PJS
MCID: PTZ001
MIFTS: 70

Peutz-Jeghers Syndrome (PJS)

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

Aliases & Classifications for Peutz-Jeghers Syndrome

MalaCards integrated aliases for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 57 12 74 25 20 43 58 73 36 29 13 54 6 44 15 39 71
Pjs 57 25 20 43 58 73
Polyposis, Hamartomatous Intestinal 57 74 20 43
Polyps-and-Spots Syndrome 57 20 43 73
Periorificial Lentiginosis Syndrome 20 43
Lentiginosis, Perioral 20 43
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 43
Peutz-Jeghers Polyp of Small Intestine 12
Peutz-Jeghers Small Bowel Hamartoma 12
Peutz-Jeghers Polyps of Small Bowel 71
Hamartomatous Intestinal Polyposis 58
Intestinal Hamartomatous Polyposis 73
Peutz-Jeghers Polyp of the Stomach 71
Colonic Hamartomatous Polyp 12
Gastric Peutz-Jeghers Polyp 12
Peutz Jeghers Colon Polyp 12
Polyposis, Intestinal, Ii 43
Polyps and Spots Syndrome 58
Peutz Jeghers Polyposis 20
Peutz-Jeghers Polyposis 43
Peutz Jeghers Polyp 12
Peutz-Jeghers Polyp 17
Hamartomatous Polyp 71
Peutz Jehgers Polyp 71

Characteristics:

Orphanet epidemiological data:

58
peutz-jeghers syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Mar-2021)
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:

25
Penetrance To date all reported individuals with pathogenic variants in stk11 have shown clinical manifestations.

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Peutz-Jeghers Syndrome

MedlinePlus Genetics : 43 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.Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.

MalaCards based summary : Peutz-Jeghers Syndrome, also known as pjs, is related to cowden syndrome 1 and pancreatic cancer. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways/superpathways are mTOR signaling pathway and Adipocytokine signaling pathway. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, cervix and colon, and related phenotypes are multiple lentigines and gastrointestinal carcinoma

GARD : 20 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.

OMIM® : 57 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms. (175200) (Updated 05-Mar-2021)

KEGG : 36 Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation.

UniProtKB/Swiss-Prot : 73 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 : 74 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 304)
# Related Disease Score Top Affiliating Genes
1 cowden syndrome 1 32.2 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
2 pancreatic cancer 32.0 TSC1 TP53 STK11 SMAD4 PTEN CTNNB1
3 congenital heart defects, hamartomas of tongue, and polysyndactyly 32.0 TSC2 TSC1 STK11 PTEN
4 adenoma 31.6 TSC1 TP53 SMAD4 PRKAR1A CTNNB1 APC
5 sertoli cell tumor 31.6 PRKAR1A INHA CYP19A1
6 adenocarcinoma 31.5 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
7 gastric adenocarcinoma 31.3 TP53 SMAD4 PTEN CTNNB1
8 familial adenomatous polyposis 31.2 TP53 SMAD4 CTNNB1 APC
9 cervical adenoma malignum 31.2 TP53 STK11 BRCA2
10 carney complex variant 31.2 STK11 PRKAR1A CTNNB1 CNC2
11 intrahepatic cholangiocarcinoma 31.1 TP53 SMAD4 CTNNB1 APC
12 cholangiocarcinoma 31.1 TP53 SMAD4 CTNNB1 APC
13 colorectal adenoma 31.1 TP53 PTEN CTNNB1 APC
14 juvenile polyposis syndrome 31.1 STK11 SMAD4 PTEN CTNNB1 APC
15 pancreatic adenocarcinoma 31.1 TP53 SMAD4 CTNNB1 BRCA2
16 tuberous sclerosis 1 31.1 TSC2 TSC1 TP53 STK11 PTEN
17 in situ carcinoma 31.1 TP53 PTEN CYP19A1 CTNNB1 BRCA2
18 colon adenocarcinoma 31.0 TP53 SMAD4 PTEN CTNNB1 APC
19 tuberous sclerosis 31.0 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
20 intestinal benign neoplasm 30.9 TP53 SMAD4 PTEN CTNNB1 APC
21 lung cancer susceptibility 3 30.9 TP53 STK11 SMAD4 CTNNB1 APC
22 sporadic breast cancer 30.8 TP53 PTEN CYP19A1 BRCA2
23 small intestine cancer 30.8 TP53 STK11 SMAD4 CTNNB1
24 endometrial hyperplasia 30.7 TP53 PTEN CYP19A1 CTNNB1
25 endometrial adenocarcinoma 30.7 TP53 PTEN CTNNB1
26 melanocytic nevus syndrome, congenital 30.7 STK11 PRKAR1A CNC2
27 bile duct cancer 30.7 TP53 SMAD4 PTEN CTNNB1
28 endometrial cancer 30.6 TP53 SMAD4 PTEN INHA CYP19A1 CTNNB1
29 cervical cancer 30.6 TP53 STK11 SMAD4 PTEN CTNNB1
30 melanoma, cutaneous malignant 1 30.6 TP53 STK11 PTEN CTNNB1 BRCA2
31 mccune-albright syndrome 30.6 PRKAR1A CYP19A1 APC
32 pancreatic ductal adenocarcinoma 30.5 TP53 SMAD4 PTEN CTNNB1 BRCA2
33 adrenal cortical carcinoma 30.5 TP53 PRKAR1A INHA CYP19A1 CTNNB1
34 lynch syndrome 30.4 TP53 STK11 SMAD4 PTEN CTNNB1 BRCA2
35 cowden syndrome 30.3 TSC2 TSC1 TP53 STK11IP STK11 SMAD4
36 li-fraumeni syndrome 30.3 TP53 STK11 SMAD4 PTEN PRKAR1A CTNNB1
37 gastric cancer 11.4
38 carney complex, type 1 11.3
39 ovarian cancer 11.2
40 bier spots 11.2
41 intussusception 11.2
42 intestinal polyposis syndrome 10.9
43 intestinal obstruction 10.8
44 dowling-degos disease 1 10.8
45 ovarian sex-cord stromal tumor 10.7
46 infant gynecomastia 10.7
47 gynecomastia 10.7
48 short bowel syndrome 10.7
49 cervical adenocarcinoma 10.6
50 mucinous adenocarcinoma 10.6

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



Diseases related to Peutz-Jeghers Syndrome

Symptoms & Phenotypes for Peutz-Jeghers Syndrome

Human phenotypes related to Peutz-Jeghers Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lentigines 58 31 hallmark (90%) Very frequent (99-80%) HP:0001003
2 gastrointestinal carcinoma 58 31 very rare (1%) Very frequent (99-80%) HP:0002672
3 abnormal pigmentation of the oral mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:0100669
4 gastrointestinal hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002239
5 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
6 abnormality of the gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005264
7 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
8 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
9 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
10 rectal prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0002035
11 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
12 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
13 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
14 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
15 renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005584
16 pancreatic adenocarcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006725
17 enlarged polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0008675
18 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
19 neoplasm of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0012720
20 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
21 neoplasm of the colon 58 31 occasional (7.5%) Occasional (29-5%) HP:0100273
22 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
23 biliary tract neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100574
24 nasal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100582
25 melanonychia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100644
26 neoplasm of the rectum 58 31 occasional (7.5%) Occasional (29-5%) HP:0100743
27 esophageal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100751
28 neoplasm of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100833
29 neoplasm 58 Occasional (29-5%)
30 macule 58 Very frequent (99-80%)
31 gynecomastia 31 HP:0000771
32 abnormality of the respiratory system 58 Occasional (29-5%)
33 hypermelanotic macule 31 HP:0001034
34 abnormality of the nose 58 Occasional (29-5%)
35 abnormality of the gastrointestinal tract 58 Very frequent (99-80%)
36 hamartomatous polyposis 31 HP:0004390
37 intestinal bleeding 31 HP:0002584
38 biliary tract abnormality 31 HP:0001080
39 neoplasm of the pancreas 31 HP:0002894
40 uterine neoplasm 31 HP:0010784
41 ovarian cyst 31 HP:0000138
42 iron deficiency anemia 31 HP:0001891
43 clubbing 31 HP:0001217
44 clubbing of fingers 31 HP:0100759
45 intussusception 31 HP:0002576
46 precocious puberty with sertoli cell tumor 31 HP:0008204
47 bladder polyp 31 HP:0031261
48 oral melanotic macule 31 HP:0032451
49 labial melanotic macule 31 HP:0032454

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
rectal prolapse
intestinal bleeding
intussusception
hamartomatous polyps (stomach to rectum)
recurrent colicky abdominal pain

Hematology:
iron deficiency anemia

Endocrine Features:
precocious puberty with sertoli cell tumor

Head And Neck Nose:
nasal polyps

Respiratory Airways:
bronchial polyps

Abdomen Biliary Tract:
biliary tract polyps

Genitourinary Bladder:
bladder polyps

Neoplasia:
gastrointestinal carcinoma
lung
pancreatic cancer
breast cancer (ductal)
thyroid cancer
more
Skeletal Hands:
clubbing of fingers

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

Clinical features from OMIM®:

175200 (Updated 05-Mar-2021)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.98 STK11IP
2 Decreased viability GR00221-A-1 9.98 MARK1 PRKAA2 PRKAR1A STK11IP
3 Decreased viability GR00221-A-2 9.98 MARK1 PRKAA2 PRKAR1A STK11IP TSC1
4 Decreased viability GR00221-A-3 9.98 PRKAA2 PRKAR1A TSC1
5 Decreased viability GR00221-A-4 9.98 PRKAA2 PRKAR1A
6 Decreased viability GR00249-S 9.98 PRKAA2 STK11IP
7 Decreased viability GR00301-A 9.98 TSC1
8 Decreased viability GR00342-S-1 9.98 PRKAA2
9 Decreased viability GR00402-S-2 9.98 MARK1 PRKAA2
10 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC BRCA2 SMAD4 TSC1 TSC2
11 Decreased sensitivity to paclitaxel GR00112-A-0 8.85 PTEN

MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 APC ARID3A CTNNB1 CYP19A1 INHA PRKAA2
2 growth/size/body region MP:0005378 10.41 APC ARID3A BRCA2 CTNNB1 CYP19A1 INHA
3 behavior/neurological MP:0005386 10.4 APC ARID3A BRCA2 CTNNB1 CYP19A1 PRKAA2
4 cellular MP:0005384 10.39 APC ARID3A BRCA2 CTNNB1 CYP19A1 PRKAA2
5 endocrine/exocrine gland MP:0005379 10.36 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAA2
6 homeostasis/metabolism MP:0005376 10.36 APC ARID3A BRCA2 CTNNB1 CYP19A1 INHA
7 embryo MP:0005380 10.34 APC ARID3A BRCA2 CTNNB1 PRKAR1A PTEN
8 hematopoietic system MP:0005397 10.34 APC ARID3A BRCA2 CTNNB1 CYP19A1 INHA
9 digestive/alimentary MP:0005381 10.27 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAR1A
10 immune system MP:0005387 10.27 APC ARID3A BRCA2 CTNNB1 CYP19A1 INHA
11 integument MP:0010771 10.26 APC ARID3A BRCA2 CTNNB1 CYP19A1 PRKAR1A
12 liver/biliary system MP:0005370 10.21 APC ARID3A CTNNB1 CYP19A1 INHA PRKAR1A
13 neoplasm MP:0002006 10.11 APC BRCA2 CTNNB1 INHA PRKAR1A PTEN
14 muscle MP:0005369 10.1 APC CTNNB1 CYP19A1 PRKAA2 PRKAR1A PTEN
15 normal MP:0002873 10.1 APC ARID3A BRCA2 CTNNB1 CYP19A1 INHA
16 limbs/digits/tail MP:0005371 10.06 APC ARID3A BRCA2 CTNNB1 PTEN SMAD4
17 renal/urinary system MP:0005367 9.85 APC CTNNB1 CYP19A1 PRKAA2 PTEN SMAD4
18 pigmentation MP:0001186 9.8 APC CTNNB1 CYP19A1 PRKAR1A PTEN TP53
19 reproductive system MP:0005389 9.73 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAR1A
20 skeleton MP:0005390 9.32 APC BRCA2 CTNNB1 CYP19A1 INHA PRKAR1A

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3 Antifungal Agents Phase 4
4 Antibiotics, Antitubercular Phase 4
5 Anti-Infective Agents Phase 4
6 Anti-Bacterial Agents Phase 4
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
8 Immunosuppressive Agents Phase 2
9 Immunologic Factors Phase 2
10
Pancrelipase Approved, Investigational 53608-75-6
11
Secretin Approved 108153-74-8
12 pancreatin
13 Hormone Antagonists
14 Hormones
15 Gastrointestinal Agents
16 Cola
17
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome Recruiting NCT03781050 Phase 4 Rapamycin
2 Pilot Study of mTOR Inhibitor Therapy for Treatment of Intestinal Polyps in Peutz-Jeghers Syndrome Terminated NCT00811590 Phase 2 Everolimus
3 Pilot Study of Everolimus in the Treatment of Neoplasms in Patients With Peutz-Jeghers Syndrome Withdrawn NCT01178151 Phase 2 Everolimus
4 Screening for Early Pancreatic Neoplasia Completed NCT00438906 Secretin (human synthetic) - ChiRhoClin
5 Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions Completed NCT00001452
6 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
7 Single Incision Laparoscopic Surgery (SILS) for Colorectal Disease - A Novel Approach Completed NCT01656746
8 Molecular Typing and Precise Prevention and Treatment of Peutz-Jeghers Syndrome Recruiting NCT03806075
9 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Observational Study to Analyze the Outcomes of Subjects Who - Based Upon Their Sufficiently Elevated Risk for the Development of Pancreatic Adenocarcinoma- Elect to Undergo Early Detection Testing Recruiting NCT02206360
12 Italian Registry of Families At Risk of Pancreatic Cancer Recruiting NCT04095195
13 A Prospective Case Control Study on the Prevalence of Small Bowel and Colonic Polyps in Patients With Duodenal Adenomas/Ampullomas Who do Not Have Familial Adenomatous Polyposis (FAP) or Peutz Jeghers Syndrom (PJS). Active, not recruiting NCT02470416
14 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Withdrawn NCT02309632

Search NIH Clinical Center for Peutz-Jeghers Syndrome

Cochrane evidence based reviews: peutz-jeghers syndrome

Genetic Tests for Peutz-Jeghers Syndrome

Genetic tests related to Peutz-Jeghers Syndrome:

# Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome 29 STK11

Anatomical Context for Peutz-Jeghers Syndrome

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

40
Small Intestine, Cervix, Colon, Breast, Pancreas, Ovary, Lung

Publications for Peutz-Jeghers Syndrome

Articles related to Peutz-Jeghers Syndrome:

(show top 50) (show all 1852)
# Title Authors PMID Year
1
De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. 25 61 6 57
15200509 2004
2
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 6 25 57 61
9428765 1998
3
A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer. 6 57 54 61
15617552 2005
4
Genotype-phenotype correlations in Peutz-Jeghers syndrome. 61 57 25 54
15121768 2004
5
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome. 57 25 54 61
14970844 2004
6
Peutz-Jeghers syndrome: 78-year follow-up of the original family. 57 61 6
10217080 1999
7
Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. 57 6 61
9850045 1998
8
Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 57 6 61
9425897 1998
9
Unregulated smooth-muscle myosin in human intestinal neoplasia. 61 25 57
18391202 2008
10
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 25 61 57
9837816 1998
11
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2. 57 61 54
12438709 2002
12
Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. 61 57 54
11103790 2000
13
Genetic heterogeneity in Peutz-Jeghers syndrome. 61 57 54
10874301 2000
14
Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. 61 54 57
10689645 2000
15
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. 25 54 61
19727776 2010
16
A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. 61 25 54
17599048 2007
17
LKB1 gene mutations in Japanese lung cancer patients. 61 25 54
17711506 2007
18
Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour. 61 25 54
17124587 2007
19
LKB1 modulates lung cancer differentiation and metastasis. 61 25 54
17676035 2007
20
LKB1 mutation in large cell carcinoma of the lung. 54 61 25
16822578 2006
21
STK11 status and intussusception risk in Peutz-Jeghers syndrome. 54 25 61
16882735 2006
22
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 25 54 61
16287957 2005
23
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. 57 61
15863673 2005
24
Functional analysis of Peutz-Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity. 61 54 25
15800014 2005
25
LKB1, the multitasking tumour suppressor kinase. 61 54 25
15623475 2005
26
Relative frequency and morphology of cancers in STK11 mutation carriers. 61 54 25
15188174 2004
27
Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome. 25 61 54
14623934 2003
28
Regulation of the Wnt signalling component PAR1A by the Peutz-Jeghers syndrome kinase LKB1. 54 61 25
12879020 2003
29
Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 6 61
12372054 2002
30
Induction of cyclooxygenase-2 in a mouse model of Peutz-Jeghers polyposis. 25 54 61
12218179 2002
31
Hepatocellular carcinoma caused by loss of heterozygosity in Lkb1 gene knockout mice. 25 54 61
12183403 2002
32
Molecular genetic evidence of an association between nasal polyposis and the Peutz-Jeghers syndrome. 61 57
12044140 2002
33
Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 61 57
11389158 2001
34
Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. 57 61
11215281 2001
35
STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients. 57 61
10517250 1999
36
Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. 61 54 25
10441497 1999
37
Peutz-Jeghers syndrome: risks of a hereditary condition. 61 57
10499464 1999
38
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 57 61
10408777 1999
39
Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. 61 57
9727843 1998
40
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. 61 57
9475093 1998
41
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. 57 61
9399902 1997
42
Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 61 57
9288765 1997
43
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. 57 61
8988175 1997
44
A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map. 57 61
8698325 1996
45
Peutz-Jeghers syndrome in a neonate. 61 57
7776109 1995
46
Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. 57 61
7802138 1995
47
Acquired pigmentation simulating Peutz-Jeghers syndrome: initial manifestation of diffuse uveal melanocytic proliferation. 61 57
1751469 1991
48
Cancer and the Peutz-Jeghers syndrome. 57 61
2599445 1989
49
Peutz-Jeghers syndrome: a clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up. 61 57
3181678 1988
50
Increased risk of cancer in the Peutz-Jeghers syndrome. 57 61
3587280 1987

Variations for Peutz-Jeghers Syndrome

ClinVar genetic disease variations for Peutz-Jeghers Syndrome:

6 (show top 50) (show all 977)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STK11 NM_000455.4(STK11):c.580G>A (p.Asp194Asn) SNV Pathogenic 188348 rs121913315 19:1220487-1220487 19:1220488-1220488
2 STK11 NM_000455.4(STK11):c.844dup (p.Leu282fs) Duplication Pathogenic 192226 rs786205864 19:1221320-1221321 19:1221321-1221322
3 STK11 NM_000455.4(STK11):c.842del (p.Pro281fs) Deletion Pathogenic 192227 rs121913321 19:1221314-1221314 19:1221315-1221315
4 STK11 NM_000455.4(STK11):c.738C>G (p.Tyr246Ter) SNV Pathogenic 7460 rs137853083 19:1221215-1221215 19:1221216-1221216
5 STK11 NM_000455.4(STK11):c.891del (p.Arg297fs) Deletion Pathogenic 7459 rs587776661 19:1221975-1221975 19:1221976-1221976
6 STK11 NM_000455.4(STK11):c.197dup (p.Leu67fs) Duplication Pathogenic 7451 rs397518441 19:1207108-1207109 19:1207109-1207110
7 STK11 NM_000455.4(STK11):c.418del (p.Leu140fs) Deletion Pathogenic 7449 rs397518440 19:1219366-1219366 19:1219367-1219367
8 STK11 NM_000455.4(STK11):c.169G>T (p.Glu57Ter) SNV Pathogenic 7447 rs137854584 19:1207081-1207081 19:1207082-1207082
9 STK11 NM_000455.4(STK11):c.908_916del (p.Ile303_His306delinsAsn) Deletion Pathogenic 7446 rs587776660 19:1221993-1222001 19:1221994-1222002
10 STK11 NM_000455.4(STK11):c.250A>T (p.Lys84Ter) SNV Pathogenic 7443 rs137853076 19:1207162-1207162 19:1207163-1207163
11 STK11 NM_000455.4(STK11):c.465-1G>A SNV Pathogenic 7442 rs587776658 19:1220371-1220371 19:1220372-1220372
12 STK11 NM_000455.4(STK11):c.718_721del (p.Ser240fs) Deletion Pathogenic 7441 rs587776657 19:1220698-1220701 19:1220699-1220702
13 STK11 NM_000455.4(STK11):c.843del (p.Leu282fs) Deletion Pathogenic 7440 rs587776656 19:1221320-1221320 19:1221321-1221321
14 STK11 NM_000455.4(STK11):c.759C>A (p.Tyr253Ter) SNV Pathogenic 7439 rs137853075 19:1221236-1221236 19:1221237-1221237
15 STK11 STK11, EX4-5DEL/EX6-7INV Deletion Pathogenic 7438
16 STK11 NM_000455.4(STK11):c.719C>A (p.Ser240Ter) SNV Pathogenic 216070 rs730881976 19:1220701-1220701 19:1220702-1220702
17 STK11 NM_000455.4(STK11):c.394del (p.Cys132fs) Deletion Pathogenic 220968 rs864622707 19:1219342-1219342 19:1219343-1219343
18 LOC110006317 NM_000455.4(STK11):c.-1115_*16+?del Deletion Pathogenic 237784 19:1205798-1226662 19:1205799-1226663
19 STK11 NM_000455.4(STK11):c.-1115-?_290+?del Deletion Pathogenic 254061
20 LOC110006317 NC_000019.10:g.(?_1206908)_(1226652_?)del Deletion Pathogenic 267336 19:1206907-1226651 19:1206908-1226652
21 STK11 NM_000455.4(STK11):c.526G>A (p.Asp176Asn) SNV Pathogenic 182907 rs730881979 19:1220433-1220433 19:1220434-1220434
22 STK11 NM_000455.4(STK11):c.910C>T (p.Arg304Trp) SNV Pathogenic 183802 rs786201090 19:1221995-1221995 19:1221996-1221996
23 STK11 NC_000019.10:g.(?_1218417)_(1219413_?)del Deletion Pathogenic 417315 19:1218416-1219412 19:1218417-1219413
24 STK11 NM_000455.4(STK11):c.407T>C (p.Met136Thr) SNV Pathogenic 403772 rs1060499958 19:1219355-1219355 19:1219356-1219356
25 STK11 NC_000019.10:g.(?_1221949)_(1222006_?)del Deletion Pathogenic 417312 19:1221948-1222005 19:1221949-1222006
26 STK11 NM_000455.4(STK11):c.989_996del (p.Asp330fs) Deletion Pathogenic 403776 rs1060499960 19:1223050-1223057 19:1223051-1223058
27 LOC110006318 NC_000019.10:g.(?_1218417)_(1223172_?)del Deletion Pathogenic 417313 19:1218416-1223171 19:1218417-1223172
28 STK11 NM_000455.4(STK11):c.129del (p.Lys44fs) Deletion Pathogenic 403779 rs1060499961 19:1207040-1207040 19:1207041-1207041
29 STK11 NM_000455.4(STK11):c.935_936del (p.Lys312fs) Deletion Pathogenic 403780 rs397518443 19:1222997-1222998 19:1222998-1222999
30 STK11 NM_000455.4(STK11):c.842dup (p.Leu282fs) Duplication Pathogenic 403750 rs121913321 19:1221313-1221314 19:1221314-1221315
31 STK11 NM_000455.4(STK11):c.727del (p.Val243fs) Deletion Pathogenic 446257 rs1555738475 19:1220706-1220706 19:1220707-1220707
32 STK11 NM_000455.4(STK11):c.179_180dup (p.Gly61fs) Duplication Pathogenic 458034 rs1555735001 19:1207090-1207091 19:1207091-1207092
33 STK11 NM_000455.4(STK11):c.290+1G>A SNV Pathogenic 428787 rs1131690950 19:1207203-1207203 19:1207204-1207204
34 STK11 NM_000455.4(STK11):c.884_888del (p.Ala295fs) Deletion Pathogenic 458070 rs1555738863 19:1221968-1221972 19:1221969-1221973
35 STK11 NM_000455.4(STK11):c.180C>G (p.Tyr60Ter) SNV Pathogenic 428749 rs778376925 19:1207092-1207092 19:1207093-1207093
36 STK11 NM_000455.4(STK11):c.525_532dup (p.Lys178fs) Duplication Pathogenic 458050 rs1555738219 19:1220430-1220431 19:1220431-1220432
37 STK11 NC_000019.9:g.(?_1219317)_(1221345_?)del Deletion Pathogenic 458008 19:1219317-1221345
38 STK11 NM_000455.4(STK11):c.180C>A (p.Tyr60Ter) SNV Pathogenic 428750 rs778376925 19:1207092-1207092 19:1207093-1207093
39 STK11 NM_000455.4(STK11):c.816del (p.Ser271_Tyr272insTer) Deletion Pathogenic 458065 rs1555738667 19:1221293-1221293 19:1221294-1221294
40 STK11 NM_000455.4(STK11):c.109C>T (p.Gln37Ter) SNV Pathogenic 376334 rs121913324 19:1207021-1207021 19:1207022-1207022
41 STK11 NM_000455.4(STK11):c.658C>T (p.Gln220Ter) SNV Pathogenic 428776 rs1131690940 19:1220640-1220640 19:1220641-1220641
42 STK11 NM_000455.4(STK11):c.895_901dup (p.Arg301fs) Duplication Pathogenic 527814 rs1555738874 19:1221978-1221979 19:1221979-1221980
43 STK11 NM_000455.4(STK11):c.468C>G (p.Tyr156Ter) SNV Pathogenic 527815 rs786201349 19:1220375-1220375 19:1220376-1220376
44 STK11 NM_000455.4(STK11):c.157dup (p.Asp53fs) Duplication Pathogenic 527822 rs1131690917 19:1207064-1207065 19:1207065-1207066
45 STK11 NM_000455.4(STK11):c.821delinsAC (p.Ile274fs) Indel Pathogenic 527811 rs1555738683 19:1221298-1221298 19:1221299-1221299
46 STK11 NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs) Indel Pathogenic 527812 rs1555738899 19:1222003-1222004 19:1222004-1222005
47 STK11 NM_000455.4(STK11):c.1097_1108+1232del Deletion Pathogenic 527833 19:1223158-1224401 19:1223159-1224402
48 STK11 NM_000455.4(STK11):c.256C>T (p.Arg86Ter) SNV Pathogenic 527834 rs1057520039 19:1207168-1207168 19:1207169-1207169
49 STK11 NM_000455.4(STK11):c.790_793del (p.Phe264fs) Deletion Pathogenic 372523 rs121913320 19:1221264-1221267 19:1221265-1221268
50 STK11 NM_000455.4(STK11):c.291-2A>G SNV Pathogenic 230469 rs876658584 19:1218414-1218414 19:1218415-1218415

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

73
# 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 rs156871038
4 STK11 p.Trp239Cys VAR_033142 rs137853082
5 STK11 p.Pro315Ser VAR_033144 rs786202431
6 STK11 p.Glu16Gly VAR_065628
7 STK11 p.Asp176Asn VAR_071058 rs730881979
8 STK11 p.Trp308Cys VAR_071059 rs105752004

Copy number variations for Peutz-Jeghers Syndrome from CNVD:

7
# CNVD ID Chromosome 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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
2
Show member pathways
12.92 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
3
Show member pathways
12.81 TSC2 TP53 SMAD4 PTEN CTNNB1 BRCA2
4
Show member pathways
12.81 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
5 12.79 TP53 SMAD4 PTEN CTNNB1 BRCA2 APC
6
Show member pathways
12.72 TP53 SMAD4 PTEN CTNNB1 BRCA2 APC
7
Show member pathways
12.65 TSC2 TSC1 TP53 PTEN BRCA2
8 12.46 TSC2 STK11 PTEN PRKAA2 MARK1 CYP19A1
9
Show member pathways
12.45 TSC2 TSC1 TP53 STK11 PRKAA2
10
Show member pathways
12.35 TSC2 TSC1 STK11 PRKAA2
11
Show member pathways
12.34 TSC2 TSC1 TP53 PTEN
12
Show member pathways
12.29 TSC2 TP53 PTEN CTNNB1 APC
13
Show member pathways
12.27 TSC2 TSC1 TP53 STK11 PTEN PRKAA2
14
Show member pathways
12.18 TSC2 TSC1 STK11 PRKAR1A PRKAA2
15 12.15 TP53 SMAD4 PRKAR1A CTNNB1 APC
16 12.14 TP53 SMAD4 CTNNB1 APC
17 12.12 TSC2 TSC1 TP53 PTEN
18
Show member pathways
12.09 TSC2 TSC1 TP53 STK11 PRKAA2
19 12.08 TSC2 PRKAA2 CTNNB1 APC
20
Show member pathways
12.05 STK11 SMAD4 PTEN PRKAA2
21 11.99 TSC2 TSC1 STK11 PTEN PRKAA2
22 11.95 TSC2 TP53 PTEN ARID3A APC
23 11.86 TP53 SMAD4 PTEN CTNNB1 APC
24
Show member pathways
11.84 TSC2 TSC1 PRKAA2
25 11.8 TSC2 TSC1 PTEN
26 11.79 SMAD4 PTEN CTNNB1
27 11.68 TSC2 TSC1 TP53 PTEN CTNNB1 APC
28 11.65 TSC2 TSC1 TP53 PTEN PRKAA2
29 11.55 TP53 PTEN APC
30 11.53 STK11 PRKAR1A PRKAA2
31 11.5 TSC2 TSC1 CTNNB1 APC
32 11.46 TSC2 TSC1 TP53 STK11 SMAD4 PTEN
33 11.36 TP53 PTEN APC
34 11.24 SMAD4 CTNNB1 APC
35 11.06 TSC2 TSC1 TP53 STK11IP STK11 SMAD4

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 cytoplasm GO:0005737 10.03 TSC2 TSC1 TP53 STK11IP STK11 SMAD4
2 centrosome GO:0005813 9.43 TP53 SMAD4 PRKAR1A CTNNB1 BRCA2 APC
3 beta-catenin destruction complex GO:0030877 9.32 CTNNB1 APC
4 Wnt signalosome GO:1990909 9.26 CTNNB1 APC
5 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.86 TP53 SMAD4 PTEN APC
2 Wnt signaling pathway GO:0016055 9.81 PRKAA2 MARK1 CTNNB1 APC
3 regulation of cell proliferation GO:0042127 9.78 TP53 SMAD4 INHA CTNNB1
4 protein localization GO:0008104 9.71 TSC2 TP53 STK11IP
5 canonical Wnt signaling pathway GO:0060070 9.67 STK11 PTEN CTNNB1
6 heart development GO:0007507 9.65 TSC2 TP53 PTEN PRKAR1A CTNNB1
7 negative regulation of TOR signaling GO:0032007 9.58 TSC2 TSC1 PRKAA2
8 negative regulation of oxidative stress-induced neuron death GO:1903204 9.57 TSC1 CTNNB1
9 anoikis GO:0043276 9.55 TSC2 STK11
10 regulation of cell cycle GO:0051726 9.55 TSC2 TSC1 TP53 PTEN INHA
11 positive regulation of macroautophagy GO:0016239 9.54 TSC2 TSC1 PRKAA2
12 negative regulation of cell size GO:0045792 9.52 TSC1 PTEN
13 female gonad development GO:0008585 9.5 SMAD4 CYP19A1 BRCA2
14 negative regulation of mitophagy GO:1901525 9.46 TSC2 TP53
15 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.43 SMAD4 INHA
16 cell cycle arrest GO:0007050 9.35 TP53 STK11 PRKAA2 INHA APC
17 negative regulation of cell proliferation GO:0008285 9.23 TSC2 TSC1 TP53 STK11 SMAD4 PTEN

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.55 TP53 STK11IP PTEN CTNNB1 APC
2 chromatin binding GO:0003682 9.35 TP53 SMAD4 PRKAA2 CTNNB1 ARID3A
3 I-SMAD binding GO:0070411 9.26 SMAD4 CTNNB1
4 RNA polymerase II transcription factor binding GO:0001085 8.8 TP53 SMAD4 CTNNB1

Sources for Peutz-Jeghers Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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