{"orpha":33001,"name":"Lymphedema-distichiasis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33001/","orphanet_url":"https://www.orpha.net/en/disease/detail/33001","names":{"fr":{"name":"Syndrome de lymphoedème-distichiasis","definition":"Syndrome rare de lymphoedème autosomique dominant caractérisé par un lymphoedème des membres inférieurs et une anomalie de degré variable de croissance des cils au niveau des glandes de Meibomius (distichiasis), et par d'autres anomalies associées de manière inconstante."},"de":{"name":"Lymphödem-Distichiasis-Syndrom","definition":"Eine seltene syndromale Lymphödemerkrankung, die durch ein Lymphödem der unteren Gliedmaßen und ein mehr oder weniger stark ausgeprägtes abnormales Wachstum der Wimpern aus den Öffnungen der Meibom-Drüsen (Distichiasis) gekennzeichnet ist, mit gelegentlich damit verbundenen Manifestationen."},"es":{"name":"Síndrome de linfedema-distiquiasis","definition":"Es un linfedema sindrómico autosómico dominante poco frecuente caracterizado por linfedema en las extremidades inferiores y grados variables de crecimiento anómalo de las pestañas desde los orificios de las glándulas de Meibomio (distiquiasis), con manifestaciones asociadas ocasionales."},"it":{"name":"Linfedema - distichiasi"},"nl":{"name":"Lymfoedeem - distichiasis-syndroom","definition":"Een zeldzaam autosomaal dominant syndromaal lymfoedeem, gekenmerkt door lymfoedeem van onderste ledematen en variabele gradaties van abnormale groei van wimpers uit de openingen van de klieren van Meibom (distichiasis), soms met geassocieerde manifestaties."},"pt":{"name":"Síndrome de linfedema-distiquíase","definition":"Linfedema sindrómico autossómico dominante raro, caracterizado por linfedema de membros inferiores e vários graus de crescimento anómalo de cílios a partir dos orifícios das glândulas Meibomius (distiquíase), com manifestações associadas ocasionais."},"pl":{"name":"Obrzęk limfatyczny - dwurzędowość rzęs"},"cs":{"name":"Lymfedéma-distichiasis syndrom"},"uk":{"name":"Лімфедематозно-дистихіальний синдром","definition":"A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations."},"zh":{"name":"淋巴水肿-双睫毛综合征"},"tr":{"name":"Lenfödem distikiyaz sendromu"}},"xrefs":[{"source":"OMIM","code":"153400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"992321940"},{"source":"MONDO","code":"0007922","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265345","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"333","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1683,"name":"Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome","status":"inactive"},{"type":"Moved to","orpha":2419,"name":"Lymphedema-ptosis syndrome","status":"inactive"}],"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]},{"orpha":98594,"name":"Rare eyebrow/eyelash disorder","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"FOXC2","name":"forkhead box C2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12383817[PMID]_20301630[PMID]","hgnc":"3801","ensembl":"ENSG00000176692","omim":"602402","loci":["16q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_24215208[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004930","label":"Abnormality of the pulmonary vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100244","label":"Fibrosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009745","label":"Spinalarachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}