemia |
| Description | 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). |
| Category | Hematologic disease |
| Network | nt06506(H00238) Double-strand break repair nt06508 Interstrand crosslink repair |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:18995829 AUTHORS Cohn MA, D'Andrea AD TITLE Chromatin recruitment of DNA repair proteins: lessons from the fanconi anemia and double-strand break repair pathways. JOURNAL Mol Cell 32:306-12 (2008) DOI:10.1016/j.molcel.2008.10.009 PMID:19101576 AUTHORS Rego MA, Kolling FW 4th, Howlett NG TITLE The Fanconi anemia protein interaction network: casting a wide net. JOURNAL Mutat Res 668:27-41 (2009) DOI:10.1016/j.mrfmmm.2008.11.018 PMID:18047734 (FANCA - FANCN) AUTHORS Jacquemont C, Taniguchi T TITLE The Fanconi anemia pathway and ubiquitin. JOURNAL BMC Biochem 8 Suppl 1:S10 (2007) DOI:10.1186/1471-2091-8-S1-S10 PMID:20400963 (FANCO) AUTHORS 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 TITLE Mutation of the RAD51C gene in a Fanconi anemia-like disorder. JOURNAL Nat Genet 42:406-9 (2010) DOI:10.1038/ng.570 PMID:21240275 (FANCP) AUTHORS Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A TITLE Mutations of the SLX4 gene in Fanconi anemia. JOURNAL Nat Genet 43:142-6 (2011) DOI:10.1038/ng.750 PMID:23623386 (FANCQ) AUTHORS 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 TITLE Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. JOURNAL Am J Hum Genet 92:800-6 (2013) DOI:10.1016/j.ajhg.2013.04.002 PMID:26681308 (FANCR) AUTHORS 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 TITLE A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. JOURNAL Nat Commun 6:8829 (2015) DOI:10.1038/ncomms9829 PMID:29133208 (FANCS) AUTHORS Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL TITLE Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. JOURNAL Eur J Med Genet 61:130-133 (2018) DOI:10.1016/j.ejmg.2017.11.003 PMID:26046368 (FANCT) AUTHORS 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 TITLE Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. JOURNAL Am J Hum Genet 96:1001-7 (2015) DOI:10.1016/j.ajhg.2015.04.022 PMID:22232082 (FANCU) AUTHORS Shamseldin HE, Elfaki M, Alkuraya FS TITLE Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. JOURNAL J Med Genet 49:184-6 (2012) DOI:10.1136/jmedgenet-2011-100585 PMID:27500492 (FANCV) AUTHORS 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 TITLE Biallelic inactivation of REV7 is associated with Fanconi anemia. JOURNAL J Clin Invest 126:3580-4 (2016) DOI:10.1172/JCI88010 PMID:28691929 (FANCW) AUTHORS Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D TITLE Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. JOURNAL J Clin Invest 127:3013-3027 (2017) DOI:10.1172/JCI92069 |