Disease #01515 (JPS (polyposis syndrome, juvenile (JPS)), OMIM:174900)

Official abbreviation JPS
Name polyposis syndrome, juvenile (JPS)
OMIM ID 174900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 621
Phenotype entries for this disease 615
Associated with 2 genes BMPR1A, SMAD4
Associated tissues -
Disease features -
Remarks -


Individuals

621 entries on 7 pages. Showing entries 1 - 100.
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00037151 - - - - - Germany - - 0 - - JPS Juvenile Polyposis SMAD4 SMAD4 1 1 Andreas Laner
00037153 - - - - - Germany - - 0 - - JPS suspected juvenile polyposis SMAD4 SMAD4 1 1 Andreas Laner
00049794 - PubMed: Howe 1998, Journal: Howe 1998 5-generation family, 13 affected, 4 unaffected at-risk carriers - no United States white, Iowa - 0 - - JPS hamartomatous polyps, gastrointestinal cancer SMAD4 SMAD4 1 13 Johan den Dunnen
00049801 - PubMed: Howe 1998, Journal: Howe 1998 family - no United States white, Mississipi - 0 - - JPS - SMAD4 SMAD4 1 13 Johan den Dunnen
00049802 - PubMed: Howe 1998, Journal: Howe 1998 family - no Finland white - 0 - - JPS - SMAD4 SMAD4 1 13 Johan den Dunnen
00049803 - PubMed: Howe 1998, Journal: Howe 1998 sporadic patient - - United States - - 0 - - JPS colonic/gastric JP; father gastrointestinal symptoms SMAD4 SMAD4 1 13 Johan den Dunnen
00049804 - PubMed: Howe 1998, Journal: Howe 1998 2-generation family, 1 affected, unaffected parents/4 sibs - - United States - - 0 - - JPS 6y 30-40 colonic juvenile polyps SMAD4 SMAD4 1 13 Johan den Dunnen
00049805 - PubMed: Shikata 2005, Journal: Shikata 2005 - F ? Japan - - 0 - - JPS - SMAD4 SMAD4 1 1 Johan den Dunnen
00049924 - PubMed: Houlston 1998, Journal: Houlston 1998 - - - United Kingdom (Great Britain) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049925 103984370-FJP-15/12136244-JUV-15 PubMed: Friedl 1999, PubMed: Friedl 2002 - F - Germany - - 0 - - JPS 12y-50 juvenile polyps; 28y-polyposis of the stomach SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049926 - PubMed: Roth 1999 - - - (Finland) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049927 - PubMed: Roth 1999 - - - Finland - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049928 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - F - - - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049929 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - M - - - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049930 - PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - M - - - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049931 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - M - Korea - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049932 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - F - Korea - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049933 - PubMed: Kim 2000, {DOI:Kim 2000:10.1002/(sici)1097-0215(20000515)86:2<529::aid-jic14>3.0.co;2-o} - F - Korea - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049934 - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - - - - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049935 - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - - - - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049937 12136244-JUV-29 PubMed: Friedl 2002 adopted - - Germany - - 0 - - JPS no extracolonic features, gastric polyposis not examined SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049938 12136244-JUV-36 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS gastric polyposis,giant gastric folds; 40y-gastrectomy SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049939 12136244-JUV-37 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 36y-gastric polyposis; 40y-gastrectomy; mother, sister, maternal aunt gastric polyposis and partial or total gastrectomy at 47y, 47y, 42y resp. SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049940 JP2 PubMed: Sayed 2002, Journal: Sayed 2002 - - - United States - - 0 - - JPS - SMAD4 SMAD4 1 1 Johan den Dunnen
00049941 JP3 PubMed: Sayed 2002 - - - United States - - 0 - - JPS - SMAD4 SMAD4 1 1 Johan den Dunnen
00049942 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049943 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049944 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049950 - Journal: Howe 2004, Journal: Howe 2004 - - - (United States) - - 0 - - JPS FJP SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049951 - Journal: Howe 2004, Journal: Howe 2004 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049952 - PubMed: Lamireau 2005, Journal: Lamireau 2005 - F - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049953 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049954 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049955 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049956 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049957 - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049958 - PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049959 - PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049960 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049961 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049962 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049963 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049964 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049965 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049966 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JP-HHT SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049967 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049968 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049969 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049970 - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049972 17873119-Pat51 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049973 17873119-Pat44 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049974 17873119-Pat71 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049975 17873119-Pat78 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049976 17873119-Pat57 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049977 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049978 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049979 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049980 - PubMed: van Hattem 2008, Journal: van Hattem 2007 - - - (Netherlands) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049981 - PubMed: Pintiliciuc 2008, Journal: Pintiliciuc 2008 - F - (France) - - 0 - - JPS GJP SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049982 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049983 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) - - 0 - - JPS JPS SMAD4 SMAD4 1 1 Global Variome, with Curator vacancy
00049995 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00049996 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS FJP SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00049998 - PubMed: Houlston 1998, Journal: Houlston 1998 - - - - - - 0 - - JPS JPHT SMAD4 SMAD4 1 1 SIB - Livia Famiglietti
00050005 JP91-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050007 12136244-JUV-39 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 31y-two gastric polyps BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050008 17873119-Pat64 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050009 JP72-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050010 JP24 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050011 SNU-JP1 PubMed: Kim 2003, Journal: Kim 2003 - - - Korea (Asian) - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050012 1469 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050013 12136244-JUV-28 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 52y-gastroscopy because of duodenal ulcer, no gastric polyposis BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050014 5418 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050015 JP52 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050016 17873119-Pat45 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050017 JP74-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050018 case 6 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050019 JP154-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050020 JP19 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050021 E1 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 8 Global Variome, with Curator vacancy
00050022 12136244-JUV-27 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS ventricular or atrial septal defect (congenital heart disease); gastric polyposis not examined BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050023 20 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050025 341 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050026 case 7 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050027 18 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050028 12136244-JUV-17 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS gastric polyposis not examined BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050029 19 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050030 10 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050031 JP61 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050032 JP59 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050033 JP7/19 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050034 B2 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 5 Global Variome, with Curator vacancy
00050035 17873119-Pat59 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050036 JP8/1 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050037 SM316 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050038 Group 2/G PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050039 Group 2/F PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050040 case 3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050041 12 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
00050042 17873119-Pat70 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... BMPR1A BMPR1A 1 1 Global Variome, with Curator vacancy
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