{"orpha":329971,"name":"Generalized juvenile polyposis/juvenile polyposis coli","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Juvenile polyposis syndrome","url":"https://raremap.alftech.space/d/ORPHA-329971/","orphanet_url":"https://www.orpha.net/en/disease/detail/329971","names":{"fr":{"name":"Polypose juvénile généralisée/Polypose juvénile colorectale"},"de":{"name":"Generalisierte juvenile Polyposis/juvenile Polyposis coli"},"es":{"name":"Poliposis juvenil generalizada/poliposis juvenil coli"},"it":{"name":"Poliposi giovanile generalizzata/poliposi giovanile del colon"},"nl":{"name":"Gegeneraliseerde juveniele polyposis/juveniele polyposis coli"},"pt":{"name":"Polipose generalizada juvenil/polipose do colón juvenil"},"pl":{"name":"Uogólniona młodzieńcza polipowatość jelita cienkiego"},"cs":{"name":"Generalizovaná juvenilní polypóza/juvenilní polyposis coli"},"uk":{"name":"Генералізований ювенільний поліпоз / ювенільний поліпозний коліт"},"zh":{"name":"青少年息肉/遗传性出血性毛细血管扩张综合征"},"tr":{"name":"Jeneralize jüvenil polipoz/jüvenil polipoz koli"}},"xrefs":[{"source":"OMIM","code":"174900","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"175050","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":2929,"name":"Juvenile polyposis syndrome","classifications":[152,156,202,233]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-08","source":"27072264[PMID]_20301642[PMID]_29169633[PMID]_26672891[PMID]_20301642[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001017","label":"Anemic pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100896","label":"Rectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004394","label":"Multiple gastric polyps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004783","label":"Duodenal polyposis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030256","label":"Small intestinal polyposis","frequency":"Very rare (<4-1%)","criteria":null}]}}