PJS
MCID: PTZ001
MIFTS: 83

Peutz-Jeghers Syndrome (PJS) malady

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

Summaries for Peutz-Jeghers Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Peutz-Jeghers Syndrome, also known as PJS, is related to adenocarcinoma and adenoma, and has symptoms including pigmented naevi/naevus pigmentosus/lentigo, gallbladder/common bile duct anomalies and abnormal/polycystic ovaries. An important gene associated with Peutz-Jeghers Syndrome is STK11 (serine/threonine kinase 11), and among its related pathways are AMPK inhibits chREBP transcriptional activation activity and Inhibition of TSC complex formation by PKB. The compounds cycloheximide and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and skin, and related mouse phenotypes are endocrine/exocrine gland and pigmentation.

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:63 Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal... more...

Description from OMIM:46 175200

GeneReviews summary for pjs

Aliases & Classifications for Peutz-Jeghers Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

peutz-jeghers syndrome 8 9 63 19 21 46 10 44 48 60
pjs 63 19 42 21 48
polyposis, hamartomatous intestinal 63 42 21
periorificial lentiginosis syndrome 63 42 21
lentiginosis, perioral 63 42 21
peutz jeghers syndrome 42 20 22
polyposis, intestinal, ii 63 21
polyps-and-spots syndrome 63 21
peutz-jeghers polyposis 42 21
intestinal polyposis-cutaneous pigmentation syndrome 21
peutz-jeghers polyp of small intestine 8
peutz-jeghers small bowel hamartoma 8
hamartomatous intestinal polyposis 48
colonic hamartomatous polyps 60
colonic hamartomatous polyp 8
gastric peutz-jeghers polyp 8
polyps and spots syndrome 48
peutz jeghers colon polyp 8
peutz jeghers polyp 8


External Ids:

Disease Ontology8 DOID:3852
OMIM46 175200
NCIt39 C3324
MeSH34 D010580
MESH via Orphanet35 D010580
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet57 54411001
UMLS via Orphanet61 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 180)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.3CTNNB1, STK11, PTEN, INHA, SMARCA4, BLZF1
2adenoma31.2SMARCA4, TSC1, INHA, CNC, VHL, APC
3pancreatitis31.1BRCA2
4sertoli cell tumor31.1INHA, CYP19A1
5gynecomastia31.0INHA, CYP19A1, BRCA2
6breast cancer31.0CYP19A1, CTNNB1, APC, BRCA2
7pancreatic cancer30.8INHA, CTNNB1, BRCA2
8carney complex30.7PRKAR1A
9bilateral breast cancer30.7BRCA2
10juvenile polyposis syndrome30.6APC, STK11, PTEN
11familial adenomatous polyposis30.6PMS1, VHL, CTNNB1, APC, STK11
12colon cancer30.6STK11, CTNNB1, CDKN3, PTEN, APC, BRCA2
13cervical cancer30.5STK11
14colorectal cancer30.5PMS1, APC, CTNNB1, STK11, PTEN
15ovarian cancer30.5KLK10, PTEN, VHL, BRCA2, CTNNB1, STK11
16melanoma30.5SMARCA4, TSC2, BLZF1, STK11, CTNNB1, PTEN
17von hippel-lindau disease30.3VHL, INHA, TSC2
18adrenocortical carcinoma30.3CTNNB1, PRKAR1A
19papilloma30.3STK11, CDKN3
20endometrial carcinoma30.3PTEN, INHA, CTNNB1
21neurofibromatosis30.3TSC1, BRCA2, VHL, BLZF1, TSC2
22papillary thyroid carcinoma30.3CTNNB1, PTEN, APC
23cowden disease30.3TSC2, BRCA2, TSC1, PTEN, CDKN3, CNC
24tuberous sclerosis30.3TSC2, TSC1, PTEN, CDKN3, PRKAA2, VHL
25retinoblastoma30.3SMARCA4, CDKN3, VHL, APC, BRCA2, PMS1
26thyroid cancer30.3PTEN, PRKAR1A, APC, CDKN3
27paraganglioma30.3VHL
28squamous cell carcinoma30.3APC, CTNNB1, BLZF1, KLK10, INHA, PTEN
29intussusception11.0
30cervicitis10.7
31image syndrome10.6
32duodenitis10.6
33cervical adenoma malignum10.5
34colon adenocarcinoma10.5
35gastric adenocarcinoma10.5
36thyroiditis10.5
37endocervicitis10.4
38gastroduodenitis10.4
39angiolipoma10.4
40deficiency anemia10.4
41gonadoblastoma10.4
42ovarian gonadoblastoma10.4
43iron deficiency anemia10.4
44adult syndrome10.4
45cervical adenocarcinoma10.4
46cystadenocarcinoma10.4
47hepatitis10.4
48intestinal obstruction10.4
49peutz–jeghers syndrome10.3
50acute pancreatitis10.2

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



Diseases related to peutz-jeghers syndrome

Clinical Features for Peutz-Jeghers Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

175200

Clinical synopsis from OMIM:

175200

Symptoms:

48 (show all 12)
  • pigmented naevi/naevus pigmentosus/lentigo
  • gallbladder/common bile duct anomalies
  • abnormal/polycystic ovaries
  • polycystic kidneys
  • neoplasms/tumors
  • intestinal/colonic anomaly
  • bladder and ureter anomalies
  • structural anomalies of the respiratory system and diaphragm
  • abnormal pigmentation of the oral mucosa/gingivae
  • anomalies of nose and olfaction
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • autosomal dominant inheritance

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Peutz-Jeghers Syndrome

Drug clinical trials:

Search ClinicalTrials for Peutz-Jeghers Syndrome

Search NIH Clinical Center for Peutz-Jeghers Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

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

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.6BRCA2, INHA, PRKAA2
2MP:000118610.5PRKAR1A
3MP:000537110.5SMARCA4, BRCA2
4MP:000536710.4TSC2, PRKAA2, STK11, APC, TSC1, VHL
5MP:000538010.3VHL, IFITM1, APC, PRKAR1A, TSC2, SMARCA4
6MP:000537610.3BRCA2, PRKAR1A, PRKAA2, TSC1, TSC2, SMARCA4
7MP:001077110.2STK11, BRCA2, CTNNB1, SMARCA4, TSC2, TSC1
8MP:000363110.1TSC1, CYP19A1, PRKAA2, APC, SMARCA4
9MP:000538910.1TSC1, TSC2, APC, INHA, BRCA2, PTEN
10MP:000537510.1PTEN, CYP19A1, PRKAA2, PRKAR1A, APC
11MP:000538110.1SMARCA4, PTEN, INHA, PRKAR1A, STK11, CTNNB1
12MP:000536910.1VHL, APC, SMARCA4, TSC1, PTEN, CYP19A1
13MP:000537010.0SMARCA4, IFITM1, APC, CTNNB1, CYP19A1, INHA
14MP:000287310.0VHL, TSC2, PTEN, INHA, CYP19A1, PRKAR1A
15MP:000200610.0PRKAR1A, SMARCA4, TSC2, TSC1, PTEN, INHA
16MP:000538510.0APC, TSC2, TSC1, PTEN, INHA, CYP19A1
17MP:000539010.0TSC1, VHL, IFITM1, PTEN, INHA, CYP19A1
18MP:00053979.9TSC2, PRKAR1A, SMARCA4, VHL, STK11, INHA
19MP:00053869.8PRKAA2, TSC2, TSC1, PTEN, CYP19A1, STK11
20MP:00053849.8PRKAR1A, VHL, BRCA2, TSC2, SMARCA4, APC
21MP:00053879.8VHL, BRCA2, PRKAR1A, IFITM1, APC, CTNNB1
22MP:00053789.8CTNNB1, VHL, BRCA2, APC, STK11, TSC2
23MP:00053829.7PTEN, PRKAR1A, CTNNB1, APC, VHL, STK11
24MP:00107689.6INHA, PTEN, TSC1, SMARCA4, PRKAR1A, STK11

Publications for Peutz-Jeghers Syndrome

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50PubMed
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Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 507)
idTitleAuthorsYear
1
Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: clinical and surgical management. (23968963)
2013
2
Management of prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: from aromatase inhibitors to subcutaneous mastectomy. (23860822)
2013
3
High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome. (23718779)
2013
4
Cancer problem in Peutz-Jeghers syndrome. (23977663)
2013
5
Overexpression of Aromatase Associated With Loss of Heterozygosity of the STK11 Gene Accounts for Prepubertal Gynecomastia in Boys with Peutz-Jeghers Syndrome. (24037887)
2013
6
Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management. (23515270)
2013
7
Case of Peutz-Jeghers syndrome with depressed-type early duodenal carcinoma. (23078458)
2012
8
One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome. (22928647)
2012
9
Lobular endocervical glandular hyperplasia in a woman with Peutz-Jeghers syndrome: a case report. (22019584)
2012
10
Papillary thyroid carcinoma in Peutz-Jeghers syndrome. (21877933)
2011
11
Multiple intestinal intussusceptions in Peutz-Jeghers' syndrome: a case report. (20306920)
2010
12
Clinical and genetic analysis of Peutz-Jeghers syndrome patients in Taiwan. (20497868)
2010
13
Expression of the proteins associated with transforming growth factor-beta/Smad signaling pathway in Peutz-Jeghers syndrome]. (20423848)
2010
14
Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. (20393878)
2010
15
A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome. (20566803)
2010
16
Successful management of intussusception with total polyp clearance in Peutz-Jeghers syndrome using a combined endoscopic and surgical approach. (21686715)
2009
17
Q-switched alexandrite laser treatment of oral labial lentigines in Chinese subjects with Peutz-Jeghers syndrome. (19438690)
2009
18
Expression and significance of interferon-inducible transmembrane protein-1 gene in Peutz-Jeghers syndrome]. (19304549)
2009
19
A novel de novo mutation in the serine-threonine kinase STK11 gene in a Korean patient with Peutz-Jeghers syndrome. (18495044)
2008
20
Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome. (18846624)
2008
21
Peutz-Jeghers syndrome. (17707154)
2007
22
Peutz-Jeghers syndrome: clinicopathology and molecular alterations. (16952058)
2006
23
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991310)
2005
24
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991322)
2005
25
Germline mutation of the LKB1/STK11 gene with loss of the normal allele in an aggressive breast cancer of Peutz-Jeghers syndrome. (15714005)
2004
26
Synchronous colon and pancreatic cancers in a patient with Peutz-Jeghers syndrome: report of a case and review of the literature. (14976486)
2004
27
Small-bowel polyps in Peutz-Jeghers syndrome: diagnosis by wireless capsule endoscopy. (15520933)
2004
28
An unusual admixture of neoplastic and metaplastic lesions of the female genital tract in the Peutz-Jeghers Syndrome. (14751181)
2004
29
Radiological work-up in Peutz-Jeghers syndrome. (14508616)
2003
30
Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome. (12650805)
2003
31
Laparoscopic treatment of intestinal intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. (12960794)
2003
32
Ovarian tumors associated with multiple endocrine neoplasias and related syndromes (Carney complex, Peutz-Jeghers syndrome, von Hippel-Lindau disease, Cowden's disease). (12144681)
2002
33
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
34
Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients. (10780518)
2000
35
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
36
Sertoli cell tumor causing precocious puberty in a girl with Peutz-Jeghers syndrome. (9790799)
1998
37
STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. (9809980)
1998
38
Malignancy in Peutz-Jeghers syndrome? The pitfall of pseudo-invasion. (9412930)
1997
39
Carcinoma in situ arising in a gastric hamartomatous polyp in a patient with Peutz-Jeghers syndrome. (8739752)
1996
40
Polyposis: the Peutz-Jeghers syndrome. (8696771)
1996
41
Peutz-Jeghers syndrome associated with bilateral synchronous breast carcinoma in a 30-year-old woman. (7849171)
1994
42
Progression toward malignancy of hamartomas in a patient with Peutz-Jeghers syndrome: case report and literature review. (8199943)
1994
43
Images in Clinical Medicine: Peutz-Jeghers syndrome. (8350887)
1993
44
Peutz-Jeghers syndrome: CT and US demonstration of small bowel polyps. (1991602)
1991
45
Cancer and the Peutz-Jeghers syndrome. (2599445)
1989
46
Peutz-Jeghers syndrome with adenomas and adenocarcinomas in colonic polyps. (3789261)
1987
47
Testicular tumors with Peutz-Jeghers syndrome. (3697923)
1986
48
Extremely well-differentiated adenocarcinoma ("adenoma malignum") of the cervix in a patient with Peutz-Jeghers syndrome. (4055223)
1985
49
Adenomatous and carcinomatous changes in hamartomatous polyps of the small intestine (Peutz-Jeghers syndrome): report of a case and review of the literature. (7059931)
1982
50
Peutz-Jeghers syndrome with metastasizing carcinoma arising from a jejunal hamartoma. (499717)
1979

Genetic Variations for Peutz-Jeghers Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Peutz-Jeghers Syndrome:

62
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

Expression for genes affiliated with Peutz-Jeghers Syndrome

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1BioGPS, 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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53Reactome, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4PRKAA2, STK11
210.4TSC2, TSC1
3
Development Leptin signaling via PI3K-dependent pathway
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10.3STK11, PRKAR1A, PRKAA2
4
Hide members
10.3PRKAA2, PRKAR1A, STK11
5
Hide members
10.3STK11, PRKAR1A, PRKAA2
610.3PTEN, TSC1, TSC2
7
Hide members
10.3TSC1, TSC2, PTEN
810.3TSC2, TSC1, PTEN
910.3SMARCA4, APC, CTNNB1
10
Transcription Androgen Receptor nuclear signaling
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10.3PTEN, CTNNB1, TSC2
11
Hide members
10.2PRKAA2, TSC2, TSC1, STK11
12
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10.2TSC2, TSC1, PRKAA2, STK11
1310.2TSC1, TSC2, STK11, PRKAA2
1410.2TSC2, PTEN, PRKAA2, STK11
1510.2TSC2, PRKAA2, PTEN, TSC1
16
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10.2PTEN, TSC2, SMARCA4, TSC1
1710.2STK11, TSC2, TSC1, STK11IP
1810.2CTNNB1, APC, PRKAA2, TSC2
1910.2SMARCA4, TSC2, APC, PTEN
20
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10.2TSC2, CTNNB1, APC, PTEN
2110.2STK11, PTEN, TSC1, TSC2, PRKAA2
2210.1PTEN, TSC1, TSC2, APC, CTNNB1
23
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10.1CTNNB1, PTEN, TSC1, TSC2, BRCA2
2410.1STK11, PRKAR1A, PRKAA2, TSC1, TSC2, SMARCA4
25
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10.1VHL, APC, CTNNB1, PRKAR1A, PTEN
26
Translation Insulin regulation of translation
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10.1TSC2, TSC1, PRKAA2, PRKAR1A, STK11, PTEN
2710.1CTNNB1, BRCA2, VHL, APC, PTEN
28
Hide members
10.1TSC1, PRKAA2, APC, CTNNB1, PRKAR1A, TSC2
2910.0STK11, PTEN, PRKAA2, CTNNB1, APC, BRCA2
30
Hide members
9.9APC, CTNNB1, STK11, PRKAR1A, PRKAA2, PTEN
319.9SMARCA4, BRCA2, CTNNB1, TSC1, STK11, TSC2
32
Hide members
9.9APC, PRKAA2, CTNNB1, TSC2, TSC1, PTEN

Compounds for genes affiliated with Peutz-Jeghers Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 2BitterDB
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Compounds related to Peutz-Jeghers Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.8BRCA2
2methylazoxymethanol acetate4410.7APC, CTNNB1
31-hydroxyanthraquinone4410.7CTNNB1, APC
4forskolin44 49 1112.6PRKAR1A, PRKAA2
5samp4410.6CTNNB1, APC
6indole-3-carbinol4410.6PTEN, CYP19A1, CTNNB1, BRCA2
7bicalutamide44 59 1112.6PTEN, CYP19A1, CDKN3, CTNNB1
8guanosine44 11 2412.5BLZF1, TSC2, TSC1, APC
91,2-dimethylhydrazine4410.5CTNNB1, APC
10cetuximab44 49 1112.5CDKN3, CTNNB1, PTEN
11trastuzumab44 49 1112.5PTEN, CYP19A1, CDKN3, CTNNB1
12crcs4410.5PTEN, CTNNB1, APC
13gefitinib44 49 1112.5CYP19A1, CTNNB1, CDKN3, PTEN
145-aza-2deoxycytidine4410.5APC, CTNNB1, VHL, PMS1, PTEN, STK11
15vitamin d4410.4APC, CTNNB1, PRKAR1A, CYP19A1, PTEN
16glucose4410.4SMARCA4, TSC2, TSC1, BLZF1, STK11, APC
17wortmannin4410.4CDKN3, APC, PRKAA2, PTEN, CTNNB1, TSC2
18thapsigargin44 5911.4CYP19A1, BLZF1, PRKAA2, CDKN3
19fatty acid4410.4PRKAA2, BLZF1, APC, CTNNB1, PTEN, INHA
20ly2940024410.4VHL, CTNNB1, CDKN3, TSC2, PTEN
21phosphoinositide4410.4TSC2, TSC1, PTEN, PRKAA2, CTNNB1, APC
22cyclic amp44 2411.4CNC, PTEN, INHA, SMARCA4, PRKAR1A, APC
23pyruvate4410.4BLZF1, PRKAA2, CTNNB1, APC
24adenylate4410.4PRKAA2, STK11, APC, PRKAR1A, BLZF1, CDKN3
25metformin44 49 1112.3CYP19A1, STK11, PRKAA2
26paraffin4410.3STK11, BRCA2, INHA, PTEN, TSC1, TSC2
27genistein44 28 59 2 11 2415.3PTEN, CYP19A1, BRCA2, CDKN3, BLZF1, CTNNB1
28azoxymethane4410.3APC, CTNNB1
29oligonucleotide4410.3APC, VHL, SMARCA4, PTEN, INHA, CTNNB1
30vegf4410.3PRKAA2, CTNNB1, PTEN, TSC2, CDKN3, TSC1
31steroid4410.3PRKAR1A, CYP19A1, INHA, TSC2, SMARCA4, BLZF1
32arginine4410.3CTNNB1, BLZF1, PRKAR1A, CYP19A1, PTEN, TSC2
33oxygen44 2411.3VHL, STK11, PRKAA2, CYP19A1, PTEN, BLZF1
34okadaic acid44 5911.3TSC2, PTEN, CDKN3, BLZF1
35progesterone44 59 28 11 2414.3INHA, PTEN, BLZF1, CTNNB1, CYP19A1, BRCA2
36rapamycin4410.3STK11, VHL, APC, CTNNB1, PTEN, PRKAA2
37glycogen44 2411.3CTNNB1, APC, PRKAA2, CDKN3, PTEN, TSC1
38atp44 2811.3CTNNB1, TSC2, PTEN, CDKN3, BLZF1, PRKAA2
39cisplatin44 49 59 1113.2CDKN3, BLZF1, CTNNB1, BRCA2, PTEN
40alanine4410.2CDKN3, INHA, BLZF1, PRKAA2, STK11, KLK10
41retinoic acid44 2411.2PTEN, CDKN3, CYP19A1, BLZF1, CTNNB1, APC
42phosphatidylinositol4410.2PRKAA2, BLZF1, CTNNB1, APC, BRCA2, CDKN3
43testosterone44 59 11 2413.1CYP19A1, APC, CDKN3, BLZF1, CTNNB1, SMARCA4
44threonine4410.1STK11, PRKAA2, BLZF1, TSC2, CDKN3, PTEN
454-hydroxytamoxifen4410.1BRCA2, CTNNB1, CYP19A1
46lipid4410.1PRKAA2, APC, BLZF1, TSC2, SMARCA4, STK11
47tyrosine4410.1TSC2, CDKN3, TSC1, PTEN, VHL, INHA
48leucine4410.1PTEN, TSC2, PRKAA2, KLK10, BLZF1
49serine4410.1TSC2, KLK10, PTEN, TSC1, CDKN3, BLZF1
50phenformin44 1111.1PRKAA2, STK11

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:03359610.4TSC2, TSC1
2beta-catenin destruction complexGO:03087710.3APC, CTNNB1
3protein complexGO:04323410.1TSC1, PRKAR1A, STK11, BRCA2
4membraneGO:01602010.1TSC2, STK11, CTNNB1, VHL, CYP19A1, TSC1
5cytosolGO:0058299.6VHL, TSC1, PTEN, PRKAA2, PRKAR1A, STK11

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glial cell fate determinationGO:00740310.5SMARCA4, CTNNB1
2negative regulation of cell sizeGO:04579210.5TSC2, TSC1, PTEN
3negative regulation of TOR signaling cascadeGO:03200710.5TSC2, TSC1, PRKAA2
4protein heterooligomerizationGO:05129110.5CTNNB1, STK11, TSC1, TSC2
5negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:06077010.5APC, STK11
6canonical Wnt receptor signaling pathwayGO:06007010.4APC, CTNNB1, STK11, PTEN
7prostate gland growthGO:06073610.4CYP19A1, PTEN
8insulin receptor signaling pathwayGO:00828610.4STK11, PRKAA2, TSC1, TSC2
9regulation of fatty acid biosynthetic processGO:04230410.4STK11, PRKAA2
10energy reserve metabolic processGO:00611210.3PRKAA2, PRKAR1A, STK11
11cell cycle arrestGO:00705010.3APC, STK11, PRKAA2, CDKN3, INHA, TSC1
12protein stabilizationGO:05082110.2VHL, PTEN, TSC1
13negative regulation of cell proliferationGO:00828510.1TSC2, VHL, IFITM1, APC, CTNNB1, STK11
14negative regulation of phosphatidylinositol 3-kinase cascadeGO:01406710.0TSC2, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:01990110.1PTEN, STK11IP, CTNNB1, APC
2enzyme bindingGO:0198999.9VHL, CTNNB1, BLZF1, PTEN
3protein bindingGO:0055159.4SMARCA4, VHL, BRCA2, IFITM1, APC, CTNNB1

Products for genes affiliated with Peutz-Jeghers Syndrome

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Sources for Peutz-Jeghers Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet