MCID: PLY056
MIFTS: 50

Polyposis, Juvenile Intestinal malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Polyposis, Juvenile Intestinal

About this section

Aliases & Descriptions for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 49
Juvenile Polyposis Syndrome 10 21 45 22 23 47 12 51 67 24 65
Jps 45 22 23 51 67
Juvenile Intestinal Polyposis 45 23 51 67
Jip 45 23 51 67
Juvenile Polyposis Coli 22 24 65
 
Juvenile Polyposis Syndrome, Infantile Form 49 11
Juvenile Gastrointestinal Polyposis 51 65
Polyposis Familial of Entire Gastrointestinal Tract 45
Polyposis Juvenile Intestinal 45
Pji 45

Characteristics:

Orphanet epidemiological data:

51
juvenile polyposis syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,All ages,Childhood,Infancy

HPO:

61
polyposis, juvenile intestinal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 174900
Disease Ontology10 DOID:0050787
Orphanet51 2929
ICD10 via Orphanet28 D12.6
UMLS65 C0345893, C1868081, C4025294

Summaries for Polyposis, Juvenile Intestinal

About this section
NIH Rare Diseases:45 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 generalized juvenile polyposis/juvenile polyposis coli and prosthetic joint infection, 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 Heart Development and LKB1 signaling events. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are integument and limbs/digits/tail.

Disease Ontology:10 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:67 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:23 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:49 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

About this section

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1generalized juvenile polyposis/juvenile polyposis coli12.2
2prosthetic joint infection11.0
3juvenile polyposis of infancy11.0
4juvenile overlap myositis10.5BMPR1A, SMAD4
5braf-related cardiofaciocutaneous syndrome10.5BMPR1A, SMAD4
6protein r deficiency10.5BMPR1A, SMAD4
7distal 10q deletion syndrome10.5BMPR1A, PTEN
8familial drusen10.5BMPR1A, PTEN
9peritoneal serous papillary adenocarcinoma10.4BMPR1A, PTEN
10cowden syndrome 610.4BMPR1A, PTEN
11pyomyositis10.4BMPR1A, SMAD4
12retinitis pigmentosa 3110.4PTEN, SMAD4
13colon mucinous adenocarcinoma10.3APC, STK11
14meningitis and encephalitis10.2PTEN, STK11
15atypical mole syndrome10.2APC, MUTYH
16familial congenital fourth cranial nerve palsy10.2APC, MUTYH
17mismatch repair cancer syndrome10.2APC, PTEN
18spondyloepimetaphyseal dysplasia, sponastrime type10.2PTEN, STK11
19gastric cancer, somatic10.1APC, MUTYH
20biliary tract neoplasm10.1APC, MUTYH
21bleeding disorder, platelet-type, 1310.1PTEN, SMAD4, STK11
22ulnar neuropathy10.1APC, MUTYH
23microphthalmia, syndromic 410.1PTEN, STK11
24dubin-johnson syndrome10.1PTEN, STK11
25hereditary hemorrhagic telangiectasia10.1
26pancreatic cancer10.0
27juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.0
28duodenum cancer10.0
29desmoid disease, hereditary10.0APC, MUTYH
30myh9-related disorders9.9APC, MUTYH, SMAD4
31esophagitis9.9
32hereditary spherocytosis9.9
33non-invasive bladder urothelial carcinoma9.9APC, MUTYH, SMAD4
34tenosynovitis of foot and ankle9.9APC, MUTYH, PTEN
35cronkhite-canada syndrome9.8
36organ system benign neoplasm9.8APC, MUTYH
37colorectal cancer9.8
38bannayan-riley-ruvalcaba syndrome9.8
39peutz-jeghers syndrome9.8
40gastric cancer9.8
41protein-losing enteropathy9.8
42adenocarcinoma9.8
43aortic disease9.8
44achalasia9.8
45ruvalcaba syndrome9.8
46common variable immunodeficiency9.6APC, MUTYH
47glioma susceptibility 29.6BMPR1A, MINPP1, PTEN, SMAD4
48cerebellar liponeurocytoma9.0BMPR1A, JPH1, PTEN, SMAD4, STK11
49hyperinsulinism-hyperammonemia syndrome7.0APC, BMPR1A, JPH1, MINPP1, MUTYH, PTEN

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



Diseases related to polyposis, juvenile intestinal

Symptoms for Polyposis, Juvenile Intestinal

About this section

Symptoms by clinical synopsis from OMIM:

174900

Clinical features from OMIM:

174900

Symptoms:

 51 (show all 28)
  • intestinal/colonic anomaly
  • polyposis of the bowel/colon/intestine
  • anus/rectum anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • autosomal dominant inheritance
  • anaemia
  • colon neoplasm/tumor/carcinoma/cancer
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hypertelorism
  • polydactyly of toes
  • telangiectasiae of the skin
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • stomach/gastric anomaly
  • intestinal/bowel fistulae
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • lymphedema
  • renal/kidney anomalies
  • uterine/uterus/fallopian tubes anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • communicating hydrocephaly
  • anomalies of bones/skeletal anomalies
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • failure to thrive/difficulties for feeding in infancy/growth delay

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 multiple gastric polyps common (75%) HP:0004394
5 abdominal pain common (75%) HP:0002027
6 diarrhea common (75%) HP:0002014
7 anemia common (75%) HP:0001903
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 duodenal adenocarcinoma occasional (7.5%) HP:0006771
13 intussusception occasional (7.5%) HP:0002576
14 hematochezia occasional (7.5%) HP:0002573
15 rectal prolapse occasional (7.5%) HP:0002035
16 clubbing occasional (7.5%) HP:0001217
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 hypoalbuminemia HP:0003073
35 hypokalemia HP:0002900

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

About this section

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

About this section

Genetic tests related to Polyposis, Juvenile Intestinal:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome22 SMAD4

Anatomical Context for Polyposis, Juvenile Intestinal

About this section

MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

33
Colon, Small intestine, Pancreas, Heart, Smooth muscle, Brain, Skin

Animal Models for Polyposis, Juvenile Intestinal or affiliated genes

About this section

MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9APC, BMPR1A, PTEN, SMAD4, STK11
2MP:00053718.8APC, BMPR1A, PTEN, SMAD4, SMAD9
3MP:00053828.6APC, BMPR1A, SMAD4, SMAD9, STK11
4MP:00053808.5APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
5MP:00053898.4APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
6MP:00053858.1APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
7MP:00020067.9APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
8MP:00028737.8APC, BMPR1A, MINPP1, PTEN, SMAD4, SMAD9
9MP:00036317.8APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
10MP:00053867.5APC, BMPR1A, JPH1, PTEN, SMAD4, SMAD9
11MP:00053697.4APC, BMPR1A, JPH1, PTEN, SMAD4, SMAD9
12MP:00107686.8APC, BMPR1A, JPH1, MUTYH, PTEN, SMAD4

Publications for Polyposis, Juvenile Intestinal

About this section

Variations for Polyposis, Juvenile Intestinal

About this section

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

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1BMPR1Ap.Cys124ArgVAR_015533
2BMPR1Ap.Ala338AspVAR_015534
3BMPR1Ap.Cys376TyrVAR_015535
4BMPR1Ap.Tyr62AspVAR_022828
5BMPR1Ap.Cys82TyrVAR_022829
6BMPR1Ap.Cys130ArgVAR_022830
7BMPR1Ap.Arg443CysVAR_022831rs35619497
8BMPR1Ap.Met470ThrVAR_022832
9SMAD4p.Gly352ArgVAR_019571rs121912581
10SMAD4p.Arg361CysVAR_019572rs80338963
11SMAD4p.Glu330GlyVAR_022833rs281875324

Clinvar genetic disease variations for Polyposis, Juvenile Intestinal:

5 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1245_1248delCAGA (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593494: 48593497
2SMAD4NM_005359.5(SMAD4): c.1547dupA (p.Ser517Glufs)duplicationPathogenicrs587783060GRCh38Chr 18, 51078355: 51078355
3SMAD4NM_005359.5(SMAD4)insertionPathogenicrs786204125GRCh38Chr 18, 51076682: 51076683
4BMPR1ANM_004329.2(BMPR1A): c.243_247delTTGCT (p.Phe83Hisfs)deletionPathogenicrs786204187GRCh37Chr 10, 88651896: 88651900
5SMAD4NM_005359.5(SMAD4): c.(?_-1)_(*1_?)deldeletionPathogenic
6SMAD4NM_005359.5(SMAD4): c.1142T> A (p.Leu381Ter)single nucleotide variantPathogenicrs863224507GRCh38Chr 18, 51067021: 51067021
7SMAD4NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)deldeletionPathogenicGRCh38Chr 18, 51013658: 51078467
8SMAD4NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
9SMAD4NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
10SMAD4NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)single nucleotide variantPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
11SMAD4NM_005359.5(SMAD4): c.425-6A> Gsingle nucleotide variantPathogenicrs377767327GRCh37Chr 18, 48575659: 48575659
12SMAD4NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
13SMAD4NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)single nucleotide variantPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
14SMAD4NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
15SMAD4NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)single nucleotide variantPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
16SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
17SMAD4NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
18SMAD4NM_005359.5(SMAD4): c.668-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584495: 48604837
19SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584519
20SMAD4NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
21SMAD4NM_005359.5(SMAD4): c.788-?_1659+?deldeletionPathogenicGRCh37Chr 18, 48584710: 48604837
22SMAD4NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584753: 48584754
23SMAD4NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
24SMAD4NM_005359.5(SMAD4): c.970T> C (p.Cys324Arg)single nucleotide variantPathogenicrs377767339GRCh37Chr 18, 48591807: 48591807
25SMAD4NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
26SMAD4NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591819
27SMAD4NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
28SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)single nucleotide variantLikely pathogenic, Pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
29SMAD4NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
30SMAD4NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
31SMAD4NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)single nucleotide variantPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
32SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)single nucleotide variantPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
33SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
34SMAD4NM_005359.5(SMAD4): c.1139+1G> Asingle nucleotide variantPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
35SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)single nucleotide variantPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
36SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)single nucleotide variantPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
37SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)single nucleotide variantPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
38SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)single nucleotide variantPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
39SMAD4NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
40SMAD4NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh37Chr 18, 48593517: 48593517
41SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
42SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
43SMAD4NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
44SMAD4NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
45SMAD4NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
46SMAD4NM_005359.5(SMAD4): c.1411_1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
47SMAD4NM_005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
48SMAD4NM_005359.5(SMAD4): c.1472G> T (p.Gly491Val)single nucleotide variantPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
49SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)single nucleotide variantPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
50SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)single nucleotide variantPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
51SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)single nucleotide variantPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
52SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)single nucleotide variantPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
53SMAD4NM_005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
54SMAD4NM_005359.5(SMAD4): c.1547_1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
55SMAD4NM_005359.5(SMAD4): c.1564_1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
56SMAD4NM_005359.5(SMAD4): c.1571G> T (p.Trp524Leu)single nucleotide variantPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
57SMAD4NM_005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604765
58SMAD4NM_005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
59SMAD4NM_005359.5(SMAD4): c.1597C> G (p.Leu533Val)single nucleotide variantPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
60SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604785
61SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)single nucleotide variantPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
62SMAD4NM_005359.5(SMAD4): c.424+1G> Asingle nucleotide variantPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
63SMAD4NM_005359.5(SMAD4): c.189_197delAAATGGAGCins44 (p.?)indelPathogenicrs672601247GRCh37Chr 18, 48573605: 48573613
64BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
65BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
66BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)single nucleotide variantPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
67BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
68BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)single nucleotide variantPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
69BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)single nucleotide variantLikely pathogenic, Pathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
70BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)single nucleotide variantPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
71BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)single nucleotide variantPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
72SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
73SMAD4SMAD4, 2-BP DELdeletionPathogenic
74SMAD4SMAD4, 1-BP INSinsertionPathogenic
75SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
76SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenic

Cosmic variations for Polyposis, Juvenile Intestinal:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM18711APClarge intestine,colon,other,juvenile polyp8
2COSM18713APClarge intestine,colon,other,juvenile polyp8
3COSM18714APClarge intestine,colon,other,juvenile polyp8
4COSM18717APClarge intestine,colon,other,juvenile polyp8
5COSM18712APClarge intestine,colon,other,juvenile polyp8
6COSM44603TP53large intestine,colon,other,hamartoma6

Expression for genes affiliated with Polyposis, Juvenile Intestinal

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

Pathways for genes affiliated with Polyposis, Juvenile Intestinal

About this section

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.8BMPR1A, SMAD4
29.7SMAD4, STK11
39.6APC, PTEN
4
Show member pathways
9.6SMAD4, SMAD9
59.6SMAD4, SMAD9
69.6SMAD4, SMAD9
7
Show member pathways
9.4PTEN, SMAD4, STK11
89.4APC, BMPR1A, SMAD4
9
Show member pathways
9.3APC, PTEN, SMAD4
10
Show member pathways
9.3APC, PTEN, SMAD4
11
Show member pathways
9.3BMPR1A, SMAD4, SMAD9
12
Show member pathways
9.3BMPR1A, SMAD4, SMAD9
139.3BMPR1A, SMAD4, SMAD9
14
Show member pathways
9.2APC, PTEN, STK11
159.0BMPR1A, PTEN, SMAD4, STK11
168.9APC, PTEN, SMAD4, STK11
17
Show member pathways
8.8APC, BMPR1A, SMAD4, SMAD9
188.8APC, BMPR1A, SMAD4, SMAD9

GO Terms for genes affiliated with Polyposis, Juvenile Intestinal

About this section

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:004273310.1BMPR1A, SMAD4
2pattern specification processGO:00073899.8APC, BMPR1A
3transforming growth factor beta receptor signaling pathwayGO:00071799.6SMAD4, SMAD9
4palate developmentGO:00600219.5BMPR1A, SMAD4
5BMP signaling pathwayGO:00305099.4BMPR1A, SMAD4, SMAD9
6cellular response to BMP stimulusGO:00717739.4BMPR1A, SMAD4, SMAD9

Sources for Polyposis, Juvenile Intestinal

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet