JIP
MCID: JVN014
MIFTS: 76

Juvenile Polyposis Syndrome (JIP) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories
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Summaries for Juvenile Polyposis Syndrome

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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 based summary: Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to bannayan-riley-ruvalcaba syndrome and peutz-jeghers syndrome, and has symptoms including intestinal/colonic anomaly, polyposis of the bowel/colon/intestine and anus/rectum anomalies. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD family member 4), and among its related pathways are TGF-beta/Smad Signaling and LKB1 signaling events. The compounds 1-hydroxyanthraquinone and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and heart, and related mouse phenotypes are pigmentation and adipose tissue.

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

Descriptions from OMIM:46 174900,175050,612242

GeneReviews summary for jps

Aliases & Classifications for Juvenile Polyposis Syndrome

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Juvenile Polyposis Syndrome, Aliases & Descriptions:

Name: Juvenile Polyposis Syndrome 8 19 42 20 22 21 44 48 62
Juvenile Intestinal Polyposis 42 21 48
Jps 42 21 48
Jip 42 21 48
Polyposis, Juvenile Intestinal 46 62
 
Generalized Juvenile Polyposis/juvenile Polyposis Coli 48
Polyposis Familial of Entire Gastrointestinal Tract 42
Juvenile Gastrointestinal Polyposis 48
Polyposis Juvenile Intestinal 42
Pji 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Age of onset: Variable
generalized juvenile polyposis/juvenile polyposis coli:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:0050787
ICD10 via Orphanet26 D12.6

Related Diseases for Juvenile Polyposis Syndrome

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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 75)
idRelated DiseaseScoreTop Affiliating Genes
1bannayan-riley-ruvalcaba syndrome30.8PTEN, BMPR1A
2peutz-jeghers syndrome29.9CTNNB1, PTEN, STK11, APC, BMPR1A
3colorectal cancer29.1STK11, PTGS2, SMAD4, APC, PTEN, ENG
4adenocarcinoma28.4CTNNB1, TGFA, ENG, APC, STK11, SMAD4
5intussusception10.5STK11
6prosthetic joint infection10.4
7spondylolisthesis10.4BMP2
8hereditary hemorrhagic telangiectasia10.3
9esophagitis10.3
10juvenile polyposis syndrome, infantile form10.3
11familial colorectal cancer10.3PTEN, APC
12gastrinoma10.3APC, SMAD4
13arteriovenous malformation10.3SMAD4, ENG
14telangiectasis10.3ENG, SMAD4
15thyroid adenoma10.2PTEN, APC
16cronkhite-canada syndrome10.2
17autosomal recessive juvenile parkinson disease10.2
18telangiectasia, hereditary hemorrhagic, type 510.2ENG, BMPR1A, SMAD4
19precocious puberty10.1APC, TGFA
20gastric cancer10.1
21eosinophilic esophagitis10.1
22achalasia10.1
23aortic disease10.1
24ruvalcaba syndrome10.1
25juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.1
26pancreatic carcinoma, somatic10.1
27juvenile polyposis of infancy10.1
28cowden disease10.1BMPR1A, SMAD4, PTEN, STK11
29gardner syndrome10.1APC, CTNNB1
30desmoid tumor10.1CTNNB1, APC
31colorectal cancer, somatic10.1CTNNB1, APC
32nasopharyngitis10.1
33cervical cancer10.1SMAD4, PTGS2, STK11
34esophageal cancer10.1SMAD4, APC, TGFA
35pilomatrixoma10.1CTNNB1, BMP2
36uveal melanoma10.1ENG, SMAD4
37fibromatosis10.1CTNNB1, APC
38rem sleep behavior disorder10.0
39lynch syndrome10.0
40endometrial carcinoma10.0PTEN, CTNNB1
41lung benign neoplasm10.0SMAD4, APC, STK11, BMP2
42thyroid cancer, anaplastic10.0CTNNB1, PTEN
43endometriosis10.0PTGS2, ENG, PTEN
44pituitary tumors10.0BMP2, APC, TGFA
45papilloma10.0TGFA, STK11, ENG
46turcot syndrome10.0PTEN, APC, CTNNB1
47barrett's esophagus10.0TGFA, PTGS2, APC
48retinoblastoma10.0APC, BMP2, SMAD4
49squamous cell carcinoma of the head and neck10.0PTGS2, SMAD4, TGFA
50lung cancer9.9BMP2, PTGS2, STK11

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



Diseases related to juvenile polyposis syndrome

Symptoms for Juvenile Polyposis Syndrome

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Symptoms by clinical synopsis from OMIM:

174900

Clinical features from OMIM:

174900,175050,612242

Symptoms:

48 (show all 28)
  • intestinal/colonic anomaly
  • polyposis of the bowel/colon/intestine
  • anus/rectum anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • autosomal dominant inheritance
  • anaemia
  • colon neoplasm/tumor/carcinoma/cancer
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • polydactyly of toes
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • stomach/gastric anomaly
  • intestinal/bowel fistulae
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • lymphedema
  • renal/kidney anomalies
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • communicating hydrocephaly
  • anomalies of bones/skeletal anomalies
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Juvenile Polyposis Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 gastrointestinal hemorrhage hallmark (90%) HP:0002239
3 intestinal polyposis hallmark (90%) HP:0200008
4 anemia common (75%) HP:0001903
5 diarrhea common (75%) HP:0002014
6 abdominal pain common (75%) HP:0002027
7 multiple gastric polyps common (75%) HP:0004394
8 anemia typical (50%) HP:0001903
9 neoplasm of the colon typical (50%) HP:0100273
10 failure to thrive frequent (33%) HP:0001508
11 colon cancer 20% HP:0003003
12 clubbing occasional (7.5%) HP:0001217
13 rectal prolapse occasional (7.5%) HP:0002035
14 hematochezia occasional (7.5%) HP:0002573
15 intussusception occasional (7.5%) HP:0002576
16 duodenal carcinoma occasional (7.5%) HP:0006771
17 abnormality of female internal genitalia occasional (7.5%) HP:0000008
18 cryptorchidism occasional (7.5%) HP:0000028
19 abnormality of the kidney occasional (7.5%) HP:0000077
20 macrocephaly occasional (7.5%) HP:0000256
21 hypertelorism occasional (7.5%) HP:0000316
22 lymphedema occasional (7.5%) HP:0001004
23 communicating hydrocephalus occasional (7.5%) HP:0001334
24 defect in the atrial septum occasional (7.5%) HP:0001631
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 patent ductus arteriosus occasional (7.5%) HP:0001643
27 abnormality of the aorta occasional (7.5%) HP:0001679
28 foot polydactyly occasional (7.5%) HP:0001829
29 abnormality of the stomach occasional (7.5%) HP:0002577
30 neoplasm of the pancreas occasional (7.5%) HP:0002894
31 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
32 teleangiectasia of the skin occasional (7.5%) HP:0100585
33 intestinal fistula occasional (7.5%) HP:0100819
34 autosomal dominant inheritance HP:0000006
35 hypokalemia HP:0002900
36 hypoalbuminemia HP:0003073

Drugs & Therapeutics for Juvenile Polyposis Syndrome

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Drug clinical trials:

Search ClinicalTrials for Juvenile Polyposis Syndrome

Search NIH Clinical Center for Juvenile Polyposis Syndrome

Genetic Tests for Juvenile Polyposis Syndrome

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Genetic tests related to Juvenile Polyposis Syndrome:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome20 22 SMAD4

Anatomical Context for Juvenile Polyposis Syndrome

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MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

32
Colon, Brain, Heart, Small intestine, Testes, Bone, Kidney, Pancreas, Skin, Uterus

Animal Models for Juvenile Polyposis Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

36 (show all 28)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8CTNNB1, BMPR1A, APC, PTEN
2MP:00053758.6TGFA, APC, PTEN, PTGS2
3MP:00053778.4APC, BMPR1A, BMP2, CTNNB1
4MP:00053718.4PTEN, APC, BMPR1A, BMP2, CTNNB1
5MP:00030128.2PTGS2, APC, STK11, BMPR1A, CTNNB1
6MP:00053888.1PTGS2, PTEN, STK11, BMPR1A, ENG, CTNNB1
7MP:00053708.1SMAD4, PTGS2, PTEN, APC, STK11, CTNNB1
8MP:00053678.1SMAD4, PTGS2, PTEN, APC, STK11, CTNNB1
9MP:00020067.9SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
10MP:00053867.7SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
11MP:00053917.7PTGS2, PTEN, APC, TGFA, STK11, BMPR1A
12MP:00053977.6SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
13MP:00053907.5PTGS2, PTEN, APC, TGFA, BMPR1A, BMP2
14MP:00053827.5PTEN, APC, TGFA, STK11, BMPR1A, BMP2
15MP:00053797.4SMAD4, PTGS2, PTEN, APC, TGFA, STK11
16MP:00053877.3SMAD4, PTGS2, PTEN, APC, TGFA, STK11
17MP:00053817.3SMAD4, PTGS2, PTEN, APC, TGFA, STK11
18MP:00053807.2SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
19MP:00028737.2SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
20MP:00053847.2SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
21MP:00053697.2SMAD4, PTGS2, PTEN, APC, TGFA, STK11
22MP:00107717.1SMAD4, PTGS2, PTEN, APC, TGFA, STK11
23MP:00036317.1SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
24MP:00053767.1SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
25MP:00107687.1SMAD4, PTGS2, PTEN, APC, STK11, BMPR1A
26MP:00053897.0SMAD4, PTGS2, PTEN, APC, TGFA, STK11
27MP:00053856.7CTNNB1, SMAD4, PTGS2, PTEN, APC, TGFA
28MP:00053786.7SMAD4, PTGS2, PTEN, APC, TGFA, STK11

Publications for Juvenile Polyposis Syndrome

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Articles related to Juvenile Polyposis Syndrome:

(show all 49)
idTitleAuthorsYear
1
Juvenile polyposis syndrome. (25097590)
2014
2
Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome. (25129392)
2014
3
Genotype-defined cancer risk in juvenile polyposis syndrome. (25389115)
2014
4
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. (22993021)
2013
5
Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? (23969542)
2013
6
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. (23239472)
2013
7
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. (22810475)
2012
8
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. (22826269)
2012
9
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. (22965402)
2012
10
The real face of juvenile polyposis syndrome. (23205314)
2012
11
A unifying working hypothesis for juvenile polyposis syndrome and MAcnActrier's disease: specific localization or concomitant occurrence of a separate entity? (22748914)
2012
12
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. (22617360)
2012
13
Giant stomach secondary to juvenile polyposis syndrome. (22005895)
2012
14
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. (21572342)
2012
15
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. (22273206)
2011
16
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. (21111415)
2011
17
Video imaging of the gastrointestinal tract in a patient with juvenile polyposis syndrome. (21723226)
2011
18
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. (21444082)
2011
19
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. (21267778)
2011
20
Juvenile polyposis syndrome. (22171123)
2011
21
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. (20682711)
2010
22
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. (20685751)
2010
23
Juvenile polyposis syndrome. (21291112)
2010
24
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. (19124115)
2009
25
Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States. (19407664)
2009
26
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. (19816839)
2009
27
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. (19412013)
2009
28
Efficacy of meloxicam in juvenile polyposis syndrome. A case report]. (19642502)
2009
29
Pediatric juvenile polyposis syndromes: an update. (19463221)
2009
30
Juvenile polyposis syndrome. (20011494)
2008
31
Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. (18160401)
2008
32
Juvenile polyposis syndrome affecting the stomach: a case report. (18826596)
2008
33
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (17873119)
2007
34
Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. (17325551)
2007
35
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome. (17362581)
2007
36
Mutation screening in juvenile polyposis syndrome. (16436638)
2006
37
Colonic surgery in patients with juvenile polyposis syndrome: a case series. (15690657)
2005
38
Images of interest. Gastrointestinal: juvenile polyposis syndrome. (15610462)
2005
39
A review of juvenile polyposis syndrome. (16246179)
2005
40
Low prevalence of loss of heterozygosity and SMAD4 mutations in sporadic and familial juvenile polyposis syndrome-associated juvenile polyps. (15447767)
2004
41
Diversity in polyp pathology and distribution of Familial Juvenile Polyposis Syndrome. (11938427)
2002
42
Fatal colorectal cancer in juvenile polyposis syndrome. (11993518)
2002
43
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)
2001
44
Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. (10446110)
1999
45
Immunolocalization of beta catenin in intestinal polyps of Peutz-Jeghers and juvenile polyposis syndromes. (10560353)
1999
46
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. (9811934)
1998
47
Genetic alterations and epithelial dysplasia in juvenile polyposis syndrome and sporadic juvenile polyps. (9060832)
1997
48
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. (9371495)
1997
49
Juvenile Polyposis Syndrome (20301642)
1993

Variations for Juvenile Polyposis Syndrome

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

64 (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

Clinvar genetic disease variations for Juvenile Polyposis Syndrome:

6 (show all 76)
id Gene Name Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1244_1247delACAG (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593493: 48593496
2SMAD4NM_005359.5: c.(?_-17093)_(1659_?)deldeletionPathogenic
3SMAD4NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
4SMAD4NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
5SMAD4NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)single nucleotide variantPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
6SMAD4NM_005359.5(SMAD4): c.425-6A> Gsingle nucleotide variantPathogenicrs377767327GRCh37Chr 18, 48575659: 48575659
7SMAD4NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
8SMAD4NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)single nucleotide variantPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
9SMAD4NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
10SMAD4NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)single nucleotide variantPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
11SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
12SMAD4NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
13SMAD4NM_005359.5(SMAD4): c.668-?_1659+?deldeletionPathogenic
14SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584520
15SMAD4NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
16SMAD4NM_005359.5(SMAD4): c.788-?_1659+?deldeletionPathogenic
17SMAD4NM_005359.5(SMAD4): c.829_830delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584751: 48584752
18SMAD4NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs)deletionPathogenicrs377767337GRCh37Chr 18, 48584753: 48584754
19SMAD4NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
20SMAD4NM_005359.5(SMAD4): c.970T> C (p.Cys324Arg)single nucleotide variantPathogenicrs377767339GRCh37Chr 18, 48591807: 48591807
21SMAD4NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
22SMAD4NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591820
23SMAD4NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
24SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)single nucleotide variantLikely pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
25SMAD4NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
26SMAD4NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
27SMAD4NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)single nucleotide variantPathogenicrs121912581GRCh37Chr 18, 48591891: 48591891
28SMAD4NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)single nucleotide variantPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
29SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)single nucleotide variantPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
30SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
31SMAD4NM_005359.5(SMAD4): c.1139+1G> Asingle nucleotide variantPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
32SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)single nucleotide variantPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
33SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)single nucleotide variantPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
34SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)single nucleotide variantPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
35SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)single nucleotide variantPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
36SMAD4NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
37SMAD4NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh37Chr 18, 48593517: 48593517
38SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
39SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
40SMAD4NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
41SMAD4NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
42SMAD4NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
43SMAD4NM_005359.5(SMAD4): c.1411_1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
44SMAD4NM_005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
45SMAD4NM_005359.5(SMAD4): c.1472G> T (p.Gly491Val)single nucleotide variantPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
46SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)single nucleotide variantPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
47SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)single nucleotide variantPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
48SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)single nucleotide variantPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
49SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)single nucleotide variantPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
50SMAD4NM_005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
51SMAD4NM_005359.5(SMAD4): c.1547_1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
52SMAD4NM_005359.5(SMAD4): c.1564_1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
53SMAD4NM_005359.5(SMAD4): c.1571G> T (p.Trp524Leu)single nucleotide variantPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
54SMAD4NM_005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604766
55SMAD4NM_005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
56SMAD4NM_005359.5(SMAD4): c.1597C> G (p.Leu533Val)single nucleotide variantPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
57SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604786
58SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)single nucleotide variantPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
59SMAD4NM_005359.5(SMAD4): c.424+1G> Asingle nucleotide variantPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
60SMAD4NM_005359.5: c.189_197delAAATGGAGCins44indelPathogenicGRCh37Chr 18, 48573605: 48573613
61BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
62BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
63BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)single nucleotide variantPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
64BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
65BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)single nucleotide variantPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
66BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)single nucleotide variantPathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
67BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)single nucleotide variantPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
68BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)single nucleotide variantPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
69SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
70SMAD4SMAD4, 2-BP DELdeletionPathogenic
71SMAD4SMAD4, 1-BP INSinsertionPathogenic
72SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
73SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenic
74SMAD4NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)single nucleotide variantPathogenicrs121912580GRCh37Chr 18, 48593406: 48593406
75SMAD4SMAD4, 14-BP DEL, NT1612deletionPathogenic
76SMAD4SMAD4, 2-BP DEL/1-BP INS, 1596CC/TindelPathogenic

Expression for genes affiliated with Juvenile Polyposis Syndrome

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

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SMAD4, ENG
29.8STK11, SMAD4
39.7BMPR1A, BMP2
49.7APC, PTEN
59.6CTNNB1, SMAD4
6
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5SMAD4, PTEN, STK11
79.4APC, CTNNB1
89.4CTNNB1, APC
9
Show member pathways
9.4BMP2, BMPR1A, SMAD4
10
Show member pathways
BMP receptor signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.4BMP2, BMPR1A, SMAD4
119.4SMAD4, PTEN, BMP2
129.2CTNNB1, ENG, SMAD4
13
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.2PTGS2, PTEN, STK11
149.2SMAD4, PTEN, CTNNB1
159.2PTGS2, PTEN, APC
169.2TGFA, APC, PTEN
179.2CTNNB1, APC, SMAD4
18
Show member pathways
Wnt Signaling Pathway NetPath37
9.2SMAD4, APC, CTNNB1
199.1CTNNB1, BMP2, SMAD4
209.1SMAD4, BMPR1A, BMP2, ENG
219.1PTGS2, TGFA, ENG
229.1CTNNB1, APC, PTEN
23
Show member pathways
9.0APC, BMP2, CTNNB1
249.0CTNNB1, BMP2, APC
25
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.0CTNNB1, PTEN, PTGS2
26
Show member pathways
Signaling Pathways in Glioblastoma37
9.0CTNNB1, TGFA, PTEN
278.9CTNNB1, APC, PTGS2
288.9CTNNB1, APC, PTGS2
298.9SMAD4, STK11, ENG, CTNNB1
30
Show member pathways
8.8BMP2, BMPR1A, TGFA, PTEN
318.8CTNNB1, BMP2, BMPR1A, SMAD4
32
Show member pathways
Signal transduction PTEN pathway60
8.8CTNNB1, APC, PTEN, SMAD4
33
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
8.8SMAD4, PTEN, APC, CTNNB1
34
Show member pathways
8.7CTNNB1, BMP2, BMPR1A, APC
35
Show member pathways
8.6BMP2, STK11, TGFA, PTGS2
368.6SMAD4, PTEN, STK11, BMPR1A, CTNNB1
37
Show member pathways
8.5APC, TGFA, BMP2, CTNNB1
388.4SMAD4, APC, BMPR1A, BMP2, CTNNB1
39
Show member pathways
8.2PTEN, TGFA, BMPR1A, BMP2, CTNNB1
407.9SMAD4, PTGS2, PTEN, APC, STK11, CTNNB1
41
Show member pathways
7.7SMAD4, PTEN, APC, STK11, BMPR1A, BMP2
427.3CTNNB1, SMAD4, PTGS2, PTEN, APC, TGFA
43
Show member pathways
6.9PTGS2, PTEN, APC, TGFA, STK11, BMPR1A

Compounds for genes affiliated with Juvenile Polyposis Syndrome

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

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone449.8CTNNB1, APC
2methylazoxymethanol acetate449.8APC, CTNNB1
3ketorolac44 1110.7PTGS2, BMP2
4samp449.7APC, CTNNB1
51,2-dimethylhydrazine449.6CTNNB1, APC
6erlotinib44 50 1111.4TGFA, PTEN, PTGS2
7cetuximab44 50 1111.3CTNNB1, TGFA, PTEN
8exisulind449.3APC, CTNNB1, PTGS2
9sulindac44 1110.3APC, CTNNB1, PTGS2
10trastuzumab44 50 1111.2TGFA, CTNNB1, PTEN
11crcs449.2CTNNB1, PTEN, APC, SMAD4
12celecoxib44 61 28 50 24 1114.1PTGS2, APC, CTNNB1
135-aza-2deoxycytidine449.1CTNNB1, APC, PTEN, STK11
14lovastatin44 50 61 28 1113.0CTNNB1, BMP2, PTEN
15ag 1478448.9PTGS2, CTNNB1, TGFA
16matrigel448.9CTNNB1, ENG, BMP2, TGFA
17indomethacin44 28 61 1111.9TGFA, BMP2, APC, PTGS2
18gefitinib44 50 1110.8CTNNB1, TGFA, PTEN, PTGS2
19agar448.8ENG, PTEN, CTNNB1, TGFA, SMAD4
20wortmannin448.8CTNNB1, PTEN, BMP2, APC
21resveratrol44 61 24 1111.7PTGS2, CTNNB1, TGFA, BMP2
22glycogen44 249.7PTEN, CTNNB1, APC, STK11
23doxorubicin44 50 1110.7CTNNB1, ENG, TGFA, PTEN
24dihydrotestosterone44 28 24 1111.7BMP2, TGFA, CTNNB1, SMAD4, ENG
25ly294002448.6PTGS2, CTNNB1, TGFA, PTEN
26steroid448.5SMAD4, CTNNB1, PTEN, TGFA, BMP2
27vitamin d448.5PTEN, APC, TGFA, CTNNB1, BMP2
28phosphotyrosine448.4PTEN, TGFA, DUSP13, CTNNB1
29oxygen44 249.4BMP2, STK11, PTEN, PTGS2, ENG
30genistein44 28 61 2 24 1113.4PTGS2, BMP2, CTNNB1, TGFA, PTEN
31tgf beta1448.3TGFA, SMAD4, PTEN, BMP2, ENG, CTNNB1
32alanine448.3PTEN, TGFA, SMAD4, STK11, BMP2, CTNNB1
33testosterone44 61 24 1111.2BMP2, TGFA, APC, PTEN, SMAD4, CTNNB1
34rapamycin448.2BMP2, CTNNB1, STK11, APC, PTEN, TGFA
35pd 98,059448.1SMAD4, PTGS2, PTEN, BMP2, CTNNB1, TGFA
36lipid448.1ENG, BMP2, STK11, DUSP13, PTEN, APC
37paraffin448.0SMAD4, ENG, PTEN, APC, CTNNB1, TGFA
38pge2448.0PTGS2, BMP2, PTEN, APC, CTNNB1, TGFA
39cycloheximide448.0CTNNB1, PTGS2, PTEN, APC, TGFA, BMP2
40phosphatidylinositol448.0CTNNB1, DUSP13, TGFA, APC, PTEN
41oligonucleotide447.9TGFA, SMAD4, PTEN, CTNNB1, ENG, APC
42retinoic acid44 248.8BMP2, CTNNB1, APC, PTEN, TGFA
43arginine447.8BMP2, SMAD4, CTNNB1, TGFA, PTEN, DUSP13
44cysteine447.7DUSP13, CTNNB1, ENG, BMP2, PTEN, TGFA
45vegf447.5CTNNB1, ENG, STK11, BMP2, PTGS2, TGFA
46estrogen447.4CTNNB1, ENG, TGFA, PTEN, PTGS2, SMAD4
47progesterone44 28 61 24 1111.4PTEN, APC, ENG, TGFA, CTNNB1, BMP2
48tyrosine447.1APC, ENG, CTNNB1, BMP2, DUSP13, TGFA
49threonine447.0DUSP13, SMAD4, PTEN, APC, STK11, BMPR1A
50serine446.5ENG, TGFA, BMP2, BMPR1A, STK11, DUSP13

GO Terms for genes affiliated with Juvenile Polyposis Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:0308779.6CTNNB1, APC
2cell-cell adherens junctionGO:0059139.4CTNNB1, APC
3cytoplasmic side of plasma membraneGO:0098989.4PTEN, CTNNB1
4centrosomeGO:0058139.2CTNNB1, APC, SMAD4
5lateral plasma membraneGO:0163289.1CTNNB1, APC
6nucleusGO:0056347.1SMAD4, PTGS2, PTEN, APC, TGFA, STK11
7cytoplasmGO:0057376.9CTNNB1, SMAD4, PTGS2, PTEN, APC, DUSP13

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1response to transforming growth factor betaGO:07155910.3ENG, SMAD4
2positive regulation of SMAD protein import into nucleusGO:06039110.3BMPR1A, SMAD4
3regulation of transforming growth factor beta receptor signaling pathwayGO:01701510.2ENG, SMAD4
4positive regulation of transforming growth factor beta receptor signaling pathwayGO:03051110.2SMAD4, STK11
5developmental growthGO:04858910.2BMPR1A, SMAD4
6positive regulation of BMP signaling pathwayGO:03051310.2SMAD4, ENG
7negative regulation of epithelial cell proliferation involved in prostate gland developmentGO:06077010.1STK11, APC
8SMAD protein signal transductionGO:06039510.1BMP2, SMAD4
9positive regulation of epithelial to mesenchymal transitionGO:01071810.0BMP2, SMAD4
10positive regulation of bone mineralizationGO:03050110.0BMP2, BMPR1A
11transforming growth factor beta receptor signaling pathwayGO:00717910.0ENG, BMPR1A, SMAD4
12central nervous system vasculogenesisGO:02200910.0CTNNB1, ENG
13dorsal/ventral axis specificationGO:00995010.0CTNNB1, BMPR1A
14ectoderm developmentGO:0073989.9CTNNB1, BMPR1A
15gastrulation with mouth forming secondGO:0017029.9CTNNB1, SMAD4
16canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:0443369.9CTNNB1, APC
17response to hypoxiaGO:0016669.8ENG, BMP2, SMAD4
18proximal/distal pattern formationGO:0099549.8CTNNB1, APC
19positive regulation of mesenchymal cell proliferationGO:0020539.8BMPR1A, CTNNB1
20cell migrationGO:0164779.8PTEN, APC, ENG
21bone mineralizationGO:0302829.8PTGS2, BMP2
22patterning of blood vesselsGO:0015699.7ENG, CTNNB1
23T cell differentiation in thymusGO:0330779.7APC, CTNNB1
24positive regulation of cell divisionGO:0517819.7APC, TGFA
25negative regulation of cell cycleGO:0457869.6PTGS2, BMP2
26epithelial to mesenchymal transitionGO:0018379.6BMP2, CTNNB1
27thymus developmentGO:0485389.6CTNNB1, APC
28embryonic digit morphogenesisGO:0427339.6BMPR1A, CTNNB1
29memoryGO:0076139.6PTGS2, PTEN
30positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6SMAD4, BMPR1A, BMP2, ENG
31BMP signaling pathwayGO:0305099.6ENG, BMP2, BMPR1A, SMAD4
32branching involved in ureteric bud morphogenesisGO:0016589.5CTNNB1, BMP2, SMAD4
33positive regulation of osteoblast differentiationGO:0456699.5BMPR1A, BMP2, CTNNB1
34odontogenesis of dentin-containing toothGO:0424759.5CTNNB1, BMP2, BMPR1A
35cellular response to mechanical stimulusGO:0712609.4PTGS2, ENG, CTNNB1
36angiogenesisGO:0015259.4TGFA, PTEN, PTGS2
37response to estradiolGO:0323559.4PTGS2, PTEN, CTNNB1
38cellular component disassembly involved in execution phase of apoptosisGO:0069219.3APC, CTNNB1
39cell proliferationGO:0082839.3TGFA, PTEN, SMAD4
40in utero embryonic developmentGO:0017019.2SMAD4, BMPR1A, BMP2, CTNNB1
41positive regulation of transcription, DNA-templatedGO:0458939.2SMAD4, BMPR1A, BMP2, CTNNB1
42canonical Wnt signaling pathwayGO:0600709.2PTEN, APC, STK11, CTNNB1
43negative regulation of transcription from RNA polymerase II promoterGO:0001229.2SMAD4, BMP2, ENG, CTNNB1
44positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SMAD4, BMP2, ENG, CTNNB1
45protein phosphorylationGO:0064689.1STK11, BMPR1A, BMP2
46response to drugGO:0424938.9CTNNB1, TGFA, PTEN, PTGS2
47positive regulation of apoptotic processGO:0430658.5CTNNB1, BMP2, APC, PTEN, PTGS2
48negative regulation of cell proliferationGO:0082857.9CTNNB1, BMP2, STK11, APC, PTEN, PTGS2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00502410.0ENG, BMPR1A
2I-SMAD bindingGO:0704119.7CTNNB1, SMAD4
3R-SMAD bindingGO:0704129.7SMAD4, CTNNB1
4cadherin bindingGO:0452969.4CTNNB1, APC
5SMAD bindingGO:0463329.3CTNNB1, BMP2, BMPR1A
6protein homodimerization activityGO:0428039.1ENG, BMPR1A, PTGS2, SMAD4
7protein kinase bindingGO:0199019.1CTNNB1, APC, PTEN
8protein tyrosine/serine/threonine phosphatase activityGO:0081389.0PTEN, DUSP13
9enzyme bindingGO:0198998.9PTGS2, PTEN, CTNNB1
10protein bindingGO:0055157.0SMAD4, PTEN, APC, TGFA, STK11, BMPR1A

Products for genes affiliated with Juvenile Polyposis Syndrome

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet