JPS
MCID: PLY056
MIFTS: 54

Polyposis, Juvenile Intestinal (JPS) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Polyposis, Juvenile Intestinal

Aliases & Descriptions for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 54
Juvenile Polyposis Syndrome 54 12 23 50 24 25 56 66 29 52 14 69
Jps 50 24 25 56 66
Juvenile Intestinal Polyposis 50 25 56 66
Jip 50 25 56 66
Juvenile Gastrointestinal Polyposis 56 29 69
Juvenile Polyposis Syndrome, Infantile Form 54 13
Juvenile Polyposis Coli 24 69
Generalized Juvenile Polyposis/juvenile Polyposis Coli 56
Polyposis Familial of Entire Gastrointestinal Tract 50
Polyposis Juvenile Intestinal 50
Pji 50

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:

OMIM 54 174900
Disease Ontology 12 DOID:0050787
ICD10 via Orphanet 34 D12.6

Summaries for Polyposis, Juvenile Intestinal

NIH Rare Diseases : 50 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 abdominal pain, clubbing and failure to thrive. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are ERK Signaling and Deubiquitination. Affiliated tissues include colon, small intestine and smooth muscle, and related phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased sensitivity to paclitaxel

Disease Ontology : 12 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 : 54 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...

UniProtKB/Swiss-Prot : 66 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: NBK1469

Related Diseases for Polyposis, Juvenile Intestinal

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

(show all 49)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 28.4 APC BMPR1A ENG MUTYH PTEN SMAD4
2 prosthetic joint infection 11.8
3 pancreatic cancer 10.9
4 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.9
5 duodenum cancer 10.9
6 chromosome 10q23 deletion syndrome juvenile polyposis of infancy, included 10.9
7 chromosome 16p12.1 deletion syndrome, 520kb 10.3 BMPR1A PTEN
8 c5orf42-related joubert syndrome 10.3 BMPR1A SMAD4
9 rhizomelic dysplasia, patterson-lowry type 10.2 BMPR1A PTEN
10 pseudoainhum 10.2 BMPR1A SMAD4
11 hypothalamic adipsic hypernatraemia syndrome 10.2 BMPR1A SMAD4
12 bronchogenic cyst 10.2 APC PTEN
13 bronchiectasis oligospermia 10.2 APC PTEN
14 x-linked leigh syndrome 10.2 ENG SMAD4
15 pierre robin syndrome and oligodactyly 10.1 BMPR1A PTEN SMAD4
16 macrocephaly/autism syndrome 10.1 BMPR1A PTEN SMAD4
17 epididymis cancer 10.1 ENG TGFB1
18 htr2a-related altered drug metabolism 10.1 APC MUTYH
19 retinal degeneration 10.1 ENG STK11
20 infantile thalamic degeneration 10.1 APC MUTYH
21 submucosal invasive colon adenocarcinoma 10.1 APC SMAD4 STK11
22 porencephaly, cerebellar hypoplasia, and internal malformations 10.1 BMPR1A PTEN
23 mitochondrial neurogastrointestinal encephalopathy disease 10.1 APC MUTYH SMAD4
24 familial hypopituitarism 10.1 APC MUTYH SMAD4
25 respiratory syncytial virus infectious disease 10.1 ENG SMAD4 TGFB1
26 hereditary sensory and autonomic neuropathy with deafness and global delay 10.1 APC BMPR1A MUTYH
27 human venous malformation 10.0 ENG SMAD4 TGFB1
28 glioma susceptibility 2 10.0 JPH1 PTEN
29 pituitary infarct 10.0 ENG PTEN TGFB1
30 autoimmune autonomic ganglionopathy 10.0 APC MUTYH
31 childhood teratocarcinoma of the testis 10.0 BMPR1A PTEN SMAD4 STK11
32 herpes simplex encephalitic 6 10.0 APC PTEN SMAD4 STK11
33 hereditary hemorrhagic telangiectasia 10.0
34 proctitis 9.9 MUTYH PTEN SMAD4 TGFB1
35 esophagitis 9.8
36 bannayan-riley-ruvalcaba syndrome 9.8
37 ruvalcaba syndrome 9.8
38 joubert syndrome and related disorders 9.8 ENG SMAD9
39 hereditary spherocytosis 9.8
40 sydenham chorea 9.7 ENG SMAD4 SMAD9 TGFB1
41 muscular dystrophy-dystroglycanopathy , type b, 2 9.7 APC MUTYH PTEN SMAD4 TGFB1
42 protein-losing enteropathy 9.7
43 adenocarcinoma 9.7
44 aortic disease 9.7
45 achalasia 9.7
46 peutz-jeghers syndrome 9.7
47 gastric cancer 9.7
48 chromosome 10q23 deletion syndrome 9.7
49 glomerulosclerosis, focal segmental, 7 8.6 APC 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

Symptoms by clinical synopsis from OMIM:

174900

Clinical features from OMIM:

174900

Human phenotypes related to Polyposis, Juvenile Intestinal:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 abdominal pain 32 HP:0002027
2 clubbing 32 HP:0001217
3 failure to thrive 32 HP:0001508
4 hypokalemia 32 HP:0002900
5 anemia 32 HP:0001903
6 colon cancer 32 HP:0003003
7 multiple gastric polyps 32 HP:0004394
8 hematochezia 32 HP:0002573
9 rectal prolapse 32 HP:0002035
10 hypoalbuminemia 32 HP:0003073
11 intussusception 32 HP:0002576
12 duodenal adenocarcinoma 32 HP:0006771

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.55 APC BMPR1A MINPP1 PTEN STK11
2 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 PTEN SMAD4
3 Increased mitotic index GR00110-A-0 8.8 BMPR1A SMAD4 STK11

MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 APC BMPR1A ENG JPH1 PTEN SMAD4
2 cardiovascular system MP:0005385 10.16 APC BMPR1A ENG PTEN SMAD4 SMAD9
3 embryo MP:0005380 10.13 APC BMPR1A ENG PTEN SMAD4 SMAD9
4 mortality/aging MP:0010768 10.13 APC BMPR1A ENG JPH1 MUTYH PTEN
5 growth/size/body region MP:0005378 10.11 APC BMPR1A ENG PTEN SMAD4 SMAD9
6 craniofacial MP:0005382 10.09 APC BMPR1A ENG SMAD4 SMAD9 STK11
7 muscle MP:0005369 10.06 APC BMPR1A ENG JPH1 PTEN SMAD4
8 integument MP:0010771 10.04 APC BMPR1A ENG PTEN SMAD4 STK11
9 digestive/alimentary MP:0005381 10.01 APC ENG PTEN SMAD4 STK11 TGFB1
10 neoplasm MP:0002006 9.97 MUTYH PTEN SMAD4 SMAD9 STK11 TGFB1
11 nervous system MP:0003631 9.97 TGFB1 APC BMPR1A ENG MUTYH PTEN
12 limbs/digits/tail MP:0005371 9.88 APC BMPR1A PTEN SMAD4 SMAD9
13 normal MP:0002873 9.86 APC BMPR1A ENG MINPP1 PTEN SMAD4
14 liver/biliary system MP:0005370 9.85 APC PTEN SMAD4 STK11 TGFB1
15 renal/urinary system MP:0005367 9.55 APC PTEN SMAD4 STK11 TGFB1
16 reproductive system MP:0005389 9.5 PTEN SMAD4 SMAD9 STK11 TGFB1 APC
17 respiratory system MP:0005388 9.1 BMPR1A ENG PTEN SMAD9 STK11 TGFB1

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

Interventional clinical trials:


id Name Status NCT ID Phase
1 French 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 Hyperpl Recruiting NCT01987518
2 Hereditary Colorectal and Associated Tumor Registry Study Recruiting NCT00633607
3 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Polyposis, Juvenile Intestinal

Genetic Tests for Polyposis, Juvenile Intestinal

Genetic tests related to Polyposis, Juvenile Intestinal:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome 29 24 SMAD4
2 Juvenile Gastrointestinal Polyposis 29

Anatomical Context for Polyposis, Juvenile Intestinal

MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

39
Colon, Small Intestine, Smooth Muscle, Heart, Brain, Pancreas

Publications for Polyposis, Juvenile Intestinal

Variations for Polyposis, Juvenile Intestinal

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 BMPR1A p.Cys124Arg VAR_015533 rs199476087
2 BMPR1A p.Ala338Asp VAR_015534 rs199476086
3 BMPR1A p.Cys376Tyr VAR_015535 rs199476088
4 BMPR1A p.Tyr62Asp VAR_022828
5 BMPR1A p.Cys82Tyr VAR_022829
6 BMPR1A p.Cys130Arg VAR_022830
7 BMPR1A p.Arg443Cys VAR_022831 rs35619497
8 BMPR1A p.Met470Thr VAR_022832 rs199476089
9 SMAD4 p.Gly352Arg VAR_019571 rs121912581
10 SMAD4 p.Arg361Cys VAR_019572 rs80338963
11 SMAD4 p.Glu330Gly VAR_022833 rs281875324

ClinVar genetic disease variations for Polyposis, Juvenile Intestinal:

6 (show top 50) (show all 97)
id Gene Variation Type Significance SNP ID Assembly Location
1 BMPR1A BMPR1A, 4-BP DEL, 44TGTT deletion Pathogenic
2 BMPR1A NM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic rs199476084 GRCh37 Chromosome 10, 88676930: 88676930
3 BMPR1A NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic rs199476085 GRCh37 Chromosome 10, 88677027: 88677027
4 BMPR1A BMPR1A, 1-BP DEL, 961C deletion Pathogenic
5 BMPR1A NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp) single nucleotide variant Pathogenic rs199476086 GRCh37 Chromosome 10, 88679073: 88679073
6 BMPR1A NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg) single nucleotide variant Pathogenic/Likely pathogenic rs199476087 GRCh37 Chromosome 10, 88659587: 88659587
7 BMPR1A NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr) single nucleotide variant Pathogenic rs199476088 GRCh37 Chromosome 10, 88679187: 88679187
8 BMPR1A NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr) single nucleotide variant Pathogenic rs199476089 GRCh37 Chromosome 10, 88683199: 88683199
9 SMAD4 SMAD4, 4-BP DEL, NT1372 deletion Pathogenic
10 SMAD4 SMAD4, 2-BP DEL deletion Pathogenic
11 SMAD4 SMAD4, 1-BP INS insertion Pathogenic
12 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
13 SMAD4 SMAD4, 2-BP DEL, 959AC deletion Pathogenic
14 SMAD4 NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter) single nucleotide variant Pathogenic rs80338964 GRCh37 Chromosome 18, 48593411: 48593411
15 SMAD4 NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del deletion Pathogenic GRCh38 Chromosome 18, 51013658: 51078467
16 SMAD4 NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs) insertion Pathogenic rs377767324 GRCh37 Chromosome 18, 48575179: 48575180
17 SMAD4 NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs) duplication Pathogenic rs377767325 GRCh37 Chromosome 18, 48575181: 48575187
18 SMAD4 NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs377767326 GRCh37 Chromosome 18, 48575209: 48575209
19 SMAD4 NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs) deletion Pathogenic rs377767328 GRCh37 Chromosome 18, 48575670: 48575671
20 SMAD4 NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter) single nucleotide variant Pathogenic rs377767329 GRCh37 Chromosome 18, 48575677: 48575677
21 SMAD4 NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del) deletion Pathogenic rs377767330 GRCh37 Chromosome 18, 48581212: 48581223
22 SMAD4 NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter) single nucleotide variant Pathogenic rs377767331 GRCh37 Chromosome 18, 48581229: 48581229
23 SMAD4 NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs377767332 GRCh37 Chromosome 18, 48581234: 48581234
24 SMAD4 NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs) deletion Pathogenic rs377767333 GRCh37 Chromosome 18, 48581304: 48581304
25 SMAD4 NM_005359.5(SMAD4): c.668-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584495: 48604837
26 SMAD4 NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs) duplication Pathogenic rs377767334 GRCh37 Chromosome 18, 48584519: 48584519
27 SMAD4 NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs) insertion Pathogenic rs377767335 GRCh37 Chromosome 18, 48584556: 48584557
28 SMAD4 NM_005359.5(SMAD4): c.788-?_1659+?del deletion Pathogenic GRCh37 Chromosome 18, 48584710: 48604837
29 SMAD4 NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs) deletion Pathogenic rs377767336 GRCh37 Chromosome 18, 48584753: 48584754
30 SMAD4 NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs) duplication Pathogenic rs377767338 GRCh37 Chromosome 18, 48586256: 48586259
31 SMAD4 NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs) deletion Pathogenic rs377767340 GRCh37 Chromosome 18, 48591808: 48591808
32 SMAD4 NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs) duplication Pathogenic rs377767341 GRCh37 Chromosome 18, 48591819: 48591819
33 SMAD4 NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser) single nucleotide variant Pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
34 SMAD4 NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly) single nucleotide variant Pathogenic/Likely pathogenic rs281875324 GRCh37 Chromosome 18, 48591826: 48591826
35 SMAD4 NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs) deletion Pathogenic rs377767343 GRCh37 Chromosome 18, 48591874: 48591874
36 SMAD4 NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs) deletion Pathogenic rs377767344 GRCh37 Chromosome 18, 48591879: 48591880
37 SMAD4 NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser) single nucleotide variant Pathogenic rs377767346 GRCh37 Chromosome 18, 48591895: 48591895
38 SMAD4 NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs) deletion Pathogenic rs377767359 GRCh38 Chromosome 18, 51067147: 51067147
39 SMAD4 NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg) single nucleotide variant Pathogenic rs377767348 GRCh37 Chromosome 18, 48591924: 48591924
40 SMAD4 NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs) deletion Pathogenic rs377767352 GRCh37 Chromosome 18, 48591950: 48591950
41 SMAD4 NM_005359.5(SMAD4): c.1139+1G> A single nucleotide variant Pathogenic rs377767354 GRCh37 Chromosome 18, 48591977: 48591977
42 SMAD4 NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys) single nucleotide variant Pathogenic rs377767356 GRCh37 Chromosome 18, 48593417: 48593417
43 SMAD4 NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter) single nucleotide variant Pathogenic rs377767357 GRCh37 Chromosome 18, 48593442: 48593442
44 SMAD4 NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter) single nucleotide variant Pathogenic rs121912577 GRCh37 Chromosome 18, 48593485: 48593485
45 SMAD4 NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs) deletion Pathogenic rs377767358 GRCh37 Chromosome 18, 48593491: 48593491
46 SMAD4 NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs377767360 GRCh37 Chromosome 18, 48603032: 48603032
47 SMAD4 NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter) single nucleotide variant Pathogenic rs377767361 GRCh37 Chromosome 18, 48603041: 48603041
48 SMAD4 NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs) deletion Pathogenic rs377767362 GRCh37 Chromosome 18, 48603042: 48603064
49 SMAD4 NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs) deletion Pathogenic rs377767363 GRCh37 Chromosome 18, 48603060: 48603063
50 SMAD4 NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs) insertion Pathogenic rs377767364 GRCh37 Chromosome 18, 48603108: 48603109

Expression for Polyposis, Juvenile Intestinal

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

Pathways for Polyposis, Juvenile Intestinal

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

(show all 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 APC BMPR1A PTEN SMAD4 SMAD9 STK11
2
Show member pathways
12.65 APC PTEN SMAD4 TGFB1
3 12.5 APC PTEN SMAD4 TGFB1
4
Show member pathways
12.35 APC BMPR1A SMAD4 TGFB1
5
Show member pathways
12.19 APC PTEN SMAD4 TGFB1
6
Show member pathways
12.1 APC BMPR1A SMAD4 SMAD9 TGFB1
7 12.01 APC SMAD4 TGFB1
8 12.01 APC BMPR1A SMAD4 TGFB1
9 12 BMPR1A PTEN SMAD4 STK11
10 11.94 APC BMPR1A SMAD4 SMAD9
11
Show member pathways
11.92 PTEN SMAD4 STK11 TGFB1
12 11.79 PTEN SMAD4 TGFB1
13
Show member pathways
11.77 SMAD4 SMAD9 TGFB1
14 11.77 APC PTEN SMAD4 TGFB1
15
Show member pathways
11.62 BMPR1A SMAD4 TGFB1
16 11.62 ENG SMAD4 SMAD9 TGFB1
17 11.61 APC ENG SMAD4 SMAD9 TGFB1
18
Show member pathways
11.58 BMPR1A SMAD4 SMAD9
19 11.38 BMPR1A SMAD4 SMAD9 TGFB1
20
Show member pathways
11.32 SMAD4 TGFB1
21 11.21 APC PTEN
22 11.11 APC SMAD4 TGFB1
23
Show member pathways
11.04 SMAD4 SMAD9 TGFB1
24 11.02 ENG SMAD4
25 10.95 PTEN SMAD4
26 10.89 BMPR1A SMAD4 SMAD9
27 10.86 SMAD4 TGFB1
28 10.69 ENG SMAD4 SMAD9 TGFB1
29 10.62 SMAD4 SMAD9

GO Terms for Polyposis, Juvenile Intestinal

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

id Name GO ID Score Top Affiliating Genes
1 SMAD protein complex GO:0071141 8.62 SMAD4 SMAD9

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.88 APC PTEN SMAD4 STK11 TGFB1
2 cell migration GO:0016477 9.83 APC PTEN TGFB1
3 heart development GO:0007507 9.83 BMPR1A ENG PTEN TGFB1
4 cell cycle arrest GO:0007050 9.8 APC STK11 TGFB1
5 negative regulation of cell growth GO:0030308 9.78 SMAD4 STK11 TGFB1
6 canonical Wnt signaling pathway GO:0060070 9.75 APC PTEN STK11
7 SMAD protein signal transduction GO:0060395 9.69 SMAD4 SMAD9 TGFB1
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 SMAD4 TGFB1
9 positive regulation of BMP signaling pathway GO:0030513 9.66 ENG SMAD4
10 positive regulation of bone mineralization GO:0030501 9.66 BMPR1A TGFB1
11 protein kinase B signaling GO:0043491 9.65 PTEN TGFB1
12 developmental growth GO:0048589 9.65 BMPR1A SMAD4
13 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.64 SMAD4 STK11
14 positive regulation of collagen biosynthetic process GO:0032967 9.64 ENG TGFB1
15 positive regulation of protein localization to nucleus GO:1900182 9.63 STK11 TGFB1
16 positive regulation of pri-miRNA transcription from RNA polymerase II promoter GO:1902895 9.63 BMPR1A TGFB1
17 cellular response to BMP stimulus GO:0071773 9.63 BMPR1A SMAD4 SMAD9
18 endocardial cushion morphogenesis GO:0003203 9.62 BMPR1A ENG
19 ventricular trabecula myocardium morphogenesis GO:0003222 9.61 BMPR1A ENG
20 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 ENG SMAD4
21 negative regulation of phagocytosis GO:0050765 9.59 PTEN TGFB1
22 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.58 SMAD4 SMAD9
23 endoderm development GO:0007492 9.58 BMPR1A SMAD4 TGFB1
24 dorsal aorta morphogenesis GO:0035912 9.57 BMPR1A ENG
25 SMAD protein complex assembly GO:0007183 9.56 SMAD4 TGFB1
26 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 BMPR1A SMAD4 SMAD9 TGFB1
27 cellular response to insulin-like growth factor stimulus GO:1990314 9.55 PTEN TGFB1
28 response to transforming growth factor beta GO:0071559 9.54 ENG SMAD4
29 outflow tract septum morphogenesis GO:0003148 9.54 BMPR1A ENG SMAD4
30 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.5 ENG SMAD4 TGFB1
31 regulation of binding GO:0051098 9.49 SMAD4 TGFB1
32 regulation of cardiac muscle cell apoptotic process GO:0010665 9.43 BMPR1A ENG
33 positive regulation of SMAD protein import into nucleus GO:0060391 9.33 BMPR1A SMAD4 TGFB1
34 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 BMPR1A ENG SMAD4 TGFB1
35 BMP signaling pathway GO:0030509 9.02 BMPR1A ENG SMAD4 SMAD9 TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 type I transforming growth factor beta receptor binding GO:0034713 9.16 ENG TGFB1
2 type II transforming growth factor beta receptor binding GO:0005114 8.96 ENG TGFB1
3 inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity GO:0051717 8.62 MINPP1 PTEN

Sources for Polyposis, Juvenile Intestinal

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10 dbSNP
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16 ExPASy
18 FMA
28 GO
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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