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 58 12 25 54 26 60 76 38 30 56 6 15 74
Juvenile Intestinal Polyposis 58 54 26 60 76
Jps 58 54 26 60 76
Jip 58 54 26 60 76
Juvenile Gastrointestinal Polyposis 60 30 74
Juvenile Polyposis Syndrome, Infantile Form 58 13
Pji 58 54
Polyposis, Familial, of Entire Gastrointestinal Tract 58
Polyposis Familial of Entire Gastrointestinal Tract 54
Polyposis, Juvenile Intestinal; Pji 58
Juvenile Intestinal Polyposis; Jip 58
Polyposis, Juvenile Intestinal 58
Polyposis Juvenile Intestinal 54
Polyposis Syndrome, Juvenile 41
Juvenile Polyposis 6

Characteristics:

Orphanet epidemiological data:

60
juvenile polyposis syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
juvenile polyposis syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 : 54 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 chromosome 10q23 deletion syndrome. 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 Metformin and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and pancreas, and related phenotypes are failure to thrive and anemia

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 : 26 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 : 58 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 : 76 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 : 77 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 109)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis of infancy 32.1 PTEN BMPR1A
2 chromosome 10q23 deletion syndrome 30.2 PTEN BMPR1A
3 polyposis, skin pigmentation, alopecia, and fingernail changes 30.1 PTEN BMPR1A
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 29.7 STK11 PTEN
5 cowden syndrome 1 29.7 PTEN MUTYH BMPR1A
6 peutz-jeghers syndrome 29.0 STK11 SMAD4 PTEN APC
7 gastric cancer 28.8 SMAD4 PTGS2 PTEN MUTYH APC
8 adenocarcinoma 28.5 STK11 SMAD4 PTGS2 PTEN APC
9 colorectal cancer 28.0 STK11 SMAD4 PTGS2 PTEN MUTYH APC
10 breast cancer 27.9 STK11 SMAD4 PTGS2 PTEN BMPR1A APC
11 generalized juvenile polyposis/juvenile polyposis coli 12.3
12 prosthetic joint infection 12.0
13 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.2
14 telangiectasia, hereditary hemorrhagic, type 4 11.2
15 chromosome 10q22.3-q23.2 deletion syndrome 11.2
16 periodontitis, aggressive, 1 11.1
17 parkinson disease 2, autosomal recessive juvenile 11.1
18 familial colorectal cancer type x 10.3 SMAD4 BMPR1A
19 hereditary hemorrhagic telangiectasia 10.2
20 hypoglycemia 10.2
21 nasopharyngeal carcinoma 10.2
22 hereditary mixed polyposis syndrome 10.1 PTGS2 BMPR1A
23 esophagus adenocarcinoma 10.1 SMAD4 PTGS2
24 venous malformations, multiple cutaneous and mucosal 10.1 SMAD4 PTEN
25 gastrointestinal carcinoma 10.0
26 spondylolisthesis 10.0 PTGS2 BMP2
27 bowenoid papulosis 10.0
28 neurofibromatosis, type i 10.0
29 neurofibromatosis, type iv, of riccardi 10.0
30 polyposis, gastric 10.0
31 cowden syndrome 10.0
32 brachydactyly, type a2 9.9 BMPR1A BMP2
33 pilomatrixoma 9.9 MUTYH BMP2
34 cholangiocarcinoma 9.9 SMAD4 PTGS2 PTEN
35 aortic valve disease 1 9.9
36 cleft palate, isolated 9.9
37 renal cell carcinoma, nonpapillary 9.9
38 ovarian cancer 9.9
39 prostate cancer 9.9
40 retinoblastoma 9.9
41 small cell cancer of the lung 9.9
42 lung cancer 9.9
43 prostate cancer, hereditary, 8 9.9
44 prostate cancer, hereditary, 6 9.9
45 arthritis 9.9
46 pemphigus foliaceus 9.9
47 lymphoma 9.9
48 atrial fibrillation 9.9
49 leukodystrophy 9.9
50 arteriovenous malformation 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

Human phenotypes related to Juvenile Polyposis Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

47 (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 renal/urinary system MP:0005367 9.72 APC PTEN PTGS2 SMAD4 STK11
22 no phenotypic analysis MP:0003012 9.71 BMPR1A PTGS2 SMAD9 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
Metformin Approved 657-24-9 14219 4091
2
Pancrelipase Approved, Investigational 53608-75-6
3 Cola
4 Hormones
5 Gastrointestinal Agents
6 pancreatin

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 30 BMPR1A SMAD4
2 Juvenile Gastrointestinal Polyposis 30

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

42
Colon, Small Intestine, Pancreas, Brain, Heart, Smooth Muscle, Bone

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 72)
# Title Authors Year
1
Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome. ( 30873576 )
2019
2
Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. ( 30585890 )
2019
3
Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing. ( 28600700 )
2018
4
Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report. ( 29634562 )
2018
5
Malignant tumors associated with juvenile polyposis syndrome in Japan. ( 28550623 )
2018
6
Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation. ( 30521991 )
2018
7
Multi-organ transplantation as a viable treatment option in Infantile Juvenile Polyposis Syndrome. ( 30134330 )
2018
8
The role of prophylactic gastrectomy in patients with juvenile polyposis syndrome. ( 30217482 )
2018
9
Absence of<i>SMAD9<sup>v90m</sup></i>mutation in juvenile polyposis syndrome. ( 28424237 )
2017
10
Corrigendum to &amp;quot;Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene&amp;quot;. ( 29576884 )
2017
11
Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. ( 28428902 )
2017
12
Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant. ( 27631205 )
2016
13
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
14
Massive Gastric Polyposis Associated with Juvenile Polyposis Syndrome. ( 27301526 )
2016
15
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. ( 25951773 )
2016
16
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1--Response to Letter to the Editor. ( 26040559 )
2016
17
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. ( 27375208 )
2016
18
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
19
Carcinosarcoma with Choriocarcinomatous and Osteosarcomatous Differentiation in a Patient with Juvenile Polyposis Syndrome. ( 26500724 )
2015
20
A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. ( 25705527 )
2015
21
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
22
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. ( 25931195 )
2015
23
Genotype-defined cancer risk in juvenile polyposis syndrome. ( 25389115 )
2014
24
Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome. ( 25129392 )
2014
25
A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. ( 25432397 )
2014
26
Juvenile polyposis syndrome. ( 25097590 )
2014
27
[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer]. ( 25354001 )
2014
28
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. ( 23239472 )
2013
29
Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? ( 23969542 )
2013
30
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. ( 22993021 )
2013
31
Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation. ( 26181832 )
2013
32
Giant stomach secondary to juvenile polyposis syndrome. ( 22005895 )
2012
33
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. ( 21572342 )
2012
34
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. ( 22810475 )
2012
35
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. ( 22617360 )
2012
36
The real face of juvenile polyposis syndrome. ( 23205314 )
2012
37
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. ( 22965402 )
2012
38
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. ( 22826269 )
2012
39
A unifying working hypothesis for juvenile polyposis syndrome and MAcnActrier's disease: specific localization or concomitant occurrence of a separate entity? ( 22748914 )
2012
40
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. ( 21111415 )
2011
41
Juvenile polyposis syndrome. ( 22171123 )
2011
42
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. ( 22273206 )
2011
43
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. ( 21444082 )
2011
44
Video imaging of the gastrointestinal tract in a patient with juvenile polyposis syndrome. ( 21723226 )
2011
45
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. ( 21267778 )
2011
46
Juvenile polyposis syndrome. ( 21291112 )
2010
47
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. ( 20682711 )
2010
48
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. ( 20685751 )
2010
49
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. ( 19412013 )
2009
50
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. ( 19816839 )
2009

Variations for Juvenile Polyposis Syndrome

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

76 (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 1877)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh37 Chromosome 9, 130578230: 130578230
2 ENG NM_000118.3(ENG): c.1844C> T (p.Ser615Leu) single nucleotide variant Benign/Likely benign rs148002300 GRCh38 Chromosome 9, 127815951: 127815951
3 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh37 Chromosome 9, 130580575: 130580575
4 ENG NM_000118.3(ENG): c.1510G> A (p.Val504Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116330805 GRCh38 Chromosome 9, 127818296: 127818296
5 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh37 Chromosome 9, 130586621: 130586621
6 ENG NM_000118.3(ENG): c.1096G> C (p.Asp366His) single nucleotide variant Benign/Likely benign rs1800956 GRCh38 Chromosome 9, 127824342: 127824342
7 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh38 Chromosome 9, 127854342: 127854342
8 ENG NM_000118.3(ENG): c.14C> T (p.Thr5Met) single nucleotide variant Benign/Likely benign rs35400405 GRCh37 Chromosome 9, 130616621: 130616621
9 BMPR1A NM_004329.2(BMPR1A): c.5C> T (p.Pro2Leu) single nucleotide variant Uncertain significance rs143248687 GRCh38 Chromosome 10, 86876023: 86876023
10 BMPR1A NM_004329.2(BMPR1A): c.5C> T (p.Pro2Leu) single nucleotide variant Uncertain significance rs143248687 GRCh37 Chromosome 10, 88635780: 88635780
11 BMPR1A NM_004329.2(BMPR1A): c.911A> G (p.Gln304Arg) single nucleotide variant Uncertain significance rs730881434 GRCh38 Chromosome 10, 86919214: 86919214
12 BMPR1A NM_004329.2(BMPR1A): c.911A> G (p.Gln304Arg) single nucleotide variant Uncertain significance rs730881434 GRCh37 Chromosome 10, 88678971: 88678971
13 BMPR1A NM_004329.2(BMPR1A): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs730881435 GRCh38 Chromosome 10, 86919246: 86919246
14 BMPR1A NM_004329.2(BMPR1A): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs730881435 GRCh37 Chromosome 10, 88679003: 88679003
15 BMPR1A NM_004329.2(BMPR1A): c.1082G> A (p.Arg361Gln) single nucleotide variant Uncertain significance rs730881436 GRCh38 Chromosome 10, 86919385: 86919385
16 BMPR1A NM_004329.2(BMPR1A): c.1082G> A (p.Arg361Gln) single nucleotide variant Uncertain significance rs730881436 GRCh37 Chromosome 10, 88679142: 88679142
17 SMAD4 NM_005359.5(SMAD4): c.607C> G (p.Pro203Ala) single nucleotide variant Uncertain significance rs199809905 GRCh38 Chromosome 18, 51054933: 51054933
18 SMAD4 NM_005359.5(SMAD4): c.607C> G (p.Pro203Ala) single nucleotide variant Uncertain significance rs199809905 GRCh37 Chromosome 18, 48581303: 48581303
19 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh38 Chromosome 18, 51058134: 51058134
20 SMAD4 NM_005359.5(SMAD4): c.677C> T (p.Ala226Val) single nucleotide variant Conflicting interpretations of pathogenicity rs539739051 GRCh37 Chromosome 18, 48584504: 48584504
21 SMAD4 NM_005359.5(SMAD4): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs730881953 GRCh38 Chromosome 18, 51059878: 51059878
22 SMAD4 NM_005359.5(SMAD4): c.917A> G (p.Asn306Ser) single nucleotide variant Uncertain significance rs730881953 GRCh37 Chromosome 18, 48586248: 48586248
23 SMAD4 NM_005359.5(SMAD4): c.1634T> A (p.Ile545Asn) single nucleotide variant Uncertain significance rs730881955 GRCh38 Chromosome 18, 51078442: 51078442
24 SMAD4 NM_005359.5(SMAD4): c.1634T> A (p.Ile545Asn) single nucleotide variant Uncertain significance rs730881955 GRCh37 Chromosome 18, 48604812: 48604812
25 BMPR1A NM_004329.2(BMPR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs786203157 GRCh37 Chromosome 10, 88635776: 88635776
26 BMPR1A NM_004329.2(BMPR1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs786203157 GRCh38 Chromosome 10, 86876019: 86876019
27 BMPR1A NM_004329.2(BMPR1A): c.30A> G (p.Leu10=) single nucleotide variant Likely benign rs754752449 GRCh37 Chromosome 10, 88635805: 88635805
28 BMPR1A NM_004329.2(BMPR1A): c.30A> G (p.Leu10=) single nucleotide variant Likely benign rs754752449 GRCh38 Chromosome 10, 86876048: 86876048
29 BMPR1A NM_004329.2(BMPR1A): c.124A> G (p.Lys42Glu) single nucleotide variant Uncertain significance rs786203156 GRCh37 Chromosome 10, 88649875: 88649875
30 BMPR1A NM_004329.2(BMPR1A): c.124A> G (p.Lys42Glu) single nucleotide variant Uncertain significance rs786203156 GRCh38 Chromosome 10, 86890118: 86890118
31 BMPR1A NM_004329.2(BMPR1A): c.140G> A (p.Gly47Glu) single nucleotide variant Uncertain significance rs368595543 GRCh37 Chromosome 10, 88649891: 88649891
32 BMPR1A NM_004329.2(BMPR1A): c.140G> A (p.Gly47Glu) single nucleotide variant Uncertain significance rs368595543 GRCh38 Chromosome 10, 86890134: 86890134
33 BMPR1A NM_004329.2(BMPR1A): c.176delT (p.Leu59Terfs) deletion Pathogenic rs786201038 GRCh38 Chromosome 10, 86890170: 86890170
34 BMPR1A NM_004329.2(BMPR1A): c.176delT (p.Leu59Terfs) deletion Pathogenic rs786201038 GRCh37 Chromosome 10, 88649927: 88649927
35 BMPR1A NM_004329.2(BMPR1A): c.383A> G (p.Asn128Ser) single nucleotide variant Uncertain significance rs375165807 GRCh37 Chromosome 10, 88659600: 88659600
36 BMPR1A NM_004329.2(BMPR1A): c.383A> G (p.Asn128Ser) single nucleotide variant Uncertain significance rs375165807 GRCh38 Chromosome 10, 86899843: 86899843
37 BMPR1A NM_004329.2(BMPR1A): c.435G> A (p.Pro145=) single nucleotide variant Benign rs11818239 GRCh38 Chromosome 10, 86900031: 86900031
38 BMPR1A NM_004329.2(BMPR1A): c.435G> A (p.Pro145=) single nucleotide variant Benign rs11818239 GRCh37 Chromosome 10, 88659788: 88659788
39 BMPR1A NM_004329.2(BMPR1A): c.510C> T (p.Phe170=) single nucleotide variant Likely benign rs747266339 GRCh38 Chromosome 10, 86900106: 86900106
40 BMPR1A NM_004329.2(BMPR1A): c.510C> T (p.Phe170=) single nucleotide variant Likely benign rs747266339 GRCh37 Chromosome 10, 88659863: 88659863
41 BMPR1A NM_004329.2(BMPR1A): c.524G> A (p.Cys175Tyr) single nucleotide variant Uncertain significance rs370091063 GRCh37 Chromosome 10, 88659877: 88659877
42 BMPR1A NM_004329.2(BMPR1A): c.524G> A (p.Cys175Tyr) single nucleotide variant Uncertain significance rs370091063 GRCh38 Chromosome 10, 86900120: 86900120
43 BMPR1A NM_004329.2(BMPR1A): c.682C> A (p.Arg228=) single nucleotide variant Benign/Likely benign rs587782682 GRCh38 Chromosome 10, 86917140: 86917140
44 BMPR1A NM_004329.2(BMPR1A): c.682C> A (p.Arg228=) single nucleotide variant Benign/Likely benign rs587782682 GRCh37 Chromosome 10, 88676897: 88676897
45 BMPR1A NM_004329.2(BMPR1A): c.765C> T (p.Gly255=) single nucleotide variant Likely benign rs786201114 GRCh38 Chromosome 10, 86917223: 86917223
46 BMPR1A NM_004329.2(BMPR1A): c.765C> T (p.Gly255=) single nucleotide variant Likely benign rs786201114 GRCh37 Chromosome 10, 88676980: 88676980
47 BMPR1A NM_004329.2(BMPR1A): c.961C> T (p.Leu321=) single nucleotide variant Benign/Likely benign rs377412651 GRCh37 Chromosome 10, 88679021: 88679021
48 BMPR1A NM_004329.2(BMPR1A): c.961C> T (p.Leu321=) single nucleotide variant Benign/Likely benign rs377412651 GRCh38 Chromosome 10, 86919264: 86919264
49 BMPR1A NM_004329.2(BMPR1A): c.993G> A (p.Leu331=) single nucleotide variant Likely benign rs786202827 GRCh37 Chromosome 10, 88679053: 88679053
50 BMPR1A NM_004329.2(BMPR1A): c.993G> A (p.Leu331=) single nucleotide variant Likely benign rs786202827 GRCh38 Chromosome 10, 86919296: 86919296

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 COSM6932 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 0
2 COSM45138 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 0
3 COSM45076 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 0
4 COSM43606 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 0
5 COSM10870 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 0
6 COSM44603 TP53 large intestine,colon,other,hamartoma c.835G>A p.G279R 17:7673785-7673785 0
7 COSM43687 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 0
8 COSM10648 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 0
9 COSM10957 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 0
10 COSM43535 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 0
11 COSM10663 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 0
12 COSM21355 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 0
13 COSM21354 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 0
14 COSM14240 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 0
15 COSM14241 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 0
16 COSM14122 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 0
17 COSM5985099 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 0
18 COSM569 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 0
19 COSM584 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
20 COSM6503131 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 0
21 COSM532 KRAS large intestine,rectum,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 0
22 COSM520 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 0
23 COSM521 KRAS large intestine,rectum,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 0
24 COSM522 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 0
25 COSM516 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 0
26 COSM517 KRAS large intestine,colon,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 0
27 COSM555 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 0
28 COSM518 KRAS large intestine,colon,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 0
29 COSM553 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 0
30 COSM554 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 0
31 COSM27887 GNAS large intestine,colon,adenoma,NS c.601C>T p.R201C 20:58909365-58909365 0
32 COSM27895 GNAS large intestine,rectum,adenoma,NS c.602G>A p.R201H 20:58909366-58909366 0
33 COSM27058 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 0
34 COSM22932 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 0
35 COSM22975 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 0
36 COSM22971 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 0
37 COSM30597 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 0
38 COSM22965 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 0
39 COSM25812 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 0
40 COSM30598 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 0
41 COSM21689 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 0
42 COSM5667 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 0
43 COSM5687 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 0
44 COSM5671 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 0
45 COSM5664 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 0
46 COSM4675394 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 0
47 COSM5674 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 0
48 COSM5663 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 0
49 COSM5682 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 0
50 COSM476 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 0

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:

38
# 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 11.41 BMP2 BMPR1A SMAD4 SMAD9
18 11.38 APC PTEN
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

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