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

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Peutz-Jeghers Syndrome:

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

Anatomical Context for Peutz-Jeghers Syndrome

About this section
Sources:
32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 507)
idTitleAuthorsYear
1
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. (23415580)
2013
2
Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome. (23463749)
2013
3
Hereditary gynecological tumors associated with Peutz-Jeghers syndrome (Review). (24179492)
2013
4
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
5
High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. (21330574)
2012
6
Elevation of WNT5A expression in polyp formation in Lkb1+/- mice and Peutz-Jeghers syndrome. (21341271)
2011
7
Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: two years' treatment with anastrozole and genetic study. (21335955)
2011
8
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome. (21376213)
2011
9
Functional consequence of the STK11 exon 7 duplication mutation identified in a Korean child with Peutz-Jeghers syndrome. (20686846)
2011
10
Nonsurgical management of small-bowel polyps in Peutz-Jeghers syndrome with extensive polypectomy by using double-balloon endoscopy. (21704992)
2011
11
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (20435009)
2010
12
Sporadic bilateral retinitis pigmentosa sine pigmento associated with atypical Peutz-Jeghers syndrome. (20379315)
2010
13
High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. (21118512)
2010
14
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
15
Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. (19908348)
2009
16
Jejunal carcinoma in a patient with Peutz-Jeghers syndrome. (20011172)
2009
17
Peutz-Jeghers syndrome with prominent palmoplantar pigmentation. (18388379)
2008
18
Laparoscopic management of small bowel intussusception in a 16-year-old with Peutz-Jeghers syndrome. (18765065)
2008
19
Peutz-Jeghers Syndrome with multiple genital tract tumors and breast cancer: a case report with a review of literatures. (16891826)
2006
20
Prograde and retrograde intussusception: A rarity in Peutz-Jeghers syndrome. (17061671)
2006
21
Utility of capsule endoscopy in Peutz-Jeghers syndrome. (15062389)
2004
22
Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. (15269641)
2004
23
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome. (14970844)
2004
24
A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. (14726968)
2003
25
Restoration of silenced Peutz-Jeghers syndrome gene, LKB1, induces apoptosis in pancreatic carcinoma cells. (14511408)
2003
26
Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. (12865922)
2003
27
Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. (12221036)
2002
28
Duodenal cancer in a patient with Peutz-Jeghers syndrome: molecular analysis. (12051537)
2002
29
Gastroduodenal intussusception due to Peutz-Jeghers syndrome in infancy. (11956792)
2002
30
CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. (11355940)
2001
31
Peutz-Jeghers syndrome: is family screening needed? (10955585)
2000
32
Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. (10441497)
1999
33
STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. (10517250)
1999
34
Rectal carcinoid tumor associated with the Peutz-Jeghers syndrome. (9773943)
1998
35
Mutated serine-threonine kinase gene (STK11) is the cause of Peutz-Jeghers syndrome]. (9795419)
1998
36
The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers syndrome. (9722953)
1998
37
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. (9399902)
1997
38
A poorly differentiated Sertoli-Leydig cell tumour associated with an ovarian sex cord tumour with annular tubules in a woman with Peutz-Jeghers syndrome. (7835846)
1994
39
Thyroid papillary adenocarcinoma in a woman with Peutz-Jeghers syndrome. (1421720)
1992
40
Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum. (1916514)
1991
41
Chromosome instability in cultured skin fibroblasts from patients with familial polyposis coli and Peutz-Jeghers' syndrome. (3019975)
1986
42
Evaluation of Peutz-Jeghers syndrome in a family. (4086330)
1985
43
Intraductal breast papilloma with squamous metaplasia in Peutz-Jeghers syndrome. (6500554)
1984
44
Hamartomatous polyps in Peutz-Jeghers syndrome. A light-, histochemical, and electron-microscopic study. (6660350)
1983
45
Peutz-Jeghers syndrome and bilateral breast carcinoma. (7093914)
1982
46
Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome. (7119958)
1982
47
Ultrastructural studies on pigmented macules of Peutz-Jeghers syndrome. (7035511)
1981
48
A family with Peutz-Jeghers syndrome and bilateral breast cancer. (7397644)
1980
49
Prevention of intussusception in Peutz-Jeghers syndrome. (467186)
1979
50
Peutz-Jeghers syndrome with intestinal carcinoma: report of the association in one family. (498026)
1979

Genetic Variations for Peutz-Jeghers Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG
See all sources

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
Hide members
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
Hide members
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
Hide members
10.2PTEN, TSC1, TSC2, SMARCA4
1710.2STK11, STK11IP, TSC1, TSC2
1810.2TSC2, PRKAA2, CTNNB1, APC
1910.2APC, PTEN, TSC2, SMARCA4
20
Hide members
10.2APC, CTNNB1, PTEN, TSC2
2110.2STK11, PRKAA2, PTEN, TSC1, TSC2
2210.1APC, CTNNB1, PTEN, TSC1, TSC2
23
Hide members
10.1BRCA2, CTNNB1, PTEN, TSC1, TSC2
2410.1STK11, PRKAR1A, PRKAA2, TSC1, TSC2, SMARCA4
25
Hide members
10.1VHL, APC, CTNNB1, PRKAR1A, PTEN
26
Translation Insulin regulation of translation
Hide members
10.1STK11, PRKAR1A, PRKAA2, PTEN, TSC1, TSC2
2710.1VHL, BRCA2, APC, CTNNB1, PTEN
28
Hide members
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

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 2BitterDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Peutz-Jeghers Syndrome

About this section
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