{"orpha":79087,"name":"Acquired partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Barraquer-Simons syndrome","Progressive cephalothoracic lipodystrophy"],"definition":"A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79087/","orphanet_url":"https://www.orpha.net/en/disease/detail/79087","names":{"fr":{"name":"Lipodystrophie partielle acquise","synonyms":["Lipodystrophie céphalothoracique progressive","Syndrome de Barraquer-Simons"],"definition":"Lipodystrophie acquise rare caractérisée par une lipoatrophie bilatérale et symétrique du haut du corps (visage, cou, bras, thorax et parfois le haut de l'abdomen) épargnant les membres inférieurs, et par une progression céphalothoracique. La maladie peut être associée à de faibles taux sériques de C3 et à la présence d'un facteur C3-néphritique."},"de":{"name":"Lipodystrophie, partielle erworbene","synonyms":["Barraquer-Simons-Syndrom","Lipodystrophie, cephalo-thorakale progressive"],"definition":"Eine seltene erworbene Lipodystrophie, die durch eine bilaterale, symmetrische Lipoatrophie des Oberkörpers (Gesicht, Hals, Arme, Thorax und manchmal Oberbauch) gekennzeichnet ist, wobei die unteren Extremitäten und der kephalothorakale Bereich verschont bleiben. Die Krankheit kann mit niedrigen C3-Serumspiegeln und dem Vorhandensein des C3-Nephritic-Faktors einhergehen."},"es":{"name":"Lipodistrofia parcial adquirida","synonyms":["Lipodistrofia cefalotorácica progresiva","Síndrome de Barraquer-Simons"],"definition":"Es una lipodistrofia adquirida poco frecuente caracterizada por lipoatrofia bilateral simétrica en la parte superior del cuerpo (cara, cuello, brazos, tórax y, en ocasiones, parte superior del abdomen) sin afectación de las extremidades inferiores y de progresión cefalotorácica. La enfermedad puede estar asociada a niveles séricos bajos de C3 y a la presencia del factor nefrítico C3."},"it":{"name":"Lipodistrofia parziale acquisita","synonyms":["Lipodistrofia cefalotoracica progressiva","Sindrome di Barraquer-Simons"],"definition":"Si tratta di una lipodistrofia acquisita rara, caratterizzata da lipoatrofia bilaterale simmetrica della parte superiore del corpo (viso, collo, braccia, torace e, talvolta, della porzione superiore dell'addome), con progressione cefalotoracica, senza interessamento degli arti inferiori. La malattia può associarsi a bassi livelli di C3 nel siero e alla presenza del fattore nefritico C3."},"nl":{"name":"Verworven partiële lipodystrofie","synonyms":["Progressieve cefalothoracale lipodystrofie","Syndroom van Barraquer-Simons"],"definition":"Een zeldzame, verworven lipodystrofie, gekarakteriseerd door bilaterale, symmetrische lipoatrofie van het bovenlichaam (aangezicht, nek, armen, thorax en soms bovenste deel van abdomen), terwijl de onderste ledematen gespaard blijven, en cefalothoracale progressie. De ziekte kan geassocieerd zijn met lage complementcomponent 3 (C3)-gehaltes in serum en aanwezigheid van C3-nefritische factor."},"pt":{"name":"Lipodistrofia parcial adquirida","synonyms":["Síndrome de Barraquer-Simons"]},"pl":{"name":"Nabyta częściowa lipodystrofia","synonyms":["Postępująca lipodystrofia głowy i klatki piersiowej","Zespół Barraquera i Simonsa"]},"cs":{"name":"Parciální získaná lipodystrofie","synonyms":["Progresivní cefalothorakální lipodystrofie","Barraquerův-Simonsův syndrom","Barraquer-Simonsův syndrom"]},"uk":{"name":"Набута часткова ліподистрофія","synonyms":["Синдром Барракера-Саймонса","Прогресуюча цефалоторакальна ліподистрофія"],"definition":"A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor."},"zh":{"name":"获得性部分脂质营养不良","synonyms":["进行性头胸脂肪营养不良"]},"tr":{"name":"Edinsel kısmi lipodistrofi","synonyms":["Barraquer-Simons sendromu","İlerleyici sefalotorasik lipodistrofi"]}},"xrefs":[{"source":"OMIM","code":"608709","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EF01.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2042663302"},{"source":"MONDO","code":"0012104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220989","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10509","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98307,"name":"Acquired lipodystrophy","classifications":[187,193]}],"children":[],"genes":[{"symbol":"LMNB2","name":"lamin B2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16826530[PMID]","hgnc":"6638","ensembl":"ENSG00000176619","omim":"150341","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24788242[PMID]_1246331[PMID]_18854390[PMID]_16826530[PMID]_22768673[PMID]","terms":[{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null}]}}