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 -
Individuals reported having this disease 618
Phenotype entries for this disease 612
Associated with 2 genes BMPR1A, SMAD4
Associated tissues -
Disease features -
Remarks -


Individuals

618 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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