MCID: PTZ001
MIFTS: 71

Peutz-Jeghers Syndrome malady

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

Aliases & Classifications for Peutz-Jeghers Syndrome

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 50 11 69 22 46 23 24 13 52 68 25 12 48 37 66
Pjs 22 46 23 24 52 68
Polyps-and-Spots Syndrome 46 24 68
Periorificial Lentiginosis Syndrome 46 24
Polyposis, Hamartomatous Intestinal 46 24
Hamartomatous Intestinal Polyposis 23 52
Lentiginosis, Perioral 46 24
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 24
Peutz-Jeghers Polyp of Small Intestine 11
Peutz-Jeghers Polyps of Small Bowel 66
Peutz-Jeghers Small Bowel Hamartoma 11
Peutz-Jeghers Polyp of the Stomach 66
 
Intestinal Hamartomatous Polyposis 68
Colonic Hamartomatous Polyp 11
Gastric Peutz-Jeghers Polyp 11
Peutz Jeghers Colon Polyp 11
Polyposis, Intestinal, Ii 24
Polyps and Spots Syndrome 52
Peutz Jeghers Polyposis 46
Peutz-Jeghers Polyposis 24
Hamartomatous Polyp 66
Peutz Jehgers Polyp 66
Peutz Jeghers Polyp 11

Characteristics:

Orphanet epidemiological data:

52
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult

HPO:

62
peutz-jeghers syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 175200
Disease Ontology11 DOID:3852
ICD1028 Q85.8
MeSH37 D010580
Orphanet52 ORPHA2869
ICD10 via Orphanet29 Q85.8
MESH via Orphanet38 D010580
UMLS via Orphanet67 C0031269
MedGen35 C0031269

Summaries for Peutz-Jeghers Syndrome

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NIH Rare Diseases:46 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 mucinous adenocarcinoma and breast cancer, and has symptoms including melanocytic nevus, hypermelanotic macule and abnormal pigmentation of the oral mucosa. An important gene associated with Peutz-Jeghers Syndrome is STK11 (Serine/Threonine Kinase 11), and among its related pathways are PI3K / Akt Signaling and Transcription Androgen Receptor nuclear signaling. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

UniProtKB/Swiss-Prot:68 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:24 Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.

OMIM:50 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal... (175200) more...

Wikipedia:69 Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized... more...

GeneReviews summary for NBK1266

Related Diseases for Peutz-Jeghers Syndrome

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

(show top 50)    (show all 168)
idRelated DiseaseScoreTop Affiliating Genes
1mucinous adenocarcinoma29.4APC, BRCA2, SMAD4, STK11, TP53
2breast cancer28.5APC, BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4
3colorectal cancer27.5APC, BRCA2, CTNNB1, MUC6, PTEN, SMAD4
4pancreatic cancer10.9
5intussusception10.9
6adenocarcinoma10.8
7adenoma10.7
8sertoli cell tumor10.6
9pancreatitis10.6
10ovarian sex cord tumor with annular tubules10.6
11ehlers-danlos syndrome, type viic10.5APC, CTNNB1
12uterine corpus epithelioid leiomyosarcoma10.5PTEN, TP53
13gynecomastia10.5
14glioma susceptibility 210.5PTEN, SMAD4
15cervicitis10.5
16prostate cancer, hereditary, x-linked 110.5PTEN, STK11, TP53
17dubin-johnson syndrome10.5PTEN, STK11, TP53
18ampulla of vater squamous cell carcinoma10.5APC, TP53
19colver steer godman syndrome10.5APC, TP53
20autosomal recessive optic atrophy, opa8 type10.5BRCA2, SMAD4
21camera marugo cohen syndrome10.4PTCH1, TP53
22renal pelvis inverted papilloma10.4PTCH1, TP53
23cervical serous adenocarcinoma10.4BRCA2, TP53
24vulvar benign neoplasm10.4PTCH1, TP53
25brainstem intraparenchymal clear cell meningioma10.4PTCH1, TP53
26nodular degeneration of cornea10.4CTNNB1, PTEN, TP53
27endocervicitis10.4
28brown-vialetto-van laere syndrome10.4CTNNB1, PTEN, TP53
29colonic pseudo-obstruction10.4CTNNB1, PTCH1
30amyloid tumor10.4BRCA2, PTEN
31paroxysmal nocturnal hemoglobinuria10.4CTNNB1, SMAD4, TP53
32duodenitis10.4
33ovarian brenner tumor10.3BRCA2, TP53
34immune system organ benign neoplasm10.3CTNNB1, TP53
35thyroiditis10.3
36male reproductive organ benign neoplasm10.3CTNNB1, TP53, TSC2
37rectum mucinous adenocarcinoma10.3BRCA2, TP53
38dysgammaglobulinemia10.3PTCH1, TSC2
39malignant hyperthermia susceptibility10.3APC, SMAD4, TP53
40familial breast cancer10.3APC, BRCA2
41breast cancer, childhood10.3APC, BRCA2
42buschke-ollendorff syndrome10.3TSC1, TSC2
43tracheal disease10.3CTNNB1, PTEN, TP53
44hereditary mixed polyposis syndrome 110.3
45mismatch repair cancer syndrome10.3APC, CTNNB1, PTEN
46esophagus verrucous carcinoma10.3PTEN, TP53
47childhood optic tract astrocytoma10.3CTNNB1, SMAD4, TP53
48gastric cancer10.3
49gastric adenocarcinoma10.3
50cervical adenoma malignum10.3

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



Diseases related to peutz-jeghers syndrome

Symptoms for Peutz-Jeghers Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

175200

Clinical features from OMIM:

175200

Symptoms:

 52 (show all 33)
  • abnormality of the ureter
  • abnormality of the nose
  • multiple lentigines
  • anemia
  • vomiting
  • abdominal pain
  • rectal prolapse
  • abnormality of the respiratory system
  • gastrointestinal hemorrhage
  • neoplasm
  • gastrointestinal carcinoma
  • breast carcinoma
  • intestinal obstruction
  • gastrointestinal infarctions
  • abnormality of the gallbladder
  • multiple renal cysts
  • renal cell carcinoma
  • pancreatic adenocarcinoma
  • enlarged polycystic ovaries
  • abnormality of the gastrointestinal tract
  • stomach cancer
  • neoplasm of the nose
  • macule
  • cervix cancer
  • neoplasm of the colon
  • neoplasm of the lung
  • biliary tract neoplasm
  • nasal polyposis
  • melanonychia
  • abnormal pigmentation of the oral mucosa
  • neoplasm of the rectum
  • esophageal neoplasm
  • neoplasm of the small intestine

HPO human phenotypes related to Peutz-Jeghers Syndrome:

(show all 44)
id Description Frequency HPO Source Accession
1 melanocytic nevus hallmark (90%) HP:0000995
2 hypermelanotic macule hallmark (90%) HP:0001034
3 abnormal pigmentation of the oral mucosa hallmark (90%) HP:0100669
4 lip hyperpigmentation hallmark (90%) HP:0100816
5 intestinal polyposis hallmark (90%) HP:0200008
6 gynecomastia occasional (7.5%) HP:0000771
7 nausea and vomiting occasional (7.5%) HP:0002017
8 abdominal pain occasional (7.5%) HP:0002027
9 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
10 neoplasm of the pancreas occasional (7.5%) HP:0002894
11 intestinal obstruction occasional (7.5%) HP:0005214
12 gastrointestinal infarctions occasional (7.5%) HP:0005244
13 neoplasm of the stomach occasional (7.5%) HP:0006753
14 renal neoplasm occasional (7.5%) HP:0009726
15 uterine neoplasm occasional (7.5%) HP:0010784
16 testicular neoplasm occasional (7.5%) HP:0010788
17 neoplasm of the breast occasional (7.5%) HP:0100013
18 neoplasm of the colon occasional (7.5%) HP:0100273
19 neoplasm of the lung occasional (7.5%) HP:0100526
20 biliary tract neoplasm occasional (7.5%) HP:0100574
21 nasal polyposis occasional (7.5%) HP:0100582
22 ovarian neoplasm occasional (7.5%) HP:0100615
23 abnormality of nail color occasional (7.5%) HP:0100643
24 neoplasm of the rectum occasional (7.5%) HP:0100743
25 esophageal neoplasm occasional (7.5%) HP:0100751
26 neoplasm of the small intestine occasional (7.5%) HP:0100833
27 abnormality of the ureter HP:0000069
28 ovarian cyst HP:0000138
29 abnormality of the mouth HP:0000153
30 gynecomastia HP:0000771
31 hypermelanotic macule HP:0001034
32 biliary tract abnormality HP:0001080
33 iron deficiency anemia HP:0001891
34 abdominal pain HP:0002027
35 rectal prolapse HP:0002035
36 intussusception HP:0002576
37 intestinal bleeding HP:0002584
38 gastrointestinal carcinoma HP:0002672
39 neoplasm of the pancreas HP:0002894
40 breast carcinoma HP:0003002
41 hamartomatous polyposis HP:0004390
42 precocious puberty with sertoli cell tumor HP:0008204
43 nasal polyposis HP:0100582
44 clubbing of fingers HP:0100759

UMLS symptoms related to Peutz-Jeghers Syndrome:


pigmentation lip

Drugs & Therapeutics for Peutz-Jeghers Syndrome

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SecretinPhase 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
PancrelipasePhase 1, Phase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3pancreatinPhase 1, Phase 2917
4
MiconazolePhase 2357322916-47-84189
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
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
5
sirolimusPhase 2186353123-88-95284616, 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
6
EverolimusPhase 21863159351-69-66442177
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
7
Epinephrine88651-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
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4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
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nchembio747-comp9

Interventional clinical trials:

(show all 15)
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
5Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study)CompletedNCT00714701
6Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)CompletedNCT00668291
7The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
8Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
9Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
10Pancreas Registry and High Risk RegistryRecruitingNCT02775461
11Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
12Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
13Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation StudyRecruitingNCT01838577
14Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
15International 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

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Genetic tests related to Peutz-Jeghers Syndrome:

id Genetic test Affiliating Genes
1 Peutz-Jeghers Syndrome25 23 STK11

Anatomical Context for Peutz-Jeghers Syndrome

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MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

34
Colon, Small intestine, Pancreas, Eye, Breast, Cervix, Ovary

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

39 (show all 30)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1APC, CTNNB1, CYP19A1, PRKAA2, TP53
2MP:00053759.0APC, CYP19A1, PRKAA2, PTEN, TP53
3MP:00053888.5CTNNB1, PTCH1, PTEN, STK11, TP53, TSC1
4MP:00011868.5APC, CTNNB1, CYP19A1, PTCH1, PTEN, TP53
5MP:00053828.4APC, CTNNB1, PTCH1, SMAD4, STK11, TP53
6MP:00053917.9APC, CTNNB1, CYP19A1, PTCH1, PTEN, STK11
7MP:00053707.8APC, CTNNB1, CYP19A1, PTEN, SMAD4, STK11
8MP:00053877.2APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
9MP:00053817.1APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
10MP:00053697.0APC, CTNNB1, CYP19A1, PRKAA2, PTCH1, PTEN
11MP:00053717.0APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
12MP:00053856.8APC, CTNNB1, CYP19A1, PTCH1, PTEN, SMAD4
13MP:00020066.8APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
14MP:00053806.8APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
15MP:00107686.7APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
16MP:00028736.6APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
17MP:00053906.6APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
18MP:00107716.6APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
19MP:00053896.5APC, BRCA2, CTNNB1, CYP19A1, PTCH1, PTEN
20MP:00053976.5APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
21MP:00053676.4APC, CTNNB1, CYP19A1, PRKAA2, PTCH1, PTEN
22MP:00053846.2APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
23MP:00036316.0APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
24MP:00053796.0APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
25MP:00053785.9APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
26MP:00053865.8APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1
27MP:00053765.7APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTCH1

Publications for Peutz-Jeghers Syndrome

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Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 575)
idTitleAuthorsYear
1
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
2
A Clinical and Molecular Genetic Study in 11 Chinese Children with Peutz-Jeghers syndrome. (27467201)
2016
3
Peutz-Jeghers syndrome: Four cases in one family. (26989648)
2016
4
Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathology Reports. (27241107)
2016
5
Advances and pitfalls in the management of small bowel polyps in Peutz-Jeghers syndrome. (26031873)
2015
6
Multifocal Jejuno-ileal carcinoma in a 7-year-old boy with Peutz-Jeghers syndrome: A rare occurence. (25006304)
2014
7
Successful pregnancy in a Peutz-Jeghers syndrome patient with lobular endocervical glandular hyperplasia. (25257303)
2014
8
Jejunal intussusception and polyps with different types of malignant transformation in Peutz-Jeghers syndrome: Report of a case. (23255928)
2013
9
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
10
Q-switched alexandrite laser treatment of facial and labial lentigines associated with Peutz-Jeghers syndrome. (23017172)
2012
11
Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. (21086168)
2011
12
Small bowel intussusception caused by a jejunal polyp in Peutz-Jeghers syndrome: a case treated with double balloon enteroscopy. (20658191)
2011
13
The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome. (21376213)
2011
14
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (20435009)
2010
15
Composite cervical adenocarcinoma composed of adenoma malignum and gastric type adenocarcinoma (dedifferentiated adenoma malignum) in a patient with Peutz Jeghers syndrome. (20876329)
2010
16
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. (19727776)
2010
17
A case of Peutz-Jeghers syndrome with breast cancer, bilateral sex cord tumor with annular tubules, and adenoma malignum caused by STK11 gene mutation. (19955943)
2009
18
Peutz-Jeghers syndrome with small intestinal malignancy and cervical carcinoma. (19109876)
2008
19
The utility of wireless capsule endoscopy, as compared with barium contrast study, in a case of Peutz-Jeghers syndrome. (17343087)
2006
20
Double-balloon endoscopy and Peutz-Jeghers syndrome: a new look at an old disease. (17106494)
2006
21
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991310)
2005
22
Sertoli cell tumor causing prepubertal gynecomastia in a boy with peutz-jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone. (15947469)
2005
23
Colonic adenocarcinoma and bilateral malignant ovarian sex cord tumor with annular tubules in Peutz-Jeghers syndrome. (15524052)
2004
24
A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. (14726968)
2003
25
Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor]. (10774296)
2000
26
Genetic heterogeneity in Peutz-Jeghers syndrome. (10874301)
2000
27
The molecular basis and clinical aspects of Peutz-Jeghers syndrome. (10379360)
1999
28
Peutz-Jeghers syndrome: case report. (10750512)
1999
29
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
30
A new simple technique for performing intraoperative endoscopic resection of small-bowel polyps in patients with Peutz-Jeghers syndrome. (10385381)
1999
31
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (10320891)
1998
32
Peutz-Jeghers syndrome--a case report. (10695118)
1998
33
The role of laparoscopy in the management of intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. (9488564)
1998
34
Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. (8188091)
1994
35
Q-switched ruby laser treatment of labial lentigines in Peutz-Jeghers syndrome. (7798417)
1994
36
Adenoma malignum of uterine cervix in Peutz-Jeghers syndrome: CT and US features. (8370843)
1993
37
The Peutz-Jeghers syndrome. Case reports. (1807398)
1991
38
Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. (2322793)
1990
39
Peutz-Jeghers syndrome in association with adenoma malignum (minimal deviation adenocarcinoma) of the cervix. Case report. (2804013)
1989
40
Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases. (3739431)
1986
41
Peutz-Jeghers syndrome with unusual features (a case report). (3585800)
1986
42
Peutz-Jeghers syndrome: clinical presentation and new therapeutic strategy. (4006869)
1985
43
Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with Peutz-Jeghers syndrome. (3972226)
1985
44
Ultrastructural studies on pigmented macules of Peutz-Jeghers syndrome. (7035511)
1981
45
Peutz-Jeghers syndrome. (7436458)
1980
46
Peutz-Jeghers syndrome with feminizing sertoli cell tumor. (6770991)
1980
47
Peutz-Jeghers syndrome with metastasizing carcinoma arising from a jejunal hamartoma. (499717)
1979
48
Peutz-Jeghers syndrome and its complications. First case report from Malaysia with review of literature. (495861)
1979
49
Extensive metastases in Peutz-Jeghers syndrome. (650807)
1978
50
Hamartomatous polyps in Peutz-Jeghers syndrome. (661859)
1978

Variations for Peutz-Jeghers Syndrome

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

68
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 30)
id Gene Variation Type Significance SNP ID Assembly Location
1STK11NM_000455.4(STK11): c.908T> G (p.Ile303Ser)single nucleotide variantLikely pathogenicrs727504171GRCh38Chr 19, 1221994: 1221994
2STK11NM_000455.4(STK11): c.921-2A> Tsingle nucleotide variantPathogenicrs727504172GRCh37Chr 19, 1222982: 1222982
3STK11NM_000455.4(STK11): c.988dupG (p.Asp330Glyfs)duplicationPathogenicrs786200991GRCh37Chr 19, 1223051: 1223051
4STK11NM_000455.4(STK11): c.580G> A (p.Asp194Asn)single nucleotide variantLikely pathogenicrs121913315GRCh37Chr 19, 1220487: 1220487
5STK11NM_000455.4(STK11): c.844dupC (p.Leu282Profs)duplicationPathogenicrs786205864GRCh37Chr 19, 1221321: 1221321
6STK11NM_000455.4(STK11): c.842delC (p.Pro281Argfs)deletionPathogenicrs121913321GRCh38Chr 19, 1221320: 1221320
7STK11NM_000455.4(STK11): c.863-1G> Asingle nucleotide variantLikely pathogenicrs863224448GRCh38Chr 19, 1221948: 1221948
8STK11NM_000455.4(STK11): c.719C> A (p.Ser240Ter)single nucleotide variantPathogenicrs730881976GRCh38Chr 19, 1220702: 1220702
9STK11NM_000455.4(STK11): c.923G> T (p.Trp308Leu)single nucleotide variantLikely pathogenicrs864622488GRCh38Chr 19, 1222987: 1222987
10STK11NM_000455.4(STK11): c.394delT (p.Cys132Alafs)deletionPathogenicrs864622707GRCh38Chr 19, 1219343: 1219343
11STK11NM_000455.4(STK11): c.709G> T (p.Asp237Tyr)single nucleotide variantLikely pathogenicrs878853247GRCh37Chr 19, 1220691: 1220691
12STK11NM_000455.4(STK11): c.-1115-?_*16+?deldeletionPathogenic
13STK11STK11, EX4-5DEL/EX6-7INVdeletionPathogenic
14STK11NM_000455.4(STK11): c.759C> A (p.Tyr253Ter)single nucleotide variantPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
15STK11NM_000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicrs587776656GRCh38Chr 19, 1221321: 1221321
16STK11NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs)deletionPathogenicrs587776657GRCh38Chr 19, 1220701: 1220704
17STK11NM_000455.4(STK11): c.465-1G> Asingle nucleotide variantPathogenicrs587776658GRCh38Chr 19, 1220372: 1220372
18STK11NM_000455.4(STK11): c.250A> T (p.Lys84Ter)single nucleotide variantPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
19STK11NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs)deletionPathogenicrs587776659GRCh38Chr 19, 1221312: 1221313
20STK11NM_000455.4(STK11): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
21STK11NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)deletionPathogenicrs587776660GRCh38Chr 19, 1221994: 1222002
22STK11NM_000455.4(STK11): c.169G> T (p.Glu57Ter)single nucleotide variantPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
23STK11NM_000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
24STK11NM_000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
25STK11NM_000455.4(STK11): c.717G> C (p.Trp239Cys)single nucleotide variantPathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
26STK11NM_000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicrs587776661GRCh37Chr 19, 1221976: 1221976
27STK11NM_000455.4(STK11): c.738C> G (p.Tyr246Ter)single nucleotide variantPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
28STK11NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs)duplicationPathogenicrs398123404GRCh37Chr 19, 1207081: 1207081
29STK11NM_000455.4(STK11): c.877G> T (p.Glu293Ter)single nucleotide variantPathogenicrs398123405GRCh37Chr 19, 1221962: 1221962
30STK11NM_000455.4(STK11): c.921-1G> Tsingle nucleotide variantPathogenicrs398123406GRCh37Chr 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 44)
idSuper pathwaysScoreTop Affiliating Genes
19.6PTEN, TSC1, TSC2
2
Show member pathways
9.5CTNNB1, PTEN, TSC2
3
Show member pathways
9.4PTEN, TP53, TSC2
49.4CTNNB1, PTEN, SMAD4
5
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
6
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
79.3CTNNB1, TP53, TSC2
89.3PRKAA2, PTEN, TSC1, TSC2
99.2APC, CTNNB1, SMAD4
109.2APC, CTNNB1, SMAD4
119.2PTEN, SMAD4, TP53
12
Show member pathways
9.2PRKAA2, PTEN, SMAD4, STK11
139.1APC, CTNNB1, PRKAA2, TSC2
149.0CYP19A1, PRKAA2, PTEN, STK11, TSC2
15
Show member pathways
9.0PTEN, TP53, TSC1, TSC2
16
Show member pathways
9.0PTEN, TP53, TSC1, TSC2
17
Show member pathways
9.0PTEN, TP53, TSC1, TSC2
18
Show member pathways
9.0PRKAA2, PTEN, STK11, TSC1, TSC2
199.0APC, PTEN, TP53, TSC2
20
Show member pathways
9.0BRCA2, SMAD4, TP53
218.9CTNNB1, SMAD4, STK11, TP53
22
Show member pathways
8.8PRKAA2, STK11, TP53, TSC1, TSC2
23
Show member pathways
8.8PRKAA2, STK11, TP53, TSC1, TSC2
248.8PRKAA2, PTEN, TP53, TSC1, TSC2
25
Show member pathways
8.7APC, CTNNB1, SMAD4, TP53
268.7APC, CTNNB1, SMAD4, TP53
278.7APC, CTNNB1, SMAD4, TP53
28
Show member pathways
8.7APC, CTNNB1, PTEN, SMAD4, TSC2
298.6APC, CTNNB1, PTCH1, SMAD4
308.6SMAD4, STK11, TP53, TSC1, TSC2
31
Show member pathways
8.5APC, CTNNB1, PTCH1, TP53
32
Show member pathways
8.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
338.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
34
Show member pathways
8.5PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
35
Show member pathways
8.4APC, CTNNB1, PTEN, SMAD4, TP53
368.3APC, CTNNB1, PTEN, TP53, TSC1, TSC2
37
Show member pathways
8.1APC, CTNNB1, PTEN, SMAD4, TP53, TSC2
38
Show member pathways
8.1BRCA2, CTNNB1, PTEN, TP53, TSC1, TSC2
39
Show member pathways
7.7APC, CTNNB1, PRKAA2, PTEN, STK11, TP53
407.4APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4
417.3APC, BRCA2, CTNNB1, PTCH1, PTEN, SMAD4
427.1BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4, STK11
43
Show member pathways
6.6APC, CTNNB1, PRKAA2, PTCH1, PTEN, SMAD4
44
Show member pathways
6.6APC, 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
1TSC1-TSC2 complexGO:003359610.6TSC1, TSC2
2Wnt signalosomeGO:199090910.4APC, CTNNB1
3catenin complexGO:001634210.4APC, CTNNB1
4beta-catenin destruction complexGO:003087710.4APC, CTNNB1
5axonal growth coneGO:004429510.1APC, PTCH1
6cell cortexGO:00059389.4APC, CTNNB1, TSC1
7cytosolGO:00058297.5APC, CTNNB1, PRKAA2, PTEN, SMAD4, STK11
8nucleoplasmGO:00056547.1APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4
9nucleusGO:00056346.7APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4
10cytoplasmGO:00057376.6APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1prostate gland growthGO:006073610.4CYP19A1, PTEN
2negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.4PTEN, TSC2
3vasculature developmentGO:000194410.4CTNNB1, STK11
4negative regulation of cell sizeGO:004579210.3PTEN, TSC1
5positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.3SMAD4, STK11
6beta-catenin destruction complex disassemblyGO:190488610.2APC, CTNNB1
7cell fate specificationGO:000170810.2APC, CTNNB1
8gastrulation with mouth forming secondGO:000170210.2CTNNB1, SMAD4
9female gonad developmentGO:000858510.1BRCA2, SMAD4
10DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.1BRCA2, TP53
11response to X-rayGO:001016510.0BRCA2, TP53
12renal system developmentGO:007200110.0CTNNB1, PTCH1
13negative regulation of TOR signalingGO:003200710.0PRKAA2, TSC1, TSC2
14positive regulation of histone H3-K4 methylationGO:00515719.9CTNNB1, SMAD4
15regulation of cell cycleGO:00517269.8PTEN, TSC1, TSC2
16regulation of signal transduction by p53 class mediatorGO:19017969.8PRKAA2, STK11, TP53
17glucose homeostasisGO:00425939.8PRKAA2, PTCH1, STK11
18kidney developmentGO:00018229.7CTNNB1, SMAD4, TSC1
19negative regulation of cell growthGO:00303089.7SMAD4, STK11, TP53
20neural tube closureGO:00018439.6PTCH1, TSC1, TSC2
21cell fate determinationGO:00017099.5CTNNB1, PTCH1
22canonical Wnt signaling pathwayGO:00600709.5APC, CTNNB1, PTEN, STK11
23branching involved in ureteric bud morphogenesisGO:00016589.4CTNNB1, PTCH1, SMAD4
24cellular response to DNA damage stimulusGO:00069749.2APC, BRCA2, STK11, TP53
25positive regulation of apoptotic processGO:00430659.2APC, CTNNB1, PTEN, TP53
26response to estradiolGO:00323558.9BRCA2, CTNNB1, PTCH1, PTEN
27cell cycle arrestGO:00070508.8APC, PRKAA2, STK11, TP53, TSC1, TSC2
28response to drugGO:00424938.8APC, CTNNB1, PTCH1, PTEN
29cell proliferationGO:00082838.4BRCA2, CTNNB1, PTEN, SMAD4, TP53
30positive regulation of transcription, DNA-templatedGO:00458938.3BRCA2, CTNNB1, PTCH1, SMAD4, TP53
31negative regulation of cell proliferationGO:00082856.8APC, 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:007041110.0CTNNB1, SMAD4
2RNA polymerase II transcription factor bindingGO:00010859.4CTNNB1, SMAD4, TP53
3chromatin bindingGO:00036828.8CTNNB1, PRKAA2, SMAD4, TP53
4protein kinase bindingGO:00199018.6APC, CTNNB1, PTEN, TP53

Sources for Peutz-Jeghers Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet