JIP
MCID: JVN014
MIFTS: 60

Juvenile Polyposis Syndrome (JIP) malady

Gastrointestinal, Cancer, Genetic categories

Summaries for Juvenile Polyposis Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.

MalaCards: Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to hereditary hemorrhagic telangiectasia and bannayan-riley-ruvalcaba syndrome. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD family member 4), and among its related pathways are p70S6K Signaling and Colorectal Cancer Metastasis. The compounds pge2 and dihydrotestosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and small intestine, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Disease Ontology:8 An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.

Wikipedia:64 Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in... more...

Description from OMIM:47 174900,175050,612242

GeneReviews summary for jps

Aliases & Classifications for Juvenile Polyposis Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Gastrointestinal


Characteristics (Orphanet epidemiological data):

49
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood
generalized juvenile polyposis/juvenile polyposis coli:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

juvenile polyposis syndrome 8 19 43 20 22 21 45 49 61
juvenile intestinal polyposis 43 21 49
juvenile polyposis coli 19 22 61
jps 43 21 49
jip 43 21 49
generalized juvenile polyposis/juvenile polyposis coli 49
polyposis familial of entire gastrointestinal tract 43
juvenile gastrointestinal polyposis 49
polyposis, juvenile intestinal 47
pji 43


External Ids:

Disease Ontology8 DOID:0050787
ICD10 via Orphanet26 D12.6

Related Diseases for Juvenile Polyposis Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Juvenile Polyposis Syndrome family:

juvenile polyposis of infancy

Diseases related to Juvenile Polyposis Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary hemorrhagic telangiectasia30.3BMPR1A, ENG, SMAD4
2bannayan-riley-ruvalcaba syndrome30.1BMPR1A, PTEN
3peutz-jeghers syndrome30.1APC, PTEN, BMPR1A, STK11, CTNNB1
4colorectal cancer30.1SMAD4, PTEN, STK11, CTNNB1, ENG, PTGS2
5adenocarcinoma30.1BMP2, STK11, PTGS2, ENG, TGFA, CTNNB1
6juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.3
7juvenile polyposis syndrome, infantile form10.3
8hereditary spherocytosis10.2
9cronkhite-canada syndrome10.2
10autosomal recessive juvenile parkinson disease10.1
11achalasia10.1
12eosinophilic esophagitis10.1
13n syndrome10.1
14aortic disease10.1
15peutz–jeghers syndrome10.1
16prosthetic joint infection10.1
17mass syndrome10.1
18ruvalcaba syndrome10.1
19image syndrome10.1
20pancreatic carcinoma, somatic10.1
21cap polyposis10.1
22juvenile polyposis of infancy10.1
23pancreatitis10.0SMAD4
24leiomyoma10.0SMAD4
25biliary tract cancer10.0SMAD4
26pituitary adenoma10.0APC
27gallbladder cancer10.0APC
28laryngeal squamous cell carcinoma10.0PTEN
29sleep disorder10.0
30williams syndrome10.0
31young syndrome10.0
32tucker syndrome10.0
33colorectal cancer 210.0
34colorectal cancer 110.0
35diabetes mellitus10.0BMP2
36bladder carcinoma10.0TGFA
37uterine carcinosarcoma10.0PTGS2
38intestinal neoplasm10.0APC
39nephroblastoma10.0CTNNB1
40alzheimer's disease10.0PTGS2
41intussusception10.0STK11
42pulmonary fibrosis10.0TGFA
43cholesteatoma10.0TGFA
44oligodendroglioma10.0PTEN
45spondylolisthesis10.0BMP2
46seminoma10.0SMAD4
47osteosarcoma10.0BMP2, SMAD4
48thyroid cancer10.0PTEN, APC
49laryngeal carcinoma10.0ENG
50meningioma10.0PTEN, TGFA

Graphical network of the top 20 diseases related to Juvenile Polyposis Syndrome:



Diseases related to juvenile polyposis syndrome

Clinical Features for Juvenile Polyposis Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

174900,175050,612242

Clinical synopsis from OMIM:

174900

Drugs & Therapeutics for Juvenile Polyposis Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Juvenile Polyposis Syndrome

Drug clinical trials:

Search ClinicalTrials for Juvenile Polyposis Syndrome

Search NIH Clinical Center for Juvenile Polyposis Syndrome

Search CenterWatch for Juvenile Polyposis Syndrome

Genetic Tests for Juvenile Polyposis Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Juvenile Polyposis Syndrome:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome20 22 SMAD4
2 Juvenile Polyposis Coli22

Anatomical Context for Juvenile Polyposis Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

33
Brain, Heart, Small intestine, Colon

Animal Models for Juvenile Polyposis Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

37 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.5BMPR1A
2MP:000537610.4BMPR1A
3MP:00036319.6BMP2, APC, BMPR1A
4MP:00053809.1SMAD4, ENG, BMPR1A, BMP2, APC
5MP:00053699.0SMAD4, TGFA, APC, BMPR1A, ENG
6MP:00053779.0APC, BMP2, BMPR1A
7MP:00053758.6TGFA, PTGS2, PTEN, APC
8MP:00053888.4PTEN, PTGS2, ENG, CTNNB1, BMPR1A
9MP:00030128.2PTGS2, APC, CTNNB1, BMPR1A, STK11
10MP:00053708.1APC, SMAD4, PTGS2, PTEN, STK11, CTNNB1
11MP:00053678.0APC, CTNNB1, STK11, PTEN, PTGS2, SMAD4
12MP:00020067.9APC, CTNNB1, SMAD4, PTEN, PTGS2, STK11
13MP:00053917.6PTGS2, PTEN, STK11, BMPR1A, CTNNB1, APC
14MP:00053867.6STK11, SMAD4, CTNNB1, BMPR1A, APC, PTEN
15MP:00053977.6SMAD4, APC, BMPR1A, STK11, PTEN, PTGS2
16MP:00053907.5TGFA, APC, PTGS2, CTNNB1, BMP2, PTEN
17MP:00053827.5APC, TGFA, ENG, PTEN, STK11, CTNNB1
18MP:00053877.3CTNNB1, BMPR1A, APC, PTEN, PTGS2, TGFA
19MP:00053897.3STK11, PTEN, PTGS2, SMAD4, TGFA, BMP2
20MP:00053817.3TGFA, SMAD4, PTEN, STK11, CTNNB1, BMP2
21MP:00028737.2SMAD4, STK11, BMPR1A, BMP2, CTNNB1, APC
22MP:00107717.1PTEN, BMPR1A, CTNNB1, APC, STK11, PTGS2
23MP:00053847.1CTNNB1, BMP2, APC, STK11, BMPR1A, PTEN
24MP:00107687.0SMAD4, ENG, PTGS2, PTEN, STK11, BMPR1A
25MP:00053856.7TGFA, APC, CTNNB1, BMP2, BMPR1A, STK11
26MP:00053786.6CTNNB1, APC, BMPR1A, TGFA, BMP2, STK11

Publications for Juvenile Polyposis Syndrome

Sources:
51PubMed
See all sources

Articles related to Juvenile Polyposis Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome. (23888243)
2013
2
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. (22993021)
2013
3
Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? (23969542)
2013
4
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. (23239472)
2013
5
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
6
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. (22826269)
2012
7
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. (22965402)
2012
8
The real face of juvenile polyposis syndrome. (23205314)
2012
9
A unifying working hypothesis for juvenile polyposis syndrome and MAcnActrier's disease: specific localization or concomitant occurrence of a separate entity? (22748914)
2012
10
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. (22617360)
2012
11
Giant stomach secondary to juvenile polyposis syndrome. (22005895)
2012
12
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. (21572342)
2012
13
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. (22273206)
2011
14
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. (21111415)
2011
15
Video imaging of the gastrointestinal tract in a patient with juvenile polyposis syndrome. (21723226)
2011
16
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. (21444082)
2011
17
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. (21267778)
2011
18
Juvenile polyposis syndrome. (22171123)
2011
19
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. (20682711)
2010
20
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. (20685751)
2010
21
Juvenile polyposis syndrome. (21291112)
2010
22
Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes. (20012952)
2010
23
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. (19124115)
2009
24
Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States. (19407664)
2009
25
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. (19816839)
2009
26
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. (19412013)
2009
27
Pediatric juvenile polyposis syndromes: an update. (19463221)
2009
28
Juvenile polyposis syndrome. (20011494)
2008
29
Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. (18160401)
2008
30
Juvenile polyposis syndrome affecting the stomach: a case report. (18826596)
2008
31
Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. (17325551)
2007
32
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome. (17362581)
2007
33
Mutation screening in juvenile polyposis syndrome. (16436638)
2006
34
Colonic surgery in patients with juvenile polyposis syndrome: a case series. (15690657)
2005
35
Images of interest. Gastrointestinal: juvenile polyposis syndrome. (15610462)
2005
36
A review of juvenile polyposis syndrome. (16246179)
2005
37
Low prevalence of loss of heterozygosity and SMAD4 mutations in sporadic and familial juvenile polyposis syndrome-associated juvenile polyps. (15447767)
2004
38
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). (15031030)
2004
39
Fatal colorectal cancer in juvenile polyposis syndrome. (11993518)
2002
40
Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. (12221036)
2002
41
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
42
CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. (11355940)
2001
43
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. (10446110)
1999
44
Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome. (9491322)
1998
45
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. (9811934)
1998
46
Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps. (9060832)
1997
47
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. (9371495)
1997
48
Juvenile Polyposis Syndrome (20301642)
1993
49
Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases. (3739431)
1986
50
Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. (3794950)
1986

Genetic Variations for Juvenile Polyposis Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Juvenile Polyposis Syndrome:

63 (show all 11)
id Symbol AA change Variation SNP ID
1BMPR1Ap.Cys124ArgVAR_015533
2BMPR1Ap.Ala338AspVAR_015534
3BMPR1Ap.Cys376TyrVAR_015535
4BMPR1Ap.Tyr62AspVAR_022828
5BMPR1Ap.Cys82TyrVAR_022829
6BMPR1Ap.Cys130ArgVAR_022830
7BMPR1Ap.Arg443CysVAR_022831rs35619497
8BMPR1Ap.Met470ThrVAR_022832
9SMAD4p.Gly352ArgVAR_019571rs121912581
10SMAD4p.Arg361CysVAR_019572rs80338963
11SMAD4p.Glu330GlyVAR_022833rs281875324

Expression for genes affiliated with Juvenile Polyposis Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Juvenile Polyposis Syndrome

Search GEO for disease gene expression data for Juvenile Polyposis Syndrome.

Pathways for genes affiliated with Juvenile Polyposis Syndrome

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54Reactome, 56SinoBiological, 53R&D Systems, 4Cell Signaling Technology, 60Tocris Bioscience, 12EMD Millipore
See all sources

Pathways related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1STK11
210.1APC
310.0TGFA
49.9ENG, SMAD4
59.7BMP2, BMPR1A
69.7BMPR1A, BMP2
79.5ENG, SMAD4, STK11
89.4APC, CTNNB1
99.4BMP2, SMAD4, BMPR1A
10
Hide members
9.4SMAD4, BMPR1A, BMP2
119.4BMPR1A, ENG, BMP2
129.4BMP2, SMAD4, PTEN
139.2PTEN, SMAD4, CTNNB1
149.2TGFA, PTEN, APC
15
Hide members
9.2SMAD4, CTNNB1, APC
169.1CTNNB1, SMAD4, BMP2
179.1ENG, TGFA, PTGS2
189.1CTNNB1, PTEN, APC
199.0BMP2, CTNNB1, APC
20
Hide members
9.0BMP2, CTNNB1, APC
21
Hide members
8.8TGFA, PTEN, BMPR1A, BMP2
228.8CTNNB1, BMP2, BMPR1A, SMAD4
23
Hide members
8.8SMAD4, PTEN, CTNNB1, APC
24
Hide members
8.8APC, PTEN, SMAD4, CTNNB1
25
Hide members
8.7APC, BMPR1A, BMP2, CTNNB1
268.6PTEN, STK11, SMAD4, BMPR1A, CTNNB1
27
Hide members
8.5PTEN, PTGS2, APC, CTNNB1
28
Hide members
8.5TGFA, BMP2, CTNNB1, APC
298.4BMPR1A, APC, CTNNB1, BMP2, SMAD4
30
Hide members
8.2TGFA, PTEN, BMPR1A, CTNNB1, BMP2
317.9PTEN, SMAD4, CTNNB1, PTGS2, STK11, APC
32
Hide members
7.7PTEN, SMAD4, BMPR1A, STK11, BMP2, APC
337.3BMP2, APC, PTEN, PTGS2, SMAD4, TGFA
34
Hide members
6.9TGFA, PTGS2, STK11, PTEN, APC, CTNNB1

Compounds for genes affiliated with Juvenile Polyposis Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1pge24510.0PTGS2, PTEN
2dihydrotestosterone45 29 11 2412.8BMP2, ENG, SMAD4
3methylazoxymethanol acetate459.8APC, CTNNB1
41-hydroxyanthraquinone459.8CTNNB1, APC
5ketorolac45 1110.8BMP2, PTGS2
6samp459.8APC, CTNNB1
71,2-dimethylhydrazine459.7CTNNB1, APC
8azoxymethane459.6CTNNB1, APC
9steroid459.5TGFA, SMAD4, BMP2
10erlotinib45 50 1111.4TGFA, PTEN, PTGS2
112-amino-3-methylimidazo(4,5-f)quinoline459.3CTNNB1, APC
12exisulind459.3PTGS2, CTNNB1, APC
13cetuximab45 50 1111.3CTNNB1, TGFA, PTEN
14sulindac45 1110.3PTGS2, CTNNB1, APC
15trastuzumab45 50 1111.3CTNNB1, PTEN, TGFA
16crcs459.2APC, CTNNB1, PTEN, SMAD4
17matrigel459.2CTNNB1, TGFA, BMP2
18celecoxib45 60 29 50 11 2414.2APC, PTGS2, CTNNB1
195-aza-2deoxycytidine459.1PTEN, STK11, CTNNB1, APC
20ag 1478459.0CTNNB1, PTGS2, TGFA
21lovastatin45 50 60 29 1113.0CTNNB1, BMP2, PTEN
22indomethacin45 60 29 1111.9TGFA, PTGS2, APC, BMP2
23gefitinib45 50 1110.9CTNNB1, PTEN, PTGS2, TGFA
24wortmannin458.8CTNNB1, PTEN, BMP2, APC
25glycogen45 249.8PTEN, STK11, CTNNB1, APC
26doxorubicin45 50 1110.8TGFA, ENG, PTEN, CTNNB1
27agar458.8ENG, TGFA, PTEN, SMAD4, CTNNB1
28resveratrol45 60 11 2411.8TGFA, PTGS2, BMP2, CTNNB1
29ly294002458.6PTEN, CTNNB1, PTGS2, TGFA
30gf 109203x45 609.5CTNNB1, PTGS2, TGFA
31vitamin d458.5BMP2, CTNNB1, APC, PTEN, TGFA
32phosphotyrosine458.5PTEN, TGFA, CTNNB1, DUSP13
33oxygen45 249.5BMP2, PTGS2, PTEN, STK11, ENG
34genistein45 29 60 2 11 2413.4PTGS2, TGFA, CTNNB1, BMP2, PTEN
35tgf beta1458.3PTEN, ENG, TGFA, SMAD4, CTNNB1, BMP2
36serine458.3SMAD4, DUSP13, STK11, BMPR1A, APC, BMP2
37alanine458.3PTEN, SMAD4, STK11, CTNNB1, BMP2, TGFA
38testosterone45 60 11 2411.2TGFA, APC, CTNNB1, SMAD4, PTEN, BMP2
39rapamycin458.2TGFA, PTEN, STK11, BMP2, APC, CTNNB1
40pd 98,059458.1SMAD4, PTEN, BMP2, CTNNB1, PTGS2, TGFA
41paraffin458.0STK11, CTNNB1, TGFA, SMAD4, ENG, PTEN
42lipid458.0ENG, STK11, DUSP13, BMP2, APC, PTEN
43phosphatidylinositol457.9PTEN, APC, CTNNB1, TGFA, DUSP13
44oligonucleotide457.9CTNNB1, BMP2, APC, PTEN, ENG, TGFA
45arginine457.8DUSP13, TGFA, SMAD4, PTEN, BMP2, CTNNB1
46cysteine457.7DUSP13, TGFA, CTNNB1, BMP2, PTEN, ENG
47vegf457.5CTNNB1, PTEN, TGFA, SMAD4, ENG, PTGS2
48progesterone45 60 29 11 2411.4TGFA, APC, CTNNB1, BMP2, DUSP13, PTEN
49tyrosine457.1ENG, SMAD4, PTEN, DUSP13, BMP2, APC
50threonine457.0BMPR1A, CTNNB1, DUSP13, PTEN, ENG, SMAD4

GO Terms for genes affiliated with Juvenile Polyposis Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:0308779.4APC, CTNNB1
2cell-cell adherens junctionGO:0059139.4CTNNB1, APC
3nucleusGO:0056346.8SMAD4, ENG, PTGS2, PTEN, STK11, CTNNB1
4cytoplasmGO:0057376.7APC, CTNNB1, STK11, DUSP13, PTEN, PTGS2

Biological processes related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of SMAD protein import into nucleusGO:06039110.2SMAD4, BMPR1A
2regulation of transforming growth factor beta receptor signaling pathwayGO:01701510.2ENG, SMAD4
3positive regulation of transforming growth factor beta receptor signaling pathwayGO:03051110.1STK11, SMAD4
4negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:06077010.1STK11, APC
5SMAD protein signal transductionGO:06039510.0BMP2, SMAD4
6positive regulation of BMP signaling pathwayGO:03051310.0SMAD4, ENG
7positive regulation of epithelial to mesenchymal transitionGO:01071810.0BMP2, SMAD4
8developmental growthGO:04858910.0BMPR1A, SMAD4
9central nervous system vasculogenesisGO:0220099.9ENG, CTNNB1
10dorsal/ventral axis specificationGO:0099509.9BMPR1A, CTNNB1
11transforming growth factor beta receptor signaling pathwayGO:0071799.9SMAD4, ENG, BMPR1A
12ectoderm developmentGO:0073989.8CTNNB1, BMPR1A
13gastrulation with mouth forming secondGO:0017029.8CTNNB1, SMAD4
14cell migrationGO:0164779.7APC, PTEN, ENG
15response to hypoxiaGO:0016669.7BMP2, ENG, SMAD4
16proximal/distal pattern formationGO:0099549.6CTNNB1, APC
17positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.5SMAD4, ENG, BMPR1A, BMP2
18BMP signaling pathwayGO:0305099.5BMP2, BMPR1A, ENG, SMAD4
19branching involved in ureteric bud morphogenesisGO:0016589.5SMAD4, BMP2, CTNNB1
20positive regulation of osteoblast differentiationGO:0456699.5CTNNB1, BMP2, BMPR1A
21odontogenesis of dentin-containing toothGO:0424759.5BMPR1A, BMP2, CTNNB1
22positive regulation of bone mineralizationGO:0305019.4BMPR1A, BMP2
23epithelial to mesenchymal transitionGO:0018379.4BMP2, CTNNB1
24T cell differentiation in thymusGO:0330779.3APC, CTNNB1
25in utero embryonic developmentGO:0017019.2CTNNB1, BMP2, BMPR1A, SMAD4
26canonical Wnt receptor signaling pathwayGO:0600709.1APC, CTNNB1, STK11, PTEN
27positive regulation of transcription, DNA-dependentGO:0458939.1SMAD4, BMPR1A, BMP2, CTNNB1
28angiogenesisGO:0015259.1TGFA, PTGS2, PTEN
29negative regulation of transcription from RNA polymerase II promoterGO:0001229.0CTNNB1, BMP2, ENG, SMAD4
30positive regulation of apoptotic processGO:0430658.8APC, CTNNB1, BMP2, PTGS2
31negative regulation of cell proliferationGO:0082857.9SMAD4, APC, CTNNB1, BMP2, STK11, PTEN

Molecular functions related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:0050249.9BMPR1A, ENG
2I-SMAD bindingGO:0704119.7SMAD4, CTNNB1
3R-SMAD bindingGO:0704129.6SMAD4, CTNNB1
4cadherin bindingGO:0452969.3CTNNB1, APC
5protein tyrosine/serine/threonine phosphatase activityGO:0081389.3DUSP13, PTEN
6SMAD bindingGO:0463329.3BMPR1A, BMP2, CTNNB1
7protein homodimerization activityGO:0428038.8BMPR1A, PTGS2, ENG, SMAD4
8protein bindingGO:0055157.0APC, CTNNB1, BMP2, BMPR1A, STK11, PTEN

Products for genes affiliated with Juvenile Polyposis Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Juvenile Polyposis Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet