{"orpha":280356,"name":"PLIN1-related familial partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPLD4","PLIN1-related FPLD"],"definition":"A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280356/","orphanet_url":"https://www.orpha.net/en/disease/detail/280356","names":{"fr":{"name":"Lipodystrophie partielle familiale associée à PLIN1","synonyms":["FPLD4","LDPF associée à PLIN1","LDPF4"],"definition":"Lipodystrophie génétique rare caractérisée par une perte de tissu adipeux sous-cutané affectant essentiellement les membres inférieurs et la région glutéale, due à un défaut dans le gène <i>PLIN1</i>. Les signes associés fréquents sont résistance à l'insuline, stéatose hépatique, dyslipidémie, hypertension, acanthosis nigricans axillaire et hypertrophie musculaire des membres inférieurs."},"de":{"name":"Lipodystrophie, familiäre partielle, PLIN1-abhängige","synonyms":["FPLD durch PLIN1-Genmutationen","FPLD4","PLIN1-bedingte FPLD"]},"es":{"name":"Lipodistrofia parcial familiar asociada al gen PLIN1","synonyms":["FPLD asociada a PLIN1","FPLD asociada al gen PLIN1","FPLD4"],"definition":"Es una lipodistrofia genética poco frecuente caracterizada por la pérdida de tejido adiposo subcutáneo que afecta, principalmente, a las extremidades inferiores y a la región glútea, causada por un defecto en el gen <i>PLIN1</i>. Asocia, típicamente, resistencia a insulina, esteatosis hepática, dislipidemia, hipertensión, acantosis nigricans axilar e hipertrofia muscular en las extremidades inferiores."},"it":{"name":"Lipodistrofia parziale familiare PLIN1-correlata","synonyms":["FPLD PLIN1-correlata","FPLD4"],"definition":"È una lipodistrofia genetica rara caratterizzata dalla perdita del tessuto adiposo sottocutaneo, che interessa soprattutto gli arti inferiori e i glutei. La malattia è causata da un difetto del gene PLIN1. Altri segni clinici caratteristici sono l'insulino-resistenza, la steatosi epatica, la dislipidemia, l'ipertensione, l'acanthosis nigricans ascellare e l'ipertrofia dei muscoli degli arti inferiori."},"nl":{"name":"PLIN1-gerelateerde familiale partiële lipodystrofie","synonyms":["FPLD4","PLIN1-gerelateerde FPLD"],"definition":"Een zeldzame, genetische lipodystrofie die gekarakteriseerd wordt door verlies van of subcutaan vetweefsel, voornamelijk aan de onderste ledematen en gluteale regio, als gevolg van een defect in het gen <i>PLIN1</i>. Insulineresistentie, leversteatose, dyslipidemie, hypertensie, acanthosis nigricans aan de oksels en hypertrofie van spieren in de onderste ledematen zijn gangbaar geassocieerde kenmerken."},"pt":{"name":"Lipodistrofia parcial familiar PLIN1-relacionada"},"pl":{"name":"Rodzinna częściowa lipodystrofia zależna od plIN1","synonyms":["FplD zależna od plIN1","FplD4"]},"cs":{"name":"PLIN1-vázaná familiární parciální lipodystrofie","synonyms":["FPLD4","PLIN1-vázaný FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія, повязана з PLIN1","synonyms":["FPLD4","FPLD, повязані з PLIN1"],"definition":"A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical."},"zh":{"name":"PLIN1基因相关的家族性局部脂肪代谢障碍","synonyms":["PLIN1基因相关FPLD"],"definition":"PLIN1基因相关的家族性局部性脂肪营养不良是一种罕见的遗传性脂肪营养不良，其特征是由于PLIN1基因缺陷导致皮下脂肪组织丢失，主要影响下肢和臀部。典型特征为胰岛素抵抗、肝脂肪变性、血脂异常、高血压、腋窝黑棘皮病和下肢肥大。"},"tr":{"name":"PLIN1-ilişkili ailesel kısmi lipodistrofi","synonyms":["FPLD4","PLIN1-ilişkili FPLD"]}},"xrefs":[{"source":"OMIM","code":"613877","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":"index","validated":true,"icd11_uri":"98904071"},{"source":"MONDO","code":"0013478","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191005","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]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"PLIN1","name":"perilipin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21345103[PMID]","hgnc":"9076","ensembl":"ENSG00000166819","omim":"170290","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"21345103[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-20","source":"21345103[PMID]_18256394[PMID]_18256390[PMID]_12927424[PMID]_22685055[PMID]_17908770[PMID]_7068697[PMID]_4552697[PMID]","terms":[{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000877","label":"Insulin-resistant diabetes mellitus at puberty","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000789","label":"Infertility","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:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003117","label":"Abnormality of circulating hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null}]}}