PJS
MCID: PTZ001
MIFTS: 76

Peutz-Jeghers Syndrome (PJS) malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Peutz-Jeghers Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Peutz-Jeghers Syndrome, also known as PJS, is related to adenocarcinoma and adenoma, and has symptoms including breast neoplasm/tumor/carcinoma/cancer, uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer and ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma). An important gene associated with Peutz-Jeghers Syndrome is STK11 (serine/threonine kinase 11), and among its related pathways are Adipocytokine signaling pathway and Integration of energy metabolism. 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:21 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.

Wikipedia:65 Peutz?Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant... more...

Description from OMIM:47 175200

GeneReviews summary for pjs

Aliases & Classifications for Peutz-Jeghers Syndrome

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8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

peutz-jeghers syndrome 8 9 65 19 21 47 10 45 49 62
pjs 65 19 43 21 49
polyposis, hamartomatous intestinal 65 43 21
periorificial lentiginosis syndrome 65 43 21
polyps-and-spots syndrome 65 43 21
lentiginosis, perioral 65 43 21
peutz jeghers syndrome 43 20 22
intestinal polyposis-cutaneous pigmentation syndrome 65 21
polyposis, intestinal, ii 65 21
peutz-jeghers polyposis 43 21
peutz-jeghers polyp of small intestine 8
peutz-jeghers small bowel hamartoma 8
hamartomatous intestinal polyposis 49
colonic hamartomatous polyps 62
gastric peutz-jeghers polyp 8
colonic hamartomatous polyp 8
polyps and spots syndrome 49
peutz jeghers colon polyp 8
peutz–jeghers syndrome 65
peutz jeghers polyp 8


External Ids:

Disease Ontology8 DOID:3852
MeSH35 D010580
OMIM47 175200
NCIt40 C3324
MESH via Orphanet36 D010580
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet59 54411001
UMLS via Orphanet63 C0031269

Related Diseases for Peutz-Jeghers Syndrome

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17GeneCards, 18GeneDecks
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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 105)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.3INHA, SMARCA4, TSC2, TSC1, STK11
2adenoma31.2STK11, TSC1, SMARCA4, INHA
3breast cancer30.7INHA, SMARCA4, PMS1, TSC2, TSC1, PRKAA2
4familial adenomatous polyposis30.6STK11, PMS1
5testicular cancer30.5INHA, STK11
6von hippel-lindau disease30.4TSC2, INHA
7tuberous sclerosis complex30.4TSC1, TSC2
8neurofibromatosis30.4TSC1, TSC2
9melanoma30.4INHA, SMARCA4, PMS1, TSC2, STK11
10cowden disease30.4STK11, TSC1, TSC2
11tuberous sclerosis30.3TSC2, TSC1, PRKAA2, STK11
12intussusception11.1
13sertoli cell tumor10.8
14pancreatitis10.8
15gynecomastia10.7
16cervicitis10.7
17duodenitis10.6
18pancreatic cancer10.6
19carney complex10.6
20thyroiditis10.6
21cervical adenoma malignum10.5
22gastroduodenitis10.5
23endocervicitis10.5
24bilateral breast cancer10.5
25gastric adenocarcinoma10.5
26deficiency anemia10.4
27iron deficiency anemia10.4
28gonadoblastoma10.4
29ovarian gonadoblastoma10.4
30cervical adenocarcinoma10.4
31colon adenocarcinoma10.4
32colon cancer10.4
33colorectal cancer10.4
34cystadenocarcinoma10.4
35precocious puberty10.4
36blindness10.4
37gastric outlet obstruction10.4
38colorectal adenoma10.3
39angiolipoma10.3
40neuroendocrine carcinoma10.3
41acute pancreatitis10.3
42sickle cell anemia10.3
43cleft lip10.3
44rectal prolapse10.3
45cronkhite-canada syndrome10.3
46protein-losing enteropathy10.3
47epithelioid leiomyosarcoma10.3
48obstructive jaundice10.3
49trilateral retinoblastoma10.3
50paraganglioma10.3

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

175200

Clinical features from OMIM:

175200

Symptoms:

49 (show all 32)
  • 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
  • nasal polyposis
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
  • intestinal obstruction/ileus
  • acute abdominal pain/colic
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • anus/rectum anomalies
  • abnormal nails colour/leukonychia/melanonychia
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • autosomal dominant inheritance
  • digestive neoplasm/tumor/carcinoma/cancer
  • pigmented naevi/naevus pigmentosus/lentigo
  • macules
  • mesenteric/intestinal infarction
  • bladder and ureter anomalies
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • nose/nasal sinus neoplasm/tumor/carcinoma/cancer
  • head and neck neoplasm/tumor/carcinoma/cancer
  • neoplasms/tumors
  • anaemia
  • abnormal pigmentation of the oral mucosa/gingivae

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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Genetic tests related to Peutz-Jeghers Syndrome:

id Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome20 22 STK11

Anatomical Context for Peutz-Jeghers Syndrome

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33MalaCards
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MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

33
Colon, Small intestine, Skin, Eye, Breast, Cervix, Ovary, Lung, Pancreas, Kidney, Uterus, Thyroid, Testes, Heart, Appendix, Liver, Testis

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

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37MGI
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Publications for Peutz-Jeghers Syndrome

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52PubMed
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Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 499)
idTitleAuthorsYear
1
Rectal carcinoma in a young female patient with peutz-jeghers syndrome: a case report. (24008657)
2014
2
Exome sequencing revealed novel germline mutations in chinese peutz-jeghers syndrome patients. (24154639)
2014
3
Jejunal intussusception and polyps with different types of malignant transformation in Peutz-Jeghers syndrome: Report of a case. (23255928)
2013
4
Peutz-Jeghers syndrome and family survey: a case report. (23638235)
2013
5
Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: clinical and surgical management. (23968963)
2013
6
Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. (21538021)
2012
7
Double-balloon endoscopy in patients with Peutz-Jeghers syndrome. (23161293)
2012
8
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
9
Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. (21086168)
2011
10
Small bowel intussusception caused by a jejunal polyp in Peutz-Jeghers syndrome: a case treated with double balloon enteroscopy. (20658191)
2011
11
Elevation of WNT5A expression in polyp formation in Lkb1+/- mice and Peutz-Jeghers syndrome. (21341271)
2011
12
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (20435009)
2010
13
Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. (20428811)
2010
14
Multiple intestinal intussusceptions in Peutz-Jeghers' syndrome: a case report. (20306920)
2010
15
Composite cervical adenocarcinoma composed of adenoma malignum and gastric type adenocarcinoma (dedifferentiated adenoma malignum) in a patient with Peutz Jeghers syndrome. (20876329)
2010
16
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. (19727776)
2010
17
Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. (19250387)
2009
18
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
19
Peutz-Jeghers syndrome: are "shaggy" villi part of the pathology? (18657807)
2008
20
A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. (17599048)
2007
21
Peutz-Jeghers syndrome. (17707154)
2007
22
The utility of wireless capsule endoscopy, as compared with barium contrast study, in a case of Peutz-Jeghers syndrome. (17343087)
2006
23
Double-balloon endoscopy and Peutz-Jeghers syndrome: a new look at an old disease. (17106494)
2006
24
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991310)
2005
25
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
26
Minimally invasive diagnosis of Peutz-Jeghers syndrome. (15181624)
2004
27
Utility of capsule endoscopy in Peutz-Jeghers syndrome. (15062389)
2004
28
Peutz-Jeghers syndrome: report of 6 cases in a family and management of polyps with intraoperative endoscopy. (15492915)
2004
29
A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. (14726968)
2003
30
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
31
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
32
Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor]. (10774296)
2000
33
Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. (10644993)
2000
34
Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. (11103790)
2000
35
Genetic heterogeneity in Peutz-Jeghers syndrome. (10874301)
2000
36
Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. (11595829)
2000
37
The molecular basis and clinical aspects of Peutz-Jeghers syndrome. (10379360)
1999
38
Peutz-Jeghers syndrome: case report. (10750512)
1999
39
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
40
Peutz-Jeghers syndrome: risks of a hereditary condition. (10499464)
1999
41
A new simple technique for performing intraoperative endoscopic resection of small-bowel polyps in patients with Peutz-Jeghers syndrome. (10385381)
1999
42
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (10320891)
1998
43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. (8988175)
1997
44
Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. (8188091)
1994
45
Peutz-Jeghers syndrome in association with adenoma malignum (minimal deviation adenocarcinoma) of the cervix. Case report. (2804013)
1989
46
Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases. (3739431)
1986
47
Peutz-Jeghers syndrome: clinical presentation and new therapeutic strategy. (4006869)
1985
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Peutz-Jeghers Syndrome:

64
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

Clinvar genetic disease variations for Peutz-Jeghers Syndrome:

1 (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 variantBenign, Pathogenicrs59912467GRCh37Chr 19, 1223125: 1223125

Expression for genes affiliated with Peutz-Jeghers Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 51PharmGKB, 54R&D Systems, 53QIAGEN, 12EMD Millipore, 5Cell Signaling Technology
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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
19.6STK11, PRKAA2
2
Show member pathways
9.6STK11, PRKAA2
3
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
9.6STK11, PRKAA2
49.6STK11, PRKAA2
5
Show member pathways
9.6STK11, PRKAA2
69.4TSC1, TSC2
79.4TSC2, TSC1
8
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.4TSC1, TSC2
99.4TSC2, TSC1
10
Show member pathways
mTOR signaling pathway38
9.4TSC2, TSC1
119.1TSC2, SMARCA4
129.1STK11, PRKAA2, TSC2
139.1TSC2, TSC1, STK11
14
Show member pathways
9.0PRKAA2, TSC1, TSC2
159.0TSC2, TSC1, PRKAA2
16
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.6TSC1, TSC2, SMARCA4
178.6TSC1, TSC2, SMARCA4
18
Show member pathways
8.6TSC2, TSC1, PRKAA2, STK11
198.6TSC2, TSC1, PRKAA2, STK11
208.6TSC2, TSC1, PRKAA2, STK11
21
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.6STK11, PRKAA2, TSC1, TSC2
22
Show member pathways
8.6TSC2, TSC1, PRKAA2, STK11
23
Show member pathways
8.6TSC2, TSC1, PRKAA2, STK11
24
Show member pathways
8.6TSC2, TSC1, PRKAA2, STK11
258.2STK11, TSC1, TSC2, SMARCA4
26
Show member pathways
7.8STK11, PRKAA2, TSC1, TSC2, SMARCA4

Compounds for genes affiliated with Peutz-Jeghers Syndrome

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1phenformin45 1111.0PRKAA2, STK11
2acadesine4510.0STK11, PRKAA2
3aicar45 24 1111.9STK11, PRKAA2
42-deoxyglucose45 1110.8STK11, PRKAA2
5metformin45 51 1111.8PRKAA2, STK11
6everolimus45 51 1111.7TSC1, TSC2
7guanosine45 24 1111.5TSC2, TSC1
8fatty acid459.5INHA, PRKAA2, STK11
9androstane459.5SMARCA4, PRKAA2
10adenylate459.3STK11, PRKAA2, TSC2
11phosphoinositide459.3TSC2, TSC1, PRKAA2
12alanine459.0INHA, TSC1, PRKAA2, STK11
13paraffin459.0STK11, TSC1, TSC2, INHA
14rapamycin459.0STK11, PRKAA2, TSC1, TSC2
15phosphatidylinositol459.0PRKAA2, TSC1, TSC2
16glycogen45 2410.0TSC2, TSC1, PRKAA2, STK11
17vegf458.9STK11, PRKAA2, TSC1, TSC2
18cyclic amp45 249.9STK11, SMARCA4, INHA
19threonine458.9TSC2, TSC1, PRKAA2, STK11
20testosterone45 61 24 1111.6TSC2, SMARCA4, INHA
21serine458.6TSC2, TSC1, PRKAA2, STK11
22atp45 299.6STK11, PRKAA2, TSC2, SMARCA4
23estrogen458.6INHA, SMARCA4, TSC2, PRKAA2
24lipid458.5STK11, PRKAA2, TSC2, SMARCA4
25steroid458.4INHA, SMARCA4, TSC2
26glucose458.1SMARCA4, TSC2, TSC1, PRKAA2, STK11
27tyrosine458.1INHA, SMARCA4, TSC2, TSC1, PRKAA2

GO Terms for genes affiliated with Peutz-Jeghers Syndrome

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16Gene Ontology
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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:0055248.1STK11, PRKAA2, PMS1, SMARCA4
4protein bindingGO:0055157.1INHA, SMARCA4, TSC2, TSC1, PRKAA2, STK11

Products for genes affiliated with Peutz-Jeghers Syndrome

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Sources for Peutz-Jeghers Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet