PJS
MCID: PTZ001
MIFTS: 77

Peutz-Jeghers Syndrome (PJS) malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Peutz-Jeghers Syndrome

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NIH Rare Diseases:42 Peutz-jeghers syndrome(pjs) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. t hese polyps occur most often in the small intestine but also occur in the stomach and large intestine. affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. affected individuals have an increased risk for intestinal and other cancers. most cases of pjs can be attributed to mutations in the stk11 gene. last updated: 3/4/2010

MalaCards based summary: Peutz-Jeghers Syndrome, also known as PJS, is related to adenoma and testicular cancer, and has symptoms including melanocytic nevus, hypermelanotic macule and abnormal pigmentation of the oral mucosa. An important gene associated with Peutz-Jeghers Syndrome is STK11 (serine/threonine kinase 11), and among its related pathways are Integration of energy metabolism and FoxO signaling pathway. The compounds phenformin and acadesine have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and skin, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Genetics Home Reference:22 Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.

OMIM:46 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal... (175200) more...

Wikipedia:64 Peutz-Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant... more...

GeneReviews summary for pjs

Aliases & Classifications for Peutz-Jeghers Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 64Wikipedia, 20GeneReviews, 22Genetics Home Reference, 46OMIM, 11DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 42NIH Rare Diseases, 21GeneTests, 23GTR, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Peutz-Jeghers Syndrome, Aliases & Descriptions:

Name: Peutz-Jeghers Syndrome 9 10 64 20 22 46 11 44 48 61
Pjs 64 20 42 22 48
Periorificial Lentiginosis Syndrome 64 42 22 61
Polyposis, Hamartomatous Intestinal 64 42 22 61
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 64 22 61
Polyps-and-Spots Syndrome 64 42 22
Peutz-Jeghers Polyposis 42 22 61
Lentiginosis, Perioral 64 42 22
Peutz Jeghers Syndrome 42 21 23
Peutz-Jeghers Polyp of Small Intestine 9 61
 
Peutz-Jeghers Small Bowel Hamartoma 9 61
Gastric Peutz-Jeghers Polyp 9 61
Polyposis, Intestinal, Ii 64 22
Hamartomatous Intestinal Polyposis 48
Colonic Hamartomatous Polyps 61
Colonic Hamartomatous Polyp 9
Polyps and Spots Syndrome 48
Peutz Jeghers Colon Polyp 9
Peutz-Jeghers' Polyp 61
Peutz Jeghers Polyp 9


Classifications:



Characteristics (Orphanet epidemiological data):

48
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


External Ids:

Disease Ontology9 DOID:3852
NCIt39 C3324
MeSH34 D010580
OMIM46 175200
MESH via Orphanet35 D010580
ICD10 via Orphanet27 Q85.8
UMLS via Orphanet62 C0031269

Related Diseases for Peutz-Jeghers Syndrome

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Diseases related to Peutz-Jeghers Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.9STK11, TSC1, INHA, SMARCA4
2testicular cancer30.7STK11, INHA
3adenocarcinoma30.7TSC1, TSC2, INHA, SMARCA4, STK11
4familial adenomatous polyposis30.7PMS1, STK11
5von hippel-lindau disease30.7TSC2, INHA
6tuberous sclerosis complex30.7TSC2, TSC1
7neurofibromatosis30.6TSC1, TSC2
8cowden disease30.4TSC1, TSC2, STK11
9tuberous sclerosis30.1TSC1, PRKAA2, STK11, TSC2
10melanoma29.8PMS1, STK11, INHA, SMARCA4, TSC2
11breast cancer29.6STK11, PRKAA2, INHA, TSC1, TSC2, PMS1
12intussusception11.1
13sertoli cell tumor10.8
14pancreatitis10.8
15gynecomastia10.7
16cervicitis10.7
17pancreatic cancer10.6
18endocervicitis10.6
19duodenitis10.6
20carney complex10.6
21thyroiditis10.6
22gastric cancer10.5
23cervical adenoma malignum10.5
24gastroduodenitis10.5
25bilateral breast cancer10.5
26gastric adenocarcinoma10.5
27angiolipoma10.4
28deficiency anemia10.4
29colorectal cancer10.4
30hepatitis10.4
31gastrointestinal carcinoma10.4
32iron deficiency anemia10.4
33gonadoblastoma10.4
34ovarian gonadoblastoma10.4
35cervical adenocarcinoma10.4
36colon adenocarcinoma10.4
37colon cancer10.4
38cystadenocarcinoma10.4
39intestinal obstruction10.4
40precocious puberty10.4
41blindness10.4
42gastric outlet obstruction10.4
43colorectal adenoma10.4
44cervical cancer10.3
45cholangiocarcinoma10.3
46retinitis pigmentosa10.3
47sickle cell anemia10.3
48acute pancreatitis10.3
49neuroendocrine carcinoma10.3
50cronkhite-canada syndrome10.3

Graphical network of the top 20 diseases related to Peutz-Jeghers Syndrome:



Diseases related to peutz-jeghers syndrome

Symptoms for Peutz-Jeghers Syndrome

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Symptoms by clinical synopsis from OMIM:

175200

Clinical features from OMIM:

175200

Symptoms:

 48 (show all 34)
  • lip hyperpigmentation
  • abnormal pigmentation of the oral mucosa/gingivae
  • macules
  • pigmented naevi/naevus pigmentosus/lentigo
  • polyposis of the bowel/colon/intestine
  • neoplasms/tumors
  • digestive neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • nasal polyposis
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • abnormal nails colour/leukonychia/melanonychia
  • anus/rectum anomalies
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • mesenteric/intestinal infarction
  • bladder and ureter anomalies
  • head and neck neoplasm/tumor/carcinoma/cancer
  • nose/nasal sinus neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • breast neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Peutz-Jeghers Syndrome:

(show all 47)
id Description Frequency HPO Source Accession
1 melanocytic nevus hallmark (90%) HP:0000995
2 hypermelanotic macule hallmark (90%) HP:0001034
3 abnormal pigmentation of the oral mucosa hallmark (90%) HP:0100669
4 lip hyperpigmentation hallmark (90%) HP:0100816
5 intestinal polyposis hallmark (90%) HP:0200008
6 gynecomastia occasional (7.5%) HP:0000771
7 nausea and vomiting occasional (7.5%) HP:0002017
8 abdominal pain occasional (7.5%) HP:0002027
9 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
10 neoplasm of the pancreas occasional (7.5%) HP:0002894
11 intestinal obstruction occasional (7.5%) HP:0005214
12 gastrointestinal infarctions occasional (7.5%) HP:0005244
13 neoplasm of the stomach occasional (7.5%) HP:0006753
14 renal neoplasm occasional (7.5%) HP:0009726
15 uterine neoplasm occasional (7.5%) HP:0010784
16 testicular neoplasm occasional (7.5%) HP:0010788
17 neoplasm of the breast occasional (7.5%) HP:0100013
18 neoplasm of the colon occasional (7.5%) HP:0100273
19 neoplasm of the lung occasional (7.5%) HP:0100526
20 biliary tract neoplasm occasional (7.5%) HP:0100574
21 nasal polyposis occasional (7.5%) HP:0100582
22 ovarian neoplasm occasional (7.5%) HP:0100615
23 neoplasia of the nose occasional (7.5%) HP:0100637
24 abnormality of nail color occasional (7.5%) HP:0100643
25 neoplasm of the rectum occasional (7.5%) HP:0100743
26 esophageal neoplasm occasional (7.5%) HP:0100751
27 neoplasm of the small intestine occasional (7.5%) HP:0100833
28 autosomal dominant inheritance HP:0000006
29 abnormality of the ureter HP:0000069
30 ovarian cyst HP:0000138
31 abnormality of the mouth HP:0000153
32 gynecomastia HP:0000771
33 hypermelanotic macule HP:0001034
34 hypermelanotic macule HP:0001034
35 biliary tract abnormality HP:0001080
36 iron deficiency anemia HP:0001891
37 abdominal pain HP:0002027
38 rectal prolapse HP:0002035
39 intussusception HP:0002576
40 intestinal bleeding HP:0002584
41 gastrointestinal carcinoma HP:0002672
42 neoplasm of the pancreas HP:0002894
43 breast carcinoma HP:0003002
44 hamartomatous polyps HP:0004390
45 precocious puberty with sertoli cell tumor HP:0008204
46 nasal polyposis HP:0100582
47 clubbing of fingers HP:0100759

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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Drug clinical trials:

Search ClinicalTrials for Peutz-Jeghers Syndrome

Search NIH Clinical Center for Peutz-Jeghers Syndrome

Genetic Tests for Peutz-Jeghers Syndrome

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Genetic tests related to Peutz-Jeghers Syndrome:

id Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome21 23 STK11

Anatomical Context for Peutz-Jeghers Syndrome

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MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

32
Colon, Small intestine, Skin, Eye, Breast, Cervix, Ovary, Lung, Pancreas, Kidney, Uterus, Thyroid, Testes, Testis, Heart, Liver, Appendix

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

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Publications for Peutz-Jeghers Syndrome

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Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Metastatic ovarian sex-cord stromal tumor with annular tubules in a patient without Peutz-Jeghers syndrome. (24932834)
2014
2
Rectal carcinoma in a young female patient with peutz-jeghers syndrome: a case report. (24008657)
2014
3
Exome sequencing revealed novel germline mutations in chinese peutz-jeghers syndrome patients. (24154639)
2014
4
Multifocal Jejuno-ileal carcinoma in a 7-year-old boy with Peutz-Jeghers syndrome: A rare occurence. (25006304)
2014
5
Jejunal intussusception and polyps with different types of malignant transformation in Peutz-Jeghers syndrome: Report of a case. (23255928)
2013
6
Peutz-Jeghers syndrome and family survey: a case report. (23638235)
2013
7
Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: clinical and surgical management. (23968963)
2013
8
Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. (21538021)
2012
9
Double-balloon endoscopy in patients with Peutz-Jeghers syndrome. (23161293)
2012
10
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
11
Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. (21086168)
2011
12
Small bowel intussusception caused by a jejunal polyp in Peutz-Jeghers syndrome: a case treated with double balloon enteroscopy. (20658191)
2011
13
Elevation of WNT5A expression in polyp formation in Lkb1+/- mice and Peutz-Jeghers syndrome. (21341271)
2011
14
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (20435009)
2010
15
Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. (20428811)
2010
16
Multiple intestinal intussusceptions in Peutz-Jeghers' syndrome: a case report. (20306920)
2010
17
Composite cervical adenocarcinoma composed of adenoma malignum and gastric type adenocarcinoma (dedifferentiated adenoma malignum) in a patient with Peutz Jeghers syndrome. (20876329)
2010
18
Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. (19250387)
2009
19
A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation. (19955943)
2009
20
Peutz-Jeghers syndrome: are "shaggy" villi part of the pathology? (18657807)
2008
21
A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. (17599048)
2007
22
Peutz-Jeghers syndrome. (17707154)
2007
23
The utility of wireless capsule endoscopy, as compared with barium contrast study, in a case of Peutz-Jeghers syndrome. (17343087)
2006
24
Double-balloon endoscopy and Peutz-Jeghers syndrome: a new look at an old disease. (17106494)
2006
25
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991310)
2005
26
Sertoli cell tumor causing prepubertal gynecomastia in a boy with peutz-jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone. (15947469)
2005
27
Minimally invasive diagnosis of Peutz-Jeghers syndrome. (15181624)
2004
28
Utility of capsule endoscopy in Peutz-Jeghers syndrome. (15062389)
2004
29
Peutz-Jeghers syndrome: report of 6 cases in a family and management of polyps with intraoperative endoscopy. (15492915)
2004
30
A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. (14726968)
2003
31
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2. (12438709)
2002
32
Intestinal intussusception and occlusion caused by small bowel polyps in the Peutz-Jeghers syndrome. Management by combined intraoperative enteroscopy and resection through minimal enterostomy: case report. (11313662)
2000
33
Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor]. (10774296)
2000
34
Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. (10644993)
2000
35
Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. (11103790)
2000
36
Genetic heterogeneity in Peutz-Jeghers syndrome. (10874301)
2000
37
Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. (11595829)
2000
38
The molecular basis and clinical aspects of Peutz-Jeghers syndrome. (10379360)
1999
39
Peutz-Jeghers syndrome: case report. (10750512)
1999
40
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
41
Peutz-Jeghers syndrome: risks of a hereditary condition. (10499464)
1999
42
A new simple technique for performing intraoperative endoscopic resection of small-bowel polyps in patients with Peutz-Jeghers syndrome. (10385381)
1999
43
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (10320891)
1998
44
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. (8988175)
1997
45
Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. (8188091)
1994
46
Peutz-Jeghers syndrome in association with adenoma malignum (minimal deviation adenocarcinoma) of the cervix. Case report. (2804013)
1989
47
Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases. (3739431)
1986
48
Peutz-Jeghers syndrome. (7436458)
1980
49
Peutz-Jeghers syndrome with feminizing sertoli cell tumor. (6770991)
1980
50
Extensive metastases in Peutz-Jeghers syndrome. (650807)
1978

Variations for Peutz-Jeghers Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Peutz-Jeghers Syndrome:

63
id Symbol AA change Variation ID SNP ID
1STK11p.Leu67ProVAR_006202
2STK11p.Asp194AsnVAR_007921
3STK11p.Arg297LysVAR_007922
4STK11p.Trp239CysVAR_033142
5STK11p.Pro315SerVAR_033144
6STK11p.Glu16GlyVAR_065628
7STK11p.Asp176AsnVAR_071058
8STK11p.Trp308CysVAR_071059

Clinvar genetic disease variations for Peutz-Jeghers Syndrome:

7 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1STK11STK11, EX4-5DEL/EX6-7INVdeletionPathogenic
2STK11NM_000455.4(STK11): c.759C> A (p.Tyr253Ter)single nucleotide variantPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
3STK11NM_000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicGRCh38Chr 19, 1221321: 1221321
4STK11NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs)deletionPathogenicGRCh38Chr 19, 1220701: 1220704
5STK11NM_000455.4(STK11): c.465-1G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 1220372: 1220372
6STK11NM_000455.4(STK11): c.250A> T (p.Lys84Ter)single nucleotide variantPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
7STK11NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs)deletionPathogenicGRCh38Chr 19, 1221312: 1221313
8STK11NM_000455.4(STK11): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
9STK11NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)deletionPathogenicGRCh38Chr 19, 1221994: 1222002
10STK11NM_000455.4(STK11): c.169G> T (p.Glu57Ter)single nucleotide variantPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
11STK11NM_000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
12STK11NM_000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
13STK11NM_000455.4(STK11): c.717G> C (p.Trp239Cys)single nucleotide variantPathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
14STK11NM_000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicGRCh37Chr 19, 1221976: 1221976
15STK11NM_000455.4(STK11): c.738C> G (p.Tyr246Ter)single nucleotide variantPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
16STK11NM_000455.4(STK11): c.1062C> G (p.Phe354Leu)single nucleotide variantPathogenicrs59912467GRCh37Chr 19, 1223125: 1223125

Expression for genes affiliated with Peutz-Jeghers Syndrome

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Expression patterns in normal tissues for genes affiliated with Peutz-Jeghers Syndrome

Search GEO for disease gene expression data for Peutz-Jeghers Syndrome.

Pathways for genes affiliated with Peutz-Jeghers Syndrome

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Pathways related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6PRKAA2, STK11
2
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.6PRKAA2, STK11
39.6PRKAA2, STK11
49.6STK11, PRKAA2
5
Show member pathways
9.6STK11, PRKAA2
69.4TSC2, TSC1
79.4TSC2, TSC1
8
Show member pathways
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
9.4TSC2, TSC1
99.4TSC2, TSC1
10
Show member pathways
mTOR signaling pathway37
9.4TSC1, TSC2
119.1SMARCA4, TSC2
129.1TSC2, STK11, PRKAA2
139.1STK11, TSC2, TSC1
14
Show member pathways
9.0TSC1, PRKAA2, TSC2
159.0TSC2, PRKAA2, TSC1
16
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
8.6SMARCA4, TSC2, TSC1
178.6SMARCA4, TSC1, TSC2
188.6PRKAA2, TSC1, TSC2, STK11
198.6TSC1, TSC2, PRKAA2, STK11
20
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
8.6TSC1, TSC2, PRKAA2, STK11
21
Show member pathways
8.6TSC2, TSC1, PRKAA2, STK11
22
Show member pathways
8.6PRKAA2, TSC2, TSC1, STK11
23
Show member pathways
8.6PRKAA2, TSC1, STK11, TSC2
24
Show member pathways
8.6STK11, TSC1, TSC2, PRKAA2
258.2STK11, SMARCA4, TSC1, TSC2
26
Show member pathways
7.8STK11, PRKAA2, TSC1, TSC2, SMARCA4

Compounds for genes affiliated with Peutz-Jeghers Syndrome

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Compounds related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1phenformin44 1211.0PRKAA2, STK11
2acadesine4410.0STK11, PRKAA2
3aicar44 25 1211.9STK11, PRKAA2
42-deoxyglucose44 1210.8STK11, PRKAA2
5metformin44 50 1211.8PRKAA2, STK11
6everolimus44 50 1211.7TSC1, TSC2
7guanosine44 25 1211.5TSC2, TSC1
8fatty acid449.5INHA, PRKAA2, STK11
9androstane449.5SMARCA4, PRKAA2
10adenylate449.3STK11, PRKAA2, TSC2
11phosphoinositide449.3TSC2, TSC1, PRKAA2
12alanine449.0INHA, TSC1, PRKAA2, STK11
13paraffin449.0STK11, TSC1, TSC2, INHA
14rapamycin449.0STK11, PRKAA2, TSC1, TSC2
15phosphatidylinositol449.0PRKAA2, TSC1, TSC2
16glycogen44 2510.0TSC2, TSC1, PRKAA2, STK11
17vegf448.9STK11, PRKAA2, TSC1, TSC2
18cyclic amp44 259.9STK11, SMARCA4, INHA
19threonine448.9TSC2, TSC1, PRKAA2, STK11
20testosterone44 60 25 1211.6TSC2, SMARCA4, INHA
21serine448.6TSC2, TSC1, PRKAA2, STK11
22atp44 299.6STK11, PRKAA2, TSC2, SMARCA4
23estrogen448.6INHA, SMARCA4, TSC2, PRKAA2
24lipid448.5STK11, PRKAA2, TSC2, SMARCA4
25steroid448.4INHA, SMARCA4, TSC2
26glucose448.1SMARCA4, TSC2, TSC1, PRKAA2, STK11
27tyrosine448.1INHA, SMARCA4, TSC2, TSC1, PRKAA2

GO Terms for genes affiliated with Peutz-Jeghers Syndrome

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Cellular components related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.3TSC1, TSC2
2growth coneGO:0304269.1TSC1, TSC2
3membraneGO:0160209.1STK11, TSC1, TSC2

Biological processes related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of fatty acid biosynthetic processGO:0423049.9STK11, PRKAA2
2autophagyGO:0069149.7PRKAA2, STK11
3glucose homeostasisGO:0425939.6STK11, PRKAA2
4negative regulation of cell sizeGO:0457929.6TSC2, TSC1
5cell projection organizationGO:0300309.6TSC1, TSC2
6neural tube closureGO:0018439.5TSC1, TSC2
7regulation of cell cycleGO:0517269.4TSC2, INHA
8energy reserve metabolic processGO:0061129.3STK11, PRKAA2
9protein heterooligomerizationGO:0512919.3STK11, TSC1, TSC2
10negative regulation of cell growthGO:0303089.3STK11, SMARCA4
11negative regulation of TOR signalingGO:0320079.2TSC2, TSC1, PRKAA2
12negative regulation of cell proliferationGO:0082859.2STK11, TSC1, TSC2
13insulin receptor signaling pathwayGO:0082868.9TSC2, TSC1, PRKAA2, STK11
14cell cycle arrestGO:0070508.5STK11, PRKAA2, TSC1, TSC2, INHA

Molecular functions related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.3STK11, SMARCA4
2protein N-terminus bindingGO:0474859.1TSC1, SMARCA4
3ATP bindingGO:0055248.1SMARCA4, PMS1, PRKAA2, STK11
4protein bindingGO:0055157.1INHA, SMARCA4, TSC2, TSC1, PRKAA2, STK11

Products for genes affiliated with Peutz-Jeghers Syndrome

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  • Antibodies
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Sources for Peutz-Jeghers Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet