{"orpha":435660,"name":"LIPE-related familial partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPLD6","LIPE-related FPLD"],"definition":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435660/","orphanet_url":"https://www.orpha.net/en/disease/detail/435660","names":{"fr":{"name":"Lipodystrophie partielle familiale associée à LIPE","synonyms":["FPLD associée à LIPE","FPLD6","LDPF associée à LIPE"],"definition":"Lipodystrophie génétique rare caractérisée par une répartition anormale de la graisse sous-cutanée, à l'origine d'une accumulation excessive de graisse au niveau du visage, du cou, des épaules, des aisselles, du tronc et de la région pubienne, ainsi que d'une perte de graisse sous-cutanée dans les membres inférieurs. Parmi les autres manifestations courantes, mais inconstantes, figurent une myopathie progressive apparaissant à l'âge adulte, une résistance à l'insuline, un diabète, une hypertriglycéridémie, une stéatose hépatique et un vitiligo."},"de":{"name":"Lipodystrophie, familiäre partielle, durch LIPE-Genmutation","synonyms":["FPLD6","LIPE-abhängige FPLD"],"definition":"Eine genetisch bedingte Lipodystrophie, die durch eine abnorme Verteilung des subkutanen Fetts gekennzeichnet ist und zu einer übermäßigen Ansammlung von Fett im Gesicht, am Hals, an den Schultern, in den Achselhöhlen, am Rumpf und in der Schamgegend sowie zu einem Verlust von subkutanem Fett an den unteren Extremitäten führt. Variable gemeinsame zusätzliche Merkmale sind eine progressive Myopathie bei Erwachsenen, Insulinresistenz, Diabetes, Hypertriglyceridämie, Lebersteatose und Vitiligo."},"es":{"name":"Lipodistrofia parcial familiar asociada al gen LIPE","synonyms":["FPLD asociada a LIPE","FPLD asociada al gen LIPE","FPLD6"],"definition":"Es una lipodistrofia genética poco frecuente caracterizada por una distribución anómala de la grasa subcutánea, provocando un acúmulo excesivo de grasa en la cara, cuello, hombros, axilas, tronco y región púbica, así como pérdida de grasa subcutánea en las extremidades inferiores. Otros rasgos variables comúnmente descritos incluyen miopatía progresiva de inicio en el adulto, resistencia a la insulina, diabetes, hipertrigliceridemia, esteatosis hepática y vitíligo."},"it":{"name":"Distrofia parziale familiare correlata a LIPE","definition":"È una lipodistrofia genetica rara, caratterizzata da anomalie della distribuzione del grasso sottocutaneo, che causano un accumulo eccessivo di grasso a livello del viso, del collo, delle spalle, delle ascelle, del tronco e del pube, mentre si osserva una perdita del grasso sottocutaneo negli arti inferiori. Altri segni clinici variabili sono la miopatia progressiva ad esordio nell'età adulta, la resistenza all'insulina, il diabete, l'ipertrigliceridemia, la steatosi epatica e la vitiligine."},"nl":{"name":"LIPE-gerelateerde familiale partiële lipodystrofie","synonyms":["FPLD6","LIPE-gerelateerde FPLD"],"definition":"Een zeldzame, genetische lipodystrofie die gekarakteriseerd wordt door abnormale verdeling van onderhuids vetweefsel, met als gevolg aan overmatige accumulatie van vet in het gelaat, de nek/hals, schouders, oksels, romp en schaamstreek, en verlies van subcutaan vet in de onderste ledematen. Variabele, bijkomende kenmerken die vaak voorkomen, zijn progressieve myopathie met aanvang in de volwassenheid, insulineresistentie, diabetes, hypertriglyceridemie, leversteatose, en vitiligo."},"pt":{"name":"Lipodistrofia parcial familiar LIPE-relacionada","synonyms":["Lipodistrofia parcial familiar associada a mutações no gene LIPE"]},"pl":{"name":"Rodzinna lipodystrofia częściowa zwiazana z LIPE","synonyms":["FplD związana z LIPE","FplD6"]},"cs":{"name":"LIPE-vázaná familiární parciální lipodystrofie","synonyms":["FPLD6","LIPE-vázaná FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія, повязана з LIPE","synonyms":["FPLD6","FPLD, повязаний з LIPE"],"definition":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo."},"zh":{"name":"LIPE相关性家族性部分脂肪代谢障碍","synonyms":["LIPE相关的FPLD"],"definition":"一种罕见的遗传性脂肪营养不良，其特征是皮下脂肪分布异常，导致面部，颈部，肩膀，腋窝，躯干和耻骨区域脂肪过多积聚，下肢皮下脂肪缺失。多样且常见的其他临床症状包括进行性成人期起病的肌病，胰岛素抵抗，糖尿病，高甘油三酯血症，肝脂肪变性和白癜风"},"tr":{"name":"LIPE-ilişkili ailesel kısmi lipodistrofi","synonyms":["FPLD6","LIPE-ilişkili FPLD"]}},"xrefs":[{"source":"OMIM","code":"615980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A44","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014431","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98306,"name":"Familial partial lipodystrophy","classifications":[156,187,193]}],"children":[],"genes":[{"symbol":"LIPE","name":"lipase E, hormone sensitive type","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25475467[PMID]","hgnc":"6621","ensembl":"ENSG00000079435","omim":"151750","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24848981[PMID]_27862896[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24848981[PMID]_27862896[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-28","source":"24848981[PMID]_24375490[PMID]","terms":[{"hpo":"HP:0000468","label":"Increased adipose tissue around the neck","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012881","label":"Abnormality of the labia majora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030685","label":"Decreased adiponectin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003292","label":"Decreased serum leptin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008993","label":"Increased intraabdominal fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009017","label":"Loss of gluteal subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null}]}}