Disease #00341 (PJS (Peutz-Jeghers syndrome (PJS)), OMIM:175200)

Official abbreviation PJS
Name Peutz-Jeghers syndrome (PJS)
OMIM ID 175200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 29
Phenotype entries for this disease 29
Associated with 1 gene STK11
Associated tissues -
Disease features -
Remarks -
Date created 2014-03-05 21:05:29 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00016109 - - - F - China Han >31y - - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016110 - - - M - China Han >28y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016111 - - - F - China Han >42y - - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016112 - - - F - (China) Han >32y - - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016113 - - - F - China Han >16y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016114 - - - M - China Han >45y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016115 - - - M - China Han 56y - - - PJS - STK11 STK11 1 4 Zhiqing Wang
00016116 - - - M - China Han >18y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016117 - - - M - China Han 60y - - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016118 - - - F - China Han >36y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016119 - - - F - China Han >32y - - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016120 - - - M - China Han >56y - - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016121 - - - M - China Han >46y - - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016122 - - - M - China Han 59y - - - PJS - STK11 STK11 1 5 Zhiqing Wang
00100944 - - - - - Germany - - - - - PJS - STK11 STK11 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00183555 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183556 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183557 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183558 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - - - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183647 PJ1 - 2 generation family, 2 first degree relatives are mutation carrier F no India Asian 46y - - - PJS - STK11 STK11 1 3 Rajiv Sarin, PhD
00183648 PJ2 - - F no India Asian >45y - - - PJS Family history of breast cancer in mother. Proband has mucocutaneous pigmentation and GI polyps STK11 STK11 1 1 Rajiv Sarin, PhD
00183649 PJ3 - - M no India Asian 41y - - - PJS small bowel cancer with polyposis and mucocutaneous pigmentation. Son of proband also has pigmentation and is carrier of the mutation STK11 STK11 2 2 Rajiv Sarin, PhD
00183650 PJ4 - - M no India Asian >21y - - - PJS - STK11 STK11 1 1 Rajiv Sarin, PhD
00183651 PJ5 - - F no India Asian 34y - - - PJS gonadoblastoma of ovary with multiple hamartomatous polyposis STK11 STK11 1 1 Rajiv Sarin, PhD
00183652 PJ6 - - F no India Asian >47y - - - PJS hyperpigmentation, infiltrating ductal carcinoma of breast Grade III with ER/PR/Her2 +/+/- STK11 STK11 1 1 Rajiv Sarin, PhD
00183653 PJ7 - - F no India Asian >54y - - - PJS hyperpigmentation, infiltrating ductal carcinoma of breast Grade III with ER/PR/Her2 +/+/- STK11 STK11 1 1 Rajiv Sarin, PhD
00289435 - Journal: Terkelsen 2020 - M - Denmark - - - - - PJS Hamartomatous polyposis (HP:0004390), adenocarcinoma of the large intestine (HP:0040275) STK11 STK11 1 1 Thorkild Terkelsen
00393152 189107 - - F ? Germany - - - - - PJS Abnormality of skin pigmentation, Abnormal pigmentation of the oral mucosa STK11 STK11 1 1 Andreas Laner
00416445 203676_182721_ISY - - F - Germany - - - - - PJS Hamartomatous polyposis, Intestinal obstruction, Abnormal stomach morphology, Colorectal polyposis, Hepatic cysts STK11 STK11 1 1 Andreas Laner
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