MCID: PLY056
MIFTS: 55

Polyposis, Juvenile Intestinal malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Polyposis, Juvenile Intestinal

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Aliases & Descriptions for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 51
Juvenile Polyposis Syndrome 51 11 23 47 24 25 53 69 26 49 13 67
Jps 47 24 25 53 69
Juvenile Intestinal Polyposis 47 25 53 69
Jip 47 25 53 69
Juvenile Gastrointestinal Polyposis 53 26 67
 
Juvenile Polyposis Syndrome, Infantile Form 51 12
Juvenile Polyposis Coli 24 67
Generalized Juvenile Polyposis/juvenile Polyposis Coli 53
Polyposis Familial of Entire Gastrointestinal Tract 47
Polyposis Juvenile Intestinal 47
Pji 47

Characteristics:

Orphanet epidemiological data:

53
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy
generalized juvenile polyposis/juvenile polyposis coli:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

63
polyposis, juvenile intestinal:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: no studies have examined the proportion of individuals with known germline pathogenic variants for jps who develop polyps. it is expected to be higher than 90%; however, some family members may not develop polyps until middle age. in some instances, hht-related symptoms in individuals with smad4 pathogenic variants may be present prior to the onset of polyps [author, personal observations]...


Classifications:



External Ids:

OMIM51 174900
Disease Ontology11 DOID:0050787
ICD10 via Orphanet30 D12.6

Summaries for Polyposis, Juvenile Intestinal

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NIH Rare Diseases:47 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. Last updated: 5/11/2015

MalaCards based summary: Polyposis, Juvenile Intestinal, also known as juvenile polyposis syndrome, is related to colorectal cancer and pancreatic cancer, and has symptoms including malabsorption, gastrointestinal hemorrhage and intestinal polyposis. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways are IL-2 Gene Expression in Activated and Quiescent T-Cells and ALK2 signaling events. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are liver/biliary system and limbs/digits/tail.

Disease Ontology:11 An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum.

Genetics Home Reference:25 Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.

OMIM:51 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...

UniProtKB/Swiss-Prot:69 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.

GeneReviews for NBK1469

Related Diseases for Polyposis, Juvenile Intestinal

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer27.4APC, ENG, MUTYH, PTEN, SMAD4, STK11
2pancreatic cancer10.9
3juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.9
4duodenum cancer10.9
5chromosome 10q23 deletion syndrome juvenile polyposis of infancy, included10.9
6prosthetic joint infection10.9
7braf-related leopard syndrome10.5BMPR1A, SMAD4
8macular dystrophy, retinal, 1, north carolina type10.5BMPR1A, PTEN
9chromosome 15q24 deletion syndrome10.5BMPR1A, PTEN
10atrial septal defect coronary sinus10.4BMPR1A, SMAD4
11vhl-related pheochromocytoma10.4ENG, SMAD4
12polysyndactyly with cardiac malformation10.4BMPR1A, PTEN
13glioma susceptibility 210.2BMPR1A, PTEN, SMAD4
14eosinophilic meningitis10.2ENG, TGFB1
15acquired amegakaryocytic thrombocytopenia10.1APC, MUTYH
16contagious pustular dermatitis10.1BMPR1A, SMAD4
17colver steer godman syndrome10.1APC, MUTYH
18mucinous adenocarcinoma10.1APC, SMAD4, STK11
19malignant hyperthermia susceptibility10.0APC, MUTYH, SMAD4
20hereditary essential tremor 510.0APC, MUTYH
21nephropathy familial with hyperuricemia10.0SMAD4, TGFB1
22multiple epiphyseal dysplasia10.0ENG, SMAD4, TGFB1
23gastric cancer, somatic10.0APC, MUTYH
24gynecomastia10.0MUTYH, TGFB1
25hereditary hemorrhagic telangiectasia10.0
26holoprosencephaly10.0ENG, SMAD4, TGFB1
27herpes simplex encephalitic 69.9APC, PTEN, SMAD4, STK11
28bannayan-riley-ruvalcaba syndrome9.8
29ruvalcaba syndrome9.8
30esophagitis9.8
31homocystinuria caused by cystathionine beta-synthase deficiency9.8ENG, SMAD9
32arrhythmogenic right ventricular cardiomyopathy9.8APC, BMPR1A, MUTYH, SMAD4
33hereditary spherocytosis9.8
34peutz-jeghers syndrome9.7
35gastric cancer9.7
36chromosome 10q23 deletion syndrome9.7
37protein-losing enteropathy9.7
38adenocarcinoma9.7
39aortic disease9.7
40achalasia9.7
41lipoma of the rectum9.7BMPR1A, JPH1, PTEN, STK11
42gallbladder papillomatosis9.6MUTYH, PTEN, SMAD4, TGFB1
43muscular dystrophy-dystroglycanopathy , type a, 29.5APC, MUTYH, PTEN, TGFB1
44tumor predisposition syndrome9.2APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
45breast cancer8.6APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
46glomerulosclerosis, focal segmental, 76.7APC, BMPR1A, ENG, JPH1, MINPP1, MUTYH

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



Diseases related to polyposis, juvenile intestinal

Symptoms for Polyposis, Juvenile Intestinal

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Symptoms by clinical synopsis from OMIM:

174900

Clinical features from OMIM:

174900

Human phenotypes related to Polyposis, Juvenile Intestinal:

 63 (show all 34)
id Description HPO Frequency HPO Source Accession
1 malabsorption63 hallmark (90%) HP:0002024
2 gastrointestinal hemorrhage63 hallmark (90%) HP:0002239
3 intestinal polyposis63 hallmark (90%) HP:0200008
4 anemia63 common (75%) HP:0001903
5 diarrhea63 common (75%) HP:0002014
6 abdominal pain63 common (75%) HP:0002027
7 multiple gastric polyps63 common (75%) HP:0004394
8 neoplasm of the colon63 typical (50%) HP:0100273
9 failure to thrive63 frequent (33%) HP:0001508
10 colon cancer63 20% HP:0003003
11 clubbing63 occasional (7.5%) HP:0001217
12 rectal prolapse63 occasional (7.5%) HP:0002035
13 hematochezia63 occasional (7.5%) HP:0002573
14 intussusception63 occasional (7.5%) HP:0002576
15 duodenal adenocarcinoma63 occasional (7.5%) HP:0006771
16 abnormality of female internal genitalia63 occasional (7.5%) HP:0000008
17 cryptorchidism63 occasional (7.5%) HP:0000028
18 abnormality of the kidney63 occasional (7.5%) HP:0000077
19 macrocephaly63 occasional (7.5%) HP:0000256
20 hypertelorism63 occasional (7.5%) HP:0000316
21 lymphedema63 occasional (7.5%) HP:0001004
22 communicating hydrocephalus63 occasional (7.5%) HP:0001334
23 atria septal defect63 occasional (7.5%) HP:0001631
24 tetralogy of fallot63 occasional (7.5%) HP:0001636
25 patent ductus arteriosus63 occasional (7.5%) HP:0001643
26 abnormality of the aorta63 occasional (7.5%) HP:0001679
27 foot polydactyly63 occasional (7.5%) HP:0001829
28 abnormality of the stomach63 occasional (7.5%) HP:0002577
29 neoplasm of the pancreas63 occasional (7.5%) HP:0002894
30 abnormality of the pulmonary artery63 occasional (7.5%) HP:0004414
31 telangiectasia of the skin63 occasional (7.5%) HP:0100585
32 intestinal fistula63 occasional (7.5%) HP:0100819
33 hypokalemia63 HP:0002900
34 hypoalbuminemia63 HP:0003073

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

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Interventional clinical trials:

idNameStatusNCT IDPhase
1French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and HyperplRecruitingNCT01987518
2Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607

Search NIH Clinical Center for Polyposis, Juvenile Intestinal

Genetic Tests for Polyposis, Juvenile Intestinal

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Genetic tests related to Polyposis, Juvenile Intestinal:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome26 24 SMAD4
2 Juvenile Gastrointestinal Polyposis26

Anatomical Context for Polyposis, Juvenile Intestinal

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MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

35
Colon, Small intestine, Pancreas, Smooth muscle, Heart, Brain, Skin

Animal Models for Polyposis, Juvenile Intestinal or affiliated genes

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MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:

40 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0APC, PTEN, SMAD4, STK11, TGFB1
2MP:00053718.7APC, BMPR1A, PTEN, SMAD4, SMAD9
3MP:00053798.7APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
4MP:00053678.6APC, PTEN, SMAD4, STK11, TGFB1
5MP:00107718.2APC, BMPR1A, ENG, PTEN, SMAD4, STK11
6MP:00053888.2BMPR1A, ENG, PTEN, SMAD9, STK11, TGFB1
7MP:00053908.2APC, BMPR1A, PTEN, SMAD4, SMAD9, TGFB1
8MP:00053978.1APC, BMPR1A, ENG, PTEN, SMAD4, STK11
9MP:00053817.9APC, ENG, PTEN, SMAD4, STK11, TGFB1
10MP:00053897.9APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
11MP:00053877.7APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
12MP:00053827.7APC, BMPR1A, ENG, SMAD4, SMAD9, STK11
13MP:00053807.5APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
14MP:00053767.5APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
15MP:00020067.4APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
16MP:00028737.4APC, BMPR1A, ENG, MINPP1, PTEN, SMAD4
17MP:00053787.2APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
18MP:00053857.0APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
19MP:00053696.9APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
20MP:00036316.7APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
21MP:00053866.6APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
22MP:00107686.2APC, BMPR1A, ENG, JPH1, MUTYH, PTEN

Publications for Polyposis, Juvenile Intestinal

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Variations for Polyposis, Juvenile Intestinal

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

69 (show all 11)
id Symbol AA change Variation ID SNP ID
1BMPR1Ap.Cys124ArgVAR_015533rs199476087
2BMPR1Ap.Ala338AspVAR_015534rs199476086
3BMPR1Ap.Cys376TyrVAR_015535rs199476088
4BMPR1Ap.Tyr62AspVAR_022828
5BMPR1Ap.Cys82TyrVAR_022829
6BMPR1Ap.Cys130ArgVAR_022830
7BMPR1Ap.Arg443CysVAR_022831rs35619497
8BMPR1Ap.Met470ThrVAR_022832rs199476089
9SMAD4p.Gly352ArgVAR_019571rs121912581
10SMAD4p.Arg361CysVAR_019572rs80338963
11SMAD4p.Glu330GlyVAR_022833rs281875324

Clinvar genetic disease variations for Polyposis, Juvenile Intestinal:

5 (show all 81)
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593494: 48593497
2BMPR1ANM_004329.2(BMPR1A): c.817C> T (p.Arg273Ter)SNVPathogenicrs587782400GRCh38Chr 10, 86917275: 86917275
3SMAD4NM_005359.5(SMAD4): c.1547dupA (p.Ser517Glufs)duplicationPathogenicrs587783060GRCh38Chr 18, 51078355: 51078355
4SMAD4NM_005359.5(SMAD4)insertionPathogenicrs786204125GRCh38Chr 18, 51076682: 51076683
5BMPR1ANM_004329.2(BMPR1A): c.243_247delTTGCT (p.Phe83Hisfs)deletionPathogenicrs786204187GRCh37Chr 10, 88651896: 88651900
6SMAD4NM_005359.5(SMAD4): c.(?_-1)_(*1_?)deldeletionPathogenicChr na, -1: -1
7SMAD4NM_005359.5(SMAD4): c.1142T> A (p.Leu381Ter)SNVPathogenicrs863224507GRCh38Chr 18, 51067021: 51067021
8BMPR1ANM_004329.2(BMPR1A): c.-152-?_*1469+?deldeletionPathogenicChr na, -1: -1
9BMPR1ANM_004329.2(BMPR1A): c.771delA (p.Val258Trpfs)deletionPathogenicrs878854673GRCh37Chr 10, 88676986: 88676986
10SMAD4NM_005359.5(SMAD4): c.1206dupT (p.Ser403Terfs)duplicationPathogenicrs878854765GRCh37Chr 18, 48593455: 48593455
11SMAD4NM_005359.5(SMAD4): c.906G> A (p.Trp302Ter)SNVPathogenicrs878854769GRCh37Chr 18, 48586237: 48586237
12SMAD4NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)deldeletionPathogenicGRCh38Chr 18, 51013658: 51078467
13SMAD4NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
14SMAD4NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
15SMAD4NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)SNVPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
16SMAD4NM_005359.5(SMAD4): c.425-6A> GSNVPathogenicrs377767327GRCh37Chr 18, 48575659: 48575659
17SMAD4NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
18SMAD4NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)SNVPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
19SMAD4NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
20SMAD4NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)SNVPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
21SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)SNVPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
22SMAD4NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
23SMAD4NM_005359.5(SMAD4): c.668-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584495: 48604837
24SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584519
25SMAD4NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
26SMAD4NM_005359.5(SMAD4): c.788-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584710: 48604837
27SMAD4NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584753: 48584754
28SMAD4NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
29SMAD4NM_005359.5(SMAD4): c.970T> C (p.Cys324Arg)SNVPathogenicrs377767339GRCh37Chr 18, 48591807: 48591807
30SMAD4NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
31SMAD4NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591819
32SMAD4NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser)SNVPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
33SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)SNVLikely pathogenic, Pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
34SMAD4NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
35SMAD4NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
36SMAD4NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)SNVPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
37SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)SNVPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
38SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
39SMAD4NM_005359.5(SMAD4): c.1139+1G> ASNVPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
40SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)SNVPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
41SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)SNVPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
42SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)SNVPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
43SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)SNVPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
44SMAD4NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
45SMAD4NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh37Chr 18, 48593517: 48593517
46SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)SNVPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
47SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)SNVPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
48SMAD4NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
49SMAD4NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
50SMAD4NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
51SMAD4NM_005359.5(SMAD4): c.1411_1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
52SMAD4NM_005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
53SMAD4NM_005359.5(SMAD4): c.1472G> T (p.Gly491Val)SNVPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
54SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)SNVPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
55SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)SNVPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
56SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)SNVPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
57SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)SNVPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
58SMAD4NM_005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
59SMAD4NM_005359.5(SMAD4): c.1547_1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
60SMAD4NM_005359.5(SMAD4): c.1564_1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
61SMAD4NM_005359.5(SMAD4): c.1571G> T (p.Trp524Leu)SNVPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
62SMAD4NM_005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604765
63SMAD4NM_005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
64SMAD4NM_005359.5(SMAD4): c.1597C> G (p.Leu533Val)SNVPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
65SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604785
66SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)SNVPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
67SMAD4NM_005359.5(SMAD4): c.424+1G> ASNVPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
68SMAD4NM_005359.5(SMAD4): c.189_197delAAATGGAGCins44 (p.?)indelPathogenicrs672601247GRCh37Chr 18, 48573605: 48573613
69BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenicChr na, -1: -1
70BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)SNVPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
71BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)SNVPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
72BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenicChr na, -1: -1
73BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)SNVPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
74BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)SNVLikely pathogenic, Pathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
75BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)SNVPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
76BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)SNVPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
77SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenicChr na, -1: -1
78SMAD4SMAD4, 2-BP DELdeletionPathogenicChr na, -1: -1
79SMAD4SMAD4, 1-BP INSinsertionPathogenicChr na, -1: -1
80SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)SNVPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
81SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Polyposis, Juvenile Intestinal

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Search GEO for disease gene expression data for Polyposis, Juvenile Intestinal.

Pathways for genes affiliated with Polyposis, Juvenile Intestinal

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Pathways related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7SMAD4, TGFB1
29.4SMAD4, SMAD9
39.3PTEN, SMAD4, TGFB1
49.3APC, SMAD4, TGFB1
59.2BMPR1A, PTEN, SMAD4, STK11
6
Show member pathways
9.1BMPR1A, SMAD4, SMAD9
79.1BMPR1A, SMAD4, SMAD9
8
Show member pathways
9.0PTEN, SMAD4, STK11, TGFB1
99.0APC, BMPR1A, SMAD4, TGFB1
109.0ENG, SMAD4, STK11, TGFB1
118.9APC, PTEN, SMAD4, TGFB1
12
Show member pathways
8.9APC, PTEN, SMAD4, TGFB1
13
Show member pathways
8.8SMAD4, SMAD9, TGFB1
14
Show member pathways
8.8SMAD4, SMAD9, TGFB1
158.7APC, BMPR1A, SMAD4, SMAD9
168.6APC, PTEN, SMAD4, STK11, TGFB1
178.5ENG, SMAD4, SMAD9, TGFB1
188.5ENG, SMAD4, SMAD9, TGFB1
19
Show member pathways
8.1APC, BMPR1A, SMAD4, SMAD9, TGFB1
208.1APC, ENG, SMAD4, SMAD9, TGFB1
21
Show member pathways
7.5APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11

GO Terms for genes affiliated with Polyposis, Juvenile Intestinal

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

idNameGO IDScoreTop Affiliating Genes
1SMAD protein complexGO:007114110.1SMAD4, SMAD9
2nucleoplasmGO:00056547.5APC, ENG, MUTYH, PTEN, SMAD4, SMAD9

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1endocardial cushion morphogenesisGO:000320310.4BMPR1A, ENG
2response to transforming growth factor betaGO:007155910.4ENG, SMAD4
3regulation of bindingGO:005109810.3SMAD4, TGFB1
4positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.3SMAD4, STK11
5SMAD protein complex assemblyGO:000718310.3SMAD4, TGFB1
6positive regulation of BMP signaling pathwayGO:003051310.3ENG, SMAD4
7positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.3BMPR1A, TGFB1
8positive regulation of bone mineralizationGO:003050110.3BMPR1A, TGFB1
9protein kinase B signalingGO:004349110.2PTEN, TGFB1
10positive regulation of protein localization to nucleusGO:190018210.2STK11, TGFB1
11developmental growthGO:004858910.1BMPR1A, SMAD4
12positive regulation of epithelial to mesenchymal transitionGO:001071810.1SMAD4, TGFB1
13positive regulation of collagen biosynthetic processGO:003296710.1ENG, TGFB1
14negative regulation of phagocytosisGO:005076510.1PTEN, TGFB1
15ventricular trabecula myocardium morphogenesisGO:000322210.0BMPR1A, ENG
16dorsal aorta morphogenesisGO:003591210.0BMPR1A, ENG
17positive regulation of SMAD protein import into nucleusGO:00603919.9BMPR1A, SMAD4, TGFB1
18canonical Wnt signaling pathwayGO:00600709.8APC, PTEN, STK11
19endoderm developmentGO:00074929.8BMPR1A, SMAD4, TGFB1
20positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:19015229.7SMAD4, SMAD9
21regulation of transforming growth factor beta receptor signaling pathwayGO:00170159.7ENG, SMAD4, TGFB1
22cell cycle arrestGO:00070509.5APC, STK11, TGFB1
23positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMPR1A, ENG, SMAD4, TGFB1
24SMAD protein signal transductionGO:00603959.4SMAD4, SMAD9, TGFB1
25cellular response to BMP stimulusGO:00717739.4BMPR1A, SMAD4, SMAD9
26cell migrationGO:00164779.3APC, PTEN, TGFB1
27negative regulation of cell growthGO:00303089.2SMAD4, STK11, TGFB1
28transforming growth factor beta receptor signaling pathwayGO:00071799.1BMPR1A, SMAD4, SMAD9, TGFB1
29BMP signaling pathwayGO:00305099.0BMPR1A, ENG, SMAD4, SMAD9
30protein phosphorylationGO:00064688.8BMPR1A, SMAD9, STK11, TGFB1
31negative regulation of cell proliferationGO:00082858.6APC, PTEN, SMAD4, STK11, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activityGO:00517179.9MINPP1, PTEN
2type II transforming growth factor beta receptor bindingGO:00051149.6ENG, TGFB1
3type I transforming growth factor beta receptor bindingGO:00347139.5ENG, TGFB1

Sources for Polyposis, Juvenile Intestinal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet