JIP
MCID: JVN014
MIFTS: 73

Juvenile Polyposis Syndrome (JIP) malady

Gastrointestinal diseases, Cancer diseases, Genetic diseases categories

Summaries for Juvenile Polyposis Syndrome

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 colon, brain and heart, 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:63 Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in... more...

Description from OMIM:46 174900,175050,612242

GeneReviews summary for jps

Aliases & Classifications for Juvenile Polyposis Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 44 48 60
juvenile intestinal polyposis 42 21 48
juvenile polyposis coli 19 22 60
jps 42 21 48
jip 42 21 48
generalized juvenile polyposis/juvenile polyposis coli 48
polyposis familial of entire gastrointestinal tract 42
juvenile gastrointestinal polyposis 48
polyposis, juvenile intestinal 46
pji 42


External Ids:

Disease Ontology8 DOID:0050787
SNOMED-CT via Orphanet57 9273005
ICD10 via Orphanet26 D12.6

Related Diseases for Juvenile Polyposis Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Juvenile Polyposis Syndrome family:

Smad4-Related Juvenile Polyposis Bmpr1a-Related Juvenile Polyposis
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 97)
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
5adenocarcinoma30.0BMP2, STK11, PTGS2, ENG, TGFA, CTNNB1
6esophagitis10.2
7image syndrome10.2
8juvenile polyposis syndrome, infantile form10.2
9hereditary spherocytosis10.2
10cronkhite-canada syndrome10.2
11autosomal recessive juvenile parkinson disease10.1
12achalasia10.1
13eosinophilic esophagitis10.1
14aortic disease10.1
15prosthetic joint infection10.1
16juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.1
17pancreatic carcinoma, somatic10.1
18juvenile polyposis of infancy10.1
19nasopharyngitis10.0
20pancreatitis10.0SMAD4
21leiomyoma10.0SMAD4
22biliary tract neoplasm10.0SMAD4
23rem sleep behavior disorder10.0
24lynch syndrome10.0
25sleep disorder10.0
26pituitary adenoma10.0APC
27gallbladder cancer10.0APC
28laryngeal squamous cell carcinoma10.0PTEN
29diabetes mellitus10.0BMP2
30bladder carcinoma10.0TGFA
31uterine carcinosarcoma10.0PTGS2
32intestinal neoplasm10.0APC
33nephroblastoma10.0CTNNB1
34alzheimer's disease10.0PTGS2
35intussusception10.0STK11
36pulmonary fibrosis10.0TGFA
37cholesteatoma10.0TGFA
38oligodendroglioma10.0PTEN
39spondylolisthesis10.0BMP2
40seminoma10.0SMAD4
41osteosarcoma10.0BMP2, SMAD4
42thyroid cancer10.0PTEN, APC
43laryngeal benign neoplasm10.0ENG
44meningioma10.0PTEN, TGFA
45fibrodysplasia ossificans progressiva10.0BMP2
46cholangiocarcinoma10.0SMAD4, PTGS2
47familial colorectal cancer10.0APC, PTEN
48choriocarcinoma10.0ENG
49gardner syndrome10.0CTNNB1, APC
50medulloblastoma10.0CTNNB1, APC

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



Diseases related to juvenile polyposis syndrome

Clinical Features for Juvenile Polyposis Syndrome

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46OMIM
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Clinical features from OMIM:

174900,175050,612242

Clinical synopsis from OMIM:

174900

Drugs & Therapeutics for Juvenile Polyposis Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

32
Colon, Brain, Heart, Small intestine, Bone

Animal Models for Juvenile Polyposis Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

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

Publications for Juvenile Polyposis Syndrome

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50PubMed
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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: a study of genotype, phenotype, and long-term outcome. (22965402)
2012
7
The real face of juvenile polyposis syndrome. (23205314)
2012
8
A unifying working hypothesis for juvenile polyposis syndrome and MAcnActrier's disease: specific localization or concomitant occurrence of a separate entity? (22748914)
2012
9
Giant stomach secondary to juvenile polyposis syndrome. (22005895)
2012
10
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. (22273206)
2011
11
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. (21111415)
2011
12
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. (21444082)
2011
13
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. (21267778)
2011
14
Juvenile polyposis syndrome. (22171123)
2011
15
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. (20682711)
2010
16
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. (20685751)
2010
17
Juvenile polyposis syndrome. (21291112)
2010
18
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. (20101697)
2010
19
Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes. (20012952)
2010
20
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. (19124115)
2009
21
Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States. (19407664)
2009
22
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. (19816839)
2009
23
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. (19412013)
2009
24
Efficacy of meloxicam in juvenile polyposis syndrome. A case report]. (19642502)
2009
25
Juvenile polyposis syndrome. (20011494)
2008
26
Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. (18160401)
2008
27
Juvenile polyposis syndrome affecting the stomach: a case report. (18826596)
2008
28
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (17873119)
2007
29
Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. (17325551)
2007
30
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome. (17362581)
2007
31
Mutation screening in juvenile polyposis syndrome. (16436638)
2006
32
Colonic surgery in patients with juvenile polyposis syndrome: a case series. (15690657)
2005
33
Images of interest. Gastrointestinal: juvenile polyposis syndrome. (15610462)
2005
34
A review of juvenile polyposis syndrome. (16246179)
2005
35
Low prevalence of loss of heterozygosity and SMAD4 mutations in sporadic and familial juvenile polyposis syndrome-associated juvenile polyps. (15447767)
2004
36
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). (15031030)
2004
37
Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome. (11938427)
2002
38
Fatal colorectal cancer in juvenile polyposis syndrome. (11993518)
2002
39
Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. (12221036)
2002
40
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
41
CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. (11355940)
2001
42
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. (10446110)
1999
43
Immunolocalization of beta catenin in intestinal polyps of Peutz-Jeghers and juvenile polyposis syndromes. (10560353)
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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Juvenile Polyposis Syndrome:

62 (show all 11)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome, 55SinoBiological, 52R&D Systems, 4Cell Signaling Technology, 59Tocris Bioscience, 12EMD Millipore
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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
49.9SMAD4, ENG
59.7BMPR1A, BMP2
69.7BMPR1A, BMP2
79.5STK11, ENG, SMAD4
89.4CTNNB1, APC
9
Hide members
9.4BMP2, BMPR1A, SMAD4
109.4SMAD4, BMPR1A, BMP2
119.4BMP2, BMPR1A, ENG
129.4BMP2, PTEN, SMAD4
139.2SMAD4, PTEN, CTNNB1
149.2TGFA, PTEN, APC
15
Hide members
9.2SMAD4, CTNNB1, APC
169.1SMAD4, BMP2, CTNNB1
179.1PTGS2, ENG, TGFA
189.1PTEN, CTNNB1, APC
199.0BMP2, CTNNB1, APC
20
Hide members
9.0APC, CTNNB1, BMP2
21
Hide members
8.8BMP2, BMPR1A, PTEN, TGFA
228.8SMAD4, BMPR1A, BMP2, CTNNB1
23
Hide members
8.8APC, CTNNB1, PTEN, SMAD4
24
Hide members
8.8APC, CTNNB1, PTEN, SMAD4
25
Hide members
8.7BMPR1A, BMP2, CTNNB1, APC
268.6CTNNB1, BMPR1A, STK11, PTEN, SMAD4
27
Hide members
8.5PTGS2, PTEN, CTNNB1, APC
28
Hide members
8.5TGFA, BMP2, CTNNB1, APC
298.4APC, CTNNB1, BMP2, BMPR1A, SMAD4
30
Hide members
8.2CTNNB1, BMP2, BMPR1A, PTEN, TGFA
317.9APC, CTNNB1, STK11, PTEN, PTGS2, SMAD4
32
Hide members
7.7APC, CTNNB1, BMP2, BMPR1A, STK11, PTEN
337.3TGFA, APC, CTNNB1, BMP2, PTEN, PTGS2
34
Hide members
6.9APC, CTNNB1, BMP2, BMPR1A, STK11, PTEN

Compounds for genes affiliated with Juvenile Polyposis Syndrome

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1pge24410.0PTGS2, PTEN
2dihydrotestosterone44 28 11 2412.8BMP2, ENG, SMAD4
3methylazoxymethanol acetate449.8APC, CTNNB1
41-hydroxyanthraquinone449.8CTNNB1, APC
5ketorolac44 1110.8BMP2, PTGS2
6samp449.8APC, CTNNB1
71,2-dimethylhydrazine449.7CTNNB1, APC
8azoxymethane449.6CTNNB1, APC
9steroid449.5TGFA, SMAD4, BMP2
10erlotinib44 49 1111.4TGFA, PTEN, PTGS2
112-amino-3-methylimidazo(4,5-f)quinoline449.3CTNNB1, APC
12exisulind449.3PTGS2, CTNNB1, APC
13cetuximab44 49 1111.3CTNNB1, TGFA, PTEN
14sulindac44 1110.3PTGS2, CTNNB1, APC
15trastuzumab44 49 1111.3CTNNB1, PTEN, TGFA
16crcs449.2APC, CTNNB1, PTEN, SMAD4
17matrigel449.2CTNNB1, TGFA, BMP2
18celecoxib44 59 28 49 11 2414.2APC, PTGS2, CTNNB1
195-aza-2deoxycytidine449.1PTEN, STK11, CTNNB1, APC
20ag 1478449.0CTNNB1, PTGS2, TGFA
21lovastatin44 49 59 28 1113.0CTNNB1, BMP2, PTEN
22indomethacin44 59 28 1111.9TGFA, PTGS2, APC, BMP2
23gefitinib44 49 1110.9CTNNB1, PTEN, PTGS2, TGFA
24wortmannin448.8CTNNB1, PTEN, BMP2, APC
25glycogen44 249.8PTEN, STK11, CTNNB1, APC
26doxorubicin44 49 1110.8TGFA, ENG, PTEN, CTNNB1
27agar448.8ENG, TGFA, PTEN, SMAD4, CTNNB1
28resveratrol44 59 11 2411.8TGFA, PTGS2, BMP2, CTNNB1
29ly294002448.6PTEN, CTNNB1, PTGS2, TGFA
30gf 109203x44 599.5CTNNB1, PTGS2, TGFA
31vitamin d448.5BMP2, CTNNB1, APC, PTEN, TGFA
32phosphotyrosine448.5PTEN, TGFA, CTNNB1, DUSP13
33oxygen44 249.5BMP2, PTGS2, PTEN, STK11, ENG
34genistein44 28 59 2 11 2413.4PTGS2, TGFA, CTNNB1, BMP2, PTEN
35tgf beta1448.3PTEN, ENG, TGFA, SMAD4, CTNNB1, BMP2
36serine448.3SMAD4, DUSP13, STK11, BMPR1A, APC, BMP2
37alanine448.3PTEN, SMAD4, STK11, CTNNB1, BMP2, TGFA
38testosterone44 59 11 2411.2TGFA, APC, CTNNB1, SMAD4, PTEN, BMP2
39rapamycin448.2TGFA, PTEN, STK11, BMP2, APC, CTNNB1
40pd 98,059448.1SMAD4, PTEN, BMP2, CTNNB1, PTGS2, TGFA
41paraffin448.0STK11, CTNNB1, TGFA, SMAD4, ENG, PTEN
42lipid448.0ENG, STK11, DUSP13, BMP2, APC, PTEN
43phosphatidylinositol447.9PTEN, APC, CTNNB1, TGFA, DUSP13
44oligonucleotide447.9CTNNB1, BMP2, APC, PTEN, ENG, TGFA
45arginine447.8DUSP13, TGFA, SMAD4, PTEN, BMP2, CTNNB1
46cysteine447.7DUSP13, TGFA, CTNNB1, BMP2, PTEN, ENG
47vegf447.5CTNNB1, PTEN, TGFA, SMAD4, ENG, PTGS2
48progesterone44 59 28 11 2411.4TGFA, APC, CTNNB1, BMP2, DUSP13, PTEN
49tyrosine447.1ENG, SMAD4, PTEN, DUSP13, BMP2, APC
50threonine447.0BMPR1A, CTNNB1, DUSP13, PTEN, ENG, SMAD4

GO Terms for genes affiliated with Juvenile Polyposis Syndrome

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16Gene Ontology
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Cellular components related to Juvenile Polyposis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:0308779.4CTNNB1, APC
2cell-cell adherens junctionGO:0059139.4CTNNB1, APC
3nucleusGO:0056346.8APC, CTNNB1, STK11, PTEN, PTGS2, ENG
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:0050249.9ENG, BMPR1A
2I-SMAD bindingGO:0704119.7SMAD4, CTNNB1
3R-SMAD bindingGO:0704129.6SMAD4, CTNNB1
4cadherin bindingGO:0452969.3APC, CTNNB1
5protein tyrosine/serine/threonine phosphatase activityGO:0081389.3PTEN, DUSP13
6SMAD bindingGO:0463329.3BMPR1A, BMP2, CTNNB1
7protein homodimerization activityGO:0428038.8SMAD4, ENG, PTGS2, BMPR1A
8protein bindingGO:0055157.0APC, CTNNB1, BMP2, BMPR1A, STK11, PTEN

Products for genes affiliated with Juvenile Polyposis Syndrome

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Sources for Juvenile Polyposis Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet