JPS
MCID: JVN014
MIFTS: 68

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 56 12 24 52 25 58 73 36 29 54 6 15 71
Juvenile Intestinal Polyposis 56 52 25 58 73
Jps 56 52 25 58 73
Jip 56 52 25 58 73
Juvenile Polyposis Syndrome, Infantile Form 56 13
Juvenile Gastrointestinal Polyposis 58 71
Pji 56 52
Polyposis, Familial, of Entire Gastrointestinal Tract 56
Polyposis Familial of Entire Gastrointestinal Tract 52
Polyposis, Juvenile Intestinal; Pji 56
Juvenile Intestinal Polyposis; Jip 56
Polyposis, Juvenile Intestinal 56
Polyposis Juvenile Intestinal 52
Polyposis Syndrome, Juvenile 39
Juvenile Polyposis 6

Characteristics:

Orphanet epidemiological data:

58
juvenile polyposis syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Juvenile Polyposis Syndrome

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. Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome. Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood. Most juvenile polyps are benign, but there is a chance that polyps can become cancerous (malignant). It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract. The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.

MalaCards based summary : Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to juvenile polyposis of infancy and juvenile polyposis/hereditary hemorrhagic telangiectasia 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 Trastuzumab and Cola have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and brain, and related phenotypes are rectal polyposis and juvenile colonic polyposis

Disease Ontology : 12 A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Juvenile polyposis syndrome (JPS) is an autosomal dominant condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway.

UniProtKB/Swiss-Prot : 73 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 : 74 Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance... 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 255)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis of infancy 33.2 PTEN BMPR1A
2 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 32.9 SMAD4 BMPR1A ACVRL1
3 telangiectasis 31.0 SMAD4 BMPR1A ACVRL1
4 ruvalcaba syndrome 30.9 PTEN DUSP13
5 peutz-jeghers syndrome 30.5 STK11 SMAD4 PTEN APC
6 chromosome 10q23 deletion syndrome 30.4 PTEN BMPR1A
7 polyposis, skin pigmentation, alopecia, and fingernail changes 30.1 STK11 SMAD4 PTEN MUTYH BMPR1A
8 cleft palate, isolated 29.9 TGFA SMAD9 NOG BMPR1A BMP2
9 neurofibromatosis 29.7 PMS2 MSH6 MSH2 MLH1
10 ulcerative colitis 29.6 SMAD4 MSH6 MSH2 MLH1
11 familial colorectal cancer 29.6 MUTYH MSH2 MLH1 APC
12 colitis 29.6 SMAD4 PTGS2 MSH6 MSH2 MLH1
13 rectum adenocarcinoma 29.5 PMS2 MSH6 MSH2 MLH1
14 cowden syndrome 1 29.5 STK11 SMAD4 PTEN MUTYH MSH6 MSH2
15 duodenum adenocarcinoma 29.5 PMS2 MSH6 MSH2 MLH1
16 gastric adenocarcinoma 29.4 TGFA SMAD4 PTGS2 PTEN MLH1 BMPR1A
17 rectum cancer 29.3 MUTYH MSH6 MSH2 MLH1 APC
18 adenoma 29.2 SMAD4 PTGS2 MUTYH MSH6 MSH2 MLH1
19 colorectal adenoma 29.1 PTGS2 MUTYH MSH2 MLH1 GREM1 APC
20 familial adenomatous polyposis 29.0 SMAD4 PTGS2 PMS2 MUTYH MSH6 MSH2
21 pancreatic cancer 28.9 TGFA STK11 SMAD4 PTGS2 PTEN MSH2
22 adenocarcinoma 28.9 TGFA STK11 SMAD4 PTGS2 PTEN MSH6
23 colorectal adenocarcinoma 28.9 PTGS2 PTEN PMS2 MSH6 MSH2 MLH1
24 cowden syndrome 28.5 STK11 SMAD4 PTEN PMS2 MUTYH MSH6
25 ovarian cancer 28.0 TGFA STK11 SMAD4 PTGS2 PTEN PMS2
26 colorectal cancer 28.0 TGFA STK11 SMAD4 PTGS2 PTEN PMS2
27 hereditary mixed polyposis syndrome 28.0 STK11 SMAD4 PTGS2 PTEN PMS2 MUTYH
28 lynch syndrome 27.9 STK11 SMAD4 PTEN PMS2 MUTYH MSH6
29 breast cancer 27.3 TGFA STK11 SMAD4 PTGS2 PTEN PMS2
30 generalized juvenile polyposis/juvenile polyposis coli 12.5
31 prosthetic joint infection 12.2
32 chromosome 10q22.3-q23.2 deletion syndrome 11.6
33 parkinson disease 2, autosomal recessive juvenile 11.6
34 telangiectasia, hereditary hemorrhagic, type 4 11.3
35 periodontitis, aggressive, 1 11.2
36 familial colorectal cancer type x 10.5 SMAD4 BMPR1A
37 pulmonary arterial hypertension associated with congenital heart disease 10.4 SMAD9 BMPR1A
38 hyperplastic polyposis syndrome 10.4 MUTYH APC
39 brachydactyly, type a1, b 10.3 NOG BMPR1A BMP2
40 hereditary hemorrhagic telangiectasia 10.3
41 hypoglycemia 10.3
42 gastrointestinal adenoma 10.3 SMAD4 PMS2 MUTYH
43 polyposis, gastric 10.3
44 fibrodysplasia ossificans progressiva 10.3 NOG BMPR1A BMP2
45 spindle cell intraocular melanoma 10.3 PMS2 MLH1
46 brachydactyly, type a2 10.3 NOG BMPR1A BMP2
47 diarrhea 10.3
48 desmoid tumor 10.3 PTGS2 MUTYH APC
49 body mass index quantitative trait locus 1 10.2
50 acute cystitis 10.2

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:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rectal polyposis 58 31 obligate (100%) Obligate (100%) HP:0100896
2 juvenile colonic polyposis 58 31 obligate (100%) Obligate (100%) HP:0012198
3 juvenile gastrointestinal polyposis 58 31 obligate (100%) Obligate (100%) HP:0004784
4 failure to thrive 58 31 frequent (33%) Occasional (29-5%) HP:0001508
5 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 small intestinal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0030256
8 multiple gastric polyps 31 frequent (33%) HP:0004394
9 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
10 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
11 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
12 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
13 chronic fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012432
14 colon cancer 58 31 very rare (1%) Occasional (29-5%) HP:0003003
15 large forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0002003
16 hematochezia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002573
17 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
18 neoplasm of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100833
19 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
20 spontaneous, recurrent epistaxis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004406
21 clubbing of fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0100759
22 intussusception 58 31 occasional (7.5%) Occasional (29-5%) HP:0002576
23 hamartomatous stomach polyps 58 31 occasional (7.5%) Occasional (29-5%) HP:0004795
24 rectocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0100822
25 rectal prolapse 31 occasional (7.5%) HP:0002035
26 clubbing 31 occasional (7.5%) HP:0001217
27 duodenal adenocarcinoma 31 occasional (7.5%) HP:0006771
28 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
29 hypertelorism 58 31 very rare (1%) Very rare (<4-1%) HP:0000316
30 narrow mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0000160
31 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
32 mucosal telangiectasiae 58 31 very rare (1%) Very rare (<4-1%) HP:0100579
33 low-set ears 58 31 very rare (1%) Very rare (<4-1%) HP:0000369
34 multiple lipomas 58 31 very rare (1%) Very rare (<4-1%) HP:0001012
35 transient ischemic attack 58 31 very rare (1%) Very rare (<4-1%) HP:0002326
36 downslanted palpebral fissures 58 31 very rare (1%) Very rare (<4-1%) HP:0000494
37 visceral angiomatosis 58 31 very rare (1%) Very rare (<4-1%) HP:0100761
38 neoplasm of the pancreas 58 31 very rare (1%) Very rare (<4-1%) HP:0002894
39 hypoproteinemia 58 31 very rare (1%) Very rare (<4-1%) HP:0003075
40 cerebral arteriovenous malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0002408
41 protein-losing enteropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0002243
42 brain abscess 58 31 very rare (1%) Very rare (<4-1%) HP:0030049
43 anasarca 58 31 very rare (1%) Very rare (<4-1%) HP:0012050
44 hemangioblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0010797
45 pulmonary arteriovenous malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0006548
46 abnormal onset of bleeding 58 31 very rare (1%) Very rare (<4-1%) HP:0040231
47 extrahepatic portal hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0004941
48 hepatic arteriovenous malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0006574
49 hypokalemia 31 HP:0002900
50 edema 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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
rectal prolapse
diarrhea
intussusception
rectal bleeding
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.7 ACVRL1 BMPR1A DUSP13
2 Decreased viability GR00221-A-2 9.7 ACVRL1 BMPR1A DUSP13
3 Decreased viability GR00221-A-3 9.7 ACVRL1 BMPR1A DUSP13
4 Decreased viability GR00221-A-4 9.7 ACVRL1 BMPR1A
5 Decreased viability GR00240-S-1 9.7 STK11
6 Decreased viability GR00249-S 9.7 APC BMPR1A MSH6 SMAD4
7 Decreased viability GR00301-A 9.7 MSH2 TGFA
8 Decreased viability GR00386-A-1 9.7 GREM1 MLH1 NOG PTEN STK11
9 Decreased viability GR00402-S-2 9.7 BMP2
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 PTEN

MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 APC BMP2 BMPR1A CEBPB ELAVL1 GREM1
2 homeostasis/metabolism MP:0005376 10.48 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
3 digestive/alimentary MP:0005381 10.44 ACVRL1 APC BMP2 BMPR1A ELAVL1 MLH1
4 mortality/aging MP:0010768 10.43 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
5 growth/size/body region MP:0005378 10.41 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
6 immune system MP:0005387 10.41 APC BMP2 BMPR1A CEBPB ELAVL1 MLH1
7 hematopoietic system MP:0005397 10.4 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
8 cardiovascular system MP:0005385 10.39 ACVRL1 APC BMP2 BMPR1A ELAVL1 NOG
9 embryo MP:0005380 10.36 ACVRL1 APC BMP2 BMPR1A ELAVL1 GREM1
10 endocrine/exocrine gland MP:0005379 10.35 APC BMPR1A CEBPB ELAVL1 MLH1 NOG
11 craniofacial MP:0005382 10.34 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
12 integument MP:0010771 10.3 APC BMPR1A CEBPB MLH1 MSH2 MSH6
13 neoplasm MP:0002006 10.28 APC BMPR1A CEBPB ELAVL1 MLH1 MSH2
14 muscle MP:0005369 10.23 ACVRL1 APC BMPR1A CEBPB ELAVL1 NOG
15 nervous system MP:0003631 10.22 ACVRL1 APC BMP2 BMPR1A GREM1 MSH2
16 limbs/digits/tail MP:0005371 10.16 APC BMP2 BMPR1A ELAVL1 GREM1 NOG
17 normal MP:0002873 10.15 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
18 reproductive system MP:0005389 10.13 APC BMP2 BMPR1A CEBPB ELAVL1 GREM1
19 liver/biliary system MP:0005370 10.1 ACVRL1 APC CEBPB PMS2 PTEN PTGS2
20 renal/urinary system MP:0005367 9.97 ACVRL1 APC CEBPB GREM1 NOG PTEN
21 respiratory system MP:0005388 9.85 ACVRL1 BMPR1A ELAVL1 GREM1 MLH1 NOG
22 skeleton MP:0005390 9.73 APC BMP2 BMPR1A CEBPB ELAVL1 GREM1
23 vision/eye MP:0005391 9.32 APC BMPR1A CEBPB ELAVL1 MLH1 NOG

Drugs & Therapeutics for Juvenile Polyposis Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
2 Cola Phase 2
3 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection and Classification of Colon Polyps: A Comparison of High Definition White Light and Narrow Band Imaging (Endoscopic Trimodal Imaging; ETMI) Completed NCT00825292 Phase 2
2 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
3 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
4 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
5 Infectious Agents in Pediatric Crohn's Disease Completed NCT00237055
6 French Digestive Polyposis Cohorte Recruiting NCT01987518

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

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

40
Colon, Small Intestine, Brain, Pancreas, Heart, Smooth Muscle, Bone

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 271)
# Title Authors PMID Year
1
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 24 56 6
15031030 2004
2
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 24 6 56
11381269 2001
3
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 61 6 54 56
9811934 1998
4
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 6 56 24
9582123 1998
5
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 61 54 24 56
17873119 2007
6
Gastric juvenile polyposis associated with germline SMAD4 mutation. 56 6
15754356 2005
7
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 61 56 24
12136244 2002
8
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. 6 24
19553198 2011
9
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. 24 56
17204053 2007
10
SMAD4 mutations found in unselected HHT patients. 6 24
16613914 2006
11
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 24 56
16287957 2005
12
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 54 61 56
16152648 2005
13
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 24 56
15235019 2004
14
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. 24 6
12116240 2002
15
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 56 54 61
9399897 1997
16
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. 56 54 61
9371495 1997
17
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 61 6
25645574 2015
18
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. 61 6
21465659 2011
19
Juvenile Polyposis Syndrome 6 61
20301642 2003
20
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 6 61
11536076 2001
21
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
22
JP-HHT phenotype in Danish patients with SMAD4 mutations. 61 24
26572829 2016
23
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 24 61
25931195 2015
24
Genotype-defined cancer risk in juvenile polyposis syndrome. 24 61
25389115 2015
25
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
26
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 24 61
24525918 2014
27
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 61 24
23239472 2013
28
Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. 24 61
22965402 2012
29
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 61 24
22810475 2012
30
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. 24 61
22067610 2012
31
Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 24 61
19438883 2010
32
Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. 61 24
19773747 2009
33
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 24 61
18178612 2008
34
Mutation screening in juvenile polyposis syndrome. 61 24
16436638 2006
35
Colonic surgery in patients with juvenile polyposis syndrome: a case series. 61 24
15690657 2005
36
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
37
De novo crypt formation and juvenile polyposis on BMP inhibition in mouse intestine. 56
15017003 2004
38
Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 6
12630959 2003
39
Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. 6
11920286 2002
40
Protean PTEN: form and function. 56
11875759 2002
41
Will the real Cowden syndrome please stand up: revised diagnostic criteria. 6
11073535 2000
42
Hereditary Hemorrhagic Telangiectasia 6
20301525 2000
43
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). 6
10751092 2000
44
Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. 6
10398437 1999
45
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 56
9915974 1999
46
PTEN and inherited hamartoma-cancer syndromes. 56
9662392 1998
47
Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. 56
9545417 1998
48
A gene for familial juvenile polyposis maps to chromosome 18q21.1. 56
9545410 1998
49
PTEN germ-line mutations in juvenile polyposis coli. 56
9425889 1998
50
Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 56
9241266 1997

Variations for Juvenile Polyposis Syndrome

ClinVar genetic disease variations for Juvenile Polyposis Syndrome:

6 (show top 50) (show all 1333) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR1A NC_000010.11:g.(?_86838865)_(86900126_?)deldeletion Pathogenic 417562 10:88598622-88659883 10:86838865-86900126
2 BMPR1A NM_004329.2(BMPR1A):c.934del (p.His312fs)deletion Pathogenic 411641 rs1060503408 10:88678993-88678993 10:86919236-86919236
3 BMPR1A NM_004329.2(BMPR1A):c.947_948CT[1] (p.Leu317fs)short repeat Pathogenic 411642 rs1060503409 10:88679006-88679009 10:86919249-86919252
4 BMPR1A NM_004329.2(BMPR1A):c.213_228del (p.Ala71_Ile72insTer)deletion Pathogenic 411600 rs1064792985 10:88649960-88649975 10:86890203-86890218
5 BMPR1A NM_004329.2(BMPR1A):c.917_920dup (p.Ile308fs)duplication Pathogenic 411629 rs1554891032 10:88678975-88678976 10:86919218-86919219
6 SMAD4 NM_005359.6(SMAD4):c.1198del (p.Arg400fs)deletion Pathogenic 405491 rs1060500734 18:48593447-48593447 18:51067077-51067077
7 SMAD4 NM_005359.6(SMAD4):c.1529del (p.Gly510fs)deletion Pathogenic 405502 rs1060500744 18:48604704-48604704 18:51078334-51078334
8 SMAD4 NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs)deletion Pathogenic 405496 rs1060500739 18:48575066-48575070 18:51048696-51048700
9 SMAD4 NC_000018.10:g.(?_51067019)_(51085042_?)deldeletion Pathogenic 417583 18:48593389-48611412 18:51067019-51085042
10 SMAD4 NM_005359.6(SMAD4):c.728_735del (p.Gly243fs)deletion Pathogenic 405500 rs1060500742 18:48584551-48584558 18:51058181-51058188
11 SMAD4 NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter)SNV Pathogenic 405490 rs1060500733 18:48591933-48591933 18:51065563-51065563
12 BMPR1A NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter)SNV Pathogenic 421656 rs759363072 10:88676945-88676945 10:86917188-86917188
13 BMPR1A NM_004329.2(BMPR1A):c.441_458delinsGA (p.Phe147fs)indel Pathogenic 429100 rs1131691179 10:88659794-88659811 10:86900037-86900054
14 BMPR1A NM_004329.2(BMPR1A):c.578dup (p.Leu193fs)duplication Pathogenic 460506 rs1554890219 10:88672041-88672042 10:86912284-86912285
15 BMPR1A NM_004329.2(BMPR1A):c.834C>A (p.Tyr278Ter)SNV Pathogenic 460512 rs1230919713 10:88677049-88677049 10:86917292-86917292
16 BMPR1A NM_004329.2(BMPR1A):c.567C>A (p.Tyr189Ter)SNV Pathogenic 460505 rs1554890213 10:88672033-88672033 10:86912276-86912276
17 BMPR1A NM_004329.2(BMPR1A):c.957dup (p.Phe320fs)duplication Pathogenic 460517 rs1554891043 10:88679016-88679017 10:86919259-86919260
18 SMAD4 NC_000018.9:g.(?_48573411)_(48604843_?)deldeletion Pathogenic 460460 18:48573411-48604843
19 SMAD4 NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)SNV Pathogenic 460552 rs1555685624 18:48581157-48581157 18:51054787-51054787
20 SMAD4 NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer)deletion Pathogenic 460529 rs1555686600 18:48593415-48593416 18:51067045-51067046
21 SMAD4 NM_005359.6(SMAD4):c.1138del (p.Arg380fs)deletion Pathogenic 460526 rs1555686506 18:48591974-48591974 18:51065604-51065604
22 SMAD4 NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs)deletion Pathogenic 460532 rs1555686608 18:48593476-48593477 18:51067106-51067107
23 SMAD4 NC_000018.10:g.(?_51065417)_(51067193_?)deldeletion Pathogenic 460469 18:51065417-51067193
24 BMPR1A NM_004329.2(BMPR1A):c.1360C>T (p.Gln454Ter)SNV Pathogenic 486794 rs1554891570 10:88683150-88683150 10:86923393-86923393
25 SMAD4 NM_005359.6(SMAD4):c.1023del (p.Pro342fs)deletion Pathogenic 486447 rs1555686469 18:48591859-48591859 18:51065489-51065489
26 BMPR1A NM_004329.2(BMPR1A):c.44_47del (p.Leu15fs)deletion Pathogenic 529908 rs1554886816 10:88635817-88635820 10:86876060-86876063
27 BMPR1A NM_004329.2(BMPR1A):c.731dup (p.Tyr245fs)duplication Pathogenic 529921 rs1554890759 10:88676945-88676946 10:86917188-86917189
28 BMPR1A NM_004329.2(BMPR1A):c.910C>T (p.Gln304Ter)SNV Pathogenic 529903 rs1404557708 10:88678970-88678970 10:86919213-86919213
29 BMPR1A NM_004329.2(BMPR1A):c.366_384del (p.Glu123fs)deletion Pathogenic 529927 rs1554888970 10:88659579-88659597 10:86899822-86899840
30 BMPR1A NM_004329.2(BMPR1A):c.419del (p.Pro140fs)deletion Pathogenic 529904 rs1554888986 10:88659632-88659632 10:86899875-86899875
31 BMPR1A NM_004329.2(BMPR1A):c.864dup (p.Leu289fs)duplication Pathogenic 529920 rs1554890815 10:88677078-88677079 10:86917321-86917322
32 SMAD4 NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)SNV Pathogenic 529907 rs1555687378 18:48603023-48603023 18:51076653-51076653
33 SMAD4 NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)duplication Pathogenic 529945 rs1555687386 18:48603104-48603105 18:51076734-51076735
34 SMAD4 NM_005359.6(SMAD4):c.1409del (p.Pro470fs)deletion Pathogenic 529954 rs1555687387 18:48603106-48603106 18:51076736-51076736
35 SMAD4 NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs)short repeat Pathogenic 545822 rs1555686503 18:48591966-48591967 18:51065596-51065597
36 SMAD4 NM_005359.6(SMAD4):c.1308+2T>CSNV Pathogenic 548563 rs1555686624 18:48593559-48593559 18:51067189-51067189
37 BMPR1A NM_004329.2(BMPR1A):c.-547_-268+1deldeletion Pathogenic 571700 rs1564673999 10:88516395-88516675 10:86756638-86756918
38 BMPR1A NM_004329.2(BMPR1A):c.133_134del (p.Glu45fs)deletion Pathogenic 581321 rs1564714804 10:88649883-88649884 10:86890126-86890127
39 deletion Pathogenic 559459
40 BMPR1A NM_004329.2(BMPR1A):c.1314G>A (p.Trp438Ter)SNV Pathogenic 569831 rs1564725052 10:88681424-88681424 10:86921667-86921667
41 subset of 15 genes: BMPR1A , PTEN NC_000010.10:g.(?_88649809)_(89725239_?)deldeletion Pathogenic 583733 10:88649809-89725239
42 BMPR1A NM_004329.2(BMPR1A):c.139G>T (p.Gly47Ter)SNV Pathogenic 567654 rs1564714809 10:88649890-88649890 10:86890133-86890133
43 BMPR1A NM_004329.2(BMPR1A):c.566dup (p.Tyr189Ter)duplication Pathogenic 571137 rs1564721929 10:88672031-88672032 10:86912274-86912275
44 BMPR1A NM_004329.2(BMPR1A):c.847dup (p.Met283fs)duplication Pathogenic 566699 rs1564723486 10:88677060-88677061 10:86917303-86917304
45 BMPR1A NM_004329.2(BMPR1A):c.1374C>A (p.Tyr458Ter)SNV Pathogenic 578684 rs1564725603 10:88683164-88683164 10:86923407-86923407
46 BMPR1A NC_000010.11:g.(?_86912230)_(86917336_?)deldeletion Pathogenic 584294 10:88671987-88677093 10:86912230-86917336
47 BMPR1A NM_004329.2(BMPR1A):c.674del (p.Leu225fs)deletion Pathogenic 572096 rs1564722014 10:88672139-88672139 10:86912382-86912382
48 SMAD4 NC_000018.10:g.(?_51030213)_(51078477_?)deldeletion Pathogenic 583710 18:48556583-48604847 18:51030213-51078477
49 SMAD4 NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)deletion Pathogenic 572588 rs1568211187 18:48603040-48603064 18:51076670-51076694
50 SMAD4 NM_005359.6(SMAD4):c.939dup (p.Ile314fs)duplication Pathogenic 576856 rs1568206602 18:48586267-48586268 18:51059897-51059898

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

73 (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

Cosmic variations for Juvenile Polyposis Syndrome:

9 (show top 50) (show all 748)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87925845 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
2 COSM87902864 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 3
3 COSM88223016 TP53 large intestine,colon,adenoma,NS c.391A>C p.N131H 17:7675221-7675221 3
4 COSM87898578 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
5 COSM88376117 TP53 large intestine,rectum,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
6 COSM87906123 TP53 large intestine,rectum,adenoma,NS c.432G>C p.Q144H 17:7675180-7675180 3
7 COSM87901765 TP53 large intestine,rectum,adenoma,NS c.734G>A p.G245D 17:7674229-7674229 3
8 COSM87927805 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
9 COSM87898818 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 3
10 COSM87897745 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 3
11 COSM87921224 TP53 large intestine,colon,other,hamartoma c.835G>A p.G279R 17:7673785-7673785 3
12 COSM90693261 STK11 large intestine,rectum,adenoma,NS c.842C>T p.P281L 19:1221320-1221320 3
13 COSM90691966 STK11 large intestine,colon,adenoma,NS c.511G>A p.G171S 19:1220419-1220419 3
14 COSM91382025 SMAD4 large intestine,colon,adenoma,NS c.988G>C p.E330Q 18:51065455-51065455 3
15 COSM91397656 SMAD4 large intestine,colon,adenoma,NS c.1064A>C p.D355A 18:51065531-51065531 3
16 COSM91380674 SMAD4 large intestine,rectum,adenoma,NS c.1082G>A p.R361H 18:51065549-51065549 3
17 COSM86640829 RB1 large intestine,rectum,adenoma,NS c.1644A>C p.K548N 13:48381392-48381392 3
18 COSM97107772 NRAS large intestine,colon,adenoma,NS c.37G>C p.G13R 1:114716124-114716124 3
19 COSM97107359 NRAS large intestine,rectum,adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 3
20 COSM85462709 MSH2 large intestine,colon,adenoma,NS c.589A>G p.K197E 2:47410316-47410316 3
21 COSM87804055 KRAS large intestine,rectum,adenoma,NS c.35G>T p.G12V 12:25245350-25245350 3
22 COSM87804068 KRAS large intestine,rectum,adenoma,NS c.34G>A p.G12S 12:25245351-25245351 3
23 COSM87804075 KRAS large intestine,colon,adenoma,NS c.34G>T p.G12C 12:25245351-25245351 3
24 COSM87804028 KRAS large intestine,colon,adenoma,NS c.38G>A p.G13D 12:25245347-25245347 3
25 COSM87804005 KRAS large intestine,colon,adenoma,NS c.35G>A p.G12D 12:25245350-25245350 3
26 COSM87808527 KRAS large intestine,rectum,adenoma,NS c.182A>T p.Q61L 12:25227342-25227342 3
27 COSM87805079 KRAS large intestine,rectum,adenoma,NS c.183A>C p.Q61H 12:25227341-25227341 3
28 COSM87804155 KRAS large intestine,rectum,adenoma,NS c.34G>C p.G12R 12:25245351-25245351 3
29 COSM87804083 KRAS large intestine,colon,adenoma,NS c.35G>C p.G12A 12:25245350-25245350 3
30 COSM87805356 KRAS large intestine,rectum,adenoma,NS c.183A>T p.Q61H 12:25227341-25227341 3
31 COSM93760866 GNAS large intestine,rectum,adenoma,NS c.2530C>T p.R844C 20:58909365-58909365 3
32 COSM93760887 GNAS large intestine,colon,adenoma,NS c.2531G>A p.R844H 20:58909366-58909366 3
33 COSM141971230 FBXW7 large intestine,colon,adenoma,NS c.1558G>A p.D520N 4:152326092-152326092 3
34 COSM141953409 FBXW7 large intestine,rectum,adenoma,NS c.1513C>T p.R505C 4:152326137-152326137 3
35 COSM141953587 FBXW7 large intestine,colon,adenoma,NS c.832C>T p.R278* 4:152337831-152337831 3
36 COSM141954683 FBXW7 large intestine,rectum,adenoma,NS c.892C>T p.P298S 4:152332689-152332689 3
37 COSM141959845 FBXW7 large intestine,colon,adenoma,NS c.1514G>A p.R505H 4:152326136-152326136 3
38 COSM141953227 FBXW7 large intestine,colon,adenoma,NS c.1393C>T p.R465C 4:152328233-152328233 3
39 COSM141958901 FBXW7 large intestine,rectum,adenoma,NS c.1436G>T p.R479L 4:152326214-152326214 3
40 COSM141953665 FBXW7 large intestine,colon,adenoma,NS c.1394G>A p.R465H 4:152328232-152328232 3
41 COSM86757152 EGFR large intestine,colon,adenoma,NS c.1787C>T p.P596L 7:55165344-55165344 3
42 COSM150913542 CTNNB1 large intestine,colon,adenoma,NS c.134C>T p.S45F 3:41224646-41224646 3
43 COSM150913621 CTNNB1 large intestine,colon,adenoma,NS c.97T>C p.S33P 3:41224609-41224609 3
44 COSM150913795 CTNNB1 large intestine,rectum,adenoma,NS c.109T>C p.S37P 3:41224621-41224621 3
45 COSM150913536 CTNNB1 large intestine,colon,adenoma,NS c.121A>G p.T41A 3:41224633-41224633 3
46 COSM150913580 CTNNB1 large intestine,colon,adenoma,NS c.104T>G p.I35S 3:41224616-41224616 3
47 COSM150913727 CTNNB1 large intestine,colon,adenoma,NS c.101G>A p.G34E 3:41224613-41224613 3
48 COSM150913545 CTNNB1 large intestine,colon,adenoma,NS c.133T>C p.S45P 3:41224645-41224645 3
49 COSM150917416 CTNNB1 large intestine,colon,adenoma,NS c.490G>A p.D164N 3:41225202-41225202 3
50 COSM150563774 BRAF large intestine,colon,adenoma,NS c.1799T>A p.V600E 7:140753336-140753336 3

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:

36
# 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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TGFA STK11 SMAD9 SMAD4 PTGS2 PTEN
2
Show member pathways
13.24 TGFA SMAD4 PTEN CEBPB BMPR1A BMP2
3
Show member pathways
12.77 TGFA SMAD4 PTEN MSH6 MSH2 MLH1
4
Show member pathways
12.7 TGFA SMAD4 PTEN MLH1 APC
5
Show member pathways
12.6 SMAD9 SMAD4 BMPR1A BMP2 ACVRL1
6
Show member pathways
12.45 SMAD4 NOG ELAVL1 BMPR1A APC
7 12.43 MUTYH MSH6 MSH2 MLH1
8 12.33 TGFA SMAD4 PTGS2 PTEN MSH6 MSH2
9
Show member pathways
12.31 SMAD9 SMAD4 NOG CEBPB BMPR1A BMP2
10 12.17 SMAD9 SMAD4 GREM1 APC
11 12.1 SMAD4 PTGS2 MSH6 MSH2 MLH1 APC
12 12.08 SMAD4 BMPR1A BMP2 APC
13 12.03 SMAD9 SMAD4 BMPR1A APC
14 12.03 STK11 SMAD4 PTEN MSH6 MSH2 BMPR1A
15 11.86 SMAD4 PTEN CEBPB BMP2
16 11.85 TGFA PTEN PMS2 MSH2 MLH1 APC
17 11.82 SMAD9 SMAD4 ACVRL1
18
Show member pathways
11.79 PMS2 MSH6 MSH2 MLH1
19 11.78 TGFA PTGS2 GREM1
20
Show member pathways
11.7 SMAD4 GREM1 BMPR1A
21 11.68 MSH6 MSH2 MLH1
22 11.61 SMAD9 SMAD4 NOG GREM1 BMPR1A BMP2
23 11.6 TGFA GREM1 CEBPB
24 11.56 SMAD9 SMAD4 NOG
25 11.44 PTEN MSH6 MSH2
26 11.43 SMAD4 BMPR1A BMP2
27 11.22 PMS2 MSH6 MSH2 MLH1
28 11.21 TGFA SMAD4 APC
29
Show member pathways
11.16 SMAD9 SMAD4 ACVRL1
30 11.1 SMAD9 CEBPB BMP2
31 11.08 SMAD9 SMAD4 BMPR1A BMP2
32
Show member pathways
10.96 SMAD9 SMAD4 NOG GREM1 BMPR1A BMP2
33 10.77 SMAD9 BMP2
34 10.69 SMAD9 SMAD4

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 nucleoplasm GO:0005654 9.73 STK11 SMAD9 SMAD4 PTEN PMS2 MUTYH
2 SMAD protein complex GO:0071141 9.37 SMAD9 SMAD4
3 MutLalpha complex GO:0032389 9.32 PMS2 MLH1
4 BMP receptor complex GO:0070724 9.26 BMP2 ACVRL1
5 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
6 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.22 SMAD4 NOG GREM1 CEBPB BMPR1A BMP2
2 positive regulation of transcription, DNA-templated GO:0045893 10.08 SMAD4 GREM1 CEBPB BMPR1A BMP2 ACVRL1
3 cellular response to DNA damage stimulus GO:0006974 10.04 STK11 PMS2 MUTYH MSH6 MSH2 MLH1
4 DNA repair GO:0006281 10.02 PMS2 MUTYH MSH6 MSH2 MLH1
5 heart development GO:0007507 9.99 PTEN BMPR1A BMP2 ACVRL1
6 negative regulation of cell proliferation GO:0008285 9.98 STK11 SMAD4 PTGS2 PTEN BMP2 APC
7 angiogenesis GO:0001525 9.96 TGFA PTGS2 PTEN GREM1 ACVRL1
8 negative regulation of canonical Wnt signaling pathway GO:0090090 9.91 STK11 NOG GREM1 BMP2 APC
9 negative regulation of cell growth GO:0030308 9.88 STK11 SMAD4 GREM1 ACVRL1
10 in utero embryonic development GO:0001701 9.88 SMAD4 NOG MSH2 BMPR1A BMP2 ACVRL1
11 memory GO:0007613 9.87 PTGS2 PTEN CEBPB
12 cartilage development GO:0051216 9.86 NOG BMPR1A BMP2
13 cellular response to growth factor stimulus GO:0071363 9.85 BMPR1A BMP2 ACVRL1
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.85 SMAD9 SMAD4 BMPR1A ACVRL1
15 positive regulation of epithelial cell proliferation GO:0050679 9.84 TGFA NOG BMPR1A
16 positive regulation of osteoblast differentiation GO:0045669 9.83 CEBPB BMPR1A BMP2
17 SMAD protein signal transduction GO:0060395 9.83 SMAD9 SMAD4 BMP2
18 embryonic digit morphogenesis GO:0042733 9.82 SMAD4 NOG BMPR1A
19 pattern specification process GO:0007389 9.82 NOG BMPR1A APC
20 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 MSH6 MSH2 MLH1
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.78 SMAD4 BMPR1A BMP2 ACVRL1
22 dorsal/ventral pattern formation GO:0009953 9.77 NOG BMPR1A ACVRL1
23 endoderm development GO:0007492 9.74 SMAD4 NOG BMPR1A
24 positive regulation of SMAD protein signal transduction GO:0060391 9.7 SMAD4 BMPR1A
25 isotype switching GO:0045190 9.7 MSH6 MSH2 MLH1
26 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.69 NOG GREM1
27 mesenchymal cell differentiation GO:0048762 9.68 NOG BMP2
28 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 MSH2 MLH1
29 pharyngeal arch artery morphogenesis GO:0061626 9.67 NOG BMPR1A
30 mesendoderm development GO:0048382 9.67 SMAD4 BMPR1A
31 dorsal aorta morphogenesis GO:0035912 9.67 BMPR1A ACVRL1
32 ventricular compact myocardium morphogenesis GO:0003223 9.65 NOG BMPR1A
33 hepatocyte proliferation GO:0072574 9.64 TGFA CEBPB
34 BMP signaling pathway involved in heart development GO:0061312 9.63 NOG BMPR1A
35 positive regulation of helicase activity GO:0051096 9.63 MSH6 MSH2
36 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.63 SMAD9 SMAD4 BMP2
37 BMP signaling pathway GO:0030509 9.63 SMAD9 SMAD4 NOG BMPR1A BMP2 ACVRL1
38 endocardial cushion morphogenesis GO:0003203 9.62 NOG BMPR1A BMP2 ACVRL1
39 positive regulation of isotype switching to IgA isotypes GO:0048298 9.61 MSH2 MLH1
40 maintenance of DNA repeat elements GO:0043570 9.61 MSH6 MSH2
41 ureteric bud formation GO:0060676 9.58 NOG GREM1
42 somatic hypermutation of immunoglobulin genes GO:0016446 9.56 PMS2 MSH6 MSH2 MLH1
43 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.54 MSH2 MLH1
44 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MSH6 MSH2 MLH1
45 mismatch repair GO:0006298 9.35 PMS2 MUTYH MSH6 MSH2 MLH1
46 cellular response to BMP stimulus GO:0071773 9.1 SMAD9 SMAD4 NOG BMPR1A BMP2 ACVRL1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.4 TGFA STK11 SMAD9 SMAD4 PTGS2 PTEN
2 protein kinase binding GO:0019901 9.95 PTEN MSH2 ELAVL1 APC ACVRL1
3 chromatin binding GO:0003682 9.93 SMAD4 MSH6 MSH2 MLH1 CEBPB
4 enzyme binding GO:0019899 9.89 PTGS2 PTEN MSH6 MSH2 MLH1
5 ATPase activity GO:0016887 9.86 PMS2 MSH6 MSH2 MLH1
6 SMAD binding GO:0046332 9.69 BMPR1A BMP2 ACVRL1
7 protein homodimerization activity GO:0042803 9.61 SMAD4 PTGS2 NOG MSH6 MSH2 GREM1
8 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.57 BMPR1A ACVRL1
9 MutSalpha complex binding GO:0032407 9.54 PMS2 MUTYH MLH1
10 BMP receptor activity GO:0098821 9.52 BMPR1A ACVRL1
11 MutLalpha complex binding GO:0032405 9.5 MUTYH MSH6 MSH2
12 transforming growth factor beta receptor activity, type I GO:0005025 9.48 BMPR1A ACVRL1
13 single guanine insertion binding GO:0032142 9.46 MSH6 MSH2
14 single thymine insertion binding GO:0032143 9.43 MSH6 MSH2
15 oxidized purine DNA binding GO:0032357 9.43 MUTYH MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.33 MSH6 MSH2 MLH1
17 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Juvenile Polyposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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