Juvenile Polyposis Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

JPS MCID: JVN014 MIFTS: 62	Juvenile Polyposis Syndrome (JPS) Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Juvenile Polyposis Syndrome

MalaCards integrated aliases for Juvenile Polyposis Syndrome:

Name: Juvenile Polyposis Syndrome ⁵⁸ ¹² ²⁵ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶ ³⁸ ³⁰ ⁵⁶ ⁶ ¹⁵ ⁷⁴

Juvenile Intestinal Polyposis ⁵⁸ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Jps ⁵⁸ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Jip ⁵⁸ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Juvenile Polyposis Syndrome, Infantile Form ⁵⁸ ¹³

Juvenile Gastrointestinal Polyposis ⁶⁰ ⁷⁴

Pji ⁵⁸ ⁵⁴

Polyposis, Familial, of Entire Gastrointestinal Tract ⁵⁸

Polyposis Familial of Entire Gastrointestinal Tract ⁵⁴

Polyposis, Juvenile Intestinal; Pji ⁵⁸

Juvenile Intestinal Polyposis; Jip ⁵⁸

Polyposis, Juvenile Intestinal ⁵⁸

Polyposis Juvenile Intestinal ⁵⁴

Polyposis Syndrome, Juvenile ⁴¹

Juvenile Polyposis ⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

juvenile polyposis syndrome:
Inheritance autosomal dominant inheritance

GeneReviews:

²⁵

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Gastrointestinal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁶⁰

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0050787

OMIM ⁵⁸ 174900

KEGG ³⁸ H01023

ICD10 via Orphanet ³⁵ D12.6

UMLS via Orphanet ⁷⁵ C0345893

Orphanet ⁶⁰ ORPHA2929

MedGen ⁴³ C0345893 C1832940 C1868081

UMLS ⁷⁴ C0345893 C4025294

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Summaries for Juvenile Polyposis Syndrome

NIH Rare Diseases : ⁵⁴ 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.

MalaCards based summary : Juvenile Polyposis Syndrome, also known as juvenile intestinal polyposis, is related to juvenile polyposis of infancy and polyposis, skin pigmentation, alopecia, and fingernail changes. An important gene associated with Juvenile Polyposis Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and TGF-beta signaling pathway. The drugs Metformin and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and pancreas, and related phenotypes are failure to thrive and anemia

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 : ²⁶ 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 : ⁵⁸ 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 syndrome-1 (158350). 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 : ⁷⁶ 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.

Wikipedia : ⁷⁷ Juvenile polyposis syndrome is a syndrome characterized by the appearance of multiple juvenile polyps in... more...

GeneReviews: NBK1469

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Related Diseases for Juvenile Polyposis Syndrome

Diseases in the Juvenile Polyposis Syndrome family:

Juvenile Polyposis of Infancy

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

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	juvenile polyposis of infancy	32.2	BMPR1A PTEN
2	polyposis, skin pigmentation, alopecia, and fingernail changes	30.2	BMPR1A PTEN
3	chromosome 10q23 deletion syndrome	30.2	BMPR1A PTEN
4	congenital heart defects, hamartomas of tongue, and polysyndactyly	29.7	PTEN STK11
5	cowden syndrome 1	29.7	BMPR1A MUTYH PTEN
6	peutz-jeghers syndrome	29.0	APC PTEN SMAD4 STK11
7	gastric cancer	28.8	APC MUTYH PTEN PTGS2 SMAD4
8	adenocarcinoma	28.5	APC PTEN PTGS2 SMAD4 STK11
9	colorectal cancer	28.0	APC MUTYH PTEN PTGS2 SMAD4 STK11
10	breast cancer	27.9	APC BMPR1A PTEN PTGS2 SMAD4 STK11
11	generalized juvenile polyposis/juvenile polyposis coli	12.3
12	prosthetic joint infection	12.1
13	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	11.5
14	telangiectasia, hereditary hemorrhagic, type 4	11.2
15	chromosome 10q22.3-q23.2 deletion syndrome	11.2
16	periodontitis, aggressive, 1	11.1
17	parkinson disease 2, autosomal recessive juvenile	11.1
18	telangiectasis	10.3
19	familial colorectal cancer type x	10.3	BMPR1A SMAD4
20	blood group, junior system	10.2
21	hereditary hemorrhagic telangiectasia	10.2
22	hypoglycemia	10.2
23	nasopharyngeal carcinoma	10.2
24	hereditary mixed polyposis syndrome	10.2	BMPR1A PTGS2
25	blood group, kidd system	10.1
26	japanese encephalitis	10.1
27	esophagus adenocarcinoma	10.1	PTGS2 SMAD4
28	venous malformations, multiple cutaneous and mucosal	10.1	PTEN SMAD4
29	spondylolisthesis	10.0	BMP2 PTGS2
30	gastrointestinal carcinoma	10.0
31	bowenoid papulosis	10.0
32	neurofibromatosis, type i	10.0
33	neurofibromatosis, type iv, of riccardi	10.0
34	polyposis, gastric	10.0
35	cowden syndrome	10.0
36	pilomatrixoma	9.9	BMP2 MUTYH
37	brachydactyly, type a2	9.9	BMP2 BMPR1A
38	cholangiocarcinoma	9.9	PTEN PTGS2 SMAD4
39	cleft palate, isolated	9.9
40	renal cell carcinoma, nonpapillary	9.9
41	ovarian cancer	9.9
42	prostate cancer	9.9
43	retinoblastoma	9.9
44	small cell cancer of the lung	9.9
45	lung cancer	9.9
46	prostate cancer, hereditary, 8	9.9
47	prostate cancer, hereditary, 6	9.9
48	arthritis	9.9
49	pemphigus foliaceus	9.9
50	lymphoma	9.9

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

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Symptoms & Phenotypes for Juvenile Polyposis Syndrome

Human phenotypes related to Juvenile Polyposis Syndrome:

⁶⁰ ³³ (show top 50) (show all 58)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	failure to thrive ⁶⁰ ³³	frequent (33%)	Occasional (29-5%)	HP:0001508
2	anemia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001903
3	abdominal pain ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002027
4	multiple gastric polyps ³³	frequent (33%)		HP:0004394
5	hematochezia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002573
6	intussusception ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002576
7	rectal prolapse ³³	occasional (7.5%)		HP:0002035
8	duodenal adenocarcinoma ³³	occasional (7.5%)		HP:0006771
9	clubbing ³³	occasional (7.5%)		HP:0001217
10	colon cancer ⁶⁰ ³³	very rare (1%)	Occasional (29-5%)	HP:0003003
11	macrocephaly ⁶⁰		Occasional (29-5%)
12	hypertelorism ⁶⁰		Very rare (<4-1%)
13	low-set ears ⁶⁰		Very rare (<4-1%)
14	depressed nasal bridge ⁶⁰		Very rare (<4-1%)
15	abnormal facial shape ⁶⁰		Occasional (29-5%)
16	intellectual disability, mild ⁶⁰		Occasional (29-5%)
17	hypokalemia ³³			HP:0002900
18	pulmonary arterial hypertension ⁶⁰		Very rare (<4-1%)
19	transient ischemic attack ⁶⁰		Very rare (<4-1%)
20	edema ⁶⁰		Occasional (29-5%)
21	arteriovenous malformation ⁶⁰		Very rare (<4-1%)
22	growth delay ⁶⁰		Occasional (29-5%)
23	multiple lipomas ⁶⁰		Very rare (<4-1%)
24	mucosal telangiectasiae ⁶⁰		Very rare (<4-1%)
25	visceral angiomatosis ⁶⁰		Very rare (<4-1%)
26	chronic fatigue ⁶⁰		Occasional (29-5%)
27	downslanted palpebral fissures ⁶⁰		Very rare (<4-1%)
28	narrow mouth ⁶⁰		Very rare (<4-1%)
29	gastrointestinal hemorrhage ⁶⁰		Occasional (29-5%)
30	diarrhea ⁶⁰		Occasional (29-5%)
31	large forehead ⁶⁰		Occasional (29-5%)
32	epistaxis ⁶⁰		Very rare (<4-1%)
33	neoplasm of the pancreas ⁶⁰		Very rare (<4-1%)
34	stomach cancer ⁶⁰		Occasional (29-5%)
35	neoplasm of the small intestine ⁶⁰		Occasional (29-5%)
36	hamartomatous polyposis ⁶⁰		Frequent (79-30%)
37	neoplasm of the gastrointestinal tract ⁶⁰		Occasional (29-5%)
38	spontaneous, recurrent epistaxis ⁶⁰		Occasional (29-5%)
39	hypoalbuminemia ³³			HP:0003073
40	hypoproteinemia ⁶⁰		Very rare (<4-1%)
41	intestinal polyp ⁶⁰		Very frequent (99-80%)
42	juvenile colonic polyposis ⁶⁰		Obligate (100%)
43	rectal polyposis ⁶⁰		Obligate (100%)
44	juvenile gastrointestinal polyposis ⁶⁰		Obligate (100%)
45	hamartomatous stomach polyps ⁶⁰		Occasional (29-5%)
46	rectocele ⁶⁰		Occasional (29-5%)
47	protein-losing enteropathy ⁶⁰		Very rare (<4-1%)
48	hemangioblastoma ⁶⁰		Very rare (<4-1%)
49	short chin ⁶⁰		Occasional (29-5%)
50	brain abscess ⁶⁰		Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

Growth:
failure to thrive

Heme:
anemia

Limbs:
digital clubbing

Lab:
hypokalemia
hypoalbuminemia
pedunculated spherical smooth polyps contain numerous large cystic spaces filled with a grayish or yellowish mucus surrounded by copious reddish stroma

G I:
abdominal pain
diarrhea
rectal prolapse
intussusception
multiple gastrointestinal polyps
more

Oncology:
colon cancer (cancer not arising in polyps)

Clinical features from OMIM:

174900

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

²⁷

#	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	9.46	APC BMPR1A 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 Juvenile Polyposis Syndrome:

⁴⁷ (show all 25)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.22	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
2	cellular	MP:0005384	10.21	APC BMP2 BMPR1A MUTYH PTEN PTGS2
3	embryo	MP:0005380	10.19	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
4	growth/size/body region	MP:0005378	10.18	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
5	behavior/neurological	MP:0005386	10.17	APC BMPR1A PTEN PTGS2 SMAD4 SMAD9
6	homeostasis/metabolism	MP:0005376	10.16	APC BMP2 BMPR1A MUTYH PTEN PTGS2
7	immune system	MP:0005387	10.15	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
8	mortality/aging	MP:0010768	10.15	APC BMP2 BMPR1A MUTYH PTEN PTGS2
9	hematopoietic system	MP:0005397	10.11	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
10	nervous system	MP:0003631	10.09	APC BMP2 BMPR1A MUTYH PTEN PTGS2
11	craniofacial	MP:0005382	10.08	APC BMP2 BMPR1A SMAD4 SMAD9 STK11
12	digestive/alimentary	MP:0005381	10.08	APC BMP2 PTEN PTGS2 SMAD4 STK11
13	endocrine/exocrine gland	MP:0005379	10.06	APC BMPR1A PTEN PTGS2 SMAD4 STK11
14	neoplasm	MP:0002006	10.06	APC BMPR1A MUTYH PTEN PTGS2 SMAD4
15	muscle	MP:0005369	10.02	APC BMPR1A PTEN PTGS2 SMAD4 SMAD9
16	integument	MP:0010771	10.01	APC BMPR1A PTEN PTGS2 SMAD4 STK11
17	limbs/digits/tail	MP:0005371	10	APC BMP2 BMPR1A PTEN SMAD4 SMAD9
18	normal	MP:0002873	9.97	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
19	liver/biliary system	MP:0005370	9.91	APC PTEN PTGS2 SMAD4 STK11
20	reproductive system	MP:0005389	9.86	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
21	renal/urinary system	MP:0005367	9.72	APC PTEN PTGS2 SMAD4 STK11
22	no phenotypic analysis	MP:0003012	9.71	BMPR1A PTGS2 SMAD9 STK11
23	respiratory system	MP:0005388	9.55	BMPR1A PTEN PTGS2 SMAD9 STK11
24	skeleton	MP:0005390	9.5	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
25	vision/eye	MP:0005391	9.02	APC BMPR1A PTEN PTGS2 STK11

Sources

Drugs & Therapeutics for Juvenile Polyposis Syndrome

Drugs for Juvenile Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Metformin

Approved

657-24-9

14219 4091

Synonyms:

1,1-Dimethyl biguanide

1,1-Dimethylbiguanide

3-(diaminomethylidene)-1,1-dimethylguanidine

657-24-9

AC1L1HE4

AKOS000121065

Apo-Metformin

BIDD:GT0697

BPBio1_000009

BRD-K79602928-003-04-1

BSPBio_000007

BSPBio_002314

C07151

C4H11N5

CAS-1115-70-4

CCRIS 9321

CHEBI:6801

CHEMBL1431

CID4091

cMAP_000016

D04966

DB00331

Diabetosan

Diabex

Dimethylbiguanid

Dimethylbiguanide

Dimethylbiguanidine

Dimethyldiguanide

Dimethylguanylguanidine

DMGG

EINECS 211-517-8

Fluamine

Flumamine

Fortamet

Gen-Metformin

Glifage

Gliguanid

Glucophage

Glucophage XR

Glumetza

Glycon

Haurymelin

HMS2089D19

HSCI1_000295

Islotin

KBio2_002310

KBio2_004878

KBio2_007446

KBio3_002790

KBioGR_002310

KBioSS_002312

LA-6023

LS-43899

Melbin

metformin

Metformin

Metformin (USAN/INN)

Metformin [USAN:INN:BAN]

Metformin HCL

metformin hydrochloride

Metformina

Metformina [DCIT]

Metformina [Spanish]

Metformine

Metformine [INN-French]

Metforminum

Metforminum [INN-Latin]

Metiguanide

MolPort-002-929-560

MolPort-004-288-389

MolPort-005-767-418

Mylan-Metformin

N,N-Dimethylbiguanide

N,N-Dimethyldiguanide

N,N-dimethylimidodicarbonimidic diamide

N1,N1-Dimethylbiguanide

NCGC00016564-01

NCGC00016564-02

NCGC00016564-03

NNDG

Novo-Metformin

Nu-Metformin

PMS-Metformin

Prestwick0_000004

Prestwick1_000004

Prestwick2_000004

Prestwick3_000004

Ran-Metformin

Ratio-Metformin

Riomet

S2483_Selleck

Sandoz Metformin

Siofor

SPBio_001928

STK011633

T5895664

Teva-Metformin

UNII-9100L32L2N

ZINC12859773

Pancrelipase

Approved, Investigational

53608-75-6

Cola

Hormones

Gastrointestinal Agents

pancreatin

Interventional clinical trials:

#	Name	Status	NCT ID
1	Hereditary Colorectal and Associated Tumor Registry Study	Completed	NCT00633607
2	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 Hyperplastic Polyposis	Recruiting	NCT01987518
3	Blood Markers of Early Pancreas Cancer	Recruiting	NCT03568630
4	Familial Investigations of Childhood Cancer Predisposition	Recruiting	NCT03050268

Search NIH Clinical Center for Juvenile Polyposis Syndrome

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Genetic Tests for Juvenile Polyposis Syndrome

Genetic tests related to Juvenile Polyposis Syndrome:

#	Genetic test	Affiliating Genes
1	Juvenile Polyposis Syndrome ³⁰	BMPR1A SMAD4

Sources

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

⁴²

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

Sources

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

(show top 50) (show all 96)

#	Title	Authors	Year
1	Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome. ( 30873576 )	Schiemer M...Hasselblatt P	2019
2	Multiorgan Transplantation as a Viable Treatment Option in Infantile Juvenile Polyposis Syndrome. ( 30134330 )	Chandan OC...Vo H	2019
3	Juvenile polyposis syndrome: A case report. ( 31108454 )	P?rez-Castilla A...Oksenberg D	2019
4	Re: "Assessing the long term manometric outcomes in patients with previous laparoscopic anorectoplasty (LARP) and posterior sagittal anorectoplasty (PSARP)" by Chung, et al. JPS. Vol. 53, no. 10 October 2018 pp1933-1936. ( 30851957 )	Pe?a A...Bischoff A	2019
5	Novel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report. ( 29634562 )	Bruceta M...Karamchandani K	2018
6	Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation. ( 30521991 )	Chung AD...Mortel? KJ	2018
7	The role of prophylactic gastrectomy in patients with juvenile polyposis syndrome. ( 30217482 )	Jaoude JB...Abboud B	2018
8	Management of Juvenile Polyposis Syndromes in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group. ( 30585890 )	Cohen S...Durno C	2018
9	Malignant tumors associated with juvenile polyposis syndrome in Japan. ( 28550623 )	Ishida H...Iwama T	2018
10	Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing. ( 28600700 )	Silva-Smith R...Sussman DA	2018
11	Absence of SMAD9v90m mutation in juvenile polyposis syndrome. ( 28424237 )	Graafmans LDC...Brosens LAA	2017
12	Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene. ( 28428902 )	Ahmed A...Alsaleem B	2017
13	Corrigendum to "Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene". ( 29576884 )	Ahmed A...Alsaleem B	2017
14	The IJP-JPS workshop for young prosthodontic educators. ( 28027873 )	Baba K	2017
15	Many thanks to the previous JPS editors. ( 28242027 )	Holcomb GW	2017
16	JPS drives prosthodontics with pride and responsibility. ( 28802555 )	Ichikawa T	2017
17	Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )	Kalia SS...Miller DT	2017
18	Chromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome. ( 27535890 )	Waisbourd-Zinman O...Piccoli DA	2016
19	Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. ( 26826408 )	Shaco-Levy R...Bronner MP	2016
20	Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1. ( 25951773 )	Brosens LA...Giardiello FM	2016
21	Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1--Response to Letter to the Editor. ( 26040559 )	Agaimy A...Vieth M	2016
22	Massive Gastric Polyposis Associated with Juvenile Polyposis Syndrome. ( 27301526 )	Yasuda M...Sakaida I	2016
23	A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease. ( 27375208 )	Burmester JK...Yale SH	2016
24	Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant. ( 27631205 )	Hsiao YH...Yeung CY	2016
25	Carcinosarcoma with Choriocarcinomatous and Osteosarcomatous Differentiation in a Patient with Juvenile Polyposis Syndrome. ( 26500724 )	Parra-Medina R...Polo F	2015
26	Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance. ( 25846706 )	Alimi A...Weiss JM	2015
27	Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. ( 25931195 )	Heald B...Zahka K	2015
28	A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome. ( 25432397 )	Lin HC...Anupindi SA	2015
29	Genotype-defined cancer risk in juvenile polyposis syndrome. ( 25389115 )	Aytac E...Church JM	2015
30	A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia. ( 25705527 )	Johansson J...Stenmark Askmalm M	2015
31	Discovery of LRRK2 inhibitors using sequential in silico joint pharmacophore space (JPS) and ensemble docking. ( 25998502 )	Lang CA...Cuny GD	2015
32	ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. ( 25645574 )	Syngal S...American College of Gastroenterology	2015
33	A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )	Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee	2015
34	Juvenile polyposis syndrome. ( 25097590 )	Cichy W...Plawski A	2014
35	Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome. ( 25129392 )	Yamaguchi J...Arai M	2014
36	JPS Global Workshop Kyoto 2012: introduction. ( 24924236 )	Koyano K	2014
37	Current status and expected future direction of the prosthodontic speciality in India. JPS Global Workshop Kyoto 2012. ( 24974236 )	Gandhi UV	2014
38	[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer]. ( 25354001 )	Jelsig AM...Ousager LB	2014
39	Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. ( 23239472 )	Teekakirikul P...Lin AE	2013
40	Eosinophilic esophagitis in a child with juvenile polyposis syndrome: is there a link? ( 23969542 )	Lapsia S...Morganstern J	2013
41	A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. ( 22993021 )	Hiljadnikova Bajro M...Dimovski AJ	2013
42	Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation. ( 26181832 )	Honda Y...Aoyagi Y	2013
43	Changing trends in authorship patterns in the JPS: publish or perish. ( 23414876 )	Pint?r A	2013
44	Consensus statement from JPS Global Workshop Kyoto 2012. ( 23850218 )	Koyano K...Yatani H	2013
45	Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. ( 21572342 )	Schwenter F...Durno CA	2012
46	The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. ( 22810475 )	O'Malley M...Burke CA	2012
47	Giant stomach secondary to juvenile polyposis syndrome. ( 22005895 )	Wong-Chong N...McCart JA	2012
48	Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred. ( 22617360 )	Schwetz V...H?genauer C	2012
49	A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity? ( 22748914 )	Piepoli A...Andriulli A	2012
50	Juvenile polyposis syndrome presenting with familial gastric cancer and massive gastric polyposis. ( 22826269 )	Stadler ZK...Schattner M	2012

Sources

Genes for Juvenile Polyposis Syndrome

Genes related to Juvenile Polyposis Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SMAD4	SMAD Family Member 4	Protein Coding	1371.17	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9582123 10398437 11920286 (more) 20301642 15604628 25394175 25645574 27854360 15754356 8898652 9285566 9811934 16613914 19014666 16152648 17873119 15378062 11352305 15063137 9811934 11741830
2	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1361.43	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	11381269 20301642 15604628 (more) 25394175 25645574 27854360 11073535 11536076 12630959 16152648 17873119 15378062
3	PTEN	Phosphatase And Tensin Homolog	Protein Coding	43.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications (show sections)	19381654 9399897 11005140 (more) 9661881 15378062 17768394 11052475 9371495 19463221
4	STK11	Serine/Threonine Kinase 11	Protein Coding	24.93	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	10740625
5	SMAD9	SMAD Family Member 9	Protein Coding	21.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
6	BMP2	Bone Morphogenetic Protein 2	Protein Coding	21.05	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	17.72	Novoseek inferred ⁵⁶	11005140 10740625
8	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	16.85	GeneCards inferred via : Publications (show sections)
9	MUTYH	MutY DNA Glycosylase	Protein Coding	16.48	DISEASES inferred ¹⁵

Sources

Variations for Juvenile Polyposis Syndrome

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

⁷⁶ (show all 11)

#	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	rs113169116
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 Juvenile Polyposis Syndrome:

⁶ (show top 50) (show all 1879)

#	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.715C> T (p.Gln239Ter)	single nucleotide variant	Pathogenic	rs199476084	GRCh38	Chromosome 10, 86917173: 86917173
4	BMPR1A	NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)	single nucleotide variant	Pathogenic	rs199476085	GRCh37	Chromosome 10, 88677027: 88677027
5	BMPR1A	NM_004329.2(BMPR1A): c.812G> A (p.Trp271Ter)	single nucleotide variant	Pathogenic	rs199476085	GRCh38	Chromosome 10, 86917270: 86917270
6	BMPR1A	BMPR1A, 1-BP DEL, 961C	deletion	Pathogenic
7	BMPR1A	NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)	single nucleotide variant	Likely pathogenic	rs199476086	GRCh37	Chromosome 10, 88679073: 88679073
8	BMPR1A	NM_004329.2(BMPR1A): c.1013C> A (p.Ala338Asp)	single nucleotide variant	Likely pathogenic	rs199476086	GRCh38	Chromosome 10, 86919316: 86919316
9	BMPR1A	NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)	single nucleotide variant	Likely pathogenic	rs199476087	GRCh37	Chromosome 10, 88659587: 88659587
10	BMPR1A	NM_004329.2(BMPR1A): c.370T> C (p.Cys124Arg)	single nucleotide variant	Likely pathogenic	rs199476087	GRCh38	Chromosome 10, 86899830: 86899830
11	BMPR1A	NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)	single nucleotide variant	Pathogenic	rs199476088	GRCh37	Chromosome 10, 88679187: 88679187
12	BMPR1A	NM_004329.2(BMPR1A): c.1127G> A (p.Cys376Tyr)	single nucleotide variant	Pathogenic	rs199476088	GRCh38	Chromosome 10, 86919430: 86919430
13	BMPR1A	NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)	single nucleotide variant	Uncertain significance	rs199476089	GRCh37	Chromosome 10, 88683199: 88683199
14	BMPR1A	NM_004329.2(BMPR1A): c.1409T> C (p.Met470Thr)	single nucleotide variant	Uncertain significance	rs199476089	GRCh38	Chromosome 10, 86923442: 86923442
15	SMAD4	SMAD4, 4-BP DEL, NT1372	deletion	Pathogenic
16	SMAD4	SMAD4, 2-BP DEL	deletion	Pathogenic
17	SMAD4	SMAD4, 1-BP INS	insertion	Pathogenic
18	SMAD4	NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)	single nucleotide variant	Pathogenic	rs80338963	GRCh37	Chromosome 18, 48591918: 48591918
19	SMAD4	NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys)	single nucleotide variant	Pathogenic	rs80338963	GRCh38	Chromosome 18, 51065548: 51065548
20	SMAD4	SMAD4, 2-BP DEL, 959AC	deletion	Pathogenic
21	SMAD4	NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)	single nucleotide variant	Pathogenic	rs80338964	GRCh37	Chromosome 18, 48593411: 48593411
22	SMAD4	NM_005359.5(SMAD4): c.1162C> T (p.Gln388Ter)	single nucleotide variant	Pathogenic	rs80338964	GRCh38	Chromosome 18, 51067041: 51067041
23	SMAD4	NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del	deletion	Pathogenic		GRCh38	Chromosome 18, 51013658: 51078467
24	SMAD4	NM_005359.5(SMAD4): c.(?_-17093)_(1659_?)del	deletion	Pathogenic		GRCh37	Chromosome 18, 48540028: 48604837
25	SMAD4	NM_005359.5(SMAD4): c.905-32T=	single nucleotide variant	Benign		GRCh37	Chromosome 18, 48586204: 48586204
26	SMAD4	NM_005359.5(SMAD4): c.905-32T=	single nucleotide variant	Benign		GRCh38	Chromosome 18, 51059834: 51059834
27	SMAD4	NM_005359.5(SMAD4): c.354G> A (p.Ala118=)	single nucleotide variant	Benign/Likely benign	rs145988618	GRCh37	Chromosome 18, 48575160: 48575160
28	SMAD4	NM_005359.5(SMAD4): c.354G> A (p.Ala118=)	single nucleotide variant	Benign/Likely benign	rs145988618	GRCh38	Chromosome 18, 51048790: 51048790
29	SMAD4	NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)	insertion	Pathogenic	rs377767324	GRCh37	Chromosome 18, 48575179: 48575180
30	SMAD4	NM_005359.5(SMAD4): c.373_374insAT (p.Ser125Asnfs)	insertion	Pathogenic	rs377767324	GRCh38	Chromosome 18, 51048809: 51048810
31	SMAD4	NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)	duplication	Pathogenic	rs377767325	GRCh37	Chromosome 18, 48575181: 48575187
32	SMAD4	NM_005359.5(SMAD4): c.375_381dupTGTCTGT (p.Val128Cysfs)	duplication	Pathogenic	rs377767325	GRCh38	Chromosome 18, 51048811: 51048817
33	SMAD4	NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)	single nucleotide variant	Pathogenic	rs377767326	GRCh37	Chromosome 18, 48575209: 48575209
34	SMAD4	NM_005359.5(SMAD4): c.403C> T (p.Arg135Ter)	single nucleotide variant	Pathogenic	rs377767326	GRCh38	Chromosome 18, 51048839: 51048839
35	SMAD4	NM_005359.5(SMAD4): c.425-6A> G	single nucleotide variant	Uncertain significance	rs377767327	GRCh37	Chromosome 18, 48575659: 48575659
36	SMAD4	NM_005359.5(SMAD4): c.425-6A> G	single nucleotide variant	Uncertain significance	rs377767327	GRCh38	Chromosome 18, 51049289: 51049289
37	SMAD4	NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)	deletion	Pathogenic	rs377767328	GRCh37	Chromosome 18, 48575670: 48575671
38	SMAD4	NM_005359.5(SMAD4): c.430_431delTC (p.Ser144Argfs)	deletion	Pathogenic	rs377767328	GRCh38	Chromosome 18, 51049300: 51049301
39	SMAD4	NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)	single nucleotide variant	Pathogenic	rs377767329	GRCh37	Chromosome 18, 48575677: 48575677
40	SMAD4	NM_005359.5(SMAD4): c.437T> A (p.Leu146Ter)	single nucleotide variant	Pathogenic	rs377767329	GRCh38	Chromosome 18, 51049307: 51049307
41	SMAD4	NM_005359.5(SMAD4): c.516_527del (p.Ser173_Gly176del)	deletion	Pathogenic	rs377767330	GRCh37	Chromosome 18, 48581212: 48581223
42	SMAD4	NM_005359.5(SMAD4): c.516_527del (p.Ser173_Gly176del)	deletion	Pathogenic	rs377767330	GRCh38	Chromosome 18, 51054842: 51054853
43	SMAD4	NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)	single nucleotide variant	Pathogenic	rs377767331	GRCh37	Chromosome 18, 48581229: 48581229
44	SMAD4	NM_005359.5(SMAD4): c.533C> G (p.Ser178Ter)	single nucleotide variant	Pathogenic	rs377767331	GRCh38	Chromosome 18, 51054859: 51054859
45	SMAD4	NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)	single nucleotide variant	Pathogenic	rs377767332	GRCh37	Chromosome 18, 48581234: 48581234
46	SMAD4	NM_005359.5(SMAD4): c.538C> T (p.Gln180Ter)	single nucleotide variant	Pathogenic	rs377767332	GRCh38	Chromosome 18, 51054864: 51054864
47	SMAD4	NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)	deletion	Pathogenic	rs377767333	GRCh37	Chromosome 18, 48581304: 48581304
48	SMAD4	NM_005359.5(SMAD4): c.608delC (p.Pro203Hisfs)	deletion	Pathogenic	rs377767333	GRCh38	Chromosome 18, 51054934: 51054934
49	SMAD4	NM_005359.5(SMAD4): c.668-?_1659+?del	deletion	Pathogenic		GRCh37	Chromosome 18, 48584495: 48604837
50	SMAD4	NM_005359.5(SMAD4): c.692dupG (p.Ser232Glnfs)	duplication	Pathogenic	rs377767334	GRCh37	Chromosome 18, 48584519: 48584519

Cosmic variations for Juvenile Polyposis Syndrome:

⁹ (show top 50) (show all 94)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location
1	COSM6932	TP53	large intestine,colon,adenoma,NS	c.733G>A	p.G245S	17:7674230-7674230
2	COSM45138	TP53	large intestine,colon,adenoma,NS	c.853G>C	p.E285Q	17:7673767-7673767
3	COSM45076	TP53	large intestine,rectum,adenoma,NS	c.432G>C	p.Q144H	17:7675180-7675180
4	COSM43606	TP53	large intestine,rectum,adenoma,NS	c.734G>A	p.G245D	17:7674229-7674229
5	COSM10870	TP53	large intestine,rectum,adenoma,NS	c.523C>G	p.R175G	17:7675089-7675089
6	COSM44603	TP53	large intestine,colon,other,hamartoma	c.835G>A	p.G279R	17:7673785-7673785
7	COSM43687	TP53	large intestine,colon,adenoma,NS	c.641A>G	p.H214R	17:7674890-7674890
8	COSM10648	TP53	large intestine,rectum,adenoma,NS	c.524G>A	p.R175H	17:7675088-7675088
9	COSM10957	TP53	large intestine,colon,adenoma,NS	c.733G>C	p.G245R	17:7674230-7674230
10	COSM43535	TP53	large intestine,colon,adenoma,NS	c.391A>C	p.N131H	17:7675221-7675221
11	COSM10663	TP53	large intestine,colon,adenoma,NS	c.916C>T	p.R306*	17:7673704-7673704
12	COSM21355	STK11	large intestine,rectum,adenoma,NS	c.842C>T	p.P281L	19:1221320-1221320
13	COSM21354	STK11	large intestine,colon,adenoma,NS	c.511G>A	p.G171S	19:1220419-1220419
14	COSM14240	SMAD4	large intestine,colon,adenoma,NS	c.988G>C	p.E330Q	18:51065455-51065455
15	COSM14241	SMAD4	large intestine,colon,adenoma,NS	c.1064A>C	p.D355A	18:51065531-51065531
16	COSM14122	SMAD4	large intestine,rectum,adenoma,NS	c.1082G>A	p.R361H	18:51065549-51065549
17	COSM5985099	RB1	large intestine,rectum,adenoma,NS	c.1644A>C	p.K548N	13:48381392-48381392
18	COSM569	NRAS	large intestine,colon,adenoma,NS	c.37G>C	p.G13R	1:114716124-114716124
19	COSM584	NRAS	large intestine,rectum,adenoma,NS	c.182A>G	p.Q61R	1:114713908-114713908
20	COSM6503131	MSH2	large intestine,colon,adenoma,NS	c.589A>G	p.K197E	2:47410316-47410316
21	COSM520	KRAS	large intestine,rectum,adenoma,NS	c.35G>T	p.G12V	12:25245350-25245350
22	COSM521	KRAS	large intestine,rectum,adenoma,NS	c.35G>A	p.G12D	12:25245350-25245350
23	COSM532	KRAS	large intestine,rectum,adenoma,NS	c.38G>A	p.G13D	12:25245347-25245347
24	COSM553	KRAS	large intestine,rectum,adenoma,NS	c.182A>T	p.Q61L	12:25227342-25227342
25	COSM516	KRAS	large intestine,colon,adenoma,NS	c.34G>T	p.G12C	12:25245351-25245351
26	COSM554	KRAS	large intestine,rectum,adenoma,NS	c.183A>C	p.Q61H	12:25227341-25227341
27	COSM517	KRAS	large intestine,colon,adenoma,NS	c.34G>A	p.G12S	12:25245351-25245351
28	COSM522	KRAS	large intestine,colon,adenoma,NS	c.35G>C	p.G12A	12:25245350-25245350
29	COSM518	KRAS	large intestine,colon,adenoma,NS	c.34G>C	p.G12R	12:25245351-25245351
30	COSM555	KRAS	large intestine,rectum,adenoma,NS	c.183A>T	p.Q61H	12:25227341-25227341
31	COSM27895	GNAS	large intestine,rectum,adenoma,NS	c.602G>A	p.R201H	20:58909366-58909366
32	COSM27887	GNAS	large intestine,colon,adenoma,NS	c.601C>T	p.R201C	20:58909365-58909365
33	COSM27058	FBXW7	large intestine,rectum,adenoma,NS	c.1436G>T	p.R479L	4:152326214-152326214
34	COSM22932	FBXW7	large intestine,colon,adenoma,NS	c.1393C>T	p.R465C	4:152328233-152328233
35	COSM22975	FBXW7	large intestine,rectum,adenoma,NS	c.1513C>T	p.R505C	4:152326137-152326137
36	COSM22971	FBXW7	large intestine,colon,adenoma,NS	c.832C>T	p.R278*	4:152337831-152337831
37	COSM30597	FBXW7	large intestine,rectum,adenoma,NS	c.892C>T	p.P298S	4:152332689-152332689
38	COSM22965	FBXW7	large intestine,colon,adenoma,NS	c.1394G>A	p.R465H	4:152328232-152328232
39	COSM25812	FBXW7	large intestine,colon,adenoma,NS	c.1514G>A	p.R505H	4:152326136-152326136
40	COSM30598	FBXW7	large intestine,colon,adenoma,NS	c.1558G>A	p.D520N	4:152326092-152326092
41	COSM21689	EGFR	large intestine,colon,adenoma,NS	c.1787C>T	p.P596L	7:55165344-55165344
42	COSM5667	CTNNB1	large intestine,colon,adenoma,NS	c.134C>T	p.S45F	3:41224646-41224646
43	COSM5687	CTNNB1	large intestine,rectum,adenoma,NS	c.109T>C	p.S37P	3:41224621-41224621
44	COSM5671	CTNNB1	large intestine,colon,adenoma,NS	c.101G>A	p.G34E	3:41224613-41224613
45	COSM5664	CTNNB1	large intestine,colon,adenoma,NS	c.121A>G	p.T41A	3:41224633-41224633
46	COSM4675394	CTNNB1	large intestine,colon,adenoma,NS	c.490G>A	p.D164N	3:41225202-41225202
47	COSM5674	CTNNB1	large intestine,colon,adenoma,NS	c.104T>G	p.I35S	3:41224616-41224616
48	COSM5663	CTNNB1	large intestine,colon,adenoma,NS	c.133T>C	p.S45P	3:41224645-41224645
49	COSM5682	CTNNB1	large intestine,colon,adenoma,NS	c.97T>C	p.S33P	3:41224609-41224609
50	COSM21493	BRAF	large intestine,colon,adenoma,NS	c.1766C>T	p.T589I	7:140753369-140753369

Sources

Expression for Juvenile Polyposis Syndrome

Search GEO for disease gene expression data for Juvenile Polyposis Syndrome.

Sources

Pathways for Juvenile Polyposis Syndrome

Pathways related to Juvenile Polyposis Syndrome according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	Cytokine-cytokine receptor interaction	hsa04060
2	TGF-beta signaling pathway	hsa04350
3	Cell cycle	hsa04110
4	Wnt signaling pathway	hsa04310
5	Adherens junction	hsa04520
6	Pathways in cancer	hsa05200
7	Colorectal cancer	hsa05210

Pathways related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

(show all 30)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁵ Show member pathways ILK Signaling ⁶⁵ MAPK Signaling ⁶⁵ Molecular Mechanisms of Cancer ⁶⁵ Rho Family GTPases ⁶⁵	13.5	APC BMP2 BMPR1A PTEN PTGS2 SMAD4
2	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.75	APC PTEN PTGS2 STK11
3	Pathways in cancer ³⁸	12.58	APC BMP2 PTEN PTGS2 SMAD4
4	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	12.3	APC BMPR1A SMAD4
5	MicroRNAs in cancer ³⁸	12.28	APC PTEN PTGS2
6	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.27	APC PTEN STK11
7	DREAM Repression and Dynorphin Expression ⁶⁵ Show member pathways BMP Pathway ⁶⁵ Caspase Cascade ⁶⁵ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁷ nNOS Signaling in Skeletal Muscle ⁶⁵ TOB in Osteoblast Signaling ⁶⁵	12.26	BMP2 BMPR1A SMAD4 SMAD9
8	Human Embryonic Stem Cell Pluripotency ⁶⁵ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁵	12.1	APC BMP2 BMPR1A SMAD4 SMAD9
9	Wnt / Hedgehog / Notch ⁴	12.02	APC SMAD4 SMAD9
10	Colorectal Cancer Metastasis ⁶⁵	11.96	APC PTGS2 SMAD4
11	Hippo signaling pathway ³⁸	11.89	APC BMP2 BMPR1A SMAD4
12	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.87	PTEN SMAD4 STK11
13	Integrated Breast Cancer Pathway ¹	11.86	BMPR1A PTEN SMAD4 STK11
14	DNA Damage Response (only ATM dependent) ¹	11.77	APC PTEN SMAD4
15	Signaling pathways regulating pluripotency of stem cells ³⁸	11.77	APC BMPR1A SMAD4 SMAD9
16	Senescence and Autophagy in Cancer ¹	11.71	BMP2 PTEN SMAD4
17	TGF-beta signaling pathway (KEGG) ³⁸	11.43	BMP2 BMPR1A SMAD4 SMAD9
18	Copper homeostasis ¹	11.38	APC PTEN
19	Hepatitis C and Hepatocellular Carcinoma ¹	11.35	PTGS2 SMAD4
20	Heart Development ¹	11.32	BMP2 BMPR1A SMAD4
21	LKB1 signaling events ¹	11.25	SMAD4 STK11
22	Ovarian tumor domain proteases ⁶⁷	11.19	APC PTEN
23	Signaling by BMP ⁶⁷ Show member pathways BMP receptor signaling ¹ Bone Morphogenic Protein (BMP) Signalling and Regulation ¹	11.11	BMP2 BMPR1A SMAD4 SMAD9
24	Extracellular vesicle-mediated signaling in recipient cells ¹	11.08	APC SMAD4
25	ALK1 signaling events ¹ Show member pathways ALK1 pathway ¹	11.03	SMAD4 SMAD9
26	Differentiation of white and brown adipocyte ¹	10.99	BMP2 SMAD9
27	Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex ¹	10.92	PTEN SMAD4
28	BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation ¹	10.66	BMP2 SMAD9
29	ALK2 signaling events ¹	10.57	SMAD4 SMAD9
30	Cardiomyocyte Differentiation through BMP Receptors ⁶⁵	10.27	BMP2 BMPR1A SMAD4 SMAD9

Sources

GO Terms for Juvenile Polyposis Syndrome

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

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

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

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein deubiquitination	GO:0016579	9.77	APC PTEN SMAD4
2	heart development	GO:0007507	9.76	BMP2 BMPR1A PTEN
3	positive regulation of apoptotic process	GO:0043065	9.71	APC BMP2 PTEN PTGS2
4	in utero embryonic development	GO:0001701	9.69	BMP2 BMPR1A SMAD4
5	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.65	APC BMP2 STK11
6	positive regulation of cell death	GO:0010942	9.63	APC PTGS2
7	negative regulation of cell cycle	GO:0045786	9.62	BMP2 PTGS2
8	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.62	BMP2 SMAD4
9	branching involved in ureteric bud morphogenesis	GO:0001658	9.61	BMP2 SMAD4
10	bone mineralization	GO:0030282	9.61	BMP2 PTGS2
11	transforming growth factor beta receptor signaling pathway	GO:0007179	9.61	BMPR1A SMAD4 SMAD9
12	chondrocyte differentiation	GO:0002062	9.6	BMP2 BMPR1A
13	positive regulation of bone mineralization	GO:0030501	9.58	BMP2 BMPR1A
14	endoderm development	GO:0007492	9.57	BMPR1A SMAD4
15	developmental growth	GO:0048589	9.56	BMPR1A SMAD4
16	BMP signaling pathway	GO:0030509	9.56	BMP2 BMPR1A SMAD4 SMAD9
17	positive regulation of transforming growth factor beta receptor signaling pathway	GO:0030511	9.55	SMAD4 STK11
18	outflow tract septum morphogenesis	GO:0003148	9.54	BMPR1A SMAD4
19	SMAD protein signal transduction	GO:0060395	9.54	BMP2 SMAD4 SMAD9
20	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.52	BMP2 BMPR1A
21	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.5	BMP2 BMPR1A SMAD4
22	endocardial cushion morphogenesis	GO:0003203	9.49	BMP2 BMPR1A
23	positive regulation of SMAD protein signal transduction	GO:0060391	9.46	BMPR1A SMAD4
24	negative regulation of cell proliferation	GO:0008285	9.43	APC BMP2 PTEN PTGS2 SMAD4 STK11
25	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	GO:1901522	9.33	BMP2 SMAD4 SMAD9
26	cellular response to BMP stimulus	GO:0071773	8.92	BMP2 BMPR1A SMAD4 SMAD9

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.28	APC BMP2 BMPR1A MUTYH PTEN PTGS2

Sources

Sources for Juvenile Polyposis Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Juvenile Polyposis Syndrome (JPS)

Aliases & Classifications for Juvenile Polyposis Syndrome

MalaCards integrated aliases for Juvenile Polyposis Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

Summaries for Juvenile Polyposis Syndrome

Related Diseases for Juvenile Polyposis Syndrome

Diseases in the Juvenile Polyposis Syndrome family:

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

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

Symptoms & Phenotypes for Juvenile Polyposis Syndrome

Human phenotypes related to Juvenile Polyposis Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Juvenile Polyposis Syndrome:

Drugs & Therapeutics for Juvenile Polyposis Syndrome

Drugs for Juvenile Polyposis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Juvenile Polyposis Syndrome

Genetic tests related to Juvenile Polyposis Syndrome:

Anatomical Context for Juvenile Polyposis Syndrome

MalaCards organs/tissues related to Juvenile Polyposis Syndrome:

Publications for Juvenile Polyposis Syndrome

Articles related to Juvenile Polyposis Syndrome:

Genes for Juvenile Polyposis Syndrome

Genes related to Juvenile Polyposis Syndrome (2 elite genes):

Variations for Juvenile Polyposis Syndrome

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

ClinVar genetic disease variations for Juvenile Polyposis Syndrome:

Cosmic variations for Juvenile Polyposis Syndrome:

Expression for Juvenile Polyposis Syndrome

Pathways for Juvenile Polyposis Syndrome

Pathways related to Juvenile Polyposis Syndrome according to KEGG:

Pathways related to Juvenile Polyposis Syndrome according to GeneCards Suite gene sharing:

GO Terms for Juvenile Polyposis Syndrome

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

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

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

Sources for Juvenile Polyposis Syndrome