A Polipose Gastrointestinal Juvenil (JIP) é uma condição rara onde surgem pólipos juvenis hamartomatosos (que são crescimentos geralmente benignos) no sistema digestório, ou seja, no estômago e nos intestinos.
Introdução
O que você precisa saber de cara
A Polipose Gastrointestinal Juvenil (JIP) é uma condição rara onde surgem pólipos juvenis hamartomatosos (que são crescimentos geralmente benignos) no sistema digestório, ou seja, no estômago e nos intestinos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 84 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. May promote the expression of HAMP, potentially via its interaction with
Cell membraneCell surface
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.
Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5-trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3 (PubMed:16824732, PubMed:26504226, PubM
CytoplasmNucleusNucleus, PML bodyCell projection, dendritic spinePostsynaptic densitySecreted
Cowden syndrome 1
An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and est
Cell membrane
Telangiectasia, hereditary hemorrhagic, 1
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response el
CytoplasmNucleus
Pancreatic cancer
A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.
Variantes genéticas (ClinVar)
4,980 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,583 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
38 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de polipose juvenil
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.
Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations (AVMs) in various organs. When linked to mutations in the SMAD4 gene, it also involves multiple hamartomatous polyps; this condition is known as juvenile polyposis syndrome-HHT (JP-HHT) overlap syndrome. Typically considered a bleeding disorder, HHT is associated with an increased risk of vascular thrombosis. Early diagnosis and genotyping can significantly reduce morbidity and mortality in patients with JP-HHT overlap by allowing appropriate screening for complications. Treatment mainly aims to manage symptoms and complications. We present the case of a 32-year-old man exhibiting features of extrahepatic portal venous obstruction with portal hypertension and JP-HHT overlap, along with a review of the literature.
Transcriptomic profiling reveals the role of Hedgehog signaling as a biomarker and in the pathogenesis of Ménétrier's disease.
Both Ménétrier's disease (MD) and juvenile polyposis syndrome (JPS) are rare premalignant conditions that can lead to gastric cancer. MD is an acquired disease without known causative mutations that is characterized by increased expression of an EGF receptor (EGFR) ligand, transforming growth factor-alpha (TGFα), in the stomach. JPS is inherited in an autosomal dominant pattern and is caused by BMPR1A or SMAD4 mutations. Although there are distinct clinico-pathological features that differ between the two diseases, they also share similar features that often lead to misdiagnosis. To identify diagnostic markers for MD and to better understand the pathogenesis of the disease, we performed transcriptomic profiling of stomach tissues from normal (NL), MD, and JPS patients. Comparative analysis between MD and JPS revealed both common and differential gene signatures. Common gene signatures included estrogen receptor signaling, integrin signaling, mTOR signaling, and others, which may be responsible for histopathological similarities. Among differential gene signatures, we found that Hedgehog (Hh) signaling is upregulated in MD and confirmed that protein expression of Hh signaling downstream targets, GLI1 (glioma-associated oncogene homolog 1) and HHIP (Hedgehog-interacting protein), is higher in MD than in JPS, particularly in foveolar cells by immunohistochemistry. We also demonstrated that treatment with an Hh pathway inhibitor partially rescued the histopathological phenotypes in an MD mouse model. This study provides valuable insights into the potential mechanisms underlying the similar clinico-pathological features observed in MD and JPS. We also identified GLI1 and HHIP as diagnostic markers that can help to distinguish MD from JPS. Furthermore, Hh signaling was shown to play an important role in the pathogenesis of MD and may serve as a potential therapeutic target. © 2025 The Pathological Society of Great Britain and Ireland.
Pediatric endoscopic mucosal resection: A 10-year single-center experience.
Endoscopic mucosal resection (EMR) is well established in adult gastroenterology but remains underutilized in pediatrics due to limited data, training opportunities, and equipment. This study presents a 10-year, single-center experience with conventional hot and cold snare EMR, band-assisted (B-EMR), and underwater EMR (U-EMR) techniques in pediatric patients. A retrospective review was conducted of all EMR procedures performed in patients under 21 years of age between 2015 and 2025 at a tertiary care children's hospital. Data on patient demographics, lesion characteristics, procedural details, pathology, and outcomes were collected and analyzed descriptively. Twenty EMRs were performed in 18 patients (mean age 17.1 years, range 3-20). The most common underlying diagnoses included familial adenomatous polyposis (n = 7), sporadic mucosal polyps (n = 4), subepithelial lesions (n = 4), juvenile polyposis syndrome (n = 2), Peutz-Jeghers syndrome (n = 1), and Lynch syndrome (n = 1). Lesions ranged from 6 to 80 mm and were located throughout the gastrointestinal tract, most commonly in the colon (n = 9), duodenum (n = 5), and esophagus (n = 3). Techniques included hot snare EMR (n = 9), cold snare EMR (n = 6), B-EMR (n = 4), and U-EMR (n = 1). Complete resection was achieved in 95% of cases, with one incomplete resection requiring surgical management for adenocarcinoma. B-EMR was safely applied to subepithelial lesions. No delayed complications occurred. EMR is feasible, safe, and effective in pediatric patients for both mucosal and subepithelial lesions. Broader adoption in pediatric practice will require expanded training, multidisciplinary collaboration, and development of pediatric-specific guidelines. These findings support EMR as a valuable therapeutic option in complex pediatric gastrointestinal disease.
Juvenile polyposis syndrome in a child with von Willebrand disease: a case report and literature review.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant genetic disorder characterized by multiple gastrointestinal juvenile polyps. Endoscopic polypectomy is the primary therapeutic approach, minor post-polypectomy bleeding is the most common complication. We report an exceptional case of massive hemorrhage (approximately 400 ml) in a child with JPS.The cause of the post-polypectomy bleeding was relatively rare and was ultimately diagnosed as von Willebrand disease (VWD). A six-year-old girl with JPS and no prior bleeding history underwent endoscopic polypectomy for 11 colorectal polyps.Laboratory tests showed normal platelet count, activated partial thromboplastin time (APTT), prothrombin time (PT), and plasma fibrinogen levels. However, approximately 70 hours after endoscopic polypectomy, she developed hematochezia with significant blood loss (approximately 400 ml). Emergent endoscopic findings did not support technical complications (e.g., clip dislodgement) as the primary etiology of the post-polypectomy hemorrhage.Genetic testing identified a mutation in the von Willebrand factor (VWF) gene [c.1707(exon14)delC, heterozygous], leading to a diagnosis of type 1 von Willebrand disease, which subsequently led to the unexpected post-polypectomy bleeding. The rare case of juvenile polyposis syndrome with von Willebrand disease in a child underscores the necessity of taking extrinsic gastrointestinal factors into account when delayed post-polypectomy bleeding arises following endoscopic polypectomy. Clinicians ought to be watchful for coagulation disorders, such as VWD, which might be manifested through atypical clinical symptoms. Timely identification of the cause of delayed post-polypectomy bleeding can improve prognosis.
A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder caused by pathogenic variants in the mothers against decapentaplegic homolog 4 (SMAD4) and bone morphogenetic protein receptor type 1A (BMPR1A) genes. It is characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. We report a case of a 73-year-old Japanese male with sporadic, gastric-localized JPS harboring a SMAD4 mosaic variant who presented with slowly progressive endoscopic lesions. Endoscopy at the age of 55 revealed erythematous and edematous mucosa in the gastric fundus. During the following 18 years, the patient developed progressive gastric polyposis, leading to refractory anemia and hypoalbuminemia. Genetic testing identified a SMAD4 frameshift mosaic variant (c.1245_1248del (p.Asp415Glufs)) with an allele frequency of 23%. A total gastrectomy with D1 lymphadenectomy was performed, confirming the JPS diagnosis and the identification of a localized gastric adenocarcinoma without lymph node metastasis. This case highlights the unique natural history of JPS with a SMAD4 mosaic variant, which potentially contributes to a slowly progressive phenotype.
Publicações recentes
Hereditary Hemorrhagic Telangiectasia.
Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.
Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening.
Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.
The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
📚 EuropePMC143 artigos no totalmostrando 197
Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.
Clinical journal of gastroenterologyIdentification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening.
Case reports in geneticsParents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.
Journal of genetic counselingThe genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Hereditary cancer in clinical practiceTranscriptomic profiling reveals the role of Hedgehog signaling as a biomarker and in the pathogenesis of Ménétrier's disease.
The Journal of pathologyThe use of whole genome sequencing to study young patients with 100+ adenomas of the colon.
Frontiers in oncologyImprovement in Protein-Losing Gastroenteropathy Due to Gastric Polyposis by Laparoscopic Total Gastrectomy: A Case Report.
Surgical case reportsJuvenile polyposis syndrome with germline SMAD4 mutation: case series in tertiary care and critical review of literature.
Acta gastro-enterologica BelgicaA strawberry-like polyp in the rectum.
Clinics and research in hepatology and gastroenterologyNon-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
BMC cancerDevelopment of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.
Journal of medical geneticsOccurrence of gastric cancer in patients with juvenile polyposis syndrome.
Gastrointestinal endoscopyMultimodal Imaging Diagnosis of Rectal Juvenile Polyposis Syndrome: ERUS-Guided Localization and Pathological Confirmation.
Digestive diseases and sciencesPediatric endoscopic mucosal resection: A 10-year single-center experience.
Journal of pediatric gastroenterology and nutritionRectal Adenocarcinoma in Juvenile Polyposis Syndrome: Insights from Two Case Reports.
The Israel Medical Association journal : IMAJJuvenile polyposis syndrome in a child with von Willebrand disease: a case report and literature review.
Frontiers in pediatrics[Advance in genetics research on Gastrointestinal polyposis syndromes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCurrent Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.
Cancer prevention research (Philadelphia, Pa.)Utility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.
Journal of gastrointestinal and liver diseases : JGLDA Rare Presentation of Juvenile Rectal Polyps in an Adolescent Male With Rectal Bleeding: A Case Report.
CureusA case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.
Clinical journal of gastroenterologyAcute aortic dissection in a patient with Hereditary Hemorrhagic Telangiectasia associated with Juvenile Polyposis due to SMAD4 mutation: case report and literature review.
AngiogenesisCorrigendum to Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis. Gastrointestinal Endoscopy. Volume 97, Issue 3, March 2023, Pages 407-414.e1.
Gastrointestinal endoscopyHereditary Colorectal Cancer: From Diagnosis to Surgical Options.
Clinics in colon and rectal surgeryA Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations.
Human mutationOne hundred years of the St Mark's hospital polyposis registry.
Familial cancerLaparoscopic-assisted Polypectomy: A Promising Minimally-invasive Solution for Endoscopically Irresectable Polyps in Children.
Journal of pediatric surgeryMultiplex immunohistochemistry reveals histological features of three different intestinal polyp subtypes in pediatric patients.
BMC pediatricsArteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4.
Journal of medical geneticsPrevalence and Incidence of Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome in Japan: A Nationwide Epidemiological Survey in 2022.
Journal of gastroenterology and hepatologyOverlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.
Familial cancerPediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.
Clinical cancer research : an official journal of the American Association for Cancer ResearchSuccessful treatment of juvenile polyposis of infancy with sirolimus: a case report.
BMC pediatricsEffect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.
HeliyonClinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.
International journal of molecular sciencesUlcerative Colitis or Not? A Case of Dysplasia, Gastrointestinal Bleeding, and Juvenile Polyposis in a 27-Year-Old Man.
ACG case reports journalDual primary gastric and colorectal cancer: The known hereditary causes and underlying mechanisms.
World journal of gastrointestinal oncologyMassive Gastric Juvenile Polyposis Associated With Intermittent Gastric Outlet Obstruction: A Case Report.
CureusStudying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross and Smad4 Knock-Out Mouse Models.
International journal of molecular sciencesJuvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.
Journal of pediatric gastroenterology and nutritionDeciphering the clinical spectrum of gastric disease in patients with juvenile polyposis syndrome.
Gastrointestinal endoscopyLarge- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.
American journal of medical genetics. Part ASMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
American journal of medical genetics. Part ADe novo brain vascular malformation in an adult with hereditary hemorrhagic telangiectasia and juvenile polyposis overlap syndrome.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationOutcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
European journal of human genetics : EJHGPhenotypic characterisation of SMAD4 variant carriers.
Journal of medical geneticsWill previous antimicrobial therapy reduce the positivity rate of metagenomic next-generation sequencing in periprosthetic joint infections? A clinical study.
Frontiers in cellular and infection microbiologyNonsense suppression induces read-through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer.
Annals of human geneticsJuvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.
Surgical case reportsThe c.386A>C p.(Asn129Thr) variant in SMAD4 is likely to be pathogenic, causing Juvenile Polyposis Syndrome. A case report of a mosaic variant.
Molecular genetics & genomic medicineSMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Hereditary cancer in clinical practiceTranscriptomic Profiling Reveals Claudin 18.2 as a Diagnostic Biomarker of Ménétrier's Disease and the Role of Hedgehog Signaling in Pathogenesis.
bioRxiv : the preprint server for biologySporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.
Clinical journal of gastroenterologyPolyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report.
World journal of gastrointestinal endoscopyHereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.
Cardiology in the youngRisk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls.
GastroenterologyUpdates in the diagnosis and management of non-ampullary small-bowel polyposis.
Best practice & research. Clinical gastroenterologyROTH SPOTS IN A RENDU-OSLER-WEBER SYNDROME.
Retinal cases & brief reportsGastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa.
Pathology internationalCancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls.
United European gastroenterology journalGenotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.
Hereditary cancer in clinical practiceWhole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Familial cancerIdentification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.
Journal of human geneticsA Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report.
JNMA; journal of the Nepal Medical AssociationFailed 2-Stage Revision Knee Arthroplasty for Periprosthetic Joint Infection-Patient Characteristics and Outcomes.
The Journal of arthroplastyClinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.
Journal of the anus, rectum and colonGastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging.
Internal medicine (Tokyo, Japan)Importance of Magnifying Endoscopy in the Diagnosis and Management of Gastric Juvenile Polyposis Syndrome.
Internal medicine (Tokyo, Japan)A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant.
Frontiers in oncologyPolyps and Polyposis Syndromes in Children: Novel Endoscopic Considerations.
Gastrointestinal endoscopy clinics of North AmericaHamartomatous polyps: Diagnosis, surveillance, and management.
World journal of gastroenterologyMultidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease).
Vascular medicine (London, England)Gastrointestinal Bleeding in the Setting of Juvenile Polyposis Syndrome Due to SMAD4 Mutation.
The American surgeonGenetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
International journal of molecular sciencesHereditary polyposis syndromes remain a challenging disease entity: Old dilemmas and new insights.
World journal of gastrointestinal surgery[A Case of Laparoscopic Total Gastrectomy for Juvenile Polyposis of Stomach with Synchronous Multiple Intramucosal Carcinomas].
Gan to kagaku ryoho. Cancer & chemotherapyPeriprosthetic hip infection in octogenarians : a single institution experience of 33 cases.
The bone & joint journalClinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes.
GastroenterologyIron deficiency anemia as the first manifestation of juvenile polyposis syndrome.
Gastroenterologia y hepatologiaRe-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome.
Gastroenterology reportJuvenile polyposis syndrome: A case report.
Clinical case reportsHereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report.
Therapeutic advances in gastroenterologyStrong Hereditary Predispositions to Colorectal Cancer.
GenesA novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Japanese journal of clinical oncologyDistinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Endoscopy international openAn Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes.
ACG case reports journalJuvenile Polyposis Syndrome Complicated With Gastric Outlet Obstruction.
ACG case reports journalA New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Diagnostics (Basel, Switzerland)Loss of bone morphogenetic protein signaling in fibroblasts results in CXCL12-driven serrated polyp development.
Journal of gastroenterologyOccurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis.
Gastrointestinal endoscopyEndoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions.
Cancer management and researchCold snare polypectomy for juvenile polyposis syndrome in a child.
Pediatrics international : official journal of the Japan Pediatric SocietyJuvenile Polyposis of the Stomach.
The American journal of gastroenterologyAdenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.
Clinical and translational gastroenterologyHereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.
Journal of medical geneticsJuvenile polyposis: Focus on less described manifestations.
Best practice & research. Clinical gastroenterologyFamilial and hereditary gastric cancer, an overview.
Best practice & research. Clinical gastroenterologyJuvenile polyposis syndrome: An overview.
Best practice & research. Clinical gastroenterologyVideo technical notes for approaching a unique case of Juvenile Polyposis with massive gastric ingrowth.
Asian journal of surgeryAn additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
American journal of medical genetics. Part AClinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing.
Medical molecular morphologyA case of early gastric cancer in a patient with gastric juvenile polyposis diagnosed by magnifying endoscopy and resected by endoscopic submucosal dissection.
Clinical journal of gastroenterologyFOCAD Indel in a Family With Juvenile Polyposis Syndrome.
Journal of pediatric gastroenterology and nutrition[A case of juvenile gastric polyposis with gastric cancer successfully treated by laparoscopic total gastrectomy -review of 36 reported cases in Japan].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyDiagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
GastroenterologyDiagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.
Gastrointestinal endoscopyA Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease.
CureusPotential impact of sirolimus on gastric polyposis burden in juvenile polyposis syndrome.
Gastrointestinal endoscopyPolygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.
Gastroenterology researchGiant Gastric Folds in Juvenile Polyposis.
Case reports in gastroenterologyJuvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.
Familial cancerPhenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.
Hereditary cancer in clinical practiceGenetic Syndromes Associated with Gastric Cancer.
Gastrointestinal endoscopy clinics of North AmericaA novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyAcquired Juvenile-Type Polyposis Syndrome Presenting After Age 70 Years: Cap Polyposis Syndrome.
The American journal of gastroenterologyMeaningful relationships as a driving force in the experience of parents of a child living with polyposis conditions.
Psychology, health & medicineJuvenile polyposis without a germline variant in SMAD4/BMPR1A: defining a clinically distinct polyposis syndrome.
OncotargetDigital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome.
Acta dermatovenerologica Croatica : ADCSirolimus for the Treatment of Juvenile Polyposis in Childhood.
ACG case reports journalPaediatric polyposis syndromes: burden of disease and current concepts.
Current opinion in pediatricsCase report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene.
Translational pediatricsHamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance.
Journal of digestive diseasesSMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report.
The American journal of case reportsSmall Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations.
International journal of molecular sciencesGastrointestinal: Massive gastric juvenile polyposis.
Journal of gastroenterology and hepatologymTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Human molecular geneticsSMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.
BMJ case reportsRole of Octreotide in Menetrier's Disease: Case Report and Review of Literature.
CureusImportance of early detection of juvenile polyposis syndrome: A case report and literature review.
MedicineNon-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.
CureusPhenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant.
Cancer prevention research (Philadelphia, Pa.)Not all pediatric intestinal polyps are alike.
Acta gastro-enterologica BelgicaChromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Molecular genetics & genomic medicineFamilial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.
BMC medical geneticsJuvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.
Clinical journal of gastroenterologyCancer within the family tree: risks, diagnosis and treatment of juvenile polyposis syndrome.
BMJ case reportsPrevalence of Helicobacter pylori among Sudanese patients diagnosed with colon polyps and colon cancer using immunohistochemistry technique.
BMC research notesSMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience.
International journal of colorectal diseaseJuvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.
BMC gastroenterologyDisease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Genetics in medicine : official journal of the American College of Medical Genetics[New insight into the pathogenesis and treatment of juvenile polyposis syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsA novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome.
Japanese journal of clinical oncologyJuvenile Polyposis Syndrome in a Young Girl from Northern Tanzania.
Case reports in surgeryDiagnosis and management of a solitary colorectal juvenile polyp in an adult during follow-up for ulcerative colitis: A case report.
World journal of gastroenterologyJuvenile polyposis syndrome.
Clinical case reportsA juvenile polyp on colonoscopy, is it premalignant?
Clinical case reportsGain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
American journal of medical genetics. Part AGuidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
GutPolyp Characteristics of Nonsyndromic and Potentially Syndromic Juvenile Polyps: A Retrospective Cohort Analysis.
Journal of pediatric gastroenterology and nutritionPractical management of polyposis syndromes.
Frontline gastroenterologyPatients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.
European journal of medical geneticsHomozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
Molecular genetics & genomic medicineHereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management.
Radiographics : a review publication of the Radiological Society of North America, IncSuccessful Treatment of Juvenile Polyposis of Infancy With Sirolimus.
PediatricsA Rare Case of Juvenile Polyposis Syndrome in a 13-year-old Girl from a Rural Area.
CureusVariable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.
Clinical and translational gastroenterologyBMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?
BMJ case reportsClinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.
Clinical and translational gastroenterologyAssessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Computational biology and chemistryGastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome.
Zeitschrift fur GastroenterologieA case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.
Clinical case reportsManagement of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group.
Journal of pediatric gastroenterology and nutritionCombined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.
Clinical imagingTGF-beta signaling and its targeted therapy in gastrointestinal cancers.
Discovery medicineSustainable Positive Response to Sirolimus in Juvenile Polyposis of Infancy.
Journal of pediatric gastroenterology and nutritionGastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
Virchows Archiv : an international journal of pathologyBone morphogenetic protein receptor signal transduction in human disease.
The Journal of pathologyThe role of prophylactic gastrectomy in patients with juvenile polyposis syndrome.
Clinics and research in hepatology and gastroenterologyMassive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.
Familial cancerMultiorgan Transplantation as a Viable Treatment Option in Infantile Juvenile Polyposis Syndrome.
Journal of pediatric gastroenterology and nutritionJuvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4.
Journal of pediatric geneticsNovel Association of Juvenile Polyposis Syndrome With Atrial Septal Aneurysm and Patent Foramen Ovale: A Case Report.
A&A practiceIntegration of lncRNA and mRNA Transcriptome Analyses Reveals Genes and Pathways Potentially Involved in Calf Intestinal Growth and Development during the Early Weeks of Life.
GenesSystematic screening in hereditary hemorrhagic telangiectasia: a review.
Current opinion in pulmonary medicineHereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.
Seminars in diagnostic pathologyPathology and genetics of hereditary colorectal cancer.
PathologyThe Role of the Surgical Pathologist in the Diagnosis of Gastrointestinal Polyposis Syndromes.
Advances in anatomic pathologyManagement of small bowel polyps: A literature review.
Best practice & research. Clinical gastroenterologyGastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.
Digestive diseases and sciencesMosaicism: Implications for Genetic Counseling and Medical Management.
Clinical journal of oncology nursingCo-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing.
Familial cancerMalignant tumors associated with juvenile polyposis syndrome in Japan.
Surgery todayAssociation of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
European journal of medical geneticsNonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene.
Case reports in pediatricsAbsence of SMAD9v90m mutation in juvenile polyposis syndrome.
Journal of clinical pathologyMassive Gastric Juvenile Polyposis: A Clinicopathologic Study Using SMAD4 Immunohistochemistry.
American journal of clinical pathologyHistorical Perspective on Familial Gastric Cancer.
Cellular and molecular gastroenterology and hepatologyCorrigendum to "Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene".
Case reports in pediatricsMassive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.
HistopathologyHamartomatous Polyps and Associated Syndromes.
Clinics in colon and rectal surgery[Epidemiology of hereditary colorectal cancer].
Nihon rinsho. Japanese journal of clinical medicineProphylactic total gastrectomy in the management of hereditary tumor syndromes.
International journal of colorectal diseaseJuvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.
MedicineSyndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition.
Advances in experimental medicine and biologyChromosome 10q23 Deletion Syndrome: An Overlap of Bannayan-Riley-Ruvalcaba Syndrome and Juvenile Polyposis Syndrome.
Journal of paediatrics and child healthHamartomatous polyps - a clinical and molecular genetic study.
Danish medical journalJuvenile Polyps in Denmark From 1995 to 2014.
Diseases of the colon and rectumAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.
- Transcriptomic profiling reveals the role of Hedgehog signaling as a biomarker and in the pathogenesis of Ménétrier's disease.
- Pediatric endoscopic mucosal resection: A 10-year single-center experience.
- Juvenile polyposis syndrome in a child with von Willebrand disease: a case report and literature review.
- A case of gastric-localized juvenile polyposis syndrome with SMAD4 mosaic variant presenting as a slowly progressive phenotype.
- Hereditary Hemorrhagic Telangiectasia.
- Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening.
- Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.
- The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2929(Orphanet)
- OMIM OMIM:174900(OMIM)
- MONDO:0017380(MONDO)
- GARD:3065(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q609165(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
