{"orpha":2348,"name":"Familial partial lipodystrophy, Dunnigan type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dunnigan syndrome","FPLD2","Familial partial lipodystrophy type 2"],"definition":"A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2348/","orphanet_url":"https://www.orpha.net/en/disease/detail/2348","names":{"fr":{"name":"Lipodystrophie partielle familiale de Dunnigan","synonyms":["Syndrome de Dunnigan","FPLD2","Lipodystrophie partielle familiale type 2"],"definition":"Lipodystrophie génétique rare caractérisée par une perte de tissu adipeux sous-cutané qui affecte le tronc, les fesses et les membres ; une accumulation du tissu adipeux au niveau du visage et du cou, les régions axillaires et pelviennes ; une hypertrophie musculaire ; et généralement associée à des complications métaboliques telles que l'insulinorésistance, le diabète sucré, la dyslipidémie et la stéatose hépatique."},"de":{"name":"Lipodystrophie, familiäre partielle, Typ Dunnigan","synonyms":["Dunnigan-Syndrom","FPLD2","Lipodystrophie, familiäre partielle, Typ 2"],"definition":"Eine seltene genetisch bedingte Lipodystrophie, die durch einen Verlust von subkutanem Fettgewebe an Rumpf, Gesäß und Gliedmaßen, Fettansammlungen an Hals, Gesicht, Achseln und Becken sowie Muskelhypertrophie gekennzeichnet ist. Sie geht in der Regel mit metabolischen Komplikationen wie Insulinresistenz, Diabetes mellitus, Dyslipidämie und Fettleber einher."},"es":{"name":"Lipodistrofia parcial familiar tipo Dunnigan","synonyms":["FPLD2","Lipodistrofia parcial familiar tipo 2","Síndrome de Dunnigan"],"definition":"Es una lipodistrofia genética poco frecuente caracterizada por una pérdida de tejido adiposo subcutáneo en el tronco, las nalgas y las extremidades; un acúmulo de grasa en el cuello, la cara, las regiones axilar y pélvica; hipertrofia muscular; y, generalmente, asociada a alteraciones metabólicas como insulinorresistencia, diabetes mellitus, dislipidemia y esteatosis hepática."},"it":{"name":"Lipodistrofia parziale familiare, tipo Dunnigan","synonyms":["FPLD2","Lipodistrofia parziale familiare, tipo 2","Sindrome di Dunnigan"],"definition":"La lipodistrofia parziale familiare tipo Dunnigan (FPLD2) è una lipodistrofia genetica rara caratterizzata dalla perdita del tessuto adiposo sottocutaneo a livello del tronco, dei glutei e degli arti, dall'accumulo di grasso sul collo, sul viso, a livello delle ascelle e del bacino, e da ipertrofia muscolare. Di solito si associa a complicanze metaboliche come l'insulino-resistenza, il diabete mellito, la dislipidemia e la steatosi epatica."},"nl":{"name":"Familiale partiële lipodystrofie, Dunnigan-type","synonyms":["FPLD2","Familiale partiële lipodystrofie type 2","Syndroom van Dunnigan"],"definition":"Een zeldzame, genetische lipodystrofie, gekarakteriseerd door verlies van subcutaan vetweefsel in romp, billen en ledematen, accumulatie van vet in nek, aangezicht, bekken- en okselstreek, spierhypertrofie, en meestal geassocieerd met metabole complicaties zoals insulineresistentie, diabetes mellitus, dyslipidemie, en leversteatose."},"pt":{"name":"Lipodistrofia parcial familiar, tipo Dunnigan","synonyms":["Lipodistrofia parcial familiar tipo 2","Síndrome Dunnigan"]},"pl":{"name":"Rodzinna lipodystrofia częściowa typu Dunnigana","synonyms":["Rodzinna lipodystrofia częściowa typu 2","Zespół Dunnigana"]},"cs":{"name":"Familiární parciální lipodystrofie, Dunniganův typ","synonyms":["Dunniganuv syndrom","FPLD2","Familiární parciální lipodystrofie, typ 2","Dunniganův syndrom"]},"uk":{"name":"Сімейна часткова ліподистрофія, тип Даннігана","synonyms":["Синдром Даннігана","Сімейна часткова ліподистрофія 2 типу","FPLD2"],"definition":"A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis."},"zh":{"name":"家族性局部脂肪代谢障碍Dunnigan 型","synonyms":["家族性局部脂肪代谢障碍2型"]},"tr":{"name":"ailesel kısmi lipodistrofi, Dunnigan tipi","synonyms":["FPLD2","Dunnigan sendromu","Ailesel kısmi lipodistrofi tip 2"]}},"xrefs":[{"source":"OMIM","code":"151660","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":"2068585355"},{"source":"MONDO","code":"0007906","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3126","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":137871,"name":"OBSOLETE: Laminopathy type Decaudain-Vigouroux","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98306,"name":"Familial partial lipodystrophy","classifications":[156,187,193]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":300763,"name":"Laminopathy with lipodystrophy","classifications":[156]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10739751[PMID]_10587585[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006288","label":"Advanced eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005339","label":"Abnormality of complement system","frequency":"Occasional (29-5%)","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:0100658","label":"Cellulitis","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:0006824","label":"Cranial nerve paralysis","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:0100820","label":"Glomerulopathy","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:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","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}]}}