Trichoepithelioma, Multiple Familial, 2

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CYLD, ERBB2, TP53, CDKN2A, PTGS2, COX2, MTCO2P12, ARID1A, APC, SMAD4, PIK3CA, TNF, AXL, CCND1, CDK4, ESR1, RUNX3, WIF1, PIK3CB, ADIPOQ, EGFR, MAPK1, PIK3CD, PIK3CG, EGF, MET, VEGFA, MIR31, AKT1, VDR

CYLD, ERBB2, TP53, CDKN2A, PTGS2, COX2, MTCO2P12, ARID1A, APC, SMAD4, PIK3CA, TNF, AXL, CCND1, CDK4, ESR1, RUNX3, WIF1, PIK3CB, ADIPOQ, EGFR, MAPK1, PIK3CD, PIK3CG, EGF, MET, VEGFA, MIR31, AKT1, VDR, MDM2, LEP, CCN1, WNT3A, IGFBP3, EPHB2, MGMT, AFAP1-AS1, JUN, IL6, CXCL8, ITK, IGFBP2, MYC, IGF1, EPC1, MTHFR, MCL1, FGFR2, FOXF1, SUB1, GLI1, GSN, GSTP1, MMP1, HGD, EPC2, HSP90B1, BCL2, BECN1, HOMER2, CDK6, C9, CDK9, MIR203A, SLC22A3, MIR192, MIR148A, RUNX1, CTNNB1, XIAP, PARP1, MIR145, APEX1, FAM215A, TNNT1, TLR4, SMUG1, ADAM12, RNF19A, SLC35A2, DKK1, POLDIP2, TIMP3, UGT1A, TIMP1, XRCC1, TFF1, AIMP2, NOC2L, BTG3, HMGA2, RPP14, GRAP2, COX5A, KLF4, MELK, ELMO1, GAB2, EIF1, CDK2AP2, CLDN2, PPIE, HSPB3, ALDH1A2, OLFM4, IL18RAP, MRPL28, AHSA1, TXNIP, ADAM9, TRIM31, AKAP12, ADAM10, RABGEF1, MIR15B, MIR21, MIR205, MIR200A, MIR191, MIR187, MIR17, MIR130A, MIR217, MIR106B, MIR106A, C6orf120, LCE1E, HNF1A-AS1, SEC14L3, MIR210, MIR23B, METTL7B, MIR505, H3P8, H3P9, COMMD3-BMI1, HPP1, MIR652, FABP12, MIR202, MIR27B, MIR378A, MIR375, MIR331, MIR133B, MIR7-2, MIR30A, JMJD1C, GDF7, LAMTOR2, CRNKL1, TERF2IP, TBX5, WWOX, GHRL, SF3B6, VTA1, TNFRSF12A, BNC2, PLCE1, INSIG2, RNF141, UHRF1, CD274, NXT1, RIN2, BARX1, GPBAR1, MAP1LC3B, IL23R, FOXR2, CTHRC1, OMA1, SLC52A3, MTDH, MUS81, AKR1B10, C12orf49, RNF128, EPS8L3, VSIR, SRR, GJC2, TERT, PTGS1, TAP2, CTSE, CYP17A1, DAD1, CD55, DMD, ATN1, DUSP6, E2F3, MEGF8, EIF4A2, EIF4E, EIF4G1, ELANE, EMX2, ENG, ERBB3, ERCC1, ERCC2, ERCC4, ESR2, FABP1, FABP6, FBLN1, FGFR3, FHIT, FKBP4, FKBP5, MTOR, FUT4, GHR, CX3CR1, CTSB, GSTT2, MAPK14, AGT, AHR, AMCN, ANXA1, APOB, AR, ATM, BMI1, BMP4, BRCA1, BRCA2, CA2, CA9, CA12, CAMK2G, CASP3, CASP7, CCKBR, CD80, CD34, CDH1, CDH13, CDKN2B, CDX2, COL1A1, COL11A2, COX8A, CPOX, CRK, GPX2, HLA-B, TAC1, PECAM1, PGR, PKP1, PPARG, PRKDC, MAPK8, KLK7, PTEN, PTPRC, PVT1, RAC1, RAP1A, RAP1GAP, RBM3, RFC3, RORC, RPS6KB1, RRAD, S100A9, SAFB, SERPINB3, SERPINB4, SLC10A2, SMO, SOX2, SOX4, SOX9, SPP1, STAT3, STK11, SERPINF1, SLC22A18, HLA-C, NELL1, HNF4A, HSPA4, HSPB1, HSPB2, HTC2, IFNG, IGF1R, IGF2, IL1A, IL1B, IL17A, IL18, IDO1, INHBA, LGALS9, LTA, EPCAM, MAGEA6, MCM5, MLH1, MMP3, MPG, MPO, MSH2, MSI1, MSR1, COX1, MUC6, MYO9B, H3P10

Drugs

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Description

Multiple familial trichoepithelioma (MFT) is an autosomal dominant disorder of skin appendage tumors characterized by the appearance of trichoepitheliomas.

See also MFT1 (601606), which is caused by mutations in the CYLD gene (605018) on chromosome 16q12-q13.

Mapping

In 3 families with multiple familial trichoepithelioma, 2 African American and 1 Caucasian, Harada et al. (1996) found linkage of the disorder to a 4-cM region between IFNA (147660) and D9S126 on chromosome 9p21; maximum combined lod = 3.31 at D9S171 at theta = 0.0.