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.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
Reference     
Gender     
Geographic origin     
Ethnic origin     
Remarks     
Pedigree information available     
Family History     
Selection criteria for proband testing     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
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
Legend   « First ‹ Prev     1 2     Next › Last »

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center