MCID: PTZ001
MIFTS: 67

Peutz-Jeghers Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Peutz-Jeghers Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Peutz-Jeghers Syndrome:

Name: Peutz-Jeghers Syndrome 49 10 11 68 21 45 22 23 47 12 51 24 65 36 67
Pjs 68 21 45 22 23 51 67
Polyposis, Hamartomatous Intestinal 68 45 22 23
Polyps-and-Spots Syndrome 68 45 23 67
Periorificial Lentiginosis Syndrome 68 45 23
Lentiginosis, Perioral 68 45 23
Intestinal Polyposis-Cutaneous Pigmentation Syndrome 68 23
Polyposis, Intestinal, Ii 68 23
Peutz-Jeghers Polyp of Small Intestine 10
Peutz-Jeghers Small Bowel Hamartoma 10
Peutz-Jeghers Polyps of Small Bowel 65
Intestinal Hamartomatous Polyposis 67
 
Peutz-Jeghers Polyp of the Stomach 65
Hamartomatous Intestinal Polyposis 51
Colonic Hamartomatous Polyp 10
Gastric Peutz-Jeghers Polyp 10
Polyps and Spots Syndrome 51
Peutz Jeghers Colon Polyp 10
Peutz Jeghers Polyposis 45
Peutz-Jeghers Polyposis 23
Peutz Jehgers Polyp 65
Hamartomatous Polyp 65
Peutz Jeghers Polyp 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
peutz-jeghers syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Uruguay); Age of onset: Adolescent,Adult,Childhood; Age of death: adult


External Ids:

OMIM49 175200
Disease Ontology10 DOID:3852
NCIt42 C3324
MeSH36 D010580
Orphanet51 2869
ICD10 via Orphanet28 Q85.8
MESH via Orphanet37 D010580
UMLS via Orphanet66 C0031269
MedGen34 C0031269

Summaries for Peutz-Jeghers Syndrome

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NIH Rare Diseases:45 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 pancreatitis and intestinal disease, 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 mTOR signalling. Affiliated tissues include colon, small intestine and breast, and related mouse phenotypes are pigmentation and adipose tissue.

Genetics Home Reference:23 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:49 Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by melanocytic macules of the lips, buccal... (175200) more...

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for pjs

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 191)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.0MUC6, SMAD4
2intestinal disease30.9APC, CTNNB1, TP53
3gastrointestinal system disease30.7APC, CTNNB1, PTEN, TP53
4bannayan-riley-ruvalcaba syndrome30.7PTEN, SMAD4
5kidney cancer30.4TSC1, TSC2
6breast cancer30.1APC, BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4
7hepatocellular carcinoma30.1APC, CTNNB1, PTEN, SMAD4, TP53
8colorectal cancer29.9APC, BRCA2, CTNNB1, PTEN, SMAD4, STK11
9intussusception11.1
10adenocarcinoma11.0
11adenoma10.9
12sertoli cell tumor10.9
13ovarian sex cord tumor with annular tubules10.8
14gynecomastia10.8
15cervicitis10.7
16pancreatic cancer10.7
17duodenitis10.6
18endocervicitis10.6
19thyroiditis10.6
20polyposis, juvenile intestinal10.5
21gastric cancer10.5
22gastroduodenitis10.5
23cervical adenoma malignum10.5
24bilateral breast cancer10.5
25gastric adenocarcinoma10.5
26adult syndrome10.4
27deficiency anemia10.4
28hepatitis10.4
29skin disease10.4
30ovarian gonadoblastoma10.4
31familial adenomatous polyposis10.4
32acute pancreatitis10.4
33iron deficiency anemia10.4
34gonadoblastoma10.4
35gastrointestinal carcinoma10.4
36cervical adenocarcinoma10.4
37colon adenocarcinoma10.4
38cystadenocarcinoma10.4
39intestinal benign neoplasm10.4
40intestinal obstruction10.4
41melanoma10.4
42pigmentation disease10.4
43skin pigmentation disorders10.4
44precocious puberty10.4
45colorectal adenoma10.4
46angiolipoma10.4
47hereditary mixed polyposis syndrome 110.4
48uterine benign neoplasm10.3CTNNB1, TP53
49gastric cancer, somatic10.3
50sickle cell anemia10.3

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



Diseases related to peutz-jeghers syndrome

Symptoms for Peutz-Jeghers Syndrome

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Symptoms by clinical synopsis from OMIM:

175200

Clinical features from OMIM:

175200

Symptoms:

 51 (show all 34)
  • lip hyperpigmentation
  • abnormal pigmentation of the oral mucosa/gingivae
  • macules
  • pigmented naevi/naevus pigmentosus/lentigo
  • polyposis of the bowel/colon/intestine
  • neoplasms/tumors
  • digestive neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • nasal polyposis
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • abnormal nails colour/leukonychia/melanonychia
  • anus/rectum anomalies
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • mesenteric/intestinal infarction
  • bladder and ureter anomalies
  • head and neck neoplasm/tumor/carcinoma/cancer
  • nose/nasal sinus neoplasm/tumor/carcinoma/cancer
  • esophageal neoplasm/tumor/carcinoma/cancer
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • small bowel neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • rectum/rectal neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • breast neoplasm/tumor/carcinoma/cancer
  • uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer

HPO human phenotypes related to Peutz-Jeghers Syndrome:

(show all 45)
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 autosomal dominant inheritance HP:0000006
28 abnormality of the ureter HP:0000069
29 ovarian cyst HP:0000138
30 abnormality of the mouth HP:0000153
31 gynecomastia HP:0000771
32 hypermelanotic macule HP:0001034
33 biliary tract abnormality HP:0001080
34 iron deficiency anemia HP:0001891
35 abdominal pain HP:0002027
36 rectal prolapse HP:0002035
37 intussusception HP:0002576
38 intestinal bleeding HP:0002584
39 gastrointestinal carcinoma HP:0002672
40 neoplasm of the pancreas HP:0002894
41 breast carcinoma HP:0003002
42 hamartomatous polyposis HP:0004390
43 precocious puberty with sertoli cell tumor HP:0008204
44 nasal polyposis HP:0100582
45 clubbing of fingers HP:0100759

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Secretinapproved, investigationalPhase 1, Phase 229108153-74-8
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 283953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3
Sirolimusapproved, investigationalPhase 2174253123-88-95284616, 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
4
EverolimusapprovedPhase 21742159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
5
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
6pancreatinPhase 1, Phase 2839
7
Epinephrineapproved76851-43-45816
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
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4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
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Interventional clinical trials:

(show all 14)
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
5The Cancer of the Pancreas Screening-5 CAPS5)StudyRecruitingNCT02000089
6Pancreatic Cancer Early Detection ProgramRecruitingNCT02206360
7Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
8Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
9Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney ComplexRecruitingNCT00001452
10Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerRecruitingNCT00040222
11Genetics of EGFR (Epidermal Growth Factor Receptor) Mutation StudyRecruitingNCT01838577
12Prevalence of Small Bowel Polyps in Patients With Sporadic Duodenal AdenomasRecruitingNCT02470416
13Screening for Early Pancreatic Neoplasia (Cancer of the Pancreas Screening or CAPS4 Study)Active, not recruitingNCT00714701
14Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC)Active, not recruitingNCT00668291

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 Syndrome22 24 STK11

Anatomical Context for Peutz-Jeghers Syndrome

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MalaCards organs/tissues related to Peutz-Jeghers Syndrome:

33
Colon, Small intestine, Breast, Eye, Cervix, Lung, Pancreas

Animal Models for Peutz-Jeghers Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Peutz-Jeghers Syndrome:

38 (show all 28)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0APC, CTNNB1, CYP19A1, PTEN, TP53
2MP:00053759.0APC, CYP19A1, PRKAA2, PTEN, TP53
3MP:00053718.7APC, BRCA2, CTNNB1, PTEN, TP53
4MP:00053907.6APC, BRCA2, CTNNB1, CYP19A1, INHA, PTEN
5MP:00053677.5APC, CTNNB1, PRKAA2, PTEN, SMAD4, STK11
6MP:00053697.5APC, CTNNB1, CYP19A1, PRKAA2, PTEN, SMAD4
7MP:00053817.5APC, BRCA2, CTNNB1, INHA, PTEN, SMAD4
8MP:00053807.2APC, BRCA2, CTNNB1, PTEN, SMAD4, STK11
9MP:00053707.0APC, CTNNB1, CYP19A1, INHA, PTEN, SMAD4
10MP:00053856.9APC, CTNNB1, CYP19A1, INHA, PTEN, SMAD4
11MP:00028736.8APC, BRCA2, CTNNB1, CYP19A1, INHA, PTEN
12MP:00053876.8APC, BRCA2, CTNNB1, CYP19A1, INHA, PTEN
13MP:00107716.8APC, BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4
14MP:00107686.7APC, BRCA2, CTNNB1, INHA, PTEN, SMAD4
15MP:00020066.6APC, BRCA2, CTNNB1, INHA, PTEN, SMAD4
16MP:00053846.6APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTEN
17MP:00053866.5APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTEN
18MP:00036316.4APC, BRCA2, CTNNB1, CYP19A1, PRKAA2, PTEN
19MP:00053976.2APC, BRCA2, CTNNB1, CYP19A1, INHA, PRKAA2
20MP:00053786.1APC, BRCA2, CTNNB1, CYP19A1, INHA, PRKAA2
21MP:00053765.9APC, BRCA2, CTNNB1, CYP19A1, INHA, PRKAA2
22MP:00053795.8APC, BRCA2, CTNNB1, CYP19A1, INHA, PRKAA2
23MP:00053895.8APC, BRCA2, CTNNB1, CYP19A1, INHA, PTEN

Publications for Peutz-Jeghers Syndrome

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Articles related to Peutz-Jeghers Syndrome:

(show top 50)    (show all 544)
idTitleAuthorsYear
1
Polycystic ovary syndrome (PCOS) with melanocytic mucosal macules: the role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome. (26147831)
2015
2
Metastatic ovarian sex-cord stromal tumor with annular tubules in a patient without Peutz-Jeghers syndrome. (24932834)
2014
3
Rectal carcinoma in a young female patient with peutz-jeghers syndrome: a case report. (24008657)
2014
4
Exome sequencing revealed novel germline mutations in chinese peutz-jeghers syndrome patients. (24154639)
2014
5
Multifocal Jejuno-ileal carcinoma in a 7-year-old boy with Peutz-Jeghers syndrome: A rare occurence. (25006304)
2014
6
Jejunal intussusception and polyps with different types of malignant transformation in Peutz-Jeghers syndrome: Report of a case. (23255928)
2013
7
Peutz-Jeghers syndrome and family survey: a case report. (23638235)
2013
8
Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: clinical and surgical management. (23968963)
2013
9
Surveillance of patients affected by Peutz-Jeghers syndrome: diagnostic value of MR enterography in prone and supine position. (21538021)
2012
10
Double-balloon endoscopy in patients with Peutz-Jeghers syndrome. (23161293)
2012
11
Synchronous presentation of acute pancreatitis and splenomegaly with intussusceptions in Peutz-Jeghers syndrome. (22925293)
2012
12
Balloon-assisted enteroscopy with prophylactic polypectomy for Peutz-Jeghers syndrome: experience in Taiwan. (21086168)
2011
13
Small bowel intussusception caused by a jejunal polyp in Peutz-Jeghers syndrome: a case treated with double balloon enteroscopy. (20658191)
2011
14
Elevation of WNT5A expression in polyp formation in Lkb1+/- mice and Peutz-Jeghers syndrome. (21341271)
2011
15
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. (20435009)
2010
16
Wnt signaling may be activated in a subset of Peutz-Jeghers syndrome polyps closely correlating to LKB1 expression. (20428811)
2010
17
Multiple intestinal intussusceptions in Peutz-Jeghers' syndrome: a case report. (20306920)
2010
18
Composite cervical adenocarcinoma composed of adenoma malignum and gastric type adenocarcinoma (dedifferentiated adenoma malignum) in a patient with Peutz Jeghers syndrome. (20876329)
2010
19
Two novel LKB1 mutations in Colombian Peutz-Jeghers syndrome patients. (19250387)
2009
20
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
21
Peutz-Jeghers syndrome: are "shaggy" villi part of the pathology? (18657807)
2008
22
A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. (17599048)
2007
23
Peutz-Jeghers syndrome. (17707154)
2007
24
The utility of wireless capsule endoscopy, as compared with barium contrast study, in a case of Peutz-Jeghers syndrome. (17343087)
2006
25
Double-balloon endoscopy and Peutz-Jeghers syndrome: a new look at an old disease. (17106494)
2006
26
Gene symbol: STK11. Disease: Peutz-Jeghers syndrome. (15991310)
2005
27
Minimally invasive diagnosis of Peutz-Jeghers syndrome. (15181624)
2004
28
Utility of capsule endoscopy in Peutz-Jeghers syndrome. (15062389)
2004
29
Peutz-Jeghers syndrome: report of 6 cases in a family and management of polyps with intraoperative endoscopy. (15492915)
2004
30
A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. (14726968)
2003
31
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. (12438709)
2002
32
Intestinal intussusception and occlusion caused by small bowel polyps in the Peutz-Jeghers syndrome. Management by combined intraoperative enteroscopy and resection through minimal enterostomy: case report. (11313662)
2000
33
Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor]. (10774296)
2000
34
Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome. (10644993)
2000
35
Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. (11103790)
2000
36
Genetic heterogeneity in Peutz-Jeghers syndrome. (10874301)
2000
37
Genetics of Peutz-Jeghers syndrome, Carney complex and other familial lentiginoses. (11595829)
2000
38
The molecular basis and clinical aspects of Peutz-Jeghers syndrome. (10379360)
1999
39
Peutz-Jeghers syndrome: case report. (10750512)
1999
40
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
41
Peutz-Jeghers syndrome: risks of a hereditary condition. (10499464)
1999
42
A new simple technique for performing intraoperative endoscopic resection of small-bowel polyps in patients with Peutz-Jeghers syndrome. (10385381)
1999
43
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (10320891)
1998
44
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. (8988175)
1997
45
Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. (8188091)
1994
46
Peutz-Jeghers syndrome in association with adenoma malignum (minimal deviation adenocarcinoma) of the cervix. Case report. (2804013)
1989
47
Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases. (3739431)
1986
48
Peutz-Jeghers syndrome. (7436458)
1980
49
Peutz-Jeghers syndrome with feminizing sertoli cell tumor. (6770991)
1980
50
Extensive metastases in Peutz-Jeghers syndrome. (650807)
1978

Variations for Peutz-Jeghers Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1STK11p.Leu67ProVAR_006202
2STK11p.Asp194AsnVAR_007921
3STK11p.Arg297LysVAR_007922
4STK11p.Trp239CysVAR_033142
5STK11p.Pro315SerVAR_033144
6STK11p.Glu16GlyVAR_065628
7STK11p.Asp176AsnVAR_071058
8STK11p.Trp308CysVAR_071059

Clinvar genetic disease variations for Peutz-Jeghers Syndrome:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1STK11NM_000455.4(STK11): c.908T> G (p.Ile303Ser)single nucleotide variantLikely pathogenicrs727504171GRCh37Chr 19, 1221993: 1221993
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)duplicationPathogenicrs786205864GRCh38Chr 19, 1221322: 1221322
6STK11NM_000455.4(STK11): c.842delC (p.Pro281Argfs)deletionPathogenicrs121913321GRCh38Chr 19, 1221320: 1221320
7STK11NM_000455.4(STK11): c.863-1G> Asingle nucleotide variantLikely pathogenicGRCh38Chr 19, 1221948: 1221948
8STK11NM_000455.4(STK11): c.719C> A (p.Ser240Ter)single nucleotide variantPathogenicrs730881976GRCh37Chr 19, 1220701: 1220701
9STK11STK11, EX4-5DEL/EX6-7INVdeletionPathogenic
10STK11NM_000455.4(STK11): c.759C> A (p.Tyr253Ter)single nucleotide variantPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
11STK11NM_000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicrs587776656GRCh38Chr 19, 1221321: 1221321
12STK11NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs)deletionPathogenicrs587776657GRCh38Chr 19, 1220701: 1220704
13STK11NM_000455.4(STK11): c.465-1G> Asingle nucleotide variantPathogenicrs587776658GRCh38Chr 19, 1220372: 1220372
14STK11NM_000455.4(STK11): c.250A> T (p.Lys84Ter)single nucleotide variantPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
15STK11NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs)deletionPathogenicrs587776659GRCh38Chr 19, 1221312: 1221313
16STK11NM_000455.4(STK11): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
17STK11NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)deletionPathogenicrs587776660GRCh38Chr 19, 1221994: 1222002
18STK11NM_000455.4(STK11): c.169G> T (p.Glu57Ter)single nucleotide variantPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
19STK11NM_000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
20STK11NM_000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
21STK11NM_000455.4(STK11): c.717G> C (p.Trp239Cys)single nucleotide variantPathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
22STK11NM_000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicrs587776661GRCh37Chr 19, 1221976: 1221976
23STK11NM_000455.4(STK11): c.738C> G (p.Tyr246Ter)single nucleotide variantPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
24STK11NM_000455.4(STK11): c.169dupG (p.Glu57Glyfs)duplicationPathogenicrs398123404GRCh37Chr 19, 1207081: 1207081
25STK11NM_000455.4(STK11): c.877G> T (p.Glu293Ter)single nucleotide variantPathogenicrs398123405GRCh37Chr 19, 1221962: 1221962
26STK11NM_000455.4(STK11): c.921-1G> Tsingle nucleotide variantPathogenicrs398123406GRCh37Chr 19, 1222983: 1222983

Cosmic variations for Peutz-Jeghers Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1520KRASlarge intestine,colon,other,Peutz-Jeghers polyp1

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 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTEN, TSC1, TSC2
2
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
3
Show member pathways
9.3PRKAA2, STK11, TSC1, TSC2
49.3CTNNB1, PTEN, SMAD4
59.3PRKAA2, PTEN, TSC1, TSC2
6
Show member pathways
9.3PTEN, TP53, TSC2
79.2APC, CTNNB1, SMAD4
89.2CTNNB1, TP53, TSC2
9
Show member pathways
9.2PRKAA2, PTEN, SMAD4, STK11
109.1APC, CTNNB1, PRKAA2, TSC2
119.1PTEN, SMAD4, TP53
12
Show member pathways
9.0PRKAA2, PTEN, STK11, TSC1, TSC2
139.0CYP19A1, PRKAA2, PTEN, STK11, TSC2
149.0PTEN, TP53, TSC1, TSC2
15
Show member pathways
9.0PTEN, TP53, TSC1, TSC2
16
Show member pathways
9.0PTEN, TP53, TSC1, TSC2
178.9APC, PTEN, TP53, TSC2
18
Show member pathways
8.8BRCA2, SMAD4, TP53
198.7CTNNB1, SMAD4, STK11, TP53
20
Show member pathways
8.7PRKAA2, STK11, TP53, TSC1, TSC2
21
Show member pathways
8.7PRKAA2, PTEN, TP53, TSC1, TSC2
22
Show member pathways
8.6APC, CTNNB1, PTEN, SMAD4, TSC2
23
Wnt signaling pathway (KEGG)
Show member pathways
8.5APC, CTNNB1, PTEN, SMAD4, TSC2
248.5APC, CTNNB1, SMAD4, TP53
258.5APC, CTNNB1, SMAD4, TP53
268.5SMAD4, STK11, TP53, TSC1, TSC2
278.4PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
28
Wnt Signaling Pathway (WikiPathways)
Show member pathways
8.3PRKAA2, PTEN, STK11, TP53, TSC1, TSC2
298.2APC, CTNNB1, PTEN, TP53, TSC1, TSC2
30
Show member pathways
8.1BRCA2, CTNNB1, PTEN, TP53, TSC1, TSC2
31
Show member pathways
8.0APC, CTNNB1, PTEN, SMAD4, TP53, TSC2
327.8APC, BRCA2, CTNNB1, PTEN, SMAD4, TP53
337.2APC, BRCA2, CTNNB1, PRKAA2, PTEN, SMAD4
34
Show member pathways
7.1APC, CTNNB1, PRKAA2, PTEN, SMAD4, STK11
356.9BRCA2, CTNNB1, CYP19A1, PTEN, SMAD4, STK11

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
2cell projection membraneGO:003125310.4APC, CTNNB1
3catenin complexGO:001634210.3APC, CTNNB1
4beta-catenin destruction complexGO:003087710.3APC, CTNNB1
5lamellipodiumGO:00300279.4APC, CTNNB1, TSC1
6centrosomeGO:00058139.0APC, BRCA2, CTNNB1, SMAD4
7protein complexGO:00432348.1BRCA2, CTNNB1, STK11, TP53, TSC1
8cytosolGO:00058297.0APC, CTNNB1, PRKAA2, PTEN, SMAD4, STK11
9cytoplasmGO:00057376.1APC, BRCA2, CTNNB1, INHA, PRKAA2, PTEN

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1regulation of fatty acid biosynthetic processGO:004230410.6PRKAA2, STK11
2negative regulation of phosphatidylinositol 3-kinase signalingGO:001406710.6PTEN, TSC2
3prostate gland growthGO:006073610.5CYP19A1, PTEN
4negative regulation of cell sizeGO:004579210.5PTEN, TSC1
5glucose importGO:004632310.5TSC1, TSC2
6negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:006077010.4APC, STK11
7cell fate specificationGO:000170810.3APC, CTNNB1
8positive regulation of epithelial cell differentiationGO:003085810.3APC, CTNNB1
9canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:004433610.3APC, CTNNB1
10regulation of osteoblast differentiationGO:004566710.3APC, CTNNB1
11regulation of osteoclast differentiationGO:004567010.3APC, CTNNB1
12regulation of epithelial cell differentiationGO:003085610.3APC, CTNNB1
13positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.2SMAD4, STK11
14gastrulation with mouth forming secondGO:000170210.2CTNNB1, SMAD4
15negative regulation of TOR signalingGO:003200710.2PRKAA2, TSC1, TSC2
16DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.9BRCA2, TP53
17chromosome breakageGO:00310529.9BRCA2, TP53
18response to X-rayGO:00101659.9BRCA2, TP53
19canonical Wnt signaling pathwayGO:00600709.7APC, CTNNB1, PTEN, STK11
20T cell differentiation in thymusGO:00330779.6APC, CTNNB1, TP53
21chromosome organizationGO:00512769.5APC, BRCA2, TP53
22negative regulation of cell growthGO:00303089.4SMAD4, STK11, TP53
23insulin receptor signaling pathwayGO:00082869.4PRKAA2, STK11, TSC1, TSC2
24positive regulation of histone H3-K4 methylationGO:00515719.3CTNNB1, SMAD4
25response to estradiolGO:00323559.2BRCA2, CTNNB1, PTEN
26kidney developmentGO:00018229.2APC, CTNNB1, SMAD4, TSC1
27positive regulation of apoptotic processGO:00430659.2APC, CTNNB1, PTEN, TP53
28cellular response to DNA damage stimulusGO:00069748.8APC, BRCA2, STK11, TP53
29regulation of cell proliferationGO:00421278.7CTNNB1, INHA, SMAD4, TP53
30transcription initiation from RNA polymerase II promoterGO:00063678.7PRKAA2, PTEN, SMAD4, TP53, TSC1, TSC2
31cell proliferationGO:00082838.4BRCA2, CTNNB1, PTEN, SMAD4, TP53
32regulation of cell cycleGO:00517268.2APC, INHA, PTEN, TP53, TSC1, TSC2
33cell cycle arrestGO:00070508.2APC, INHA, PRKAA2, STK11, TP53, TSC1
34gene expressionGO:00104678.2PRKAA2, PTEN, SMAD4, TP53, TSC1, TSC2
35negative regulation of cell proliferationGO:00082857.8APC, CTNNB1, PTEN, SMAD4, STK11, TP53

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

idNameGO IDScoreTop Affiliating Genes
1I-SMAD bindingGO:007041110.1CTNNB1, SMAD4
2R-SMAD bindingGO:007041210.1CTNNB1, SMAD4
3bindingGO:00054888.8APC, CTNNB1, TSC1, TSC2
4chromatin bindingGO:00036828.7CTNNB1, PRKAA2, SMAD4, TP53

Sources for Peutz-Jeghers Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet