MCID: PTZ001
MIFTS: 70

Peutz-Jeghers Syndrome

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

Aliases & Classifications for Peutz-Jeghers Syndrome

MalaCards integrated aliases for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Pjs 57 24 53 25 59 75
Polyposis, Hamartomatous Intestinal 57 76 53 25
Polyps-and-Spots Syndrome 57 53 25 75
Periorificial Lentiginosis Syndrome 53 25
Lentiginosis, Perioral 53 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 73
Hamartomatous Intestinal Polyposis 59
Intestinal Hamartomatous Polyposis 75
Peutz-Jeghers Polyp of the Stomach 73
Colonic Hamartomatous Polyp 12
Gastric Peutz-Jeghers Polyp 12
Peutz Jeghers Colon Polyp 12
Polyposis, Intestinal, Ii 25
Polyps and Spots Syndrome 59
Peutz Jeghers Polyposis 53
Peutz-Jeghers Polyposis 25
Peutz Jeghers Polyp 12
Hamartomatous Polyp 73
Peutz Jehgers Polyp 73

Characteristics:

Orphanet epidemiological data:

59
peutz-jeghers syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

57
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:

32
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:



Summaries for Peutz-Jeghers Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Peutz-Jeghers Syndrome, also known as pjs, is related to bannayan-riley-ruvalcaba syndrome and gastric cancer. 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 Pancrelipase and Secretin have been mentioned in the context of this disorder. Affiliated tissues include colon, pancreas and small intestine, and related phenotypes are vomiting and abnormality of the gallbladder

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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 165)
# Related Disease Score Top Affiliating Genes
1 bannayan-riley-ruvalcaba syndrome 32.9 PTEN STK11IP
2 gastric cancer 31.4 APC CTNNB1 PTEN SMAD4 TP53
3 anal squamous cell carcinoma 30.8 APC TP53
4 pancreatic cancer 30.8 BRCA2 CTNNB1 SMAD4 STK11 TP53
5 tuberous sclerosis 1 30.3 TSC1 TSC2
6 adenoma 30.3 APC CTNNB1 SMAD4 TP53
7 familial adenomatous polyposis 30.1 APC CTNNB1 TP53
8 juvenile polyposis syndrome 30.1 APC PTEN SMAD4 STK11
9 tuberous sclerosis 29.7 PRKAA2 STK11 TSC1 TSC2
10 adenocarcinoma 29.6 APC CTNNB1 PTEN SMAD4 STK11 TP53
11 adrenocortical carcinoma, hereditary 29.5 CTNNB1 CYP19A1 TP53
12 pancreas adenocarcinoma 29.4 BRCA2 CTNNB1 SMAD4 TP53
13 cholangiocarcinoma 29.3 CTNNB1 PTEN SMAD4 TP53
14 thyroid cancer 29.3 APC CTNNB1 PTEN TP53
15 gastric adenocarcinoma 29.2 APC CTNNB1 PTEN SMAD4 TP53
16 cervical cancer 29.0 CTNNB1 PTEN SMAD4 STK11 TP53
17 squamous cell carcinoma 29.0 CTNNB1 PTEN SMAD4 STK11 TP53
18 cowden disease 28.4 BRCA2 PTEN SMAD4 STK11 TSC1 TSC2
19 colorectal cancer 27.2 APC BRCA2 CTNNB1 PTEN SMAD4 STK11
20 breast cancer 27.1 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
21 polyposis syndrome, hereditary mixed, 1 11.3
22 carney complex, type 1 11.2
23 ovarian cancer 11.2
24 bier spots 11.2
25 childhood ovarian cancer 11.2
26 familial stomach cancer 11.2
27 intussusception 10.8
28 hyperplastic polyposis syndrome 10.7 APC TP53
29 sertoli cell tumor 10.6
30 pancreatitis 10.5
31 ovarian sex cord tumor with annular tubules 10.5
32 melanoma, cutaneous malignant 1 10.5 PTEN STK11 TP53
33 gynecomastia 10.5
34 testicular germ cell tumor 10.5 PTEN STK11 TP53
35 cervicitis 10.5
36 uterine corpus serous adenocarcinoma 10.4 BRCA2 TP53
37 tetraploidy 10.4 BRCA2 TP53
38 lentigines 10.4
39 endocervicitis 10.4
40 mutyh-associated polyposis 10.4 APC SMAD4 TP53
41 fallopian tube adenocarcinoma 10.4 BRCA2 TP53
42 multilocular clear cell renal cell carcinoma 10.3 TSC1 TSC2
43 desmoid disease, hereditary 10.3 APC CTNNB1
44 subependymal glioma 10.3 TSC1 TSC2
45 duodenitis 10.3
46 kidney angiomyolipoma 10.3 TSC1 TSC2
47 megalencephaly 10.3 PTEN STK11 TSC1
48 familial colorectal cancer type x 10.3 BRCA2 SMAD4
49 autosomal genetic disease 10.3 PTEN TP53 TSC2
50 benign ependymoma 10.3 TSC1 TSC2

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



Diseases related to Peutz-Jeghers Syndrome

Symptoms & Phenotypes for Peutz-Jeghers Syndrome

Symptoms via clinical synopsis from OMIM:

57
Hematology:
iron deficiency anemia

Neoplasia:
gastrointestinal carcinoma
pancreatic cancer
breast cancer (ductal)
thyroid cancer
lung
more
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

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

Skeletal Hands:
clubbing of fingers

Head And Neck Nose:
nasal polyps

Respiratory Airways:
bronchial polyps

Abdomen Biliary Tract:
biliary tract polyps

Genitourinary Bladder:
bladder polyps

Endocrine Features:
precocious puberty with sertoli cell tumor


Clinical features from OMIM:

175200

Human phenotypes related to Peutz-Jeghers Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
2 abnormality of the gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005264
3 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
5 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
6 multiple renal cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0005562
7 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
8 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
9 rectal prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0002035
10 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
11 neoplasm of the colon 59 32 occasional (7.5%) Occasional (29-5%) HP:0100273
12 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
13 multiple lentigines 59 32 hallmark (90%) Very frequent (99-80%) HP:0001003
14 gastrointestinal carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002672
15 gastrointestinal infarctions 59 32 occasional (7.5%) Occasional (29-5%) HP:0005244
16 pancreatic adenocarcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006725
17 enlarged polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0008675
18 stomach cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012126
19 neoplasm of the nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0012720
20 cervix cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0030079
21 neoplasm of the lung 59 32 occasional (7.5%) Occasional (29-5%) HP:0100526
22 biliary tract neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100574
23 nasal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100582
24 melanonychia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100644
25 abnormal pigmentation of the oral mucosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0100669
26 neoplasm of the rectum 59 32 occasional (7.5%) Occasional (29-5%) HP:0100743
27 esophageal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100751
28 neoplasm of the small intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0100833
29 neoplasm 59 Occasional (29-5%)
30 abnormality of the mouth 32 HP:0000153
31 biliary tract abnormality 32 HP:0001080
32 iron deficiency anemia 32 HP:0001891
33 macule 59 Very frequent (99-80%)
34 gynecomastia 32 HP:0000771
35 hypermelanotic macule 32 HP:0001034
36 neoplasm of the pancreas 32 HP:0002894
37 abnormality of the nose 59 Occasional (29-5%)
38 abnormality of the respiratory system 59 Occasional (29-5%)
39 abnormality of the gastrointestinal tract 59 Very frequent (99-80%)
40 hamartomatous polyposis 32 HP:0004390
41 intestinal bleeding 32 HP:0002584
42 ovarian cyst 32 HP:0000138
43 clubbing of fingers 32 HP:0100759
44 clubbing 32 HP:0001217
45 intussusception 32 HP:0002576
46 precocious puberty with sertoli cell tumor 32 HP:0008204

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.56 APC CTNNB1 PTEN STK11
2 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 PTEN SMAD4
3 Increased mitotic index GR00110-A-0 9.13 PRKAA2 SMAD4 STK11
4 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC BRCA2 SMAD4 TSC1 TSC2

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

46 (show all 24)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 SMAD4 STK11 TSC1 TP53 TSC2 CYP19A1
2 cellular MP:0005384 10.34 SMAD4 STK11 TSC1 TP53 TSC2 CYP19A1
3 endocrine/exocrine gland MP:0005379 10.32 TP53 STK11 SMAD4 TSC1 TSC2 PTEN
4 growth/size/body region MP:0005378 10.31 SMAD4 STK11 TSC1 TP53 TSC2 CYP19A1
5 homeostasis/metabolism MP:0005376 10.28 STK11 SMAD4 TSC2 TSC1 TP53 CYP19A1
6 cardiovascular system MP:0005385 10.26 STK11 SMAD4 PTEN TSC2 TSC1 TP53
7 hematopoietic system MP:0005397 10.25 SMAD4 STK11 TSC2 TP53 CYP19A1 PTEN
8 digestive/alimentary MP:0005381 10.24 TP53 STK11 PTPRH SMAD4 CYP19A1 PTEN
9 embryo MP:0005380 10.24 SMAD4 STK11 TSC1 TP53 TSC2 PTEN
10 integument MP:0010771 10.21 TP53 STK11 SMAD4 TSC1 TSC2 PTEN
11 immune system MP:0005387 10.18 STK11 SMAD4 PTEN TP53 CYP19A1 CTNNB1
12 nervous system MP:0003631 10.14 SMAD4 STK11 TSC1 TP53 TSC2 CYP19A1
13 liver/biliary system MP:0005370 10.13 TP53 STK11 SMAD4 TSC1 TSC2 CYP19A1
14 neoplasm MP:0002006 10.13 TP53 STK11 PTPRH SMAD4 TSC1 TSC2
15 muscle MP:0005369 10.11 SMAD4 TP53 STK11 TSC1 CYP19A1 PTEN
16 adipose tissue MP:0005375 10.02 PTEN TP53 PRKAA2 CYP19A1 APC
17 normal MP:0002873 10.02 SMAD4 STK11 TP53 TSC2 CYP19A1 PTEN
18 limbs/digits/tail MP:0005371 9.97 SMAD4 PTEN TP53 CTNNB1 APC BRCA2
19 hearing/vestibular/ear MP:0005377 9.96 TP53 CYP19A1 CTNNB1 PRKAA2 APC
20 renal/urinary system MP:0005367 9.96 TP53 STK11 SMAD4 TSC1 TSC2 PTEN
21 reproductive system MP:0005389 9.85 SMAD4 TP53 STK11 TSC1 TSC2 CYP19A1
22 pigmentation MP:0001186 9.72 PTEN TP53 CYP19A1 CTNNB1 APC
23 skeleton MP:0005390 9.56 SMAD4 PTEN TSC1 TP53 CYP19A1 CTNNB1
24 vision/eye MP:0005391 9.17 STK11 PTEN TSC1 TP53 CYP19A1 CTNNB1

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational Phase 1, Phase 2 53608-75-6
2
Secretin Approved, Investigational Phase 1, Phase 2 108153-74-8
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
6 Gastrointestinal Agents Phase 1, Phase 2
7 Hormone Antagonists Phase 1, Phase 2
8 Hormones Phase 1, Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
10 pancreatin Phase 1, Phase 2
11 Anti-Bacterial Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Antifungal Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Immunosuppressive Agents Phase 2
16
Epinephrine Approved, Vet_approved 51-43-4 5816
17
Racepinephrine Approved 329-65-7 838
18
Serine Approved, Nutraceutical 56-45-1 5951
19 Epinephryl borate
20 Mitogens

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus
2 Secretin (ChiRhoStim) Pancreas Perfusion for Pancreatic Adenocarcinoma Terminated NCT00587132 Phase 1, Phase 2 Synthetic Human Secretin
3 Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome Withdrawn NCT01178151 Phase 2 Everolimus
4 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
5 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
6 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
7 Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study) Completed NCT00714701
8 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
9 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
10 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
11 Pancreas Registry and High Risk Registry Recruiting NCT02775461
12 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
13 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation Study Active, not recruiting NCT01838577
16 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
17 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Enrolling by invitation NCT02703545
18 Blood Markers of Early Pancreas Cancer Not yet recruiting NCT03568630

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:

41
Colon, Pancreas, Small Intestine, Eye, Cervix, Lung, Ovary

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 627)
# Title Authors Year
1
Unusual findings in Peutz-Jeghers syndrome: endoscopic and histologic appearance of gastric hamartomatous polyposis with foveolar dysplasia. ( 29496571 )
2018
2
Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome. ( 29948449 )
2018
3
Two novel<i>STK11</i>missense mutations induce phosphorylation of S6K and promote cell proliferation in Peutz-Jeghers syndrome. ( 29399144 )
2018
4
Close and regular surveillance is key to prevent severe complications for Peutz-Jeghers syndrome patients without gastrointestinal polyps: case report of a novel STK11 mutation (c.471_472delCT) in a Chinese girl. ( 29685139 )
2018
5
Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk. ( 29720104 )
2018
6
Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity. ( 29707083 )
2018
7
A novel STK11 missense mutation (c.346Ga8^&amp;gt;a8^T) causing Peutz-Jeghers syndrome in a Chinese male with a negative family history. ( 29921539 )
2018
8
Side-to-side bowel anastomosis mimicking intussusception in a 2-year-old child with Peutz-Jeghers syndrome. ( 29955242 )
2018
9
Chemoprevention in Patients with Peutz-Jeghers Syndrome: Lessons Learned. ( 29371475 )
2018
10
Underwater EMR with submucosal lift for a small intestinal polyp in a patient with Peutz-Jeghers syndrome. ( 29916499 )
2018
11
Safety and efficacy of small bowel polypectomy using a balloon-assisted enteroscope in pediatric patients with Peutz-Jeghers syndrome. ( 29449094 )
2018
12
Intraoperative enteroscopy in Peutz-Jeghers syndrome. ( 29497135 )
2018
13
Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein. ( 29447078 )
2018
14
Crossed-clip strangulation for the management of small intestinal polyps in patients with Peutz-Jeghers syndrome. ( 29779232 )
2018
15
Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry. ( 29310834 )
2018
16
Peutz-Jeghers Syndrome: A Circumventable Emergency. ( 29692461 )
2018
17
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. ( 28869103 )
2017
18
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. ( 28231849 )
2017
19
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. ( 28900777 )
2017
20
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome. ( 28643501 )
2017
21
Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome. ( 28062068 )
2017
22
Small Bowel Intussusception in a 16-Month-Old Child With Peutz-Jeghers Syndrome. ( 28929791 )
2017
23
A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome. ( 28894521 )
2017
24
Triple site intussusceptions in Peutz-Jeghers syndrome. ( 28768368 )
2017
25
A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. ( 29245219 )
2017
26
Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis. ( 28560011 )
2017
27
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome. ( 28352323 )
2017
28
Peutz -Jeghers syndrome (PJS). ( 29168285 )
2017
29
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Paediatric Patients With PEUTZ-Jeghers Syndrome. ( 28319601 )
2017
30
Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. ( 28653895 )
2017
31
A novel mutation (c.855delG) in STK11 gene is associated with Peutz-Jeghers syndrome in a Chinese family. ( 29301733 )
2017
32
Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. ( 28489743 )
2017
33
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History. ( 28986664 )
2017
34
Synchronous Cervical Minimal Deviation Adenocarcinoma, Gastric Type Adenocarcinoma and Lobular Endocervical Glandular Hyperplasia Along with STIL in Peutz-Jeghers Syndrome: Eliciting Oncogenesis Pathways. ( 28832082 )
2017
35
Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. ( 28445255 )
2017
36
Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. ( 28184053 )
2017
37
Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. ( 29141581 )
2017
38
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. ( 28185117 )
2017
39
Unusual ultrasound appearance of small bowel intussusception and secondary bowel obstruction in a child with Peutz-Jeghers syndrome. ( 28314199 )
2017
40
A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. ( 28391433 )
2017
41
Bowel obstruction involving capsule endoscopy in a patient with Peutz-Jeghers syndrome. ( 28684031 )
2017
42
Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy. ( 27404294 )
2016
43
A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome. ( 27550049 )
2016
44
Recurrent ovarian Sertoli-Leydig cell tumor in a child with Peutz-Jeghers syndrome. ( 28101370 )
2016
45
Seven-Year Follow-Up of Peutz-Jeghers Syndrome. ( 27195155 )
2016
46
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. ( 26877140 )
2016
47
The usefulness of cold polypectomy for the small bowel polyps in Peutz-Jeghers syndrome. ( 27061809 )
2016
48
Disseminated plantar lentigines associated with Peutz-Jeghers syndrome. ( 27173455 )
2016
49
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
50
Unusual Sertoli Cell Tumor Associated With Sex Cord Tumor With Annular Tubules in Peutz-Jeghers Syndrome: Report of a Case and Review of the Literature on Ovarian Tumors in Peutz-Jeghers Syndrome. ( 26621753 )
2016

Variations for Peutz-Jeghers Syndrome

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

75
# 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

ClinVar genetic disease variations for Peutz-Jeghers Syndrome:

6
(show top 50) (show all 960)
# Gene Variation Type Significance SNP ID Assembly Location
1 STK11 STK11, EX4-5DEL/EX6-7INV deletion Pathogenic
2 STK11 NM_000455.4(STK11): c.759C> A (p.Tyr253Ter) single nucleotide variant Pathogenic rs137853075 GRCh37 Chromosome 19, 1221236: 1221236
3 STK11 NM_000455.4(STK11): c.759C> A (p.Tyr253Ter) single nucleotide variant Pathogenic rs137853075 GRCh38 Chromosome 19, 1221237: 1221237
4 STK11 NM_000455.4(STK11): c.843delG (p.Leu282Serfs) deletion Pathogenic rs587776656 GRCh38 Chromosome 19, 1221321: 1221321
5 STK11 NM_000455.4(STK11): c.843delG (p.Leu282Serfs) deletion Pathogenic rs587776656 GRCh37 Chromosome 19, 1221320: 1221320
6 STK11 NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs) deletion Pathogenic rs587776657 GRCh38 Chromosome 19, 1220701: 1220704
7 STK11 NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs) deletion Pathogenic rs587776657 GRCh37 Chromosome 19, 1220700: 1220703
8 STK11 NM_000455.4(STK11): c.465-1G> A single nucleotide variant Pathogenic rs587776658 GRCh38 Chromosome 19, 1220372: 1220372
9 STK11 NM_000455.4(STK11): c.465-1G> A single nucleotide variant Pathogenic rs587776658 GRCh37 Chromosome 19, 1220371: 1220371
10 STK11 NM_000455.4(STK11): c.250A> T (p.Lys84Ter) single nucleotide variant Pathogenic rs137853076 GRCh37 Chromosome 19, 1207162: 1207162
11 STK11 NM_000455.4(STK11): c.250A> T (p.Lys84Ter) single nucleotide variant Pathogenic rs137853076 GRCh38 Chromosome 19, 1207163: 1207163
12 STK11 NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs) deletion Pathogenic rs587776659 GRCh38 Chromosome 19, 1221312: 1221313
13 STK11 NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs) deletion Pathogenic rs587776659 GRCh37 Chromosome 19, 1221311: 1221312
14 STK11 NM_000455.4(STK11): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853077 GRCh37 Chromosome 19, 1207112: 1207112
15 STK11 NM_000455.4(STK11): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853077 GRCh38 Chromosome 19, 1207113: 1207113
16 STK11 NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn) deletion Pathogenic rs587776660 GRCh38 Chromosome 19, 1221994: 1222002
17 STK11 NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn) deletion Pathogenic rs587776660 GRCh37 Chromosome 19, 1221993: 1222001
18 STK11 NM_000455.4(STK11): c.169G> T (p.Glu57Ter) single nucleotide variant Pathogenic rs137854584 GRCh37 Chromosome 19, 1207081: 1207081
19 STK11 NM_000455.4(STK11): c.169G> T (p.Glu57Ter) single nucleotide variant Pathogenic rs137854584 GRCh38 Chromosome 19, 1207082: 1207082
20 STK11 NM_000455.4(STK11): c.418delC (p.Leu140Trpfs) deletion Pathogenic rs397518440 GRCh37 Chromosome 19, 1219366: 1219366
21 STK11 NM_000455.4(STK11): c.418delC (p.Leu140Trpfs) deletion Pathogenic rs397518440 GRCh38 Chromosome 19, 1219367: 1219367
22 STK11 NM_000455.4(STK11): c.197dupT (p.Leu67Alafs) duplication Pathogenic rs397518441 GRCh37 Chromosome 19, 1207109: 1207109
23 STK11 NM_000455.4(STK11): c.197dupT (p.Leu67Alafs) duplication Pathogenic rs397518441 GRCh38 Chromosome 19, 1207110: 1207110
24 STK11 NM_000455.4(STK11): c.717G> C (p.Trp239Cys) single nucleotide variant Pathogenic rs137853082 GRCh37 Chromosome 19, 1220699: 1220699
25 STK11 NM_000455.4(STK11): c.717G> C (p.Trp239Cys) single nucleotide variant Pathogenic rs137853082 GRCh38 Chromosome 19, 1220700: 1220700
26 STK11 NM_000455.4(STK11): c.891delG (p.Arg297Serfs) deletion Pathogenic rs587776661 GRCh37 Chromosome 19, 1221976: 1221976
27 STK11 NM_000455.4(STK11): c.891delG (p.Arg297Serfs) deletion Pathogenic rs587776661 GRCh38 Chromosome 19, 1221977: 1221977
28 STK11 NM_000455.4(STK11): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs137853083 GRCh37 Chromosome 19, 1221215: 1221215
29 STK11 NM_000455.4(STK11): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs137853083 GRCh38 Chromosome 19, 1221216: 1221216
30 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh37 Chromosome 19, 1207081: 1207081
31 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh38 Chromosome 19, 1207082: 1207082
32 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh37 Chromosome 19, 1221962: 1221962
33 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh38 Chromosome 19, 1221963: 1221963
34 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh37 Chromosome 19, 1222983: 1222983
35 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh38 Chromosome 19, 1222984: 1222984
36 STK11 NM_000455.4(STK11): c.149T> G (p.Leu50Arg) single nucleotide variant Uncertain significance rs587783061 GRCh38 Chromosome 19, 1207062: 1207062
37 STK11 NM_000455.4(STK11): c.149T> G (p.Leu50Arg) single nucleotide variant Uncertain significance rs587783061 GRCh37 Chromosome 19, 1207061: 1207061
38 STK11 NM_000455.4(STK11): c.908T> G (p.Ile303Ser) single nucleotide variant Likely pathogenic rs727504171 GRCh37 Chromosome 19, 1221993: 1221993
39 STK11 NM_000455.4(STK11): c.908T> G (p.Ile303Ser) single nucleotide variant Likely pathogenic rs727504171 GRCh38 Chromosome 19, 1221994: 1221994
40 STK11 NM_000455.4(STK11): c.921-2A> T single nucleotide variant Pathogenic rs727504172 GRCh37 Chromosome 19, 1222982: 1222982
41 STK11 NM_000455.4(STK11): c.921-2A> T single nucleotide variant Pathogenic rs727504172 GRCh38 Chromosome 19, 1222983: 1222983
42 STK11 NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs) duplication Pathogenic rs786200991 GRCh37 Chromosome 19, 1223051: 1223051
43 STK11 NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs) duplication Pathogenic rs786200991 GRCh38 Chromosome 19, 1223052: 1223052
44 STK11 NM_000455.4(STK11): c.151A> C (p.Met51Leu) single nucleotide variant Uncertain significance rs730881986 GRCh38 Chromosome 19, 1207064: 1207064
45 STK11 NM_000455.4(STK11): c.151A> C (p.Met51Leu) single nucleotide variant Uncertain significance rs730881986 GRCh37 Chromosome 19, 1207063: 1207063
46 STK11 NM_000455.4(STK11): c.310A> G (p.Arg104Gly) single nucleotide variant Uncertain significance rs587782783 GRCh38 Chromosome 19, 1218436: 1218436
47 STK11 NM_000455.4(STK11): c.310A> G (p.Arg104Gly) single nucleotide variant Uncertain significance rs587782783 GRCh37 Chromosome 19, 1218435: 1218435
48 STK11 NM_000455.4(STK11): c.357C> T (p.Asn119=) single nucleotide variant Conflicting interpretations of pathogenicity rs372511774 GRCh38 Chromosome 19, 1218483: 1218483
49 STK11 NM_000455.4(STK11): c.357C> T (p.Asn119=) single nucleotide variant Conflicting interpretations of pathogenicity rs372511774 GRCh37 Chromosome 19, 1218482: 1218482
50 STK11 NM_000455.4(STK11): c.374+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368923696 GRCh38 Chromosome 19, 1218511: 1218511

Copy number variations for Peutz-Jeghers Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

37
# 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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 APC CTNNB1 PRKAA2 PTEN SMAD4 STK11
2
Show member pathways
12.87 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
3
Show member pathways
12.75 APC CTNNB1 PRKAA2 PTEN STK11 TP53
4 12.72 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
5
Show member pathways
12.72 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
6
Show member pathways
12.7 BRCA2 PTEN TP53 TSC1 TSC2
7
Show member pathways
12.65 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
8
Show member pathways
12.62 APC CTNNB1 PTEN TP53
9
Show member pathways
12.49 CTNNB1 PTEN SMAD4 TP53
10
Show member pathways
12.48 APC CTNNB1 SMAD4 TP53
11
Show member pathways
12.44 PRKAA2 PTEN TSC1 TSC2
12 12.44 CYP19A1 PRKAA2 PTEN STK11 TSC2
13 12.36 APC CTNNB1 SMAD4 TP53
14
Show member pathways
12.35 PRKAA2 STK11 TSC1 TSC2
15
Show member pathways
12.35 PRKAA2 STK11 TP53 TSC1 TSC2
16
Show member pathways
12.26 APC PRKAA2 PTEN STK11 TP53 TSC1
17
Show member pathways
12.16 PRKAA2 STK11 TSC1 TSC2
18 12.14 APC CTNNB1 SMAD4 TP53
19 12.12 PTEN TP53 TSC1 TSC2
20 12.1 PTEN TP53 TSC1 TSC2
21 12.06 APC CTNNB1 SMAD4
22 12.06 APC CTNNB1 PRKAA2 TSC2
23
Show member pathways
12.05 APC CTNNB1 TP53
24
Show member pathways
12.05 PRKAA2 TSC1 TSC2
25
Show member pathways
12.05 PRKAA2 STK11 TP53 TSC1 TSC2
26
Show member pathways
12.03 CTNNB1 PTEN TSC2
27
Show member pathways
12.03 PRKAA2 PTEN SMAD4 STK11
28 12.01 APC PTEN TP53 TSC2
29 12 CTNNB1 PRKAA2 TP53
30 12 APC CTNNB1 SMAD4
31
Show member pathways
11.96 PTEN TP53 TSC1 TSC2
32 11.96 PRKAA2 PTEN STK11 TSC1 TSC2
33 11.92 CTNNB1 TP53 TSC2
34 11.87 PTEN SMAD4 TP53
35 11.86 APC CTNNB1 PTEN SMAD4 TP53
36 11.8 PTEN TSC1 TSC2
37 11.79 CTNNB1 PTEN SMAD4
38 11.7 PRKAA2 PTEN TP53 TSC1 TSC2
39 11.68 APC CTNNB1 PTEN TP53 TSC1 TSC2
40 11.55 APC PTEN TP53
41 11.52 APC CTNNB1 TSC1 TSC2
42 11.46 BRCA2 CTNNB1 CYP19A1 PTEN SMAD4 STK11
43 11.35 APC PTEN TP53
44 11.22 APC CTNNB1 SMAD4
45 11.08 APC CTNNB1
46 11.06 SMAD4 STK11 STK11IP TP53 TSC1 TSC2
47 11.04 PTEN SMAD4
48 10.93 APC CTNNB1

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 nucleoplasm GO:0005654 9.97 APC BRCA2 CTNNB1 PRKAA2 PTEN SMAD4
2 cytosol GO:0005829 9.96 APC BRCA2 CTNNB1 PRKAA2 PTEN SMAD4
3 centrosome GO:0005813 9.73 APC BRCA2 CTNNB1 SMAD4
4 cytoplasm GO:0005737 9.73 APC BRCA2 CTNNB1 PRKAA2 PTEN PTPRH
5 microvillus membrane GO:0031528 9.4 CTNNB1 PTPRH
6 beta-catenin destruction complex GO:0030877 9.32 APC CTNNB1
7 Wnt signalosome GO:1990909 9.16 APC CTNNB1
8 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.93 APC BRCA2 STK11 TP53
2 positive regulation of apoptotic process GO:0043065 9.86 APC CTNNB1 PTEN TP53
3 autophagy GO:0006914 9.82 PRKAA2 STK11 TP53
4 regulation of signal transduction by p53 class mediator GO:1901796 9.79 PRKAA2 STK11 TP53
5 regulation of cell cycle GO:0051726 9.78 PTEN TSC1 TSC2
6 protein deubiquitination GO:0016579 9.78 APC PTEN SMAD4 TP53
7 negative regulation of cell growth GO:0030308 9.74 SMAD4 STK11 TP53
8 kidney development GO:0001822 9.72 CTNNB1 SMAD4 TSC1
9 vasculature development GO:0001944 9.64 CTNNB1 STK11
10 response to X-ray GO:0010165 9.63 BRCA2 TP53
11 protein localization GO:0008104 9.63 STK11IP TP53 TSC2
12 cell proliferation GO:0008283 9.63 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
13 beta-catenin destruction complex disassembly GO:1904886 9.62 APC CTNNB1
14 cell fate specification GO:0001708 9.62 APC CTNNB1
15 gastrulation with mouth forming second GO:0001702 9.6 CTNNB1 SMAD4
16 uterus development GO:0060065 9.59 CYP19A1 SMAD4
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA2 TP53
18 positive regulation of histone H3-K4 methylation GO:0051571 9.58 CTNNB1 SMAD4
19 negative regulation of TOR signaling GO:0032007 9.58 PRKAA2 TSC1 TSC2
20 canonical Wnt signaling pathway GO:0060070 9.56 APC CTNNB1 PTEN STK11
21 negative regulation of oxidative stress-induced neuron death GO:1903204 9.54 CTNNB1 TSC1
22 positive regulation of macroautophagy GO:0016239 9.54 PRKAA2 TSC1 TSC2
23 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.52 PTEN TSC2
24 anoikis GO:0043276 9.51 STK11 TSC2
25 female gonad development GO:0008585 9.5 BRCA2 CYP19A1 SMAD4
26 negative regulation of cell size GO:0045792 9.49 PTEN TSC1
27 prostate gland growth GO:0060736 9.43 CYP19A1 PTEN
28 cell cycle arrest GO:0007050 9.43 APC PRKAA2 STK11 TP53 TSC1 TSC2
29 negative regulation of cell proliferation GO:0008285 9.23 APC CTNNB1 PTEN SMAD4 STK11 TP53

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.62 CTNNB1 PRKAA2 SMAD4 TP53
2 binding GO:0005488 9.46 APC CTNNB1 TSC1 TSC2
3 I-SMAD binding GO:0070411 9.26 CTNNB1 SMAD4
4 RNA polymerase II transcription factor binding GO:0001085 9.13 CTNNB1 SMAD4 TP53
5 protein kinase binding GO:0019901 9.02 APC CTNNB1 PTEN STK11IP TP53

Sources for Peutz-Jeghers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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