{"orpha":79086,"name":"Acquired generalized lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired lipoatrophic diabetes","Lawrence syndrome","Lawrence-Seip syndrome"],"definition":"A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79086/","orphanet_url":"https://www.orpha.net/en/disease/detail/79086","names":{"fr":{"name":"Lipodystrophie généralisée acquise","synonyms":["Diabète lipoatrophique acquis","Syndrome de Lawrence","Syndrome de Lawrence-Seip"],"definition":"La lipodystrophie généralisée acquise (LGA) appartient au groupe des syndromes lipodystrophiques caractérisés par une perte de tissu adipeux, et est un syndrome d'insulino-résistance entraînant un risque cardiovasculaire accru. La lipodystrophie généralisée acquise est liée à une perte sélective du tissu adipeux sous-cutané au niveau de zones corporelles étendues (visage, jambes, bras, parfois paumes et plantes de pied)."},"de":{"name":"Lipodystrophie, erworbene generalisierte","synonyms":["Diabetes, erworbener lipoatrophischer","Lawrence-Syndrom"],"definition":"Die Erworbene generalisierte Lipodystrophie, auch Lawrence-Syndrom genannt, gehört zu einer Gruppe lipodystropher Syndrome mit Verlust des Fettgewebes. Sie ist gekennzeichnet durch Insulinresistenz mit erhöhten kardiovaskulären Risiken. Bei der erworbenen generalisierten Lipodystrophie besteht ein selektiver Verlust des subkutanen Fettgewebes im Gesicht, Amen, Beinen, Handinnenflächen und manchmal auch Fußsohlen."},"es":{"name":"Lipodistrofia generalizada adquirida","synonyms":["Diabetes lipoatrófica adquirida","Síndrome de Lawrence"],"definition":"Es un síndrome lipodistrófico poco frecuente caracterizado por una pérdida de tejido adiposo, siendo un síndrome de resistencia a la insulina que conlleva un aumento del riesgo cardiovascular. Esta enfermedad está relacionada con una pérdida selectiva del tejido adiposo subcutáneo que ocurre exclusivamente en las extremidades (cara, piernas, brazos, palmas y, ocasionalmente, plantas de los pies)."},"it":{"name":"Lipodistrofia generalizzata acquisita","synonyms":["Diabete lipoatrofico acquisito","Sindrome di Lawrence","Sindrome di Lawrence-Seip"]},"nl":{"name":"Verworven gegeneraliseerde lipodystrofie","synonyms":["Syndroom van Lawrence","Syndroom van Lawrence-Seip","Verworven lipoatrofische diabetes"],"definition":"Een zeldzaam lipodystrofisch syndroom, gekenmerkt door verlies van vetweefsel, en een insulineresistentiesyndroom dat leidt tot verhoogd cardiovasculair risico. Verworven gegeneraliseerde lipodystrofie is gerelateerd aan selectief verlies van subcutaan vetweefsel dat enkel optreedt aan extremiteiten (aangezicht, benen, armen, handpalmen en soms voetzolen)."},"pt":{"name":"Lipodistrofia generalizada adquirida","synonyms":["Diabetes lipoatrófica adquirida","Síndrome de Lawrence"]},"pl":{"name":"Nabyta uogólniona lipodystrofia","synonyms":["Nabyta cukrzyca lipoatroficzna","Zespół Lawrence'a","Zespół Lawrence'a i Seipa"]},"cs":{"name":"Získaná generalizovaná lipodystrofie","synonyms":["Získaný lipoatrofický diabetes","Lawrencův syndrom","Lawrencův-Seipův syndrom","Lawrence-Seipův syndrom"]},"uk":{"name":"Набута генералізована ліподистрофія","synonyms":["Набутий ліпоатрофічний діабет","Синдром Лоуренса","Синдром Лоуренса-Сейпа"],"definition":"A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)."},"zh":{"name":"获得性全身性脂质营养不良","synonyms":["获得性脂肪萎缩性糖尿病"]},"tr":{"name":"Edinsel jeneralize lipodistrofi","synonyms":["Lawrence sendromu","Lawrence-Seip sendromu","Edinsel lipoatrofik diyabet"]}},"xrefs":[{"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":"1680480280"},{"source":"MONDO","code":"0019193","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271693","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087376","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98307,"name":"Acquired lipodystrophy","classifications":[187,193]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-05","source":"11078466[PMID]_22748602[PMID]_25864863[PMID]_20551664[PMID]_19924491[PMID]_20616664[PMID]_19924491[PMID]_17097389[PMID]_26252356[PMID]","terms":[{"hpo":"HP:0009064","label":"Generalized lipodystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011025","label":"Abnormality of cardiovascular system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005339","label":"Abnormality of complement system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001735","label":"Acute pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012490","label":"Panniculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012064","label":"Unicameral bone cyst","frequency":"Very rare (<4-1%)","criteria":null}]}}