{"orpha":79083,"name":"PPARG-related familial partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPLD3","Familial partial lipodystrophy type 3","PPARG-related FPLD"],"definition":"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79083/","orphanet_url":"https://www.orpha.net/en/disease/detail/79083","names":{"fr":{"name":"Lipodystrophie partielle familiale associée à PPARG","synonyms":["LDPF3","Lipodystrophie partielle familiale type 3","LDPF associée à PPARG"],"definition":"Lipodystrophie partielle familiale rare caractérisée par l'apparition, à l'âge adulte, d'une lipoatrophie distale avec perte de tissu adipeux affectant les fesses, ainsi que par une accumulation de tissu adipeux au niveau du visage et du tronc et une adiposité viscérale. Parmi les autres manifestations figurent le diabète sucré, la dyslipidémie athérogène, le xanthélasma des paupières, l'hypertension artérielle, les maladies cardiovasculaires, la stéatose hépatique, l'acanthosis nigricans sur les aisselles et le cou, l'hirsutisme et l'hypertrophie musculaire des membres inférieurs."},"de":{"name":"Lipodystrophie, familiäre partielle, durch PPARG-Genmutation","synonyms":["FPLD3","Lipodystrophie, familiäre partielle, Typ 3","PPARG-abhängige FPLD"],"definition":"Eine seltene familiäre partielle Lipodystrophie, bei der im Erwachsenenalter eine distale Lipoatrophie mit gluteofemoralem Fettverlust sowie eine vermehrte Fettansammlung im Gesicht und am Rumpf und viszerale Adipositas auftreten. Weitere Manifestationen sind Diabetes mellitus, atherogene Dyslipidämie, Xanthelasmen der Augenlider, arterielle Hypertonie, kardiovaskuläre Erkrankungen, hepatische Steatose, Acanthosis nigricans an den Achseln und am Hals, Hirsutismus und Muskelhypertrophie der unteren Extremitäten."},"es":{"name":"Lipodistrofia parcial familiar asociada a PPARG","synonyms":["FPLD asociada a PPARG","FPLD3","Lipodistrofia parcial familiar tipo 3"],"definition":"Es una lipodistrofia parcial familiar poco frecuente caracterizada por la aparición en la edad adulta de lipoatrofia distal con pérdida de grasa glúteo-femoral, así como un acúmulo de grasa en la cara y el tronco y adiposidad visceral. Otras manifestaciones adicionales son diabetes mellitus, dislipidemia aterogénica, xantelasmas en los párpados, hipertensión arterial, enfermedad cardiovascular, esteatosis hepática, acantosis nigricans en las axilas y el cuello, hirsutismo e hipertrofia muscular de los miembros inferiores."},"it":{"name":"Lipodistrofia parziale familiare PPARG-correlata","synonyms":["FPLD PPARG-correlato","FPLD3","Lipodistrofia parziale familiare, tipo 3"],"definition":"Si tratta di una lipodistrofia parziale familiare rara, che esordisce nell'età adulta con lipoatrofia distale con perdita di grasso gluteo-femorale, accumulo di grasso sul viso e nel tronco, e adiposità viscerale. I pazienti possono presentare anche diabete mellito, dislipidemia aterogena, xantelasmi della palpebra, ipertensione arteriosa, malattie cardiovascolari, steatosi epatica, acantosi nigricans su ascelle e collo, irsutismo e ipertrofia dei muscoli degli arti inferiori."},"nl":{"name":"PPARG-gerelateerde familiale partiële lipodystrofie","synonyms":["FPLD3","Familiale partiële lipodystrofie type 3","PPARG-gerelateerde FPLD"],"definition":"Een zeldzame familiale partiele lipodystrofie, gekenmerkt door in de volwassenheid optredende distale lipoatrofie met verlies van gluteofemoraal vet, alsook verhoogde accumulatie van vet in aangezicht en romp, en viscerale obesitas. Bijkomende manifestaties zijn onder meer diabetes mellitus, atherogene dyslipidemie, xanthelasmata van oogleden, arteriële hypertensie, cardiovasculaire aandoening, leversteatose, acanthosis nigricans op oksels en hals, hirsutisme, en spierhypertrofie van onderste ledematen."},"pt":{"name":"Lipodistrofia parcial familiar PPARG-relacionada","synonyms":["FPLD3","Lipodistrofia parcial familiar tipo 3"]},"pl":{"name":"Rodzinna lipodystrofia częściowa zależna od PPARG","synonyms":["FplD zależna od PPARG","FplD3","Rodzinna częściowa lipodystrofia typu 3"]},"cs":{"name":"PPARG-vázaná familiární parciální lipodystrofie","synonyms":["FPLD3","Familiární parciální lipodystrofie, typ 3","PPARG-vázaná FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія, повязана з PPARG","synonyms":["Сімейна часткова ліподистрофія типу 3","FPLD3","FPLD, повязані з PPARG"],"definition":"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs."},"zh":{"name":"PPARG相关性家族性部分脂肪营养障碍","synonyms":["家族性部分性脂肪营养不良3型"]},"tr":{"name":"PPARG-ilişkili ailesel kısmi lipodistrofi","synonyms":["FPLD3","PPARG-ilişkili FPLD","Ailesel kısmi lipodistrofi tip 3"]}},"xrefs":[{"source":"OMIM","code":"604367","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":"2042807932"},{"source":"MONDO","code":"0011448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720861","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12600","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":"PPARG","name":"peroxisome proliferator activated receptor gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12453919[PMID]_11788685[PMID]","hgnc":"9236","ensembl":"ENSG00000132170","omim":"601487","loci":["3p25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"16409151[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":"2017-01-04","source":"27710244[PMID]_11788685[PMID]_10622252[PMID]_12453919[PMID]_12663460[PMID]","terms":[{"hpo":"HP:0000822","label":"Hypertension","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","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:0000831","label":"Insulin-resistant diabetes mellitus","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:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012084","label":"Abnormality of skeletal muscle fiber size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100601","label":"Eclampsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000292","label":"Loss of facial adipose tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Very rare (<4-1%)","criteria":null}]}}