Juvenile Polyposis Syndrome malady

Genetics Home Reference: Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). Juvenile refers to the type of polyp, not the age at which polyps develop. People with juvenile polyposis syndrome typically develop polyps during the first two decades of life. The number of polyps varies from only a few to hundreds, even among affected people in 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.¹⁷

MalaCards: Juvenile Polyposis Syndrome, also known as juvenile polyposis coli, is related to polyposis and ruvalcaba syndrome. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD family member 4), and among its related pathways are Glioblastoma Multiforme and TOB in Osteoblast Signaling. The compounds rapamycin and methylazoxymethanol acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and colon, and related mouse phenotypes are craniofacial and embryogenesis.

Wikipedia: Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple polyps in the...⁴⁴ more...

OMIM: 174900

GeneReviews summary for jps

juvenile polyposis syndrome 15 30 16 17 32 43 juvenile polyposis coli 15 16 43 jps 30 16 polyposis familial of entire gastrointestinal tract 30 bmpr1a-related juvenile polyposis 17 smad4-related juvenile polyposis 17

polyposis, juvenile intestinal 33 polyposis juvenile intestinal 30 juvenile intestinal polyposis 30 jip 30 pji 30

Diseases related to juvenile polyposis syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 179)

id	Related Disease	Score	Top Affiliating Genes
1	polyposis	29.7	BMP2, BMPR1A, APC, DUSP13, PTEN, PTGS2
2	ruvalcaba syndrome	29.1	PTEN, DUSP13, BMPR1A
3	bannayan-riley-ruvalcaba syndrome	28.1	STK11, SMAD4, PTEN, DUSP13, BMPR1A
4	nephroblastoma	26.4	BMP2, PTEN, CTNNB1
5	alzheimer's disease	25.8	BMPR1A, APC, DUSP13, PTEN, PTGS2, CTNNB1
6	nasopharyngitis	25.4	SMAD4, CTNNB1, PTGS2, PTEN, APC
7	neuronitis	25.4	STK11, SMAD4, CTNNB1, PTGS2, PTEN, DUSP13
8	prostatitis	24.1	STK11, SMAD4, CTNNB1, PTGS2, PTEN, DUSP13
9	pancreatitis	22.7	STK11, SMAD4, CTNNB1, PTGS2, PTEN, DUSP13
10	carcinoma	22.6	STK11, SMAD4, CTNNB1, PTGS2, PTEN, DUSP13
11	mutyh-associated polyposis	13.2	SMAD4, APC
12	familial pancreatic cancer	13.1	STK11, SMAD4
13	bile duct cancer	13.1	APC, SMAD4
14	hemangioma of lung	13.1	PTEN, STK11
15	intussusception	13.1	STK11, APC
16	ovarian clear cell adenocarcinoma	13.0	SMAD4, PTEN
17	brachydactyly type a2	13.0	BMPR1A, BMP2
18	hereditary hemorrhagic telangiectasia	13.0	BMPR1A, SMAD4
19	carney complex	13.0	STK11, PTEN
20	intestinal neoplasm	13.0	APC, PTGS2
21	cowden disease	12.9	STK11, PTEN, BMPR1A
22	cystic teratoma	12.9	PTGS2, PTEN
23	fibrodysplasia ossificans progressiva	12.8	BMPR1A, BMP2
24	gliosarcoma	12.8	PTGS2, PTEN
25	progressive myoclonus epilepsy	12.8	DUSP13, APC
26	vulvar cancer	12.8	PTEN, PTGS2
27	spondylolisthesis	12.8	BMP2, PTGS2
28	birt-hogg-dube syndrome	12.8	CTNNB1, PTEN
29	testicular germ cell tumor	12.7	STK11, SMAD4, APC
30	desmoid disease	12.7	CTNNB1, APC
31	gardner syndrome	12.7	CTNNB1, APC
32	hemimegalencephaly	12.7	PTEN, CTNNB1
33	mayer-rokitansky-kuster-hauser syndrome	12.7	STK11, PTEN, APC
34	cerebellar liponeurocytoma	12.7	APC, CTNNB1
35	breast metaplastic carcinoma	12.7	APC, CTNNB1
36	male germ cell tumor	12.6	BMP2, STK11
37	bile duct mucinous adenocarcinoma	12.5	PTEN, PTGS2
38	brachydactyly	12.5	BMP2, BMPR1A, APC
39	pilomatrixoma	12.5	CTNNB1, BMP2
40	papilloma	12.5	STK11, PTGS2, PTEN
41	pancreatoblastoma	12.4	SMAD4, CTNNB1, APC
42	small intestine adenocarcinoma	12.4	SMAD4, CTNNB1, APC
43	non-small cell lung carcinoma	12.4	BMP2, PTGS2, STK11
44	sclerosing hemangioma	12.4	STK11, CTNNB1, PTEN
45	hepatic adenoma	12.4	STK11, CTNNB1, APC
46	turcot syndrome	12.3	CTNNB1, PTEN, APC
47	hepatocellular cancer	12.3	CTNNB1, PTEN, APC
48	thyroid cancer, follicular	12.3	APC, PTEN, CTNNB1
49	hemangioma	12.3	PTEN, CTNNB1, STK11
50	pancreatic endocrine tumors	12.3	SMAD4, CTNNB1, PTGS2

Clinical features from OMIM: 174900

Approved drugs:

Drug clinical trials:

Genetic tests related to juvenile polyposis syndrome:

id	Genetic test	Affiliating Genes
1	Juvenile Polyposis Syndrome clinical/research	BMPR1A, SMAD4

MalaCards organs/tissues related to juvenile polyposis syndrome:

²²

MGI Mouse Phenotypes related to juvenile polyposis syndrome:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	10.0	STK11, BMPR1A
2	embryogenesis phenotype	MP:0005380	9.5	APC, CTNNB1, STK11
3	integument phenotype	MP:0010771	9.4	APC, CTNNB1, STK11
4	normal phenotype	MP:0002873	9.2	BMP2, BMPR1A, SMAD4, STK11
5	pigmentation phenotype	MP:0001186	8.6	PTEN, APC, CTNNB1, BMPR1A
6	hearing/vestibular/ear phenotype	MP:0005377	8.5	CTNNB1, BMPR1A, BMP2, APC
7	limbs/digits/tail phenotype	MP:0005371	8.2	CTNNB1, PTEN, APC, BMPR1A, BMP2
8	mortality/aging	MP:0010768	8.1	BMP2, BMPR1A, SMAD4, APC, STK11, PTEN
9	no phenotypic analysis	MP:0003012	8.0	APC, PTGS2, STK11, CTNNB1
10	renal/urinary system phenotype	MP:0005367	7.8	CTNNB1, PTGS2, APC, STK11, SMAD4, PTEN
11	vision/eye phenotype	MP:0005391	7.8	STK11, PTEN, APC, BMPR1A, PTGS2, CTNNB1
12	tumorigenesis	MP:0002006	7.6	SMAD4, BMPR1A, APC, PTEN, PTGS2, CTNNB1
13	muscle phenotype	MP:0005369	7.6	STK11, SMAD4, PTGS2, PTEN, CTNNB1, APC
14	endocrine/exocrine gland phenotype	MP:0005379	7.5	PTEN, PTGS2, STK11, BMPR1A, SMAD4, APC
15	skeleton phenotype	MP:0005390	7.5	PTGS2, CTNNB1, PTEN, APC, BMPR1A, BMP2
16	hematopoietic system phenotype	MP:0005397	7.4	BMPR1A, STK11, SMAD4, CTNNB1, PTGS2, PTEN
17	behavior/neurological phenotype	MP:0005386	7.4	STK11, BMPR1A, APC, PTEN, PTGS2, CTNNB1
18	digestive/alimentary phenotype	MP:0005381	7.3	BMP2, APC, PTGS2, PTEN, CTNNB1, SMAD4
19	immune system phenotype	MP:0005387	7.2	SMAD4, CTNNB1, PTGS2, PTEN, APC, BMPR1A
20	reproductive system phenotype	MP:0005389	7.0	APC, STK11, BMP2, BMPR1A, SMAD4, CTNNB1
21	cardiovascular system phenotype	MP:0005385	6.9	BMP2, BMPR1A, APC, PTEN, PTGS2, CTNNB1
22	nervous system phenotype	MP:0003631	6.9	BMP2, PTGS2, SMAD4, STK11, CTNNB1, PTEN
23	cellular phenotype	MP:0005384	6.9	BMP2, BMPR1A, CTNNB1, STK11, APC, SMAD4
24	growth/size phenotype	MP:0005378	6.9	SMAD4, STK11, BMP2, APC, PTEN, PTGS2
25	homeostasis/metabolism phenotype	MP:0005376	6.8	BMP2, APC, PTEN, PTGS2, CTNNB1, STK11

Articles related to juvenile polyposis syndrome:

(show all 15)

id	Title	Authors	Year	Affiliating Genes
1	SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome. (20682711)	Langeveld D.... Brosens L.A.	2010	SMAD4
2	Increased cyclooxygenase-2 expression in juvenile polyposis syndrome. (19124115)	van Hattem W.A.... Offerhaus G.J.	2009	PTGS2
3	Efficacy of meloxicam in juvenile polyposis syndrome . A case report (19642502)	Lorusso M.... Lionetti P.	2009	PTGS2
4	Pediatric juvenile polyposis syndromes: an update. (19463221)	Huang S.C.... Erdman S.H.	2009	BMPR1A, PTEN, STK11
5	Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome. (18160401)	Kotzsch A.... Mueller T.D.	2008	BMPR1A, BMP2
6	High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. (17873119)	Aretz S.... Friedl W.	2007	BMPR1A, PTEN, SMAD4
7	Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. (17325551)	Kurland J.E.... Huang S.C.	2007	PTGS2
8	Mutation screening in juvenile polyposis syndrome. (16436638)	Pyatt R.E.... Prior T.W.	2006	BMPR1A, SMAD4
9	Low prevalence of loss of heterozygosity and SMAD4 mutations in sporadic and familial juvenile polyposis syndrome-associated juvenile polyps. (15447767)	Fogt F.... Odze R.	2004	SMAD4
10	Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. (11536076)	Zhou X.-P.... Eng C.	2001	BMPR1A
11	Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. (10446110)	Bevan S.... Tomlinson I.	1999	SMAD4
12	Immunolocalization of beta catenin in intestinal polyps of Peutz-Jeghers and juvenile polyposis syndromes. (10560353)	Back W.... Bleyl U.	1999	CTNNB1
13	Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. (9811934)	Houlston R.... Tomlinson I.	1998	SMAD4
14	Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. (9371495)	Marsh D.J.... Eng C.	1997	PTEN, DUSP13
15	Juvenile Polyposis Syndrome (20301642)	Larsen Haidle J.... Howe J.R.	1993	BMPR1A, SMAD4

Genes related to juvenile polyposis syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SMAD4	SMAD family member 4	11.1	Summaries, Publications
2	BMPR1A	bone morphogenetic protein receptor, type IA	11.0	Publications
3	STK11	serine/threonine kinase 11	11.0	Publications
4	PTEN	phosphatase and tensin homolog	11.0	Publications
5	APC	adenomatous polyposis coli	11.0
6	DUSP13	dual specificity phosphatase 13	11.0	Publications
7	BMP2	bone morphogenetic protein 2	11.0	Publications
8	PTGS2	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	11.0	Publications
9	CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa	11.0	Publications

Pathways related to juvenile polyposis syndrome according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Glioblastoma Multiforme36	9.8	APC, PTEN
2	TOB in Osteoblast Signaling36	9.7	BMP2, BMPR1A
3	Signaling by BMP38	9.5	BMP2, BMPR1A, SMAD4
4	Cardiomyocyte Differentiation through BMP Receptors36	9.4	BMPR1A, BMP2
5	TGF-beta signaling pathway20	9.4	BMPR1A, SMAD4, BMP2
6	Endometrial cancer20	9.3	PTEN, CTNNB1, APC
7	Human Embryonic Stem Cell Pluripotency36	9.3	APC, BMPR1A, BMP2
8	Wnt signaling pathway20	9.2	CTNNB1, APC, SMAD4
9	Basal cell carcinoma20	9.1	APC, BMP2, CTNNB1
10	Pathways in cancer20	8.9	BMP2, SMAD4, CTNNB1, PTEN
11	Factors Promoting Cardiogenesis in Vertebrates36	8.8	CTNNB1, APC, BMPR1A, BMP2
12	Colorectal Cancer Metastasis36	8.7	PTGS2, APC, CTNNB1
13	WNT Signaling36	8.7	APC, PTGS2, CTNNB1
14	Nanog in Mammalian ESC Pluripotency36	8.6	CTNNB1, BMP2, APC
15	ILK Signaling36	8.2	CTNNB1, PTGS2, BMP2, PTEN
16	Molecular Mechanisms of Cancer36	8.0	APC, BMP2, BMPR1A, CTNNB1, PTEN, STK11

Compounds related to juvenile polyposis syndrome according to GeneDecks:

(show top 50)    (show all 56)

id	Compound	Score	Top Affiliating Genes
1	rapamycin32 42	10.9	STK11, BMP2
2	methylazoxymethanol acetate32	9.9	APC, CTNNB1
3	1-hydroxyanthraquinone32	9.9	APC, CTNNB1
4	samp32	9.9	CTNNB1, APC
5	1,2-dimethylhydrazine32	9.9	CTNNB1, APC
6	azoxymethane32	9.8	APC, CTNNB1
7	estrogen32	9.8	BMP2, APC
8	2-amino-3-methylimidazo(4,5-f)quinoline32	9.8	APC, CTNNB1
9	mononucleotide32	9.8	PTEN, APC
10	sodium bisulfite32	9.7	CTNNB1, APC
11	5-methylcytosine32 18	10.5	STK11, APC
12	phip32	9.5	APC, CTNNB1
13	mg 13232 42	10.5	PTEN, CTNNB1, SMAD4
14	ketorolac32 9 9	11.4	PTGS2, BMP2
15	gw966232	9.4	PTGS2, PTEN
16	nimesulide32 42 9 9	12.4	CTNNB1, PTGS2
17	piroxicam32 42 9 9	12.3	APC, PTGS2
18	etodolac32 9 9	11.3	CTNNB1, PTGS2
19	lovastatin32 42 9 9	12.3	BMP2, PTEN, CTNNB1
20	dihydrotestosterone32 9 18 9	12.2	BMP2, SMAD4, CTNNB1
21	crcs32	9.2	APC, PTEN, SMAD4, CTNNB1
22	rofecoxib32 9 9	11.1	PTGS2, CTNNB1
23	5-aza-2deoxycytidine32	9.1	CTNNB1, APC, PTEN, STK11
24	exisulind32	9.1	CTNNB1, PTGS2, APC
25	gefitinib32 34 9 9	12.1	PTEN, CTNNB1, PTGS2
26	sulindac32 9 9	11.1	CTNNB1, PTGS2, APC
27	glycogen32 18	10.1	APC, STK11, CTNNB1, PTEN
28	celecoxib32 42 34 9 18 9	14.1	PTGS2, CTNNB1, APC
29	tgf beta132	9.0	CTNNB1, BMP2, PTEN, SMAD4
30	fatty acid32	9.0	STK11, PTEN, CTNNB1, APC
31	vitamin d32	8.9	BMP2, PTEN, CTNNB1, APC
32	paraffin32	8.8	APC, STK11, PTEN, CTNNB1, SMAD4
33	wortmannin32 42	9.8	BMP2, PTEN, CTNNB1, APC
34	resveratrol32 9 18 9	11.8	CTNNB1, PTGS2, BMP2
35	curcumin32	8.7	APC, CTNNB1, PTGS2
36	alanine32	8.6	PTEN, BMP2, STK11, SMAD4, CTNNB1
37	glucose32	8.6	BMP2, PTEN, SMAD4, STK11, APC
38	testosterone32 9 18 9	11.5	APC, BMP2, PTEN, SMAD4, CTNNB1
39	oligonucleotide32	8.5	PTEN, SMAD4, CTNNB1, BMP2, APC
40	arginine32	8.4	SMAD4, CTNNB1, PTEN, DUSP13, BMP2
41	genistein32 9 18 9	11.4	CTNNB1, BMP2, PTGS2, PTEN
42	progesterone32 42 9 18 9	12.4	DUSP13, PTEN, CTNNB1, APC, BMP2
43	pd 98,05932	8.2	CTNNB1, PTGS2, PTEN, BMP2, SMAD4
44	pge232	8.1	BMP2, APC, PTEN, PTGS2, CTNNB1
45	cycloheximide32	8.1	PTGS2, CTNNB1, APC, PTEN, BMP2
46	tyrosine32	7.9	APC, SMAD4, DUSP13, BMP2, CTNNB1, PTEN
47	vegf32	7.8	STK11, CTNNB1, BMP2, PTEN, PTGS2, SMAD4
48	lipid32	7.8	BMP2, STK11, PTEN, DUSP13, APC
49	threonine32	7.4	SMAD4, BMP2, BMPR1A, APC, DUSP13, PTEN
50	serine32	7.4	APC, DUSP13, PTEN, CTNNB1, SMAD4, BMPR1A

Cellular components related to juvenile polyposis syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	APC-Axin-1-beta-catenin complex	GO:034742	9.6	CTNNB1, APC
2	Axin-APC-beta-catenin-GSK3B complex	GO:034747	9.5	CTNNB1, APC
3	lateral plasma membrane	GO:016328	9.5	CTNNB1, APC
4	cell-cell adherens junction	GO:005913	9.2	APC, CTNNB1
5	protein complex	GO:043234	8.6	PTGS2, BMP2, STK11
6	cytoplasm	GO:005737	6.5	STK11, SMAD4, CTNNB1, PTGS2, PTEN, DUSP13

Biological processes related to juvenile polyposis syndrome according to GeneDecks:

(show all 18)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of SMAD protein import into nucleus	GO:060391	10.0	BMPR1A, SMAD4
2	positive regulation of transforming growth factor beta receptor signaling pathway	GO:030511	10.0	SMAD4, STK11
3	negative regulation of epithelial cell proliferation involved in prostate gland development	GO:060770	9.9	STK11, APC
4	developmental growth	GO:048589	9.9	BMPR1A, SMAD4
5	SMAD protein signal transduction	GO:060395	9.8	SMAD4, BMP2
6	positive regulation of epithelial to mesenchymal transition	GO:010718	9.7	BMP2, SMAD4
7	positive regulation of mesenchymal cell proliferation	GO:002053	9.6	BMPR1A, CTNNB1
8	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:010862	9.5	SMAD4, BMPR1A, BMP2
9	BMP signaling pathway	GO:030509	9.5	BMP2, BMPR1A, SMAD4
10	cellular response to organic cyclic compound	GO:071407	9.3	BMP2, CTNNB1
11	epithelial to mesenchymal transition	GO:001837	9.2	CTNNB1, BMP2
12	positive regulation of bone mineralization	GO:030501	9.2	BMP2, BMPR1A
13	bone mineralization	GO:030282	9.1	BMP2, PTGS2
14	canonical Wnt receptor signaling pathway	GO:060070	9.0	PTEN, CTNNB1, STK11, APC
15	in utero embryonic development	GO:001701	9.0	BMPR1A, CTNNB1, SMAD4, BMP2
16	positive regulation of transcription, DNA-dependent	GO:045893	8.9	CTNNB1, BMPR1A, BMP2, SMAD4
17	positive regulation of apoptotic process	GO:043065	8.3	CTNNB1, APC, BMP2, PTGS2
18	negative regulation of cell proliferation	GO:008285	7.3	CTNNB1, STK11, SMAD4, PTGS2, PTEN, APC

Molecular functions related to juvenile polyposis syndrome according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	I-SMAD binding	GO:070411	9.7	SMAD4, CTNNB1
2	R-SMAD binding	GO:070412	9.6	CTNNB1, SMAD4
3	protein tyrosine/serine/threonine phosphatase activity	GO:008138	9.6	DUSP13, PTEN
4	cadherin binding	GO:045296	9.2	APC, CTNNB1
5	SMAD binding	GO:046332	9.1	CTNNB1, BMPR1A, BMP2
6	enzyme binding	GO:019899	8.7	PTGS2, PTEN, CTNNB1
7	protein homodimerization activity	GO:042803	8.3	SMAD4, PTGS2, BMPR1A, BMP2