{"orpha":79452,"name":"Milroy disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary lymphedema type I","Nonne-Milroy lymphedema"],"definition":"Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79452/","orphanet_url":"https://www.orpha.net/en/disease/detail/79452","names":{"fr":{"name":"Maladie de Milroy","synonyms":["Lymphoedème de Nonne-Milroy","Lymphoedème héréditaire type I"],"definition":"Forme fréquente de lymphoedème primaire, généralement caractérisée par un lymphoedème chronique indolore des membres inférieurs apparaissant à la naissance ou se développant au début de la période néonatale."},"de":{"name":"Milroy-Krankheit","synonyms":["Lymphödem, hereditäres, Typ I","Lymphödem, kongenitales primäres","Nonne-Milroy-Lymphödem"]},"es":{"name":"Enfermedad de Milroy","synonyms":["Linfedema de Nonne-Milroy","Linfedema hereditario tipo I"],"definition":"Es una forma frecuente de linfedema primario caracterizado por linfedema crónico e indoloro en las extremidades inferiores presente al nacimiento o que se desarrolla en el período neonatal temprano."},"it":{"name":"Malattia di Milroy","synonyms":["Linfedema di Nonne-Milroy","Linfedema ereditario, tipo I","Linfedema primitivo congenito"]},"nl":{"name":"Ziekte van Milroy","synonyms":["Erfelijk lymfoedeem type I","Lymfoedeem van Nonne-Milroy"],"definition":"De ziekte van Milroy is een frequente vorm van primair lymfoedeem (zie deze term) en wordt in het algemeen gekenmerkt door een pijnloos, chronisch lymfoedeem van de onderste ledematen bij de geboorte of tijdens de ontwikkeling in de vroege neonatale periode."},"pt":{"name":"Doença Milroy","synonyms":["Linfedema Nonne-Milroy","Linfedema hereditário tipo I"]},"pl":{"name":"Choroba Milroy'a","synonyms":["Dziedziczny obrzęk limfatyczny typu I","Obrzęk limfatyczny Nonne'a i Milroy'a","Wrodzony pierwotny obrzęk limfatyczny"]},"cs":{"name":"Milroyova nemoc","synonyms":["Vrozený primární lymfedém","Hereditární lymfedém, typ I","Nonneho-Milroyův lymfedém","Nonne-Milroyův lymfedém"]},"uk":{"name":"Хвороба Мілроя","synonyms":["Спадкова лімфедема типу I","Лімфедема Нонне-Мільроя"],"definition":"Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period."},"zh":{"name":"米尔罗伊病","synonyms":["遗传性淋巴水肿Ⅰ型"]},"tr":{"name":"Milroy hastalığı","synonyms":["Nonne-Milroy lenfödem","Kalıtsal lenfödem tip I"]}},"xrefs":[{"source":"OMIM","code":"153100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611944","qualifier":"BTNT","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":"1134415234"},{"source":"UMLS","code":"C1704423","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7220","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79450,"name":"Non-hereditary congenital primary lymphedema","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2416,"name":"Congenital primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[{"symbol":"FLT4","name":"fms related receptor tyrosine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301417[PMID]","hgnc":"3767","ensembl":"ENSG00000037280","omim":"136352","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Israel","status":"Validated","source":"12224079[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-04","source":"17458866[PMID]_23074044[PMID]_27730656[PMID]_28748022[PMID]_30941160[PMID]","terms":[{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002624","label":"Abnormal venous morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","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:0100797","label":"Toenail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200058","label":"Angiosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001055","label":"Erysipelas","frequency":"Very rare (<4-1%)","criteria":null}]}}