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 54 12 72 23 50 24 25 56 71 29 13 52 42 14 69
Pjs 23 50 24 25 56 71
Polyps-and-Spots Syndrome 50 25 71
Periorificial Lentiginosis Syndrome 50 25
Polyposis, Hamartomatous Intestinal 50 25
Hamartomatous Intestinal Polyposis 24 56
Lentiginosis, Perioral 50 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 69
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 25
Polyps and Spots Syndrome 56
Peutz Jeghers Polyposis 50
Peutz-Jeghers Polyposis 25
Peutz Jeghers Polyp 12
Hamartomatous Polyp 69
Peutz Jehgers Polyp 69

Characteristics:

Orphanet epidemiological data:

56
peutz-jeghers syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

54
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:

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 : 50 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 gastric cancer, somatic and endocervicitis, and has symptoms including anemia, vomiting and abdominal pain. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways/superpathways are ERK Signaling and Regulation of TP53 Activity. 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

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.

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 : 54
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)

Wikipedia : 72 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)
id Related Disease Score Top Affiliating Genes
1 gastric cancer, somatic 31.8 APC CTNNB1 TP53
2 endocervicitis 31.2 BRCA2 TP53
3 papilloma 29.5 CTNNB1 MUC6
4 colorectal cancer 26.9 APC BRCA2 CTNNB1 MUC6 PTEN SMAD4
5 pancreatic cancer 11.5
6 hereditary mixed polyposis syndrome 1 11.2
7 familial stomach cancer 11.1
8 ovarian cancer, somatic 11.1
9 bannayan-riley-ruvalcaba syndrome 11.1
10 stomach cancer 11.1
11 bier spots 11.1
12 carney complex, type 1 11.1
13 childhood ovarian cancer 11.1
14 intussusception 10.8
15 adenocarcinoma 10.7
16 coloboma of inferior eyelid 10.6 APC TP53
17 rectum squamous cell carcinoma 10.6 APC TP53
18 sertoli cell tumor 10.5
19 buschke-ollendorff syndrome 10.5 TSC1 TSC2
20 adenoma 10.5
21 prostate cancer, hereditary, x-linked 1 10.5 PTEN STK11 TP53
22 dubin-johnson syndrome 10.5 PTEN STK11 TP53
23 glycogen storage disease due to lactate dehydrogenase deficiency 10.5 CTNNB1 TP53
24 anencephaly 10.5 APC CTNNB1
25 pancreatitis 10.5
26 focal cortical dysplasia, type ii, somatic 10.5 TSC1 TSC2
27 clear cell adenocarcinoma 10.4 TSC1 TSC2
28 thai symphalangism syndrome 10.4 BRCA2 TP53
29 ovarian sex cord tumor with annular tubules 10.4
30 cauda equina intradural extramedullary astrocytoma 10.4 TSC1 TSC2
31 glioma susceptibility 2 10.4 PTEN SMAD4
32 gynecomastia 10.4
33 colloid adenoma 10.4 TSC1 TSC2
34 microphthalmia/anophthalmia/coloboma spectrum 10.4 APC SMAD4 TP53
35 cervicitis 10.4
36 spontaneous intracranial hypotension 10.4 BRCA2 SMAD4
37 myelinoclastic diffuse sclerosis 10.4 PTEN STK11 TSC1
38 lymphoplasmacytic lymphoma 10.4 PTEN TP53 TSC2
39 cauda equina neoplasm 10.4 TSC1 TSC2
40 breast pericanalicular fibroadenoma 10.4 BRCA2 TP53
41 extracranial neuroblastoma 10.3 BRCA2 TP53
42 desmoplastic small round cell tumor 10.3 APC CTNNB1
43 breast cancer 10.3
44 diabetes mellitus, insulin-dependent, 20 10.3 APC CTNNB1
45 breast myoepithelial neoplasm 10.3 CTNNB1 PTEN TP53
46 lymphangioleiomyomatosis 10.3 TSC1 TSC2
47 retinal detachment 10.3 BRCA2 TP53
48 chest wall lymphoma 10.3 BRCA2 PTEN TP53
49 split-hand/foot malformation 4 10.3 CTNNB1 PTEN TP53
50 rectum kaposi's sarcoma 10.3 CTNNB1 PTEN TP53

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:

54

Skeletal- Hands:
clubbing of fingers

Head And Neck- Nose:
nasal polyps

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

Neoplasia:
pancreatic cancer
thyroid cancer
gastrointestinal carcinoma
breast cancer (ductal)
lung
more
Abdomen- Gastroin testinal:
rectal prolapse
intussusception
intestinal bleeding
hamartomatous polyps (stomach to rectum)
recurrent colicky abdominal pain

Hematology:
iron deficiency anemia

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:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
2 vomiting 56 32 occasional (7.5%) Occasional (29-5%) HP:0002013
3 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
4 pancreatic adenocarcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006725
5 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
6 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
7 breast carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0003002
8 nasal polyposis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100582
9 rectal prolapse 56 32 occasional (7.5%) Occasional (29-5%) HP:0002035
10 multiple lentigines 56 32 hallmark (90%) Very frequent (99-80%) HP:0001003
11 gastrointestinal hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0002239
12 gastrointestinal carcinoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002672
13 enlarged polycystic ovaries 56 32 occasional (7.5%) Occasional (29-5%) HP:0008675
14 gastrointestinal infarctions 56 32 occasional (7.5%) Occasional (29-5%) HP:0005244
15 abnormality of the gallbladder 56 32 occasional (7.5%) Occasional (29-5%) HP:0005264
16 renal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0005584
17 neoplasm of the colon 56 32 occasional (7.5%) Occasional (29-5%) HP:0100273
18 abnormality of the ureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000069
19 stomach cancer 56 32 occasional (7.5%) Occasional (29-5%) HP:0012126
20 neoplasm of the nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0012720
21 cervix cancer 56 32 occasional (7.5%) Occasional (29-5%) HP:0030079
22 neoplasm of the lung 56 32 occasional (7.5%) Occasional (29-5%) HP:0100526
23 biliary tract neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100574
24 melanonychia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100644
25 abnormal pigmentation of the oral mucosa 56 32 hallmark (90%) Very frequent (99-80%) HP:0100669
26 neoplasm of the rectum 56 32 occasional (7.5%) Occasional (29-5%) HP:0100743
27 esophageal neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100751
28 neoplasm of the small intestine 56 32 occasional (7.5%) Occasional (29-5%) HP:0100833
29 clubbing of fingers 32 HP:0100759
30 gynecomastia 32 HP:0000771
31 intussusception 32 HP:0002576
32 iron deficiency anemia 32 HP:0001891
33 intestinal bleeding 32 HP:0002584
34 precocious puberty with sertoli cell tumor 32 HP:0008204
35 neoplasm 56 Occasional (29-5%)
36 abnormality of the mouth 32 HP:0000153
37 biliary tract abnormality 32 HP:0001080
38 macule 56 Very frequent (99-80%)
39 hypermelanotic macule 32 HP:0001034
40 neoplasm of the pancreas 32 HP:0002894
41 abnormality of the nose 56 Occasional (29-5%)
42 abnormality of the respiratory system 56 Occasional (29-5%)
43 abnormality of the gastrointestinal tract 56 Very frequent (99-80%)
44 hamartomatous polyposis 32 HP:0004390
45 ovarian cyst 32 HP:0000138

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

26
id 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 9.02 APC BRCA2 SMAD4 TSC1 TSC2

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

44 (show all 23)
id 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 BRCA2 CTNNB1 CYP19A1 PRKAA2 PTEN SMAD4
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 BRCA2 CTNNB1 PTEN SMAD4 STK11 TP53
10 integument MP:0010771 10.21 TP53 TSC1 TSC2 APC BRCA2 CTNNB1
11 nervous system MP:0003631 10.14 PTEN SMAD4 STK11 TP53 TSC1 TSC2
12 immune system MP:0005387 10.13 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
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 TP53 TSC1 APC CTNNB1 CYP19A1 PRKAA2
16 normal MP:0002873 10.02 CYP19A1 PTEN SMAD4 STK11 TP53 TSC2
17 limbs/digits/tail MP:0005371 9.97 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
18 hearing/vestibular/ear MP:0005377 9.96 TP53 APC CTNNB1 CYP19A1 PRKAA2
19 renal/urinary system MP:0005367 9.96 APC CTNNB1 CYP19A1 PRKAA2 PTEN SMAD4
20 reproductive system MP:0005389 9.85 APC BRCA2 CTNNB1 CYP19A1 PTEN SMAD4
21 pigmentation MP:0001186 9.72 APC CTNNB1 CYP19A1 PTEN TP53
22 skeleton MP:0005390 9.56 PTEN SMAD4 TP53 TSC1 APC BRCA2
23 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 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved 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
18 Epinephryl borate
19 Mitogens
20 serine Nutraceutical

Interventional clinical trials:

(show all 17)

id 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 Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) Completed NCT00668291
6 Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study) Completed NCT00714701
7 Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex Recruiting NCT00001452
8 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
9 Pancreas Registry and High Risk Registry Recruiting NCT02775461
10 Hereditary Colorectal and Associated Tumor Registry Study Recruiting NCT00633607
11 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
12 Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation Study Recruiting NCT01838577
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 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632
16 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222
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:

id Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome 29 24 STK11

Anatomical Context for Peutz-Jeghers Syndrome

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

39
Colon, Small Intestine, Pancreas, Eye, Cervix, Lung, Ovary

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 598)
id Title Authors Year
1
Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. ( 28653895 )
2017
2
Unusual ultrasound appearance of small bowel intussusception and secondary bowel obstruction in a child with Peutz-Jeghers syndrome. ( 28314199 )
2017
3
Small Bowel Intussusception in a 16-Month-Old Child With Peutz-Jeghers Syndrome. ( 28929791 )
2017
4
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome. ( 28352323 )
2017
5
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Paediatric Patients With PEUTZ-Jeghers Syndrome. ( 28319601 )
2017
6
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
7
Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome. ( 28062068 )
2017
8
Triple site intussusceptions in Peutz-Jeghers syndrome. ( 28768368 )
2017
9
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome. ( 28643501 )
2017
10
Peutz-Jeghers syndrome with early onset of pre-adolescent gynecomastia: a predigree case report and clinical and molecular genetic analysis. ( 28560011 )
2017
11
Bowel obstruction involving capsule endoscopy in a patient with Peutz-Jeghers syndrome. ( 28684031 )
2017
12
Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz-Jeghers syndrome. ( 28869103 )
2017
13
A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. ( 28391433 )
2017
14
A Large Intracolonic Mass in a Patient with Peutz-Jeghers Syndrome. ( 28894521 )
2017
15
Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. ( 28184053 )
2017
16
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. ( 28185117 )
2017
17
Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. ( 28445255 )
2017
18
Narrow-band imaging endoscopy is advantageous over conventional white light endoscopy for the diagnosis and treatment of children with Peutz-Jeghers syndrome. ( 28489743 )
2017
19
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. ( 28231849 )
2017
20
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. ( 28900777 )
2017
21
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
22
Case Report: Spleen-preserving Multivisceral Transplant for Peutz-Jeghers Syndrome. ( 27109998 )
2016
23
Recurrent ovarian Sertoli-Leydig cell tumor in a child with Peutz-Jeghers syndrome. ( 28101370 )
2016
24
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. ( 26877140 )
2016
25
A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome. ( 27550049 )
2016
26
The usefulness of cold polypectomy for the small bowel polyps in Peutz-Jeghers syndrome. ( 27061809 )
2016
27
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
28
Non-Peutz-Jeghers syndrome-associated ovarian sex cord tumor with annular tubules: Report of a malignant case. ( 26807963 )
2016
29
Peutz-Jeghers syndrome: Four cases in one family. ( 26989648 )
2016
30
[Mutations of the STK11 and FHIT genes among patients with Peutz-Jeghers syndrome]. ( 27060312 )
2016
31
Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. ( 27241107 )
2016
32
Multiple Intussusceptions in Peutz-Jeghers Syndrome: Detection through Multidetector Computerized Tomography Enterography. ( 27270555 )
2016
33
Giant rectal polyp prolapse in an adult patient with the Peutz-Jeghers syndrome. ( 27444139 )
2016
34
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome. ( 27821076 )
2016
35
Aberrant expression of Sonic hedgehog signaling in Peutz-Jeghers syndrome. ( 26997450 )
2016
36
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
37
Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan. ( 26746637 )
2016
38
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
39
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
40
Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome. ( 27721366 )
2016
41
Peutz-Jeghers syndrome complicated with small bowel intussusception managed by laparoscopy-assisted transoral single-balloon enteroscopy. ( 27352980 )
2016
42
Disease pattern in Danish patients with Peutz-Jeghers syndrome. ( 26979979 )
2016
43
Laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis for Peutz-Jeghers syndrome with synchronous rectal cancer. ( 27298573 )
2016
44
A Clinical and Molecular Genetic Study in 11 Chinese Children with Peutz-Jeghers syndrome. ( 27467201 )
2016
45
Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant. ( 27004004 )
2016
46
Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy. ( 27404294 )
2016
47
Disseminated plantar lentigines associated with Peutz-Jeghers syndrome. ( 27173455 )
2016
48
Seven-Year Follow-Up of Peutz-Jeghers Syndrome. ( 27195155 )
2016
49
Acute intussusception and polyp with malignant transformation in Peutz-Jeghers syndrome: A case report. ( 26622615 )
2015
50
Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations and No Evidence of Malignancy During 14 Years Follow Up. ( 26756003 )
2015

Variations for Peutz-Jeghers Syndrome

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

71
id 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 all 47)
id 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.843delG (p.Leu282Serfs) deletion Pathogenic rs587776656 GRCh38 Chromosome 19, 1221321: 1221321
4 STK11 NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs) deletion Pathogenic rs587776657 GRCh38 Chromosome 19, 1220701: 1220704
5 STK11 NM_000455.4(STK11): c.465-1G> A single nucleotide variant Pathogenic rs587776658 GRCh38 Chromosome 19, 1220372: 1220372
6 STK11 NM_000455.4(STK11): c.250A> T (p.Lys84Ter) single nucleotide variant Pathogenic rs137853076 GRCh37 Chromosome 19, 1207162: 1207162
7 STK11 NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs) deletion Pathogenic rs587776659 GRCh38 Chromosome 19, 1221312: 1221313
8 STK11 NM_000455.4(STK11): c.200T> C (p.Leu67Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137853077 GRCh37 Chromosome 19, 1207112: 1207112
9 STK11 NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn) deletion Pathogenic rs587776660 GRCh38 Chromosome 19, 1221994: 1222002
10 STK11 NM_000455.4(STK11): c.169G> T (p.Glu57Ter) single nucleotide variant Pathogenic rs137854584 GRCh37 Chromosome 19, 1207081: 1207081
11 STK11 NM_000455.4(STK11): c.418delC (p.Leu140Trpfs) deletion Pathogenic rs397518440 GRCh37 Chromosome 19, 1219366: 1219366
12 STK11 NM_000455.4(STK11): c.197dupT (p.Leu67Alafs) duplication Pathogenic rs397518441 GRCh37 Chromosome 19, 1207109: 1207109
13 STK11 NM_000455.4(STK11): c.717G> C (p.Trp239Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853082 GRCh37 Chromosome 19, 1220699: 1220699
14 STK11 NM_000455.4(STK11): c.891delG (p.Arg297Serfs) deletion Pathogenic rs587776661 GRCh37 Chromosome 19, 1221976: 1221976
15 STK11 NM_000455.4(STK11): c.738C> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs137853083 GRCh37 Chromosome 19, 1221215: 1221215
16 STK11 NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs) duplication Pathogenic rs398123404 GRCh37 Chromosome 19, 1207081: 1207081
17 STK11 NM_000455.4(STK11): c.877G> T (p.Glu293Ter) single nucleotide variant Pathogenic rs398123405 GRCh37 Chromosome 19, 1221962: 1221962
18 STK11 NM_000455.4(STK11): c.921-1G> T single nucleotide variant Pathogenic rs398123406 GRCh37 Chromosome 19, 1222983: 1222983
19 STK11 NM_000455.4(STK11): c.908T> G (p.Ile303Ser) single nucleotide variant Likely pathogenic rs727504171 GRCh38 Chromosome 19, 1221994: 1221994
20 STK11 NM_000455.4(STK11): c.921-2A> T single nucleotide variant Pathogenic rs727504172 GRCh37 Chromosome 19, 1222982: 1222982
21 STK11 NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs) duplication Pathogenic rs786200991 GRCh37 Chromosome 19, 1223051: 1223051
22 STK11 NM_000455.4(STK11): c.526G> A (p.Asp176Asn) single nucleotide variant Likely pathogenic rs730881979 GRCh37 Chromosome 19, 1220433: 1220433
23 STK11 NM_000455.4(STK11): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic/Likely pathogenic rs786201090 GRCh37 Chromosome 19, 1221995: 1221995
24 STK11 NM_000455.4(STK11): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
25 STK11 NM_000455.4(STK11): c.842delC (p.Pro281Argfs) deletion Pathogenic rs121913321 GRCh38 Chromosome 19, 1221320: 1221320
26 STK11 NM_000455.4(STK11): c.844dupC (p.Leu282Profs) duplication Pathogenic rs786205864 GRCh38 Chromosome 19, 1221322: 1221322
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.644G> A (p.Gly215Asp) single nucleotide variant Likely pathogenic rs1057520038 GRCh37 Chromosome 19, 1220626: 1220626
38 STK11 NM_000455.4(STK11): c.323A> G (p.Lys108Arg) single nucleotide variant Likely pathogenic rs1057520040 GRCh37 Chromosome 19, 1218448: 1218448
39 STK11 NM_000455.4(STK11): c.530T> A (p.Ile177Asn) single nucleotide variant Likely pathogenic rs1057520041 GRCh37 Chromosome 19, 1220437: 1220437
40 STK11 NM_000455.4(STK11): c.924G> C (p.Trp308Cys) single nucleotide variant Likely pathogenic rs1057520042 GRCh37 Chromosome 19, 1222987: 1222987
41 STK11 NC_000019.10: g.(?_1218417)_(1219413_?)del deletion Pathogenic GRCh37 Chromosome 19, 1218416: 1219412
42 STK11 NC_000019.10: g.(?_1218417)_(1223172_?)del deletion Pathogenic GRCh37 Chromosome 19, 1218416: 1223171
43 STK11 NM_000455.4(STK11): c.935_936delAA (p.Lys312Thrfs) deletion Pathogenic rs1060499962 GRCh38 Chromosome 19, 1222999: 1223000
44 STK11 NM_000455.4(STK11): c.842dupC (p.Leu282Alafs) duplication Pathogenic GRCh38 Chromosome 19, 1221320: 1221320
45 STK11 NC_000019.10: g.(?_1221949)_(1222006_?)del deletion Pathogenic GRCh38 Chromosome 19, 1221949: 1222006
46 STK11 NM_000455.4(STK11): c.129delC (p.Lys44Serfs) deletion Pathogenic rs1060499961 GRCh38 Chromosome 19, 1207042: 1207042
47 STK11 NM_000455.4(STK11): c.989_996delACCGGTGG (p.Asp330Alafs) deletion Pathogenic rs1060499960 GRCh38 Chromosome 19, 1223053: 1223060

Copy number variations for Peutz-Jeghers Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 43)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 APC CTNNB1 PRKAA2 PTEN SMAD4 STK11
2
Show member pathways
12.87 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
3 12.6 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
4 12.5 APC CTNNB1 PRKAA2 PTEN STK11 TP53
5
Show member pathways
12.47 APC CTNNB1 SMAD4 TP53
6
Show member pathways
12.44 PRKAA2 PTEN TSC1 TSC2
7 12.41 CYP19A1 PRKAA2 PTEN STK11 TSC2
8
Show member pathways
12.41 APC BRCA2 CTNNB1 PTEN SMAD4 TP53
9 12.35 APC CTNNB1 SMAD4 TP53
10
Show member pathways
12.35 PRKAA2 STK11 TP53 TSC1 TSC2
11
Show member pathways
12.33 PRKAA2 STK11 TSC1 TSC2
12
Show member pathways
12.33 APC PRKAA2 PTEN STK11 TP53 TSC1
13
Show member pathways
12.31 PTEN TP53 TSC1 TSC2
14
Show member pathways
12.16 PTEN TP53 TSC1 TSC2
15
Show member pathways
12.15 PRKAA2 STK11 TSC1 TSC2
16 12.12 APC CTNNB1 SMAD4 TP53
17
Show member pathways
12.07 PRKAA2 STK11 TP53 TSC1 TSC2
18 12.05 APC CTNNB1 SMAD4
19 12.05 APC CTNNB1 PRKAA2 TSC2
20
Show member pathways
12.04 PRKAA2 TSC1 TSC2
21
Show member pathways
12.02 CTNNB1 PTEN TSC2
22
Show member pathways
12.02 PRKAA2 PTEN SMAD4 STK11
23 11.99 CTNNB1 PRKAA2 TP53
24 11.99 APC CTNNB1 SMAD4
25 11.99 APC PTEN TP53 TSC2
26 11.98 PRKAA2 PTEN STK11 TSC1 TSC2
27 11.91 CTNNB1 TP53 TSC2
28 11.89 APC CTNNB1 PTEN SMAD4 TP53
29 11.86 PTEN SMAD4 TP53
30 11.86 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
31 11.79 CTNNB1 PTEN SMAD4
32 11.76 PTEN TSC1 TSC2
33 11.73 PRKAA2 PTEN TP53 TSC1 TSC2
34 11.54 APC CTNNB1 TSC1 TSC2
35 11.53 APC PTEN TP53
36 11.48 APC CTNNB1 PTEN TP53 TSC1 TSC2
37 11.46 BRCA2 CTNNB1 CYP19A1 PTEN SMAD4 STK11
38 11.34 APC PTEN TP53
39 11.21 APC CTNNB1 SMAD4
40 11.18 SMAD4 STK11 TP53 TSC1 TSC2
41 11.07 APC CTNNB1
42 11.02 PTEN SMAD4
43 10.92 APC CTNNB1

GO Terms for Peutz-Jeghers Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.76 APC BRCA2 CTNNB1 SMAD4
2 microvillus membrane GO:0031528 9.43 CTNNB1 PTPRH
3 beta-catenin destruction complex GO:0030877 9.26 APC CTNNB1
4 catenin complex GO:0016342 9.16 APC CTNNB1
5 Wnt signalosome GO:1990909 8.96 APC CTNNB1
6 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2
7 cytoplasm GO:0005737 10.11 APC BRCA2 CTNNB1 PRKAA2 PTEN PTPRH
8 cytosol GO:0005829 10.02 APC BRCA2 CTNNB1 PRKAA2 PTEN SMAD4
9 nucleoplasm GO:0005654 10.01 APC BRCA2 CTNNB1 PRKAA2 PTEN SMAD4

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.85 APC CTNNB1 PTEN TP53
2 cell proliferation GO:0008283 9.8 BRCA2 CTNNB1 PTEN SMAD4 TP53
3 regulation of signal transduction by p53 class mediator GO:1901796 9.78 PRKAA2 STK11 TP53
4 regulation of cell cycle GO:0051726 9.77 PTEN TSC1 TSC2
5 negative regulation of cell growth GO:0030308 9.76 SMAD4 STK11 TP53
6 protein deubiquitination GO:0016579 9.76 APC PTEN SMAD4 TP53
7 kidney development GO:0001822 9.71 CTNNB1 SMAD4 TSC1
8 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.63 SMAD4 STK11
9 vasculature development GO:0001944 9.62 CTNNB1 STK11
10 response to X-ray GO:0010165 9.62 BRCA2 TP53
11 beta-catenin destruction complex disassembly GO:1904886 9.61 APC CTNNB1
12 gastrulation with mouth forming second GO:0001702 9.59 CTNNB1 SMAD4
13 uterus development GO:0060065 9.58 CYP19A1 SMAD4
14 positive regulation of histone H3-K4 methylation GO:0051571 9.57 CTNNB1 SMAD4
15 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.56 BRCA2 TP53
16 negative regulation of TOR signaling GO:0032007 9.54 PRKAA2 TSC1 TSC2
17 negative regulation of oxidative stress-induced neuron death GO:1903204 9.52 CTNNB1 TSC1
18 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.51 PTEN TSC2
19 positive regulation of macroautophagy GO:0016239 9.5 PRKAA2 TSC1 TSC2
20 anoikis GO:0043276 9.49 STK11 TSC2
21 negative regulation of cell size GO:0045792 9.48 PTEN TSC1
22 canonical Wnt signaling pathway GO:0060070 9.46 APC CTNNB1 PTEN STK11
23 prostate gland growth GO:0060736 9.43 CYP19A1 PTEN
24 female gonad development GO:0008585 9.43 BRCA2 CYP19A1 SMAD4
25 cell cycle arrest GO:0007050 9.43 APC PRKAA2 STK11 TP53 TSC1 TSC2
26 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:

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.56 APC CTNNB1 PTEN TP53
2 chromatin binding GO:0003682 9.46 CTNNB1 PRKAA2 SMAD4 TP53
3 I-SMAD binding GO:0070411 8.96 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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