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 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
Peutzjeghers Syndrome 76
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 gastric cancer and pancreatic 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 Secretin and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and eye, 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 175)
# Related Disease Score Top Affiliating Genes
1 gastric cancer 32.3 TP53 SMAD4 PTEN CTNNB1 APC
2 pancreatic cancer 32.1 TP53 STK11 SMAD4 CTNNB1 BRCA2
3 adenoma 31.0 TP53 SMAD4 CTNNB1 APC
4 adenocarcinoma 30.8 TP53 STK11 SMAD4 PTEN CTNNB1 APC
5 anal squamous cell carcinoma 30.5 TP53 APC
6 familial adenomatous polyposis 30.3 TP53 SMAD4 CTNNB1 APC
7 pancreas adenocarcinoma 30.2 TP53 STK11 SMAD4 CTNNB1 BRCA2
8 juvenile polyposis syndrome 30.2 STK11 SMAD4 PTEN APC
9 gastric adenocarcinoma 30.2 TP53 SMAD4 PTEN CTNNB1 APC
10 adrenocortical carcinoma, hereditary 30.1 TP53 CYP19A1 CTNNB1
11 tuberous sclerosis 30.1 TSC2 TSC1 STK11 PRKAA2
12 thyroid cancer 30.0 TP53 PTEN CTNNB1 APC
13 squamous cell carcinoma 29.8 TP53 STK11 SMAD4 PTEN CTNNB1
14 cervical cancer 29.8 TP53 STK11 SMAD4 PTEN CTNNB1
15 cholangiocarcinoma 29.8 TP53 SMAD4 PTEN CTNNB1 APC
16 cowden disease 29.8 TSC2 TSC1 STK11 SMAD4 PTEN BRCA2
17 breast cancer 29.6 TP53 STK11 SMAD4 PTEN CYP19A1 CTNNB1
18 colorectal cancer 29.3 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
19 carney complex, type 1 11.7
20 polyposis syndrome, hereditary mixed, 1 11.4
21 cowden syndrome 1 11.4
22 ovarian cancer 11.4
23 bier spots 11.4
24 childhood ovarian cancer 11.4
25 familial stomach cancer 11.4
26 intussusception 11.0
27 sertoli cell tumor 10.7
28 gynecomastia 10.6
29 ovarian sex cord tumor with annular tubules 10.6
30 lentigines 10.6
31 carney complex variant 10.4
32 sex cord-gonadal stromal tumor 10.4
33 deficiency anemia 10.4
34 iron deficiency anemia 10.4
35 iron metabolism disease 10.4
36 pancreatitis 10.4
37 cervical adenoma malignum 10.4
38 intestinal obstruction 10.4
39 suppressor of tumorigenicity 3 10.3
40 gonadoblastoma 10.3
41 melanoma 10.3
42 acute pancreatitis 10.3
43 cystadenocarcinoma 10.3
44 ovarian gonadoblastoma 10.3
45 cervical adenocarcinoma 10.3
46 bilateral breast cancer 10.3
47 precocious puberty 10.3
48 angiolipoma 10.3
49 hyperplastic polyposis syndrome 10.2 TP53 APC
50 rectal neoplasm 10.2

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 47)
# 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 uterine neoplasm 32 HP:0010784
43 ovarian cyst 32 HP:0000138
44 clubbing of fingers 32 HP:0100759
45 clubbing 32 HP:0001217
46 intussusception 32 HP:0002576
47 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 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
2 cellular MP:0005384 10.34 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
3 endocrine/exocrine gland MP:0005379 10.32 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
4 growth/size/body region MP:0005378 10.31 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
5 homeostasis/metabolism MP:0005376 10.28 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
6 cardiovascular system MP:0005385 10.26 APC CTNNB1 CYP19A1 PTEN SMAD4 STK11
7 hematopoietic system MP:0005397 10.25 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
8 digestive/alimentary MP:0005381 10.24 APC BRCA2 CTNNB1 CYP19A1 PTEN PTPRH
9 embryo MP:0005380 10.24 APC BRCA2 CTNNB1 PTEN SMAD4 STK11
10 integument MP:0010771 10.21 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
11 immune system MP:0005387 10.18 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
12 nervous system MP:0003631 10.14 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN
13 liver/biliary system MP:0005370 10.13 APC CTNNB1 CYP19A1 PTEN SMAD4 STK11
14 neoplasm MP:0002006 10.13 APC BRCA2 CTNNB1 PTEN PTPRH SMAD4
15 muscle MP:0005369 10.11 APC CTNNB1 CYP19A1 PRKAA2 PTEN SMAD4
16 adipose tissue MP:0005375 10.02 APC CYP19A1 PRKAA2 PTEN TP53
17 normal MP:0002873 10.02 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
18 limbs/digits/tail MP:0005371 9.97 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
19 hearing/vestibular/ear MP:0005377 9.96 APC CTNNB1 CYP19A1 PRKAA2 TP53
20 renal/urinary system MP:0005367 9.96 APC CTNNB1 CYP19A1 PRKAA2 PTEN SMAD4
21 reproductive system MP:0005389 9.85 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
22 pigmentation MP:0001186 9.72 APC CTNNB1 CYP19A1 PTEN TP53
23 skeleton MP:0005390 9.56 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
24 vision/eye MP:0005391 9.17 APC CTNNB1 CYP19A1 PTEN STK11 TP53

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Secretin Approved Phase 1, Phase 2 108153-74-8
2
Pancrelipase Approved, Investigational Phase 1, Phase 2 53608-75-6
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
7 Gastrointestinal Agents Phase 1, Phase 2
8 Hormone Antagonists Phase 1, Phase 2
9 pancreatin Phase 1, Phase 2
10 Hormones Phase 1, Phase 2
11 Immunologic Factors Phase 2
12 Anti-Infective Agents Phase 2
13 Antifungal Agents Phase 2
14 Anti-Bacterial Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Immunosuppressive Agents Phase 2
17
Racepinephrine Approved 329-65-7 838
18
Epinephrine Approved, Vet_approved 51-43-4 5816
19
Metformin Approved 657-24-9 14219 4091
20
Serine Approved, Nutraceutical 56-45-1 5951
21 Epinephryl borate
22 Cola
23 Mitogens

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome Recruiting NCT03781050 Phase 4 Rapamycin
2 Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus
3 Secretin (ChiRhoStim) Pancreas Perfusion for Pancreatic Adenocarcinoma Terminated NCT00587132 Phase 1, Phase 2 Synthetic Human Secretin
4 Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome Withdrawn NCT01178151 Phase 2 Everolimus
5 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
6 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
7 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
8 Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study) Completed NCT00714701
9 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Completed NCT00040222
10 Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome Recruiting NCT03806075 Not Applicable
11 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
12 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
13 Pancreas Registry and High Risk Registry Recruiting NCT02775461
14 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
15 Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer Recruiting NCT03030404
16 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
17 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
18 Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation Study Active, not recruiting NCT01838577
19 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
20 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Enrolling by invitation NCT02703545

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, Small Intestine, Eye, Pancreas, Cervix, Lung, Thyroid

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 778)
# 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 very rare cause of iron deficiency anemia. ( 30040067 )
2018
17
Peutz-Jeghers Syndrome: A Circumventable Emergency. ( 29692461 )
2018
18
The patients with Peutz-Jeghers syndrome have a high risk of developing cancer. ( 30023987 )
2018
19
Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression. ( 30052520 )
2018
20
Metachronous triple cancer associated with Peutz-Jeghers syndrome treated with curative surgery: a case report. ( 30069736 )
2018
21
The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. ( 30092773 )
2018
22
Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature. ( 30148152 )
2018
23
Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits. ( 30327742 )
2018
24
Clinical and Genetic Study of children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation. ( 30334930 )
2018
25
Underwater endoscopic mucosal resection of a large jejunal polyp by single-balloon enteroscopy in a patient with Peutz-Jeghers syndrome. ( 30366812 )
2018
26
Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome. ( 30447145 )
2018
27
STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients. ( 30528796 )
2018
28
[Identification of a novel STK11 gene mutation in a family affected with hereditary Peutz-Jeghers syndrome]. ( 29419869 )
2018
29
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. ( 28869103 )
2017
30
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. ( 28231849 )
2017
31
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. ( 28900777 )
2017
32
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome. ( 28643501 )
2017
33
Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome. ( 28062068 )
2017
34
Small Bowel Intussusception in a 16-Month-Old Child With Peutz-Jeghers Syndrome. ( 28929791 )
2017
35
A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome. ( 28894521 )
2017
36
Triple site intussusceptions in Peutz-Jeghers syndrome. ( 28768368 )
2017
37
A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. ( 29245219 )
2017
38
Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis. ( 28560011 )
2017
39
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome. ( 28352323 )
2017
40
Peutz -Jeghers syndrome (PJS). ( 29168285 )
2017
41
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Paediatric Patients With PEUTZ-Jeghers Syndrome. ( 28319601 )
2017
42
Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. ( 28653895 )
2017
43
A novel mutation (c.855delG) in STK11 gene is associated with Peutz-Jeghers syndrome in a Chinese family. ( 29301733 )
2017
44
Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. ( 28489743 )
2017
45
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History. ( 28986664 )
2017
46
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
47
Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. ( 28445255 )
2017
48
Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. ( 28184053 )
2017
49
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
50
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. ( 28185117 )
2017

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 rs105752004

ClinVar genetic disease variations for Peutz-Jeghers Syndrome:

6 (show top 50) (show all 1327)
# 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.1062C> G (p.Phe354Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs59912467 GRCh37 Chromosome 19, 1223125: 1223125
31 STK11 NM_000455.4(STK11): c.1062C> G (p.Phe354Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs59912467 GRCh38 Chromosome 19, 1223126: 1223126
32 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh37 Chromosome 19, 1207081: 1207081
33 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh38 Chromosome 19, 1207082: 1207082
34 STK11 NM_000455.4(STK11): c.264C> A (p.Ile88=) single nucleotide variant Benign/Likely benign rs56354945 GRCh37 Chromosome 19, 1207176: 1207176
35 STK11 NM_000455.4(STK11): c.264C> A (p.Ile88=) single nucleotide variant Benign/Likely benign rs56354945 GRCh38 Chromosome 19, 1207177: 1207177
36 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh37 Chromosome 19, 1221962: 1221962
37 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh38 Chromosome 19, 1221963: 1221963
38 STK11 NM_000455.4(STK11): c.920+7G> C single nucleotide variant Benign rs2075607 GRCh37 Chromosome 19, 1222012: 1222012
39 STK11 NM_000455.4(STK11): c.920+7G> C single nucleotide variant Benign rs2075607 GRCh38 Chromosome 19, 1222013: 1222013
40 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh37 Chromosome 19, 1222983: 1222983
41 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh38 Chromosome 19, 1222984: 1222984
42 STK11 NM_000455.4(STK11): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs553752236 GRCh38 Chromosome 19, 1223109: 1223109
43 STK11 NM_000455.4(STK11): c.1045G> A (p.Glu349Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs553752236 GRCh37 Chromosome 19, 1223108: 1223108
44 STK11 NM_000455.4(STK11): c.1127A> C (p.Glu376Ala) single nucleotide variant Uncertain significance rs373888280 GRCh38 Chromosome 19, 1226472: 1226472
45 STK11 NM_000455.4(STK11): c.1127A> C (p.Glu376Ala) single nucleotide variant Uncertain significance rs373888280 GRCh37 Chromosome 19, 1226471: 1226471
46 STK11 NM_000455.4(STK11): c.1189G> T (p.Ala397Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780008 GRCh38 Chromosome 19, 1226534: 1226534
47 STK11 NM_000455.4(STK11): c.1189G> T (p.Ala397Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780008 GRCh37 Chromosome 19, 1226533: 1226533
48 STK11 NM_000455.4(STK11): c.1211C> T (p.Ser404Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200078204 GRCh38 Chromosome 19, 1226556: 1226556
49 STK11 NM_000455.4(STK11): c.1211C> T (p.Ser404Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200078204 GRCh37 Chromosome 19, 1226555: 1226555
50 STK11 NM_000455.4(STK11): c.1229C> T (p.Ala410Val) single nucleotide variant Uncertain significance rs372329880 GRCh38 Chromosome 19, 1226574: 1226574

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 APC CTNNB1 PRKAA2 PTEN SMAD4 STK11
2
Show member pathways
12.97 CTNNB1 PTEN SMAD4 TP53 TSC1 TSC2
3
Show member pathways
12.85 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
4
Show member pathways
12.76 APC CTNNB1 PRKAA2 PTEN STK11 TP53
5 12.72 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
6
Show member pathways
12.72 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
7
Show member pathways
12.71 BRCA2 PTEN TP53 TSC1 TSC2
8
Show member pathways
12.65 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
9
Show member pathways
12.62 APC CTNNB1 PTEN TP53
10
Show member pathways
12.48 APC CTNNB1 SMAD4 TP53
11
Show member pathways
12.45 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
12.33 PTEN TP53 TSC1 TSC2
17
Show member pathways
12.26 APC PRKAA2 PTEN STK11 TP53 TSC1
18
Show member pathways
12.16 PRKAA2 STK11 TSC1 TSC2
19
Show member pathways
12.14 PTEN TP53 TSC1 TSC2
20 12.14 APC CTNNB1 SMAD4 TP53
21 12.12 PTEN TP53 TSC1 TSC2
22 12.09 PTEN TP53 TSC1 TSC2
23 12.07 APC CTNNB1 SMAD4
24
Show member pathways
12.05 APC CTNNB1 TP53
25
Show member pathways
12.05 PRKAA2 TSC1 TSC2
26 12.05 APC CTNNB1 PRKAA2 TSC2
27
Show member pathways
12.05 PRKAA2 STK11 TP53 TSC1 TSC2
28
Show member pathways
12.03 CTNNB1 PTEN TSC2
29
Show member pathways
12.02 PRKAA2 PTEN SMAD4 STK11
30 12.01 CTNNB1 PRKAA2 TP53
31 12 APC CTNNB1 SMAD4
32 12 APC PTEN TP53 TSC2
33 11.97 CTNNB1 SMAD4 TP53
34 11.96 PRKAA2 PTEN STK11 TSC1 TSC2
35 11.92 CTNNB1 TP53 TSC2
36 11.88 PTEN SMAD4 TP53
37 11.86 APC CTNNB1 PTEN SMAD4 TP53
38 11.81 PTEN TSC1 TSC2
39 11.8 CTNNB1 PTEN SMAD4
40 11.7 PRKAA2 PTEN TP53 TSC1 TSC2
41 11.68 APC CTNNB1 PTEN TP53 TSC1 TSC2
42 11.62 CTNNB1 SMAD4 TP53
43 11.55 APC PTEN TP53
44 11.52 APC CTNNB1 TSC1 TSC2
45 11.46 BRCA2 CTNNB1 CYP19A1 PTEN SMAD4 STK11
46 11.34 APC PTEN TP53
47 11.22 APC CTNNB1 SMAD4
48 11.14 CYP19A1 TSC2
49 11.09 APC CTNNB1
50 11.06 SMAD4 STK11 STK11IP TP53 TSC1 TSC2

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 cell projection GO:0042995 9.8 APC CTNNB1 PTEN PTPRH TSC1
4 centrosome GO:0005813 9.76 APC BRCA2 CTNNB1 SMAD4
5 cytoplasm GO:0005737 9.73 APC BRCA2 CTNNB1 PRKAA2 PTEN PTPRH
6 microvillus membrane GO:0031528 9.43 CTNNB1 PTPRH
7 beta-catenin destruction complex GO:0030877 9.32 APC CTNNB1
8 Wnt signalosome GO:1990909 9.16 APC CTNNB1
9 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 9.85 APC CTNNB1 PTEN TP53
3 autophagy GO:0006914 9.8 PRKAA2 STK11 TP53
4 regulation of cell cycle GO:0051726 9.8 PTEN TSC1 TSC2
5 negative regulation of cell growth GO:0030308 9.77 SMAD4 STK11 TP53
6 cell proliferation GO:0008283 9.77 BRCA2 CTNNB1 PTEN SMAD4 TP53
7 protein deubiquitination GO:0016579 9.76 APC PTEN SMAD4 TP53
8 kidney development GO:0001822 9.74 CTNNB1 SMAD4 TSC1
9 response to estradiol GO:0032355 9.7 BRCA2 CTNNB1 PTEN
10 protein localization GO:0008104 9.65 STK11IP TP53 TSC2
11 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.64 STK11 TP53
12 vasculature development GO:0001944 9.64 CTNNB1 STK11
13 beta-catenin destruction complex disassembly GO:1904886 9.62 APC CTNNB1
14 cell fate specification GO:0001708 9.61 APC CTNNB1
15 gastrulation with mouth forming second GO:0001702 9.61 CTNNB1 SMAD4
16 canonical Wnt signaling pathway GO:0060070 9.61 CTNNB1 PTEN STK11
17 uterus development GO:0060065 9.6 CYP19A1 SMAD4
18 positive regulation of histone H3-K4 methylation GO:0051571 9.58 CTNNB1 SMAD4
19 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.58 PTEN TSC2
20 negative regulation of oxidative stress-induced neuron death GO:1903204 9.56 CTNNB1 TSC1
21 cell cycle arrest GO:0007050 9.56 APC PRKAA2 STK11 TP53
22 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.54 BRCA2 TP53
23 anoikis GO:0043276 9.51 STK11 TSC2
24 negative regulation of TOR signaling GO:0032007 9.5 PRKAA2 TSC1 TSC2
25 negative regulation of cell size GO:0045792 9.49 PTEN TSC1
26 prostate gland growth GO:0060736 9.4 CYP19A1 PTEN
27 positive regulation of macroautophagy GO:0016239 9.33 PRKAA2 TSC1 TSC2
28 negative regulation of cell proliferation GO:0008285 9.23 APC CTNNB1 PTEN SMAD4 STK11 TP53
29 female gonad development GO:0008585 9.13 BRCA2 CYP19A1 SMAD4

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 9.56 CTNNB1 PRKAA2 SMAD4 TP53
2 protein kinase binding GO:0019901 9.35 APC CTNNB1 PTEN STK11IP TP53
3 I-SMAD binding GO:0070411 9.16 CTNNB1 SMAD4
4 RNA polymerase II transcription factor binding GO:0001085 8.8 CTNNB1 SMAD4 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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