Disease #00015

Official abbreviation polyposis
Name polyposis
OMIM ID -
Individuals reported having this disease 110
Phenotype entries for this disease 100
Associated with 5 genes FBXO11, MLH3, MSH3, MUTYH, POLD1
Associated tissues -
Disease features -
Remarks -


Individuals

110 entries on 2 pages. Showing entries 1 - 100.
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Reference     

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Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

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Owner     
00002041 InSiGHT Variant Interpretation Committee April 2016 - - - 72 y Polyposis left Colon - - - polyposis - MSH2 MSH2 1 1 Elke Holinski-Feder
00002683 - - - - InSiGHT LOVDv2 ID:1013056; This data has been transferred from InSiGHT LOVDv2 database. - - - polyposis - MSH6 MSH6 1 1 Ans van den Ouweland
00003666 - - India Asian - - - - CRC, polyposis - APC APC 1 1 Rajiv Sarin
00003667 - F India Asian - - - - CRC, FAP-1, polyposis - APC APC 1 1 Rajiv Sarin
00003668 - F India Asian - - history of polyposis, CRC and extracolonic manifestations in multiple members of family over three generations - CRC, FAP-1, polyposis - APC APC 1 1 Rajiv Sarin
00003671 - - India Asian - - - - CRC, polyposis - APC APC 1 1 Rajiv Sarin
00003777 - M Spain Caucasian - - None Attenuated polyposis polyposis - APC, MUTYH APC, MUTYH 2 1 Esther Sarasola
00003916 - M - - - - - - polyposis Attenuated polyposis APC, MUTYH APC 1 1 Esther Sarasola
00022631 - M - - Last known age healthy/unknown disease: 55;InSiGHT LOVDv2 ID:1016685; - Multiple polyposis - polyposis multiple polyposis (11, mostly TVAs). Last known age 55y MLH1 MLH1 1 1 InSiGHT group
00022634 - F - - Last known age healthy/unknown disease: 62;InSiGHT LOVDv2 ID:1016688; - Familial multiple polyposis - polyposis multiple polyposis (about 10); MLH1+ (on adenoma) MSH2+ (on adenoma) MSH6+ (on adenoma) Last known age: 62y MLH1 MLH1 2 1 InSiGHT group
00028509 - F - - - - no family history of polyposis - polyposis individual with >50 adenomatous polyps APC APC 3 1 Michele Ciavarella
00028510 - M - - - - no family history of polyposis - polyposis Individual with >20 adenomatous polypos APC APC 1 1 Michele Ciavarella
00028511 - M - - - - no family history of polyposis - polyposis individual with >100 polypos APC APC 2 1 Michele Ciavarella
00028512 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >20 polyps, Proctocolectomy; 2 synchronous adenocarcinomas APC APC 1 1 Michele Ciavarella
00028513 - M - - - - none - polyposis, neoplasia, colorectal, early onset individual with >50 polyps, Proctocolectomy; 2 synchronous adenocarcinomas APC APC 1 1 Michele Ciavarella
00028514 - M - - - - none - polyposis, cancer individual with >50 polyps, Urothelial Cancer APC APC 1 1 Michele Ciavarella
00028515 - F - - - - no family history of polyposis - polyposis individual with >150 adenomatous polyps APC APC 2 1 Michele Ciavarella
00028516 - F - - - Yes - - polyposis sporadic attenuated adenomatous polyposis APC APC 1 4 Michele Ciavarella
00028539 - - SPAIN CAUCASIAN - Yes - - polyposis - APC, MUTYH APC 1 1 sira moreno
00028551 - F Netherlands - - - 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. - polyposis, neoplasia, colorectal 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
00029947 - M Netherlands - among 170 APC negative Dutch FAP patients - - colorectal symptoms polyposis >15 polyps; no colon cancer ; no esophago-gastro-duodenoscopy; uncertain duodenal phenotype APC APC 1 1 Carli Tops
00032071 - F Italy - - Yes - call (screening) polyposis additional tooth; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 15y; (duodenal polyps (?HP:0004783)) APC APC 1 1 Maurizio Genuardi
00032072 - F Italy - - - - - polyposis ? APC APC 1 1 Maurizio Genuardi
00032073 - F Italy - - Yes - call (screening) 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
00032074 - F Italy - - Yes - colorectal symptoms polyposis no additional phenotype data available; colorectal phenotype classical, ? nr polyps; colon cancer 32y APC APC 1 1 Maurizio Genuardi
00032075 - M Italy - - Yes - call (screening) polyposis no additional phenotype data available; colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00032076 - M Italy - parents were healthy and they were 80 years old Yes - colorectal symptoms polyposis no additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; colon cancer 52y; colectomy 52y APC APC 1 1 Maurizio Genuardi
00032077 - M Italy - - - - call (screening) polyposis colorectal phenotype classical, ? nr polyps; colectomy 39y; esophago-gastro-duodenoscopy age 39y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00032078 - M Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00032079 - F Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype attenuated, ? nr polyps; esophago-gastro-duodenoscopy age 40y; no duodenal phenotyp APC APC 1 1 Maurizio Genuardi
00032080 - M Italy - - Yes - call (screening) 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
00032081 - M Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; esophago-gastro-duodenoscopy age 38y; duodenal phenotype APC APC 1 1 Maurizio Genuardi
00032082 - F Italy - - Yes - by chance polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 23y APC APC 1 1 Maurizio Genuardi
00032083 - F Italy - - Yes - call (screening) polyposis additional phenotype data available APC APC 1 1 Maurizio Genuardi
00032084 - M Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 18y; duodenal phenotype APC APC 1 1 Maurizio Genuardi
00032085 - M Italy - - Yes - call (screening) polyposis no additional phenotype data available APC APC 1 1 Maurizio Genuardi
00032086 - F Italy - - Yes - - polyposis no additional phenotype data available; colorectal phenotype atypical, ? nr polyps; colon cancer 56y, rectum-sigma APC APC 1 1 Maurizio Genuardi
00032087 - M Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 36y APC APC 1 1 Maurizio Genuardi
00032088 - M Italy - - Yes - call (screening) polyposis additional phenotype data available APC APC 1 1 Maurizio Genuardi
00032089 - F Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 15y APC APC 1 1 Maurizio Genuardi
00032090 - M Italy - - Yes - call (screening) polyposis - APC APC 1 1 Maurizio Genuardi
00032091 - F Italy - - Yes - call (screening) polyposis ; colorectal phenotype attenuated, ? nr polyps; colectomy 64y APC APC 1 1 Maurizio Genuardi
00032092 - - Italy - - Yes - call (screening) polyposis ; colorectal phenotype attenuated 5 polyps APC APC 1 1 Maurizio Genuardi
00032093 - F Italy - - - - call (screening) polyposis colorectal phenotype attenuated 5 polyps APC APC 1 1 Maurizio Genuardi
00032094 - M Italy - - - - call (screening) polyposis colorectal phenotype classical 60 polyps; colectomy 19y APC APC 1 1 Maurizio Genuardi
00032095 - F Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype attenuated 70 polyps; colectomy 32y APC APC 1 1 Maurizio Genuardi
00032096 - M Italy - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps; colectomy 14y APC APC 1 1 Maurizio Genuardi
00032097 - F Italy - - Yes - colorectal symptoms polyposis additional phenotype data available; colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00032098 - M Italy - - No - - polyposis no additional phenotype data available APC APC 1 1 Maurizio Genuardi
00032099 - F Italy - - - - - polyposis colorectal phenotype classical, ? nr polyps APC APC 1 1 Maurizio Genuardi
00032105 - F Kuwait Arab 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 Yes - colorectal symptoms 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
00032106 - F Kuwait Arab - Yes - colorectal symptoms polyposis no additional phenotype data available; colorectal phenotype severe, hundreds polyps colon; colectomy 20y APC APC 1 1 Makia Marafie
00032109 - F Switzerland - - Yes - colorectal symptoms polyposis no additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 38y, Rectum APC APC 1 1 Karl Heinimann
00032110 - M Switzerland - - Yes - colorectal symptoms polyposis additional phenotype data available; colorectal phenotype classical >100 polyps; colon cancer 40y, Rectum APC APC 1 1 Karl Heinimann
00032857 - F (Venezuela) - Mutation detected in gen APC heterozygous c 1393dupG, p.A465fs, Exon 10, Novel mutation, symptomatic. Test code 6087 in the Baylor college of medicina No - colorectal symptoms 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
00032860 - F Germany - - Yes - call (screening) polyposis additional phenotype data available; colorectal phenotype attenuated, multiple polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 48y; duodenal phenotypenormal APC APC 1 1 Stefan Aretz
00032861 - M Germany - - Yes - colorectal symptoms polyposis additional phenotype data available; colorectal phenotype attenuated, 51-100 polyps entire colon; no colon cancer ; esophago-gastro-duodenoscopy age 55y; duodenal phenotypenormal APC APC 1 1 Stefan Aretz
00032862 - F Germany - - Yes - colorectal symptoms 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 APC 1 1 Stefan Aretz
00032863 - F Germany - - Yes - call (screening) 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 APC 1 1 Stefan Aretz
00032864 - M Germany - - Yes - - polyposis additional phenotype data available; colorectal phenotype attenuated 51-100 polyps APC APC 1 1 Stefan Aretz
00032865 - M Germany - - Yes - colorectal symptoms polyposis additional phenotype data available; colorectal phenotype classical numerous polps APC APC 1 1 Stefan Aretz
00032866 - M Germany - - Yes - by chance polyposis additional phenotype data available; colorectal phenotype classical, 500-1000 polyps entire colon; colectomy 31y IPAA APC APC 1 1 Stefan Aretz
00032867 - M Germany - - Yes - colorectal symptoms 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 APC 1 1 Stefan Aretz
00032868 - F United States African American - Yes - call (screening) 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
00033549 Gemeinschaftspraxis für Humangenetik Dresden, submitted - - - - - - - polyposis - APC APC 1 1 LOVD_Shared
00033633 - M - - - - - - polyposis polyposis; colorectal phenotype attenuated APC APC 1 1 sira moreno
00033634 - F Spain - - Yes - - polyposis polyposis; cause diagnosis colorectal symptoms; 27 polyps APC APC 1 1 sira moreno
00033636 - M (Spain) - - - - - polyposis polyposis; cause diagnosis colorectal symptoms; 25 polyps; ; 57y-colon cancer;; colorectal phenotype attenuated APC APC 1 1 sira moreno
00033638 - 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
00033646 - - India Asian - - - - CRC, polyposis - APC APC 1 1 Rajiv Sarin
00034124 - M - - - No - - cancer, colon, polyposis - MUTYH MUTYH 2 1 Esther Sarasola
00034833 Lipton 2003 - (Denmark);(Finland);(Switzerland);(United Kingdom (Great Britain)) - - - - - polyposis - MUTYH MUTYH 1 1 Carli Tops
00034973 Küry 2007 - France white 1/1023 excluded as sporadic CRC case because of familial MAP phenotype - - - polyposis - MUTYH MUTYH 2 1 Astrid Out
00035507 Redeker (unpublished); AMC, Amsterdam, NL M Netherlands - - - - - polyposis colorectal phenotype attennuated MUTYH MUTYH 1 1 Bert Redeker
00035508 Redeker (unpublished); AMC, Amsterdam, NL M Morocco Morocco - - - - polyposis - MUTYH MUTYH 2 1 Bert Redeker
00035509 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - - - - - polyposis colorectal phenotype attennuated MUTYH MUTYH 3 1 Mette Gaustadnes
00035511 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - - - - - polyposis - MUTYH MUTYH 2 1 Mette Gaustadnes
00035516 Molecular Medicine, AUH, Skejby, Aarhus, DK - Turkey - - - - - polyposis - MUTYH MUTYH 2 1 Mette Gaustadnes
00035533 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - - polyposis - MUTYH MUTYH 1 6 Mette Gaustadnes
00035534 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 13/115 polyposis and/or CRC patients heterozygous c.64G>A; minor allele frequency 15/230 - - - polyposis - MUTYH MUTYH 1 13 Mette Gaustadnes
00035536 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 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 - - - polyposis - MUTYH MUTYH 2 4 Mette Gaustadnes
00035537 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 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 - - - polyposis - MUTYH MUTYH 3 1 Mette Gaustadnes
00035538 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 5/115 polyposis and/or CRC patients homozygous for c.1014G>C; minor allele frequency: 44/230 - - - polyposis - MUTYH MUTYH 2 5 Mette Gaustadnes
00035539 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - 24/115 polyposis and/or CRC patients heterozygous for c.1014G>C; minor allele frequency: 44/230 - - - polyposis - MUTYH MUTYH 1 24 Mette Gaustadnes
00035542 Medical Genetics, UZ Gent, Gent, BE M Belgium - tested 91 patients with clinical diagnosis (A)FAP without detectable APC mutation, by sequencing of entire MUTYH gene - - - polyposis CC criteria B+; total colectomy; diagnosis: colorectal symptoms; colorectal phenotype classical MUTYH MUTYH 2 1 Kathleen Claes
00035549 Clinical Genetics, Karolinska University Hospital, Stockholm, SE M (Sweden) - - - - - polyposis - MUTYH MUTYH 1 1 Kristina Lagerstedt Robinson
00035554 Clinical Genetics, Karolinska University Hospital, Stockholm, SE F - - - - - - polyposis - MUTYH MUTYH 1 1 Kristina Lagerstedt Robinson
00035556 Clinical Genetics, Karolinska University Hospital, Stockholm, SE F Sweden white - - - - polyposis colorectal phenotype attennuated MUTYH MUTYH 1 1 Kristina Lagerstedt Robinson
00035559 Clinical Genetics, Karolinska University Hospital, Stockholm, SE M Sweden - - - - - polyposis - MUTYH MUTYH 1 1 Kristina Lagerstedt Robinson
00035560 Clinical Genetics, Karolinska University Hospital, Stockholm, SE F Sweden - - - - - polyposis - MUTYH MUTYH 2 1 Kristina Lagerstedt Robinson
00035680 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035681 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035682 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035683 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035684 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 2 Stefan Aretz
00035685 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035686 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 3 Stefan Aretz
00035687 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035688 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
00035689 Aretz 2006 - (Germany) - allele frequency among 329 polyposis patients - - - polyposis - MUTYH MUTYH 1 1 Stefan Aretz
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