{"orpha":90362,"name":"Primary intestinal lymphangiectasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Waldmann disease"],"definition":"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90362/","orphanet_url":"https://www.orpha.net/en/disease/detail/90362","names":{"fr":{"name":"Lymphangiectasie intestinale primitive","synonyms":["Maladie de Waldmann"],"definition":"Maladie intestinale rare caractérisée par une dilatation des vaisseaux chylifères intestinaux à l'origine d'une fuite de lymphe dans la lumière de l'intestin grêle. Les manifestations cliniques sont un oedème lié à une hypoalbuminémie (entérophathie avec perte de protéines), une asthénie, une diarrhée modérée, un lymphoedème, un épanchement séreux et un retard de croissance staturo-pondérale chez l'enfant."},"de":{"name":"Lymphangiektasie, intestinale primäre","synonyms":["Waldmann-Krankheit"],"definition":"Eine seltene Darmerkrankung, die durch abnorm erweiterte Lymphgefäße des Dünndarms gekennzeichnet ist, die einen Lymphabfluss in das Dünndarmlumen verursachen. Zu den klinischen Manifestationen gehören Ödeme in Verbindung mit Hypoalbuminämie (proteinlose Gastroenteropathie), Asthenie, mäßige Diarrhöe, Lymphödeme, seröser Erguss und Gedeihstörung bei Kindern."},"es":{"name":"Linfangiectasia intestinal primaria","synonyms":["Enfermedad de Waldmann"],"definition":"Es una enfermedad intestinal poco frecuente caracterizada por vasos linfáticos intestinales dilatados que causan una pérdida de linfa hacia la luz del intestino delgado. Las manifestaciones clínicas incluyen edema relacionado con hipoalbuminemia (enteropatía pierde-proteínas), astenia, diarrea moderada, linfedema, derrame seroso y fallo de medro en niños."},"it":{"name":"Linfangectasia intestinale primitiva","synonyms":["Malattia di Waldmann"],"definition":"Si tratta di una malattia intestinale rara, caratterizzata dalla dilatazione dei vasi chiliferi intestinali, che causa la fuoriuscita della linfa nel lume dell'intestino tenue. I segni clinici comprendono l'edema secondario all'ipoalbuminemia (gastro-enteropatia con perdita di proteine), l'astenia, la diarrea moderata, il linfedema, il versamento sieroso e, nei bambini, il ritardo della crescita."},"nl":{"name":"Primaire intestinale lymfangiëctasie","synonyms":["Ziekte van Waldmann"],"definition":"Een zeldzame darmziekte gekarakteriseerd door verwijde intestinale chylvaten (of lactealen) die lekkage van lymfevocht in het lumen van de dunne darm veroorzaken. Klinische manifestaties zijn onder meer oedeem gerelateerd aan hypoalbuminemie (proteïneverliezende gastro-enteropathie), asthenie, matige diarree, lymfoedeem, sereuze effusie en groeiachterstand bij kinderen."},"pt":{"name":"Linfangiectasia intestinal primária"},"pl":{"name":"Pierwotna limfangiektazja jelitowa","synonyms":["Choroba Waldmanna"]},"cs":{"name":"Primární střevní lymfangiektázie","synonyms":["Waldmannova nemoc"]},"uk":{"name":"Первинна кишкова лімфангіектазія","synonyms":["Хвороба Вальдмана"],"definition":"A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children."},"zh":{"name":"原发性小肠淋巴管扩张","synonyms":["Waldmann病"]},"tr":{"name":"Primer bağırsak lenfanjiyektazi","synonyms":["Waldmann hastalığı"]}},"xrefs":[{"source":"OMIM","code":"152800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I89.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB15.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"52162548"},{"source":"MONDO","code":"0007916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931241","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":36204,"name":"Intestinal lymphangiectasia","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"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":"2021-11-15","source":"30762910[PMID]_30381277[PMID]_32463559[PMID]_33505146[PMID]","terms":[{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005387","label":"Combined immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002593","label":"Intestinal lymphangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011472","label":"Abnormality of small intestinal villus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100508","label":"Abnormality of vitamin metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031686","label":"Increased stool alpha1-antitrypsin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031690","label":"Opportunistic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025624","label":"Reduced proportion of CD4+ effector memory T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001281","label":"Tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032160","label":"Cryptococcal meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032215","label":"Disseminated cutaneous warts","frequency":"Very rare (<4-1%)","criteria":null}]}}