KEGG   DISEASE: Fanconi anemia
Entry
H00238                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00238  Fanconi anemia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H00238  Fanconi anemia
Related
pathway
hsa03460  Fanconi anemia pathway
hsa03440  Homologous recombination
Network
nt06506  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]
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
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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