Polyposis, Juvenile Intestinal malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Aliases & Classifications for Polyposis, Juvenile Intestinal

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Aliases & Descriptions for Polyposis, Juvenile Intestinal:

Name: Polyposis, Juvenile Intestinal 46
Juvenile Polyposis Syndrome 46 8 19 42 20 21 44 48 22 61
Juvenile Intestinal Polyposis 42 21 48
Jip 42 21 48
Jps 42 21 48
Juvenile Polyposis Syndrome, Infantile Form 46 9
Juvenile Gastrointestinal Polyposis 42 48
Peutz-Jeghers Syndrome 42 61
Polyposis Familial of Entire Gastrointestinal Tract 42
Hamartomatous Intestinal Polyposis 42
Polyposis Juvenile Intestinal 42
Polyps and Spots Syndrome 42
Pjs 42
Pji 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 174900
Disease Ontology8 DOID:0050787
Orphanet48 2929
ICD10 via Orphanet26 D12.6

Summaries for Polyposis, Juvenile Intestinal

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Genetics Home Reference:21 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.

MalaCards based summary: Polyposis, Juvenile Intestinal, also known as juvenile polyposis syndrome, is related to peutz-jeghers syndrome and adenoma, and has symptoms including malabsorption, gastrointestinal hemorrhage and intestinal polyposis. An important gene associated with Polyposis, Juvenile Intestinal is BMPR1A (bone morphogenetic protein receptor, type IA), and among its related pathways are TGF-beta Receptor Signaling Pathway and FoxO signaling pathway. The compounds paraffin and manganese have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and heart, and related mouse phenotypes are tumorigenesis and muscle.

Disease Ontology:8 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.

OMIM:46 Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of... (174900) more...

GeneReviews summary for jps

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 top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1peutz-jeghers syndrome32.6STK11, BMPR1A
2adenoma31.0STK11, SMAD4
3pancreatic cancer30.9STK11, SMAD4
4breast cancer30.6STK11, BMPR1A, SMAD4
5hereditary hemorrhagic telangiectasia30.5SMAD4, BMPR1A
6colorectal cancer30.5STK11, SMAD4
7gastric cancer, somatic30.2STK11, SMAD4
8cowden disease30.0BMPR1A, STK11, SMAD4
11sertoli cell tumor10.8
13ovarian sex cord tumor with annular tubules10.8
19cervical adenoma malignum10.5
21bilateral breast cancer10.5
22gastric adenocarcinoma10.5
23deficiency anemia10.4
25acute pancreatitis10.4
26gastrointestinal carcinoma10.4
27iron deficiency anemia10.4
29ovarian gonadoblastoma10.4
30cervical adenocarcinoma10.4
31colon adenocarcinoma10.4
33intestinal obstruction10.4
35precocious puberty10.4
37gastric outlet obstruction10.4
39sickle cell anemia10.3
41carney complex, type 110.3
42neurofibromatosis, type 110.3
44retinitis pigmentosa10.3
45neuroendocrine carcinoma10.3
46jejunal adenocarcinoma10.3
48cleft lip10.3
49rectal prolapse10.3
50cronkhite-canada syndrome10.3

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

Diseases related to polyposis, juvenile intestinal

Symptoms for Polyposis, Juvenile Intestinal

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (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 36)
id Description Frequency HPO Source Accession
1 malabsorption hallmark (90%) HP:0002024
2 gastrointestinal hemorrhage hallmark (90%) HP:0002239
3 intestinal polyposis hallmark (90%) HP:0200008
4 anemia common (75%) HP:0001903
5 diarrhea common (75%) HP:0002014
6 abdominal pain common (75%) HP:0002027
7 multiple gastric polyps common (75%) HP:0004394
8 anemia typical (50%) HP:0001903
9 neoplasm of the colon typical (50%) HP:0100273
10 failure to thrive frequent (33%) HP:0001508
11 colon cancer 20% HP:0003003
12 clubbing occasional (7.5%) HP:0001217
13 rectal prolapse occasional (7.5%) HP:0002035
14 hematochezia occasional (7.5%) HP:0002573
15 intussusception occasional (7.5%) HP:0002576
16 duodenal carcinoma occasional (7.5%) HP:0006771
17 abnormality of female internal genitalia occasional (7.5%) HP:0000008
18 cryptorchidism occasional (7.5%) HP:0000028
19 abnormality of the kidney occasional (7.5%) HP:0000077
20 macrocephaly occasional (7.5%) HP:0000256
21 hypertelorism occasional (7.5%) HP:0000316
22 lymphedema occasional (7.5%) HP:0001004
23 communicating hydrocephalus occasional (7.5%) HP:0001334
24 defect in the atrial septum 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 teleangiectasia of the skin occasional (7.5%) HP:0100585
33 intestinal fistula occasional (7.5%) HP:0100819
34 autosomal dominant inheritance HP:0000006
35 hypokalemia HP:0002900
36 hypoalbuminemia HP:0003073

Drugs & Therapeutics for Polyposis, Juvenile Intestinal

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Drug clinical trials:

Search ClinicalTrials for Polyposis, Juvenile Intestinal

Search NIH Clinical Center for Polyposis, Juvenile Intestinal

Genetic Tests for Polyposis, Juvenile Intestinal

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Genetic tests related to Polyposis, Juvenile Intestinal:

id Genetic test Affiliating Genes
1 Juvenile Polyposis Syndrome20 22 SMAD4

Anatomical Context for Polyposis, Juvenile Intestinal

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MalaCards organs/tissues related to Polyposis, Juvenile Intestinal:

Colon, Brain, Heart, Small intestine, Kidney, Pancreas, Skin, Testes, Bone, Uterus

Animal Models for Polyposis, Juvenile Intestinal or affiliated genes

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MGI Mouse Phenotypes related to Polyposis, Juvenile Intestinal:

35 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8BMPR1A, STK11, SMAD4
2MP:00053698.8SMAD4, STK11, BMPR1A
3MP:00053798.8BMPR1A, STK11, SMAD4
4MP:00107718.7SMAD4, STK11, BMPR1A
5MP:00053808.7BMPR1A, STK11, SMAD4
6MP:00028738.7SMAD4, STK11, BMPR1A
7MP:00053898.7BMPR1A, STK11, SMAD4
8MP:00053858.7SMAD4, STK11, BMPR1A
9MP:00053978.6BMPR1A, STK11, SMAD4
10MP:00053868.6BMPR1A, STK11, SMAD4
11MP:00053878.5SMAD4, STK11, BMPR1A
12MP:00053788.5BMPR1A, STK11, SMAD4
13MP:00053848.4BMPR1A, STK11, SMAD4
14MP:00036318.2SMAD4, STK11, BMPR1A

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:

63 (show all 11)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Polyposis, Juvenile Intestinal:

5 (show all 90)
id Gene Variation Type Significance SNP ID Assembly Location
1SMAD4NM_005359.5(SMAD4): c.1244_1247delACAG (p.Asp415Glufs)deletionPathogenicrs80338965GRCh37Chr 18, 48593493: 48593496
2SMAD4NM_005359.5: c.(?_-17093)_(1659_?)deldeletionPathogenic
3SMAD4NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)insertionPathogenicrs377767324GRCh37Chr 18, 48575179: 48575180
4SMAD4NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)duplicationPathogenicrs377767325GRCh37Chr 18, 48575181: 48575187
5SMAD4NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)single nucleotide variantPathogenicrs377767326GRCh37Chr 18, 48575209: 48575209
6SMAD4NM_005359.5(SMAD4): c.425-6A> Gsingle nucleotide variantPathogenicrs377767327GRCh37Chr 18, 48575659: 48575659
7SMAD4NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)deletionPathogenicrs377767328GRCh37Chr 18, 48575670: 48575671
8SMAD4NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)single nucleotide variantPathogenicrs377767329GRCh37Chr 18, 48575677: 48575677
9SMAD4NM_005359.5(SMAD4): c.516_527delGTCCACTGAAGG (p.Ser173_Gly176del)deletionPathogenicrs377767330GRCh37Chr 18, 48581212: 48581223
10SMAD4NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)single nucleotide variantPathogenicrs377767331GRCh37Chr 18, 48581229: 48581229
11SMAD4NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs377767332GRCh37Chr 18, 48581234: 48581234
12SMAD4NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)deletionPathogenicrs377767333GRCh37Chr 18, 48581304: 48581304
13SMAD4NM_005359.5(SMAD4): c.668-?_1659+?deldeletionPathogenic
14SMAD4NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)duplicationPathogenicrs377767334GRCh37Chr 18, 48584519: 48584520
15SMAD4NM_005359.5(SMAD4): c.729_730insCCGC (p.Gln245Profs)insertionPathogenicrs377767335GRCh37Chr 18, 48584556: 48584557
16SMAD4NM_005359.5(SMAD4): c.788-?_1659+?deldeletionPathogenic
17SMAD4NM_005359.5(SMAD4): c.829_830delAC (p.Pro278Terfs)deletionPathogenicrs377767336GRCh37Chr 18, 48584751: 48584752
18SMAD4NM_005359.5(SMAD4): c.831_832delAC (p.Pro278Terfs)deletionPathogenicrs377767337GRCh37Chr 18, 48584753: 48584754
19SMAD4NM_005359.5(SMAD4): c.925_928dupGCAT (p.Phe310Cysfs)duplicationPathogenicrs377767338GRCh37Chr 18, 48586256: 48586259
20SMAD4NM_005359.5(SMAD4): c.970T> C (p.Cys324Arg)single nucleotide variantPathogenicrs377767339GRCh37Chr 18, 48591807: 48591807
21SMAD4NM_005359.5(SMAD4): c.971delG (p.Cys324Phefs)deletionPathogenicrs377767340GRCh37Chr 18, 48591808: 48591808
22SMAD4NM_005359.5(SMAD4): c.982dupT (p.Tyr328Leufs)duplicationPathogenicrs377767341GRCh37Chr 18, 48591819: 48591820
23SMAD4NM_005359.5(SMAD4): c.1081C> A (p.Arg361Ser)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
24SMAD4NM_005359.5(SMAD4): c.989A> G (p.Glu330Gly)single nucleotide variantLikely pathogenic, Pathogenicrs281875324GRCh37Chr 18, 48591826: 48591826
25SMAD4NM_005359.5(SMAD4): c.1037delC (p.Pro346Leufs)deletionPathogenicrs377767343GRCh37Chr 18, 48591874: 48591874
26SMAD4NM_005359.5(SMAD4): c.1042_1043delGT (p.Val348Tyrfs)deletionPathogenicrs377767344GRCh37Chr 18, 48591879: 48591880
27SMAD4NM_005359.5(SMAD4): c.1054G> A (p.Gly352Arg)single nucleotide variantPathogenicrs121912581GRCh37Chr 18, 48591891: 48591891
28SMAD4NM_005359.5(SMAD4): c.1058A> C (p.Tyr353Ser)single nucleotide variantPathogenicrs377767346GRCh37Chr 18, 48591895: 48591895
29SMAD4NM_005359.5(SMAD4): c.1087T> C (p.Cys363Arg)single nucleotide variantPathogenicrs377767348GRCh37Chr 18, 48591924: 48591924
30SMAD4NM_005359.5(SMAD4): c.1113delC (p.His371Glnfs)deletionPathogenicrs377767352GRCh37Chr 18, 48591950: 48591950
31SMAD4NM_005359.5(SMAD4): c.1139+1G> Asingle nucleotide variantPathogenicrs377767354GRCh37Chr 18, 48591977: 48591977
32SMAD4NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)single nucleotide variantPathogenicrs80338964GRCh37Chr 18, 48593411: 48593411
33SMAD4NM_005359.5(SMAD4): c.1168G> A (p.Glu390Lys)single nucleotide variantPathogenicrs377767356GRCh37Chr 18, 48593417: 48593417
34SMAD4NM_005359.5(SMAD4): c.1193G> A (p.Trp398Ter)single nucleotide variantPathogenicrs377767357GRCh37Chr 18, 48593442: 48593442
35SMAD4NM_005359.5(SMAD4): c.1236C> G (p.Tyr412Ter)single nucleotide variantPathogenicrs121912577GRCh37Chr 18, 48593485: 48593485
36SMAD4NM_005359.5(SMAD4): c.1242delA (p.Asp415Thrfs)deletionPathogenicrs377767358GRCh37Chr 18, 48593491: 48593491
37SMAD4NM_005359.5(SMAD4): c.1268delG (p.Gly423Glufs)deletionPathogenicrs377767359GRCh37Chr 18, 48593517: 48593517
38SMAD4NM_005359.5(SMAD4): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs377767360GRCh37Chr 18, 48603032: 48603032
39SMAD4NM_005359.5(SMAD4): c.1342C> T (p.Gln448Ter)single nucleotide variantPathogenicrs377767361GRCh37Chr 18, 48603041: 48603041
40SMAD4NM_005359.5(SMAD4): c.1343_1365del23 (p.Gln448Argfs)deletionPathogenicrs377767362GRCh37Chr 18, 48603042: 48603064
41SMAD4NM_005359.5(SMAD4): c.1361_1364delCACA (p.Ala454Glufs)deletionPathogenicrs377767363GRCh37Chr 18, 48603060: 48603063
42SMAD4NM_005359.5(SMAD4): c.1409_1410insCCCT (p.Gly471Profs)insertionPathogenicrs377767364GRCh37Chr 18, 48603108: 48603109
43SMAD4NM_005359.5(SMAD4): c.1411_1435del25 (p.Gly471Leufs)deletionPathogenicrs377767365GRCh37Chr 18, 48603110: 48603134
44SMAD4NM_005359.5(SMAD4): c.1421delC (p.Ser474Terfs)deletionPathogenicrs377767366GRCh37Chr 18, 48603120: 48603120
45SMAD4NM_005359.5(SMAD4): c.1472G> T (p.Gly491Val)single nucleotide variantPathogenicrs377767367GRCh37Chr 18, 48604650: 48604650
46SMAD4NM_005359.5(SMAD4): c.1478A> C (p.Asp493Ala)single nucleotide variantPathogenicrs377767368GRCh37Chr 18, 48604656: 48604656
47SMAD4NM_005359.5(SMAD4): c.1525T> A (p.Trp509Arg)single nucleotide variantPathogenicrs377767369GRCh37Chr 18, 48604703: 48604703
48SMAD4NM_005359.5(SMAD4): c.1527G> A (p.Trp509Ter)single nucleotide variantPathogenicrs377767370GRCh37Chr 18, 48604705: 48604705
49SMAD4NM_005359.5(SMAD4): c.1529G> T (p.Gly510Val)single nucleotide variantPathogenicrs377767371GRCh37Chr 18, 48604707: 48604707
50SMAD4NM_005359.5(SMAD4): c.1544delG (p.Arg515Asnfs)deletionPathogenicrs377767372GRCh37Chr 18, 48604722: 48604722
51SMAD4NM_005359.5(SMAD4): c.1547_1550dupAGAG (p.Ser517Argfs)duplicationPathogenicrs377767373GRCh37Chr 18, 48604725: 48604728
52SMAD4NM_005359.5(SMAD4): c.1564_1565delCC (p.Pro522Leufs)deletionPathogenicrs377767374GRCh37Chr 18, 48604742: 48604743
53SMAD4NM_005359.5(SMAD4): c.1571G> T (p.Trp524Leu)single nucleotide variantPathogenicrs377767375GRCh37Chr 18, 48604749: 48604749
54SMAD4NM_005359.5(SMAD4): c.1587dupA (p.His530Thrfs)duplicationPathogenicrs377767376GRCh37Chr 18, 48604765: 48604766
55SMAD4NM_005359.5(SMAD4): c.1588delC (p.His530Thrfs)deletionPathogenicrs377767377GRCh37Chr 18, 48604766: 48604766
56SMAD4NM_005359.5(SMAD4): c.1597C> G (p.Leu533Val)single nucleotide variantPathogenicrs377767381GRCh37Chr 18, 48604775: 48604775
57SMAD4NM_005359.5(SMAD4): c.1607dupT (p.Asp537Argfs)duplicationPathogenicrs377767384GRCh37Chr 18, 48604785: 48604786
58SMAD4NM_005359.5(SMAD4): c.1139G> A (p.Arg380Lys)single nucleotide variantPathogenicrs377767353GRCh37Chr 18, 48591976: 48591976
59SMAD4NM_005359.5(SMAD4): c.424+1G> Asingle nucleotide variantPathogenicrs377767386GRCh37Chr 18, 48575231: 48575231
60SMAD4NM_005359.5: c.189_197delAAATGGAGCins44indelPathogenicGRCh37Chr 18, 48573605: 48573613
61STK11NM_000455.4(STK11): c.759C> A (p.Tyr253Ter)single nucleotide variantPathogenicrs137853075GRCh37Chr 19, 1221236: 1221236
62STK11NM_000455.4(STK11): c.843delG (p.Leu282Serfs)deletionPathogenicGRCh38Chr 19, 1221321: 1221321
63STK11NM_000455.4(STK11): c.718_721delTCGG (p.Ser240Leufs)deletionPathogenicGRCh38Chr 19, 1220701: 1220704
64STK11NM_000455.4(STK11): c.465-1G> Asingle nucleotide variantPathogenicGRCh38Chr 19, 1220372: 1220372
65STK11NM_000455.4(STK11): c.250A> T (p.Lys84Ter)single nucleotide variantPathogenicrs137853076GRCh37Chr 19, 1207162: 1207162
66STK11NM_000455.4(STK11): c.834_835delTG (p.Cys278Trpfs)deletionPathogenicGRCh38Chr 19, 1221312: 1221313
67STK11NM_000455.4(STK11): c.200T> C (p.Leu67Pro)single nucleotide variantPathogenicrs137853077GRCh37Chr 19, 1207112: 1207112
68STK11NM_000455.4(STK11): c.908_916delTCCGGCAGC (p.Ile303_His306delinsAsn)deletionPathogenicGRCh38Chr 19, 1221994: 1222002
69STK11NM_000455.4(STK11): c.169G> T (p.Glu57Ter)single nucleotide variantPathogenicrs137854584GRCh37Chr 19, 1207081: 1207081
70STK11NM_000455.4(STK11): c.418delC (p.Leu140Trpfs)deletionPathogenicrs397518440GRCh37Chr 19, 1219366: 1219366
71STK11NM_000455.4(STK11): c.197dupT (p.Leu67Alafs)duplicationPathogenicrs397518441GRCh37Chr 19, 1207109: 1207109
72STK11NM_000455.4(STK11): c.717G> C (p.Trp239Cys)single nucleotide variantPathogenicrs137853082GRCh37Chr 19, 1220699: 1220699
73STK11NM_000455.4(STK11): c.891delG (p.Arg297Serfs)deletionPathogenicGRCh37Chr 19, 1221976: 1221976
74STK11NM_000455.4(STK11): c.738C> G (p.Tyr246Ter)single nucleotide variantPathogenicrs137853083GRCh37Chr 19, 1221215: 1221215
75BMPR1ABMPR1A, 4-BP DEL, 44TGTTdeletionPathogenic
76BMPR1ANM_004329.2(BMPR1A): c.715C> T (p.Gln239Ter)single nucleotide variantPathogenicrs199476084GRCh37Chr 10, 88676930: 88676930
77BMPR1ANM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)single nucleotide variantPathogenicrs199476085GRCh37Chr 10, 88677027: 88677027
78BMPR1ABMPR1A, 1-BP DEL, 961CdeletionPathogenic
79BMPR1ANM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)single nucleotide variantPathogenicrs199476086GRCh37Chr 10, 88679073: 88679073
80BMPR1ANM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)single nucleotide variantPathogenicrs199476087GRCh37Chr 10, 88659587: 88659587
81BMPR1ANM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)single nucleotide variantPathogenicrs199476088GRCh37Chr 10, 88679187: 88679187
82BMPR1ANM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)single nucleotide variantPathogenicrs199476089GRCh37Chr 10, 88683199: 88683199
83SMAD4SMAD4, 4-BP DEL, NT1372deletionPathogenic
84SMAD4SMAD4, 2-BP DELdeletionPathogenic
85SMAD4SMAD4, 1-BP INSinsertionPathogenic
86SMAD4NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)single nucleotide variantPathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
87SMAD4SMAD4, 2-BP DEL, 959ACdeletionPathogenic
88SMAD4NM_005359.5(SMAD4): c.1157G> A (p.Gly386Asp)single nucleotide variantPathogenicrs121912580GRCh37Chr 18, 48593406: 48593406
89SMAD4SMAD4, 14-BP DEL, NT1612deletionPathogenic
90SMAD4SMAD4, 2-BP DEL/1-BP INS, 1596CC/TindelPathogenic

Cosmic variations for Polyposis, Juvenile Intestinal:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
144603TP53large intestine,colon,other,hamartoma3

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 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SMAD4, STK11
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.1STK11, SMAD4
39.1STK11, SMAD4
49.1STK11, SMAD4
Show member pathways
BMP receptor signaling36
BMP signalling and regulation36
BMP Signalling Pathway36
Show member pathways
Show member pathways
118.5BMPR1A, STK11, SMAD4

Compounds for genes affiliated with Polyposis, Juvenile Intestinal

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44Novoseek, 24HMDB
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Compounds related to Polyposis, Juvenile Intestinal according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1paraffin449.1STK11, SMAD4
2manganese44 2410.0BMPR1A, STK11
3threonine448.5BMPR1A, STK11, SMAD4
4serine448.4SMAD4, STK11, BMPR1A

GO Terms for genes affiliated with Polyposis, Juvenile Intestinal

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of transforming growth factor beta receptor signaling pathwayGO:00305119.4STK11, SMAD4
2positive regulation of SMAD protein import into nucleusGO:00603919.3BMPR1A, SMAD4
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.3BMPR1A, SMAD4
4negative regulation of cell growthGO:00303089.2SMAD4, STK11
5developmental growthGO:00485899.2SMAD4, BMPR1A
6protein phosphorylationGO:00064689.2STK11, BMPR1A
7BMP signaling pathwayGO:00305099.2BMPR1A, SMAD4
8palate developmentGO:00600219.2BMPR1A, SMAD4
9transforming growth factor beta receptor signaling pathwayGO:00071799.1BMPR1A, SMAD4
10in utero embryonic developmentGO:00017019.0BMPR1A, SMAD4
11positive regulation of transcription, DNA-templatedGO:00458939.0BMPR1A, SMAD4
12negative regulation of cell proliferationGO:00082858.8STK11, SMAD4

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activityGO:00046749.3BMPR1A, STK11

Sources for Polyposis, Juvenile Intestinal

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet