Juvenile polyposis syndrome

A hereditary form of intestinal polyposis where POLYPS first appear by age 20. Diagnosis is based on the presence of HARMATOMA - like gastrointestinal polyps that become malignant lesions by age 35 in 20% of cases. Germline mutations in the SMAD4 and BMPR1A genes have been identified. OMIM: 174900

Also Known As:

Bmpr1a-Related Juvenile Polyposis; Juvenile Polyposis Coli; Juvenile Polyposis Of Infancy; Juvenile Polyposis Of Stomach; Juvenile Polyposis, Infantile; Juvenile intestinal polyposis; Polyposis, familial, of entire gastrointestinal tract; Polyposis, juvenile intestinal; Smad4-Related Juvenile Polyposis

Networked: 42 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Polyps
2.	Neoplasms (Cancer)
3.	Hemorrhage
4.	Hamartoma
5.	Gastric Polyposis

Experts

1.	Busoni, Veronica B: 2 articles (01/2021 - 01/2019)
2.	Fox, Victor L: 2 articles (01/2021 - 01/2019)
3.	Mas, Emmanuel: 2 articles (01/2021 - 02/2019)
4.	Bronzini, Francesca: 2 articles (05/2009 - 03/2009)
5.	Lionetti, Paolo: 2 articles (05/2009 - 03/2009)
6.	Lorusso, Monica: 2 articles (05/2009 - 03/2009)
7.	Mangiantini, Francesca: 2 articles (05/2009 - 03/2009)
8.	Pozzi, Elena: 2 articles (05/2009 - 03/2009)
9.	Bell, Lisa Dillon: 1 article (02/2022)
10.	Bernat, John A: 1 article (02/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Juvenile polyposis syndrome:

1.	Meloxicam (Mobic)FDA LinkGeneric 05/01/2009 - "Efficacy of meloxicam in a patient with juvenile polyposis syndrome." 03/01/2009 - "[Efficacy of meloxicam in juvenile polyposis syndrome. "
2.	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/01/2023 - "Bone morphogenetic protein receptor type 1A (BMPR1A) is responsible for two individual Mendelian diseases: juvenile polyposis syndrome and hereditary mixed polyposis syndrome 2, which have overlapping phenotypes. " 01/01/2023 - "Mutations in Bone Morphogenetic Protein (BMP) Receptor (BMPR)1A and SMAD4 are detected in 50% of juvenile polyposis syndrome (JPS) patients, who develop stroma-rich hamartomatous polyps. " 10/01/2009 - "Mutations in the bone morphogenetic protein (BMP) signaling pathway are responsible for the subset of juvenile polyposis syndrome (JPS) that develops hamartomas in the gastrointestinal tract. " 09/01/2014 - "While the aberrantly activated Wnt/β-catenin pathway plays a critical initiating role in CRC development, disruption of the bone morphogenetic protein (BMP) pathway causes juvenile polyposis syndrome, suggesting that BMP signaling may play a role in CRC development. " 12/22/2010 - "In both CRCs, MSI and MSS, we found somatic mutations in the intracellular kinase domain of bone morphogenetic protein receptor 1A, BMPR1A, a gene where so far germline mutations are associated with juvenile polyposis syndrome, and show that the mutations functionally impair the protein function. "
3.	Sirolimus (Rapamycin)FDA Link 02/01/2022 - "In the following clinical case of infantile juvenile polyposis syndrome (JPS), administration of a pharmacologic agent sirolimus was associated with reduced disease burden without need for bowel resection. " 02/01/2022 - "Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy." 02/01/2019 - "Sustainable Positive Response to Sirolimus in Juvenile Polyposis of Infancy." 01/01/2019 - "Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus." 01/01/2022 - "Potential impact of sirolimus on gastric polyposis burden in juvenile polyposis syndrome."
4.	Transforming Growth Factors (Transforming Growth Factor)IBA 01/01/2022 - "Juvenile polyposis syndrome (JPS) is one of the hereditary polyposis syndromes caused by abnormal regulation of transforming growth factor β signaling because of mutations in BMPR1A and SMAD4. " 01/01/2015 - "Germline mutations in SMAD4 and BMPR1A disrupt the transforming growth factor β signal transduction pathway, and are associated with juvenile polyposis syndrome. " 11/01/2012 - "Juvenile polyposis syndrome with gastric involvement may mimic Ménétrier's disease, which is correlated to transforming growth factor (TGF)α overproduction and PDX1 upregulation in the gastric fundus. " 01/01/2018 - "The transforming growth factor β (TGFβ) signaling pathway governs physiological homeostasis in the gastrointestinal system and its deregulation can lead to a diverse range of human pathologies including juvenile polyposis syndrome and tumor initiation, progression, and metastasis. "
5.	Cyclooxygenase 2 (Cyclooxygenase-2)IBA 01/01/2009 - "Increased cyclooxygenase-2 expression in juvenile polyposis syndrome." 03/01/2007 - "Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A."
6.	Transforming Growth Factor beta (TGF-beta)IBA 09/01/2007 - "Our findings provide a mechanistic link between PAH and other diseases associated with the BMP/TGF-beta pathways, such as hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome." 05/01/2001 - "Juvenile polyposis syndrome (JPS) results from germ-line mutations in the SMAD-4 gene (18q21.1) that encodes for an enzyme involved in transforming growth factor beta(TGF-beta) signal transduction. "
7.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/01/2019 - "HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and phosphatase and tensin homolog hamartomatous tumor syndromes (PHTS). " 01/01/2021 - "Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). "
8.	TensinsIBA 01/01/2019 - "HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and phosphatase and tensin homolog hamartomatous tumor syndromes (PHTS). " 01/01/2021 - "Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). "
9.	Type I Bone Morphogenetic Protein ReceptorsIBA 01/01/2021 - "Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumor suppressor genes: phosphatase and tensin homolog deleted on chromosome 10 (PTEN) and bone morphogenetic protein receptor type IA (BMPR1A). "
10.	Bone Morphogenetic Protein ReceptorsIBA 01/01/2013 - "The importance of BMP receptor Ia (BMPRIa) mediated signaling in the development of craniofacial organs, including the tooth and palate, has been well illuminated in several mouse models of loss of function, and by its mutations associated with juvenile polyposis syndrome and facial defects in humans. "

Therapies and Procedures

1.	Colectomy 10/01/1979 - "Juvenile polyposis coli in a 6-yr-old girl produced such severe chronic complications that total colectomy was required. " 10/01/2008 - "Single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through without covering ileostomy and pouch formation is a safe and definitive treatment for juvenile polyposis coli if the patient selection is appropriate." 01/01/2005 - "When indicated, the surgical choices in symptomatic juvenile polyposis syndrome patients are colectomy with ileorectal anastomosis or proctocolectomy with pouch. " 11/01/2010 - "We present the case of a 3-year-old girl with juvenile polyposis of infancy who eventually died from mesenteric artery thrombosis during surgical colectomy. " 10/01/2010 - "Her medical history was significant for a diagnosis of juvenile polyposis syndrome at the age of 14 resulting in a transverse colectomy, and a diagnosis of Crohn's disease in her residual colon at the age of 35 resulting in a total colectomy. "
2.	Gastrectomy 01/01/2019 - "The role of prophylactic gastrectomy in patients with juvenile polyposis syndrome." 12/01/2022 - "[A Case of Laparoscopic Total Gastrectomy for Juvenile Polyposis of Stomach with Synchronous Multiple Intramucosal Carcinomas]." 01/01/2019 - "We introduce a case of juvenile polyposis syndrome presented with massive gastric polyposis that requires a total gastrectomy. " 12/01/2022 - "Based on these findings, a laparoscopic total gastrectomy with D1 lymph node dissection was performed for suspected juvenile polyposis of stomach with severe anemia. "
3.	Restorative Proctocolectomy 01/01/2005 - "When indicated, the surgical choices in symptomatic juvenile polyposis syndrome patients are colectomy with ileorectal anastomosis or proctocolectomy with pouch. " 08/01/1989 - "Juvenile polyp in an ileoanal J pouch following restorative proctocolectomy for juvenile polyposis coli."
4.	Colonic Pouches (S Pouch) 08/01/1989 - "Juvenile polyp in an ileoanal J pouch following restorative proctocolectomy for juvenile polyposis coli."
5.	Fontan Procedure (Fontan Operation) 10/09/2023 - "The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. "