MCID: PTZ001
MIFTS: 70

Peutz-Jeghers Syndrome

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

Aliases & Classifications for Peutz-Jeghers Syndrome

MalaCards integrated aliases for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 53 12 72 23 49 24 55 71 36 28 13 51 41 14 69
Pjs 53 23 49 24 55 71
Polyposis, Hamartomatous Intestinal 53 72 49 24
Polyps-and-Spots Syndrome 53 49 24 71
Periorificial Lentiginosis Syndrome 49 24
Lentiginosis, Perioral 49 24
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 24
Peutz-Jeghers Polyp of Small Intestine 12
Peutz-Jeghers Small Bowel Hamartoma 12
Peutz-Jeghers Polyps of Small Bowel 69
Hamartomatous Intestinal Polyposis 55
Intestinal Hamartomatous Polyposis 71
Peutz-Jeghers Polyp of the Stomach 69
Colonic Hamartomatous Polyp 12
Gastric Peutz-Jeghers Polyp 12
Peutz Jeghers Colon Polyp 12
Polyposis, Intestinal, Ii 24
Polyps and Spots Syndrome 55
Peutz Jeghers Polyposis 49
Peutz-Jeghers Polyposis 24
Peutz Jeghers Polyp 12
Hamartomatous Polyp 69
Peutz Jehgers Polyp 69

Characteristics:

Orphanet epidemiological data:

55
peutz-jeghers syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

53
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:

23
Penetrance To date all reported individuals with pathogenic variants in stk11 have shown clinical manifestations...

Classifications:



Summaries for Peutz-Jeghers Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/15/2015

MalaCards based summary : Peutz-Jeghers Syndrome, also known as pjs, is related to polyposis syndrome, hereditary mixed, 1 and bannayan-riley-ruvalcaba syndrome, and has symptoms including abdominal pain, vomiting and abnormality of the gallbladder. 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, small intestine and pancreas, and related phenotypes are Decreased sensitivity to paclitaxel and Increased mitotic index

Genetics Home Reference : 24 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 : 53 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 : 71 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.

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 156)
# Related Disease Score Top Affiliating Genes
1 polyposis syndrome, hereditary mixed, 1 32.3 APC MUC6
2 bannayan-riley-ruvalcaba syndrome 32.2 PTEN STK11IP
3 pancreatic cancer 31.3 CTNNB1 MUC6 SMAD4 STK11 TP53
4 gastric cancer 31.3 APC CTNNB1 MUC6 PTEN SMAD4 TP53
5 anal squamous cell carcinoma 30.5 APC TP53
6 adenoma 30.5 APC CTNNB1 SMAD4 TP53
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.3 PTEN STK11 TSC1 TSC2
8 pancreas adenocarcinoma 30.3 CTNNB1 SMAD4 TP53
9 tuberous sclerosis 1 30.1 TSC1 TSC2
10 juvenile polyposis syndrome 30.0 APC PTEN SMAD4 STK11
11 familial adenomatous polyposis 29.8 APC CTNNB1 SMAD4 TP53
12 tuberous sclerosis 29.8 PRKAA2 STK11 TSC1 TSC2
13 thyroid cancer, nonmedullary, 1 29.7 APC CTNNB1 PTEN
14 cowden disease 29.4 PTEN SMAD4 STK11 TSC1 TSC2
15 breast cancer 28.4 APC CTNNB1 CYP19A1 PTEN SMAD4 STK11
16 carney complex, type 1 11.2
17 ovarian cancer 11.2
18 bier spots 11.2
19 childhood ovarian cancer 11.2
20 familial stomach cancer 11.2
21 intussusception 10.8
22 adenocarcinoma 10.7
23 sertoli cell tumor 10.6
24 pancreatitis 10.5
25 ovarian sex cord tumor with annular tubules 10.5
26 infant gynecomastia 10.5
27 gynecomastia 10.5
28 cervicitis 10.5
29 hyperplastic polyposis syndrome 10.4 APC TP53
30 synchronous bilateral breast carcinoma 10.4 PTEN TP53
31 lentigines 10.4
32 endocervicitis 10.4
33 duodenitis 10.3
34 hereditary breast ovarian cancer syndrome 10.3 PTEN STK11 TP53
35 testicular germ cell tumor 10.3 PTEN STK11 TP53
36 melanoma, cutaneous malignant 1 10.3 PTEN STK11 TP53
37 carney complex variant 10.3
38 thyroiditis 10.3
39 bladder squamous cell carcinoma 10.2 PTEN TP53
40 mutyh-associated polyposis 10.2 APC SMAD4 TP53
41 desmoid disease, hereditary 10.2 APC CTNNB1
42 episodic pain syndrome, familial, 1 10.2
43 gastric adenocarcinoma 10.2
44 cervical adenoma malignum 10.2
45 bilateral breast cancer 10.2
46 intestinal obstruction 10.2
47 gastroduodenitis 10.2
48 multilocular clear cell renal cell carcinoma 10.2 TSC1 TSC2
49 subependymal glioma 10.2 TSC1 TSC2
50 kidney angiomyolipoma 10.2 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:

53
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 Gastroin testinal:
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:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
2 vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002013
3 abnormality of the gallbladder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005264
4 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
5 intestinal obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0005214
6 multiple renal cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0005562
7 renal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0005584
8 gastrointestinal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0002239
9 rectal prolapse 55 31 occasional (7.5%) Occasional (29-5%) HP:0002035
10 breast carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0003002
11 neoplasm of the colon 55 31 occasional (7.5%) Occasional (29-5%) HP:0100273
12 abnormality of the ureter 55 31 occasional (7.5%) Occasional (29-5%) HP:0000069
13 multiple lentigines 55 31 hallmark (90%) Very frequent (99-80%) HP:0001003
14 gastrointestinal carcinoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002672
15 gastrointestinal infarctions 55 31 occasional (7.5%) Occasional (29-5%) HP:0005244
16 pancreatic adenocarcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0006725
17 enlarged polycystic ovaries 55 31 occasional (7.5%) Occasional (29-5%) HP:0008675
18 stomach cancer 55 31 occasional (7.5%) Occasional (29-5%) HP:0012126
19 neoplasm of the nose 55 31 occasional (7.5%) Occasional (29-5%) HP:0012720
20 cervix cancer 55 31 occasional (7.5%) Occasional (29-5%) HP:0030079
21 neoplasm of the lung 55 31 occasional (7.5%) Occasional (29-5%) HP:0100526
22 biliary tract neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100574
23 nasal polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100582
24 melanonychia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100644
25 abnormal pigmentation of the oral mucosa 55 31 hallmark (90%) Very frequent (99-80%) HP:0100669
26 neoplasm of the rectum 55 31 occasional (7.5%) Occasional (29-5%) HP:0100743
27 esophageal neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100751
28 neoplasm of the small intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0100833
29 macule 55 Very frequent (99-80%)
30 neoplasm 55 Occasional (29-5%)
31 abnormality of the mouth 31 HP:0000153
32 biliary tract abnormality 31 HP:0001080
33 iron deficiency anemia 31 HP:0001891
34 gynecomastia 31 HP:0000771
35 hypermelanotic macule 31 HP:0001034
36 neoplasm of the pancreas 31 HP:0002894
37 abnormality of the nose 55 Occasional (29-5%)
38 abnormality of the respiratory system 55 Occasional (29-5%)
39 abnormality of the gastrointestinal tract 55 Very frequent (99-80%)
40 hamartomatous polyposis 31 HP:0004390
41 intestinal bleeding 31 HP:0002584
42 ovarian cyst 31 HP:0000138
43 clubbing of fingers 31 HP:0100759
44 intussusception 31 HP:0002576
45 precocious puberty with sertoli cell tumor 31 HP:0008204

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 PTEN SMAD4
2 Increased mitotic index GR00110-A-0 9.13 PRKAA2 SMAD4 STK11
3 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 APC SMAD4 TSC1 TSC2

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

43 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 STK11 TSC1 TP53 TSC2 CTNNB1 APC
2 cellular MP:0005384 10.28 TP53 STK11 TSC1 TSC2 CTNNB1 APC
3 endocrine/exocrine gland MP:0005379 10.26 STK11 TSC1 TP53 TSC2 CTNNB1 APC
4 growth/size/body region MP:0005378 10.25 TP53 STK11 TSC1 TSC2 CYP19A1 CTNNB1
5 cardiovascular system MP:0005385 10.24 TP53 STK11 TSC1 TSC2 CTNNB1 APC
6 homeostasis/metabolism MP:0005376 10.21 TP53 STK11 TSC1 TSC2 CTNNB1 APC
7 digestive/alimentary MP:0005381 10.18 STK11 TP53 CTNNB1 APC CYP19A1 PTPRH
8 hematopoietic system MP:0005397 10.18 TP53 STK11 TSC2 CTNNB1 APC CYP19A1
9 embryo MP:0005380 10.17 TP53 STK11 TSC1 TSC2 CTNNB1 APC
10 integument MP:0010771 10.15 STK11 TSC1 TP53 TSC2 CTNNB1 APC
11 liver/biliary system MP:0005370 10.13 STK11 TSC1 TP53 TSC2 APC CYP19A1
12 muscle MP:0005369 10.11 STK11 TSC1 TP53 APC CYP19A1 CTNNB1
13 nervous system MP:0003631 10.1 TP53 STK11 TSC1 TSC2 CTNNB1 APC
14 neoplasm MP:0002006 10.09 TSC2 STK11 TSC1 TP53 APC CTNNB1
15 normal MP:0002873 9.97 TP53 STK11 TSC2 CYP19A1 CTNNB1 APC
16 renal/urinary system MP:0005367 9.96 TSC2 TSC1 TP53 APC CYP19A1 CTNNB1
17 hearing/vestibular/ear MP:0005377 9.93 TP53 CTNNB1 APC CYP19A1 PRKAA2
18 reproductive system MP:0005389 9.81 STK11 TSC1 TP53 TSC2 CTNNB1 APC
19 pigmentation MP:0001186 9.72 TP53 CYP19A1 CTNNB1 APC PTEN
20 skeleton MP:0005390 9.5 TP53 TSC1 CTNNB1 APC SMAD4 CYP19A1
21 vision/eye MP:0005391 9.17 TP53 STK11 TSC1 CTNNB1 APC CYP19A1

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 46835353 6436030 5284616
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
18 Epinephryl borate
19 Mitogens
20 serine Nutraceutical

Interventional clinical trials:

(show all 17)

# 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
17 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 28 STK11

Anatomical Context for Peutz-Jeghers Syndrome

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

38
Colon, Small Intestine, Pancreas, Eye, Cervix, Lung, Ovary

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 609)
# Title Authors Year
1
Two novel<i>STK11</i>missense mutations induce phosphorylation of S6K and promote cell proliferation in Peutz-Jeghers syndrome. ( 29399144 )
2018
2
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
3
Chemoprevention in Patients with Peutz-Jeghers Syndrome: Lessons Learned. ( 29371475 )
2018
4
Safety and efficacy of small bowel polypectomy using a balloon-assisted enteroscope in pediatric patients with Peutz-Jeghers syndrome. ( 29449094 )
2018
5
Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry. ( 29310834 )
2018
6
Small Bowel Intussusception in a 16-Month-Old Child With Peutz-Jeghers Syndrome. ( 28929791 )
2017
7
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome. ( 28352323 )
2017
8
Unusual ultrasound appearance of small bowel intussusception and secondary bowel obstruction in a child with Peutz-Jeghers syndrome. ( 28314199 )
2017
9
A novel mutation (c.855delG) in STK11 gene is associated with Peutz-Jeghers syndrome in a Chinese family. ( 29301733 )
2017
10
Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. ( 28489743 )
2017
11
A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History. ( 28986664 )
2017
12
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. ( 28900777 )
2017
13
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. ( 28231849 )
2017
14
Peutz -Jeghers syndrome (PJS). ( 29168285 )
2017
15
Triple site intussusceptions in Peutz-Jeghers syndrome. ( 28768368 )
2017
16
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome. ( 28643501 )
2017
17
Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. ( 28445255 )
2017
18
A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome. ( 28894521 )
2017
19
Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis. ( 28560011 )
2017
20
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Paediatric Patients With PEUTZ-Jeghers Syndrome. ( 28319601 )
2017
21
Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome. ( 28062068 )
2017
22
A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. ( 29245219 )
2017
23
Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. ( 28184053 )
2017
24
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. ( 28185117 )
2017
25
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. ( 28869103 )
2017
26
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
27
Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. ( 28653895 )
2017
28
A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. ( 28391433 )
2017
29
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
30
Bowel obstruction involving capsule endoscopy in a patient with Peutz-Jeghers syndrome. ( 28684031 )
2017
31
Aberrant expression of Sonic hedgehog signaling in Peutz-Jeghers syndrome. ( 26997450 )
2016
32
A Clinical and Molecular Genetic Study in 11 Chinese Children with Peutz-Jeghers syndrome. ( 27467201 )
2016
33
Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome. ( 27721366 )
2016
34
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
35
Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene. ( 27081568 )
2016
36
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. ( 26877140 )
2016
37
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome. ( 27821076 )
2016
38
Laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis for Peutz-Jeghers syndrome with synchronous rectal cancer. ( 27298573 )
2016
39
Successful Pancreatic Duct Stent Placement for Recurrent Pancreatitis in a Patient with Polysplenia with Agenesis of the Dorsal Pancreas and Peutz-Jeghers Syndrome. ( 27374675 )
2016
40
Disseminated plantar lentigines associated with Peutz-Jeghers syndrome. ( 27173455 )
2016
41
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
42
Non-Peutz-Jeghers syndrome-associated ovarian sex cord tumor with annular tubules: Report of a malignant case. ( 26807963 )
2016
43
[Mutations of the STK11 and FHIT genes among patients with Peutz-Jeghers syndrome]. ( 27060312 )
2016
44
Multiple Intussusceptions in Peutz-Jeghers Syndrome: Detection through Multidetector Computerized Tomography Enterography. ( 27270555 )
2016
45
RESPONSE TO THE ANASTROZOLE TREATMENT IN A CASE WITH PEUTZ-JEGHERS SYNDROME WHO WAS DETECTED TO HAVE LARGE CELL CALCIFYING SERTOLI CELL TUMOR AND DEVELOPED PRE-PUBERTAL GYNECOMASTIA. ( 27873740 )
2016
46
Peutz-Jeghers syndrome: Four cases in one family. ( 26989648 )
2016
47
The usefulness of cold polypectomy for the small bowel polyps in Peutz-Jeghers syndrome. ( 27061809 )
2016
48
Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. ( 27241107 )
2016
49
Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan. ( 26746637 )
2016
50
Seven-Year Follow-Up of Peutz-Jeghers Syndrome. ( 27195155 )
2016

Variations for Peutz-Jeghers Syndrome

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

71
# 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 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh37 Chromosome 19, 1207081: 1207081
2 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh37 Chromosome 19, 1221962: 1221962
3 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh37 Chromosome 19, 1222983: 1222983
4 STK11 NM_000455.4(STK11): c.908T> G (p.Ile303Ser) single nucleotide variant Likely pathogenic rs727504171 GRCh38 Chromosome 19, 1221994: 1221994
5 STK11 NM_000455.4(STK11): c.921-2A> T single nucleotide variant Pathogenic rs727504172 GRCh37 Chromosome 19, 1222982: 1222982
6 STK11 NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs) duplication Pathogenic rs786200991 GRCh37 Chromosome 19, 1223051: 1223051
7 STK11 NM_000455.4(STK11): c.526G> A (p.Asp176Asn) single nucleotide variant Pathogenic/Likely pathogenic rs730881979 GRCh38 Chromosome 19, 1220434: 1220434
8 STK11 NM_000455.4(STK11): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic/Likely pathogenic rs786201090 GRCh37 Chromosome 19, 1221995: 1221995
9 STK11 NM_000455.4(STK11): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
10 STK11 NM_000455.4(STK11): c.842delC (p.Pro281Argfs) deletion Pathogenic rs121913321 GRCh38 Chromosome 19, 1221320: 1221320
11 STK11 NM_000455.4(STK11): c.844dupC (p.Leu282Profs) duplication Pathogenic rs786205864 GRCh37 Chromosome 19, 1221321: 1221321
12 STK11 STK11, EX4-5DEL/EX6-7INV deletion Pathogenic
13 STK11 NM_000455.4(STK11): c.759C> A (p.Tyr253Ter) single nucleotide variant Pathogenic rs137853075 GRCh37 Chromosome 19, 1221236: 1221236
14 STK11 NM_000455.4(STK11): c.843delG (p.Leu282Serfs) deletion Pathogenic rs587776656 GRCh38 Chromosome 19, 1221321: 1221321
15 STK11 NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs) deletion Pathogenic rs587776657 GRCh38 Chromosome 19, 1220701: 1220704
16 STK11 NM_000455.4(STK11): c.465-1G> A single nucleotide variant Pathogenic rs587776658 GRCh38 Chromosome 19, 1220372: 1220372
17 STK11 NM_000455.4(STK11): c.250A> T (p.Lys84Ter) single nucleotide variant Pathogenic rs137853076 GRCh37 Chromosome 19, 1207162: 1207162
18 STK11 NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs) deletion Pathogenic rs587776659 GRCh38 Chromosome 19, 1221312: 1221313
19 STK11 NM_000455.4(STK11): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853077 GRCh37 Chromosome 19, 1207112: 1207112
20 STK11 NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn) deletion Pathogenic rs587776660 GRCh38 Chromosome 19, 1221994: 1222002
21 STK11 NM_000455.4(STK11): c.169G> T (p.Glu57Ter) single nucleotide variant Pathogenic rs137854584 GRCh37 Chromosome 19, 1207081: 1207081
22 STK11 NM_000455.4(STK11): c.418delC (p.Leu140Trpfs) deletion Pathogenic rs397518440 GRCh37 Chromosome 19, 1219366: 1219366
23 STK11 NM_000455.4(STK11): c.197dupT (p.Leu67Alafs) duplication Pathogenic rs397518441 GRCh37 Chromosome 19, 1207109: 1207109
24 STK11 NM_000455.4(STK11): c.717G> C (p.Trp239Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853082 GRCh37 Chromosome 19, 1220699: 1220699
25 STK11 NM_000455.4(STK11): c.891delG (p.Arg297Serfs) deletion Pathogenic rs587776661 GRCh37 Chromosome 19, 1221976: 1221976
26 STK11 NM_000455.4(STK11): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs137853083 GRCh37 Chromosome 19, 1221215: 1221215
27 STK11 NM_000455.4(STK11): c.719C> A (p.Ser240Ter) single nucleotide variant Pathogenic rs730881976 GRCh38 Chromosome 19, 1220702: 1220702
28 STK11 NM_000455.4(STK11): c.863-1G> A single nucleotide variant Likely pathogenic rs863224448 GRCh38 Chromosome 19, 1221948: 1221948
29 STK11 NM_000455.4(STK11): c.394delT (p.Cys132Alafs) deletion Pathogenic rs864622707 GRCh38 Chromosome 19, 1219343: 1219343
30 STK11 NM_000455.4(STK11): c.923G> T (p.Trp308Leu) single nucleotide variant Likely pathogenic rs864622488 GRCh38 Chromosome 19, 1222987: 1222987
31 STK11 NM_000455.4(STK11): c.709G> T (p.Asp237Tyr) single nucleotide variant Likely pathogenic rs878853247 GRCh37 Chromosome 19, 1220691: 1220691
32 STK11 NM_000455.4(STK11): c.-1115_*16+?del deletion Pathogenic GRCh38 Chromosome 19, 1205799: 1226663
33 STK11 NM_000455.4(STK11): c.-1115-?_290+?del deletion Pathogenic
34 STK11 NM_000455.4(STK11): c.541A> G (p.Asn181Asp) single nucleotide variant Likely pathogenic rs886037926 GRCh38 Chromosome 19, 1220449: 1220449
35 STK11 NM_000455.4(STK11): c.542A> G (p.Asn181Ser) single nucleotide variant Likely pathogenic rs886037859 GRCh37 Chromosome 19, 1220449: 1220449
36 STK11 NC_000019.10: g.(?_1206908)_(1226652_?)del deletion Pathogenic GRCh38 Chromosome 19, 1206908: 1226652
37 STK11 NM_000455.4(STK11): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913324 GRCh37 Chromosome 19, 1207021: 1207021
38 STK11 NM_000455.4(STK11): c.644G> A (p.Gly215Asp) single nucleotide variant Likely pathogenic rs1057520038 GRCh37 Chromosome 19, 1220626: 1220626
39 STK11 NM_000455.4(STK11): c.323A> G (p.Lys108Arg) single nucleotide variant Likely pathogenic rs1057520040 GRCh37 Chromosome 19, 1218448: 1218448
40 STK11 NM_000455.4(STK11): c.530T> A (p.Ile177Asn) single nucleotide variant Likely pathogenic rs1057520041 GRCh37 Chromosome 19, 1220437: 1220437
41 STK11 NM_000455.4(STK11): c.924G> C (p.Trp308Cys) single nucleotide variant Likely pathogenic rs1057520042 GRCh37 Chromosome 19, 1222987: 1222987
42 STK11 NC_000019.10: g.(?_1218417)_(1219413_?)del deletion Pathogenic GRCh37 Chromosome 19, 1218416: 1219412
43 STK11 NC_000019.10: g.(?_1218417)_(1223172_?)del deletion Pathogenic GRCh37 Chromosome 19, 1218416: 1223171
44 STK11 NM_000455.4(STK11): c.935_936delAA (p.Lys312Thrfs) deletion Pathogenic rs1060499962 GRCh38 Chromosome 19, 1222999: 1223000
45 STK11 NM_000455.4(STK11): c.842dupC (p.Leu282Alafs) duplication Pathogenic rs121913321 GRCh38 Chromosome 19, 1221320: 1221320
46 STK11 NC_000019.10: g.(?_1221949)_(1222006_?)del deletion Pathogenic GRCh38 Chromosome 19, 1221949: 1222006
47 STK11 NM_000455.4(STK11): c.129delC (p.Lys44Serfs) deletion Pathogenic rs1060499961 GRCh38 Chromosome 19, 1207042: 1207042
48 STK11 NM_000455.4(STK11): c.989_996delACCGGTGG (p.Asp330Alafs) deletion Pathogenic rs1060499960 GRCh38 Chromosome 19, 1223053: 1223060
49 STK11 NM_000455.4(STK11): c.180C> A (p.Tyr60Ter) single nucleotide variant Pathogenic rs778376925 GRCh38 Chromosome 19, 1207093: 1207093
50 STK11 NM_000455.4(STK11): c.180C> G (p.Tyr60Ter) single nucleotide variant Pathogenic rs778376925 GRCh37 Chromosome 19, 1207092: 1207092

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:

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 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 APC CTNNB1 PRKAA2 PTEN SMAD4 STK11
2
Show member pathways
12.94 APC CTNNB1 PTEN SMAD4 TP53 TSC1
3
Show member pathways
12.87 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
4
Show member pathways
12.79 APC CTNNB1 PRKAA2 PTEN STK11 TP53
5 12.75 APC CTNNB1 PTEN SMAD4 TP53
6
Show member pathways
12.69 APC CTNNB1 PTEN SMAD4 TP53
7
Show member pathways
12.62 APC CTNNB1 PTEN TP53
8
Show member pathways
12.49 CTNNB1 PTEN SMAD4 TP53
9
Show member pathways
12.47 APC CTNNB1 SMAD4 TP53
10
Show member pathways
12.44 PRKAA2 PTEN TSC1 TSC2
11 12.42 CYP19A1 PRKAA2 PTEN STK11 TSC2
12 12.35 APC CTNNB1 SMAD4 TP53
13
Show member pathways
12.34 PRKAA2 STK11 TSC1 TSC2
14
Show member pathways
12.34 PRKAA2 STK11 TP53 TSC1 TSC2
15
Show member pathways
12.33 APC PRKAA2 PTEN STK11 TP53 TSC1
16
Show member pathways
12.32 PTEN TP53 TSC1 TSC2
17
Show member pathways
12.15 PRKAA2 STK11 TSC1 TSC2
18
Show member pathways
12.14 PTEN TP53 TSC1 TSC2
19 12.13 APC CTNNB1 SMAD4 TP53
20 12.11 PTEN TP53 TSC1 TSC2
21 12.06 APC CTNNB1 SMAD4
22
Show member pathways
12.05 PRKAA2 TSC1 TSC2
23 12.05 APC CTNNB1 PRKAA2 TSC2
24
Show member pathways
12.05 PRKAA2 STK11 TP53 TSC1 TSC2
25
Show member pathways
12.03 CTNNB1 PTEN TSC2
26
Show member pathways
12.02 PRKAA2 PTEN SMAD4 STK11
27 12 CTNNB1 PRKAA2 TP53
28 12 APC CTNNB1 SMAD4
29 11.99 APC PTEN TP53 TSC2
30 11.96 PRKAA2 PTEN STK11 TSC1 TSC2
31 11.92 CTNNB1 TP53 TSC2
32 11.89 APC CTNNB1 PTEN SMAD4 TP53
33 11.87 PTEN SMAD4 TP53
34 11.85 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
35 11.8 PTEN TSC1 TSC2
36 11.79 CTNNB1 PTEN SMAD4
37 11.73 PRKAA2 PTEN TP53 TSC1 TSC2
38 11.68 APC CTNNB1 PTEN TP53 TSC1 TSC2
39 11.54 APC PTEN TP53
40 11.52 APC CTNNB1 TSC1 TSC2
41 11.41 CTNNB1 CYP19A1 PTEN SMAD4 STK11 TP53
42 11.34 APC PTEN TP53
43 11.21 APC CTNNB1 SMAD4
44 11.08 APC CTNNB1
45 11.06 SMAD4 STK11 STK11IP TP53 TSC1 TSC2
46 11.04 PTEN SMAD4
47 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 microvillus membrane GO:0031528 9.37 CTNNB1 PTPRH
2 beta-catenin destruction complex GO:0030877 9.26 APC CTNNB1
3 catenin complex GO:0016342 9.16 APC CTNNB1
4 Wnt signalosome GO:1990909 8.96 APC CTNNB1
5 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2
6 cytoplasm GO:0005737 10.06 APC CTNNB1 PRKAA2 PTEN PTPRH SMAD4

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.89 CTNNB1 PTEN SMAD4 TP53
2 positive regulation of apoptotic process GO:0043065 9.84 APC CTNNB1 PTEN TP53
3 autophagy GO:0006914 9.8 PRKAA2 STK11 TP53
4 regulation of signal transduction by p53 class mediator GO:1901796 9.78 PRKAA2 STK11 TP53
5 regulation of cell cycle GO:0051726 9.77 PTEN TSC1 TSC2
6 negative regulation of cell growth GO:0030308 9.73 SMAD4 STK11 TP53
7 protein deubiquitination GO:0016579 9.73 APC PTEN SMAD4 TP53
8 kidney development GO:0001822 9.7 CTNNB1 SMAD4 TSC1
9 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.63 SMAD4 STK11
10 female gonad development GO:0008585 9.62 CYP19A1 SMAD4
11 vasculature development GO:0001944 9.62 CTNNB1 STK11
12 beta-catenin destruction complex disassembly GO:1904886 9.61 APC CTNNB1
13 gastrulation with mouth forming second GO:0001702 9.58 CTNNB1 SMAD4
14 positive regulation of histone H3-K4 methylation GO:0051571 9.58 CTNNB1 SMAD4
15 protein localization GO:0008104 9.58 STK11IP TP53 TSC2
16 uterus development GO:0060065 9.57 CYP19A1 SMAD4
17 response to inorganic substance GO:0010035 9.55 PTEN TP53
18 negative regulation of oxidative stress-induced neuron death GO:1903204 9.51 CTNNB1 TSC1
19 negative regulation of TOR signaling GO:0032007 9.5 PRKAA2 TSC1 TSC2
20 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.49 PTEN TSC2
21 anoikis GO:0043276 9.48 STK11 TSC2
22 negative regulation of cell size GO:0045792 9.46 PTEN TSC1
23 canonical Wnt signaling pathway GO:0060070 9.46 APC CTNNB1 PTEN STK11
24 positive regulation of macroautophagy GO:0016239 9.43 PRKAA2 TSC1 TSC2
25 cell cycle arrest GO:0007050 9.43 APC PRKAA2 STK11 TP53 TSC1 TSC2
26 prostate gland growth GO:0060736 9.37 CYP19A1 PTEN
27 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 9.56 CTNNB1 PRKAA2 SMAD4 TP53
2 I-SMAD binding GO:0070411 9.16 CTNNB1 SMAD4
3 RNA polymerase II transcription factor binding GO:0001085 9.13 CTNNB1 SMAD4 TP53
4 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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