{"orpha":568065,"name":"EPHB4-related lymphatic-related hydrops fetalis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EPHB4-related LRHF/GLD","EPHB4-related generalized lymphatic dysplasia with atrial septal defect","EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"],"definition":"A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-568065/","orphanet_url":"https://www.orpha.net/en/disease/detail/568065","names":{"fr":{"name":"Dysplasie lymphatique généralisée avec anasarque foetoplacentaire non immunologique associée à EPHB4","synonyms":["Dysplasie lymphatique généralisée avec communication interauriculaire associée à EPHB4"],"definition":"Lymphoedème primaire rare caractérisé par un phénotype lymphatique très variable, allant d'une dysplasie lymphatique généralisée avec anasarque foetoplacentaire non immunologique (pouvant entraîner la mort foetale ou évoluer vers une résolution complète avec disparition des symptômes) à une présentation légère chez les patients plus âgés à type de varices, d'oedèmes périphériques et de troubles du drainage lymphatique au niveau des membres inférieurs. Une communication interauriculaire a été décrite en association avec la maladie et peut être la seule anomalie observée chez certains patients."},"de":{"name":"EPHB4-assoziierter lymphatisch bedingter Hydrops fetalis","synonyms":["EPHB4-assoziierte LRHF/GLD","EPHB4-assoziierte generalisierte lymphatische Dysplasie mit Vorhofseptumdefekt","EPHB4-assoziierte generalisierte lymphatische Dysplasie mit nicht-immunologischen Hydrops fetalis"],"definition":"Ein seltenes primäres Lymphödem, das durch einen sehr variablen lymphatischen Phänotyp charakterisiert ist, der von einem schweren lymphatischen Hydrops fetalis, der zum perinatalen Tod führen kann, über ein mildes Erscheinungsbild bei älteren Patienten mit persistierenden Krampfadern, peripheren Ödemen und gestörtem Lymphabfluss in den unteren Extremitäten reichen kann. Ein Vorhofseptumdefekt wurde im Zusammenhang mit dieser Erkrankung beschrieben und kann bei einigen Patienten die einzige Anomalie sein."},"es":{"name":"Hidropesía fetal linfática asociada al gen EPHB4","synonyms":["Displasia linfática generalizada asociada al gen EPHB4 con comunicación interauricular","Displasia linfática generalizada asociada al gen EPHB4 con hidropesía fetal no inmunológica"],"definition":"Es un linfedema primario poco frecuente caracterizado por un fenotipo linfático altamente variable que va desde grave hidropesía fetal linfática, que puede ocasionar el fallecimiento perinatal o remitir completamente y tornarse asintomático, hasta una presentación leve en pacientes de edad más avanzada con venas varicosas persistentes, edema periférico y alteración del drenaje linfático en las extremidades inferiores. También se ha descrito comunicación interauricular asociada al trastorno, pudiendo ser la única anomalía presente en algunos pacientes."},"it":{"name":"Idrope fetale linfatica correlata a EPHB4","synonyms":["Displasia linfatica generalizzata correlata a EPHB4 con idrope fetale non immune","LRHF/GLD correlata a EPHB4","Displasia linfatica generalizzata correlata a EPHB4 con difetto del setto interatriale"],"definition":"Si tratta di un linfedema primitivo raro, caratterizzato da un fenotipo linfatico molto variabile che comprende l'idrope fetale linfatica grave, che può causare la morte perinatale o risolversi completamente diventando del tutto asintomatica, fino ad un quadro clinico lieve nei pazienti più anziani che presentano vene varicose persistenti, edema periferico e compromissione del drenaggio linfatico negli arti inferiori. Alcuni pazienti presentano solo un difetto del setto interatriale."},"nl":{"name":"EPHB4-gerelateerde lymfe-gerelateerde hydrops foetalis","synonyms":["EPHB4-gerelateerde LRHF/GLD","EPHB4-gerelateerde gegeneraliseerde lymfatische dysplasie met atriumseptumdefect","EPHB4-gerelateerde gegeneraliseerde lymfatische dysplasie met niet-immune hydrops foetalis"],"definition":"Een zeldzaam primair lymfoedeem, gekarakteriseerd door een zeer variabel lymfatisch fenotype, gaande van ernstige lymfe-gerelateerde hydrops foetalis, die perinataal overlijden kan veroorzaken of die kan verdwijnen en volledig asymptomatisch worden, tot een milde presentatie bij oudere patiënten met persisterende spataders, perifeer oedeem, en verstoorde drainage van lymfe in onderste ledematen. Associatie van atriumseptumdefect werd reeds beschreven, en bij sommige patiënten kan dit de enige anomalie zijn."},"pt":{"name":"Hidropsia fetal linfático-relacionada EPHB4-relacionada"},"pl":{"name":"Obrzęk płodu mający związek z układem limfatycznym związany z EPHB4","synonyms":["Uogólniona dysplazja limfatyczna z ubytkiem w przegrodzie międzyprzedsionkowej związana z EPHB4","Uogólniona dysplazja limfatyczna z nie-immunologicznym obrzękiem płodu związana z EPHB4"]},"cs":{"name":"EPHB4-vázaný lymfatický hydrops plodu","synonyms":["EPHB4-related LRHF/GLD","EPHB4-related generalized lymphatic dysplasia with atrial septal defect","EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"]},"uk":{"name":"EPHB4-повязані лімфатична водянка плоду","synonyms":["EPHB4-залежна генералізована лімфатична дисплазія з дефектом міжпередсердної перегородки","EPHB4-асоційована генералізована лімфатична дисплазія з неімунним ембріональним гідропсом","LRHF/GLD, повязані з EPHB4"],"definition":"A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients."},"zh":{"name":"EPHB4基因相关的淋巴性胎儿水肿","synonyms":["EPHB4基因相关全身性淋巴发育不良伴非免疫性胎儿水肿"]},"tr":{"name":"EPHB4-ilişkili lenfatik -ilişkili hidrops fetalis","synonyms":["EPHB4-ilişkili LRHF/GLD","Atriyal septal defekt ile seyreden EPHB4-ilişkili jeneralize lenfatik displazi","İmmün olmayan hidrops fetalis ile seyreden EPHB4-ilişkili jeneralize lenfatik displazi"]}},"xrefs":[{"source":"OMIM","code":"617300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P83.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680140","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":98727,"name":"Rare atrial defect and interatrial communication","classifications":[147,148]}],"children":[],"genes":[{"symbol":"EPHB4","name":"EPH receptor B4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27400125[PMID]","hgnc":"3395","ensembl":"ENSG00000196411","omim":"600011","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27400125[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27400125[PMID]"}],"phenotypes":null}