Fanconi Anemia, Complementation Group F

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

FANCC, FANCG, BRIP1, FANCM, FANCA, FANCD2, SLX4, FANCL, RAD51C, RAD51, BRCA1, ERCC4, UBE2T, XRCC2, MAD2L2, BRCA2, FANCI, FANCF, FANCB, FANCE, PALB2, TNF, ERCC1, RFWD3, MX1, USP1, ZNF276, FAH, MUL1, POLG, CHEK1, GAS2, FAN1, PRKN, CBLL2, ATM, TP53, BLM, IFNG, FUT1, CD34, ATR, PARP1, NBN, RAD18, RUNX1, COL11A2, FAAP20, BACH1, ALDH2, SNU13, RPS19, PCNA, DLK1, H2AX, FAAP24, DCLRE1A, MRE11, NLRP2, MLH1, HPRT1, SPTAN1, RAD50, MSH2, WDR48, UCN, HES1, IL6, E2F1, PTEN, GYPA, HNF4A, HSP90AA1, COX4I1, IFNA1, IFNA13, CSF3, GH1, DCLRE1B, OCRL, NPM1, IL3, IGF1, IL1B, IL2, TP53BP1, HPGDS, TXN, SYF2, ME1, RAD51D, KAT5, TGFB1, ABL1, RB1, PRTN3, MAPK1, PPARG, SCT, XRCC3, POLD1, PMS2, RNF8, MSC, PAK1, OPRM1, PRDX6, SMARCA4, SOD2, STAT1, TERC, KITLG, MMP9, ERVW-4, UHRF1, GATA3, CASP3, OPN4, CDK1, CDC42, FAAP100, ATAD5, CTBP1, CTSB, DDX11, TIMM8A, NLN, ERCC2, MECOM, TTK, MKS1, REV1, MSH6, GGH, LOH19CR1, XRCC5, ZNF236, LEPQTL1, CPNE3, CXCR4, AIMP2, USP11, MTDH, BRAP, BMF, FAM120B, ARHGAP24, TRAF2, CUL4B, DONSON, PPM1D, USP48, CDK10, RUVBL1, FSD1L, TNFSF10, BCL2L12, ZBTB32, XRCC4, RBM45, EZR, DEL11P13, FECD3, XRCC6P5, MIR34A, TYRO3, MIR181C, UBE2B, MIR146A, GSTK1, RRDX, VCAM1, WEE1, SLCO6A1, WNT5A, CENPX, WRN, RNF168, WT1, BABAM1, XPA, ROMO1, XPC, XPO1, NDUFAF6, TLR7, NEIL1, CT55, USP16, EDIL3, SLC12A9, UIMC1, ABCC4, IKZF1, RETN, RACK1, PAG1, ATF7IP, IL17RB, AHSA1, PLK2, GINS2, RUVBL2, PPARGC1A, FSTL1, CHEK2, MCM10, DKK1, BRMS1, RNF19A, NEIL3, PARPBP, SETBP1, PTPRU, DNM1L, PHGDH, EFCAB6, MBD2, FSD1, EXO1, XPR1, ELOVL6, MAPKAPK2, GPR132, TLR8, GRAP2, WNK1, MRPL36, POLDIP2, PCBP4, ZBTB7A, TBPL1, GORASP1, PKNOX2, VPS9D1, UBL5, HDAC9, TELO2, SALL4, SH2B3, TIGAR, RECQL4, AAVS1, TPO, FXN, FOXF1, FHIT, FEN1, EZH2, ERCC5, ERBB2, EPO, EPHB2, ENO1, EIF4E, EGR1, DNA2, NQO1, DHFR, DAXX, FN1, FRA16D, CYP2B6, MTOR, GYPE, GYPB, GSTT1, GSTP1, GSTM1, GSK3B, GPX4, GOLGA4, GLRX, GFAP, GABRG1, GABRB1, XRCC6, FUS, FRZB, CYP11A1, CYP2A6, HIC1, CCNB1, RUNX3, CAV1, CAT, CASP8, BIK, BCS1L, BCR, BCL6, BAX, ATRX, AR, ALDH1A1, AFP, ADH5, ACP1, CCK, CCNE1, CTNNB1, CD33, CTNS, CSF2, MAPK14, CRK, CREBBP, ABCC2, CCR7, CLCN5, CFL1, CDKN1A, CDH1, CD68, CD48, CD44, CD38, HBG2, HIF1A, TP73, RNF4, RELA, REG1A, OPN1LW, RBBP8, RAD52, RAD51B, RAC1, PTCH1, PSMA7, PSEN1, EIF2AK2, MAPK8, PRKDC, PRKAA2, PMS1, REV3L, ATXN1, PHF1, CCL3, TOP1, TH, TERF2, ZEB1, TBX1, TAP2, SYT1, STAT5B, STAT5A, SPTBN1, SPP1, SOAT1, SLC1A3, SFRP1, SELP, PIN1, SLC25A3, HLA-DRB1, MEF2C, MCM6, MCM4, SMAD4, LRP2, LPL, STMN1, KIT, JAK2, ITGB1, INSR, INHBA, IL10, IL3RA, ICAM1, HSPA4, MECP2, MEN1, PFKFB3, MGMT, PDGFRB, CHMP1A, PAX6, NOTCH1, NME1, NCAM1, MYH4, MYH2, MTHFR, MSH3, MRC1, MMP7, MMP2, KMT2A, CIITA, PSPH

Drugs

Afatinib, Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Gefitinib ( Iressa )

Afatinib, Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Gefitinib ( Iressa ), Lentiviral vector carrying the Fanconi anaemia-A (FANCA) gene, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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A number sign (#) is used with this entry because Fanconi anemia of complementation group F is caused by homozygous or compound heterozygous mutation in the FANCF gene (613897) on chromosome 11p14.

Description

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).

For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.

Molecular Genetics

De Winter et al. (2000) identified mutations in the FANCF gene in 4 cell lines of Fanconi anemia complementation group F.