Tylosis With Esophageal Cancer; Toc

Description

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

Genes related to Tylosis With Esophageal Cancer; Toc

RHBDF2

Clinical Features

Top most frequent phenotypes and symptoms related to Tylosis With Esophageal Cancer; Toc

Pica
Neoplasm
Hepatomegaly
Edema
Dysphagia
Hernia
Hyperkeratosis
Gastroesophageal reflux
Weight loss
Carcinoma

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Tylosis With Esophageal Cancer; Toc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RHBDF2. By Institute for Human Genetics University Clinic Freiburg in Germany. RHBDF2 Specificity 100 % Genes 100 %
CHOP Comprehensive Hereditary Cancer Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...) View the complete list with 86 more genes Panel GTR000530264 complete gene list BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH, FAH, SDHB, HAX1, MEN1, SDHA, FANCC, GBA, BLM, GJB2, HRAS, PTPN11, RMRP, CBL, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, CDH1, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, RAD51D, SERPINA1, MPL, NF1, ERCC2, ERCC3, DKC1, DOCK8, SMARCE1, SMARCA4, SMARCB1, SH2D1A, PRSS1, KIT, FANCA, FANCG, BAP1, CDKN1B, ERCC4, POLD1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, ITK, G6PC3, COL7A1, DDX41, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HMBS, ARID5B, POLH, CEBPE, MTAP, DIS3L2, DDB2 Specificity 1 % Genes 100 %
Tylosis with esophageal cancer (sequence analysis of RHBDF2 gene). By CGC Genetics in Portugal. RHBDF2 Specificity 100 % Genes 100 %
Hereditary Cancer Syndromes - panels. By MGZ Medical Genetics Center in Germany. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...) View the complete list with 80 more genes Panel GTR000552439 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, PMS1, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, POLD1, GREM1, EGFR, POLE, AXIN2, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, NTHL1, XPC, DIS3L2, DDB2, CEP57, RNF43 Specificity 1 % Genes 100 %
Tylosis with esophageal cancer. By Centogene AG - the Rare Disease Company in Germany. RHBDF2 Specificity 100 % Genes 100 %
Tylosis with esophageal cancer. By Centogene AG - the Rare Disease Company in Germany. RHBDF2 Specificity 100 % Genes 100 %
Disorders associated with malignancy Panel. By CeGaT GmbH in Germany. MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...) View the complete list with 25 more genes Panel GTR000522365 complete gene list MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1, ERCC2, ERCC3, DKC1, TERC, TERT, ERCC6, CTC1, WRAP53, NHP2, NOP10, ERCC4, PIK3CA, AXIN2, AKT1, ERCC8, FERMT1, PDGFRB, ERCC5, XPA, CYLD, GTF2H5, RHBDF2, XPC, POLH, DDB2 Specificity 3 % Genes 100 %
Ichthyoses and related disorders of cornification Panel. By CeGaT GmbH in Germany. ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...) View the complete list with 45 more genes Panel GTR000522373 complete gene list ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC, JUP, VPS33B, TGM5, KRT14, CDSN, CLDN1, SNAP29, ENPP1, ALOX12B, KRT9, SLC27A4, KRT16, KRT10, NIPAL4, SPINK5, KRT6A, KRT1, TRPV3, SLURP1, CERS3, LOR, STS, ALOXE3, PNPLA1, KRT2, CYP4F22, AP1S1, DSG1, AAGAB, KRT6C, KRT17, POMP, GJB4, AQP5, CARD14, CSTA, FLG, GTF2H5, KRT6B, LIPN, ST14, RHBDF2, WNT10A, SERPINB7, ATP2C1 Specificity 2 % Genes 100 %
Cancer Predisposition. By Asper Biogene Asper Biogene LLC in Estonia. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...) View the complete list with 69 more genes Panel GTR000520069 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, HRAS, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, CYLD, RHBDF2, XPC, DIS3L2, DDB2 Specificity 2 % Genes 100 %
RHBDF2. By Fulgent Genetics Fulgent Genetics in United States. RHBDF2 Specificity 100 % Genes 100 %
Comprehensive Hereditary Cancer Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...) View the complete list with 126 more genes Panel GTR000552807 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1, FH, SDHB, ANKRD26, TMEM127, MEN1, SDHA, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, TINF2, SOS2, RIT1, MAP2K2, TSC2, CBL, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, BARD1, PMS1, RAD51D, NF1, ERCC2, ERCC3, LZTR1, FANCB, DKC1, SPRED1, NSUN2, RASA2, RRAS, EZH2, MITF, TERC, TERT, SMARCA4, SMARCB1, KIT, KITLG, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, BAP1, CDKN1B, ERCC4, SRP72, POLD1, GREM1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, AIP, POT1, SAMD9L, DDX41, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HOXB13, NTHL1, XPC, POLH, DIS3L2, DDB2, MLH3, ERCC1, CEP57, CD70, EXO1, PPM1D, REST Specificity 1 % Genes 100 %
Hereditary Gastrointestinal Cancer Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1 , (...) View the complete list with 19 more genes Panel GTR000552736 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHC, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, ATM, PALB2, CDH1, STK11, CDKN2A, SDHD, BMPR1A, SMAD4, NF1, SMARCB1, KIT, POLD1, GREM1, PDGFRA, POLE, AXIN2, BUB1B, RHBDF2, NTHL1 Specificity 3 % Genes 100 %
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYMDROME. By Laboratorio de Genetica Clinica SL in Spain. RHBDF2 Specificity 100 % Genes 100 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes. By Reference Laboratory Genetics in Spain. BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...) View the complete list with 70 more genes Panel GTR000559668 complete gene list BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, FANCC, BLM, TSC2, TSC1, NSD1, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, SBDS, CEBPA, PRF1, PRKAR1A, CDC73, RAD51C, RAD51D, NF1, ERCC2, ERCC3, FANCB, EZH2, SMARCB1, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, BAP1, ERCC4, EGFR, EXT2, EXT1, AIP, WRN, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, XPC, DIS3L2, DDB2, CEP57 Specificity 2 % Genes 100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...) View the complete list with 123 more genes Panel GTR000560391 complete gene list BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, KIF1B, SDHC, FH, FAH, SDHB, NDUFA13, RNASEL, TMEM127, MEN1, SDHA, FANCC, BLM, TINF2, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, RTEL1, WAS, NTRK1, NF1, CYP21A2, ERCC2, ERCC3, FANCB, DKC1, ATR, ANTXR2, TGFBR1, GLI3, MITF, LYST, TERT, ERCC6, SMARCA4, SMARCB1, GLMN, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, CDKN1B, ERCC4, PIK3CA, POLD1, PDGFRA, POLE, AXIN2, AKT1, EXT2, EXT1, LIG4, AIP, KLHDC8B, ESCO2, RSPO1, CD96, WRN, DICER1, ERCC5, XPA, BUB1B, GALNT12, CYLD, KDR, RHBDF2, ANTXR1, XPC, PDE11A, TMC6, TMC8, UROD, POLH, MTAP, DIS3L2, DDB2, MLH3, PALLD, PTCH2, XRCC3, MSR1, ASCC1, MSMB, EPHB2, POU6F2, EHBP1, RAD51B Specificity 1 % Genes 100 %

Alternate names

Tylosis With Esophageal Cancer; Toc Is also known as palmoplantar keratoderma with esophageal cancer, keratosis palmaris et plantaris with esophageal cancer;bennion-patterson syndrome; howell-evans syndrome; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; tylosis-oesophageal carcinoma syndrome.

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