Cowden Syndrome 5

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PTEN, SDHB, PIK3CA, KLLN, AKT1, SDHD, SEC23B, SDHC, FGFR2, EGFR, TNF, NOD2, TEP1, IL10, BMPR1A, TP53, IL23R, OSR1, BRCA1, MTOR, ATG16L1, SDS, CEACAM6, SARDH, CRP, HLA-DQA1, TGM2, IFNG, SMAD4, KLK3

PTEN, SDHB, PIK3CA, KLLN, AKT1, SDHD, SEC23B, SDHC, FGFR2, EGFR, TNF, NOD2, TEP1, IL10, BMPR1A, TP53, IL23R, OSR1, BRCA1, MTOR, ATG16L1, SDS, CEACAM6, SARDH, CRP, HLA-DQA1, TGM2, IFNG, SMAD4, KLK3, IL17A, BRCA2, ACAD8, SORD, IL6, PLAG1, PIK3CG, NPEPPS, TGFBI, TESC, PIK3CD, PIK3CB, IL1B, PSAT1, NR3C1, GTF2H1, GTF2H2, GTF2H3, GTF2H4, HIF1A, IBD5, TGFB1, MAPK1, HSP90B1, ADA, TLR2, TLR4, STK11, BDNF, SST, MIR21, SLC12A3, GTF2H5, IL15, TPMT, TSC1, LTA, LCN2, TNFSF15, VWF, IL15RA, PROS1, ERCC2, ERCC3, HEPH, DGCR2, DNAJC6, GDF15, GRAP2, CLOCK, TP63, ARHGEF2, HMGA2, TIMP1, TNFRSF1A, TNNI3, TSC2, UBC, VEGFA, VIM, AIMP2, GPR68, SLC16A3, BFSP2, RASAL1, RABEPK, NR1I2, SQSTM1, SGCE, USP8, SLC16A4, ABCB6, ACAT1, LANCL1, SEMA4D, LYPD1, TAGAP, SLCO6A1, SIRPA, SPRED1, TMPRSS6, USF3, IL27, TCERG1L, ARMH1, GSTK1, ASPG, MIR19A, MIR206, MIR29B1, MIR29B2, DEFA1A3, POU5F1P3, POU5F1P4, DEFB4B, MIR1290, LINC01672, OCLN, RN7SL263P, LOC110806263, IL17F, LMLN, KAT8, IL23A, AHSA1, TXNIP, CCR9, EBNA1BP2, KIF3A, FSTL1, TBC1D9, RNF19A, PTPN22, HAVCR1, IL19, MPC1, TMPRSS13, IL17D, SLC38A2, IL26, MYDGF, SUCNR1, SLURP1, HAMP, GORASP1, P2RY12, WNK1, CYREN, POLDIP2, SCD, TG, PTK2B, ACE, DEFB4A, DMBT1, DSC2, DSG2, TOR1A, EGF, ERCC5, ERCC6, EYA1, EYA2, FAP, CYBB, FGF2, FKBP5, FN1, GABPA, GAPDH, GCH1, GH1, GHSR, GLS, FFAR2, GPX1, CYP11A1, CCN2, TFF3, CASP3, ALB, ALDH1A1, APC, AR, ARSD, ATF3, BAX, BCL2, BGLAP, DDR1, CAMP, CAT, CSH2, CAV1, SERPINH1, CCNH, CD86, CD40, CDH2, CDK7, ERCC8, CRK, MAPK14, CSH1, HFE, HLA-DPB1, HLA-DQA2, CCL2, PMS2, POMC, POU5F1, PPIA, MAPK8, PROX1, PSMD7, RAP1A, RELA, RET, ACHE, CCL11, HLA-DQB1, CCL20, SDC1, SLC2A1, SLC6A4, SLC11A1, STAT3, STAT5A, STAT5B, SYT1, ADAM17, TRBV20OR9-2, ABCB1, PGF, TNFRSF11B, NFE2L2, HLA-DRB4, HSPA9, IFNA1, IFNA13, IL4, IL9, JAK2, KCNN4, RPSA, LBR, EPCAM, SMAD2, SMAD7, MAOA, MAT1A, MBL2, MAP3K5, MMP9, MSMB, MST1, MUC4, MUTYH, MYCN, H3P28

Drugs

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A number sign (#) is used with this entry because of evidence that Cowden syndrome-5 (CWS5) is caused by heterozygous mutation in the PIK3CA gene (171834) on chromosome 3q26.

For a general phenotypic description and a discussion of genetic heterogeneity of Cowden syndrome, see CWS1 (158350).

Molecular Genetics

Orloff et al. (2013) found that of 91 individuals with Cowden syndrome without germline PTEN (601728), SDHB (185470), or SDHD (602690) mutations, or KLLN (612105) promoter hypermethylation, 8 individuals (8.8%) carried 1 of 7 germline PIK3CA mutations. The mutations found in 3 male and 5 female patients consisted of 5 missense mutations (171834.0015-171834.0019), a complex missense/indel mutation (171834.0020), and a nonsense mutation (171834.0021). The patients ranged in age from 27 to 71 years of age.