Disease #00341

Official abbreviation PJS
Name Peutz-Jeghers syndrome (PJS)
OMIM ID 175200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 1 gene STK11
Associated tissues -
Disease features -
Remarks -


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00016109 - - - F - China Han >31y 0 - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016110 - - - M - China Han >28y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016111 - - - F - China Han >42y 0 - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016112 - - - F - (China) Han >32y 0 - - PJS - STK11 STK11 1 2 Zhiqing Wang
00016113 - - - F - China Han >16y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016114 - - - M - China Han >45y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016115 - - - M - China Han 56y 0 - - PJS - STK11 STK11 1 4 Zhiqing Wang
00016116 - - - M - China Han >18y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016117 - - - M - China Han 60y 0 - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016118 - - - F - China Han >36y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016119 - - - F - China Han >32y 0 - - PJS - STK11 STK11 1 1 Zhiqing Wang
00016120 - - - M - China Han >56y 0 - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016121 - - - M - China Han >46y 0 - - PJS - STK11 STK11 1 3 Zhiqing Wang
00016122 - - - M - China Han 59y 0 - - PJS - STK11 STK11 1 5 Zhiqing Wang
00100944 - - - - - Germany - - 0 - - PJS - STK11 STK11 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00183555 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183556 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183557 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - PJS Peutz-Jeghers STK11 STK11 1 1 Stephanie Baert-Desurmont
00183558 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - 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 0 - - PJS - STK11 STK11 1 3 Rajiv Sarin, PhD
00183648 PJ2 - - F no India Asian >45y 0 - - 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 0 - - 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 0 - - PJS - STK11 STK11 1 1 Rajiv Sarin, PhD
00183651 PJ5 - - F no India Asian 34y 0 - - PJS gonadoblastoma of ovary with multiple hamartomatous polyposis STK11 STK11 1 1 Rajiv Sarin, PhD
00183652 PJ6 - - F no India Asian >47y 0 - - 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 0 - - PJS hyperpigmentation, infiltrating ductal carcinoma of breast Grade III with ER/PR/Her2 +/+/- STK11 STK11 1 1 Rajiv Sarin, PhD
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