JPS
MCID: PLY056
MIFTS: 54

Polyposis, Juvenile Intestinal (JPS) 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 52
Juvenile Polyposis Syndrome 52 11 23 48 24 25 54 70 27 50 13 68
Jps 48 24 25 54 70
Juvenile Intestinal Polyposis 48 25 54 70
Jip 48 25 54 70
Juvenile Gastrointestinal Polyposis 54 27 68
 
Juvenile Polyposis Syndrome, Infantile Form 52 12
Juvenile Polyposis Coli 24 68
Generalized Juvenile Polyposis/juvenile Polyposis Coli 54
Polyposis Familial of Entire Gastrointestinal Tract 48
Polyposis Juvenile Intestinal 48
Pji 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
polyposis, juvenile intestinal:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
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:



External Ids:

OMIM52 174900
Disease Ontology11 DOID:0050787
ICD10 via Orphanet31 D12.6

Summaries for Polyposis, Juvenile Intestinal

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NIH Rare Diseases:48 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 prosthetic joint infection, and has symptoms including clubbing, failure to thrive and anemia. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways are Hypothesized Pathways in Pathogenesis of Cardiovascular Disease and Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex. Affiliated tissues include colon, small intestine and pancreas, and related mouse phenotypes are Decreased sensitivity to paclitaxel and Increased mitotic index.

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

UniProtKB/Swiss-Prot:70 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer28.4APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
2prosthetic joint infection11.8
3pancreatic cancer10.9
4juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10.9
5duodenum cancer10.9
6chromosome 10q23 deletion syndrome juvenile polyposis of infancy, included10.9
7chromosome 16p12.1 deletion syndrome, 520kb10.3BMPR1A, PTEN
8c5orf42-related joubert syndrome10.3BMPR1A, SMAD4
9rhizomelic dysplasia, patterson-lowry type10.2BMPR1A, PTEN
10pseudoainhum10.2BMPR1A, SMAD4
11hypothalamic adipsic hypernatraemia syndrome10.2BMPR1A, SMAD4
12bronchogenic cyst10.2APC, PTEN
13bronchiectasis oligospermia10.2APC, PTEN
14x-linked leigh syndrome10.2ENG, SMAD4
15pierre robin syndrome and oligodactyly10.1BMPR1A, PTEN, SMAD4
16macrocephaly/autism syndrome10.1BMPR1A, PTEN, SMAD4
17epididymis cancer10.1ENG, TGFB1
18htr2a-related altered drug metabolism10.1APC, MUTYH
19retinal degeneration10.1ENG, STK11
20infantile thalamic degeneration10.1APC, MUTYH
21submucosal invasive colon adenocarcinoma10.1APC, SMAD4, STK11
22porencephaly, cerebellar hypoplasia, and internal malformations10.1BMPR1A, PTEN
23mitochondrial neurogastrointestinal encephalopathy disease10.1APC, MUTYH, SMAD4
24familial hypopituitarism10.1APC, MUTYH, SMAD4
25respiratory syncytial virus infectious disease10.1ENG, SMAD4, TGFB1
26hereditary sensory and autonomic neuropathy with deafness and global delay10.1APC, BMPR1A, MUTYH
27human venous malformation10.0ENG, SMAD4, TGFB1
28glioma susceptibility 210.0JPH1, PTEN
29pituitary infarct10.0ENG, PTEN, TGFB1
30autoimmune autonomic ganglionopathy10.0APC, MUTYH
31childhood teratocarcinoma of the testis10.0BMPR1A, PTEN, SMAD4, STK11
32herpes simplex encephalitic 610.0APC, PTEN, SMAD4, STK11
33hereditary hemorrhagic telangiectasia10.0
34proctitis9.9MUTYH, PTEN, SMAD4, TGFB1
35bannayan-riley-ruvalcaba syndrome9.8
36ruvalcaba syndrome9.8
37esophagitis9.8
38joubert syndrome and related disorders9.8ENG, SMAD9
39hereditary spherocytosis9.8
40sydenham chorea9.7ENG, SMAD4, SMAD9, TGFB1
41muscular dystrophy-dystroglycanopathy , type b, 29.7APC, MUTYH, PTEN, SMAD4, TGFB1
42peutz-jeghers syndrome9.7
43gastric cancer9.7
44chromosome 10q23 deletion syndrome9.7
45protein-losing enteropathy9.7
46adenocarcinoma9.7
47aortic disease9.7
48achalasia9.7
49glomerulosclerosis, focal segmental, 78.6APC, BMPR1A, ENG, JPH1, MINPP1, MUTYH

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



Diseases related to polyposis, juvenile intestinal

Symptoms & Phenotypes 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:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 clubbing64 HP:0001217
2 failure to thrive64 HP:0001508
3 anemia64 HP:0001903
4 abdominal pain64 HP:0002027
5 rectal prolapse64 HP:0002035
6 hematochezia64 HP:0002573
7 intussusception64 HP:0002576
8 hypokalemia64 HP:0002900
9 colon cancer64 HP:0003003
10 hypoalbuminemia64 HP:0003073
11 multiple gastric polyps64 HP:0004394
12 duodenal adenocarcinoma64 HP:0006771

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00112-A-010.7PTEN, SMAD4
2GR00110-A-010.4BMPR1A, SMAD4, STK11
3GR00210-A9.4APC, BMPR1A, MINPP1, PTEN, STK11

MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.4APC, PTEN, SMAD4, STK11, TGFB1
2MP:00053679.3APC, PTEN, SMAD4, STK11, TGFB1
3MP:00053719.2APC, BMPR1A, PTEN, SMAD4, SMAD9
4MP:00053819.1APC, ENG, PTEN, SMAD4, STK11, TGFB1
5MP:00107718.8APC, BMPR1A, ENG, PTEN, SMAD4, STK11
6MP:00053828.3APC, BMPR1A, ENG, SMAD4, SMAD9, STK11
7MP:00053898.1APC, BMPR1A, PTEN, SMAD4, SMAD9, STK11
8MP:00053858.0APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
9MP:00053808.0APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
10MP:00053788.0APC, BMPR1A, ENG, PTEN, SMAD4, SMAD9
11MP:00028737.9APC, BMPR1A, ENG, MINPP1, PTEN, SMAD4
12MP:00053887.8BMPR1A, ENG, PTEN, SMAD9, STK11, TGFB1
13MP:00020067.8APC, BMPR1A, MUTYH, PTEN, SMAD4, SMAD9
14MP:00036317.4APC, BMPR1A, ENG, MUTYH, PTEN, SMAD4
15MP:00053867.3APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
16MP:00053697.3APC, BMPR1A, ENG, JPH1, PTEN, SMAD4
17MP:00107686.9APC, BMPR1A, ENG, JPH1, MUTYH, PTEN

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
3Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268

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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 Syndrome27 24 SMAD4
2 Juvenile Gastrointestinal Polyposis27

Anatomical Context for Polyposis, Juvenile Intestinal

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MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

36
Colon, Small intestine, Pancreas, Smooth muscle, Heart, Brain

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:

70 (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 97)
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_ 005359.5(SMAD4): c.1245_ 1248delCAGA (p.Asp415Glufs)deletionPathogenicrs80338965GRCh38Chr 18, 51067124: 51067127
2BMPR1ANM_ 004329.2(BMPR1A): c.817C> T (p.Arg273Ter)SNVPathogenicrs587782400GRCh38Chr 10, 86917275: 86917275
3BMPR1ANM_ 004329.2(BMPR1A): c.682C> T (p.Arg228Ter)SNVPathogenicrs587782682GRCh37Chr 10, 88676897: 88676897
4BMPR1ANM_ 004329.2(BMPR1A): c.115_ 116insA (p.Ser39Tyrfs)insertionLikely pathogenicrs587783038GRCh38Chr 10, 86890109: 86890110
5SMAD4NM_ 005359.5(SMAD4): c.1547dupA (p.Ser517Glufs)duplicationPathogenicrs587783060GRCh38Chr 18, 51078355: 51078355
6BMPR1ANM_ 004329.2(BMPR1A): c.1081C> T (p.Arg361Ter)SNVPathogenicrs764466442GRCh37Chr 10, 88679141: 88679141
7SMAD4NM_ 005359.5(SMAD4): c.1353_ 1354insGCTACTGCACAAGCTGCAGCAGCTGCCC (p.Gln461Argfs)insertionPathogenicrs786204125GRCh38Chr 18, 51076682: 51076683
8BMPR1ANM_ 004329.2(BMPR1A): c.243_ 247delTTGCT (p.Phe83Hisfs)deletionPathogenicrs786204187GRCh37Chr 10, 88651896: 88651900
9SMAD4NM_ 005359.5(SMAD4): c.(?_ -1)_ (*1_ ?)deldeletionPathogenic
10SMAD4NM_ 005359.5(SMAD4): c.1142T> A (p.Leu381Ter)SNVPathogenicrs863224507GRCh38Chr 18, 51067021: 51067021
11SMAD4NM_ 005359.5(SMAD4): c.1512delT (p.Phe505Leufs)deletionLikely pathogenicrs864622252GRCh38Chr 18, 51078320: 51078320
12BMPR1ANM_ 004329.2(BMPR1A): c.405dupA (p.Pro136Thrfs)duplicationPathogenicrs876660442GRCh38Chr 10, 86899865: 86899865
13BMPR1ANM_ 004329.2(BMPR1A): c.-152-?_ *1469deldeletionPathogenicGRCh38Chr 10, 86875867: 86925188
14BMPR1ANM_ 004329.2(BMPR1A): c.675+1G> CSNVLikely pathogenicrs878854672GRCh37Chr 10, 88672142: 88672142
15BMPR1ANM_ 004329.2(BMPR1A): c.771delA (p.Val258Trpfs)deletionPathogenicrs878854673GRCh37Chr 10, 88676986: 88676986
16SMAD4NM_ 005359.5(SMAD4): c.1206dupT (p.Ser403Terfs)duplicationPathogenicrs878854765GRCh37Chr 18, 48593455: 48593455
17SMAD4NM_ 005359.5(SMAD4): c.906G> A (p.Trp302Ter)SNVPathogenicrs878854769GRCh37Chr 18, 48586237: 48586237
18SMAD4NM_ 005359.5(SMAD4): c.(?_ -17093)_ (1659_ ?)deldeletionPathogenicGRCh38Chr 18, 51013658: 51078467
19SMAD4NM_ 005359.5(SMAD4): c.373_ 374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
20SMAD4NM_ 005359.5(SMAD4): c.375_ 381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
21SMAD4NM_ 005359.5(SMAD4): c.403C> T (p.Arg135Ter)SNVPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
22SMAD4NM_ 005359.5(SMAD4): c.430_ 431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
23SMAD4NM_ 005359.5(SMAD4): c.437T> A (p.Leu146Ter)SNVPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
24SMAD4NM_ 005359.5(SMAD4): c.516_ 527delGTCCACTGAAGG (p.Ser173_ Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
25SMAD4NM_ 005359.5(SMAD4): c.533C> G (p.Ser178Ter)SNVPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
26SMAD4NM_ 005359.5(SMAD4): c.538C> T (p.Gln180Ter)SNVPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
27SMAD4NM_ 005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
28SMAD4NM_ 005359.5(SMAD4): c.668-?_ 1659+?deldeletionPathogenicGRCh37Chr 18, 48584495: 48604837
29SMAD4NM_ 005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584519
30SMAD4NM_ 005359.5(SMAD4): c.729_ 730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
31SMAD4NM_ 005359.5(SMAD4): c.788-?_ 1659+?deldeletionPathogenicGRCh37Chr 18, 48584710: 48604837
32SMAD4NM_ 005359.5(SMAD4): c.831_ 832delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584753: 48584754
33SMAD4NM_ 005359.5(SMAD4): c.925_ 928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
34SMAD4NM_ 005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
35SMAD4NM_ 005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591819
36SMAD4NM_ 005359.5(SMAD4): c.1081C> A (p.Arg361Ser)SNVPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
37SMAD4NM_ 005359.5(SMAD4): c.989A> G (p.Glu330Gly)SNVPathogenic/ Likely pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
38SMAD4NM_ 005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
39SMAD4NM_ 005359.5(SMAD4): c.1042_ 1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
40SMAD4NM_ 005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)SNVPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
41SMAD4NM_ 005359.5(SMAD4): c.1087T> C (p.Cys363Arg)SNVPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
42SMAD4NM_ 005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
43SMAD4NM_ 005359.5(SMAD4): c.1139+1G> ASNVPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
44SMAD4NM_ 005359.5(SMAD4): c.1162C> T (p.Gln388Ter)SNVPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
45SMAD4NM_ 005359.5(SMAD4): c.1168G> A (p.Glu390Lys)SNVPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
46SMAD4NM_ 005359.5(SMAD4): c.1193G> A (p.Trp398Ter)SNVPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
47SMAD4NM_ 005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)SNVPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
48SMAD4NM_ 005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
49SMAD4NM_ 005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh38Chr 18, 51067147: 51067147
50SMAD4NM_ 005359.5(SMAD4): c.1333C> T (p.Arg445Ter)SNVPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
51SMAD4NM_ 005359.5(SMAD4): c.1342C> T (p.Gln448Ter)SNVPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
52SMAD4NM_ 005359.5(SMAD4): c.1343_ 1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
53SMAD4NM_ 005359.5(SMAD4): c.1361_ 1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
54SMAD4NM_ 005359.5(SMAD4): c.1409_ 1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
55SMAD4NM_ 005359.5(SMAD4): c.1411_ 1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
56SMAD4NM_ 005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
57SMAD4NM_ 005359.5(SMAD4): c.1472G> T (p.Gly491Val)SNVPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
58SMAD4NM_ 005359.5(SMAD4): c.1478A> C (p.Asp493Ala)SNVPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
59SMAD4NM_ 005359.5(SMAD4): c.1525T> A (p.Trp509Arg)SNVPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
60SMAD4NM_ 005359.5(SMAD4): c.1527G> A (p.Trp509Ter)SNVPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
61SMAD4NM_ 005359.5(SMAD4): c.1529G> T (p.Gly510Val)SNVPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
62SMAD4NM_ 005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
63SMAD4NM_ 005359.5(SMAD4): c.1547_ 1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
64SMAD4NM_ 005359.5(SMAD4): c.1564_ 1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
65SMAD4NM_ 005359.5(SMAD4): c.1571G> T (p.Trp524Leu)SNVPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
66SMAD4NM_ 005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604765
67SMAD4NM_ 005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
68SMAD4NM_ 005359.5(SMAD4): c.1597C> G (p.Leu533Val)SNVPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
69SMAD4NM_ 005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604785
70SMAD4NM_ 005359.5(SMAD4): c.1139G> A (p.Arg380Lys)SNVPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
71SMAD4NM_ 005359.5(SMAD4): c.424+1G> ASNVPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
72SMAD4NM_ 005359.5(SMAD4): c.189_ 197delAAATGGAGCins44 (p.?)indelPathogenicrs672601247GRCh37Chr 18, 48573605: 48573613
73SMAD4NM_ 005359.5(SMAD4): c.1096C> T (p.Gln366Ter)SNVPathogenicrs1060500733GRCh38Chr 18, 51065563: 51065563
74SMAD4NM_ 005359.5(SMAD4): c.1198delA (p.Arg400Glyfs)deletionPathogenicrs1060500734GRCh38Chr 18, 51067077: 51067077
75SMAD4NM_ 005359.5(SMAD4): c.263_ 267delAAGGA (p.Lys88Ilefs)deletionPathogenicrs1060500739GRCh38Chr 18, 51048699: 51048703
76SMAD4NM_ 005359.5(SMAD4): c.1447+2T> CSNVLikely pathogenicrs1060500740GRCh38Chr 18, 51076778: 51076778
77SMAD4NM_ 005359.5(SMAD4): c.728_ 735delGGCCTCAG (p.Gly243Alafs)deletionPathogenicrs1060500742GRCh38Chr 18, 51058185: 51058192
78SMAD4NM_ 005359.5(SMAD4): c.1529delG (p.Gly510Aspfs)deletionLikely pathogenicrs1060500744GRCh37Chr 18, 48604707: 48604707
79BMPR1ANM_ 004329.2(BMPR1A): c.213_ 228del16 (p.Ile72Terfs)deletionPathogenicGRCh38Chr 10, 86890207: 86890222
80BMPR1ANM_ 004329.2(BMPR1A): c.917_ 920dupATTT (p.Ile308Phefs)duplicationPathogenicGRCh38Chr 10, 86919220: 86919223
81BMPR1ANM_ 004329.2(BMPR1A): c.934delC (p.His312Metfs)deletionPathogenicrs1060503408GRCh38Chr 10, 86919237: 86919237
82BMPR1ANM_ 004329.2(BMPR1A): c.949_ 952delCTCT (p.Leu317Metfs)deletionPathogenicrs1060503409GRCh38Chr 10, 86919252: 86919255
83BMPR1ANC_ 000010.11: g.(?_ 86838865)_ (86900126_ ?)deldeletionPathogenicGRCh37Chr 10, 88598622: 88659883
84SMAD4NC_ 000018.10: g.(?_ 51067019)_ (51085042_ ?)deldeletionPathogenicGRCh38Chr 18, 51067019: 51085042
85BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
86BMPR1ANM_ 004329.2(BMPR1A): c.715C> T (p.Gln239Ter)SNVPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
87BMPR1ANM_ 004329.2(BMPR1A): c.812G> A (p.Trp271Ter)SNVPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
88BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
89BMPR1ANM_ 004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)SNVPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
90BMPR1ANM_ 004329.2(BMPR1A): c.370T> C (p.Cys124Arg)SNVPathogenic/ Likely pathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
91BMPR1ANM_ 004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)SNVPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
92BMPR1ANM_ 004329.2(BMPR1A): c.1409T> C (p.Met470Thr)SNVPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
93SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
94SMAD4SMAD4, 2-BP DELdeletionPathogenic
95SMAD4SMAD4, 1-BP INSinsertionPathogenic
96SMAD4NM_ 005359.5(SMAD4): c.1081C> T (p.Arg361Cys)SNVPathogenic/ Likely pathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
97SMAD4SMAD4, 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 29)
idSuper pathwaysScoreTop Affiliating Genes
19.9ENG, SMAD4
29.8PTEN, SMAD4
39.7APC, PTEN
4
Show member pathways
9.7SMAD4, TGFB1
59.7SMAD4, TGFB1
69.4SMAD4, SMAD9
7
Show member pathways
9.4BMPR1A, SMAD4, TGFB1
89.3PTEN, SMAD4, TGFB1
99.3APC, SMAD4, TGFB1
109.3APC, SMAD4, TGFB1
119.2BMPR1A, PTEN, SMAD4, STK11
12
Show member pathways
9.1BMPR1A, SMAD4, SMAD9
139.1BMPR1A, SMAD4, SMAD9
14
Show member pathways
9.0APC, BMPR1A, SMAD4, TGFB1
159.0APC, BMPR1A, SMAD4, TGFB1
16
Show member pathways
9.0PTEN, SMAD4, STK11, TGFB1
178.9APC, PTEN, SMAD4, TGFB1
18
Show member pathways
8.9APC, PTEN, SMAD4, TGFB1
198.9APC, PTEN, SMAD4, TGFB1
20
Show member pathways
8.9APC, PTEN, SMAD4, TGFB1
21
Show member pathways
8.8SMAD4, SMAD9, TGFB1
22
Show member pathways
8.8SMAD4, SMAD9, TGFB1
238.7APC, BMPR1A, SMAD4, SMAD9
24
Show member pathways
8.5BMPR1A, SMAD4, SMAD9, TGFB1
258.5ENG, SMAD4, SMAD9, TGFB1
26
Show member pathways
8.5ENG, SMAD4, SMAD9, TGFB1
27
Show member pathways
8.1APC, BMPR1A, SMAD4, SMAD9, TGFB1
288.1APC, ENG, SMAD4, SMAD9, TGFB1
29
Show member pathways
7.4APC, 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:00711419.4SMAD4, SMAD9

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1developmental growthGO:004858910.6BMPR1A, SMAD4
2epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.6ENG, SMAD4
3dorsal aorta morphogenesisGO:003591210.6BMPR1A, ENG
4endocardial cushion morphogenesisGO:000320310.6BMPR1A, ENG
5positive regulation of BMP signaling pathwayGO:003051310.5ENG, SMAD4
6response to transforming growth factor betaGO:007155910.4ENG, SMAD4
7regulation of cardiac muscle cell apoptotic processGO:001066510.4BMPR1A, ENG
8positive regulation of transforming growth factor beta receptor signaling pathwayGO:003051110.4SMAD4, STK11
9cellular response to insulin-like growth factor stimulusGO:199031410.3PTEN, TGFB1
10positive regulation of epithelial to mesenchymal transitionGO:001071810.3SMAD4, TGFB1
11positive regulation of bone mineralizationGO:003050110.3BMPR1A, TGFB1
12positive regulation of collagen biosynthetic processGO:003296710.3ENG, TGFB1
13positive regulation of pri-miRNA transcription from RNA polymerase II promoterGO:190289510.3BMPR1A, TGFB1
14negative regulation of phagocytosisGO:005076510.3PTEN, TGFB1
15regulation of bindingGO:005109810.3SMAD4, TGFB1
16SMAD protein complex assemblyGO:000718310.2SMAD4, TGFB1
17outflow tract septum morphogenesisGO:000314810.2BMPR1A, ENG, SMAD4
18protein kinase B signalingGO:004349110.2PTEN, TGFB1
19positive regulation of protein localization to nucleusGO:190018210.2STK11, TGFB1
20endoderm developmentGO:000749210.1BMPR1A, SMAD4, TGFB1
21canonical Wnt signaling pathwayGO:006007010.1APC, PTEN, STK11
22negative regulation of cell growthGO:003030810.0SMAD4, STK11, TGFB1
23positive regulation of SMAD protein import into nucleusGO:006039110.0BMPR1A, SMAD4, TGFB1
24positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.0SMAD4, SMAD9
25regulation of transforming growth factor beta receptor signaling pathwayGO:00170159.9ENG, SMAD4, TGFB1
26cell migrationGO:00164779.9APC, PTEN, TGFB1
27cell cycle arrestGO:00070509.9APC, STK11, TGFB1
28ventricular trabecula myocardium morphogenesisGO:00032229.9BMPR1A, ENG
29cellular response to BMP stimulusGO:00717739.8BMPR1A, SMAD4, SMAD9
30heart developmentGO:00075079.7BMPR1A, ENG, PTEN, TGFB1
31positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.7BMPR1A, ENG, SMAD4, TGFB1
32SMAD protein signal transductionGO:00603959.4SMAD4, SMAD9, TGFB1
33negative regulation of cell proliferationGO:00082859.2APC, PTEN, SMAD4, STK11, TGFB1
34BMP signaling pathwayGO:00305099.0BMPR1A, ENG, SMAD4, SMAD9, TGFB1
35transforming growth factor beta receptor signaling pathwayGO:00071798.9BMPR1A, SMAD4, SMAD9, 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 I transforming growth factor beta receptor bindingGO:00347139.8ENG, TGFB1
3type II transforming growth factor beta receptor bindingGO:00051149.6ENG, TGFB1

Sources for Polyposis, Juvenile Intestinal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet