PJS
MCID: PTZ001
MIFTS: 73

Peutz-Jeghers Syndrome (PJS) malady

Eye, Gastrointestinal, Skin, Fetal, Cancer categories

Summaries for Peutz-Jeghers Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 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 abnormal pigmentation of the oral mucosa/gingivae, pigmented naevi/naevus pigmentosus/lentigo and intestinal/colonic anomaly. 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 heart, small intestine and colon, 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:64 Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal... more...

Description from OMIM:47 175200

GeneReviews summary for pjs

Aliases & Classifications for Peutz-Jeghers Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Eye, Gastrointestinal, Skin


Characteristics (Orphanet epidemiological data):

49
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

peutz-jeghers syndrome 8 9 64 19 21 47 10 45 49 61
pjs 64 19 43 21 49
polyposis, hamartomatous intestinal 64 43 21
periorificial lentiginosis syndrome 64 43 21
peutz jeghers syndrome 43 20 22
lentiginosis, perioral 64 43 21
polyposis, intestinal, ii 64 21
polyps-and-spots syndrome 64 21
peutz-jeghers polyposis 43 21
intestinal polyposis - cutaneous pigmentation syndrome 49
intestinal polyposis-cutaneous pigmentation syndrome 21
peutz-jeghers polyp of small intestine 8
peutz-jeghers small bowel hamartoma 8
hamartomatous intestinal polyposis 49
colonic hamartomatous polyps 61
colonic hamartomatous polyp 8
gastric peutz-jeghers polyp 8
peutz jeghers colon polyp 8
peutz jeghers polyp 8


External Ids:

Disease Ontology8 DOID:3852
OMIM47 175200
NCIt40 C3324
MeSH35 D010580
MESH via Orphanet36 D010580
ICD10 via Orphanet26 Q85.8
SNOMED-CT via Orphanet58 54411001
UMLS via Orphanet62 C0031269

Related Diseases for Peutz-Jeghers Syndrome

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 169)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma31.4CTNNB1, STK11, PTEN, INHA, SMARCA4, BLZF1
2adenoma31.3SMARCA4, TSC1, INHA, CNC, VHL, APC
3sertoli cell tumor31.1INHA, CYP19A1
4gynecomastia31.0INHA, CYP19A1, BRCA2
5carney complex30.8PRKAR1A
6bilateral breast cancer30.8BRCA2
7juvenile polyposis syndrome30.7APC, STK11, PTEN
8familial adenomatous polyposis30.7PMS1, VHL, CTNNB1, APC, STK11
9colorectal cancer30.5PMS1, APC, CTNNB1, STK11, PTEN
10cowden disease30.5TSC2, BRCA2, TSC1, PTEN, CDKN3, CNC
11tuberous sclerosis complex30.3TSC1, TSC2
12adrenocortical carcinoma30.3CTNNB1, PRKAR1A
13multiple endocrine neoplasia30.3CNC, PRKAR1A, BRCA2, VHL
14familial colorectal cancer30.3VHL, BRCA2, PTEN, APC
15neurofibromatosis30.3TSC1, BRCA2, VHL, BLZF1, TSC2
16tuberous sclerosis30.3TSC2, TSC1, PTEN, CDKN3, PRKAA2, VHL
17thyroid cancer30.3PTEN, PRKAR1A, APC, CDKN3
18paraganglioma30.3VHL
19squamous cell carcinoma30.3APC, CTNNB1, BLZF1, KLK10, INHA, PTEN
20peutz–jeghers syndrome11.6
21intussusception11.0
22n syndrome10.9
23char syndrome10.6
24image syndrome10.6
25cervical adenoma malignum10.5
26young syndrome10.5
27angiolipoma10.4
28deficiency anemia10.4
29gonadoblastoma10.4
30ovarian gonadoblastoma10.4
31iron deficiency anemia10.4
32adult syndrome10.4
33precocious puberty10.4
34gastric outlet obstruction10.4
35acute pancreatitis10.2
36intraductal papilloma10.2
37neuroendocrine carcinoma10.2
38rectum malignant melanoma10.2
39obstructive jaundice10.2
40trilateral retinoblastoma10.2
41papillary carcinoma10.2
42sickle cell anemia10.2
43cronkhite-canada syndrome10.2
44retinitis pigmentosa10.2
45rectal prolapse10.2
46synchronous bilateral breast carcinoma10.2
47protein-losing enteropathy10.2
48epithelioid leiomyosarcoma10.2
49gastrointestinal adenoma10.2
50mucinous adenocarcinoma10.2

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



Diseases related to peutz-jeghers syndrome

Clinical Features for Peutz-Jeghers Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

175200

Clinical synopsis from OMIM:

175200

Symptoms:

49 (show all 12)
  • abnormal pigmentation of the oral mucosa/gingivae
  • 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

Drugs & Therapeutics for Peutz-Jeghers Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

33
Heart, Small intestine, Colon, Liver, Lung, Pancreas, Thyroid, Breast, Skin, Ovary, Testis, Cervix, B cells, Appendix, Testis leydig

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

37 (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

Sources:
51PubMed
See all sources

Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance. (23240097)
2013
2
Obstructing hamartomatous polyp in peutz-jeghers syndrome. (23607033)
2013
3
Minimal deviation adenocarcinoma of the cervix and tumorlets of sex-cord stromal tumor with annular tubules of the ovary in Peutz-Jeghers syndrome. (23346318)
2013
4
Acute malignant intestinal obstruction accompanied by synchronous multifocal intestinal cancer in Peutz-Jeghers syndrome: report of a case. (22434556)
2012
5
Contribution of capsule endoscopy to Peutz-Jeghers syndrome management in children. (22795616)
2012
6
Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. (21086168)
2011
7
High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome. (21205875)
2011
8
Peutz-Jeghers syndrome. (22224349)
2011
9
LKB1/ STK11, Peutz-Jeghers syndrome and cancer. Introduction. (21874563)
2011
10
Identification of a novel de novo STK11 mutation in a Chinese child with Peutz-Jeghers syndrome. (22118009)
2011
11
Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. (20428811)
2010
12
Peutz-Jeghers syndrome: data from the Singapore Polyposis Registry and a shifting paradigm in management. (20126809)
2010
13
Peutz-Jeghers syndrome: a systematic review and recommendations for management. (20581245)
2010
14
Quality of life and psychological distress in patients with Peutz-Jeghers syndrome. (20695872)
2010
15
Peutz-Jeghers syndrome: diagnostic and therapeutic approach. (19916169)
2009
16
Peutz-Jeghers syndrome diagnosed in a schizophrenic patient with a large deletion in the STK11 gene. (16927138)
2006
17
Video capsule endoscopy in peutz-jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps. (16680639)
2006
18
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. (16287113)
2005
19
Minimally invasive diagnosis of Peutz-Jeghers syndrome. (15181624)
2004
20
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
21
Peutz-Jeghers syndrome in children: high recurrence rate in short-term follow-up. (14530109)
2003
22
Acute abdomen in a 15-year-old patient with Peutz-Jeghers syndrome. Surgical approach. (12692504)
2003
23
Identification and characterization of four novel phosphorylation sites (Ser31, Ser325, Thr336 and Thr366) on LKB1/STK11, the protein kinase mutated in Peutz-Jeghers cancer syndrome. (11853558)
2002
24
Peutz-Jeghers syndrome associated with intestinal intussusception: a case report. (12575811)
2002
25
LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1. (11741830)
2001
26
Genetic heterogeneity in Peutz-Jeghers syndrome. (10874301)
2000
27
Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. (10689645)
2000
28
Peutz-Jeghers syndrome: association with cancer and surgical management. (17264634)
2000
29
Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature. Deutsche Peutz-Jeghers-Studiengruppe. (10855556)
2000
30
Intussusception in Peutz-Jeghers syndrome: sonographic findings. (10390553)
1999
31
The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase. (10400995)
1999
32
Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. (9934767)
1999
33
Peutz-Jeghers syndrome. (7712638)
1995
34
Appendiceal intussusception due to an appendiceal malignant polyp--an association in a patient with Peutz-Jeghers syndrome: report of a case. (8555705)
1995
35
Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. (8188091)
1994
36
Bilateral asynchronous Sertoli cell tumor in a boy with the Peutz-Jeghers syndrome. (8072115)
1994
37
Peutz-Jeghers syndrome. (1645025)
1992
38
The Peutz-Jeghers syndrome. Case reports. (1807398)
1991
39
Peutz-Jeghers syndrome: an increased risk of neoplasia. (3566569)
1986
40
Combined endoscopic and surgical treatment in Peutz-Jeghers syndrome. (3704894)
1986
41
Peutz-Jeghers syndrome: clinical presentation and new therapeutic strategy. (4006869)
1985
42
Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome (histologic and ultrastructural study). (4049541)
1985
43
Peutz-Jeghers syndrome. (3869001)
1985
44
Peutz-Jeghers syndrome in children: report of two cases and review of the literature. (6834218)
1983
45
Jejunal endoscopic polypectomy in the Peutz-Jeghers syndrome. (6884286)
1983
46
A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the Peutz-Jeghers syndrome. (6837833)
1983
47
Peutz-Jeghers syndrome. (7436458)
1980
48
Peutz-Jeghers syndrome with "adenoma malignum" of the cervix. A report of two cases. (7461479)
1980
49
Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family. (428830)
1979
50
Pelvic neoplasia in Peutz-Jeghers syndrome. (263151)
1979

Genetic Variations for Peutz-Jeghers Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Peutz-Jeghers Syndrome:

63
id Symbol AA change Variation 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

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

Sources:
54Reactome, 12EMD Millipore, 52QIAGEN, 4Cell Signaling Technology, 53R&D Systems, 38NCBI BioSystems Database, 30KEGG
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
10.3STK11, 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
Hide members
10.3PTEN, CTNNB1, TSC2
11
Hide members
10.2PRKAA2, TSC2, TSC1, STK11
12
Hide members
10.2TSC2, TSC1, PRKAA2, STK11
1310.2TSC1, TSC2, STK11, PRKAA2
1410.2TSC2, PTEN, PRKAA2, STK11
1510.2TSC2, PRKAA2, PTEN, TSC1
16
Hide members
10.2PTEN, TSC2, SMARCA4, TSC1
1710.2STK11, TSC2, TSC1, STK11IP
1810.2CTNNB1, APC, PRKAA2, TSC2
1910.2SMARCA4, TSC2, APC, PTEN
20
Hide members
10.2TSC2, CTNNB1, APC, PTEN
2110.2STK11, PTEN, TSC1, TSC2, PRKAA2
2210.1PTEN, TSC1, TSC2, APC, CTNNB1
23
Hide members
10.1CTNNB1, PTEN, TSC1, TSC2, BRCA2
2410.1STK11, PRKAR1A, PRKAA2, TSC1, TSC2, SMARCA4
25
Hide members
10.1VHL, APC, CTNNB1, PRKAR1A, PTEN
26
Translation Insulin regulation of translation
Hide members
10.1TSC2, 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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 24HMDB, 29IUPHAR, 2BitterDB
See all sources

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

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.8BRCA2
2methylazoxymethanol acetate4510.7APC, CTNNB1
31-hydroxyanthraquinone4510.7CTNNB1, APC
4forskolin45 50 1112.6PRKAR1A, PRKAA2
5samp4510.6CTNNB1, APC
6indole-3-carbinol4510.6PTEN, CYP19A1, CTNNB1, BRCA2
7bicalutamide45 60 1112.6PTEN, CYP19A1, CDKN3, CTNNB1
8guanosine45 11 2412.5BLZF1, TSC2, TSC1, APC
91,2-dimethylhydrazine4510.5CTNNB1, APC
10cetuximab45 50 1112.5CDKN3, CTNNB1, PTEN
11trastuzumab45 50 1112.5PTEN, CYP19A1, CDKN3, CTNNB1
12crcs4510.5PTEN, CTNNB1, APC
13gefitinib45 50 1112.5CYP19A1, CTNNB1, CDKN3, PTEN
145-aza-2deoxycytidine4510.5APC, CTNNB1, VHL, PMS1, PTEN, STK11
15vitamin d4510.4APC, CTNNB1, PRKAR1A, CYP19A1, PTEN
16glucose4510.4SMARCA4, TSC2, TSC1, BLZF1, STK11, APC
17wortmannin4510.4CDKN3, APC, PRKAA2, PTEN, CTNNB1, TSC2
18thapsigargin45 6011.4CYP19A1, BLZF1, PRKAA2, CDKN3
19fatty acid4510.4PRKAA2, BLZF1, APC, CTNNB1, PTEN, INHA
20ly2940024510.4VHL, CTNNB1, CDKN3, TSC2, PTEN
21phosphoinositide4510.4TSC2, TSC1, PTEN, PRKAA2, CTNNB1, APC
22cyclic amp45 2411.4CNC, PTEN, INHA, SMARCA4, PRKAR1A, APC
23pyruvate4510.4BLZF1, PRKAA2, CTNNB1, APC
24adenylate4510.4PRKAA2, STK11, APC, PRKAR1A, BLZF1, CDKN3
25metformin45 50 1112.3CYP19A1, STK11, PRKAA2
26paraffin4510.3STK11, BRCA2, INHA, PTEN, TSC1, TSC2
27genistein45 29 60 2 11 2415.3PTEN, CYP19A1, BRCA2, CDKN3, BLZF1, CTNNB1
28azoxymethane4510.3APC, CTNNB1
29oligonucleotide4510.3APC, VHL, SMARCA4, PTEN, INHA, CTNNB1
30vegf4510.3PRKAA2, CTNNB1, PTEN, TSC2, CDKN3, TSC1
31steroid4510.3PRKAR1A, CYP19A1, INHA, TSC2, SMARCA4, BLZF1
32arginine4510.3CTNNB1, BLZF1, PRKAR1A, CYP19A1, PTEN, TSC2
33oxygen45 2411.3VHL, STK11, PRKAA2, CYP19A1, PTEN, BLZF1
34okadaic acid45 6011.3TSC2, PTEN, CDKN3, BLZF1
35progesterone45 60 29 11 2414.3INHA, PTEN, BLZF1, CTNNB1, CYP19A1, BRCA2
36rapamycin4510.3STK11, VHL, APC, CTNNB1, PTEN, PRKAA2
37glycogen45 2411.3CTNNB1, APC, PRKAA2, CDKN3, PTEN, TSC1
38atp45 2911.3CTNNB1, TSC2, PTEN, CDKN3, BLZF1, PRKAA2
39cisplatin45 50 60 1113.2CDKN3, BLZF1, CTNNB1, BRCA2, PTEN
40alanine4510.2CDKN3, INHA, BLZF1, PRKAA2, STK11, KLK10
41retinoic acid45 2411.2PTEN, CDKN3, CYP19A1, BLZF1, CTNNB1, APC
42phosphatidylinositol4510.2PRKAA2, BLZF1, CTNNB1, APC, BRCA2, CDKN3
43testosterone45 60 11 2413.1CYP19A1, APC, CDKN3, BLZF1, CTNNB1, SMARCA4
44threonine4510.1STK11, PRKAA2, BLZF1, TSC2, CDKN3, PTEN
454-hydroxytamoxifen4510.1BRCA2, CTNNB1, CYP19A1
46lipid4510.1PRKAA2, APC, BLZF1, TSC2, SMARCA4, STK11
47tyrosine4510.1TSC2, CDKN3, TSC1, PTEN, VHL, INHA
48leucine4510.1PTEN, TSC2, PRKAA2, KLK10, BLZF1
49serine4510.1TSC2, KLK10, PTEN, TSC1, CDKN3, BLZF1
50phenformin45 1111.1PRKAA2, STK11

GO Terms for genes affiliated with Peutz-Jeghers Syndrome

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:03087710.3APC, 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Peutz-Jeghers Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet