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Phenotypes for disease #05464 (HNPCC (cancer, colorectal, nonpolyposis, hereditary (HNPCC, Lynch syndrome)))
Legend
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Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
Tumor/MSI
: tumor MSI (micro-sattelite instability); MSI-H (MSI-high), MSI-L (MSI-low), MSS ( microsatellite stable), ? (unknown), n/a (not analysed)
Diagnosis/Criteria
: why was individual tested?
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!fs
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^p.(Arg
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Date
2020
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Date
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Date
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Date
<2020
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Date
<=2020-06
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Date
>2020-06
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Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
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Numeric
23|24
all entries exactly matching 23 or 24
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Numeric
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Numeric
<23
all entries lower than 23
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Numeric
<=23
all entries lower than, or equal to, 23
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Numeric
>23
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Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
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Matches
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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573 entries on 6 pages. Showing entries 1 - 100.
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Phenotype 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
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-
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MSI+
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Michael Woods
00192199
0000147673
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-
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Unknown
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MLH1-
MSI-H
-
Michael Woods
00192327
0000147674
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-
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Unknown
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-
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-
-
MSI+
-
Michael Woods
00192357
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