MCID: JVN014
MIFTS: 59

Juvenile Polyposis Syndrome

Categories: Genetic diseases, Rare diseases, Gastrointestinal 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
Generalized Juvenile Polyposis/juvenile Polyposis Coli 59
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;
generalized juvenile polyposis/juvenile polyposis coli
Inheritance: Autosomal dominant; Age of onset: All ages;

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 chromosome 10q22.3-q23.2 deletion syndrome and bannayan-riley-ruvalcaba 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. Affiliated tissues include colon, small intestine and pancreas, and related phenotypes are clubbing and failure to thrive

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 disease (158350) and in Bannayan-Zonana syndrome (153480). 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.

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.

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.

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 chromosome 10q22.3-q23.2 deletion syndrome 32.6 BMPR1A PTEN
2 bannayan-riley-ruvalcaba syndrome 30.6 BMPR1A PTEN
3 chromosome 10q23 deletion syndrome 30.6 BMPR1A PTEN
4 polyposis, skin pigmentation, alopecia, and fingernail changes 30.4 BMPR1A PTEN
5 cowden disease 29.7 BMPR1A PTEN SMAD4 STK11
6 peutz-jeghers syndrome 29.2 APC PTEN SMAD4 STK11
7 adenocarcinoma 28.6 APC PTEN PTGS2 SMAD4 STK11
8 gastric cancer 27.7 APC MUTYH PTEN SMAD4
9 colorectal cancer 26.7 APC ENG MUTYH PTEN PTGS2 SMAD4
10 prosthetic joint infection 11.9
11 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.0
12 familial colorectal cancer type x 10.7 BMPR1A SMAD4
13 hereditary mixed polyposis syndrome 10.6 BMPR1A PTGS2
14 spondylolisthesis 10.4 BMP2 PTGS2
15 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 PTEN STK11
16 brachydactyly, type a2 10.3 BMP2 BMPR1A
17 intussusception 10.2 ENG STK11
18 fibrochondrogenesis 10.2 BMP2 ENG
19 heritable pulmonary arterial hypertension 10.2 ENG SMAD9
20 chronic leukemia 10.2 PTEN PTGS2
21 hyperplastic polyposis syndrome 10.2 APC MUTYH
22 attenuated familial adenomatous polyposis 10.1 APC MUTYH
23 skin melanoma 10.1 PTEN PTGS2 STK11
24 hereditary hemorrhagic telangiectasia 10.0
25 telangiectasis 10.0 ENG SMAD4
26 mutyh-associated polyposis 9.9 APC MUTYH SMAD4
27 adamantinoma of long bones 9.9 APC PTEN PTGS2
28 neurofibromatosis, type i 9.9
29 neurofibromatosis, type iv, of riccardi 9.9
30 polyposis, gastric 9.9
31 ruvalcaba syndrome 9.9
32 esophagitis 9.9
33 polyposis syndrome, hereditary mixed, 1 9.9 APC MUTYH PTGS2
34 intestinal benign neoplasm 9.8 APC MUTYH PTGS2
35 cervical cancer 9.8 PTEN PTGS2 SMAD4 STK11
36 colorectal adenoma 9.8 APC MUTYH PTGS2
37 squamous cell carcinoma 9.8 PTEN PTGS2 SMAD4 STK11
38 familial adenomatous polyposis 9.8 APC MUTYH PTGS2
39 gastric adenocarcinoma 9.7 APC PTEN PTGS2 SMAD4
40 esophagitis, eosinophilic, 1 9.7
41 protein-losing enteropathy 9.7
42 patent foramen ovale 9.7
43 lynch syndrome 9.7
44 aortic disease 9.7
45 achalasia 9.7
46 type i 9.7
47 aneurysm 9.7
48 atrial septal aneurysm 9.7
49 gastrointestinal system cancer 9.7 MUTYH PTEN PTGS2 SMAD4
50 lung cancer susceptibility 3 9.7 APC PTGS2 SMAD4 STK11

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

GI:
abdominal pain
diarrhea
rectal prolapse
intussusception
rectal bleeding
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 clubbing 32 occasional (7.5%) HP:0001217
2 failure to thrive 32 frequent (33%) HP:0001508
3 anemia 32 frequent (33%) HP:0001903
4 abdominal pain 32 frequent (33%) HP:0002027
5 rectal prolapse 32 occasional (7.5%) HP:0002035
6 hematochezia 32 occasional (7.5%) HP:0002573
7 intussusception 32 occasional (7.5%) HP:0002576
8 hypokalemia 32 HP:0002900
9 colon cancer 32 very rare (1%) HP:0003003
10 hypoalbuminemia 32 HP:0003073
11 multiple gastric polyps 32 frequent (33%) HP:0004394
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 9.55 APC BMPR1A MINPP1 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 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 JPH1 PTGS2 PTEN ENG STK11 SMAD9
2 cardiovascular system MP:0005385 10.24 PTGS2 PTEN ENG STK11 SMAD9 SMAD4
3 embryo MP:0005380 10.2 PTGS2 PTEN SMAD9 SMAD4 STK11 BMP2
4 growth/size/body region MP:0005378 10.19 PTGS2 PTEN ENG SMAD4 STK11 SMAD9
5 cellular MP:0005384 10.18 MUTYH PTEN SMAD4 STK11 PTGS2 APC
6 mortality/aging MP:0010768 10.17 JPH1 PTGS2 MUTYH PTEN ENG STK11
7 homeostasis/metabolism MP:0005376 10.16 MUTYH PTGS2 PTEN ENG SMAD4 STK11
8 hematopoietic system MP:0005397 10.13 PTGS2 PTEN ENG SMAD4 STK11 APC
9 craniofacial MP:0005382 10.11 ENG STK11 SMAD9 SMAD4 BMPR1A BMP2
10 digestive/alimentary MP:0005381 10.1 PTGS2 PTEN ENG STK11 SMAD4 BMP2
11 immune system MP:0005387 10.1 PTGS2 PTEN SMAD4 STK11 SMAD9 APC
12 muscle MP:0005369 10.06 JPH1 PTGS2 PTEN SMAD9 SMAD4 STK11
13 integument MP:0010771 10.02 PTGS2 PTEN ENG SMAD4 STK11 APC
14 nervous system MP:0003631 10.02 PTGS2 MUTYH PTEN ENG SMAD9 SMAD4
15 neoplasm MP:0002006 9.97 PTGS2 MUTYH PTEN SMAD9 SMAD4 STK11
16 normal MP:0002873 9.96 PTGS2 MINPP1 PTEN SMAD9 SMAD4 STK11
17 limbs/digits/tail MP:0005371 9.93 PTEN SMAD4 SMAD9 APC BMPR1A BMP2
18 reproductive system MP:0005389 9.76 PTGS2 PTEN STK11 SMAD9 SMAD4 BMPR1A
19 respiratory system MP:0005388 9.43 PTGS2 PTEN ENG STK11 SMAD9 BMPR1A
20 skeleton MP:0005390 9.17 PTGS2 PTEN SMAD4 SMAD9 APC BMPR1A

Drugs & Therapeutics for Juvenile Polyposis Syndrome

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 Hyperpl Recruiting NCT01987518
3 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
4 Blood Markers of Early Pancreas Cancer Not yet recruiting NCT03568630

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, Pancreas, Smooth Muscle, Brain, Heart, Testes

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 68)
# 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
Malignant tumors associated with juvenile polyposis syndrome in Japan. ( 28550623 )
2018
4
Absence of<i>SMAD9<sup>v90m</sup></i>mutation in juvenile polyposis syndrome. ( 28424237 )
2017
5
Corrigendum to &amp;quot;Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene&amp;quot;. ( 29576884 )
2017
6
Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. ( 28428902 )
2017
7
Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant. ( 27631205 )
2016
8
Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )
2016
9
Massive Gastric Polyposis Associated with Juvenile Polyposis Syndrome. ( 27301526 )
2016
10
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. ( 25951773 )
2016
11
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1--Response to Letter to the Editor. ( 26040559 )
2016
12
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. ( 27375208 )
2016
13
Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )
2016
14
Carcinosarcoma with Choriocarcinomatous and Osteosarcomatous Differentiation in a Patient with Juvenile Polyposis Syndrome. ( 26500724 )
2015
15
A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. ( 25705527 )
2015
16
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
17
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. ( 25931195 )
2015
18
Genotype-defined cancer risk in juvenile polyposis syndrome. ( 25389115 )
2014
19
Identification of Coding Exon 3 Duplication in the BMPR1A Gene in a Patient with Juvenile Polyposis Syndrome. ( 25129392 )
2014
20
A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. ( 25432397 )
2014
21
Juvenile polyposis syndrome. ( 25097590 )
2014
22
[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer]. ( 25354001 )
2014
23
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. ( 23239472 )
2013
24
Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? ( 23969542 )
2013
25
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. ( 22993021 )
2013
26
Giant stomach secondary to juvenile polyposis syndrome. ( 22005895 )
2012
27
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. ( 21572342 )
2012
28
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. ( 22810475 )
2012
29
Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. ( 22617360 )
2012
30
The real face of juvenile polyposis syndrome. ( 23205314 )
2012
31
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. ( 22965402 )
2012
32
Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. ( 22826269 )
2012
33
A unifying working hypothesis for juvenile polyposis syndrome and MAcnActrier's disease: specific localization or concomitant occurrence of a separate entity? ( 22748914 )
2012
34
A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome. ( 21111415 )
2011
35
Juvenile polyposis syndrome. ( 22171123 )
2011
36
A case of juvenile polyposis syndrome: dilemmas in differential diagnosis and management. ( 22273206 )
2011
37
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome. ( 21444082 )
2011
38
Video imaging of the gastrointestinal tract in a patient with juvenile polyposis syndrome. ( 21723226 )
2011
39
Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue. ( 21267778 )
2011
40
Juvenile polyposis syndrome. ( 21291112 )
2010
41
SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. ( 20682711 )
2010
42
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. ( 20685751 )
2010
43
Efficacy of meloxicam in a patient with juvenile polyposis syndrome. ( 19412013 )
2009
44
Capsule endoscopy for the small bowel in juvenile polyposis syndrome: a case series. ( 19816839 )
2009
45
Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States. ( 19407664 )
2009
46
Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. ( 19124115 )
2009
47
[Efficacy of meloxicam in juvenile polyposis syndrome. A case report]. ( 19642502 )
2009
48
Pediatric juvenile polyposis syndromes: an update. ( 19463221 )
2009
49
Juvenile polyposis syndrome affecting the stomach: a case report. ( 18826596 )
2008
50
Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. ( 18160401 )
2008

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
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 1513)
# 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 SMAD4 SMAD4, 4-BP DEL, NT1372 deletion Pathogenic
14 SMAD4 SMAD4, 2-BP DEL deletion Pathogenic
15 SMAD4 SMAD4, 1-BP INS insertion Pathogenic
16 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
17 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 GRCh38 Chromosome 18, 51065548: 51065548
18 SMAD4 SMAD4, 2-BP DEL, 959AC deletion Pathogenic
19 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh37 Chromosome 18, 48593411: 48593411
20 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh38 Chromosome 18, 51067041: 51067041
21 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh38 Chromosome 18, 51013658: 51078467
22 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh37 Chromosome 18, 48540028: 48604837
23 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh37 Chromosome 18, 48575179: 48575180
24 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh38 Chromosome 18, 51048809: 51048810
25 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh37 Chromosome 18, 48575181: 48575187
26 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh38 Chromosome 18, 51048811: 51048817
27 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh37 Chromosome 18, 48575209: 48575209
28 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh38 Chromosome 18, 51048839: 51048839
29 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh37 Chromosome 18, 48575670: 48575671
30 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh38 Chromosome 18, 51049300: 51049301
31 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh37 Chromosome 18, 48575677: 48575677
32 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh38 Chromosome 18, 51049307: 51049307
33 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh37 Chromosome 18, 48581212: 48581223
34 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh38 Chromosome 18, 51054842: 51054853
35 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh37 Chromosome 18, 48581229: 48581229
36 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh38 Chromosome 18, 51054859: 51054859
37 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh37 Chromosome 18, 48581234: 48581234
38 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh38 Chromosome 18, 51054864: 51054864
39 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh37 Chromosome 18, 48581304: 48581304
40 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh38 Chromosome 18, 51054934: 51054934
41 SMAD4 NM_005359.5(SMAD4): c.668-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584495: 48604837
42 SMAD4 NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs) duplication Pathogenic rs377767334 GRCh37 Chromosome 18, 48584519: 48584519
43 SMAD4 NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs) duplication Pathogenic rs377767334 GRCh38 Chromosome 18, 51058149: 51058149
44 SMAD4 NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs) insertion Pathogenic rs377767335 GRCh37 Chromosome 18, 48584556: 48584557
45 SMAD4 NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs) insertion Pathogenic rs377767335 GRCh38 Chromosome 18, 51058186: 51058187
46 SMAD4 NM_005359.5(SMAD4): c.788-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584710: 48604837
47 SMAD4 NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs) deletion Pathogenic rs377767336 GRCh37 Chromosome 18, 48584753: 48584754
48 SMAD4 NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs) deletion Pathogenic rs377767336 GRCh38 Chromosome 18, 51058383: 51058384
49 SMAD4 NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs) duplication Pathogenic rs377767338 GRCh37 Chromosome 18, 48586256: 48586259
50 SMAD4 NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs) duplication Pathogenic rs377767338 GRCh38 Chromosome 18, 51059886: 51059889

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 APC BMP2 BMPR1A PTEN PTGS2 SMAD4
2 12.61 APC BMP2 PTEN PTGS2 SMAD4
3
Show member pathways
12.27 BMP2 BMPR1A SMAD4 SMAD9
4
Show member pathways
12.1 APC BMP2 BMPR1A SMAD4 SMAD9
5 11.99 APC PTGS2 SMAD4
6 11.99 APC ENG SMAD4 SMAD9
7
Show member pathways
11.9 PTEN SMAD4 STK11
8 11.89 APC BMP2 BMPR1A SMAD4
9 11.86 BMPR1A PTEN SMAD4 STK11
10 11.81 APC PTEN SMAD4
11 11.77 APC BMPR1A SMAD4 SMAD9
12 11.76 BMP2 PTEN SMAD4
13 11.69 ENG SMAD4 SMAD9
14 11.42 ENG SMAD4 SMAD9
15 11.38 BMP2 BMPR1A SMAD4 SMAD9
16 11.3 BMP2 BMPR1A SMAD4
17
Show member pathways
11.11 BMP2 BMPR1A SMAD4 SMAD9
18 11.1 APC SMAD4
19
Show member pathways
11.05 SMAD4 SMAD9
20 11.01 BMP2 SMAD9
21 11 ENG SMAD4
22 10.93 PTEN SMAD4
23 10.68 BMP2 SMAD9
24 10.59 SMAD4 SMAD9
25 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 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.88 APC BMP2 PTEN PTGS2
2 in utero embryonic development GO:0001701 9.8 BMP2 BMPR1A SMAD4
3 heart development GO:0007507 9.8 BMP2 BMPR1A ENG PTEN
4 negative regulation of cell proliferation GO:0008285 9.8 APC BMP2 PTEN PTGS2 SMAD4 STK11
5 transforming growth factor beta receptor signaling pathway GO:0007179 9.73 BMPR1A SMAD4 SMAD9
6 canonical Wnt signaling pathway GO:0060070 9.72 APC PTEN STK11
7 cartilage development GO:0051216 9.69 BMP2 BMPR1A SMAD9
8 SMAD protein signal transduction GO:0060395 9.65 BMP2 SMAD4 SMAD9
9 positive regulation of bone mineralization GO:0030501 9.64 BMP2 BMPR1A
10 positive regulation of BMP signaling pathway GO:0030513 9.63 ENG SMAD4
11 bone mineralization GO:0030282 9.63 BMP2 MINPP1 PTGS2
12 endoderm development GO:0007492 9.62 BMPR1A SMAD4
13 developmental growth GO:0048589 9.62 BMPR1A SMAD4
14 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.61 SMAD4 STK11
15 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.61 BMP2 BMPR1A
16 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.6 ENG SMAD4
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.59 BMPR1A ENG
18 positive regulation of SMAD protein signal transduction GO:0060391 9.58 BMPR1A SMAD4
19 outflow tract septum morphogenesis GO:0003148 9.58 BMPR1A ENG SMAD4
20 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.57 ENG SMAD4
21 response to transforming growth factor beta GO:0071559 9.54 ENG SMAD4
22 endocardial cushion morphogenesis GO:0003203 9.54 BMP2 BMPR1A ENG
23 dorsal aorta morphogenesis GO:0035912 9.52 BMPR1A ENG
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.46 BMP2 BMPR1A ENG SMAD4
25 regulation of cardiac muscle cell apoptotic process GO:0010665 9.43 BMPR1A ENG
26 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.43 BMP2 SMAD4 SMAD9
27 cellular response to BMP stimulus GO:0071773 9.26 BMP2 BMPR1A SMAD4 SMAD9
28 BMP signaling pathway GO:0030509 9.02 BMP2 BMPR1A ENG SMAD4 SMAD9

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

# Name GO ID Score Top Affiliating Genes
1 inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity GO:0051717 8.62 MINPP1 PTEN

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
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