Cowden Syndrome 6

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

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

—

Interested in hearing about new therapies?

A number sign (#) is used with this entry because of evidence that a form of Cowden syndrome is caused by heterozygous mutation in the AKT1 gene (164730) on chromosome 14q32.3.

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) mutation or KLLN (612105) promoter hypermethylation, 2 individuals (2.2%) carried 1 of 2 germline missense mutations in the AKT1 gene. The patients were 38 and 47 years of age.