Disease #00314 (polyposis (polyposis))

Official abbreviation polyposis
Name polyposis
OMIM ID -
Inheritance -
Individuals reported having this disease 171
Phenotype entries for this disease 163
Associated with 1 gene APC
Associated tissues -
Disease features -
Remarks -
Date created 2014-01-27 14:59:09 +01:00 (CET)
Date last edited N/A


Individuals

171 entries on 2 pages. Showing entries 1 - 100.
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00011678 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis PXDNL PXDNL 1 1 Sukanya Horpaopan
00011681 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis FOCAD FOCAD 1 1 Sukanya Horpaopan
00012550 - - among 170 APC negative Dutch FAP patients M - Netherlands - - - ? - polyposis >15 polyps; no colon cancer ; no esophago-gastro-duodenoscopy; uncertain duodenal phenotype APC APC 1 1 Carli Tops
00014674 - - - F - Italy - - - yes (pedigree) - polyposis additional tooth; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 15y; (duodenal polyps (?HP:0004783)) APC APC 1 1 Maurizio Genuardi
00014675 - - - F - Italy - - - ? - polyposis ? APC APC 1 1 Maurizio Genuardi
00014676 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 29y, rectum; colectomy 10y; (duodenal polyps (?HP:0004783)) APC APC 1 1 Maurizio Genuardi
00014677 - - - F - Italy - - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 32y APC APC 1 1 Maurizio Genuardi
00014678 - - - M - Italy - - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00014679 - - parents were healthy and they were 80 years old M - Italy - - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 52y; colectomy 52y APC APC 1 1 Maurizio Genuardi
00014680 - - - M - Italy - - - ? - polyposis colorectal phenotype classical, ? nr polyps; colectomy 39y; esophago-gastro-duodenoscopy age 39y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00014681 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00014682 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00014683 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical 184 polyps; colectomy 19y; esophago-gastro-duodenoscopy age 20y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00014684 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; esophago-gastro-duodenoscopy age 38y; duodenal phenotype APC APC 1 1 Maurizio Genuardi
00014685 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 23y APC APC 1 1 Maurizio Genuardi
00014686 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available APC APC 1 1 Maurizio Genuardi
00014687 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 18y; duodenal phenotype APC APC 1 1 Maurizio Genuardi
00014688 - - - M - Italy - - - yes (pedigree) - polyposis no additional phenotype data available APC APC 1 1 Maurizio Genuardi
00014689 - - - F - Italy - - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype atypical, ? nr polyps; colon cancer 56y, rectum-sigma APC APC 1 1 Maurizio Genuardi
00014690 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 36y APC APC 1 1 Maurizio Genuardi
00014691 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available APC APC 1 1 Maurizio Genuardi
00014692 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 15y APC APC 1 1 Maurizio Genuardi
00014693 - - - M - Italy - - - yes (pedigree) - polyposis - APC APC 1 1 Maurizio Genuardi
00014694 - - - F - Italy - - - yes (pedigree) - polyposis ; colorectal phenotype attenuated, ? nr polyps; colectomy 64y APC APC 1 1 Maurizio Genuardi
00014695 - - - - - Italy - - - yes (pedigree) - polyposis ; colorectal phenotype attenuated 5 polyps APC APC 1 1 Maurizio Genuardi
00014696 - - - F - Italy - - - ? - polyposis colorectal phenotype attenuated 5 polyps APC APC 1 1 Maurizio Genuardi
00014697 - - - M - Italy - - - ? - polyposis colorectal phenotype classical 60 polyps; colectomy 19y APC APC 1 1 Maurizio Genuardi
00014698 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated 70 polyps; colectomy 32y APC APC 1 1 Maurizio Genuardi
00014699 - - - M - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 14y APC APC 1 1 Maurizio Genuardi
00014700 - - - F - Italy - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00014701 - - - M - Italy - - - no (pedigree) - polyposis no additional phenotype data available APC APC 1 1 Maurizio Genuardi
00014702 - - - F - Italy - - - ? - polyposis colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00014708 - - sister had colon cancer at age 39y, father had colon cancer at age 42y, sister had partial colectomy at age 35y because of polyposis coli extra canine in 4 other members F - Kuwait Arab - - yes (pedigree) - polyposis 1 extra canine on right side; colorectal phenotype severe, hundreds polyps colon; colon cancer 40.5y, sigmoid colon; colectomy 41y APC APC 1 1 Makia Marafie
00014709 - - - F - Kuwait Arab - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype severe, hundreds polyps colon; colectomy 20y APC APC 1 1 Makia Marafie
00014712 - - - F - Switzerland - - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 38y, Rectum APC APC 1 1 Karl Heinimann
00014713 - - - M - Switzerland - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 40y, Rectum APC APC 1 1 Karl Heinimann
00015460 - - Mutation detected in gen APC heterozygous c 1393dupG, p.A465fs, Exon 10, Novel mutation, symptomatic. Test code 6087 in the Baylor college of medicina F - (Venezuela) - - - no (pedigree) - polyposis supernumerary teeth, lipomas; colorectal phenotype classical, 100 polyps colon, small intestine and rectum; colon cancer adenoma tubular, jejunum proximal, sigma, rectum; polypectomy 24y; no duodenal phenotyp APC APC 1 1 Maria Alejandra Ortiz
00015463 - - - F - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 48y; duodenal phenotypenormal APC - - 1 Stefan Aretz
00015464 - - - M - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated, 51-100 polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 55y; duodenal phenotypenormal APC - - 1 Stefan Aretz
00015465 - - - F - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype atypical, 100-500 polyps entire colon; no colon cancer ; IPAA ; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp APC - - 1 Stefan Aretz
00015466 - - - F - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated, 21-50 polyps entire colon; no colon cancer ; colectomy 67y IRA; esophago-gastro-duodenoscopy age 72y; uncertain duodenal phenotype APC - - 1 Stefan Aretz
00015467 - - - M - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype attenuated 51-100 polyps APC - - 1 Stefan Aretz
00015468 - - - M - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical numerous polps APC - - 1 Stefan Aretz
00015469 - - - M - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, 500-1000 polyps entire colon; colectomy 31y IPAA APC - - 1 Stefan Aretz
00015470 - - - M - Germany - - - yes (pedigree) - polyposis additional phenotype data available; colorectal phenotype classical, 100-500 polyps entire colon; no colon cancer ; colectomy 24y IPAA; esophago-gastro-duodenoscopy age 23y; duodenal phenotypenormal APC - - 1 Stefan Aretz
00015471 - - - F - United States African American - - yes (pedigree) - polyposis no additional phenotype data available; colorectal phenotype attenuated, polyps 54+ resected polyps; path: 29 adenomatous; no colon cancer ; esophago-gastro-duodenoscopy; (duodenal polyps (?HP:0004783)) APC APC 1 1 Kathryn Mraz
00016101 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis MCM3AP MCM3AP 1 1 Sukanya Horpaopan
00016102 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis - KIF26B KIF26B 1 1 Sukanya Horpaopan
00016130 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis CNTN6 CNTN6 1 1 Sukanya Horpaopan
00016131 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis CNTN6 CNTN6 1 1 Sukanya Horpaopan
00016132 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis colorectal adenomatous polyposis CNTN6 CNTN6 1 1 Sukanya Horpaopan
00016134 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis CNTN6 CNTN6 1 1 Sukanya Horpaopan
00016137 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis TESK2 TESK2 1 1 Sukanya Horpaopan
00016138 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F - Germany - - 1 - - polyposis colorectal adenomatous polyposis FOCAD FOCAD 1 1 Sukanya Horpaopan
00016139 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M - Germany - - 1 - - polyposis - HEXDC HEXDC 1 1 Sukanya Horpaopan
00016276 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis FOCAD FOCAD 1 1 Sukanya Horpaopan
00016277 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis HEXDC HEXDC 1 1 Sukanya Horpaopan
00016278 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis HEXDC HEXDC 1 1 Sukanya Horpaopan
00016279 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis HSPH1 HSPH1 1 1 Sukanya Horpaopan
00016280 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016281 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016282 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016283 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016284 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016285 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016286 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016287 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis KIF26B KIF26B 1 1 Sukanya Horpaopan
00016289 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis MCM3AP MCM3AP 1 1 Sukanya Horpaopan
00016290 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis MCM3AP MCM3AP 1 1 Sukanya Horpaopan
00016291 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis PXDNL PXDNL 1 1 Sukanya Horpaopan
00016292 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me M ? Germany - - 1 - - polyposis colorectal adenomatous polyposis PXDNL PXDNL 1 1 Sukanya Horpaopan
00016293 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis PXDNL PXDNL 1 1 Sukanya Horpaopan
00016295 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis TESK2 TESK2 1 1 Sukanya Horpaopan
00016297 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis ULK4 ULK4 1 1 Sukanya Horpaopan
00016298 - - detected possibly causative variant but have not yet sufficient evidence to publish - please contact me F ? Germany - - 1 - - polyposis colorectal adenomatous polyposis ULK4 ULK4 1 1 Sukanya Horpaopan
00081320 - - - - - Germany - - - - - polyposis - APC APC 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00108139 - - - M - - - - - - - polyposis polyposis; colorectal phenotype attenuated APC APC 1 1 Sira Moreno
00108140 - - - F - Spain - - - yes - polyposis polyposis; cause diagnosis colorectal symptoms; 27 polyps APC APC 1 1 Sira Moreno
00108142 - - - M - (Spain) - - - - - polyposis polyposis; cause diagnosis colorectal symptoms; 25 polyps; ; 57y-colon cancer;; colorectal phenotype attenuated APC APC 1 1 Sira Moreno
00108144 - - - F - Germany german - - yes - polyposis polyposis; cause diagnosis colorectal symptoms; 100 polyps; adenoma complete colon; uncertain; colorectal phenotype attenuated APC APC 1 1 Elke Holinski-Feder
00164660 - PubMed: Mur 2018 - M - - White - - - - polyposis CRC patient with classic adenomatous polyposis (mucosa completely covered with polyps) diagnosed at age 46. APC, MSH3, MUTYH, NUDT1 NUDT1 1 1 Pilar Mur Molina
00183615 - - no affected family members, multiple polyposis F - Italy - - - pedigree - polyposis - APC, MUTYH APC 2 1 Aline Martayan
00187026 - InSiGHT Variant Interpretation Committee April 2016 72 y Polyposis left Colon - - - - - - - - polyposis - MSH2 MSH2 1 1 Elke Holinski-Feder
00187625 - - - - - - - - - - - polyposis - MSH6 MSH6 1 1 Ans M.W. van den Ouweland
00188635 - - no family history M - Spain white - - - - ?, polyposis - MUTYH MUTYH 1 1 Esther Sarasola
00195159 - - Last known age healthy/unknown disease: 55;InSiGHT LOVDv2 ID:1016685;; Multiple polyposis M - - - - - - - polyposis multiple polyposis (11, mostly TVAs). Last known age 55y MLH1 MLH1 1 1 INSiGHT group
00195162 - - Last known age healthy/unknown disease: 62;InSiGHT LOVDv2 ID:1016688;; Familial multiple polyposis F - - - - - - - polyposis multiple polyposis (about 10); MLH1+ (on adenoma) MSH2+ (on adenoma) MSH6+ (on adenoma) Last known age: 62y MLH1 MLH1 2 1 INSiGHT group
00200940 - - Family: her son 1 adenoma at 40yrs; her mother sigmoidcarc; mother had many sibs (>10) , and several of them had cancer at a relative young age. None of them were tested for the variant. F - Netherlands - - - - - ?, polyposis colorectal neoplasia; 3xCRC in situ, >50 small polyps (serrated, adenomatous and hyperplastic). 1 CRC tested MSI H, with MLH1 methylation. Others not tested.; Multiple polyps (>50 some sessile, some adenoma,some hyperplastic, some serrated ). APC, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, POLD1, STK11 MLH1 1 1 Carli Tops
00201867 - - - M - - - - - no pedigree - cancer, colon, polyposis - MUTYH MUTYH 2 1 Esther Sarasola
00202572 PMID14633673_2 PubMed: Lipton 2003 - - - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - polyposis - MUTYH MUTYH 1 1 Carli Tops
00202712 - PubMed: Küry 2007 1/1023 excluded as sporadic CRC case because of familial MAP phenotype - - France white - - - - polyposis - MUTYH MUTYH 2 1 Astrid Out
00203246 - Redeker (unpublished); AMC, Amsterdam, NL - M - Netherlands - - - - - polyposis colorectal phenotype attennuated MUTYH MUTYH 1 1 Bert Redeker
00203247 - Redeker (unpublished); AMC, Amsterdam, NL - M - Morocco Morocco - - - - polyposis - MUTYH MUTYH 2 1 Bert Redeker
00203248 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - polyposis colorectal phenotype attennuated MUTYH MUTYH 3 1 Mette Gaustadnes
00203250 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Denmark - - - - - polyposis - MUTYH MUTYH 2 1 Mette Gaustadnes
00203255 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - - Turkey - - - - - polyposis - MUTYH MUTYH 2 1 Mette Gaustadnes
00203272 - Molecular Medicine, AUH, Skejby, Aarhus, DK 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - Denmark - - - - - polyposis - MUTYH MUTYH 1 6 Mette Gaustadnes
00203273 - Molecular Medicine, AUH, Skejby, Aarhus, DK 13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230 - - Denmark - - - - - polyposis - MUTYH MUTYH 1 13 Mette Gaustadnes
00203275 - Molecular Medicine, AUH, Skejby, Aarhus, DK 4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - polyposis - MUTYH MUTYH 2 4 Mette Gaustadnes
00203276 - Molecular Medicine, AUH, Skejby, Aarhus, DK 1/115 polyposis and/or CRC patients homozygous c.1014G>C and heterozygous c.1544C>T, minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230 - - Denmark - - - - - polyposis - MUTYH MUTYH 3 1 Mette Gaustadnes
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