{"orpha":98306,"name":"Familial partial lipodystrophy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["FPLD"],"definition":"A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98306/","orphanet_url":"https://www.orpha.net/en/disease/detail/98306","names":{"fr":{"name":"Lipodystrophie partielle familiale","synonyms":["FPLD","LDPF"],"definition":"Groupe de lipodystrophies génétiques rares caractérisées, dans la plupart des cas, par une perte de tissu adipeux sous-cutané affectant les fesses et les membres, survenant dans l'enfance ou au début de l'âge adulte, souvent en association avec l'acanthosis nigricans, la résistance à l'insuline, le diabète, l'hypertriglycéridémie et la stéatose hépatique."},"de":{"name":"Lipodystrophie, partielle, familiäre Form","synonyms":["FPLD"],"definition":"Eine Gruppe seltener genetisch bedingter Lipodystrophien, die meist durch Fettabbau an den Gliedmaßen und am Gesäß gekennzeichnet sind und sich in der Kindheit oder im frühen Erwachsenenalter manifestieren. Sie geht häufig mit Acanthosis nigricans, Insulinresistenz, Diabetes, Hypertriglyceridämie und Lebersteatose einher."},"es":{"name":"Lipodistrofia parcial familiar","synonyms":["FPLD"],"definition":"Es un grupo de lipodistrofias de origen genético y poco frecuente, caracterizado en la mayoría de los casos por una pérdida de grasa en las extremidades y los glúteos de inicio en la infancia o la edad adulta temprana, y asociando, a menudo, acantosis nigricans, resistencia a la insulina, diabetes, hipertrigliceridemia y esteatosis hepática."},"it":{"name":"Lipodistrofia parziale familiare","synonyms":["FPLD"],"definition":"Si tratta di un gruppo di lipodistrofie genetiche rare, caratterizzate per lo più dalla perdita di grasso a livello degli arti e delle natiche, che si manifesta nell'infanzia o nella prima età adulta. Spesso si associa ad acanthosis nigricans, insulino-resistenza, diabete, ipertrigliceridemia e steatosi epatica."},"nl":{"name":"Familiale partiële lipodystrofie","synonyms":["FPLD"],"definition":"Een groep van zeldzame, genetische lipodystrofieën, in de meeste gevallen gekarakteriseerd door verlies van vet in ledematen en billen vanaf de kindertijd of vroege volwassenheid, vaak geassocieerd met acanthosis nigricans, insulineresistentie, diabetes, hypertriglyceridemie en leversteatose."},"pt":{"name":"Lipodistrofia parcial familiar"},"pl":{"name":"Rodzinna lipodystrofia częściowa","synonyms":["FplD"]},"cs":{"name":"Familiární parciální lipodystrofie","synonyms":["FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія","synonyms":["FPLD"],"definition":"A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis."},"zh":{"name":"家族性部分脂肪营养不良","synonyms":["FPLD"],"definition":"本病是一种罕见的遗传性脂肪营养不良症，大多数情况下，其特征是从童年或成年早期开始四肢和臀部脂肪消失，常与黑棘皮病、胰岛素抵抗、糖尿病、高甘油三酯血症和肝脏脂肪变性有关。"},"tr":{"name":"ailesel kısmi lipodistrofi","synonyms":["FPLD"]}},"xrefs":[{"source":"MONDO","code":"0020088","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271694","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11962","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087377","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]}],"children":[{"orpha":79085,"name":"AKT2-related familial partial lipodystrophy","type":"Disease"},{"orpha":280365,"name":"Autosomal semi-dominant severe lipodystrophic laminopathy","type":"Disease"},{"orpha":435651,"name":"CIDEC-related familial partial lipodystrophy","type":"Disease"},{"orpha":2348,"name":"Familial partial lipodystrophy, Dunnigan type","type":"Disease"},{"orpha":79084,"name":"Familial partial lipodystrophy, Köbberling type","type":"Disease"},{"orpha":435660,"name":"LIPE-related familial partial lipodystrophy","type":"Disease"},{"orpha":280356,"name":"PLIN1-related familial partial lipodystrophy","type":"Disease"},{"orpha":79083,"name":"PPARG-related familial partial lipodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2016[OTHER]_29066925[PMID]"}],"phenotypes":null}