{"orpha":568062,"name":"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Generalized lymphatic dysplasia of Fotiou","PIEZO1-related LRHF/GLD","PIEZO1-related generalized lymphatic dysplasia with systemic involvement","PIEZO1-related lymphatic-related hydrops fetalis"],"definition":"A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-568062/","orphanet_url":"https://www.orpha.net/en/disease/detail/568062","names":{"fr":{"name":"Dysplasie lymphatique généralisée avec anasarque foetoplacentaire non immunologique associée à PIEZO1","synonyms":["Dysplasie lymphatique généralisée avec manifestations systémiques associée à PIEZO1","Dysplasie lymphatique généralisée de Fotiou"],"definition":"Lymphoedème primaire rare d'origine génétique caractérisé par un lymphoedème généralisé uniforme, souvent accompagné d'une atteinte systémique telle qu'une lymphangiectasie intestinale et pulmonaire, des épanchements péricardiques et pleuraux et un chylothorax. L'incidence de l'anasarque foetoplacentaire non immunologique étant élevée, la mort foetale peut être observée, mais une résolution complète de l'anasarque est également possible après la naissance. Des épisodes sévères et récurrents de cellulite faciale sont observés chez certains patients. Des cas d'épicanthus et de micrognathie ont été rapportés ; aucune déficience intellectuelle ni aucune crise convulsive n'ont, quant à elles, été observées."},"de":{"name":"PIEZO1-assoziierte generalisierte lymphatische Dysplasie mit nicht-immunem Hydrops fetalis","synonyms":["PIEZO1-assoziierte generalisierte lymphatische Dysplasie mit systemischer Beteiligung","Generalisierte lymphatische Dysplasie Fotiou","PIEZO1-assoziierte LRHF/GLD"],"definition":"Ein seltenes genetisch bedingtes primäres Lymphödem, das durch ein gleichmäßiges, weit verbreitetes Lymphödem gekennzeichnet ist, oft mit systemischer Beteiligung wie intestinaler und pulmonaler Lymphangiektasie, Pleura- und Perikardergüssen und Chylothorax. Es gibt eine hohe Inzidenz von nicht-immunem Hydrops fetalis, der zum intrauterinen Fruchttod führen oder sich nach der Geburt vollständig zurückbilden kann. Bei einigen Patienten wird eine schwere, wiederkehrende Zellulitis im Gesicht beobachtet. Gelegentlich wird über das Vorhandensein von Epikanthusfalten oder Mikrognathie berichtet, während die Intelligenz normal ist und keine Krampfanfälle auftreten."},"es":{"name":"Displasia linfática generalizada asociada al gen PIEZO1 con hidropesía fetal no inmunológico","synonyms":["Displasia linfática generalizada asociada al gen PIEZO1 con afectación sistémica","Displasia linfática generalizada asociada al gen PIEZO1 con hidropesía fetal no inmunológica","Displasia linfática generalizada de Fotiou","Hidrops fetal linfático asociado al gen PIEZO1"],"definition":"Es un linfedema primario de origen genético y poco frecuente caracterizado por linfedema generalizado uniforme, a menudo con afectación sistémica como linfangiectasia intestinal y pulmonar, derrames pleurales y pericárdicos y quilotórax. Existe una elevada incidencia de hidropesía fetal no inmune que puede conducir a muerte fetal o remitir completamente después del nacimiento. En algunos pacientes se observa celulitis facial recurrente y grave. Ocasionalmente, se ha descrito la presencia de pliegues epicánticos o micrognatia, aunque los pacientes presentan una inteligencia normal y no experimentan crisis epilépticas."},"it":{"name":"Displasia linfatica generalizzata correlata a PIEZO1 con idrope fetale non immune","synonyms":["Displasia linfatica generalizzata correlata a PIEZO1 con coinvolgimento sistemico","Displasia linfatica generalizzata di Fotiou","Idrope fetale linfatica correlata a PIEZO1","LRHF/GLD correlata a PIEZO1"],"definition":"Si tratta di un linfedema primitivo genetico raro, caratterizzato da un linfedema uniforme e diffuso, spesso con interessamento sistemico (linfangectasia intestinale e polmonare, versamenti pleurici e pericardici e chilotorace). L'incidenza dell'idrope fetale non immune è elevata, e può causare la morte del feto oppure risolversi completamente dopo la nascita. Alcuni pazienti presentano una cellulite facciale grave e ricorrente. Occasionalmente si osservano epicanto o micrognazia, mentre l'intelligenza è normale. I pazienti non presentano crisi epilettiche."},"nl":{"name":"PIEZO1-gerelateerde gegeneraliseerde lymfatische dysplasie met niet-immune hydrops foetalis","synonyms":["Gegeneraliseerde lymfatische dysplasie van Fotiou","PIEZO1-gerelateerde LRHF/GLD","PIEZO1-gerelateerde gegeneraliseerde lymfatische dysplasie met systemische betrokkenheid","PIEZO1-gerelateerde lymfe-gerelateerde hydrops foetalis"],"definition":"Een zeldzaam, genetisch primair lymfoedeem, gekarakteriseerd door uniform, wijdverspreid lymfoedeem, vaak met systemische betrokkenheid zoals intestinale en pulmonale lymfangiëctasie, pleurale en pericardiale effusies, en chylothorax. Er is een hoge incidentie van niet-immune hydrops foetalis, die kan resulteren in doodgeboorte of volledig kan verdwijnen na de geboorte. Bij sommige patiënten wordt ernstige, recidiverende faciale cellulitis waargenomen. Aanwezigheid van epicanthusplooien of micrognathie werd occasioneel gerapporteerd, terwijl intelligentie normaal is en insulten afwezig zijn."},"pt":{"name":"Hidropsia fetal não-imune com displasia linfática generalizada PIEZO1-relacionada"},"pl":{"name":"Uogólniona dysplazja limfatyczna z nieimmunologicznym obrzękiem płodu związana z PIEZO1","synonyms":["Uogólniona dysplazja limfatyczna z zajęciem wielu układów związana z PIEZO1"]},"cs":{"name":"PIEZO1-vázaná generalizovaná lymfatická dysplázie s neimunitním hydropsem plodu","synonyms":["Generalized lymphatic dysplasia of Fotiou","PIEZO1-related LRHF/GLD","PIEZO1-related generalized lymphatic dysplasia with systemic involvement","PIEZO1-related lymphatic-related hydrops fetalis"]},"uk":{"name":"PIEZO1-залежна генералізована лімфатична дисплазія з неімунною водянкою плода","synonyms":["Генералізована лімфатична дисплазія Фотиу","PIEZO1-залежна генералізована лімфатична дисплазія із системним ураженням","LRHF/GLD, повязані з PIEZO1","PIEZO1-повязаний лімфатичний гідропс плода"],"definition":"A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent."},"zh":{"name":"PIEZO1基因相关的全身淋巴发育不良伴非免疫性胎儿水肿","synonyms":["PIEZO1基因相关全身性淋巴发育不良伴全身受累"]},"tr":{"name":"Bağışık olmayan hidrops fetalis ile seyreden PIEZO1-ilişkili jeneralize lenfatik displazi","synonyms":["PIEZO1-ilişkili LRHF/GLD","Fotiou'nun jeneralize lenfatik displazisi","PIEZO1-ilişkili lenfatik-ilişkili hidrops fetalis","Sistemik tutulum ile seyreden PIEZO1 -lişkili jeneralize lenfatik displazi"]}},"xrefs":[{"source":"OMIM","code":"616843","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035474","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"35474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225184","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]}],"children":[],"genes":[{"symbol":"PIEZO1","name":"piezo type mechanosensitive ion channel component 1 (Er blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26333996[PMID]_33227434[PMID]","hgnc":"28993","ensembl":"ENSG00000103335","omim":"611184","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26333996[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26333996[PMID]"}],"phenotypes":null}