{"orpha":569816,"name":"CELSR1-related late-onset primary lymphedema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569816/","orphanet_url":"https://www.orpha.net/en/disease/detail/569816","names":{"fr":{"name":"Lymphoedème primaire tardif associé à CELSR1","definition":"Lymphoedème primaire rare d'origine génétique caractérisé par un lymphoedème unilatéral ou bilatéral, de sévérité variable, affectant les membres inférieurs. Chez les filles, la pénétrance est presque complète et la maladie se déclare pendant l'enfance ou l'adolescence ; chez les garçons, la pénétrance est incomplète et la maladie se déclare plus tardivement. Chez les patients atteints d'une forme sévère, la lymphoscintigraphie révèle des anomalies lymphatiques compatibles avec une lymphangiectasie, un dysfonctionnement valvulaire et un reflux à partir du canal thoracique."},"de":{"name":"CELSR1-assoziiertes spät-einsetzendes primäres Lymphödem","definition":"Ein seltenes, genetisch bedingtes primäres Lymphödem, das durch ein- oder beidseitige Lymphödeme der unteren Gliedmaßen mit unterschiedlichem Schweregrad gekennzeichnet ist. Die Erkrankung zeigt eine fast vollständige Penetranz mit Beginn im Kindes- oder Jugendalter bei Frauen, während sie bei Männern eine unvollständige Penetranz mit späterem Krankheitsbeginn aufweist. Die Lymphszintigraphie bei schwerer betroffenen Personen zeigt Lymphanomalien, die mit einer Lymphangiektasie, einer Funktionsstörung der Klappen und einem Reflux des Ductus thoracicus einhergehen."},"es":{"name":"Linfedema primario de inicio tardío asociado al gen CELSR1","definition":"Es un linfedema primario de origen genético poco frecuente caracterizado por linfedema de las extremidades inferiores, uni- o bilateral, de gravedad variable. El trastorno muestra una penetrancia casi completa con un inicio en la infancia o la adolescencia en las mujeres, mientras que en varones muestra una penetrancia incompleta con enfermedad de inicio tardío. La linfogammagrafía en los individuos más gravemente afectos revela anomalías linfáticas compatibles con linfangiectasia, disfunción valvular y reflujo del conducto torácico."},"it":{"name":"Linfedema primitivo ad esordio tardivo correlato a CELSR1","definition":"Si tratta di un linfedema primitivo genetico raro, caratterizzato da linfedema monolaterale o bilaterale degli arti inferiori di gravità variabile. La malattia ha una penetranza quasi completa ed esordisce nell'infanzia o nell'adolescenza nelle femmine, mentre nei maschi la penetranza è incompleta e l'esordio è più tardivo. Nelle forme più gravi, la linfoscintigrafia evidenzia anomalie linfatiche compatibili con la linfangectasia, disfunzione valvolare e reflusso del dotto toracico."},"nl":{"name":"CELSR1-gerelateerd primair lymfoedeem met late aanvang","definition":"Een zeldzaam, genetisch primair lymfoedeem, gekarakteriseerd door unilateraal of bilateraal lymfoedeem van onderste ledematen met variabele gradaties van ernst. De aandoening vertoont bij vrouwen nagenoeg volledige penetrantie met aanvang in de kindertijd of adolescentie, maar bij mannen onvolledige penetrantie en latere aanvang. Bij ernstiger getroffen individuen toont lymfoscintigrafie afwijkingen van lymfevaten die consistent zijn met lymfangiëctasie, disfunctie van kleppen, en reflux van ductus thoracicus."},"pt":{"name":"Linfedema primário de início tradio CELSR1-relacionado"},"pl":{"name":"Pierwotny obrzęk limfatyczny o późnym początku związany z CELSR1"},"cs":{"name":"CELSR1-vázaný primární lymfedém s pozdním nástupem"},"uk":{"name":"Пізня первинна лімфедема, повязана з CELSR1","definition":"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux."},"zh":{"name":"CELSR1基因相关的晚发型原发性淋巴水肿"},"tr":{"name":"CELSR1-ilişkili geç başlangıçlı primer lenfödem"}},"xrefs":[{"source":"OMIM","code":"619319","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035499","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681848","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":289825,"name":"Late-onset primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[{"symbol":"CELSR1","name":"cadherin EGF LAG seven-pass G-type receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26855770[PMID]_31215153[PMID]","hgnc":"1850","ensembl":"ENSG00000075275","omim":"604523","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31215153[PMID]_31403174[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"31215153[PMID]_31403174[PMID]"}],"phenotypes":null}