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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 52 11 71 23 48 24 25 54 70 27 12 50 39 13 68
Pjs 23 48 24 25 54 70
Polyps-and-Spots Syndrome 48 25 70
Polyposis, Hamartomatous Intestinal 48 25
Periorificial Lentiginosis Syndrome 48 25
Hamartomatous Intestinal Polyposis 24 54
Lentiginosis, Perioral 48 25
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 25
Peutz-Jeghers Polyp of Small Intestine 11
Peutz-Jeghers Polyps of Small Bowel 68
Peutz-Jeghers Small Bowel Hamartoma 11
Peutz-Jeghers Polyp of the Stomach 68
 
Intestinal Hamartomatous Polyposis 70
Colonic Hamartomatous Polyp 11
Gastric Peutz-Jeghers Polyp 11
Peutz Jeghers Colon Polyp 11
Polyposis, Intestinal, Ii 25
Polyps and Spots Syndrome 54
Peutz Jeghers Polyposis 48
Peutz-Jeghers Polyposis 25
Hamartomatous Polyp 68
Peutz Jehgers Polyp 68
Peutz Jeghers Polyp 11

Characteristics:

Orphanet epidemiological data:

54
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult

HPO:

64
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:

OMIM52 175200
Disease Ontology11 DOID:3852
ICD1030 Q85.8
MeSH39 D010580
Orphanet54 ORPHA2869
ICD10 via Orphanet31 Q85.8
MESH via Orphanet40 D010580
UMLS via Orphanet69 C0031269
MedGen37 C0031269

Summaries for Peutz-Jeghers Syndrome

About this section
NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways are Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex and Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds. Affiliated tissues include colon, small intestine and eye, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Increased mitotic index.

UniProtKB/Swiss-Prot:70 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:52 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal... (175200) more...

Wikipedia:71 Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder... more...

GeneReviews for NBK1266

Related Diseases for Peutz-Jeghers Syndrome

About this section

Diseases related to Peutz-Jeghers Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer29.0APC, BRCA2, CTNNB1, MUC6, PTEN, SMAD4
2pancreatic cancer11.6
3gastric cancer11.5
4hereditary mixed polyposis syndrome 111.2
5gastric cancer, somatic11.1
6bannayan-riley-ruvalcaba syndrome11.1
7carney complex, type 111.1
8ovarian cancer11.1
9bier spots11.1
10childhood ovarian cancer11.1
11familial stomach cancer11.1
12intussusception10.7
13adenocarcinoma10.6
14sertoli cell tumor10.5
15adenoma10.5
16pancreatitis10.5
17ovarian sex cord tumor with annular tubules10.4
18gynecomastia10.4
19cervicitis10.4
20breast cancer10.3
21endocervicitis10.3
22pierre robin syndrome and oligodactyly10.2PTEN, SMAD4
23duodenitis10.2
24prostate cancer, hereditary, x-linked 110.2PTEN, STK11, TP53
25melorheostosis with osteopoikilosis10.2TSC1, TSC2
26infantile thalamic degeneration10.2APC, TP53
27thyroiditis10.2
28macular degeneration, early-onset10.2APC, CTNNB1
29mitochondrial neurogastrointestinal encephalopathy disease10.2APC, SMAD4, TP53
30familial hypopituitarism10.2APC, SMAD4, TP53
31lung clear cell-sugar-tumor10.2BRCA2, TP53
32neurological consequences of cytomegalovirus infection10.2PTEN, STK11, TSC1
33multiple mitochondrial dysfunctions syndrome 110.1PTEN, TSC1, TSC2
34hypothalamic adipsic hypernatraemia syndrome10.1BRCA2, SMAD4
35breast ductal carcinoma10.1CTNNB1, PTEN, TP53
36gastric adenocarcinoma10.1
37cervical adenoma malignum10.1
38bilateral breast cancer10.1
39intestinal obstruction10.1
40gastroduodenitis10.1
41adult syndrome10.1CTNNB1, PTEN, TP53
42villoglandular endometrial endometrioid adenocarcinoma10.1BRCA2, PTEN, TP53
43focal cortical dysplasia, taylor balloon cell type10.1PTEN, TSC1, TSC2
44inner ear cancer10.1TP53, TSC1, TSC2
45bronchogenic cyst10.1APC, BRCA2, PTEN
46bronchiectasis oligospermia10.1APC, BRCA2, PTEN
47dfnb110.1APC, CTNNB1
48htr2a-related altered drug metabolism10.1APC, MUC6
49pituitary stalk meningioma10.1BRCA2, PTEN, TP53
50prostatic adenoma10.1CTNNB1, 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

About this section

Symptoms by clinical synopsis from OMIM:

175200

Clinical features from OMIM:

175200

Human phenotypes related to Peutz-Jeghers Syndrome:

 54 64 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ureter64 54 Occasional (29-5%) HP:0000069
2 abnormality of the nose54 Occasional (29-5%)
3 multiple lentigines64 54 Very frequent (99-80%) HP:0001003
4 anemia64 54 Occasional (29-5%) HP:0001903
5 vomiting64 54 Occasional (29-5%) HP:0002013
6 abdominal pain64 54 Occasional (29-5%) HP:0002027
7 rectal prolapse64 54 Occasional (29-5%) HP:0002035
8 abnormality of the respiratory system54 Occasional (29-5%)
9 gastrointestinal hemorrhage64 54 Frequent (79-30%) HP:0002239
10 neoplasm54 Occasional (29-5%)
11 gastrointestinal carcinoma64 54 Very frequent (99-80%) HP:0002672
12 breast carcinoma64 54 Occasional (29-5%) HP:0003002
13 intestinal obstruction64 54 Occasional (29-5%) HP:0005214
14 gastrointestinal infarctions64 54 Occasional (29-5%) HP:0005244
15 abnormality of the gallbladder64 54 Occasional (29-5%) HP:0005264
16 multiple renal cysts64 54 Occasional (29-5%) HP:0005562
17 renal cell carcinoma64 54 Occasional (29-5%) HP:0005584
18 pancreatic adenocarcinoma64 54 Occasional (29-5%) HP:0006725
19 enlarged polycystic ovaries64 54 Occasional (29-5%) HP:0008675
20 abnormality of the gastrointestinal tract54 Very frequent (99-80%)
21 stomach cancer64 54 Occasional (29-5%) HP:0012126
22 neoplasm of the nose64 54 Occasional (29-5%) HP:0012720
23 macule54 Very frequent (99-80%)
24 cervix cancer64 54 Occasional (29-5%) HP:0030079
25 neoplasm of the colon64 54 Occasional (29-5%) HP:0100273
26 neoplasm of the lung64 54 Occasional (29-5%) HP:0100526
27 biliary tract neoplasm64 54 Occasional (29-5%) HP:0100574
28 nasal polyposis64 54 Occasional (29-5%) HP:0100582
29 melanonychia64 54 Occasional (29-5%) HP:0100644
30 abnormal pigmentation of the oral mucosa64 54 Very frequent (99-80%) HP:0100669
31 neoplasm of the rectum64 54 Occasional (29-5%) HP:0100743
32 esophageal neoplasm64 54 Occasional (29-5%) HP:0100751
33 neoplasm of the small intestine64 54 Occasional (29-5%) HP:0100833
34 ovarian cyst64 HP:0000138
35 abnormality of the mouth64 HP:0000153
36 gynecomastia64 HP:0000771
37 hypermelanotic macule64 HP:0001034
38 biliary tract abnormality64 HP:0001080
39 iron deficiency anemia64 HP:0001891
40 intussusception64 HP:0002576
41 intestinal bleeding64 HP:0002584
42 neoplasm of the pancreas64 HP:0002894
43 hamartomatous polyposis64 HP:0004390
44 precocious puberty with sertoli cell tumor64 HP:0008204
45 clubbing of fingers64 HP:0100759

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.6PTEN, SMAD4
2GR00110-A-010.0PRKAA2, SMAD4, STK11
3GR00016-A9.0APC, BRCA2, SMAD4, TSC1, TSC2

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

41 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0APC, CTNNB1, CYP19A1, PRKAA2, TP53
2MP:00011868.2APC, CTNNB1, CYP19A1, PTCH1, PTEN, TP53
3MP:00053828.2APC, CTNNB1, PTCH1, SMAD4, STK11, TP53
4MP:00053888.1CTNNB1, PTCH1, PTEN, STK11, TP53, TSC1
5MP:00053917.5APC, CTNNB1, CYP19A1, PTCH1, PTEN, STK11
6MP:00053717.4APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
7MP:00053706.9APC, CTNNB1, CYP19A1, PTEN, SMAD4, STK11
8MP:00053906.7APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
9MP:00053876.7APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
10MP:00020066.7APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
11MP:00053806.7APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
12MP:00053696.6APC, CTNNB1, CYP19A1, PRKAA2, PTCH1, PTEN
13MP:00053816.6APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
14MP:00053856.6APC, CTNNB1, CYP19A1, PTCH1, PTEN, SMAD4
15MP:00107686.5APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
16MP:00028736.5APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
17MP:00053676.5APC, CTNNB1, CYP19A1, PRKAA2, PTCH1, PTEN
18MP:00053896.3APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
19MP:00053865.9APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
20MP:00053765.9APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
21MP:00107715.9APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
22MP:00053845.9APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
23MP:00053785.8APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
24MP:00053975.8APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
25MP:00053795.7APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
26MP:00036315.6APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1

Drugs & Therapeutics for Peutz-Jeghers Syndrome

About this section

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

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Secretinapproved, investigationalPhase 1, Phase 231108153-74-8
Synonyms:
108153-74-8
1393-25-5
67307-60-2 (citrate (salt))
9002-77-1
EINECS 215-733-3
Hormone of the duodenal mucosa that activates pancreatic secretion and lowers the blood sugar level
Human secretin
I06-1828
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-aspartyl-L-seryl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
L-Histidyl-L-seryl-L-alpha-aspartylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-glutamyl-L-leucyl-L-seryl-L-arginyl-L-leucyl-L-arginyl-L-alpha-glutamylglycyl-L-alanyl-L-arginyl-L-leucyl-L-glutaminyl-L-arginyl-L-leucyl-L-leucyl-L-glutaminylglycyl-L-leucyl-L-valinamide
LS-144747
RG 1068
SECREFLO
SECRETIN
SECRETIN-FERRING
 
SecreFlow
Secrepan
Secretin (human)
Secretin (porcine)
Secretin [INN:BAN:DCF:JAN]
Secretin-Kabi
Secretina
Secretina [INN-Spanish]
Secretine
Secretine [INN-French]
Secretinum
Secretinum [INN-Latin]
Secretolin
UNII-88C55N56UU
UNII-A0426J905J
Vitrum
2
PancrelipaseapprovedPhase 1, Phase 297053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3
EverolimusapprovedPhase 21940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
4
Sirolimusapproved, investigationalPhase 2194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
5
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
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7HormonesPhase 1, Phase 214415
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 213168
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17Mitogens1617
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19Racepinephrine985
20serineNutraceutical954

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers SyndromeTerminatedNCT00811590Phase 2
2Secretin (ChiRhoStim) Pancreas Perfusion for Pancreatic AdenocarcinomaTerminatedNCT00587132Phase 1, Phase 2
3Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers SyndromeWithdrawnNCT01178151Phase 2
4Cancer of the Pancreas Screening Study (CAPS 3)CompletedNCT00438906
5Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)CompletedNCT00668291
6Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study)CompletedNCT00714701
7Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
8The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
9Pancreas Registry and High Risk RegistryRecruitingNCT02775461
10Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
11Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
12Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation StudyRecruitingNCT01838577
13Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric CancerRecruitingNCT03030404
14Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
15Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632
16Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
17International CAPS Registry: Pancreas Cancer Cases in Surveillance ProgramsEnrolling by invitationNCT02703545

Search NIH Clinical Center for Peutz-Jeghers Syndrome


Cochrane evidence based reviews: peutz-jeghers syndrome

Genetic Tests for Peutz-Jeghers Syndrome

About this section

Genetic tests related to Peutz-Jeghers Syndrome:

id Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome27 24 STK11

Anatomical Context for Peutz-Jeghers Syndrome

About this section

MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

36
Colon, Small intestine, Eye, Breast, Cervix, Ovary, Skin

Publications for Peutz-Jeghers Syndrome

About this section

Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 589)
idTitleAuthorsYear
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

About this section

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

70
id Symbol AA change Variation ID SNP ID
1STK11p.Leu67ProVAR_006202rs137853077
2STK11p.Asp194AsnVAR_007921rs121913315
3STK11p.Arg297LysVAR_007922
4STK11p.Trp239CysVAR_033142rs137853082
5STK11p.Pro315SerVAR_033144rs786202431
6STK11p.Glu16GlyVAR_065628
7STK11p.Asp176AsnVAR_071058rs730881979
8STK11p.Trp308CysVAR_071059

Clinvar genetic disease variations for Peutz-Jeghers Syndrome:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1STK11NM_ 000455.4(STK11): c.908T> G (p.Ile303Ser)SNVLikely pathogenicrs727504171GRCh37Chr 19, 1221993: 1221993
2STK11NM_ 000455.4(STK11): c.921-2A> TSNVPathogenicrs727504172GRCh37Chr 19, 1222982: 1222982
3STK11NM_ 000455.4(STK11): c.988dupG (p.Asp330Glyfs)duplicationPathogenicrs786200991GRCh37Chr 19, 1223051: 1223051
4STK11NM_ 000455.4(STK11): c.526G> A (p.Asp176Asn)SNVLikely pathogenicrs730881979GRCh38Chr 19, 1220434: 1220434
5STK11NM_ 000455.4(STK11): c.910C> T (p.Arg304Trp)SNVPathogenic/ Likely pathogenicrs786201090GRCh37Chr 19, 1221995: 1221995
6STK11NM_ 000455.4(STK11): c.580G> A (p.Asp194Asn)SNVPathogenic/ Likely pathogenicrs121913315GRCh37Chr 19, 1220487: 1220487
7STK11NM_ 000455.4(STK11): c.844dupC (p.Leu282Profs)duplicationPathogenicrs786205864GRCh37Chr 19, 1221321: 1221321
8STK11NM_ 000455.4(STK11): c.842delC (p.Pro281Argfs)deletionPathogenicrs121913321GRCh38Chr 19, 1221320: 1221320
9STK11NM_ 000455.4(STK11): c.863-1G> ASNVLikely pathogenicrs863224448GRCh38Chr 19, 1221948: 1221948
10STK11NM_ 000455.4(STK11): c.719C> A (p.Ser240Ter)SNVPathogenicrs730881976GRCh38Chr 19, 1220702: 1220702
11STK11NM_ 000455.4(STK11): c.923G> T (p.Trp308Leu)SNVLikely pathogenicrs864622488GRCh38Chr 19, 1222987: 1222987
12STK11NM_ 000455.4(STK11): c.394delT (p.Cys132Alafs)deletionPathogenicrs864622707GRCh38Chr 19, 1219343: 1219343
13STK11NM_ 000455.4(STK11): c.709G> T (p.Asp237Tyr)SNVLikely pathogenicrs878853247GRCh37Chr 19, 1220691: 1220691
14STK11NM_ 000455.4(STK11): c.-1115_ *16+?deldeletionPathogenicGRCh38Chr 19, 1205799: 1226663
15STK11NM_ 000455.4(STK11): c.-1115-?_ 290+?deldeletionPathogenic
16STK11NM_ 000455.4(STK11): c.541A> G (p.Asn181Asp)SNVLikely pathogenicrs886037926GRCh38Chr 19, 1220449: 1220449
17STK11NM_ 000455.4(STK11): c.542A> G (p.Asn181Ser)SNVLikely pathogenicrs886037859GRCh37Chr 19, 1220449: 1220449
18STK11NC_ 000019.10: g.(?_ 1206908)_ (1226652_ ?)deldeletionPathogenicGRCh38Chr 19, 1206908: 1226652
19STK11NM_ 000455.4(STK11): c.644G> A (p.Gly215Asp)SNVLikely pathogenicrs1057520038GRCh37Chr 19, 1220626: 1220626
20STK11NM_ 000455.4(STK11): c.323A> G (p.Lys108Arg)SNVLikely pathogenicrs1057520040GRCh37Chr 19, 1218448: 1218448
21STK11NM_ 000455.4(STK11): c.530T> A (p.Ile177Asn)SNVLikely pathogenicrs1057520041GRCh37Chr 19, 1220437: 1220437
22STK11NM_ 000455.4(STK11): c.924G> C (p.Trp308Cys)SNVLikely pathogenicrs1057520042GRCh37Chr 19, 1222987: 1222987
23STK11NM_ 000455.4(STK11): c.842dupC (p.Leu282Alafs)duplicationPathogenicGRCh38Chr 19, 1221320: 1221320
24STK11NM_ 000455.4(STK11): c.989_ 996delACCGGTGG (p.Asp330Alafs)deletionPathogenicrs1060499960GRCh38Chr 19, 1223053: 1223060
25STK11NM_ 000455.4(STK11): c.129delC (p.Lys44Serfs)deletionPathogenicrs1060499961GRCh38Chr 19, 1207042: 1207042
26STK11NM_ 000455.4(STK11): c.935_ 936delAA (p.Lys312Thrfs)deletionPathogenicrs1060499962GRCh38Chr 19, 1222999: 1223000
27STK11NC_ 000019.10: g.(?_ 1221949)_ (1222006_ ?)deldeletionPathogenicGRCh38Chr 19, 1221949: 1222006
28STK11NC_ 000019.10: g.(?_ 1218417)_ (1223172_ ?)deldeletionPathogenicGRCh37Chr 19, 1218416: 1223171
29STK11NC_ 000019.10: g.(?_ 1218417)_ (1219413_ ?)deldeletionPathogenicGRCh37Chr 19, 1218416: 1219412
30STK11STK11, EX4-5DEL/EX6-7INVdeletionPathogenic
31STK11NM_ 000455.4(STK11): c.759C> A (p.Tyr253Ter)SNVPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
32STK11NM_ 000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicrs587776656GRCh38Chr 19, 1221321: 1221321
33STK11NM_ 000455.4(STK11): c.718_ 721delTCGG (p.Ser240Leufs)deletionPathogenicrs587776657GRCh38Chr 19, 1220701: 1220704
34STK11NM_ 000455.4(STK11): c.465-1G> ASNVPathogenicrs587776658GRCh38Chr 19, 1220372: 1220372
35STK11NM_ 000455.4(STK11): c.250A> T (p.Lys84Ter)SNVPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
36STK11NM_ 000455.4(STK11): c.834_ 835delTG (p.Cys278Trpfs)deletionPathogenicrs587776659GRCh38Chr 19, 1221312: 1221313
37STK11NM_ 000455.4(STK11): c.200T> C (p.Leu67Pro)SNVPathogenic/ Likely pathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
38STK11NM_ 000455.4(STK11): c.908_ 916delTCCGGCAGC (p.Ile303_ His306delinsAsn)deletionPathogenicrs587776660GRCh38Chr 19, 1221994: 1222002
39STK11NM_ 000455.4(STK11): c.169G> T (p.Glu57Ter)SNVPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
40STK11NM_ 000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
41STK11NM_ 000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
42STK11NM_ 000455.4(STK11): c.717G> C (p.Trp239Cys)SNVPathogenic/ Likely pathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
43STK11NM_ 000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicrs587776661GRCh37Chr 19, 1221976: 1221976
44STK11NM_ 000455.4(STK11): c.738C> G (p.Tyr246Ter)SNVPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
45STK11NM_ 000455.4(STK11): c.169dupG (p.Glu57Glyfs)duplicationPathogenicrs398123404GRCh37Chr 19, 1207081: 1207081
46STK11NM_ 000455.4(STK11): c.877G> T (p.Glu293Ter)SNVPathogenicrs398123405GRCh37Chr 19, 1221962: 1221962
47STK11NM_ 000455.4(STK11): c.921-1G> TSNVPathogenicrs398123406GRCh37Chr 19, 1222983: 1222983

Copy number variations for Peutz-Jeghers Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11242161916900000Copy numberSTK11Peutz-jeghers syndrome

Expression for genes affiliated with Peutz-Jeghers Syndrome

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Search GEO for disease gene expression data for Peutz-Jeghers Syndrome.

Pathways for genes affiliated with Peutz-Jeghers Syndrome

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

(show all 48)
idSuper pathwaysScoreTop Affiliating Genes
19.8PTEN, SMAD4
29.7APC, CTNNB1
39.7APC, CTNNB1
49.6PTEN, TSC1, TSC2
5
Show member pathways
9.6PRKAA2, TSC1, TSC2
6
Show member pathways
9.5CTNNB1, PTEN, TSC2
79.4CTNNB1, PTEN, SMAD4
8
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
9
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
10
Show member pathways
9.3PRKAA2, PTEN, TSC1, TSC2
119.3CTNNB1, PRKAA2, TP53
129.3CTNNB1, TP53, TSC2
139.3APC, PTEN, TP53
149.3APC, PTEN, TP53
159.2APC, CTNNB1, SMAD4
169.2APC, CTNNB1, SMAD4
179.2APC, CTNNB1, SMAD4
189.2PTEN, SMAD4, TP53
19
Show member pathways
9.2PRKAA2, PTEN, SMAD4, STK11
209.1APC, CTNNB1, PRKAA2, TSC2
219.1APC, CTNNB1, TSC1, TSC2
22
Show member pathways
9.1PTEN, TP53, TSC1, TSC2
23
Show member pathways
9.1PTEN, TP53, TSC1, TSC2
249.0PRKAA2, PTEN, STK11, TSC1, TSC2
259.0CYP19A1, PRKAA2, PTEN, STK11, TSC2
269.0APC, PTEN, TP53, TSC2
27
Show member pathways
9.0BRCA2, SMAD4, TP53
28
Show member pathways
8.8PRKAA2, STK11, TP53, TSC1, TSC2
29
Show member pathways
8.8PRKAA2, STK11, TP53, TSC1, TSC2
308.8PRKAA2, PTEN, TP53, TSC1, TSC2
318.7APC, CTNNB1, SMAD4, TP53
32
Show member pathways
8.7APC, CTNNB1, SMAD4, TP53
338.7APC, CTNNB1, SMAD4, TP53
348.6SMAD4, STK11, TP53, TSC1, TSC2
35
Show member pathways
8.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
368.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
37
Show member pathways
8.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
388.4APC, CTNNB1, PTEN, SMAD4, TP53
398.4APC, CTNNB1, PTCH1, SMAD4
40
Show member pathways
8.3APC, CTNNB1, PTCH1, TP53
418.3APC, CTNNB1, PTEN, TP53, TSC1, TSC2
42
Show member pathways
8.1APC, CTNNB1, PTEN, SMAD4, TP53, TSC2
43
Show member pathways
8.1APC, PRKAA2, PTEN, STK11, TP53, TSC1
44
Show member pathways
7.8APC, BRCA2, CTNNB1, PTEN, TP53, TSC1
457.1BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4, STK11
467.1APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
47
Show member pathways
6.5APC, CTNNB1, PRKAA2, PTCH1, PTEN, SMAD4
48
Show member pathways
6.5APC, CTNNB1, PRKAA2, PTCH1, PTEN, SMAD4

GO Terms for genes affiliated with Peutz-Jeghers Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:003087710.5APC, CTNNB1
2catenin complexGO:001634210.5APC, CTNNB1
3TSC1-TSC2 complexGO:003359610.1TSC1, TSC2
4Wnt signalosomeGO:19909099.7APC, CTNNB1
5centrosomeGO:00058139.5APC, BRCA2, CTNNB1, SMAD4
6perinuclear region of cytoplasmGO:00484718.5APC, CTNNB1, PTCH1, TSC1, TSC2
7nucleoplasmGO:00056548.1APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4
8cytosolGO:00058297.5APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1anoikisGO:004327610.7STK11, TSC2
2negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.6PTEN, TSC2
3negative regulation of cell sizeGO:004579210.6PTEN, TSC1
4prostate gland growthGO:006073610.5CYP19A1, PTEN
5negative regulation of oxidative stress-induced neuron deathGO:190320410.5CTNNB1, TSC1
6beta-catenin destruction complex disassemblyGO:190488610.5APC, CTNNB1
7gastrulation with mouth forming secondGO:000170210.4CTNNB1, SMAD4
8positive regulation of histone H3-K4 methylationGO:005157110.4CTNNB1, SMAD4
9negative regulation of TOR signalingGO:003200710.3PRKAA2, TSC1, TSC2
10positive regulation of macroautophagyGO:001623910.3PRKAA2, TSC1, TSC2
11regulation of cell cycleGO:005172610.2PTEN, TSC1, TSC2
12DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.2BRCA2, TP53
13kidney developmentGO:000182210.1CTNNB1, SMAD4, TSC1
14cell fate determinationGO:000170910.0CTNNB1, PTCH1
15uterus developmentGO:006006510.0CYP19A1, SMAD4
16regulation of signal transduction by p53 class mediatorGO:190179610.0PRKAA2, STK11, TP53
17negative regulation of cell growthGO:003030810.0SMAD4, STK11, TP53
18canonical Wnt signaling pathwayGO:00600709.9APC, CTNNB1, PTEN, STK11
19female gonad developmentGO:00085859.9BRCA2, CYP19A1, SMAD4
20glucose homeostasisGO:00425939.9PRKAA2, PTCH1, STK11
21response to X-rayGO:00101659.9BRCA2, TP53
22vasculature developmentGO:00019449.8CTNNB1, STK11
23renal system developmentGO:00720019.8CTNNB1, PTCH1
24neural tube closureGO:00018439.8PTCH1, TSC1, TSC2
25positive regulation of apoptotic processGO:00430659.6APC, CTNNB1, PTEN, TP53
26branching involved in ureteric bud morphogenesisGO:00016589.6CTNNB1, PTCH1, SMAD4
27response to estradiolGO:00323559.5CTNNB1, PTCH1, PTEN
28protein deubiquitinationGO:00165799.5APC, PTEN, SMAD4, TP53
29cell cycle arrestGO:00070509.1APC, PRKAA2, STK11, TP53, TSC1, TSC2
30cell proliferationGO:00082839.1BRCA2, CTNNB1, PTEN, SMAD4, TP53
31positive regulation of transcription, DNA-templatedGO:00458938.5BRCA2, CTNNB1, PTCH1, SMAD4, TP53
32negative regulation of cell proliferationGO:00082857.5APC, CTNNB1, PTCH1, PTEN, SMAD4, STK11

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

idNameGO IDScoreTop Affiliating Genes
1I-SMAD bindingGO:007041110.3CTNNB1, SMAD4
2chromatin bindingGO:00036829.5CTNNB1, PRKAA2, SMAD4, TP53
3protein kinase bindingGO:00199019.4APC, CTNNB1, PTEN, TP53
4RNA polymerase II transcription factor bindingGO:00010859.1CTNNB1, SMAD4, TP53

Sources for Peutz-Jeghers Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet