{"orpha":2869,"name":"Peutz-Jeghers syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hamartomatous intestinal polyposis","PJS"],"definition":"A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2869/","orphanet_url":"https://www.orpha.net/en/disease/detail/2869","names":{"fr":{"name":"Syndrome de Peutz-Jeghers","synonyms":["PJS","Polypose hamartomateuse intestinale"],"definition":"Syndrome génétique de polypose intestinale caractérisé par le développement de polypes hamartomateux caractéristiques du tube digestif (GI), et par une pigmentation mucocutanée. Le syndrome de Peutz-Jeghers (SPJ) induit un risque très élevé de cancer, aussi bien digestif qu'extra-digestif."},"de":{"name":"Peutz-Jeghers-Syndrom","synonyms":["PJS","Polyposis, hamartöse intestinale"],"definition":"Ein genetisch bedingtes intestinales Polyposis-Syndrom, das durch die Entwicklung charakteristischer hamartomatöser Polypen im gesamten Magen-Darm-Trakt und durch mukokutane Pigmentierung gekennzeichnet ist. Diese Erkrankung birgt ein deutlich erhöhtes Risiko für gastrointestinale und extraintestinale Malignome."},"es":{"name":"Síndrome de Peutz-Jeghers","synonyms":["PJS","Poliposis intestinal hamartomatosa"],"definition":"Es un síndrome de poliposis intestinal de origen genético caracterizado por el desarrollo de pólipos hamar-tomatosos característicos en el tracto gastrointestinal (GI) y pigmentación mucocutánea. Este trastorno aumenta considerablemente el riesgo de neoplasias malignas tanto GI como extra-GI."},"it":{"name":"Sindrome di Peutz-Jeghers","synonyms":["PJS","Poliposi amartomatosa intestinale"],"definition":"La sindrome di Peutz-Jeghers (PJS) è una poliposi intestinale genetica, caratterizzata da polipi amartomatosi caratteristici a livello del tratto gastrointestinale (GI), e da pigmentazione muco-cutanea. La malattia si associa ad un significativo aumento del rischio di sviluppare tumori maligni gastrointestinali ed extra-gastrointestinali."},"nl":{"name":"Syndroom van Peutz-Jeghers","synonyms":["Hamartomateuze intestinale polyposis","PJS"],"definition":"Een genetisch intestinale polyposis-syndroom, gekarakteriseerd door ontwikkeling van kenmerkende hamartomateuze poliepen doorheen gastro-intestinaal (GI) stelsel, alsook mucocutane pigmentatie. Deze aandoening brengt een aanzienlijk verhoogd risico op maligniteiten van GI en buiten GI met zich mee."},"pt":{"name":"Síndrome Peutz-Jeghers","synonyms":["Polipose intestinal hamartomatosa","SPJ"]},"pl":{"name":"Zespół Peutza i Jeghersa","synonyms":["PJS","Polipowatość hamartomatyczna jelit","Zespół polipy i plamki"],"definition":"Genetycznie uwarunkowany zespół polipowatości jelit, w którym dochodzi do rozwoju charakterystycznych polipów hamartomatycznych w całym przewodzie pokarmowym oraz pigmentacji błon śluzowych. Wiąże się ze znacznie podwyższonym ryzykiem nowotworów przewodu pokarmowego oraz w innych lokalizacjach."},"cs":{"name":"Peutzův-Jeghersův syndrom","synonyms":["Hamartomatózní intestinální polypóza","PJS","Syndrom s polypy a skvrnami","Lentiginopolyposis digestiva","Peutz-Jeghersův syndrom"]},"uk":{"name":"Синдром Пейтца-Єгерса","synonyms":["Гамартомний поліпоз кишечника","PJS"],"definition":"A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies."},"zh":{"name":"Peutz-Jeghers综合征","synonyms":["错构瘤样肠息肉病"]},"tr":{"name":"Peutz-Jeghers sendromu","synonyms":["PJS","Polipler ve lekeler sendromu","Hamartomatöz bağırsak polipozu"]}},"xrefs":[{"source":"OMIM","code":"175200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2D.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"969253189"},{"source":"MONDO","code":"0008280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010580","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0031269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7378","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10034764","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":271835,"name":"Genetic digestive tract tumor","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":363314,"name":"Genetic intestinal polyposis","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":589746,"name":"Inherited gynecological cancer-predisposing syndrome","classifications":[156,202]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[{"symbol":"STK11","name":"serine/threonine kinase 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9837816[PMID]_20581245[PMID]_20301443[PMID]","hgnc":"11389","ensembl":"ENSG00000118046","omim":"602216","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Worldwide","status":"Not yet validated","source":"20301443[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Uruguay","status":"Validated","source":"24260271[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100669","label":"Abnormal pigmentation of the oral mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002672","label":"Gastrointestinal carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005264","label":"Abnormality of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100574","label":"Biliary tract neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030079","label":"Cervix cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100751","label":"Esophageal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100644","label":"Melanonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100273","label":"Neoplasm of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012720","label":"Neoplasm of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}