{"orpha":90186,"name":"Meige disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary lymphedema type II","Meige lymphedema"],"definition":"Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90186/","orphanet_url":"https://www.orpha.net/en/disease/detail/90186","names":{"fr":{"name":"Maladie de Meige","synonyms":["Lymphoedème héréditaire type II"],"definition":"Forme fréquente de lymphoedème primaire tardif caractérisée par un lymphoedème des membres inférieurs se développant typiquement pendant la puberté."},"de":{"name":"Meige-Krankheit","synonyms":["Lymphödem, hereditäres, Typ II","Meige-Lymphödem"]},"es":{"name":"Enfermedad de Meige","synonyms":["Linfedema de Meige","Linfedema hereditario tipo II"],"definition":"Es una forma frecuente de linfedema primario de inicio tardío caracterizada por linfedema en las extremidades inferiores que se desarrolla típicamente en la pubertad."},"it":{"name":"Malattia di Meige","synonyms":["Linedema primitivo a esordio tardivo","Linfedema di Meige","Linfedema ereditario, tipo II"],"definition":"La malattia di Meige è una forma frequente di linfedema primitivo ad esordio tardivo, caratterizzata da linfedema degli arti inferiori che di solito si manifesta durante la pubertà."},"nl":{"name":"Ziekte van Meige","synonyms":["Erfelijk lymfoedeem type II","Lymfoedeem van Meige"],"definition":"Ziekte van Meige is een frequente vorm van primair lymfoedeem met late aanvang, en wordt gekarakteriseerd door lymfoedeem in de onderste ledematen dat doorgaans ontwikkelt tijdens de puberteit."},"pt":{"name":"Doença de Meige"},"pl":{"name":"Choroba Meige'a","synonyms":["Dziedziczny obrzęk limfatyczny typu II","Obrzęk limfatyczny Meige'a","Pierwotny obrzęk limfatyczny późny"]},"cs":{"name":"Meigeho choroba","synonyms":["Hereditární lymfedém, typ II","Primární lymfedém s pozdním nástupem","Meigeho lymfedém"]},"uk":{"name":"Хвороба Мейге","synonyms":["Спадкова лімфедема II типу","Лімфедема Мейге"],"definition":"Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty."},"zh":{"name":"Meige病","synonyms":["遗传性淋巴水肿II型"]},"tr":{"name":"Meige hastalığı","synonyms":["Meige lenfödem","Kalıtsal lenfödem tip II"]}},"xrefs":[{"source":"OMIM","code":"153200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"593896812"},{"source":"MONDO","code":"0007920","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1704424","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":77241,"name":"OBSOLETE: Lymphedema praecox","status":"inactive"},{"type":"Referred to","orpha":77242,"name":"OBSOLETE: Lymphedema tarda","status":"inactive"},{"type":"Moved to","orpha":90185,"name":"Non-hereditary late-onset primary lymphedema","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]}],"children":[],"genes":[{"symbol":"EPHB4","name":"EPH receptor B4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34231312[PMID]","hgnc":"3395","ensembl":"ENSG00000196411","omim":"600011","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-05","source":"29132848[PMID]_18197197[PMID]_6679236[PMID]_7747790[PMID]","terms":[{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002849","label":"Absence of lymph node germinal center","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031288","label":"Cobblestone-like hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002732","label":"Lymph node hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200058","label":"Angiosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012027","label":"Laryngeal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null}]}}