{"orpha":2398,"name":"Multiple symmetric lipomatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cephalothoracic lipodystrophy","Familial benign cervical lipomatosis","Launois-Bensaude lipomatosis","Madelung disease"],"definition":"A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2398/","orphanet_url":"https://www.orpha.net/en/disease/detail/2398","names":{"fr":{"name":"Adénolipomatose symétrique à prédominance cervicale","synonyms":["Lipomatose cervicale bénigne familiale","Lipomatose de Launois-Bensaude","Lipomatose symetrique familiale","Maladie de Madelung"],"definition":"Maladie rare du tissu sous-cutané caractérisée par la croissance de masses non encapsulées de tissu adipeux distribuées de façon symétrique, principalement autour du visage et du cou, entraînant des effets variables sur le plan clinique (mobilité réduite du cou, compression des structures respiratoires)."},"de":{"name":"Lipomatose, multiple symmetrische","synonyms":["Launois-Bensaude-Syndrom","Lipomatose Typ Launois-Bensaude","Lipomatose, benigne familiäre zervikale","Lipomatose, benigne symmetrische","Madelung-Krankheit"],"definition":"Eine seltene Erkrankung des Unterhautgewebes, die durch das Wachstum symmetrischer, nicht eingekapselter Gewebeverdichtungen vor allem im Gesichts- und Halsbereich gekennzeichnet ist und unterschiedliche klinische Auswirkungen hat (z. B. eingeschränkte Halsbeweglichkeit, Kompression der Atemwege)."},"es":{"name":"Lipomatosis simétrica múltiple","synonyms":["Enfermedad de Madelung","Lipodistrofia cefalotorácica","Lipomatosis cervical familiar benigna","Lipomatosis de Launois-Bensaude"],"definition":"Es una enfermedad del tejido subcutáneo poco frecuente caracterizada por el crecimiento de masas simétricas no encapsuladas de tejido adiposo, principalmente alrededor de la cara y el cuello, con repercusiones clínicas variables (p. ej. reducción de la movilidad del cuello, compresión de las estructuras respiratorias)."},"it":{"name":"Lipomatosi simmetrica multipla","synonyms":["Lipodistrofia cefalotoracica","Lipomatosi cervicale familiare benigna","Lipomatosi di Launois-Bensaude","Malattia di Madelung"],"definition":"La lipomatosi simmetrica multipla (MSL) è una malattia rara del tessuto sottocutaneo, caratterizzata dalla crescita di masse simmetriche non incapsulate di tessuto adiposo, localizzate soprattutto sul viso e sul collo, con conseguenze cliniche variabili (ad es. riduzione della mobilità del collo e compressione delle vie aeree)."},"nl":{"name":"Multipele symmetrische lipomatose","synonyms":["Cefalothoracale lipodystrofie","Familiale goedaardige cervicale lipomatose","Lipomatose van Launois-Bensaude","Meervoudige symmetrische lipomatose","Ziekte van Madelung"],"definition":"Een zeldzame aandoening van subcutis, gekarakteriseerd door groei van symmetrische, niet-ingekapselde massa's van vetweefsel, meestal rond aangezicht en nek, met variabele klinische gevolgen (e.g. verminderde mobiliteit van de nek, compressie van respiratoire structuren)."},"pt":{"name":"Lipomatose simétrica múltipla","synonyms":["Adenolipomatose de Launois-Bensaude","Doença de Madelung","Lipomatose central não-encapsulada","Lipomatose cervical benigna familiar","Lipomatose simétrica familiar"]},"pl":{"name":"Mnoga tłuszczakowatość symetryczna","synonyms":["Choroba Madelunga","Lipodystrofia głowowo-piersiowa","Lipomatoza Launoisa i Bensaude'a","Rodzinna łagodna lipomatoza szyjna"]},"cs":{"name":"Mnohočetná symetrická lipomatóza","synonyms":["Cefalotorakální lipodystrofie","Benigní symetrická lipomatóza","Madelungova choroba","Launoisův-Bensaudeův syndrom","Launois-Bensaudeův syndrom"]},"uk":{"name":"Множинний симетричний ліпоматоз","synonyms":["Цефалоторакальна ліподистрофія","Сімейний доброякісний ліпоматоз шийки матки","Ліпоматоз Лануа-Бенсо","Хвороба Маделунга"],"definition":"A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)."},"zh":{"name":"多发对称性脂肪瘤病","synonyms":["家族性良性颈部脂肪瘤病"]},"tr":{"name":"Çoklu simetrik lipomatoz","synonyms":["Madelung hastalığı","Launois-Bensaude lipomatozu","Sefalotorasik lipodistrofi","Ailesel selim servikal lipomatoz"]}},"xrefs":[{"source":"OMIM","code":"151800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EF02.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"201235221"},{"source":"MONDO","code":"0007908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6957","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]}],"children":[],"genes":[{"symbol":"MFN2","name":"mitofusin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26085578[PMID]","hgnc":"16877","ensembl":"ENSG00000116688","omim":"608507","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Italy","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009124","label":"Abnormal adipose tissue morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null}]}}