PJS
MCID: PTZ001
MIFTS: 70

Peutz-Jeghers Syndrome (PJS)

Categories: Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peutz-Jeghers Syndrome

MalaCards integrated aliases for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Pjs 56 24 52 25 58 73
Polyposis, Hamartomatous Intestinal 56 74 52 25
Polyps-and-Spots Syndrome 56 52 25 73
Periorificial Lentiginosis Syndrome 52 25
Lentiginosis, Perioral 52 25
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 25
Peutz-Jeghers Polyp of Small Intestine 12
Peutz-Jeghers Small Bowel Hamartoma 12
Peutz-Jeghers Polyps of Small Bowel 71
Hamartomatous Intestinal Polyposis 58
Intestinal Hamartomatous Polyposis 73
Peutz-Jeghers Polyp of the Stomach 71
Colonic Hamartomatous Polyp 12
Gastric Peutz-Jeghers Polyp 12
Peutz Jeghers Colon Polyp 12
Polyposis, Intestinal, Ii 25
Polyps and Spots Syndrome 58
Peutz Jeghers Polyposis 52
Peutz-Jeghers Polyposis 25
Peutz Jeghers Polyp 12
Peutz-Jeghers Polyp 17
Hamartomatous Polyp 71
Peutz Jehgers Polyp 71

Characteristics:

Orphanet epidemiological data:

58
peutz-jeghers syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
pigmented spots appear in infancy through childhood and fade in adulthood
spots occur in 95% of patients but can be absent


HPO:

31
peutz-jeghers syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance To date all reported individuals with pathogenic variants in stk11 have shown clinical manifestations.

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Peutz-Jeghers Syndrome

Genetics Home Reference : 25 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. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.

MalaCards based summary : Peutz-Jeghers Syndrome, also known as pjs, is related to cowden syndrome 1 and congenital heart defects, hamartomas of tongue, and polysyndactyly. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways/superpathways are mTOR signaling pathway and Adipocytokine signaling pathway. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and breast, and related phenotypes are multiple lentigines and gastrointestinal carcinoma

NIH Rare Diseases : 52 Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer . Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations ) in the STK11 gene and is inherited in an autosomal dominant manner. Management typically includes high-risk screening for associated polyps and cancers.

OMIM : 56 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms. (175200)

KEGG : 36 Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation.

UniProtKB/Swiss-Prot : 73 Peutz-Jeghers syndrome: An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer.

Wikipedia : 74 Peutz-Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized... more...

GeneReviews: NBK1266

Related Diseases for Peutz-Jeghers Syndrome

Diseases related to Peutz-Jeghers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 348)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.2 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.9 TSC2 TSC1 STK11 PTEN
3 polyposis, skin pigmentation, alopecia, and fingernail changes 31.2 STK11 SMAD4 PTEN
4 juvenile polyposis syndrome 31.1 STK11 SMAD4 PTEN APC
5 familial adenomatous polyposis 31.1 TP53 SMAD4 CTNNB1 APC
6 cholangiocarcinoma 31.1 TP53 SMAD4 CTNNB1 APC
7 cystadenoma 31.1 PTEN INHA GNAS
8 tuberous sclerosis 1 31.1 TSC2 TSC1 STK11 PTEN
9 lentigines 31.0 STK11 PRKAR1A CNC2
10 sertoli cell tumor 31.0 PRKAR1A INHA CYP19A1
11 cervical adenoma malignum 31.0 TP53 STK11 BRCA2
12 testicular germ cell tumor 30.9 TP53 STK11 PTEN
13 intrahepatic cholangiocarcinoma 30.9 TP53 SMAD4 PTEN CTNNB1 APC
14 villous adenoma 30.8 TP53 GNAS APC
15 ovarian cyst 30.8 GNAS CYP19A1 CNC2
16 colon adenocarcinoma 30.8 TP53 SMAD4 PTEN CTNNB1 APC
17 small intestine cancer 30.7 TP53 STK11 SMAD4 CTNNB1
18 intestinal benign neoplasm 30.7 TP53 SMAD4 PTEN CTNNB1 APC
19 tuberous sclerosis 30.7 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
20 endometrial adenocarcinoma 30.7 TP53 PTEN CTNNB1
21 endometrial hyperplasia 30.6 TP53 PTEN CYP19A1 CTNNB1
22 leydig cell tumor 30.6 INHA GNAS CYP19A1
23 adenocarcinoma 30.5 TP53 STK11 SMAD4 PTEN GNAS CTNNB1
24 bile duct cancer 30.5 TP53 SMAD4 PTEN CTNNB1
25 in situ carcinoma 30.5 TP53 PTEN CYP19A1 CTNNB1 BRCA2
26 adenoma 30.4 TSC1 TP53 SMAD4 PRKAR1A GNAS CTNNB1
27 gastric adenocarcinoma 30.4 TP53 SMAD4 PTEN PRKAA2 GNAS CTNNB1
28 gallbladder cancer 30.4 TP53 SMAD4 PTEN CTNNB1
29 colorectal adenoma 30.4 TP53 CTNNB1 APC
30 melanocytic nevus syndrome, congenital 30.3 STK11 PRKAR1A CNC2
31 carney complex variant 30.2 STK11 PRKAR1A GNAS CTNNB1 CNC2
32 squamous cell carcinoma 30.2 TP53 STK11 SMAD4 PTEN GNAS CTNNB1
33 sporadic breast cancer 30.2 TP53 PTEN CYP19A1 BRCA2
34 adrenal cortical carcinoma 30.1 TP53 PRKAR1A CTNNB1
35 melanoma, cutaneous malignant 1 30.0 TP53 STK11 PTEN CTNNB1 BRCA2
36 lung cancer susceptibility 3 30.0 TSC2 TP53 STK11 SMAD4 PTEN GNAS
37 pancreatic adenocarcinoma 30.0 TP53 SMAD4 PTEN GNAS CTNNB1 BRCA2
38 cervical cancer 30.0 TP53 STK11 SMAD4 PTEN GNAS CTNNB1
39 pancreatic ductal adenocarcinoma 29.9 TP53 SMAD4 PTEN CTNNB1 BRCA2
40 adrenocortical carcinoma, hereditary 29.9 TP53 PRKAR1A GNAS CTNNB1
41 li-fraumeni syndrome 29.8 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
42 mccune-albright syndrome 29.8 PRKAR1A GNAS CYP19A1 APC
43 breast ductal carcinoma 29.8 TP53 SMAD4 PTEN CYP19A1 CTNNB1 BRCA2
44 ovarian serous cystadenocarcinoma 29.7 TP53 SMAD4 PTEN GNAS CTNNB1 BRCA2
45 beckwith-wiedemann syndrome 29.6 TP53 PRKAR1A GNAS CTNNB1
46 lynch syndrome 29.6 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
47 endometrial cancer 29.5 TP53 SMAD4 PTEN INHA CYP19A1 CTNNB1
48 diabetes mellitus, noninsulin-dependent 29.5 TSC2 TSC1 TP53 STK11 PRKAA2 GNAS
49 esophageal cancer 29.3 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
50 cowden syndrome 28.5 TSC2 TSC1 TP53 STK11IP STK11 SMAD4

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



Diseases related to Peutz-Jeghers Syndrome

Symptoms & Phenotypes for Peutz-Jeghers Syndrome

Human phenotypes related to Peutz-Jeghers Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lentigines 58 31 hallmark (90%) Very frequent (99-80%) HP:0001003
2 gastrointestinal carcinoma 58 31 very rare (1%) Very frequent (99-80%) HP:0002672
3 abnormal pigmentation of the oral mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0100669
4 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
5 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
6 abnormality of the gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005264
7 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
8 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
9 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
10 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
11 rectal prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0002035
12 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
13 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
14 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
15 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
16 renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005584
17 pancreatic adenocarcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006725
18 enlarged polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0008675
19 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
20 neoplasm of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0012720
21 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
22 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
23 biliary tract neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100574
24 nasal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100582
25 melanonychia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100644
26 neoplasm of the rectum 58 31 occasional (7.5%) Occasional (29-5%) HP:0100743
27 esophageal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100751
28 neoplasm of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100833
29 hypermelanotic macule 31 HP:0001034
30 macule 58 Very frequent (99-80%)
31 neoplasm 58 Occasional (29-5%)
32 gynecomastia 31 HP:0000771
33 abnormality of the respiratory system 58 Occasional (29-5%)
34 abnormality of the nose 58 Occasional (29-5%)
35 abnormality of the gastrointestinal tract 58 Very frequent (99-80%)
36 hamartomatous polyposis 31 HP:0004390
37 intestinal bleeding 31 HP:0002584
38 biliary tract abnormality 31 HP:0001080
39 neoplasm of the pancreas 31 HP:0002894
40 uterine neoplasm 31 HP:0010784
41 ovarian cyst 31 HP:0000138
42 iron deficiency anemia 31 HP:0001891
43 clubbing 31 HP:0001217
44 clubbing of fingers 31 HP:0100759
45 intussusception 31 HP:0002576
46 precocious puberty with sertoli cell tumor 31 HP:0008204
47 bladder polyp 31 HP:0031261
48 oral melanotic macule 31 HP:0032451
49 labial melanotic macule 31 HP:0032454

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
rectal prolapse
intestinal bleeding
intussusception
hamartomatous polyps (stomach to rectum)
recurrent colicky abdominal pain

Hematology:
iron deficiency anemia

Endocrine Features:
precocious puberty with sertoli cell tumor

Head And Neck Nose:
nasal polyps

Respiratory Airways:
bronchial polyps

Abdomen Biliary Tract:
biliary tract polyps

Genitourinary Bladder:
bladder polyps

Neoplasia:
gastrointestinal carcinoma
lung
pancreatic cancer
breast cancer (ductal)
thyroid cancer
more
Skeletal Hands:
clubbing of fingers

Genitourinary Internal Genitalia Female:
ovarian cysts

Head And Neck Mouth:
hyperpigmented macules of lips
hyperpigmented macules of buccal mucosa

Chest Breasts:
gynecomastia with sertoli cell tumors

Genitourinary Ureters:
ureteral polyps

Skin Nails Hair Skin:
hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips

Clinical features from OMIM:

175200

GenomeRNAi Phenotypes related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.98 STK11IP
2 Decreased viability GR00221-A-1 9.98 MARK1 PRKAA2 PRKAR1A STK11IP
3 Decreased viability GR00221-A-2 9.98 MARK1 PRKAA2 PRKAR1A STK11IP TSC1
4 Decreased viability GR00221-A-3 9.98 PRKAA2 PRKAR1A TSC1
5 Decreased viability GR00221-A-4 9.98 PRKAA2 PRKAR1A
6 Decreased viability GR00249-S 9.98 PRKAA2 STK11IP
7 Decreased viability GR00301-A 9.98 TSC1
8 Decreased viability GR00342-S-1 9.98 PRKAA2
9 Decreased viability GR00402-S-2 9.98 MARK1 PRKAA2
10 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 APC BRCA2 GNAS SMAD4 TSC1 TSC2
11 Decreased sensitivity to paclitaxel GR00112-A-0 8.85 PTEN

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

45 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 APC BRCA2 CTNNB1 CYP19A1 GNAS PRKAA2
2 endocrine/exocrine gland MP:0005379 10.43 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
3 cellular MP:0005384 10.42 APC BRCA2 CTNNB1 CYP19A1 GNAS PRKAA2
4 growth/size/body region MP:0005378 10.42 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
5 cardiovascular system MP:0005385 10.4 APC CTNNB1 CYP19A1 GNAS INHA PRKAR1A
6 homeostasis/metabolism MP:0005376 10.39 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
7 hematopoietic system MP:0005397 10.37 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
8 immune system MP:0005387 10.31 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
9 digestive/alimentary MP:0005381 10.3 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAR1A
10 integument MP:0010771 10.3 APC BRCA2 CTNNB1 CYP19A1 GNAS PRKAR1A
11 embryo MP:0005380 10.29 APC BRCA2 CTNNB1 PRKAR1A PTEN SMAD4
12 mortality/aging MP:0010768 10.29 APC BRCA2 CTNNB1 GNAS INHA PRKAR1A
13 liver/biliary system MP:0005370 10.27 APC CTNNB1 CYP19A1 GNAS INHA PRKAR1A
14 neoplasm MP:0002006 10.21 APC BRCA2 CTNNB1 GNAS INHA PRKAR1A
15 muscle MP:0005369 10.2 APC CTNNB1 CYP19A1 GNAS PRKAA2 PRKAR1A
16 nervous system MP:0003631 10.18 APC BRCA2 CTNNB1 CYP19A1 GNAS PRKAA2
17 adipose tissue MP:0005375 10.17 APC CYP19A1 GNAS PRKAA2 PRKAR1A PTEN
18 craniofacial MP:0005382 10.15 APC CTNNB1 GNAS PRKAR1A SMAD4 STK11
19 normal MP:0002873 10.15 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA
20 limbs/digits/tail MP:0005371 10.05 APC BRCA2 CTNNB1 GNAS PTEN SMAD4
21 hearing/vestibular/ear MP:0005377 10.04 APC CTNNB1 CYP19A1 GNAS PRKAA2 TP53
22 renal/urinary system MP:0005367 10 APC CTNNB1 CYP19A1 GNAS PRKAA2 PTEN
23 reproductive system MP:0005389 9.93 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAR1A
24 pigmentation MP:0001186 9.87 APC CTNNB1 CYP19A1 PRKAR1A PTEN TP53
25 respiratory system MP:0005388 9.56 CTNNB1 GNAS MARK1 PRKAR1A PTEN STK11
26 skeleton MP:0005390 9.36 APC BRCA2 CTNNB1 CYP19A1 GNAS INHA

Drugs & Therapeutics for Peutz-Jeghers Syndrome

Drugs for Peutz-Jeghers Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3 Anti-Infective Agents Phase 4
4 Anti-Bacterial Agents Phase 4
5 Antifungal Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
9
Secretin Approved Phase 1, Phase 2 108153-74-8
10
Pancrelipase Approved, Investigational Phase 1, Phase 2 53608-75-6
11 Antineoplastic Agents, Immunological Phase 2
12 Immunosuppressive Agents Phase 2
13 Immunologic Factors Phase 2
14 Hormone Antagonists Phase 1, Phase 2
15 Hormones Phase 1, Phase 2
16 Gastrointestinal Agents Phase 1, Phase 2
17 pancreatin Phase 1, Phase 2
18 Cola
19
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome Recruiting NCT03781050 Phase 4 Rapamycin
2 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
3 Pilot Study of mTOR Inhibitor Therapy for Treatment of Intestinal Polyps in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus
4 Pilot Study Using Secretin and Iodinated Intravenous Contrast and 64-Channel CT in Patients at High Risk for Pancreatic Adenocarcinoma Terminated NCT00587132 Phase 1, Phase 2 Synthetic Human Secretin
5 Pilot Study of Everolimus in the Treatment of Neoplasms in Patients With Peutz-Jeghers Syndrome Withdrawn NCT01178151 Phase 2 Everolimus
6 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
7 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
8 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
9 Screening for Early Pancreatic Neoplasia Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
10 Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study) Completed NCT00714701
11 Artificial Intelligence-Assisted Real-time Detection of Missed Lesions During Colonoscopy: A Prospective Study Completed NCT04227795
12 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
13 Cold Snare Polypectomy vs Hot Snare Polypectomy vs APC for the Complete Removal of Left Sided Colon Polyps. A Prospective,Randomized Trial Completed NCT02479893
14 Molecular Typing and Precise Prevention and Treatment of Peutz-Jeghers Syndrome Recruiting NCT03806075
15 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
16 Italian Registry of Families At Risk of Pancreatic Cancer Recruiting NCT04095195
17 Observational Study to Analyze the Outcomes of Subjects Who - Based Upon Their Sufficiently Elevated Risk for the Development of Pancreatic Adenocarcinoma- Elect to Undergo Early Detection Testing Recruiting NCT02206360
18 Blue Laser Imaging Versus Narrow Band Imaging Versus White Light Imaging for Detection of Adenoma in the Proximal Colon: A Prospective Randomized Study Recruiting NCT03696992
19 Pancreas Disease and High Risk Registry Recruiting NCT02775461
20 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
21 Study of Survival and Description of Care for Patients With Degenerate Vaterian Ampulloma Recruiting NCT03800212 treatment for ampullary adenocarcinoma
22 Artificial Intelligence-assisted Colonoscopy Versus Conventional Colonoscopy for Missed Lesions in the Proximal Colon: A Prospective Multi-center Randomized Study in Asia Not yet recruiting NCT04294355
23 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Withdrawn NCT02309632

Search NIH Clinical Center for Peutz-Jeghers Syndrome

Cochrane evidence based reviews: peutz-jeghers syndrome

Genetic Tests for Peutz-Jeghers Syndrome

Genetic tests related to Peutz-Jeghers Syndrome:

# Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome 29 STK11

Anatomical Context for Peutz-Jeghers Syndrome

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

40
Colon, Small Intestine, Breast, Pancreas, Cervix, Eye, Ovary

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 1826)
# Title Authors PMID Year
1
De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. 61 56 6 24
15200509 2004
2
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 24 56 6 61
9428765 1998
3
A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer. 61 54 6 56
15617552 2005
4
Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity. 6 54 61 24
15800014 2005
5
Genotype-phenotype correlations in Peutz-Jeghers syndrome. 61 24 56 54
15121768 2004
6
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome. 24 61 56 54
14970844 2004
7
Peutz-Jeghers syndrome: 78-year follow-up of the original family. 6 56 61
10217080 1999
8
Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. 56 6 61
9850045 1998
9
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 61 6 56
9425897 1998
10
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 24 6 61
25645574 2015
11
Unregulated smooth-muscle myosin in human intestinal neoplasia. 61 24 56
18391202 2008
12
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 56 24 61
9837816 1998
13
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. 56 54 61
12438709 2002
14
Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. 56 54 61
11103790 2000
15
Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. 61 54 56
10689645 2000
16
Genetic heterogeneity in Peutz-Jeghers syndrome. 61 54 56
10874301 2000
17
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. 24 61 54
19727776 2010
18
A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. 24 61 54
17599048 2007
19
LKB1 gene mutations in Japanese lung cancer patients. 24 54 61
17711506 2007
20
Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour. 24 54 61
17124587 2007
21
LKB1 modulates lung cancer differentiation and metastasis. 61 54 24
17676035 2007
22
LKB1 mutation in large cell carcinoma of the lung. 24 61 54
16822578 2006
23
STK11 status and intussusception risk in Peutz-Jeghers syndrome. 24 54 61
16882735 2006
24
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 24 61 54
16287957 2005
25
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. 61 56
15863673 2005
26
LKB1, the multitasking tumour suppressor kinase. 54 61 24
15623475 2005
27
Relative frequency and morphology of cancers in STK11 mutation carriers. 24 54 61
15188174 2004
28
Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome. 24 54 61
14623934 2003
29
Regulation of the Wnt signalling component PAR1A by the Peutz-Jeghers syndrome kinase LKB1. 54 24 61
12879020 2003
30
Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 6 61
12372054 2002
31
Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis. 24 54 61
12218179 2002
32
Hepatocellular carcinoma caused by loss of heterozygosity in Lkb1 gene knockout mice. 24 54 61
12183403 2002
33
Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome. 61 56
12044140 2002
34
Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 61 56
11389158 2001
35
Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. 56 61
11215281 2001
36
Peutz-Jeghers Syndrome 6 61
20301443 2001
37
Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. 54 61 24
10441497 1999
38
STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. 61 56
10517250 1999
39
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 56 61
10408777 1999
40
Peutz-Jeghers syndrome: risks of a hereditary condition. 56 61
10499464 1999
41
Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. 56 61
9727843 1998
42
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. 61 56
9475093 1998
43
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. 61 56
9399902 1997
44
Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 61 56
9288765 1997
45
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. 56 61
8988175 1997
46
A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. 56 61
8698325 1996
47
Peutz-Jeghers syndrome in a neonate. 56 61
7776109 1995
48
Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. 56 61
7802138 1995
49
Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melanocytic proliferation. 56 61
1751469 1991
50
Cancer and the Peutz-Jeghers syndrome. 61 56
2599445 1989

Variations for Peutz-Jeghers Syndrome

ClinVar genetic disease variations for Peutz-Jeghers Syndrome:

6 (show top 50) (show all 902) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STK11 NC_000019.10:g.(?_1218417)_(1219413_?)deldeletion Pathogenic 417315 19:1218416-1219412 19:1218417-1219413
2 STK11 NC_000019.10:g.(?_1218417)_(1223172_?)deldeletion Pathogenic 417313 19:1218416-1223171 19:1218417-1223172
3 STK11 NM_000455.4(STK11):c.935_936del (p.Lys312fs)deletion Pathogenic 403780 rs397518443 19:1222997-1222998 19:1222998-1222999
4 STK11 NM_000455.4(STK11):c.842dup (p.Leu282fs)duplication Pathogenic 403750 rs121913321 19:1221313-1221314 19:1221314-1221315
5 STK11 NC_000019.10:g.(?_1221949)_(1222006_?)deldeletion Pathogenic 417312 19:1221948-1222005 19:1221949-1222006
6 STK11 NM_000455.4(STK11):c.129del (p.Lys44fs)deletion Pathogenic 403779 rs1060499961 19:1207040-1207040 19:1207041-1207041
7 STK11 NM_000455.4(STK11):c.989_996del (p.Asp330fs)deletion Pathogenic 403776 rs1060499960 19:1223050-1223057 19:1223051-1223058
8 STK11 NM_000455.4(STK11):c.180C>A (p.Tyr60Ter)SNV Pathogenic 428750 rs778376925 19:1207092-1207092 19:1207093-1207093
9 STK11 NM_000455.4(STK11):c.180C>G (p.Tyr60Ter)SNV Pathogenic 428749 rs778376925 19:1207092-1207092 19:1207093-1207093
10 STK11 NM_000455.4(STK11):c.290+1G>ASNV Pathogenic 428787 rs1131690950 19:1207203-1207203 19:1207204-1207204
11 STK11 NM_000455.4(STK11):c.658C>T (p.Gln220Ter)SNV Pathogenic 428776 rs1131690940 19:1220640-1220640 19:1220641-1220641
12 STK11 NM_000455.4(STK11):c.843dup (p.Leu282fs)duplication Pathogenic 428786 rs1131690949 19:1221319-1221320 19:1221320-1221321
13 STK11 NM_000455.4(STK11):c.862+1G>TSNV Pathogenic 428756 rs1131690921 19:1221340-1221340 19:1221341-1221341
14 STK11 NM_000455.4(STK11):c.921-2A>CSNV Pathogenic 440861 rs727504172 19:1222982-1222982 19:1222983-1222983
15 STK11 NM_000455.4(STK11):c.727del (p.Val243fs)deletion Pathogenic 446257 rs1555738475 19:1220706-1220706 19:1220707-1220707
16 STK11 NM_000455.4(STK11):c.179_180dup (p.Gly61fs)duplication Pathogenic 458034 rs1555735001 19:1207090-1207091 19:1207091-1207092
17 STK11 NM_000455.4(STK11):c.884_888del (p.Ala295fs)deletion Pathogenic 458070 rs1555738863 19:1221968-1221972 19:1221969-1221973
18 STK11 NC_000019.9:g.(?_1219317)_(1221345_?)deldeletion Pathogenic 458008 19:1219317-1221345
19 STK11 NM_000455.4(STK11):c.525_532dup (p.Lys178fs)duplication Pathogenic 458050 rs1555738219 19:1220430-1220431 19:1220431-1220432
20 STK11 NM_000455.4(STK11):c.816del (p.Ser271_Tyr272insTer)deletion Pathogenic 458065 rs1555738667 19:1221293-1221293 19:1221294-1221294
21 STK11 NM_000455.4(STK11):c.180del (p.Ser59_Tyr60insTer)deletion Pathogenic 503650 rs1555735008 19:1207092-1207092 19:1207093-1207093
22 STK11 NC_000019.10:g.(?_1218411)_(1220723_?)deldeletion Pathogenic 527861 19:1218410-1220722 19:1218411-1220723
23 STK11 NM_000455.4(STK11):c.157dup (p.Asp53fs)duplication Pathogenic 527822 rs1131690917 19:1207064-1207065 19:1207065-1207066
24 STK11 NM_000455.4(STK11):c.256C>T (p.Arg86Ter)SNV Pathogenic 527834 rs1057520039 19:1207168-1207168 19:1207169-1207169
25 STK11 NM_000455.4(STK11):c.468C>G (p.Tyr156Ter)SNV Pathogenic 527815 rs786201349 19:1220375-1220375 19:1220376-1220376
26 STK11 NM_000455.4(STK11):c.895_901dup (p.Arg301fs)duplication Pathogenic 527814 rs1555738874 19:1221978-1221979 19:1221979-1221980
27 STK11 NM_000455.4(STK11):c.793_794GA[3] (p.Asn266fs)short repeat Pathogenic 527838 rs1555738656 19:1221269-1221270 19:1221270-1221271
28 STK11 NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)indel Pathogenic 527811 rs1555738683 19:1221298-1221298 19:1221299-1221299
29 STK11 NM_000455.4(STK11):c.1097_1108+1232deldeletion Pathogenic 527833 19:1223158-1224401 19:1223159-1224402
30 STK11 NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)indel Pathogenic 527812 rs1555738899 19:1222003-1222004 19:1222004-1222005
31 STK11 NM_000455.5(STK11):c.-1114_290+1deldeletion Pathogenic 576830 19:1205798-1207202 19:1205799-1207203
32 STK11 NC_000019.10:g.(?_1206904)_(1226657_?)deldeletion Pathogenic 583657 19:1206903-1226656 19:1206904-1226657
33 STK11 NC_000019.10:g.(?_1206908)_(1221346_?)deldeletion Pathogenic 583544 19:1206907-1221345 19:1206908-1221346
34 STK11 NC_000019.10:g.(?_1221939)_(1222016_?)deldeletion Pathogenic 583799 19:1221938-1222015 19:1221939-1222016
35 STK11 NM_000455.4(STK11):c.291-1G>TSNV Pathogenic 574932 rs112675807 19:1218415-1218415 19:1218416-1218416
36 subset of 16 genes: STK11 NC_000019.9:g.(?_852323)_(1222011_?)deldeletion Pathogenic 584311 19:852323-1222011
37 subset of 16 genes: STK11 NC_000019.9:g.(?_852323)_(1226652_?)deldeletion Pathogenic 584004 19:852323-1226652
38 STK11 NM_000455.4(STK11):c.82dup (p.Arg28fs)duplication Pathogenic 584980 rs1568689930 19:1206992-1206993 19:1206993-1206994
39 STK11 NM_000455.5(STK11):c.152dup (p.Met51fs)duplication Pathogenic 631515 rs1568690161 19:1207063-1207064 19:1207064-1207065
40 STK11 NM_000455.4(STK11):c.197_225del (p.Val66fs)deletion Pathogenic 643317 19:1207103-1207131 19:1207104-1207132
41 STK11 NM_000455.4(STK11):c.105_106del (p.Tyr36fs)deletion Pathogenic 583088 rs1568689994 19:1207016-1207017 19:1207017-1207018
42 STK11 NM_000455.4(STK11):c.498C>G (p.Tyr166Ter)SNV Pathogenic 661321 19:1220405-1220405 19:1220406-1220406
43 STK11 NM_000455.5(STK11):c.963del (p.Ile322fs)deletion Pathogenic 663824 19:1223024-1223024 19:1223025-1223025
44 STK11 NM_000455.5(STK11):c.964del (p.Ile322fs)deletion Pathogenic 665485 19:1223027-1223027 19:1223028-1223028
45 STK11 NM_000455.5(STK11):c.965dup (p.Pro324fs)duplication Pathogenic 658358 19:1223027-1223028 19:1223028-1223029
46 STK11 NM_000455.4(STK11):c.755_758dup (p.Pro254fs)duplication Pathogenic 644482 19:1221231-1221232 19:1221232-1221233
47 STK11 NM_000455.5(STK11):c.762dup (p.Phe255fs)duplication Pathogenic 655873 19:1221235-1221236 19:1221236-1221237
48 STK11 NC_000019.10:g.(?_1219314)_(1222016_?)deldeletion Pathogenic 644282 19:1219313-1222015 19:1219314-1222016
49 STK11 NC_000019.10:g.(?_1206904)_(1219423_?)deldeletion Pathogenic 643712 19:1206903-1219422 19:1206904-1219423
50 STK11 NC_000019.10:g.(?_1206914)_(1226647_?)deldeletion Pathogenic 831379 19:1206913-1226646

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

73
# Symbol AA change Variation ID SNP ID
1 STK11 p.Leu67Pro VAR_006202 rs137853077
2 STK11 p.Asp194Asn VAR_007921 rs121913315
3 STK11 p.Arg297Lys VAR_007922
4 STK11 p.Trp239Cys VAR_033142 rs137853082
5 STK11 p.Pro315Ser VAR_033144 rs786202431
6 STK11 p.Glu16Gly VAR_065628
7 STK11 p.Asp176Asn VAR_071058 rs730881979
8 STK11 p.Trp308Cys VAR_071059 rs105752004

Copy number variations for Peutz-Jeghers Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 124216 19 1 6900000 Copy number STK11 Peutz-jeghers syndrome

Expression for Peutz-Jeghers Syndrome

Search GEO for disease gene expression data for Peutz-Jeghers Syndrome.

Pathways for Peutz-Jeghers Syndrome

Pathways related to Peutz-Jeghers Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 Adipocytokine signaling pathway hsa04920

Pathways related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
2
Show member pathways
13.24 TSC2 TSC1 PRKAR1A PRKAA2 GNAS CTNNB1
3
Show member pathways
13.01 TSC2 TSC1 STK11 PRKAR1A PRKAA2 GNAS
4
Show member pathways
12.93 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
5
Show member pathways
12.84 TSC2 TP53 SMAD4 PTEN CTNNB1 BRCA2
6 12.78 TP53 SMAD4 PTEN GNAS CTNNB1 BRCA2
7
Show member pathways
12.75 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
8
Show member pathways
12.73 TP53 SMAD4 PTEN CTNNB1 BRCA2 APC
9
Show member pathways
12.64 TSC2 TSC1 TP53 PTEN GNAS BRCA2
10 12.49 TSC2 STK11 PTEN PRKAA2 MARK1 CYP19A1
11
Show member pathways
12.45 TSC2 TSC1 TP53 STK11 PRKAA2
12
Show member pathways
12.43 SMAD4 GNAS CTNNB1 APC
13
Show member pathways
12.42 TP53 SMAD4 CTNNB1 APC
14 12.38 TP53 GNAS CTNNB1 APC
15
Show member pathways
12.36 TSC2 TSC1 STK11 PRKAA2
16
Show member pathways
12.34 TSC2 TSC1 TP53 PTEN
17
Show member pathways
12.33 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
18
Show member pathways
12.32 STK11 PRKAR1A PRKAA2 GNAS
19
Show member pathways
12.29 TSC2 TP53 PTEN CTNNB1 APC
20 12.12 TSC2 TSC1 TP53 PTEN
21
Show member pathways
12.12 TSC2 TSC1 STK11 PRKAR1A PRKAA2 GNAS
22
Show member pathways
12.11 TSC2 TSC1 TP53 STK11 PRKAA2
23 12.08 TSC2 PRKAA2 CTNNB1 APC
24 12.06 TP53 SMAD4 PRKAR1A GNAS CTNNB1 APC
25
Show member pathways
12.05 STK11 SMAD4 PTEN PRKAA2
26 12.03 TSC2 TP53 PTEN APC
27 12.01 TSC2 TSC1 STK11 PTEN PRKAA2
28 11.92 TP53 SMAD4 PTEN CTNNB1 APC
29 11.82 PRKAA2 GNAS CTNNB1
30 11.81 TSC2 TSC1 PTEN
31 11.8 SMAD4 PTEN CTNNB1
32 11.78 SMAD4 PRKAR1A GNAS
33 11.76 TSC2 TSC1 TP53 PTEN PRKAA2
34 11.68 TSC2 TSC1 TP53 PTEN CTNNB1 APC
35 11.55 TP53 PTEN APC
36 11.53 STK11 PRKAR1A PRKAA2
37 11.52 TSC2 TSC1 CTNNB1 APC
38 11.46 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
39 11.36 TP53 PTEN APC
40 11.24 SMAD4 CTNNB1 APC
41 11.06 TSC2 TSC1 TP53 STK11IP STK11 SMAD4

GO Terms for Peutz-Jeghers Syndrome

Cellular components related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.03 TSC2 TSC1 TP53 STK11IP STK11 SMAD4
2 cell projection GO:0042995 9.8 TSC1 PTEN MARK1 GNAS CTNNB1 CBARP
3 centrosome GO:0005813 9.43 TP53 SMAD4 PRKAR1A CTNNB1 BRCA2 APC
4 beta-catenin destruction complex GO:0030877 9.37 CTNNB1 APC
5 Wnt signalosome GO:1990909 9.32 CTNNB1 APC
6 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.88 TP53 SMAD4 PTEN APC
2 Wnt signaling pathway GO:0016055 9.85 PRKAA2 MARK1 CTNNB1 APC
3 regulation of cell proliferation GO:0042127 9.83 TP53 SMAD4 INHA CTNNB1
4 heart development GO:0007507 9.77 TSC2 TP53 PTEN PRKAR1A CTNNB1
5 protein localization GO:0008104 9.75 TSC2 TP53 STK11IP
6 canonical Wnt signaling pathway GO:0060070 9.71 STK11 PTEN CTNNB1
7 positive regulation of macroautophagy GO:0016239 9.61 TSC2 TSC1 PRKAA2
8 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.59 TP53 BRCA2
9 negative regulation of TOR signaling GO:0032007 9.58 TSC2 TSC1 PRKAA2
10 anoikis GO:0043276 9.57 TSC2 STK11
11 negative regulation of cell size GO:0045792 9.56 TSC1 PTEN
12 regulation of cell cycle GO:0051726 9.55 TSC2 TSC1 TP53 PTEN INHA
13 prostate gland growth GO:0060736 9.51 PTEN CYP19A1
14 female gonad development GO:0008585 9.5 SMAD4 CYP19A1 BRCA2
15 negative regulation of mitophagy GO:1901525 9.49 TSC2 TP53
16 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.48 SMAD4 INHA
17 hair follicle placode formation GO:0060789 9.46 GNAS CTNNB1
18 tissue homeostasis GO:0001894 9.43 STK11 GNAS CTNNB1
19 cell cycle arrest GO:0007050 9.35 TP53 STK11 PRKAA2 INHA APC
20 negative regulation of cell proliferation GO:0008285 9.23 TSC2 TSC1 TP53 STK11 SMAD4 PTEN

Molecular functions related to Peutz-Jeghers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.35 TP53 STK11IP PTEN CTNNB1 APC
2 I-SMAD binding GO:0070411 9.16 SMAD4 CTNNB1
3 RNA polymerase II transcription factor binding GO:0001085 8.8 TP53 SMAD4 CTNNB1

Sources for Peutz-Jeghers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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