View disease #00015

Official abbreviation polyposis
Name polyposis
OMIM ID -
Individuals reported having this disease 70
Phenotype entries for this disease 62
Associated with 14 genes APC, EPCAM, FBXO11, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, STK11
Associated tissues -
Disease features -
Remarks -


Individuals

70 entries on 1 page. Showing entries 1 - 70.
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AscendingIndividual ID     

Reference     

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Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

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 APC, MUTYH APC 1 1 Esther Sarasola
00022631 - M - - Last known age healthy/unknown disease: 55;InSiGHT LOVDv2 ID:1016685; - Multiple polyposis - polyposis MLH1 MLH1 1 1 InSiGHT group
00022634 - F - - Last known age healthy/unknown disease: 62;InSiGHT LOVDv2 ID:1016688; - Familial multiple polyposis - polyposis MLH1 MLH1 2 1 InSiGHT group
00028509 - F - - - - no family history of polyposis - polyposis APC APC 3 1 Michele Ciavarella
00028510 - M - - - - no family history of polyposis - polyposis APC APC 1 1 Michele Ciavarella
00028511 - M - - - - no family history of polyposis - polyposis APC APC 2 1 Michele Ciavarella
00028512 - M - - - - none - polyposis, neoplasia, colorectal, early onset APC APC 1 1 Michele Ciavarella
00028513 - M - - - - none - polyposis, neoplasia, colorectal, early onset APC APC 1 1 Michele Ciavarella
00028514 - M - - - - none - polyposis, cancer APC APC 1 1 Michele Ciavarella
00028515 - F - - - - no family history of polyposis - polyposis APC APC 2 1 Michele Ciavarella
00028516 - F - - - Yes - - polyposis APC APC 1 4 Michele Ciavarella
00028539 - - SPAIN CAUCASIAN - Yes - - polyposis APC, MUTYH APC 1 1 sira moreno
00028551 - F Netherlands - - - - - polyposis, neoplasia, colorectal APC, EPCAM, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, POLD1, POLE, STK11 MLH1 1 1 Carli Tops
00029947 - M Netherlands - among 170 APC negative Dutch FAP patients - - colorectal symptoms polyposis APC APC 1 1 Carli Tops
00032071 - F Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032072 - F Italy - - - - - polyposis APC APC 1 1 Maurizio Genuardi
00032073 - F Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032074 - F Italy - - Yes - colorectal symptoms polyposis APC APC 1 1 Maurizio Genuardi
00032075 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032076 - M Italy - parents were healthy and they were 80 years old Yes - colorectal symptoms polyposis APC APC 1 1 Maurizio Genuardi
00032077 - M Italy - - - - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032078 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032079 - F Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032080 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032081 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032082 - F Italy - - Yes - by chance polyposis APC APC 1 1 Maurizio Genuardi
00032083 - F Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032084 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032085 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032086 - F Italy - - Yes - - polyposis APC APC 1 1 Maurizio Genuardi
00032087 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032088 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032089 - F Italy - - Yes - call (screening) polyposis 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 APC APC 1 1 Maurizio Genuardi
00032092 - - Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032093 - F Italy - - - - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032094 - M Italy - - - - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032095 - F Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032096 - M Italy - - Yes - call (screening) polyposis APC APC 1 1 Maurizio Genuardi
00032097 - F Italy - - Yes - colorectal symptoms polyposis APC APC 1 1 Maurizio Genuardi
00032098 - M Italy - - No - - polyposis APC APC 1 1 Maurizio Genuardi
00032099 - F Italy - - - - - polyposis 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 APC APC 1 1 Makia Marafie
00032106 - F Kuwait Arab - Yes - colorectal symptoms polyposis APC APC 1 1 Makia Marafie
00032109 - F Switzerland - - Yes - colorectal symptoms polyposis APC APC 1 1 Karl Heinimann
00032110 - M Switzerland - - Yes - colorectal symptoms polyposis 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 APC APC 1 1 Maria Alejandra Ortiz
00032860 - F Germany - - Yes - call (screening) polyposis APC APC 1 1 Stefan Aretz
00032861 - M Germany - - Yes - colorectal symptoms polyposis APC APC 1 1 Stefan Aretz
00032862 - F Germany - - Yes - colorectal symptoms polyposis APC APC 1 1 Stefan Aretz
00032863 - F Germany - - Yes - call (screening) polyposis APC APC 1 1 Stefan Aretz
00032864 - M Germany - - Yes - - polyposis APC APC 1 1 Stefan Aretz
00032865 - M Germany - - Yes - colorectal symptoms polyposis APC APC 1 1 Stefan Aretz
00032866 - M Germany - - Yes - by chance polyposis APC APC 1 1 Stefan Aretz
00032867 - M Germany - - Yes - colorectal symptoms polyposis APC APC 1 1 Stefan Aretz
00032868 - F United States African American - Yes - call (screening) polyposis APC APC 1 1 Kathryn Mraz
00033549 Gemeinschaftspraxis für Humangenetik Dresden, submitted - - - - - - - polyposis APC APC 1 1 LOVD_Shared
00033633 - M - - - - - - polyposis APC APC 1 1 sira moreno
00033634 - F Spain - - Yes - - polyposis APC APC 1 1 sira moreno
00033636 - M (Spain) - - - - - polyposis APC APC 1 1 sira moreno
00033638 - F Germany german - Yes - - polyposis APC APC 1 1 Elke Holinski-Feder
00033646 - - India Asian - - - - CRC, polyposis APC APC 1 1 Rajiv Sarin
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