Fanconi Anemia (Fanconi's Anemia)

Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)

Also Known As:

Networked: 1214 relevant articles (20 outcomes, 62 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Leukemia
2.	Pancytopenia
3.	Hypersensitivity (Allergy)
4.	Chromosome Breakage
5.	Hepatocellular Carcinoma (Hepatoma)

Experts

1.	D'Andrea, Alan D: 44 articles (04/2015 - 01/2002)
2.	Joenje, Hans: 28 articles (01/2015 - 07/2002)
3.	Alter, Blanche P: 24 articles (10/2015 - 07/2004)
4.	Auerbach, Arleen D: 23 articles (08/2015 - 02/2003)
5.	Schindler, Detlev: 19 articles (07/2015 - 04/2002)
6.	de Winter, Johan P: 19 articles (05/2015 - 10/2003)
7.	Taniguchi, Toshiyasu: 17 articles (10/2015 - 02/2002)
8.	Hanenberg, Helmut: 17 articles (04/2015 - 02/2003)
9.	Wagner, John E: 16 articles (10/2015 - 01/2004)
10.	Takata, Minoru: 15 articles (06/2014 - 08/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fanconi Anemia:

1.	DNA (Deoxyribonucleic Acid)IBA 03/01/2003 - "That alphaSpIISigma* is essential for this re-localization is demonstrated by the finding that in cells from patients with Fanconi anemia complementation group A (FA-A), which have decreased ability to repair DNA interstrand cross-links and decreased levels of alphaSpIISigma*, there is a significant reduction in formation of damage-induced XPF as well as alphaSpIISigma* nuclear foci, even though levels of XPF are normal in these cells. " 02/01/2012 - "Recent studies indicate that the Fanconi anemia pathway also controls Rev1-mediated translesion DNA synthesis (TLS). " 05/01/2010 - "The aim of this study was to evaluate whether measuring repair kinetics of radiation-induced DNA double-strand breaks (DSBs) can distinguish Fanconi anemia from other BMF patients. " 09/04/2009 - "In this study, we report that the purified wild-type FANCI (Fanconi anemia complementation group I) protein directly binds to a variety of DNA substrates. " 12/01/1997 - "Conventional subtraction library techniques or DNA-transfection studies are standard techniques applied for identification and isolation of genes relevant in monogenetic diseases like Fanconi anemia (FA). "
2.	Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA 07/01/1995 - "In the Fanconi's anemia trial, 6 of 7 patients showed some improvement when treated with GM-CSF. " 12/01/2005 - "Overexpression of NPM suppresses stress-induced apoptosis in the granulocyte-macrophage colony-stimulating factor (GM-CSF)-dependent myeloid cell line MO7e and the lymphoblast HSC536 cells derived from a Fanconi anemia (FA) patient. " 01/01/1994 - "We studied the toxicity and efficacy of daily subcutaneous administration of recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) in patients with Fanconi anemia and pancytopenia. " 07/01/1995 - "Two clinical trials were undertaken to evaluate the effect of human recombinant granulocyte-macrophage colony stimulating factor (GM-CSF) in pancytopenic pediatric patients with aplastic anemia and Fanconi's anemia. " 07/01/1995 - "GM-CSF clinical trials: pediatric aplastic anemia and Fanconi's anemia."
3.	Alkylating AgentsIBA 12/01/1992 - "Fanconi anemia cells in culture are highly sensitive to oxidative stress and alkylating agents; Fanconi anemia may provide a model for a genetic disorder potentially predisposing to environmental insults." 10/01/1975 - "Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia." 08/01/2010 - "Reduced doses of alkylating agents and radiotherapy are used in patients with Fanconi anemia. " 12/01/2007 - "Cells from Fanconi anemia (FA) patients are hypersensitive to alkylating agents and radiation traditionally used as conditioning regimens for marrow cell transplantation, and patients experience serious toxicities. " 10/01/2013 - "Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. "
4.	erythritol anhydride (butanedione)IBA 03/01/2009 - "The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. " 05/01/1983 - "Fanconi's anemia: a cytogenetic study on lymphocyte and bone marrow cultures utilizing 1,2:3,4-diepoxybutane." 01/01/2015 - "Diagnosis of fanconi anemia by diepoxybutane analysis." 12/01/2011 - "Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia." 10/28/2011 - "The biotransformation and oxidative stress may contribute to 1,2:3,4-diepoxybutane (DEB)-induced toxicity to human lymphocytes of Fanconi Anemia (FA) patients. "
5.	Fanconi Anemia Complementation Group D2 ProteinIBA 12/01/2013 - "The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children." 12/15/2002 - "Recent studies have elucidated a biochemical pathway for Fanconi anemia that culminates in the monoubiquitination of the FANCD2 protein. " 10/16/2014 - "The Fanconi anemia (FA) pathway, of which the FANCD2 protein is a key component, plays crucial roles in the maintenance of hematopoietic stem cells and suppression of carcinogenesis. " 05/08/2014 - "Incisions depend critically on the Fanconi anemia pathway, whose activation involves ubiquitylation of the FANCD2 protein. " 01/01/2013 - "Together, these findings suggest that FANCD2 protein and the Fanconi anemia pathway are essential to protect human lymphoblastoid cells against FA toxicity. "
6.	TransferasesIBA 01/01/2003 - "The cellular control enzyme polyADP ribosyl transferase is eliminated in cultured Fanconi anemia fibroblasts at confluency." 01/01/1989 - "The basal and the mutagen-induced levels of ADP-ribosyl transferase activity are not modified in Fanconi's anemia cells." 03/01/2012 - "The studies used mouse EMT6 cells (both parental and transfected with genes for O(6)-alkylguanine-DNA transferase [AGT]), repair-deficient human Fanconi Anemia C and Chinese hamster VC8 (BRCA2(-/-)) cells and corresponding control cells, and EMT6 tumors in mice assayed using cell survival and tumor growth assays. " 01/01/1989 - "The activity of ADP-ribosyl transferase, an enzyme thought to be involved in several basic functions of the chromatin and in DNA repair, has been investigated in normal and Fanconi's anemia (FA) cells. " 07/01/1993 - "The molecular spectra of mutations photoinduced (405 nm) by 4,5',8-trimethylpsoralen monoadducts (MA), at an endogenous locus, hypoxanthine-guanine phosphoribosyl-transferase (HPRT) in normal and in a Fanconi anemia (FA) lymphoblast cell line, complementation group D, are presented. "
7.	Bone Marrow failure syndromesIBA 07/01/2015 - "Overall, our data indicate that SRT3025 or related compounds may be beneficial in Fanconi anemia and other bone marrow failure syndromes. " 12/01/2014 - "Fanconi anemia (FA) is the most common of the inherited bone marrow failure syndromes with an incidence of approximately 1/100,000 to 1/200,000 live births. " 08/07/2014 - "These contradictory clinical manifestations are reminiscent of human inherited bone marrow failure syndromes such as Fanconi anemia (FA), caused by defective DNA repair. " 01/01/2011 - "Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS) with a leukemic propensity. " 09/01/2006 - "Fanconi anemia (FA) is the most frequently reported of the rare inherited bone marrow failure syndromes. "
8.	Reactive Oxygen Species (Oxygen Radicals)IBA 08/15/2001 - "Several lines of evidence point to an abnormality in the response of Fanconi anemia cells to reactive oxygen species. " 07/14/2000 - "Fanconi's anemia (FA) is a clinically and genetically heterogeneous disease which has been hypothesized to be defective in the detoxification of reactive oxygen species. " 02/25/2000 - "Fanconi's anemia (FA) is a very rare genetically heterogeneous disease which has been hypothesized to be defective in the detoxification of reactive oxygen species. " 09/01/1992 - "The release of oxygen radicals by blood and bone marrow leukocytes of patients with Fanconi anemia (FA) has been studied. " 09/01/1992 - "Release of active oxygen radicals by leukocytes of Fanconi anemia patients."
9.	Proliferating Cell Nuclear Antigen (PCNA)IBA 06/01/2011 - "We will also summarize the recent findings revealing the crosstalk between two major human DNA damage response pathways (the TLS and the Fanconi anemia pathways), and the ATR and ATM-independent regulation of PCNA ubiquitination. " 10/18/2010 - "RAD18-mediated ubiquitination of PCNA activates the Fanconi anemia DNA repair network." 10/16/2009 - "Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif." 10/01/1995 - "Proliferating cell nuclear antigen (PCNA) labeling index (LI) of the adenoma arising in patients with Fanconi's anemia was significantly greater than the PCNA-LI of adenoma in the other children (mean 4.1% versus 0.9% of nuclei), approaching the lower end of the spectrum for reported hepatocellular carcinoma cases. " 06/01/2011 - "The deubiquitinating enzyme USP1 regulates DNA repair and the Fanconi anemia pathway through its association with its WD40 binding partner, UAF1, and through its deubiquitination of two critical DNA repair proteins, FANCD2-Ub and PCNA-Ub. "
10.	HormonesIBA 11/01/2008 - "Improved growth velocity during thyroid hormone therapy in children with Fanconi anemia and borderline thyroid function." 02/01/2015 - "Previously, reduced levels of anti-Müllerian hormone (AMH), a circulating marker of ovarian reserve, were found in females with Fanconi anemia (FA). " 05/01/2014 - "Anti-Müllerian hormone deficiency in females with Fanconi anemia." 07/01/2008 - "Correlation of thyroid and growth hormones to chromosomal instability in Egyptian Fanconi anemia patients."

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 03/01/2007 - "Bone marrow transplantation (BMT) is the only known cure for the hematologic manifestations of Fanconi anemia (FA). " 02/01/1995 - "Bone marrow transplantation for patients with Fanconi anemia: a study of 24 cases from a single institution." 06/11/2015 - "In this issue of Blood, MacMillan et al give the results of sequential modifications of the conditioning regimen to improve the outcome of unrelated bone marrow transplantation in Fanconi anemia (FA). " 07/01/2014 - "Immune reconstitution in patients with Fanconi anemia after allogeneic bone marrow transplantation." 01/01/2011 - "Lymphoid malignancies are rare in patients with Fanconi anemia (FA), particularly after bone marrow transplantation. "
2.	Transplants (Transplant) 07/01/2014 - "Our results support the utility of post-transplant monitoring of a peripheral blood lymphocyte subset for improved follow-up of patients with Fanconi anemia undergoing BMT." 04/01/2012 - "We conclude that the combination of CY, Flu, and ATG in the doses used in this study is well tolerated, and that the proclaimed positive effect of adding Flu to the conditioning regimens of patients with Fanconi anemia undergoing SCT is most pronounced in recipients of HLA-matched related transplants. " 09/01/2005 - "Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies." 01/01/2004 - "We report on the effectiveness of molecular studies regarding Fanconi anemia (FA) for a better selection of bone marrow graft donors and for post-transplant follow up. " 01/01/2004 - "Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients."
3.	Transplantation (Transplant Recipients) 03/01/2008 - "Gluckman and her colleagues performed - successfully - the first familial CB transplantation and cured a 5 years old child suffering from Fanconi's anemia. " 09/01/2008 - "Previous studies showed that Fanconi anemia (FA) murine stem cells have defective reconstitution after bone marrow (BM) transplantation. " 01/01/1991 - "This paper reviews our recent laboratory and clinical studies demonstrating the efficacious use of human umbilical cord blood for HLA-matched allogeneic sibling stem/progenitor cell transplantation in cases of Fanconi's anemia. " 07/01/2015 - "Fanconi Anemia: Overview of the Disease and the Role of Hematopoietic Transplantation." 11/01/2014 - "Successful hematopoietic reconstitution by unrelated donor cord blood transplantation in children with Fanconi anemia: report of 3 cases."
4.	Hematopoietic Stem Cell Transplantation 02/01/2004 - "The only proven cure for Fanconi anemia (FA)-associated bone marrow failure is successful allogeneic hematopoietic stem cell transplantation (HSCT). " 11/01/2015 - "The current curative treatment of Fanconi anemia is hematopoietic stem cell transplantation; this treatment has a higher rate of successful outcome when donors are compatible siblings. " 05/01/2015 - "Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only curative therapy for the severe hematopoietic complications associated with Fanconi anemia (FA). " 07/01/2014 - "Reports of oral malignant transformation in Fanconi Anemia after hematopoietic stem cell transplantation (HSCT) are increasing probably because of longer survival rates. " 04/01/2014 - "HLA-haploidentical T cell-depleted allogeneic hematopoietic stem cell transplantation in children with Fanconi anemia."
5.	Cell Transplantation 10/01/2015 - "Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure." 06/11/2015 - "Historically, alternative donor hematopoietic cell transplantation (HCT) for Fanconi anemia (FA) patients resulted in excessive morbidity and mortality. " 06/11/2015 - "Alternative donor hematopoietic cell transplantation for Fanconi anemia." 05/01/2015 - "Fanconi anemia (FA) is an inherited DNA repair disorder associated with short stature and bone marrow failure, usually requiring hematopoietic cell transplantation (HCT). " 05/01/2015 - "Bone mineral density in children with fanconi anemia after hematopoietic cell transplantation."