JPS
MCID: JVN014
MIFTS: 65

Juvenile Polyposis Syndrome (JPS)

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

Aliases & Classifications for Juvenile Polyposis Syndrome

MalaCards integrated aliases for Juvenile Polyposis Syndrome:

Name: Juvenile Polyposis Syndrome 57 12 25 20 43 58 72 36 29 54 6 15 70
Juvenile Intestinal Polyposis 57 20 43 58 72
Jps 57 20 43 58 72
Jip 57 20 43 58 72
Juvenile Gastrointestinal Polyposis 58 70
Polyposis Juvenile Intestinal 20 6
Pji 57 20
Polyposis, Familial, of Entire Gastrointestinal Tract 57
Polyposis Familial of Entire Gastrointestinal Tract 20
Polyposis, Juvenile Intestinal; Pji 57
Juvenile Intestinal Polyposis; Jip 57
Polyposis, Juvenile Intestinal 57
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
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:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Juvenile Polyposis Syndrome

MedlinePlus Genetics : 43 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. Affiliated tissues include colon, small intestine and pancreas, 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.

GARD : 20 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® : 57 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden syndrome-1 (158350). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS. (174900) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 222)
# Related Disease Score Top Affiliating Genes
1 juvenile polyposis of infancy 32.4 PTEN BMPR1A
2 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 32.1 SMAD4 BMPR1A ACVRL1
3 generalized juvenile polyposis/juvenile polyposis coli 31.2 SMAD4 BMPR1A
4 telangiectasis 31.1 SMAD4 BMPR1A ACVRL1
5 ruvalcaba syndrome 30.7 PTEN DUSP13 BMPR1A
6 arteriovenous malformation 30.7 SMAD4 PTEN ACVRL1
7 peutz-jeghers syndrome 30.5 STK11 SMAD4 PTEN APC
8 chromosome 10q23 deletion syndrome 30.4 PTEN BMPR1A
9 polyposis, skin pigmentation, alopecia, and fingernail changes 30.4 STK11 MUTYH BMPR1A
10 gastric adenocarcinoma 29.9 SMAD4 PTGS2 PTEN MLH1 APC
11 loeys-dietz syndrome 29.9 SMAD4 GREM1 ACVRL1
12 neurofibromatosis 29.9 PMS2 MSH6 MSH2 MLH1
13 squamous cell carcinoma 29.9 TGFA STK11 SMAD4 PTGS2 PTEN
14 ulcerative colitis 29.8 SMAD4 MSH6 MSH2 MLH1
15 familial adenomatous polyposis 29.7 SMAD4 PTGS2 MUTYH MSH6 MSH2 MLH1
16 rectum adenocarcinoma 29.7 PMS2 MSH6 MSH2 MLH1
17 colitis 29.7 SMAD4 PTGS2 MSH6 MSH2 MLH1
18 adenoma 29.6 SMAD4 PTGS2 MUTYH MSH6 MSH2 MLH1
19 duodenum adenocarcinoma 29.6 PMS2 MSH6 MSH2 MLH1
20 rectum cancer 29.5 MUTYH MSH6 MSH2 MLH1 APC
21 familial colorectal cancer 29.4 MUTYH MSH2 MLH1 GREM1 APC
22 gastric cancer 29.3 TGFA SMAD4 PTGS2 PTEN MUTYH MSH6
23 colorectal adenoma 29.3 PTGS2 PTEN MUTYH MSH2 MLH1 GREM1
24 colorectal adenocarcinoma 29.2 PTGS2 PTEN PMS2 MSH6 MSH2 MLH1
25 pancreatic cancer 29.2 TGFA STK11 SMAD4 PTGS2 PTEN MSH2
26 skin carcinoma 29.2 STK11 PTGS2 PTEN PMS2 MSH6 MSH2
27 cowden syndrome 1 29.2 STK11 SMAD4 PTEN PMS2 MUTYH MSH6
28 cowden syndrome 29.1 STK11 SMAD4 PTEN PMS2 MUTYH MSH6
29 adenocarcinoma 28.9 TGFA STK11 SMAD4 PTGS2 PTEN MSH6
30 lynch syndrome 28.7 STK11 SMAD4 PTEN PMS2 MUTYH MSH6
31 hereditary mixed polyposis syndrome 28.5 STK11 SMAD4 PTGS2 PTEN PMS2 MUTYH
32 ovarian cancer 28.2 TGFA STK11 SMAD4 PTGS2 PTEN PMS2
33 breast cancer 27.9 TGFA STK11 SMAD4 PTGS2 PTEN PMS2
34 prosthetic joint infection 11.4
35 chromosome 10q22.3-q23.2 deletion syndrome 11.1
36 telangiectasia, hereditary hemorrhagic, type 4 11.0
37 hereditary hemorrhagic telangiectasia 10.4
38 familial colorectal cancer type x 10.4 SMAD4 BMPR1A
39 tumor predisposition syndrome 10.3
40 cutaneous telangiectasia and cancer syndrome, familial 10.3
41 inherited cancer-predisposing syndrome 10.3
42 brachydactyly, type a1, b 10.3 NOG BMPR1A BMP2
43 gastrointestinal adenoma 10.3 SMAD4 PMS2 MUTYH
44 pulmonary arterial hypertension associated with congenital heart disease 10.2 SMAD9 BMPR1A
45 b-lymphoblastic leukemia/lymphoma with t 10.2 MSH6 BMPR1A APC
46 fibrodysplasia ossificans progressiva 10.2 NOG BMPR1A BMP2
47 spindle cell intraocular melanoma 10.2 PMS2 MLH1
48 desmoid tumor 10.2 PTGS2 MUTYH APC
49 silent pituitary adenoma 10.2 MSH6 MSH2
50 intestinal polyposis syndrome 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 low-set ears 58 31 very rare (1%) Very rare (<4-1%) HP:0000369
31 multiple lipomas 58 31 very rare (1%) Very rare (<4-1%) HP:0001012
32 transient ischemic attack 58 31 very rare (1%) Very rare (<4-1%) HP:0002326
33 mucosal telangiectasiae 58 31 very rare (1%) Very rare (<4-1%) HP:0100579
34 downslanted palpebral fissures 58 31 very rare (1%) Very rare (<4-1%) HP:0000494
35 narrow mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0000160
36 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
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 arteriovenous malformation 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

46 (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 immune system MP:0005387 10.44 APC BMP2 BMPR1A CEBPB DUSP13 ELAVL1
5 hematopoietic system MP:0005397 10.43 ACVRL1 APC BMP2 BMPR1A CEBPB DUSP13
6 mortality/aging MP:0010768 10.43 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
7 growth/size/body region MP:0005378 10.41 ACVRL1 APC BMP2 BMPR1A CEBPB ELAVL1
8 cardiovascular system MP:0005385 10.39 ACVRL1 APC BMP2 BMPR1A ELAVL1 NOG
9 endocrine/exocrine gland MP:0005379 10.39 APC BMPR1A CEBPB DUSP13 ELAVL1 MLH1
10 embryo MP:0005380 10.36 ACVRL1 APC BMP2 BMPR1A ELAVL1 GREM1
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 nervous system MP:0003631 10.25 ACVRL1 APC BMP2 BMPR1A ELAVL1 GREM1
15 muscle MP:0005369 10.23 ACVRL1 APC BMPR1A CEBPB ELAVL1 NOG
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 9.28 APC BMPR1A CEBPB ELAVL1 NOG PTEN

Drugs & Therapeutics for Juvenile Polyposis Syndrome

Search Clinical Trials , 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

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

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

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 305)
# Title Authors PMID Year
1
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 61 6 25 54 57
17873119 2007
2
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 25 61 6 57
12136244 2002
3
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 57 6 25
16287957 2005
4
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 57 6 61 54
16152648 2005
5
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 6 57 25
15235019 2004
6
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 57 6 25
15031030 2004
7
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 57 25 6
11381269 2001
8
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 6 61 54 57
9811934 1998
9
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. 57 6 25
9582123 1998
10
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. 25 61 6
24525918 2014
11
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 61 25 6
23239472 2013
12
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 61 6 25
22810475 2012
13
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. 61 25 6
22067610 2012
14
Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 6 25 61
19438883 2010
15
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 61 6 25
18178612 2008
16
Mutation screening in juvenile polyposis syndrome. 6 61 25
16436638 2006
17
Gastric juvenile polyposis associated with germline SMAD4 mutation. 6 57
15754356 2005
18
BMPR1A mutations in juvenile polyposis affect cellular localization. 6 25
23433720 2013
19
Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation. 6 25
22331366 2012
20
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 6 25
22316667 2012
21
Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. 25 6
20843829 2010
22
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 25 6
20101697 2010
23
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 6 25
18823382 2009
24
ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. 25 57
17204053 2007
25
SMAD4 mutations found in unselected HHT patients. 25 6
16613914 2006
26
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. 25 6
16685657 2006
27
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. 6 25
16525031 2006
28
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 6 25
12417513 2002
29
Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. 25 6
12116240 2002
30
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 54 61 57
9399897 1997
31
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. 57 61 54
9371495 1997
32
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. 6 61
27375208 2016
33
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. 61 6
22993021 2013
34
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? 61 6
22748914 2012
35
Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 61 6
21572342 2012
36
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. 61 6
21465659 2011
37
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome. 61 6
17362581 2007
38
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 61 6
11536076 2001
39
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. 6 61
11583957 2001
40
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 6 61
10764709 2000
41
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. 6
32573726 2020
42
Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. 6
30251589 2018
43
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 6
28944238 2017
44
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. 6
27302097 2016
45
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 6
27595937 2016
46
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
47
JP-HHT phenotype in Danish patients with SMAD4 mutations. 25 61
26572829 2016
48
Severe constipation in a patient with Myhre syndrome: a case report. 6
26636501 2016
49
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. 61 25
25931195 2015
50
Genotype-defined cancer risk in juvenile polyposis syndrome. 61 25
25389115 2015

Variations for Juvenile Polyposis Syndrome

ClinVar genetic disease variations for Juvenile Polyposis Syndrome:

6 (show top 50) (show all 1786)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD4 SMAD4, 14-BP DEL, NT1612 Deletion Pathogenic 8547 GRCh37:
GRCh38:
2 SMAD4 SMAD4, 2-BP DEL/1-BP INS, 1596CC/T Indel Pathogenic 8548 GRCh37:
GRCh38:
3 SMAD4 NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter) SNV Pathogenic 24798 rs377767323 GRCh37: 18:48575108-48575108
GRCh38: 18:51048738-51048738
4 SMAD4 NM_005359.6(SMAD4):c.1055G>A (p.Gly352Glu) SNV Pathogenic 24828 rs377767345 GRCh37: 18:48591892-48591892
GRCh38: 18:51065522-51065522
5 SMAD4 NM_005359.6(SMAD4):c.1082G>T (p.Arg361Leu) SNV Pathogenic 24833 rs377767347 GRCh37: 18:48591919-48591919
GRCh38: 18:51065549-51065549
6 SMAD4 NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del) Deletion Pathogenic 24835 rs377767349 GRCh37: 18:48591923-48591925
GRCh38: 18:51065553-51065555
7 SMAD4 NM_005359.5(SMAD4):c.1102_1103delTC (p.Ser368Glnfs) Microsatellite Pathogenic 24837 rs377767351 GRCh37: 18:48591936-48591937
GRCh38: 18:51065566-51065567
8 SMAD4 NM_005359.6(SMAD4):c.1148T>A (p.Ile383Lys) SNV Pathogenic 24840 rs377767355 GRCh37: 18:48593397-48593397
GRCh38: 18:51067027-51067027
9 SMAD4 NM_005359.6(SMAD4):c.1586_1587dup (p.His530fs) Duplication Pathogenic 24869 rs1555687599 GRCh37: 18:48604763-48604764
GRCh38: 18:51078393-51078394
10 SMAD4 NM_005359.6(SMAD4):c.1594del (p.Ala532fs) Deletion Pathogenic 24870 rs377767378 GRCh37: 18:48604770-48604770
GRCh38: 18:51078400-51078400
11 SMAD4 NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) Indel Pathogenic 24871 rs377767379 GRCh37: 18:48604774-48604775
GRCh38: 18:51078404-51078405
12 SMAD4 NM_005359.6(SMAD4):c.1597del (p.Leu533fs) Deletion Pathogenic 24872 rs377767380 GRCh37: 18:48604773-48604773
GRCh38: 18:51078403-51078403
13 SMAD4 NM_005359.6(SMAD4):c.1598T>G (p.Leu533Arg) SNV Pathogenic 24874 rs377767382 GRCh37: 18:48604776-48604776
GRCh38: 18:51078406-51078406
14 SMAD4 NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) SNV Pathogenic 24875 rs377767383 GRCh37: 18:48604778-48604778
GRCh38: 18:51078408-51078408
15 SMAD4 NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) SNV Pathogenic 24876 rs377767382 GRCh37: 18:48604776-48604776
GRCh38: 18:51078406-51078406
16 SMAD4 NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) Deletion Pathogenic 24878 rs377767385 GRCh37: 18:48604788-48604801
GRCh38: 18:51078418-51078431
17 SMAD4 NM_005359.6(SMAD4):c.1139+274del Deletion Pathogenic 24879 rs483352871 GRCh37: 18:48592247-48592247
GRCh38: 18:51065877-51065877
18 SMAD4 NM_005359.6(SMAD4):c.1447+1G>A SNV Pathogenic 38740 rs377767387 GRCh37: 18:48603147-48603147
GRCh38: 18:51076777-51076777
19 SMAD4 NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) SNV Pathogenic 982455 GRCh37: 18:48575109-48575109
GRCh38: 18:51048739-51048739
20 BMPR1A BMPR1A, 4-BP DEL, 44TGTT Deletion Pathogenic 8229 GRCh37:
GRCh38:
21 BMPR1A NM_004329.2(BMPR1A):c.715C>T (p.Gln239Ter) SNV Pathogenic 8230 rs199476084 GRCh37: 10:88676930-88676930
GRCh38: 10:86917173-86917173
22 BMPR1A NM_004329.2(BMPR1A):c.812G>A (p.Trp271Ter) SNV Pathogenic 8231 rs199476085 GRCh37: 10:88677027-88677027
GRCh38: 10:86917270-86917270
23 BMPR1A BMPR1A, 1-BP DEL, 961C Deletion Pathogenic 8232 GRCh37:
GRCh38:
24 BMPR1A NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) SNV Pathogenic 8233 rs199476086 GRCh37: 10:88679073-88679073
GRCh38: 10:86919316-86919316
25 BMPR1A NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) SNV Pathogenic 8234 rs199476087 GRCh37: 10:88659587-88659587
GRCh38: 10:86899830-86899830
26 BMPR1A NM_004329.2(BMPR1A):c.1127G>A (p.Cys376Tyr) SNV Pathogenic 8235 rs199476088 GRCh37: 10:88679187-88679187
GRCh38: 10:86919430-86919430
27 SMAD4 SMAD4, 4-BP DEL, NT1372 Deletion Pathogenic 8540 GRCh37:
GRCh38:
28 SMAD4 SMAD4, 2-BP DEL Deletion Pathogenic 8541 GRCh37:
GRCh38:
29 SMAD4 SMAD4, 1-BP INS Insertion Pathogenic 8542 GRCh37:
GRCh38:
30 SMAD4 SMAD4, 1-BP INS Insertion Pathogenic 8542 GRCh37:
GRCh38:
31 SMAD4 SMAD4, 1-BP INS Insertion Pathogenic 8542 GRCh37:
GRCh38:
32 SMAD4 SMAD4, 2-BP DEL, 959AC Deletion Pathogenic 8544 GRCh37:
GRCh38:
33 SMAD4 NM_005359.5(SMAD4):c.(?_-17093)_(1659_?)del Deletion Pathogenic 24795 GRCh37: 18:48540028-48604837
GRCh38: 18:51013658-51078467
34 SMAD4 NM_005359.5(SMAD4):c.189_197delAAATGGAGCins44 (p.?) Indel Pathogenic 38739 GRCh37: 18:48573605-48573613
GRCh38: 18:51047235-51047243
35 SMAD4 NM_005359.6(SMAD4):c.375_381dup (p.Val128fs) Duplication Pathogenic 24801 rs377767325 GRCh37: 18:48575180-48575181
GRCh38: 18:51048810-51048811
36 SMAD4 NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) SNV Pathogenic 24802 rs377767326 GRCh37: 18:48575209-48575209
GRCh38: 18:51048839-51048839
37 SMAD4 NM_005359.6(SMAD4):c.426_427TC[2] (p.Ser144fs) Microsatellite Pathogenic 24804 rs377767328 GRCh37: 18:48575666-48575667
GRCh38: 18:51049296-51049297
38 SMAD4 NM_005359.6(SMAD4):c.437T>A (p.Leu146Ter) SNV Pathogenic 24805 rs377767329 GRCh37: 18:48575677-48575677
GRCh38: 18:51049307-51049307
39 SMAD4 NM_005359.6(SMAD4):c.516_527del (p.Ser173_Gly176del) Deletion Pathogenic 24806 rs377767330 GRCh37: 18:48581212-48581223
GRCh38: 18:51054842-51054853
40 SMAD4 NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) SNV Pathogenic 24808 rs377767332 GRCh37: 18:48581234-48581234
GRCh38: 18:51054864-51054864
41 SMAD4 NM_005359.6(SMAD4):c.608del (p.Pro203fs) Deletion Pathogenic 24809 rs377767333 GRCh37: 18:48581301-48581301
GRCh38: 18:51054931-51054931
42 SMAD4 NM_005359.5(SMAD4):c.668-?_1659+?del Deletion Pathogenic 24810 GRCh37: 18:48584495-48604837
GRCh38:
43 SMAD4 NM_005359.6(SMAD4):c.692dup (p.Ser232fs) Duplication Pathogenic 24811 rs377767334 GRCh37: 18:48584513-48584514
GRCh38: 18:51058143-51058144
44 SMAD4 NM_005359.6(SMAD4):c.692dup (p.Ser232fs) Duplication Pathogenic 24811 rs377767334 GRCh37: 18:48584513-48584514
GRCh38: 18:51058143-51058144
45 SMAD4 NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) Insertion Pathogenic 24813 rs377767335 GRCh37: 18:48584558-48584559
GRCh38: 18:51058186-51058187
46 SMAD4 NM_005359.5(SMAD4):c.788-?_1659+?del Deletion Pathogenic 24814 GRCh37: 18:48584710-48604837
GRCh38:
47 SMAD4 NM_005359.5(SMAD4):c.831_832delAC (p.Pro278Terfs) Microsatellite Pathogenic 24816 rs377767336 GRCh37: 18:48584749-48584750
GRCh38: 18:51058379-51058380
48 SMAD4 NM_005359.6(SMAD4):c.925_928dup (p.Phe310fs) Duplication Pathogenic 24818 rs377767338 GRCh37: 18:48586254-48586255
GRCh38: 18:51059884-51059885
49 SMAD4 NM_005359.6(SMAD4):c.971del (p.Cys324fs) Deletion Pathogenic 24820 rs377767340 GRCh37: 18:48591808-48591808
GRCh38: 18:51065438-51065438
50 SMAD4 NM_005359.6(SMAD4):c.982dup (p.Tyr328fs) Duplication Pathogenic 24821 rs377767341 GRCh37: 18:48591817-48591818
GRCh38: 18:51065447-51065448

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

72 (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 COSM93183877 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
2 COSM121879912 TP53 large intestine,rectum,adenoma,NS c.338G>A p.G113D 17:7674229-7674229 3
3 COSM144013587 TP53 large intestine,rectum,adenoma,NS c.700G>A p.G234S 17:7674230-7674230 3
4 COSM143391191 TP53 large intestine,colon,other,hamartoma c.718G>A p.G240R 17:7673785-7673785 3
5 COSM142564162 TP53 large intestine,colon,adenoma,NS c.524A>G p.H175R 17:7674890-7674890 3
6 COSM144314088 TP53 large intestine,colon,adenoma,NS c.-87A>C p.? 17:7675221-7675221 3
7 COSM144651337 TP53 large intestine,rectum,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 3
8 COSM112273590 TP53 large intestine,colon,other,hamartoma c.835G>A p.G279R 17:7673785-7673785 3
9 COSM144104972 TP53 large intestine,colon,adenoma,NS c.256G>C p.G86R 17:7674230-7674230 3
10 COSM144654651 TP53 large intestine,rectum,adenoma,NS c.617G>A p.G206D 17:7674229-7674229 3
11 COSM122567711 TP53 large intestine,colon,adenoma,NS c.-6A>C p.? 17:7675221-7675221 3
12 COSM121876212 TP53 large intestine,colon,adenoma,NS c.337G>A p.G113S 17:7674230-7674230 3
13 COSM143943997 TP53 large intestine,colon,adenoma,NS c.256G>A p.G86S 17:7674230-7674230 3
14 COSM145017865 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 3
15 COSM143156960 TP53 large intestine,rectum,adenoma,NS c.256G>A p.G86S 17:7674230-7674230 3
16 COSM106077247 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
17 COSM111758775 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
18 COSM145021980 TP53 large intestine,colon,adenoma,NS c.524A>G p.H175R 17:7674890-7674890 3
19 COSM122753230 TP53 large intestine,colon,other,hamartoma c.439G>A p.G147R 17:7673785-7673785 3
20 COSM106455733 TP53 large intestine,rectum,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
21 COSM112253807 TP53 large intestine,colon,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
22 COSM121902539 TP53 large intestine,rectum,adenoma,NS c.127C>G p.R43G 17:7675089-7675089 3
23 COSM145282365 TP53 large intestine,colon,adenoma,NS c.274A>C p.N92H 17:7675221-7675221 3
24 COSM144947428 TP53 large intestine,colon,adenoma,NS c.274A>C p.N92H 17:7675221-7675221 3
25 COSM143961018 TP53 large intestine,colon,other,hamartoma c.358G>A p.G120R 17:7673785-7673785 3
26 COSM122271749 TP53 large intestine,rectum,adenoma,NS c.337G>A p.G113S 17:7674230-7674230 3
27 COSM142560476 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 3
28 COSM144106262 TP53 large intestine,rectum,adenoma,NS c.46C>G p.R16G 17:7675089-7675089 3
29 COSM142559914 TP53 large intestine,rectum,adenoma,NS c.407G>A p.R136H 17:7675088-7675088 3
30 COSM142855508 TP53 large intestine,rectum,adenoma,NS c.523C>G p.R175G 17:7675089-7675089 3
31 COSM122759329 TP53 large intestine,rectum,adenoma,NS c.127C>G p.R43G 17:7675089-7675089 3
32 COSM93184097 TP53 large intestine,colon,adenoma,NS c.916C>T p.R306* 17:7673704-7673704 3
33 COSM144351508 TP53 large intestine,colon,adenoma,NS c.820G>C p.E274Q 17:7673767-7673767 3
34 COSM143162350 TP53 large intestine,rectum,adenoma,NS c.-46G>C p.? 17:7675180-7675180 3
35 COSM122291262 TP53 large intestine,colon,adenoma,NS c.457G>C p.E153Q 17:7673767-7673767 3
36 COSM121881087 TP53 large intestine,colon,adenoma,NS c.245A>G p.H82R 17:7674890-7674890 3
37 COSM143371076 TP53 large intestine,colon,adenoma,NS c.616G>A p.G206S 17:7674230-7674230 3
38 COSM142837497 TP53 large intestine,rectum,adenoma,NS c.733G>A p.G245S 17:7674230-7674230 3
39 COSM93183307 TP53 large intestine,rectum,adenoma,NS c.524G>A p.R175H 17:7675088-7675088 3
40 COSM143946806 TP53 large intestine,rectum,adenoma,NS c.257G>A p.G86D 17:7674229-7674229 3
41 COSM143175784 TP53 large intestine,colon,adenoma,NS c.256G>C p.G86R 17:7674230-7674230 3
42 COSM87925845 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
43 COSM144329826 TP53 large intestine,rectum,adenoma,NS c.406C>G p.R136G 17:7675089-7675089 3
44 COSM87902864 TP53 large intestine,colon,adenoma,NS c.641A>G p.H214R 17:7674890-7674890 3
45 COSM142854442 TP53 large intestine,colon,adenoma,NS c.733G>C p.G245R 17:7674230-7674230 3
46 COSM122734486 TP53 large intestine,colon,adenoma,NS c.520C>T p.R174* 17:7673704-7673704 3
47 COSM93566065 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 3
48 COSM122271907 TP53 large intestine,colon,adenoma,NS c.520C>T p.R174* 17:7673704-7673704 3
49 COSM144016541 TP53 large intestine,rectum,adenoma,NS c.701G>A p.G234D 17:7674229-7674229 3
50 COSM143210532 TP53 large intestine,colon,adenoma,NS c.853G>C p.E285Q 17:7673767-7673767 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 nucleus GO:0005634 10.28 TGFA STK11 SMAD9 SMAD4 PTGS2 PTEN
2 nucleoplasm GO:0005654 9.93 STK11 SMAD9 SMAD4 PTEN PMS2 MUTYH
3 heteromeric SMAD protein complex GO:0071144 9.4 SMAD9 SMAD4
4 SMAD protein complex GO:0071141 9.37 SMAD9 SMAD4
5 MutLalpha complex GO:0032389 9.32 PMS2 MLH1
6 BMP receptor complex GO:0070724 9.26 BMP2 ACVRL1
7 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
8 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 47)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.21 SMAD4 NOG GREM1 CEBPB BMPR1A BMP2
2 cell differentiation GO:0030154 10.16 STK11 SMAD9 SMAD4 NOG CEBPB BMPR1A
3 cellular response to DNA damage stimulus GO:0006974 10.05 STK11 PMS2 MUTYH MSH6 MSH2 MLH1
4 DNA repair GO:0006281 10.04 PMS2 MUTYH MSH6 MSH2 MLH1
5 heart development GO:0007507 10 PTEN BMPR1A BMP2 ACVRL1
6 negative regulation of cell proliferation GO:0008285 10 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 9.93 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 9.87 NOG BMPR1A BMP2
13 transforming growth factor beta receptor signaling pathway GO:0007179 9.87 SMAD9 SMAD4 BMPR1A ACVRL1
14 positive regulation of osteoblast differentiation GO:0045669 9.86 CEBPB BMPR1A BMP2
15 cellular response to growth factor stimulus GO:0071363 9.86 BMPR1A BMP2 ACVRL1
16 SMAD protein signal transduction GO:0060395 9.85 SMAD9 SMAD4 BMP2
17 positive regulation of epithelial cell proliferation GO:0050679 9.85 TGFA NOG BMPR1A
18 pattern specification process GO:0007389 9.82 NOG BMPR1A APC
19 embryonic digit morphogenesis GO:0042733 9.81 SMAD4 NOG BMPR1A
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 SMAD4 BMPR1A BMP2 ACVRL1
21 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.79 MSH6 MSH2 MLH1
22 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.77 SMAD4 BMPR1A BMP2
23 dorsal/ventral pattern formation GO:0009953 9.77 NOG BMPR1A ACVRL1
24 endoderm development GO:0007492 9.75 SMAD4 NOG BMPR1A
25 negative regulation of pathway-restricted SMAD protein phosphorylation GO:0060394 9.7 NOG GREM1
26 isotype switching GO:0045190 9.7 MSH6 MSH2 MLH1
27 mesenchymal cell differentiation GO:0048762 9.69 NOG BMP2
28 positive regulation of isotype switching to IgG isotypes GO:0048304 9.69 MSH2 MLH1
29 pharyngeal arch artery morphogenesis GO:0061626 9.68 NOG BMPR1A
30 dorsal aorta morphogenesis GO:0035912 9.68 BMPR1A ACVRL1
31 hepatocyte proliferation GO:0072574 9.66 TGFA CEBPB
32 mesendoderm development GO:0048382 9.66 SMAD4 BMPR1A
33 endocardial cushion formation GO:0003272 9.65 BMPR1A BMP2
34 ventricular compact myocardium morphogenesis GO:0003223 9.65 NOG BMPR1A
35 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.65 SMAD9 SMAD4 BMP2
36 positive regulation of helicase activity GO:0051096 9.64 MSH6 MSH2
37 positive regulation of isotype switching to IgA isotypes GO:0048298 9.63 MSH2 MLH1
38 maintenance of DNA repeat elements GO:0043570 9.62 MSH6 MSH2
39 endocardial cushion morphogenesis GO:0003203 9.62 NOG BMPR1A BMP2 ACVRL1
40 ureteric bud formation GO:0060676 9.61 NOG GREM1
41 BMP signaling pathway involved in heart development GO:0061312 9.61 NOG BMPR1A BMP2
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 9.55 MSH2 MLH1
44 mismatch repair GO:0006298 9.55 PMS2 MUTYH MSH6 MSH2 MLH1
45 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MSH6 MSH2 MLH1
46 BMP signaling pathway GO:0030509 9.43 SMAD9 SMAD4 NOG BMPR1A BMP2 ACVRL1
47 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 18)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 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 9.92 PTGS2 PTEN MSH6 MSH2 MLH1
5 ATPase activity GO:0016887 9.87 PMS2 MSH6 MSH2 MLH1
6 SMAD binding GO:0046332 9.67 BMPR1A BMP2 ACVRL1
7 protein homodimerization activity GO:0042803 9.61 SMAD4 PTGS2 NOG MSH6 MSH2 GREM1
8 I-SMAD binding GO:0070411 9.58 SMAD9 SMAD4
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.56 BMPR1A ACVRL1
10 MutSalpha complex binding GO:0032407 9.54 PMS2 MUTYH MLH1
11 BMP receptor activity GO:0098821 9.51 BMPR1A ACVRL1
12 MutLalpha complex binding GO:0032405 9.5 MUTYH MSH6 MSH2
13 transforming growth factor beta receptor activity, type I GO:0005025 9.48 BMPR1A ACVRL1
14 single guanine insertion binding GO:0032142 9.46 MSH6 MSH2
15 oxidized purine DNA binding GO:0032357 9.43 MUTYH MSH6 MSH2
16 single thymine insertion binding GO:0032143 9.4 MSH6 MSH2
17 guanine/thymine mispair binding GO:0032137 9.33 MSH6 MSH2 MLH1
18 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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