{"orpha":2929,"name":"Juvenile polyposis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JIP","JPS","Juvenile gastrointestinal polyposis","Juvenile intestinal polyposis"],"definition":"A rare inherited cancer-predisposing syndrome characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2929/","orphanet_url":"https://www.orpha.net/en/disease/detail/2929","names":{"fr":{"name":"Syndrome de polypose juvénile","synonyms":["JIP","JPS","PIJ","Polypose gastro-intestinale juvénile","Polypose intestinale juvénile"],"definition":"Syndrome héréditaire rare de prédisposition aux cancers caractérisé par la présence de polypes hamartomateux juvéniles dans le tractus gastro-intestinal."},"de":{"name":"Juveniles Polyposis-Syndrom","synonyms":["JPS","Juvenile gastrointestinale Polyposis","Juvenile intestinale Polypose"],"definition":"Ein seltenes hereditäres Krebsprädisposition-Syndrom, das durch das Vorhandensein juveniler hamartomatöser Polypen im Magen-Darm-Trakt gekennzeichnet ist."},"es":{"name":"Síndrome de poliposis juvenil","synonyms":["JIP","JIPS","Síndrome de poliposis gastrointestinal juvenil"],"definition":"Es un síndrome hereditario poco frecuente de predisposición al cáncer caracterizado por la presencia de pólipos hamartomatosos juveniles en el tracto gastrointestinal (GI)."},"it":{"name":"Poliposi gastrointestinale giovanile","synonyms":["JPS","Poliposi intestinale giovanile","Sindrome della poliposi giovanile"]},"nl":{"name":"Juveniele polyposis-syndroom","synonyms":["JIP","JPS","Juveniele gastro-intestinale polyposis","Juveniele intestinale polyposis"],"definition":"Een zeldzaam erfelijk kankerpredispositiesyndroom, gekenmerkt door de aanwezigheid van juveniele hamartomateuze poliepen in het gastro-intestinale (GI) stelsel."},"pt":{"name":"Síndrome de polipose juvenil","synonyms":["JIP","JPS","Polipose gastro-intestinal juvenil","Polipose intestinal juvenil"],"definition":"A polipose juvenil do tracto gastrointestinal (JIP) é uma doença rara caracterizada pela presença de pólipos hamartomatosos juvenis no tracto gastrointestinal (GI)."},"pl":{"name":"Polipowatość młodzieńcza","synonyms":["JIP","JPS","Młodzieńcza polipowatość jelit","Młodzieńcza polipowatość żołądkowo-jelitowa"]},"cs":{"name":"Juvenilní polypóza","synonyms":["JIP","JPS","Syndrom juvenilní polypózy","Juvenilní intestinální polypóza"]},"uk":{"name":"Синдром ювенільного поліпозу","synonyms":["JIP","JPS","Ювенільний поліпоз шлунково-кишкового тракту","Ювенільний поліпоз кишечника"],"definition":"A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract."},"zh":{"name":"幼年性息肉病综合征","synonyms":["幼年性胃肠道息肉病"]},"tr":{"name":"Jüvenil polipozis sendromu","synonyms":["JIP","JPS","jüvenil intestinal polipoz","jüvenil gastrointestinal polipoz"]}},"xrefs":[{"source":"OMIM","code":"174900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"175050","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612242","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1020795563"},{"source":"MONDO","code":"0017380","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345893","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3065","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089326","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363314,"name":"Genetic intestinal polyposis","classifications":[156]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]}],"children":[{"orpha":329971,"name":"Generalized juvenile polyposis/juvenile polyposis coli","type":"Clinical subtype"},{"orpha":79076,"name":"Juvenile polyposis of infancy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ENG","name":"endoglin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17204053[PMID]_18178612[PMID]","hgnc":"3349","ensembl":"ENSG00000106991","omim":"131195","loci":["9q34.11"],"via":{"orpha":329971,"name":"Generalized juvenile polyposis/juvenile polyposis coli"}},{"symbol":"BMPR1A","name":"bone morphogenetic protein receptor type 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18823382[PMID]","hgnc":"1076","ensembl":"ENSG00000107779","omim":"601299","loci":["10q23.2"],"via":{"orpha":329971,"name":"Generalized juvenile polyposis/juvenile polyposis coli"}},{"symbol":"SMAD4","name":"SMAD family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18823382[PMID]","hgnc":"6770","ensembl":"ENSG00000141646","omim":"600993","loci":["18q21.2"],"via":{"orpha":329971,"name":"Generalized juvenile polyposis/juvenile polyposis coli"}},{"symbol":"BMPR1A","name":"bone morphogenetic protein receptor type 1A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16685657[PMID]_22993021[PMID]_23331837[PMID]","hgnc":"1076","ensembl":"ENSG00000107779","omim":"601299","loci":["10q23.2"],"via":{"orpha":79076,"name":"Juvenile polyposis of infancy"}},{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16685657[PMID]_22993021[PMID]_23331837[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"],"via":{"orpha":79076,"name":"Juvenile polyposis of infancy"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.85,"area":"Europe","status":"Validated","source":"20301642[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-07","source":"20301642[PMID]_29169633[PMID]_25022750[PMID]","terms":[{"hpo":"HP:0012198","label":"Juvenile colonic polyposis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004784","label":"Juvenile gastrointestinal polyposis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100896","label":"Rectal polyposis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005266","label":"Intestinal polyp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030256","label":"Small intestinal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004795","label":"Hamartomatous stomach polyps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002576","label":"Intussusception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100822","label":"Rectocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004406","label":"Spontaneous, recurrent epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040231","label":"Abnormal onset of bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012050","label":"Anasarca","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002408","label":"Cerebral arteriovenous malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004941","label":"Extrahepatic portal hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010797","label":"Hemangioblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006574","label":"Hepatic arteriovenous malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100579","label":"Mucosal telangiectasiae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006548","label":"Pulmonary arteriovenous malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very rare (<4-1%)","criteria":null}]}}