PJS
MCID: PTZ001
MIFTS: 71

Peutz-Jeghers Syndrome (PJS) malady

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

Aliases & Classifications for Peutz-Jeghers Syndrome

Aliases & Descriptions for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 54 12 71 23 50 24 25 56 66 29 13 52 42 14 69
Pjs 23 50 24 25 56 66
Polyps-and-Spots Syndrome 50 25 66
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 66
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;

GeneReviews:

23
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:



External Ids:

OMIM 54 175200
Disease Ontology 12 DOID:3852
ICD10 33 Q85.8
MeSH 42 D010580
Orphanet 56 ORPHA2869
ICD10 via Orphanet 34 Q85.8
MESH via Orphanet 43 D010580
UMLS via Orphanet 70 C0031269
MedGen 40 C0031269

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 colorectal cancer and pancreatic cancer, 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 Signaling by GPCR and ERK Signaling. 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 Decreased sensitivity to paclitaxel and Increased mitotic index

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... (175200) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 159)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.0 APC BRCA2 CTNNB1 MUC6 PTEN SMAD4
2 pancreatic cancer 11.6
3 gastric cancer 11.5
4 hereditary mixed polyposis syndrome 1 11.2
5 gastric cancer, somatic 11.1
6 ovarian cancer 11.1
7 bannayan-riley-ruvalcaba syndrome 11.1
8 carney complex, type 1 11.1
9 bier spots 11.1
10 childhood ovarian cancer 11.1
11 familial stomach cancer 11.1
12 intussusception 10.7
13 adenocarcinoma 10.6
14 adenoma 10.5
15 sertoli cell tumor 10.5
16 pancreatitis 10.5
17 ovarian sex cord tumor with annular tubules 10.4
18 gynecomastia 10.4
19 cervicitis 10.4
20 breast cancer 10.3
21 endocervicitis 10.3
22 pierre robin syndrome and oligodactyly 10.2 PTEN SMAD4
23 duodenitis 10.2
24 prostate cancer, hereditary, x-linked 1 10.2 PTEN STK11 TP53
25 melorheostosis with osteopoikilosis 10.2 TSC1 TSC2
26 infantile thalamic degeneration 10.2 APC TP53
27 thyroiditis 10.2
28 macular degeneration, early-onset 10.2 APC CTNNB1
29 mitochondrial neurogastrointestinal encephalopathy disease 10.2 APC SMAD4 TP53
30 familial hypopituitarism 10.2 APC SMAD4 TP53
31 lung clear cell-sugar-tumor 10.2 BRCA2 TP53
32 neurological consequences of cytomegalovirus infection 10.2 PTEN STK11 TSC1
33 multiple mitochondrial dysfunctions syndrome 1 10.1 PTEN TSC1 TSC2
34 hypothalamic adipsic hypernatraemia syndrome 10.1 BRCA2 SMAD4
35 breast ductal carcinoma 10.1 CTNNB1 PTEN TP53
36 gastric adenocarcinoma 10.1
37 gastroduodenitis 10.1
38 cervical adenoma malignum 10.1
39 bilateral breast cancer 10.1
40 intestinal obstruction 10.1
41 adult syndrome 10.1 CTNNB1 PTEN TP53
42 villoglandular endometrial endometrioid adenocarcinoma 10.1 BRCA2 PTEN TP53
43 focal cortical dysplasia, taylor balloon cell type 10.1 PTEN TSC1 TSC2
44 inner ear cancer 10.1 TP53 TSC1 TSC2
45 bronchogenic cyst 10.1 APC BRCA2 PTEN
46 bronchiectasis oligospermia 10.1 APC BRCA2 PTEN
47 htr2a-related altered drug metabolism 10.1 APC MUC6
48 dfnb1 10.1 APC CTNNB1
49 pituitary stalk meningioma 10.1 BRCA2 PTEN TP53
50 prostatic adenoma 10.1 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 by clinical synopsis from OMIM:

175200

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

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 26)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 SMAD4 STK11 TP53 TSC1 TSC2 APC
2 cellular MP:0005384 10.4 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
3 endocrine/exocrine gland MP:0005379 10.37 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
4 growth/size/body region MP:0005378 10.36 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
5 homeostasis/metabolism MP:0005376 10.34 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
6 cardiovascular system MP:0005385 10.32 PTEN SMAD4 STK11 TP53 TSC1 TSC2
7 hematopoietic system MP:0005397 10.31 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
8 embryo MP:0005380 10.3 APC BRCA2 CTNNB1 PTCH1 PTEN SMAD4
9 integument MP:0010771 10.28 PTEN SMAD4 STK11 TP53 TSC1 TSC2
10 digestive/alimentary MP:0005381 10.26 APC BRCA2 CTNNB1 CYP19A1 PTCH1 PTEN
11 nervous system MP:0003631 10.21 APC BRCA2 CTNNB1 CYP19A1 PRKAA2 PTCH1
12 immune system MP:0005387 10.2 APC BRCA2 CTNNB1 CYP19A1 PTCH1 PTEN
13 mortality/aging MP:0010768 10.19 SMAD4 STK11 TP53 TSC1 TSC2 APC
14 muscle MP:0005369 10.18 APC CTNNB1 CYP19A1 PRKAA2 PTCH1 PTEN
15 liver/biliary system MP:0005370 10.16 CTNNB1 CYP19A1 PTEN SMAD4 STK11 TP53
16 neoplasm MP:0002006 10.16 APC BRCA2 CTNNB1 PTCH1 PTEN SMAD4
17 normal MP:0002873 10.1 CYP19A1 PTCH1 PTEN SMAD4 STK11 TP53
18 craniofacial MP:0005382 10.09 APC CTNNB1 PTCH1 SMAD4 STK11 TP53
19 limbs/digits/tail MP:0005371 10.07 APC BRCA2 CTNNB1 PTCH1 PTEN SMAD4
20 renal/urinary system MP:0005367 10.06 TSC2 APC CTNNB1 CYP19A1 PRKAA2 PTCH1
21 reproductive system MP:0005389 10 APC BRCA2 CTNNB1 CYP19A1 PTCH1 PTEN
22 hearing/vestibular/ear MP:0005377 9.97 APC CTNNB1 CYP19A1 PRKAA2 TP53
23 pigmentation MP:0001186 9.85 APC CTNNB1 CYP19A1 PTCH1 PTEN TP53
24 respiratory system MP:0005388 9.63 CTNNB1 PTCH1 PTEN STK11 TP53 TSC1
25 skeleton MP:0005390 9.61 APC BRCA2 CTNNB1 CYP19A1 PTCH1 PTEN
26 vision/eye MP:0005391 9.23 APC CTNNB1 CYP19A1 PTCH1 PTEN STK11

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
Secretin Approved, Investigational Phase 1, Phase 2 108153-74-8
2
Pancrelipase Approved 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 5284616 6436030 46835353
6 pancreatin Phase 1, Phase 2
7 Gastrointestinal Agents Phase 1, Phase 2
8 Hormone Antagonists Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
11 Anti-Bacterial Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Antifungal Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16
Epinephrine Approved, Vet_approved 51-43-4 5816
17 Mitogens
18 Epinephryl borate
19 Racepinephrine
20 serine Nutraceutical

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2
2 Secretin (ChiRhoStim) Pancreas Perfusion for Pancreatic Adenocarcinoma Terminated NCT00587132 Phase 1, Phase 2
3 Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome Withdrawn NCT01178151 Phase 2
4 Cancer of the Pancreas Screening Study (CAPS 3) Completed NCT00438906
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
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, Eye, Breast, Cervix, Ovary, Skin

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 589)
id Title Authors Year
1
Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature. ( 28445255 )
2017
2
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Paediatric Patients With PEUTZ-Jeghers Syndrome. ( 28319601 )
2017
3
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. ( 28185117 )
2017
4
Unusual ultrasound appearance of small bowel intussusception and secondary bowel obstruction in a child with Peutz-Jeghers syndrome. ( 28314199 )
2017
5
Gastrointestinal diseases and their oro-dental manifestations: Part 4: Peutz-Jeghers syndrome. ( 28184053 )
2017
6
Correlation between genotype and phenotype in three families with Peutz-Jeghers Syndrome. ( 28352323 )
2017
7
A Peutz-Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report. ( 28391433 )
2017
8
A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. ( 28231849 )
2017
9
Cervical Minimal Deviation Adenocarcinoma in Peutz-Jeghers Syndrome. ( 28062068 )
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
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. ( 26877140 )
2016
12
Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy. ( 27404294 )
2016
13
A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome. ( 27550049 )
2016
14
Aberrant expression of Sonic hedgehog signaling in Peutz-Jeghers syndrome. ( 26997450 )
2016
15
Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome. ( 27721366 )
2016
16
Update on our investigation of malignant tumors associated with Peutz-Jeghers syndrome in Japan. ( 26746637 )
2016
17
Seven-Year Follow-Up of Peutz-Jeghers Syndrome. ( 27195155 )
2016
18
The usefulness of cold polypectomy for the small bowel polyps in Peutz-Jeghers syndrome. ( 27061809 )
2016
19
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
20
[Mutations of the STK11 and FHIT genes among patients with Peutz-Jeghers syndrome]. ( 27060312 )
2016
21
Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. ( 27241107 )
2016
22
Recurrent ovarian Sertoli-Leydig cell tumor in a child with Peutz-Jeghers syndrome. ( 28101370 )
2016
23
Multiple Intussusceptions in Peutz-Jeghers Syndrome: Detection through Multidetector Computerized Tomography Enterography. ( 27270555 )
2016
24
Case Report: Spleen-preserving Multivisceral Transplant for Peutz-Jeghers Syndrome. ( 27109998 )
2016
25
Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant. ( 27004004 )
2016
26
Laparoscopic restorative proctocolectomy with ileal pouch-anal anastomosis for Peutz-Jeghers syndrome with synchronous rectal cancer. ( 27298573 )
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
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
29
Peutz-Jeghers syndrome complicated with small bowel intussusception managed by laparoscopy-assisted transoral single-balloon enteroscopy. ( 27352980 )
2016
30
Disease pattern in Danish patients with Peutz-Jeghers syndrome. ( 26979979 )
2016
31
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
32
Peutz-Jeghers syndrome: Four cases in one family. ( 26989648 )
2016
33
Non-Peutz-Jeghers syndrome-associated ovarian sex cord tumor with annular tubules: Report of a malignant case. ( 26807963 )
2016
34
A Clinical and Molecular Genetic Study in 11 Chinese Children with Peutz-Jeghers syndrome. ( 27467201 )
2016
35
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
36
Giant rectal polyp prolapse in an adult patient with the Peutz-Jeghers syndrome. ( 27444139 )
2016
37
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome. ( 27821076 )
2016
38
Disseminated plantar lentigines associated with Peutz-Jeghers syndrome. ( 27173455 )
2016
39
Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome. ( 25715854 )
2015
40
First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome. ( 26386697 )
2015
41
Jejunal Intussusception in Peutz-Jeghers Syndrome Mimicking Acute Appendicitis. ( 25851824 )
2015
42
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
43
Isolated Large Cell Calcifying Sertoli Cell Tumor in a Young Boy, not Associated with Peutz-Jeghers Syndrome or Carney Complex. ( 26587565 )
2015
44
Peutz-jeghers syndrome with synchronous adenocarcinoma arising from ileal polyps. ( 25972661 )
2015
45
Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome. ( 26225618 )
2015
46
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. ( 25487640 )
2015
47
P16-positive continuous minimal deviation adenocarcinoma and gastric type adenocarcinoma in a patient with Peutz-Jeghers syndrome. ( 26191312 )
2015
48
Jejunojejunal intussusception after polypectomy by spiral enteroscopy in Peutz-Jeghers syndrome. ( 26528691 )
2015
49
A case of Peutz-Jeghers syndrome associated with high-grade intramucosal neoplasia. ( 26261661 )
2015
50
Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant. ( 26430231 )
2015

Variations for Peutz-Jeghers Syndrome

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

66
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 GRCh37 Chromosome 19, 1221993: 1221993
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 GRCh38 Chromosome 19, 1220434: 1220434
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 GRCh37 Chromosome 19, 1221321: 1221321
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 48)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.07 APC CTNNB1 PRKAA2 PTCH1 PTEN SMAD4
2
Show member pathways
13.71 APC CTNNB1 PRKAA2 PTCH1 PTEN SMAD4
3
Show member pathways
12.94 APC BRCA2 CTNNB1 PTEN TP53 TSC1
4
Show member pathways
12.89 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
5 12.52 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
6 12.51 APC BRCA2 CTNNB1 PTCH1 PTEN SMAD4
7
Show member pathways
12.48 APC CTNNB1 SMAD4 TP53
8
Show member pathways
12.45 PRKAA2 PTEN TSC1 TSC2
9 12.43 CYP19A1 PRKAA2 PTEN STK11 TSC2
10
Show member pathways
12.37 PRKAA2 STK11 TP53 TSC1 TSC2
11 12.36 APC CTNNB1 SMAD4 TP53
12
Show member pathways
12.35 PRKAA2 STK11 TSC1 TSC2
13
Show member pathways
12.33 PTEN TP53 TSC1 TSC2
14
Show member pathways
12.33 APC PRKAA2 PTEN STK11 TP53 TSC1
15
Show member pathways
12.3 APC CTNNB1 PTCH1 TP53
16
Show member pathways
12.26 APC CTNNB1 PTEN SMAD4 TP53 TSC2
17 12.19 APC CTNNB1 PTCH1 SMAD4
18
Show member pathways
12.16 PRKAA2 STK11 TSC1 TSC2
19 12.14 APC CTNNB1 SMAD4 TP53
20
Show member pathways
12.13 PTEN TP53 TSC1 TSC2
21
Show member pathways
12.07 PRKAA2 STK11 TP53 TSC1 TSC2
22 12.06 APC CTNNB1 SMAD4
23 12.06 APC CTNNB1 PRKAA2 TSC2
24
Show member pathways
12.05 PRKAA2 TSC1 TSC2
25
Show member pathways
12.04 PRKAA2 PTEN SMAD4 STK11
26
Show member pathways
12.03 CTNNB1 PTEN TSC2
27
Show member pathways
12.01 BRCA2 SMAD4 TP53
28 12.01 CTNNB1 PRKAA2 TP53
29 12.01 APC PTEN TP53 TSC2
30 12 APC CTNNB1 SMAD4
31 11.98 PRKAA2 PTEN STK11 TSC1 TSC2
32 11.92 CTNNB1 TP53 TSC2
33 11.92 APC CTNNB1 PTEN SMAD4 TP53
34 11.87 PTEN SMAD4 TP53
35 11.86 PRKAA2 PTEN STK11 TP53 TSC1 TSC2
36 11.8 CTNNB1 PTEN SMAD4
37 11.78 PTEN TSC1 TSC2
38 11.73 PRKAA2 PTEN TP53 TSC1 TSC2
39 11.55 APC PTEN TP53
40 11.55 APC CTNNB1 TSC1 TSC2
41 11.48 APC CTNNB1 PTEN TP53 TSC1 TSC2
42 11.46 BRCA2 CTNNB1 CYP19A1 PTEN SMAD4 STK11
43 11.36 APC PTEN TP53
44 11.23 APC CTNNB1 SMAD4
45 11.18 SMAD4 STK11 TP53 TSC1 TSC2
46 11.08 APC CTNNB1
47 11.04 PTEN SMAD4
48 10.94 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 9.73 APC BRCA2 CTNNB1 SMAD4
2 perinuclear region of cytoplasm GO:0048471 9.55 APC CTNNB1 PTCH1 TSC1 TSC2
3 Wnt signalosome GO:1990909 9.32 APC CTNNB1
4 beta-catenin destruction complex GO:0030877 9.26 APC CTNNB1
5 catenin complex GO:0016342 8.96 APC CTNNB1
6 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2
7 cytosol GO:0005829 10.07 APC BRCA2 CTNNB1 PRKAA2 PTEN SMAD4
8 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 32)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.89 APC CTNNB1 PTEN TP53
2 positive regulation of transcription, DNA-templated GO:0045893 9.89 BRCA2 CTNNB1 PTCH1 SMAD4 TP53
3 protein deubiquitination GO:0016579 9.81 APC PTEN SMAD4 TP53
4 regulation of cell cycle GO:0051726 9.8 PTEN TSC1 TSC2
5 regulation of signal transduction by p53 class mediator GO:1901796 9.8 PRKAA2 STK11 TP53
6 cell proliferation GO:0008283 9.8 BRCA2 CTNNB1 PTEN SMAD4 TP53
7 negative regulation of cell growth GO:0030308 9.79 SMAD4 STK11 TP53
8 glucose homeostasis GO:0042593 9.76 PRKAA2 PTCH1 STK11
9 kidney development GO:0001822 9.75 CTNNB1 SMAD4 TSC1
10 response to estradiol GO:0032355 9.73 CTNNB1 PTCH1 PTEN
11 beta-catenin destruction complex disassembly GO:1904886 9.65 APC CTNNB1
12 response to X-ray GO:0010165 9.65 BRCA2 TP53
13 renal system development GO:0072001 9.65 CTNNB1 PTCH1
14 neural tube closure GO:0001843 9.65 PTCH1 TSC1 TSC2
15 vasculature development GO:0001944 9.64 CTNNB1 STK11
16 cell fate determination GO:0001709 9.64 CTNNB1 PTCH1
17 gastrulation with mouth forming second GO:0001702 9.63 CTNNB1 SMAD4
18 positive regulation of histone H3-K4 methylation GO:0051571 9.61 CTNNB1 SMAD4
19 uterus development GO:0060065 9.61 CYP19A1 SMAD4
20 branching involved in ureteric bud morphogenesis GO:0001658 9.61 CTNNB1 PTCH1 SMAD4
21 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.6 BRCA2 TP53
22 negative regulation of oxidative stress-induced neuron death GO:1903204 9.57 CTNNB1 TSC1
23 anoikis GO:0043276 9.55 STK11 TSC2
24 negative regulation of cell size GO:0045792 9.54 PTEN TSC1
25 negative regulation of TOR signaling GO:0032007 9.54 PRKAA2 TSC1 TSC2
26 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.52 PTEN TSC2
27 positive regulation of macroautophagy GO:0016239 9.5 PRKAA2 TSC1 TSC2
28 prostate gland growth GO:0060736 9.46 CYP19A1 PTEN
29 canonical Wnt signaling pathway GO:0060070 9.46 APC CTNNB1 PTEN STK11
30 female gonad development GO:0008585 9.43 BRCA2 CYP19A1 SMAD4
31 cell cycle arrest GO:0007050 9.43 APC PRKAA2 STK11 TP53 TSC1 TSC2
32 negative regulation of cell proliferation GO:0008285 9.28 APC CTNNB1 PTCH1 PTEN SMAD4 STK11

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.56 CTNNB1 PRKAA2 SMAD4 TP53
2 protein kinase binding GO:0019901 9.46 APC CTNNB1 PTEN 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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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52 Novoseek
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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