JPS
MCID: JVN014
MIFTS: 61

Juvenile Polyposis Syndrome (JPS)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Juvenile Polyposis Syndrome

MalaCards integrated aliases for Juvenile Polyposis Syndrome:

Name: Juvenile Polyposis Syndrome 57 12 24 53 25 59 75 37 29 55 6 15 73
Juvenile Intestinal Polyposis 57 53 25 59 75
Jps 57 53 25 59 75
Jip 57 53 25 59 75
Juvenile Gastrointestinal Polyposis 59 29 73
Juvenile Polyposis Syndrome, Infantile Form 57 13
Pji 57 53
Polyposis, Familial, of Entire Gastrointestinal Tract 57
Polyposis Familial of Entire Gastrointestinal Tract 53
Polyposis, Juvenile Intestinal; Pji 57
Juvenile Intestinal Polyposis; Jip 57
Polyposis, Juvenile Intestinal 57
Polyposis Juvenile Intestinal 53
Polyposis Syndrome, Juvenile 40
Juvenile Polyposis 6

Characteristics:

Orphanet epidemiological data:

59
juvenile polyposis syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
juvenile polyposis syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance One study evaluating 34 affected individuals with an smad4 pathogenic variant from 20 families revealed that 31/32 (97%) developed colonic polyps (diagnosed between ages 4 and 51 years), 21/31 (68%) developed gastric polyps, and 76% had some feature of hht [wain et.al 2014]. in some instances, hht-related symptoms in individuals with smad4 pathogenic variants may be present prior to the onset of polyps [author, personal observations]. similar numbers are not available for individuals with bmpr1a pathogenic variants. however, aytac et al [2015] reported a similar colon and small bowel phenotype among individuals with an smad4 or bmpr1a pathogenic variant in the number and location of the polyps and surgical rates...

Classifications:



Summaries for Juvenile Polyposis Syndrome

NIH Rare Diseases : 53 Juvenile polyposis syndrome (JPS) is a disorder characterized by having a susceptibility to developing hamartomatous polyps in the gastrointestinal (GI) tract. A hamartomatous polyp is a benign (noncancerous) tumor-like malformation made up of an abnormal mixture of cells and tissues. In JPS, these polyps can occur in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp and not the age at which the polyps develop. Most people with JPS have some polyps by the age of age 20. The number of polyps in affected people vary. While some people may have only four or five polyps over their lifetime, others (even in the same family) may have more than 100. If the polyps are left untreated, they can result in bleeding and anemia. Most juvenile polyps are benign, although over time they can become cancerous. In families with JPS, the risk for developing a GI cancer ranges from 9% to 50%. Most of this risk is due to colon cancer. The incidence of colorectal cancer in people with JPS is 17%-22% by the age of 35 and as high as 68% by the age of 60. Cancers of the stomach, upper GI tract, and pancreas have also been observed. To date, mutations in two genes are known to cause JPS: BMPR1A and SMAD4.  Management of JPS includes routine colonoscopy with removal of any polyps to reduce the risk of bleeding, intestinal obstruction, and colon cancer. When the number of polyps is large, removal of all or part of the colon or stomach may become needed. Additional screening can include upper endoscopy, complete blood count, and monitoring for symptoms such as rectal bleeding and/or anemia abdominal pain, constipation, diarrhea, or change in stool size, shape, and/or color.

MalaCards based summary : Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to juvenile polyposis of infancy and polyposis, skin pigmentation, alopecia, and fingernail changes. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. The drugs Pancrelipase and Metformin have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and brain, and related phenotypes are failure to thrive and hypokalemia

Disease Ontology : 12 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.

Genetics Home Reference : 25 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.

OMIM : 57 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS. (174900)

UniProtKB/Swiss-Prot : 75 Juvenile polyposis syndrome: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.

Wikipedia : 76 Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in... more...

GeneReviews: NBK1469

Related Diseases for Juvenile Polyposis Syndrome

Diseases in the Juvenile Polyposis Syndrome family:

Juvenile Polyposis of Infancy

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

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis of infancy 32.0 PTEN BMPR1A
2 polyposis, skin pigmentation, alopecia, and fingernail changes 30.0 PTEN BMPR1A
3 chromosome 10q23 deletion syndrome 30.0 PTEN BMPR1A
4 cowden disease 29.7 STK11 SMAD4 PTEN BMPR1A
5 cowden syndrome 1 29.7 PTEN MUTYH BMPR1A
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.7 STK11 PTEN
7 peutz-jeghers syndrome 29.2 STK11 SMAD4 PTEN APC
8 gastric cancer 29.0 SMAD4 PTGS2 PTEN MUTYH APC
9 adenocarcinoma 28.9 STK11 SMAD4 PTGS2 PTEN APC
10 colorectal cancer 28.6 STK11 SMAD4 PTGS2 PTEN MUTYH APC
11 breast cancer 28.5 STK11 SMAD4 PTGS2 PTEN BMPR1A APC
12 generalized juvenile polyposis/juvenile polyposis coli 12.3
13 prosthetic joint infection 12.1
14 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.2
15 telangiectasia, hereditary hemorrhagic, type 4 11.1
16 chromosome 10q22.3-q23.2 deletion syndrome 11.1
17 periodontitis, aggressive, 1 11.1
18 parkinson disease 2, autosomal recessive juvenile 11.1
19 hereditary hemorrhagic telangiectasia 10.2
20 hypoglycemia 10.2
21 familial colorectal cancer type x 10.2 SMAD4 BMPR1A
22 nasopharyngeal carcinoma 10.1
23 japanese encephalitis 10.1
24 hereditary mixed polyposis syndrome 10.1 PTGS2 BMPR1A
25 esophagus adenocarcinoma 10.1 SMAD4 PTGS2
26 venous malformations, multiple cutaneous and mucosal 10.1 SMAD4 PTEN
27 bowenoid papulosis 10.0
28 gastrointestinal carcinoma 10.0
29 spondylolisthesis 10.0 PTGS2 BMP2
30 neurofibromatosis, type i 10.0
31 polyposis, gastric 10.0
32 brachydactyly, type a2 10.0 BMPR1A BMP2
33 pilomatrixoma 10.0 MUTYH BMP2
34 pulmonary hypertension 9.9 SMAD9 SMAD4 BMP2
35 hyperplastic polyposis syndrome 9.9 MUTYH APC
36 attenuated familial adenomatous polyposis 9.9 MUTYH APC
37 gastrointestinal system cancer 9.9 PTGS2 PTEN MUTYH
38 squamous cell carcinoma, head and neck 9.9 SMAD4 PTGS2 PTEN
39 renal cell carcinoma, nonpapillary 9.9
40 ovarian cancer 9.9
41 prostate cancer 9.9
42 retinoblastoma 9.9
43 arthritis 9.9
44 pemphigus foliaceus 9.9
45 atrial fibrillation 9.9
46 leukodystrophy 9.9
47 nephrotic syndrome 9.9
48 cholecystitis 9.9
49 papilloma 9.9
50 biliary dyskinesia 9.9

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



Diseases related to Juvenile Polyposis Syndrome

Symptoms & Phenotypes for Juvenile Polyposis Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Heme:
anemia

Limbs:
digital clubbing

Lab:
hypokalemia
hypoalbuminemia
pedunculated spherical smooth polyps contain numerous large cystic spaces filled with a grayish or yellowish mucus surrounded by copious reddish stroma

G I:
abdominal pain
diarrhea
rectal prolapse
intussusception
multiple gastrointestinal polyps
more
Oncology:
colon cancer (cancer not arising in polyps)


Clinical features from OMIM:

174900

Human phenotypes related to Juvenile Polyposis Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 frequent (33%) HP:0001508
2 hypokalemia 32 HP:0002900
3 anemia 32 frequent (33%) HP:0001903
4 abdominal pain 32 frequent (33%) HP:0002027
5 colon cancer 32 very rare (1%) HP:0003003
6 multiple gastric polyps 32 frequent (33%) HP:0004394
7 hematochezia 32 occasional (7.5%) HP:0002573
8 rectal prolapse 32 occasional (7.5%) HP:0002035
9 hypoalbuminemia 32 HP:0003073
10 clubbing 32 occasional (7.5%) HP:0001217
11 intussusception 32 occasional (7.5%) HP:0002576
12 duodenal adenocarcinoma 32 occasional (7.5%) HP:0006771

GenomeRNAi Phenotypes related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.46 APC BMPR1A PTEN STK11
2 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 PTEN SMAD4
3 Increased mitotic index GR00110-A-0 8.8 BMPR1A SMAD4 STK11

MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

46 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
2 cellular MP:0005384 10.21 APC BMP2 BMPR1A MUTYH PTEN PTGS2
3 embryo MP:0005380 10.19 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
4 growth/size/body region MP:0005378 10.18 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
5 behavior/neurological MP:0005386 10.17 APC BMPR1A PTEN PTGS2 SMAD4 SMAD9
6 homeostasis/metabolism MP:0005376 10.16 APC BMP2 BMPR1A MUTYH PTEN PTGS2
7 immune system MP:0005387 10.15 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
8 mortality/aging MP:0010768 10.15 APC BMP2 BMPR1A MUTYH PTEN PTGS2
9 hematopoietic system MP:0005397 10.11 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
10 nervous system MP:0003631 10.09 APC BMP2 BMPR1A MUTYH PTEN PTGS2
11 craniofacial MP:0005382 10.08 APC BMP2 BMPR1A SMAD4 SMAD9 STK11
12 digestive/alimentary MP:0005381 10.08 APC BMP2 PTEN PTGS2 SMAD4 STK11
13 endocrine/exocrine gland MP:0005379 10.06 APC BMPR1A PTEN PTGS2 SMAD4 STK11
14 neoplasm MP:0002006 10.06 APC BMPR1A MUTYH PTEN PTGS2 SMAD4
15 muscle MP:0005369 10.02 APC BMPR1A PTEN PTGS2 SMAD4 SMAD9
16 integument MP:0010771 10.01 APC BMPR1A PTEN PTGS2 SMAD4 STK11
17 limbs/digits/tail MP:0005371 10 APC BMP2 BMPR1A PTEN SMAD4 SMAD9
18 normal MP:0002873 9.97 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
19 liver/biliary system MP:0005370 9.91 APC PTEN PTGS2 SMAD4 STK11
20 reproductive system MP:0005389 9.86 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
21 no phenotypic analysis MP:0003012 9.8 APC BMPR1A PTGS2 SMAD9 STK11
22 renal/urinary system MP:0005367 9.72 APC PTEN PTGS2 SMAD4 STK11
23 respiratory system MP:0005388 9.55 BMPR1A PTEN PTGS2 SMAD9 STK11
24 skeleton MP:0005390 9.5 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
25 vision/eye MP:0005391 9.02 APC BMPR1A PTEN PTGS2 STK11

Drugs & Therapeutics for Juvenile Polyposis Syndrome

Drugs for Juvenile Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational 53608-75-6
2
Metformin Approved 657-24-9 14219 4091
3 Gastrointestinal Agents
4 Hormones
5 pancreatin
6 Cola

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
2 French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperplastic Polyposis Recruiting NCT01987518
3 Blood Markers of Early Pancreas Cancer Recruiting NCT03568630
4 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Juvenile Polyposis Syndrome

Genetic Tests for Juvenile Polyposis Syndrome

Genetic tests related to Juvenile Polyposis Syndrome:

# Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome 29 BMPR1A SMAD4
2 Juvenile Gastrointestinal Polyposis 29

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

41
Colon, Small Intestine, Brain, Heart, Pancreas, Smooth Muscle, Bone

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 70)
# Title Authors Year
1
Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing. ( 28600700 )
2018
2
Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report. ( 29634562 )
2018
3
Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation. ( 30521991 )
2018
4
Malignant tumors associated with juvenile polyposis syndrome in Japan. ( 28550623 )
2018
5
Multi-organ transplantation as a viable treatment option in Infantile Juvenile Polyposis Syndrome. ( 30134330 )
2018
6
The role of prophylactic gastrectomy in patients with juvenile polyposis syndrome. ( 30217482 )
2018
7
Absence of<i>SMAD9<sup>v90m</sup></i>mutation in juvenile polyposis syndrome. ( 28424237 )
2017
8
Corrigendum to &amp;quot;Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene&amp;quot;. ( 29576884 )
2017
9
Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. ( 28428902 )
2017
10
Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant. ( 27631205 )
2016
11
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
12
Massive Gastric Polyposis Associated with Juvenile Polyposis Syndrome. ( 27301526 )
2016
13
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. ( 25951773 )
2016
14
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1--Response to Letter to the Editor. ( 26040559 )
2016
15
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. ( 27375208 )
2016
16
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
17
Carcinosarcoma with Choriocarcinomatous and Osteosarcomatous Differentiation in a Patient with Juvenile Polyposis Syndrome. ( 26500724 )
2015
18
A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. ( 25705527 )
2015
19
Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance. ( 25846706 )
2015
20
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. ( 25931195 )
2015
21
Genotype-defined cancer risk in juvenile polyposis syndrome. ( 25389115 )
2014
22
Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome. ( 25129392 )
2014
23
A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. ( 25432397 )
2014
24
Juvenile polyposis syndrome. ( 25097590 )
2014
25
[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer]. ( 25354001 )
2014
26
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. ( 23239472 )
2013
27
Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? ( 23969542 )
2013
28
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. ( 22993021 )
2013
29
Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation. ( 26181832 )
2013
30
Giant stomach secondary to juvenile polyposis syndrome. ( 22005895 )
2012
31
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. ( 21572342 )
2012
32
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. ( 22810475 )
2012
33
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. ( 22617360 )
2012
34
The real face of juvenile polyposis syndrome. ( 23205314 )
2012
35
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. ( 22965402 )
2012
36
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. ( 22826269 )
2012
37
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? ( 22748914 )
2012
38
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. ( 21111415 )
2011
39
Juvenile polyposis syndrome. ( 22171123 )
2011
40
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. ( 22273206 )
2011
41
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. ( 21444082 )
2011
42
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. ( 21267778 )
2011
43
Video imaging of the gastrointestinal tract in a patient with juvenile polyposis syndrome. ( 21723226 )
2011
44
Juvenile polyposis syndrome. ( 21291112 )
2010
45
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. ( 20682711 )
2010
46
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. ( 20685751 )
2010
47
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. ( 19412013 )
2009
48
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. ( 19816839 )
2009
49
Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States. ( 19407664 )
2009
50
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. ( 19124115 )
2009

Variations for Juvenile Polyposis Syndrome

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

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 BMPR1A p.Cys124Arg VAR_015533 rs199476087
2 BMPR1A p.Ala338Asp VAR_015534 rs199476086
3 BMPR1A p.Cys376Tyr VAR_015535 rs199476088
4 BMPR1A p.Tyr62Asp VAR_022828
5 BMPR1A p.Cys82Tyr VAR_022829
6 BMPR1A p.Cys130Arg VAR_022830 rs113169116
7 BMPR1A p.Arg443Cys VAR_022831 rs35619497
8 BMPR1A p.Met470Thr VAR_022832 rs199476089
9 SMAD4 p.Gly352Arg VAR_019571 rs121912581
10 SMAD4 p.Arg361Cys VAR_019572 rs80338963
11 SMAD4 p.Glu330Gly VAR_022833 rs281875324

ClinVar genetic disease variations for Juvenile Polyposis Syndrome:

6 (show top 50) (show all 1874)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, 4-BP DEL, 44TGTT deletion Pathogenic
2 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 GRCh37 Chromosome 10, 88676930: 88676930
3 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 GRCh38 Chromosome 10, 86917173: 86917173
4 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 GRCh37 Chromosome 10, 88677027: 88677027
5 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 GRCh38 Chromosome 10, 86917270: 86917270
6 BMPR1A BMPR1A, 1-BP DEL, 961C deletion Pathogenic
7 BMPR1A NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp) single nucleotide variant Likely pathogenic rs199476086 GRCh37 Chromosome 10, 88679073: 88679073
8 BMPR1A NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp) single nucleotide variant Likely pathogenic rs199476086 GRCh38 Chromosome 10, 86919316: 86919316
9 BMPR1A NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg) single nucleotide variant Likely pathogenic rs199476087 GRCh37 Chromosome 10, 88659587: 88659587
10 BMPR1A NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg) single nucleotide variant Likely pathogenic rs199476087 GRCh38 Chromosome 10, 86899830: 86899830
11 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 GRCh37 Chromosome 10, 88679187: 88679187
12 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 GRCh38 Chromosome 10, 86919430: 86919430
13 BMPR1A NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr) single nucleotide variant Uncertain significance rs199476089 GRCh37 Chromosome 10, 88683199: 88683199
14 BMPR1A NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr) single nucleotide variant Uncertain significance rs199476089 GRCh38 Chromosome 10, 86923442: 86923442
15 SMAD4 SMAD4, 4-BP DEL, NT1372 deletion Pathogenic
16 SMAD4 SMAD4, 2-BP DEL deletion Pathogenic
17 SMAD4 SMAD4, 1-BP INS insertion Pathogenic
18 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
19 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh38 Chromosome 18, 51065548: 51065548
20 SMAD4 SMAD4, 2-BP DEL, 959AC deletion Pathogenic
21 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh37 Chromosome 18, 48593411: 48593411
22 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh38 Chromosome 18, 51067041: 51067041
23 SMAD4 NM_005359.5(SMAD4): c.905-52A> G single nucleotide variant Benign rs948589 GRCh38 Chromosome 18, 51059814: 51059814
24 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh38 Chromosome 18, 51013658: 51078467
25 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh37 Chromosome 18, 48540028: 48604837
26 SMAD4 NM_005359.5(SMAD4): c.905-32T= single nucleotide variant Benign GRCh37 Chromosome 18, 48586204: 48586204
27 SMAD4 NM_005359.5(SMAD4): c.905-32T= single nucleotide variant Benign GRCh38 Chromosome 18, 51059834: 51059834
28 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh37 Chromosome 18, 48575160: 48575160
29 SMAD4 NM_005359.5(SMAD4): c.354G> A (p.Ala118=) single nucleotide variant Benign/Likely benign rs145988618 GRCh38 Chromosome 18, 51048790: 51048790
30 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh37 Chromosome 18, 48575179: 48575180
31 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh38 Chromosome 18, 51048809: 51048810
32 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh37 Chromosome 18, 48575181: 48575187
33 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh38 Chromosome 18, 51048811: 51048817
34 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh37 Chromosome 18, 48575209: 48575209
35 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh38 Chromosome 18, 51048839: 51048839
36 SMAD4 NM_005359.5(SMAD4): c.425-6A> G single nucleotide variant Uncertain significance rs377767327 GRCh37 Chromosome 18, 48575659: 48575659
37 SMAD4 NM_005359.5(SMAD4): c.425-6A> G single nucleotide variant Uncertain significance rs377767327 GRCh38 Chromosome 18, 51049289: 51049289
38 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh37 Chromosome 18, 48575670: 48575671
39 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh38 Chromosome 18, 51049300: 51049301
40 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh37 Chromosome 18, 48575677: 48575677
41 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh38 Chromosome 18, 51049307: 51049307
42 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh37 Chromosome 18, 48581212: 48581223
43 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh38 Chromosome 18, 51054842: 51054853
44 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh37 Chromosome 18, 48581229: 48581229
45 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh38 Chromosome 18, 51054859: 51054859
46 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh37 Chromosome 18, 48581234: 48581234
47 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh38 Chromosome 18, 51054864: 51054864
48 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh37 Chromosome 18, 48581304: 48581304
49 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh38 Chromosome 18, 51054934: 51054934
50 SMAD4 NM_005359.5(SMAD4): c.668-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584495: 48604837

Cosmic variations for Juvenile Polyposis Syndrome:

9 (show top 50) (show all 94)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM18713 APC large intestine,colon,other,juvenile polyp c.199G>C p.D67H 5:112766389-112766389 9
2 COSM18714 APC large intestine,colon,other,juvenile polyp c.1139G>C p.R380P 5:112819171-112819171 9
3 COSM18711 APC large intestine,colon,other,juvenile polyp c.158G>T p.G53V 5:112766348-112766348 9
4 COSM18717 APC large intestine,colon,other,juvenile polyp c.1449T>C p.C483C 5:112827148-112827148 9
5 COSM18712 APC large intestine,colon,other,juvenile polyp c.196A>C p.I66L 5:112766386-112766386 9
6 COSM44603 TP53 large intestine,colon,other,hamartoma c.835G>A p.G279R 17:7673785-7673785 7
7 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 6
8 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 6
9 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 6
10 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 6
11 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 6
12 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 6
13 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 6
14 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 6
15 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 6
16 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 6
17 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 6
18 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 6
19 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 6
20 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 6
21 COSM27887 GNAS large intestine,colon,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 6
22 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 6
23 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 6
24 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 6
25 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 6
26 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 6
27 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 6
28 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 6
29 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 6
30 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 6
31 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 6
32 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 6
33 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 6
34 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 6
35 COSM21493 BRAF large intestine,colon,adenoma,NS c.1766C>T p.T589I 7:140753369-140753369 6
36 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
37 COSM21492 BRAF large intestine,colon,adenoma,NS c.1357C>A p.P453T 7:140781651-140781651 6
38 COSM467 BRAF large intestine,colon,adenoma,NS c.1781A>G p.D594G 7:140753354-140753354 6
39 COSM18942 APC large intestine,colon,adenoma,NS c.3928A>T p.K1310* 5:112839522-112839522 6
40 COSM18852 APC large intestine,colon,adenoma,NS c.2626C>T p.R876* 5:112838220-112838220 6
41 COSM13127 APC large intestine,colon,adenoma,NS c.4348C>T p.R1450* 5:112839942-112839942 6
42 COSM30779 APC large intestine,colon,adenoma,NS c.4381G>T p.E1461* 5:112839975-112839975 6
43 COSM18738 APC large intestine,colon,adenoma,NS c.4495G>A p.G1499R 5:112840089-112840089 6
44 COSM18836 APC large intestine,colon,adenoma,NS c.4285C>T p.Q1429* 5:112839879-112839879 6
45 COSM18775 APC large intestine,colon,adenoma,NS c.3925G>T p.E1309* 5:112839519-112839519 6
46 COSM13130 APC large intestine,colon,adenoma,NS c.694C>T p.R232* 5:112792494-112792494 6
47 COSM19087 APC large intestine,colon,adenoma,NS c.4216C>T p.Q1406* 5:112839810-112839810 6
48 COSM19135 APC large intestine,colon,adenoma,NS c.4031C>A p.S1344* 5:112839625-112839625 6
49 COSM18822 APC large intestine,colon,adenoma,NS c.4222G>T p.E1408* 5:112839816-112839816 6
50 COSM19099 APC large intestine,colon,adenoma,NS c.3949G>C p.E1317Q 5:112839543-112839543 6

Expression for Juvenile Polyposis Syndrome

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

Pathways for Juvenile Polyposis Syndrome

Pathways related to Juvenile Polyposis Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 TGF-beta signaling pathway hsa04350
3 Cell cycle hsa04110
4 Wnt signaling pathway hsa04310
5 Adherens junction hsa04520
6 Pathways in cancer hsa05200
7 Colorectal cancer hsa05210

Pathways related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
2
Show member pathways
12.75 APC PTEN PTGS2 STK11
3 12.58 APC BMP2 PTEN PTGS2 SMAD4
4
Show member pathways
12.3 APC BMPR1A SMAD4
5 12.28 APC PTEN PTGS2
6
Show member pathways
12.27 APC PTEN STK11
7
Show member pathways
12.26 BMP2 BMPR1A SMAD4 SMAD9
8
Show member pathways
12.1 APC BMP2 BMPR1A SMAD4 SMAD9
9 12.02 APC SMAD4 SMAD9
10 11.96 APC PTGS2 SMAD4
11 11.89 APC BMP2 BMPR1A SMAD4
12
Show member pathways
11.87 PTEN SMAD4 STK11
13 11.86 BMPR1A PTEN SMAD4 STK11
14 11.77 APC PTEN SMAD4
15 11.77 APC BMPR1A SMAD4 SMAD9
16 11.71 BMP2 PTEN SMAD4
17 11.38 APC PTEN
18 11.38 BMP2 BMPR1A SMAD4 SMAD9
19 11.35 PTGS2 SMAD4
20 11.32 BMP2 BMPR1A SMAD4
21 11.25 SMAD4 STK11
22 11.19 APC PTEN
23
Show member pathways
11.11 BMP2 BMPR1A SMAD4 SMAD9
24 11.08 APC SMAD4
25
Show member pathways
11.03 SMAD4 SMAD9
26 10.99 BMP2 SMAD9
27 10.92 PTEN SMAD4
28 10.66 BMP2 SMAD9
29 10.57 SMAD4 SMAD9
30 10.27 BMP2 BMPR1A SMAD4 SMAD9

GO Terms for Juvenile Polyposis Syndrome

Cellular components related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD protein complex GO:0071141 8.62 SMAD4 SMAD9

Biological processes related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.77 APC PTEN SMAD4
2 heart development GO:0007507 9.76 BMP2 BMPR1A PTEN
3 positive regulation of apoptotic process GO:0043065 9.71 APC BMP2 PTEN PTGS2
4 in utero embryonic development GO:0001701 9.69 BMP2 BMPR1A SMAD4
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.65 APC BMP2 STK11
6 positive regulation of cell death GO:0010942 9.63 APC PTGS2
7 negative regulation of cell cycle GO:0045786 9.62 BMP2 PTGS2
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 BMP2 SMAD4
9 branching involved in ureteric bud morphogenesis GO:0001658 9.61 BMP2 SMAD4
10 bone mineralization GO:0030282 9.61 BMP2 PTGS2
11 transforming growth factor beta receptor signaling pathway GO:0007179 9.61 BMPR1A SMAD4 SMAD9
12 chondrocyte differentiation GO:0002062 9.6 BMP2 BMPR1A
13 positive regulation of bone mineralization GO:0030501 9.58 BMP2 BMPR1A
14 endoderm development GO:0007492 9.57 BMPR1A SMAD4
15 developmental growth GO:0048589 9.56 BMPR1A SMAD4
16 BMP signaling pathway GO:0030509 9.56 BMP2 BMPR1A SMAD4 SMAD9
17 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.55 SMAD4 STK11
18 outflow tract septum morphogenesis GO:0003148 9.54 BMPR1A SMAD4
19 SMAD protein signal transduction GO:0060395 9.54 BMP2 SMAD4 SMAD9
20 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.52 BMP2 BMPR1A
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.5 BMP2 BMPR1A SMAD4
22 endocardial cushion morphogenesis GO:0003203 9.49 BMP2 BMPR1A
23 positive regulation of SMAD protein signal transduction GO:0060391 9.46 BMPR1A SMAD4
24 negative regulation of cell proliferation GO:0008285 9.43 APC BMP2 PTEN PTGS2 SMAD4 STK11
25 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.33 BMP2 SMAD4 SMAD9
26 cellular response to BMP stimulus GO:0071773 8.92 BMP2 BMPR1A SMAD4 SMAD9

Molecular functions related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.28 APC BMP2 BMPR1A MUTYH PTEN PTGS2

Sources for Juvenile Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....