Phenotypes for disease #05464

552 entries on 6 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     

Individual ID     
0000141834 endometrial cancer - endometrial cancer at age 45 et colon cancer at age 60 Familial, autosomal dominant - 45y 45y - - - - Florence Coulet 00177022
0000144243 - - MSI-H; 47y colon C; mother 50y endometrial C, 60y skin C, 70y colon C; maternal cousin 43y cervix C; maternal half-brother 39y seminome; maternal niece 17y lymphoma Familial, autosomal dominant - - 47y - MLH1+;MSH2-;MSH6-;PMS2+ - - Elke Holinski-Feder 00183539
0000144263 - - Bethesda positive Unknown - - - - - - - Michael Woods 00183582
0000146855 - - Adenocarcinoma Unknown - - 47y - MLH1+;MSH2+;MSH6+;PMS2+ High(3 markers) CRC Ruth Armstrong 00186880
0000146856 - - Bowel Cancer; Breast-63y; Colon 66y Unknown - - - - - - breast cancer, CRC Ruth Armstrong 00186881
0000146857 - - Endometrial Cancer, Follicular Lymphoma,Melanoma,Squamous cell carcinoma Unknown - - 61y - MLH1+;MSH2+;MSH6-;PMS2+;MSH6_altered - endometrial cancer Ruth Armstrong 00186882
0000146858 - - Endometrioid adenocarinoma, MSH6 protein expression: Negative/Abnormal Unknown - - 43y - MLH1+;MSH2+;MSH6-;PMS2+;MSH6_altered - endometrial tumour Ruth Armstrong 00186883
0000146859 - - Adenocarcinoma Unknown - - 43y - MLH1+;MSH2+;MSH6-;PMS2+;MSH6_altered - CRC Ruth Armstrong 00186884
0000146860 - - Sigmoid mucinous adenocarcinoma, 3xTVA, MSH2 protein expression: weak Unknown - - 51y - MLH1+;MSH6-;PMS2+;MSH2_weak High-(3 Marker) CRC Ruth Armstrong 00186885
0000146861 - - Transverse Colon adenocarcinoma, >=35 pol Unknown - - 58y - MLH1+;MSH2+;MSH6+;PMS2+ On list CRC Ruth Armstrong 00186886
0000146862 - - Rectal Adenocarcinoma Unknown - - 48y - MLH1+;MSH2+;MSH6+;PMS2+ On list CRC Ruth Armstrong 00186887
0000146863 - - Ascending colon adenocarcinoma Unknown - - 18y - MLH1+;MSH2+;MSH6+;PMS2+ Will DW SK CRC Ruth Armstrong 00186888
0000146864 - - Caecal Adenocarcinoma Unknown - - 46y - MLH1+;MSH2+;MSH6+;PMS2+ Will DW MF CRC Ruth Armstrong 00186889
0000146865 - - Ascending Colon adenocarcinoma Unknown - - 47y - MLH1+;MSH2+;MSH6+;PMS2+ Will request CRC Ruth Armstrong 00186890
0000146866 - - Sebaceous adenoma, 1 dysplastic polyp Unknown - - 79y - MLH1+;MSH2-;MSH6-;PMS2+ - sebaceous adenoma Ruth Armstrong 00186891
0000146867 - - Sigmoid Adenocarcinoma Unknown - - 39y - MLH1+;MSH2+;MSH6+;PMS2+ - CRC Ruth Armstrong 00186892
0000146868 - - Ascending Colon Adenocarcinoma Unknown - - 39y - MLH1+;MSH2+;MSH6+;PMS2+ - CRC Ruth Armstrong 00186893
0000146869 - - Two Primary Colorectal Adenocarcinoma Unknown - - 58y - MSH2+;MSH6+;MLH1_weak;PMS2_weak High (3 Markers) CRC InSiGHT - John-Paul Plazzer 00186894
0000146870 - - Rectal Adenocarcinoma Unknown - - 45y - MLH1+;MSH2+;MSH6+;PMS2+ Will DW SK CRC Ruth Armstrong 00186895
0000146871 - - Endometriod Carcinoma Unknown - - 46y - MLH1+;MSH2+;MSH6+;PMS2+ On MSI list endometrial cancer Ruth Armstrong 00186896
0000146872 - - Bowel Cancer Unknown - - 77y - MLH1+;MSH2+;MSH6+;PMS2+ Will contact family CRC Ruth Armstrong 00186897
0000146873 - - Colorectal carcinoma Unknown - - 54y - MLH1+;MSH2+;MSH6+ 1 Marker(bat26) CRC Ruth Armstrong 00186898
0000146874 - - Colorectal Carcinoma-30y;Endometrial Ca-51y Unknown - - - - - - CRC, endometrial cancer Ruth Armstrong 00186899
0000146875 - - Rectal Carcinoma Unknown - - 50y - MLH1+;MSH2+;MSH6+;PMS2+ - CRC Ruth Armstrong 00186900
0000146876 - - Sigmoid mucinous adenocarcinoma Familial - - 31y - MLH1+;MSH2+;MSH6+;PMS2+ Stable (5 markers) family History,TVA Ruth Armstrong 00186901
0000146877 - - CRC Unknown - - 48y - - - CRC Ruth Armstrong 00186902
0000146878 - - 2 separate CRC-63y,64y Familial - - - - MLH1-;MSH2+;MSH6+;PMS2- - family history, CRC Ruth Armstrong 00186903
0000146879 - - Right Colon Adenocarcinoma Unknown - - 40y - MLH1-;MSH2+;MSH6+ - CRC Ruth Armstrong 00186904
0000146880 - - No tumour/not symptomatic Familial - - - - - - family history Ruth Armstrong 00186905
0000146881 - - Colorectal Carcinoma Unknown - - 40y - - - CRC Ruth Armstrong 00186906
0000146882 - - No tumour/not symptomatic Familial - - - - - - family history Ruth Armstrong 00186907
0000146883 - - Sebaceous tumour Unknown - - 80y - MLH1-;MSH2+;MSH6+;MSH6- - Hepatobillary cancer, leuk and sebaceous tumour Ruth Armstrong 00186908
0000146884 - - HNPCC3, ovarian cancer 43y, colon cancer 51y, endometrial cancer 65y Familial - - 43y - - - - InSiGHT - John-Paul Plazzer 00186909
0000146885 - - colorectal cancer 42y Familial - - 42y - - - - Johan den Dunnen 00186910
0000146886 - - CRC; Unspecified Gynecological Cancer. 21y and 50y; Familial - - - - - - family history InSiGHT - John-Paul Plazzer 00186911
0000146887 - - crc Familial - - 44y - - - family history InSiGHT - John-Paul Plazzer 00186912
0000146888 - - Sigmoid Cancer Unknown - - 47y - MLH1+;MSH2+;MSH6-;PMS2+ MSI-H positive fecal occult blood test InSiGHT - John-Paul Plazzer 00186923
0000146889 - - moderately differentiated adenocarcinoma of the rectum at age 50 Unknown - - 50y - MSH6- - - InSiGHT - John-Paul Plazzer 00186924
0000146912 - - Malignant neoplasm of descending colon (C18.6) Unknown - - 51y - - - - Elke Holinski-Feder 00187034
0000146913 - - Malignant neoplasm of bladder (C67) Unknown - - 51y - - - - Elke Holinski-Feder 00187034
0000146914 - - Malignant neoplasm of ureter (C66) Unknown - - 51y - - - - Elke Holinski-Feder 00187034
0000146915 - - Malignant neoplasm of renal pelvis (C65) Unknown - - 51y - - - - Elke Holinski-Feder 00187034
0000146916 - - Malignant neoplasm of cecum (C18.0) Unknown - - 52y - - - - Elke Holinski-Feder 00187034
0000146917 - - Malignant neoplasm of cecum (C18.0) Unknown - - 36y - - - - Elke Holinski-Feder 00187035
0000146921 - - - Unknown - - - - MLH1+ - - Michael Woods 00187067
0000146925 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187142
0000146932 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187216
0000146954 - - Additional info: yes; colon (52y); colloid CRC on adenoma; cecum; Pedigree available: yes; Unknown 52y - 52y - MLH1+;MSH2+;MSH6- stable unknown Maurizio Genuardi 00187385
0000146966 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187504
0000146974 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187529
0000146988 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187586
0000147007 - - - Unknown - - - - MSH2-;MSH6-;MLH1+;PMS2+ MSI-H - Martin Digweed 00187695
0000147015 - - - Unknown - - - - MLH1+ stable - Michael Woods 00187759
0000147030 - - - Unknown - - - - MSH6-;MLH1+;MSH2+;PMS2+ MSI-H - Martin Digweed 00187829
0000147035 - - - Unknown - - - - MSH6- - - INSiGHT group 00187869
0000147041 - - Additional info: no Pedigree available: no; Unknown - - - - - - - Javier Garcia-Planells 00187899
0000147045 - - - Unknown - - - - MLH1+;MSH2+;MSH6- MSI+ - INSiGHT group 00187916
0000147052 - - located in the (C)8 repetitive region in c termin Unknown - - - - - - - Michael Woods 00187953
0000147055 - - - Unknown - - - - MLH1+;MSH2+;MSH6- MSI+ - INSiGHT group 00187976
0000147056 - - - Unknown - - - - MLH1+;MSH2+;MSH6_equivocal MSI+ - INSiGHT group 00187977
0000147058 - - - Unknown - - - - - MSI+ - Michael Woods 00188003
0000147061 - - Additional info: transverse colon; Unknown 45y - 45y - MSH6- - Colorectal symptoms Mohd Nizam Zahary 00188026
0000147079 - - - Unknown - - - - - - - Michael Woods 00188202
0000147084 - - Additional info: sigmoid colon; Unknown 35y - 35y - MSH6- - Colorectal symptoms Mohd Nizam Zahary 00188265
0000147144 - - - Unknown - - - - - MSI+ - Michael Woods 00188406
0000147203 - - - Familial, autosomal dominant 51y - 46y - - - Infiltrative duodeno-jejunal adenocarcinoma diagnosis at 46y and endometrian cystadenoma diagnosed at 42y Giulia Martina Cavestro, M.D., Ph.D. 00188553
0000147216 - - - Familial, autosomal dominant 48y - - - MLH1- MSS - Barbara Luisa Soares 00188571
0000147217 - - - Unknown - - 49y - - - Bethesda Barbara Luisa Soares 00188572
0000147280 - - colorectal adenocarcinoma; BRAF V600E negative (SEQ) Unknown - - 67y - MLH1- MSI-H (5/5) MLH1 def, MSI-H, BRAF WT CRC Sean Young 00188771
0000147295 - - - Unknown - - - - - MSI-H - Michael Woods 00188833
0000147637 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00190976
0000147638 - - - Unknown - - - - - MSI-H - Michael Woods 00190979
0000147639 - - - Unknown 49y - 49y - - - - Michael Woods 00190997
0000147640 - - age onset 41, location: colon traverse, histology: adenocarcinoma, stage 1 Unknown - - - - - stable - Michael Woods 00191059
0000147641 - - age onset 49, location: colon traverse, histology: adenocarcinoma, stage 2 Unknown - - - - - MSI-H - Michael Woods 00191063
0000147642 - - age onset 47, location: colon traverse, histology: adenocarcinoma, stage 2 Unknown - - - - - stable - Michael Woods 00191129
0000147643 - - - Unknown - - - - - MSI+ - Rolf Sijmons 00191140
0000147644 - - - Unknown - - - - MLH1- MSI-H - Rolf Sijmons 00191142
0000147645 - - HNPCC, young onset Unknown - - - - - - - Michael Woods 00191146
0000147648 - - - Unknown - - - - MLH1+ stable - Michael Woods 00191239
0000147650 - - - Unknown - - - - - MSI-H - Michael Woods 00191279
0000147651 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00191295
0000147652 - - - Unknown - - - - - MSI-H - Michael Woods 00191424
0000147653 - - - Unknown - - - - - MSI-H - Michael Woods 00191452
0000147654 - - - Unknown - - - - - MSI-H - Michael Woods 00191456
0000147655 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00191485
0000147656 - - - Unknown - - - - - MSI-H - Michael Woods 00191552
0000147657 - - - Unknown - - - - - MSI-H - Michael Woods 00191571
0000147658 - - - Unknown - - - - - MSI-H - Michael Woods 00191590
0000147659 - - - Unknown - - - - - stable - Michael Woods 00191607
0000147660 - - - Unknown - - - - - MSI+ - Michael Woods 00191675
0000147661 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00191678
0000147662 - - - Unknown - - - - - MSI+ - Michael Woods 00191739
0000147663 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00191820
0000147664 - - - Unknown - - - - MLH1- MSI-L - Michael Woods 00191865
0000147665 - - - Unknown - - - - - MSI-H - Michael Woods 00191912
0000147670 - - - Unknown - - - - - MSI-H - Michael Woods 00192118
0000147672 - - - Unknown - - - - - MSI+ - Michael Woods 00192199
0000147673 - - - Unknown - - - - MLH1- MSI-H - Michael Woods 00192327
0000147674 - - - Unknown - - - - - MSI+ - Michael Woods 00192357
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