Fanconi anemia

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Fanconi Anemia
ICD-10 D61.0
ICD-9 284.0
OMIM 227650
DiseasesDB 4745
MedlinePlus 000334

Fanconi anemia Microchapters

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Epidemiology and Demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: Fanconi anaemia; Fanconi hypoplastic anemia; Fanconi panmyelopathy; Fanconi pancytopenia; FA

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Fanconi anemia from other Diseases

Epidemiology and Demographics

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | X Ray | CT | MRI | Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Related Chapters

References

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  • Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia - clinical and molecular aspects. Br.J.Haematol. 2004;126:176-191.
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  • Kutler DI, Auerbach AD. Fanconi anemia in Ashkenazi Jews. Fam.Cancer 2004;3:241-248.
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  • Zhang X, Li J, Sejas DP, Pang Q. Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells. Blood 2005
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  • de Winter JP, Leveille F, van Berkel CG et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am.J.Hum.Genet. 2000;67:1306-1308.
  • Pagano G, Youssoufian H. Fanconi anaemia proteins: major roles in cell protection against oxidative damage. Bioessays 2003;25:589-595.
  • Park SJ, Ciccone SL, Beck BD et al. Oxidative stress/damage induces multimerization and interaction of Fanconi anemia proteins. J.Biol.Chem. 2004;279:30053-30059.
  • Connor F, Bertwistle D, Mee PJ et al. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat.Genet. 1997;17:423-430.
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  • Garcia-Higuera I, Taniguchi T, Ganesan S et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol.Cell 2001;7:249-262.
  • Wang Y, Cortez D, Yazdi P et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000;14:927-939.
  • Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 1999;286:1162-1166.
  • Taniguchi T, Garcia-Higuera I, Xu B et al. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002;109:459-472.
  • Kruyt FA, Hoshino T, Liu JM et al. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P450 reductase. Blood 1998;92:3050-3056.
  • Cumming RC, Lightfoot J, Beard K et al. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat.Med. 2001;7:814-820.
  • Hadjur S, Ung K, Wadsworth L et al. Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase. Blood 2001;98:1003-1011.
  • Pang Q, Fagerlie S, Christianson TA et al. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol.Cell Biol. 2000;20:4724-4735.
  • Futaki M, Igarashi T, Watanabe S et al. The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. Carcinogenesis 2002;23:67-72.
  • de Winter JP, Waisfisz Q, Rooimans MA et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat.Genet. 1998;20:281-283.
  • Clarke AA, Philpott NJ, Gordon-Smith EC, Rutherford TR. The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA crosslinking. Br.J.Haematol. 1997;96:240-247.

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ca:Anèmia de Fanconi

de:Fanconi-Anämiehu:Fanconi anémia nl:Fanconi-anemie fi:Fanconin anemia


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