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, intestinal/colonic anomaly and autosomal dominant inheritance. 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
  • intestinal/colonic anomaly
  • autosomal dominant inheritance
  • anomalies of nose and olfaction
  • gallbladder/common bile duct anomalies
  • structural anomalies of the respiratory system and diaphragm
  • polycystic kidneys
  • bladder and ureter anomalies
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • abnormal/polycystic ovaries
  • neoplasms/tumors
  • abnormal pigmentation of the oral mucosa/gingivae

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, Lung, Liver, Testis, Pancreas, Appendix, Heart

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, PRKAA2, INHA
2MP:000118610.5PRKAR1A
3MP:000537110.5BRCA2, SMARCA4
4MP:000536710.4VHL, APC, STK11, PRKAA2, TSC1, TSC2
5MP:000538010.3VHL, IFITM1, APC, PRKAR1A, TSC1, TSC2
6MP:000537610.3BRCA2, IFITM1, PRKAR1A, PRKAA2, TSC1, TSC2
7MP:001077110.2BRCA2, APC, CTNNB1, STK11, PTEN, TSC1
8MP:000363110.1APC, PRKAA2, CYP19A1, TSC1, SMARCA4
9MP:000538910.1VHL, BRCA2, APC, CTNNB1, STK11, PRKAR1A
10MP:000537510.1PTEN, CYP19A1, PRKAA2, PRKAR1A, APC
11MP:000538110.1VHL, BRCA2, APC, CTNNB1, STK11, PRKAR1A
12MP:000536910.1VHL, APC, CTNNB1, STK11, PRKAR1A, PRKAA2
13MP:000537010.0CTNNB1, APC, IFITM1, VHL, STK11, CYP19A1
14MP:000287310.0VHL, BRCA2, APC, CTNNB1, STK11, PRKAR1A
15MP:000200610.0SMARCA4, PMS1, VHL, BRCA2, APC, CTNNB1
16MP:000538510.0VHL, APC, CTNNB1, STK11, PRKAR1A, CYP19A1
17MP:000539010.0APC, IFITM1, BRCA2, VHL, CTNNB1, PRKAR1A
18MP:00053979.9VHL, BRCA2, IFITM1, APC, CTNNB1, STK11
19MP:00053869.8BRCA2, IFITM1, APC, CTNNB1, STK11, PRKAA2
20MP:00053849.8STK11, CTNNB1, APC, BRCA2, VHL, PRKAR1A
21MP:00053879.8VHL, BRCA2, IFITM1, APC, CTNNB1, STK11
22MP:00053789.8STK11, CTNNB1, APC, BRCA2, VHL, PRKAR1A
23MP:00053829.7VHL, APC, CTNNB1, STK11, PRKAR1A, PTEN
24MP:00107689.6VHL, BRCA2, APC, CTNNB1, STK11, PRKAR1A

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
Unusual presentation of intussusception of the small bowel with peutz jeghers syndrome: report of a case. (24298508)
2013
2
Gastrointestinal cancers in a peutz-jeghers syndrome family: a case report. (24143323)
2013
3
Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. (21538021)
2012
4
Q-switched alexandrite laser treatment of facial and labial lentigines associated with Peutz-Jeghers syndrome. (23017172)
2012
5
Lobular endocervical glandular hyperplasia and peritoneal pigmentation associated with Peutz-Jeghers syndrome due to a germline mutation of STK11. (23038761)
2012
6
Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome. (22901935)
2012
7
Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome. (22942091)
2012
8
Small bowel endoscopy and Peutz-Jeghers syndrome. (22704569)
2012
9
Small bowel intussusception caused by a jejunal polyp in Peutz-Jeghers syndrome: a case treated with double balloon enteroscopy. (20658191)
2011
10
mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. (21189378)
2011
11
Endometrial carcinoma and ovarian sex cord tumor with annular tubules in a patient with history of Peutz-Jeghers syndrome and multiple malignancies. (21941977)
2011
12
LKB1/ STK11, Peutz-Jeghers syndrome and cancer. Introduction. (21874563)
2011
13
Case studies in the diagnosis and management of Peutz-Jeghers syndrome. (21503748)
2011
14
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. (19727776)
2010
15
Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management. (20126809)
2010
16
Peutz-Jeghers syndrome and duodeno-jejunal adenocarcinoma--therapeutic implications. (20082550)
2009
17
Peutz-Jeghers syndrome: diagnostic and therapeutic approach. (19916169)
2009
18
Dermoscopy of Peutz-Jeghers syndrome. (19522902)
2009
19
Breast cancer, ovarian gonadoblastoma and cervical cancer in a patient with Peutz-Jeghers Syndrome. (18193442)
2008
20
Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. (17924967)
2007
21
The utility of wireless capsule endoscopy, as compared with barium contrast study, in a case of Peutz-Jeghers syndrome. (17343087)
2006
22
Peutz-Jeghers syndrome diagnosed in a schizophrenic patient with a large deletion in the STK11 gene. (16927138)
2006
23
Laparoscopic treatment of intestinal intussusception in Peutz-Jeghers syndrome: case report and review of literature. (21302245)
2006
24
Peutz-Jeghers syndrome and management recommendations. (17162246)
2006
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
Surgical aspects of intussusception secondary to Peutz-Jeghers syndrome. (15910700)
2005
27
Treatment of mucocutaneous pigmentation in Peutz-Jeghers syndrome with potassium titanyl phosphate (KTP) laser. (16197396)
2005
28
Conservative management of sex cord tumors with annular tubules of the ovary in women with Peutz-Jeghers syndrome. (16282900)
2005
29
Mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in Peutz-Jeghers syndrome. (15756273)
2005
30
STRAD in Peutz-Jeghers syndrome and sporadic cancers. (16189157)
2005
31
Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome. (15228227)
2004
32
Wireless capsule endoscopy for evaluation of phenotypic expression of small-bowel polyps in patients with Peutz-Jeghers syndrome and in symptomatic first-degree relatives. (15578295)
2004
33
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
34
A case of Peutz-Jeghers syndrome associated with duodenal carcinoma and sickle cell anemia. (11922580)
2002
35
Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. (10689645)
2000
36
Peutz-Jeghers syndrome: association with cancer and surgical management. (17264634)
2000
37
The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase. (10400995)
1999
38
The role of laparoscopy in the management of intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. (9488564)
1998
39
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. (9425897)
1998
40
Increased risk for cancer in patients with the Peutz-Jeghers syndrome. (9634427)
1998
41
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. (9428765)
1998
42
Polyposis: the Peutz-Jeghers syndrome. (7489151)
1995
43
Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz-Jeghers syndrome: a case report. (7899185)
1994
44
Peutz-Jeghers syndrome. (1645025)
1992
45
Peutz-Jeghers syndrome with unusual features (a case report). (3585800)
1986
46
Pancreatic adenocarcinoma in a patient with Peutz-Jeghers syndrome--a case report and literature review. (3717125)
1986
47
Periocular pigmentation in the Peutz-Jeghers syndrome. (3728618)
1986
48
'Top and tail endoscopy' and follow-up in Peutz-Jeghers syndrome. (7075565)
1982
49
Peutz-Jeghers syndrome with feminizing sertoli cell tumor. (6770991)
1980
50
Peutz-Jeghers syndrome. (608986)
1977

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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10.3PRKAA2, PRKAR1A, STK11
4
Hide members
10.3PRKAA2, PRKAR1A, STK11
5
Hide members
10.3PRKAA2, PRKAR1A, STK11
610.3PTEN, TSC1, TSC2
7
Hide members
10.3TSC2, TSC1, PTEN
810.3TSC2, TSC1, PTEN
910.3APC, CTNNB1, SMARCA4
10
Transcription Androgen Receptor nuclear signaling
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10.3CTNNB1, PTEN, TSC2
11
Hide members
10.2STK11, PRKAA2, TSC1, TSC2
12
Hide members
10.2TSC2, TSC1, PRKAA2, STK11
1310.2TSC2, TSC1, PRKAA2, STK11
1410.2STK11, PRKAA2, PTEN, TSC2
1510.2PRKAA2, PTEN, TSC1, TSC2
16
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10.2PTEN, TSC1, TSC2, SMARCA4
1710.2STK11, STK11IP, TSC1, TSC2
1810.2TSC2, PRKAA2, CTNNB1, APC
1910.2APC, PTEN, TSC2, SMARCA4
20
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10.2APC, CTNNB1, PTEN, TSC2
2110.2STK11, PRKAA2, PTEN, TSC1, TSC2
2210.1APC, CTNNB1, PTEN, TSC1, TSC2
23
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10.1BRCA2, CTNNB1, PTEN, TSC1, TSC2
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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10.1STK11, PRKAR1A, PRKAA2, PTEN, TSC1, TSC2
2710.1VHL, BRCA2, APC, CTNNB1, PTEN
28
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10.1APC, CTNNB1, PRKAR1A, PRKAA2, TSC1, TSC2
2910.0BRCA2, APC, CTNNB1, STK11, PRKAA2, PTEN
30
Hide members
9.9APC, CTNNB1, STK11, PRKAR1A, PRKAA2, PTEN
319.9SMARCA4, BRCA2, CTNNB1, STK11, CYP19A1, PTEN
32
Hide members
9.9VHL, APC, CTNNB1, STK11, PRKAR1A, PRKAA2

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:03087710.3CTNNB1, APC
3protein complexGO:04323410.1BRCA2, STK11, PRKAR1A, TSC1
4membraneGO:01602010.1VHL, CTNNB1, STK11, CYP19A1, TSC1, TSC2
5cytosolGO:0058299.6VHL, APC, CTNNB1, STK11, PRKAR1A, PRKAA2

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