{"orpha":1059,"name":"Blue rubber bleb nevus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BRBN","Bean syndrome"],"definition":"A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1059/","orphanet_url":"https://www.orpha.net/en/disease/detail/1059","names":{"fr":{"name":"Angiomatose cutanée et digestive","definition":"Malformation vasculaire rare se caractérisant par des lésions cutanées et viscérales souvent associées à des saignements et à une anémie graves, engageant généralement le pronostic vital."},"de":{"name":"Blue-Rubber-Bleb-Naevus-Syndrom","synonyms":["BRBN","Bean-Syndrom","Blaues Gummibläschen-Naevus-Syndrom"],"definition":"Eine seltene Fehlbildung der Gefäße mit vor allem kutanen und viszeralen Läsionen, die häufig zu schweren und potentiell tödlichen Blutungen und Anämie führen."},"es":{"name":"Síndrome de nevo azul en tetina de goma","synonyms":["BRBN","Síndrome de Bean"],"definition":"Es una malformación vascular poco frecuente con lesiones cutáneas y viscerales asociadas con frecuencia a hemorragias y anemia graves y potencialmente mortales."},"it":{"name":"Sindrome del nevo blu","synonyms":["Sindrome di Bean","BRBN"],"definition":"La sindrome del nevo blu (BRBNS) è una rara malformazione vascolare caratterizzata da lesioni cutanee e viscerali, spesso associate a gravi emorragie potenzialmente letali e ad anemia."},"nl":{"name":"'Blue rubber bleb nevus'-syndroom","synonyms":["Syndroom van 'blue rubber bleb'-naevus","BRBN","Syndroom van Bean","BRBNS"],"definition":"Een zeldzame, vasculaire malformatie met cutane en viscerale laesies, vaak geassocieerd met ernstige, potentieel fatale bloeding en anemie."},"pt":{"name":"Nevo bolhoso esponjoso azul","synonyms":["Síndrome Bean"]},"pl":{"name":"Zespół gumiastych pęcherzyków znamionowych","synonyms":["BRBN","Zespół Bean"]},"cs":{"name":"Blue rubber bleb naevus","synonyms":["Beanův syndrom"]},"uk":{"name":"Блакитний гумово-пухирчастий невус","synonyms":["Синдром Бинса","BRBN"],"definition":"A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia."},"zh":{"name":"蓝色橡皮疱样痣","synonyms":["Bean综合征"]},"tr":{"name":"Mavi kauçuk kabarcık nevüs","synonyms":["BRBN","Bean sendromu"]}},"xrefs":[{"source":"OMIM","code":"112200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q27.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1112312815"},{"source":"MONDO","code":"0007203","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346072","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":715339,"name":"Multifocal peripheral venous malformation","classifications":[147,198]},{"orpha":459548,"name":"Rare genetic venous malformation","classifications":[156]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[{"symbol":"TEK","name":"TEK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27519652[PMID]","hgnc":"11724","ensembl":"ENSG00000120156","omim":"600221","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Worldwide","status":"Validated","source":"30576827[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002584","label":"Intestinal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null}]}}