KEGG DISEASE: Fanconi anemia

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 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
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06502  Nucleotide excision repair
   H00238  Fanconi anemia
  nt06506  Double-strand break repair
   H00238  Fanconi anemia
  nt06508  Interstrand crosslink repair
   H00238  Fanconi anemia

Pathway

hsa03460

Fanconi anemia pathway

hsa03440

Homologous recombination

hsa03420

Nucleotide excision repair

Network

nt06502 Nucleotide excision repair
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

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

Reference

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

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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Disease (21)   
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Gene (44)   
   KEGG ORTHOLOGY (22)   
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