MCID: PLY056
MIFTS: 54

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 50
Juvenile Polyposis Syndrome 50 11 22 46 23 24 13 52 68 25 48 66
Jps 46 23 24 52 68
Juvenile Intestinal Polyposis 46 24 52 68
Jip 46 24 52 68
Juvenile Gastrointestinal Polyposis 52 25 66
 
Juvenile Polyposis Coli 23 25 66
Juvenile Polyposis Syndrome, Infantile Form 50 12
Generalized Juvenile Polyposis/juvenile Polyposis Coli 52
Polyposis Familial of Entire Gastrointestinal Tract 46
Polyposis Juvenile Intestinal 46
Pji 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
polyposis, juvenile intestinal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 174900
Disease Ontology11 DOID:0050787
ICD10 via Orphanet29 D12.6

Summaries for Polyposis, Juvenile Intestinal

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NIH Rare Diseases:46 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 chromosome 10q23 deletion syndrome juvenile polyposis of infancy, included, 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 renal/urinary system.

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.

UniProtKB/Swiss-Prot:68 Juvenile polyposis syndrome: Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.

Genetics Home Reference:24 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:50 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...

GeneReviews summary 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer27.3APC, ENG, MUTYH, PTEN, SMAD4, STK11
2chromosome 10q23 deletion syndrome juvenile polyposis of infancy, included11.0
3prosthetic joint infection11.0
4braf-related leopard syndrome10.6BMPR1A, SMAD4
5macular dystrophy, retinal, 1, north carolina type10.5BMPR1A, PTEN
6autosomal recessive optic atrophy, opa8 type10.5BMPR1A, SMAD4
7chromosome 15q24 deletion syndrome10.5BMPR1A, PTEN
8atrial septal defect coronary sinus10.5BMPR1A, SMAD4
9vhl-related pheochromocytoma10.5ENG, SMAD4
10polysyndactyly with cardiac malformation10.5BMPR1A, PTEN
11glioma susceptibility 210.3BMPR1A, PTEN, SMAD4
12eosinophilic meningitis10.2ENG, TGFB1
13acquired amegakaryocytic thrombocytopenia10.2APC, MUTYH
14contagious pustular dermatitis10.2BMPR1A, SMAD4
15colver steer godman syndrome10.2APC, MUTYH
16mucinous adenocarcinoma10.2APC, SMAD4, STK11
17hereditary hemorrhagic telangiectasia10.1
18malignant hyperthermia susceptibility10.1APC, MUTYH, SMAD4
19hereditary essential tremor 510.0APC, MUTYH
20nephropathy familial with hyperuricemia10.0SMAD4, TGFB1
21pancreatic cancer10.0
22juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.0
23duodenum cancer10.0
24multiple epiphyseal dysplasia10.0ENG, SMAD4, TGFB1
25gastric cancer, somatic10.0APC, MUTYH
26gynecomastia10.0MUTYH, TGFB1
27holoprosencephaly10.0ENG, SMAD4, TGFB1
28bannayan-riley-ruvalcaba syndrome9.9
29ruvalcaba syndrome9.9
30esophagitis9.9
31hereditary spherocytosis9.9
32herpes simplex encephalitic 69.9APC, PTEN, SMAD4, STK11
33homocystinuria caused by cystathionine beta-synthase deficiency9.8ENG, SMAD9
34arrhythmogenic right ventricular cardiomyopathy9.8APC, BMPR1A, MUTYH, SMAD4
35peutz-jeghers syndrome9.8
36gastric cancer9.8
37chromosome 10q23 deletion syndrome9.8
38protein-losing enteropathy9.8
39adenocarcinoma9.8
40aortic disease9.8
41achalasia9.8
42lipoma of the rectum9.6BMPR1A, JPH1, PTEN, STK11
43gallbladder papillomatosis9.6MUTYH, PTEN, SMAD4, TGFB1
44muscular dystrophy-dystroglycanopathy , type a, 29.4APC, MUTYH, PTEN, TGFB1
45tumor predisposition syndrome9.1APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
46breast cancer8.4APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
47glomerulosclerosis, focal segmental, 76.4APC, 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

HPO human phenotypes related to Polyposis, Juvenile Intestinal:

(show all 35)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 gastrointestinal hemorrhage hallmark (90%) HP:0002239
3 intestinal polyposis hallmark (90%) HP:0200008
4 anemia common (75%) HP:0001903
5 diarrhea common (75%) HP:0002014
6 abdominal pain common (75%) HP:0002027
7 multiple gastric polyps common (75%) HP:0004394
8 anemia typical (50%) HP:0001903
9 neoplasm of the colon typical (50%) HP:0100273
10 failure to thrive frequent (33%) HP:0001508
11 colon cancer 20% HP:0003003
12 clubbing occasional (7.5%) HP:0001217
13 rectal prolapse occasional (7.5%) HP:0002035
14 hematochezia occasional (7.5%) HP:0002573
15 intussusception occasional (7.5%) HP:0002576
16 duodenal adenocarcinoma occasional (7.5%) HP:0006771
17 abnormality of female internal genitalia occasional (7.5%) HP:0000008
18 cryptorchidism occasional (7.5%) HP:0000028
19 abnormality of the kidney occasional (7.5%) HP:0000077
20 macrocephaly occasional (7.5%) HP:0000256
21 hypertelorism occasional (7.5%) HP:0000316
22 lymphedema occasional (7.5%) HP:0001004
23 communicating hydrocephalus occasional (7.5%) HP:0001334
24 atria septal defect occasional (7.5%) HP:0001631
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 patent ductus arteriosus occasional (7.5%) HP:0001643
27 abnormality of the aorta occasional (7.5%) HP:0001679
28 foot polydactyly occasional (7.5%) HP:0001829
29 abnormality of the stomach occasional (7.5%) HP:0002577
30 neoplasm of the pancreas occasional (7.5%) HP:0002894
31 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
32 telangiectasia of the skin occasional (7.5%) HP:0100585
33 intestinal fistula occasional (7.5%) HP:0100819
34 hypokalemia HP:0002900
35 hypoalbuminemia HP:0003073

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Hereditary Colorectal and Associated Tumor Registry StudyRecruitingNCT00633607
2French 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

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 Syndrome25 23 SMAD4
2 Juvenile Polyposis Coli25
3 Juvenile Gastrointestinal Polyposis25

Anatomical Context for Polyposis, Juvenile Intestinal

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MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

34
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:

39 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1APC, PTEN, SMAD4, STK11, TGFB1
2MP:00053678.7APC, PTEN, SMAD4, STK11, TGFB1
3MP:00053818.5APC, ENG, PTEN, SMAD4, STK11, TGFB1
4MP:00107718.4APC, BMPR1A, ENG, PTEN, SMAD4, STK11
5MP:00053798.4APC, BMPR1A, PTEN, SMAD4, STK11, TGFB1
6MP:00053978.3APC, BMPR1A, ENG, PTEN, SMAD4, STK11
7MP:00053888.2BMPR1A, ENG, PTEN, SMAD9, STK11, TGFB1
8MP:00053718.0APC, BMPR1A, PTEN, SMAD4, SMAD9
9MP:00053877.9APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
10MP:00053827.9APC, BMPR1A, ENG, SMAD4, SMAD9, STK11
11MP:00053897.9APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
12MP:00053907.8APC, BMPR1A, PTEN, SMAD4, SMAD9, TGFB1
13MP:00053807.5APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
14MP:00020067.4APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
15MP:00053767.4APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
16MP:00028737.3APC, BMPR1A, ENG, MINPP1, PTEN, SMAD4
17MP:00053857.3APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
18MP:00053787.2APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
19MP:00053696.9APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
20MP:00036316.9APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
21MP:00053866.5APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
22MP:00107686.3APC, 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:

68 (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)single nucleotide variantPathogenicrs587782400GRCh37Chr 10, 88677032: 88677032
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_?)deldeletionPathogenic
7SMAD4NM_005359.5(SMAD4): c.1142T> A (p.Leu381Ter)single nucleotide variantPathogenicrs863224507GRCh38Chr 18, 51067021: 51067021
8BMPR1ANM_004329.2(BMPR1A): c.-152-?_*1469+?deldeletionPathogenic
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)single nucleotide variantPathogenicrs878854769GRCh37Chr 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)single nucleotide variantPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
16SMAD4NM_005359.5(SMAD4): c.425-6A> Gsingle nucleotide variantPathogenicrs377767327GRCh37Chr 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)single nucleotide variantPathogenicrs377767329GRCh37Chr 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)single nucleotide variantPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
21SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs377767332GRCh37Chr 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)single nucleotide variantPathogenicrs377767339GRCh37Chr 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)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
33SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
37SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)single nucleotide variantPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
38SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
39SMAD4NM_005359.5(SMAD4): c.1139+1G> Asingle nucleotide variantPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
40SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)single nucleotide variantPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
41SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)single nucleotide variantPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
42SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)single nucleotide variantPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
43SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)single nucleotide variantPathogenicrs121912577GRCh37Chr 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)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
47SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicrs377767361GRCh37Chr 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)single nucleotide variantPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
54SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)single nucleotide variantPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
55SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)single nucleotide variantPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
56SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)single nucleotide variantPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
57SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)single nucleotide variantPathogenicrs377767371GRCh37Chr 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)single nucleotide variantPathogenicrs377767375GRCh37Chr 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)single nucleotide variantPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
65SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604785
66SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)single nucleotide variantPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
67SMAD4NM_005359.5(SMAD4): c.424+1G> Asingle nucleotide variantPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
68SMAD4NM_005359.5(SMAD4): c.189_197delAAATGGAGCins44 (p.?)indelPathogenicrs672601247GRCh37Chr 18, 48573605: 48573613
69BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
70BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
71BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)single nucleotide variantPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
72BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
73BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)single nucleotide variantPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
74BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
75BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)single nucleotide variantPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
76BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)single nucleotide variantPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
77SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
78SMAD4SMAD4, 2-BP DELdeletionPathogenic
79SMAD4SMAD4, 1-BP INSinsertionPathogenic
80SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
81SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenic

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 24)
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
9
Show member pathways
9.0BMPR1A, ENG, SMAD4, TGFB1
109.0APC, BMPR1A, SMAD4, TGFB1
119.0ENG, SMAD4, STK11, TGFB1
128.9APC, PTEN, SMAD4, TGFB1
13
Show member pathways
8.9APC, PTEN, SMAD4, TGFB1
14
Show member pathways
8.9APC, PTEN, SMAD4, TGFB1
15
Show member pathways
8.8SMAD4, SMAD9, TGFB1
16
Show member pathways
8.8SMAD4, SMAD9, TGFB1
178.7APC, BMPR1A, SMAD4, SMAD9
188.6APC, PTEN, SMAD4, STK11, TGFB1
19
Show member pathways
8.5BMPR1A, SMAD4, SMAD9, TGFB1
208.5ENG, SMAD4, SMAD9, TGFB1
218.5ENG, SMAD4, SMAD9, TGFB1
22
Show member pathways
8.1APC, BMPR1A, SMAD4, SMAD9, TGFB1
238.1APC, ENG, SMAD4, SMAD9, TGFB1
24
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
4SMAD protein complex assemblyGO:000718310.3SMAD4, TGFB1
5positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.3SMAD4, STK11
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
9developmental growthGO:004858910.2BMPR1A, SMAD4
10protein kinase B signalingGO:004349110.2PTEN, TGFB1
11positive regulation of protein localization to nucleusGO:190018210.2STK11, TGFB1
12negative regulation of phagocytosisGO:005076510.1PTEN, TGFB1
13positive regulation of epithelial to mesenchymal transitionGO:001071810.1SMAD4, TGFB1
14positive regulation of collagen biosynthetic processGO:003296710.1ENG, TGFB1
15ventricular trabecula myocardium morphogenesisGO:000322210.1BMPR1A, ENG
16dorsal aorta morphogenesisGO:003591210.0BMPR1A, ENG
17positive regulation of SMAD protein import into nucleusGO:00603919.8BMPR1A, SMAD4, TGFB1
18endoderm developmentGO:00074929.7BMPR1A, SMAD4, TGFB1
19regulation of transforming growth factor beta receptor signaling pathwayGO:00170159.6ENG, SMAD4, TGFB1
20negative regulation of cell growthGO:00303089.6SMAD4, STK11, TGFB1
21canonical Wnt signaling pathwayGO:00600709.6APC, PTEN, STK11
22cell cycle arrestGO:00070509.6APC, STK11, TGFB1
23positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5BMPR1A, ENG, SMAD4, TGFB1
24positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:19015229.4SMAD4, SMAD9
25SMAD protein signal transductionGO:00603959.4SMAD4, SMAD9, TGFB1
26cellular response to BMP stimulusGO:00717739.2BMPR1A, SMAD4, SMAD9
27transforming growth factor beta receptor signaling pathwayGO:00071799.1BMPR1A, SMAD4, SMAD9, TGFB1
28cell migrationGO:00164778.9APC, PTEN, TGFB1
29BMP signaling pathwayGO:00305098.8BMPR1A, ENG, SMAD4, SMAD9
30negative regulation of cell proliferationGO:00082858.6APC, PTEN, SMAD4, STK11, TGFB1
31protein phosphorylationGO:00064688.4BMPR1A, SMAD9, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet