Polyposis, Juvenile Intestinal

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Polyposis, Juvenile Intestinal

MalaCards integrated aliases for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 54
Juvenile Polyposis Syndrome 12 23 50 24 25 56 71 29 52 14 69
Jps 50 24 25 56 71
Juvenile Intestinal Polyposis 50 25 56 71
Jip 50 25 56 71
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


Orphanet epidemiological data:

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;


autosomal dominant


polyposis, juvenile intestinal:
Inheritance autosomal dominant inheritance


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 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...


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 failure to thrive, anemia and hypokalemia. An important gene associated with Polyposis, Juvenile Intestinal is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Hippo signaling pathway. Affiliated tissues include colon, small intestine and pancreas, 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 tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005). It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (601728), the same gene that is mutant in Cowden disease (158350) and in Bannayan-Zonana syndrome (153480). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS. (174900)

UniProtKB/Swiss-Prot : 71 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 50)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 27.1 APC ENG MUTYH PMS2 PTEN SMAD4
2 prosthetic joint infection 11.8
3 duodenum cancer 10.9
4 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.9
5 chromosome 10q22.3-q23.2 deletion syndrome 10.9
6 chromosome 16p12.1 deletion syndrome, 520kb 10.7 BMPR1A PTEN
7 brca2-related fanconi anemia 10.6 BMPR1A SMAD4
8 cowden syndrome 4 10.6 BMPR1A PTEN
9 spontaneous intracranial hypotension 10.6 BMPR1A SMAD4
10 polysyndactyly with cardiac malformation 10.5 BMPR1A PTEN
11 vitamin d-dependent rickets type ii 10.5 ENG SMAD4
12 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4 PTEN STK11
13 brenner tumor of the vagina 10.4 APC PTEN
14 brenner tumor of ovary 10.4 APC PTEN
15 glioma susceptibility 2 10.3 BMPR1A PTEN SMAD4
16 hereditary persistence of fetal hemoglobin, klf1-related 10.3 APC MUTYH
17 coloboma of inferior eyelid 10.3 APC MUTYH
18 ariboflavinosis 10.3 ENG STK11
19 auditory neuropathy 10.3 APC MUTYH
20 respiratory syncytial virus infectious disease 10.3 ENG SMAD4
21 glaucoma 3, primary congenital, e 10.3 PTEN SMAD4
22 colon signet ring adenocarcinoma 10.2 APC SMAD4
23 familial episodic pain syndrome 10.1 APC MUTYH
24 microphthalmia/anophthalmia/coloboma spectrum 10.1 APC MUTYH SMAD4
25 arrhythmogenic right ventricular cardiomyopathy 10.0 APC MUTYH SMAD4
26 viral encephalitis 10.0 BMPR1A PTEN SMAD4 STK11
27 homocystinuria caused by cystathionine beta-synthase deficiency 10.0 ENG SMAD9
28 mismatch repair cancer syndrome 10.0 APC PMS2 PTEN
29 hereditary hemorrhagic telangiectasia 10.0
30 lymphoplasmacytic lymphoma 9.9 MUTYH PMS2 PTEN
31 childhood optic nerve glioma 9.9 APC MUTYH SMAD4
32 bleeding disorder, platelet-type, 13 9.9 APC PTEN SMAD4 STK11
33 hereditary nephrotic syndromes, autosomal dominant 9.8 APC MUTYH PMS2
34 esophagitis 9.8
35 bannayan-riley-ruvalcaba syndrome 9.8
36 ruvalcaba syndrome 9.8
37 muir-torre syndrome 9.8 MUTYH PMS2
38 apocrine adenoma 9.8 APC MUTYH PMS2
39 hereditary spherocytosis 9.8
40 gastric fundus cancer 9.7 APC MUTYH PTEN SMAD4
41 maxillary neoplasm 9.7 APC MUTYH
42 gallbladder cancer 9.7 MUTYH PMS2 PTEN SMAD4
43 chromosome 10q23 deletion syndrome 9.7
44 protein-losing enteropathy 9.7
45 adenocarcinoma 9.7
46 aortic disease 9.7
47 achalasia 9.7
48 peutz-jeghers syndrome 9.7
49 lubani-al saleh-teebi syndrome 9.4 BMPR1A ENG SMAD4 SMAD9
50 glomerulosclerosis, focal segmental, 7 6.2 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 via clinical synopsis from OMIM:


failure to thrive


digital clubbing

abdominal pain
rectal prolapse
rectal bleeding
pedunculated spherical smooth polyps contain numerous large cystic spaces filled with a grayish or yellowish mucus surrounded by copious reddish stroma

colon cancer (cancer not arising in polyps)

Clinical features from OMIM:


Human phenotypes related to Polyposis, Juvenile Intestinal:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 frequent (33%) HP:0001508
2 anemia 32 frequent (33%) HP:0001903
3 hypokalemia 32 HP:0002900
4 abdominal pain 32 frequent (33%) HP:0002027
5 hypoalbuminemia 32 HP:0003073
6 colon cancer 32 very rare (1%) HP:0003003
7 multiple gastric polyps 32 frequent (33%) HP:0004394
8 rectal prolapse 32 occasional (7.5%) HP:0002035
9 hematochezia 32 occasional (7.5%) HP:0002573
10 clubbing 32 occasional (7.5%) HP:0001217
11 intussusception 32 occasional (7.5%) HP:0002576
12 duodenal adenocarcinoma 32 occasional (7.5%) HP:0006771

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

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 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 APC BMPR1A ENG JPH1 PTEN SMAD4
2 cardiovascular system MP:0005385 10.07 APC BMPR1A ENG PTEN SMAD4 SMAD9
3 mortality/aging MP:0010768 10.07 APC BMPR1A ENG JPH1 MUTYH PMS2
4 embryo MP:0005380 10.02 APC BMPR1A ENG PTEN SMAD4 SMAD9
5 craniofacial MP:0005382 9.99 BMPR1A ENG SMAD4 SMAD9 STK11 APC
6 digestive/alimentary MP:0005381 9.97 APC ENG PMS2 PTEN SMAD4 STK11
7 integument MP:0010771 9.93 APC BMPR1A ENG PTEN SMAD4 STK11
8 muscle MP:0005369 9.92 SMAD4 SMAD9 STK11 APC BMPR1A ENG
9 neoplasm MP:0002006 9.86 APC BMPR1A MUTYH PMS2 PTEN SMAD4
10 limbs/digits/tail MP:0005371 9.83 APC BMPR1A PTEN SMAD4 SMAD9
11 liver/biliary system MP:0005370 9.8 STK11 APC PMS2 PTEN SMAD4
12 nervous system MP:0003631 9.76 ENG MUTYH PTEN SMAD4 SMAD9 STK11
13 normal MP:0002873 9.56 APC BMPR1A ENG MINPP1 PTEN SMAD4
14 reproductive system MP:0005389 9.17 APC BMPR1A PMS2 PTEN SMAD4 SMAD9

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

Interventional clinical trials:

id Name Status NCT ID Phase Drugs
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:

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

Publications for Polyposis, Juvenile Intestinal

Variations for Polyposis, Juvenile Intestinal

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

71 (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.982_983insT (p.Tyr328Leufs) insertion 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.1087T> C (p.Cys363Arg) single nucleotide variant Pathogenic rs377767348 GRCh37 Chromosome 18, 48591924: 48591924
39 SMAD4 NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs) deletion Pathogenic rs377767352 GRCh37 Chromosome 18, 48591950: 48591950
40 SMAD4 NM_005359.5(SMAD4): c.1139+1G> A single nucleotide variant Pathogenic rs377767354 GRCh37 Chromosome 18, 48591977: 48591977
41 SMAD4 NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys) single nucleotide variant Pathogenic rs377767356 GRCh37 Chromosome 18, 48593417: 48593417
42 SMAD4 NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter) single nucleotide variant Pathogenic rs377767357 GRCh37 Chromosome 18, 48593442: 48593442
43 SMAD4 NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter) single nucleotide variant Pathogenic rs121912577 GRCh37 Chromosome 18, 48593485: 48593485
44 SMAD4 NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs) deletion Pathogenic rs377767358 GRCh37 Chromosome 18, 48593491: 48593491
45 SMAD4 NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs) deletion Pathogenic rs377767359 GRCh37 Chromosome 18, 48593517: 48593517
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 20)
id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
11.84 PTEN SMAD4 STK11
5 11.81 APC PMS2 PTEN
6 11.73 APC PTEN SMAD4
8 11.63 ENG SMAD4 SMAD9
9 11.53 BMPR1A SMAD4 SMAD9
Show member pathways
12 11.26 ENG SMAD4 SMAD9
13 11.21 SMAD4 STK11
14 11.15 APC PTEN
15 11.05 APC SMAD4
Show member pathways
17 10.96 ENG SMAD4
18 10.89 PTEN SMAD4
19 10.52 SMAD4 SMAD9
20 10.14 BMPR1A 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 nucleoplasm GO:0005654 9.5 APC MUTYH PMS2 PTEN SMAD4 SMAD9
2 SMAD protein complex GO:0071141 8.62 SMAD4 SMAD9

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

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.87 APC MUTYH PMS2 STK11
2 negative regulation of cell proliferation GO:0008285 9.85 APC PTEN SMAD4 STK11
3 heart development GO:0007507 9.79 BMPR1A ENG PTEN
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.65 BMPR1A SMAD4 SMAD9
5 positive regulation of BMP signaling pathway GO:0030513 9.61 ENG SMAD4
6 mismatch repair GO:0006298 9.6 MUTYH PMS2
7 endoderm development GO:0007492 9.59 BMPR1A SMAD4
8 developmental growth GO:0048589 9.58 BMPR1A SMAD4
9 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.58 SMAD4 STK11
10 canonical Wnt signaling pathway GO:0060070 9.58 APC PTEN STK11
11 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.56 ENG SMAD4
12 endocardial cushion morphogenesis GO:0003203 9.54 BMPR1A ENG
13 ventricular trabecula myocardium morphogenesis GO:0003222 9.52 BMPR1A ENG
14 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.51 ENG SMAD4
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.5 BMPR1A ENG SMAD4
16 positive regulation of SMAD protein import into nucleus GO:0060391 9.49 BMPR1A SMAD4
17 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.46 SMAD4 SMAD9
18 response to transforming growth factor beta GO:0071559 9.43 ENG SMAD4
19 cellular response to BMP stimulus GO:0071773 9.43 BMPR1A SMAD4 SMAD9
20 dorsal aorta morphogenesis GO:0035912 9.37 BMPR1A ENG
21 regulation of cardiac muscle cell apoptotic process GO:0010665 9.16 BMPR1A ENG
22 outflow tract septum morphogenesis GO:0003148 9.13 BMPR1A ENG SMAD4
23 BMP signaling pathway GO:0030509 8.92 BMPR1A ENG SMAD4 SMAD9

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

id Name GO ID Score Top Affiliating Genes
1 MutSalpha complex binding GO:0032407 8.96 MUTYH PMS2
2 inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity GO:0051717 8.62 MINPP1 PTEN

Sources for Polyposis, Juvenile Intestinal

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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