{"orpha":79084,"name":"Familial partial lipodystrophy, Köbberling type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FPLD1","Familial partial lipodystrophy type 1"],"definition":"Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79084/","orphanet_url":"https://www.orpha.net/en/disease/detail/79084","names":{"fr":{"name":"Lipodystrophie partielle familiale type Köbberling","synonyms":["LDPF1","Lipodystrophie partielle familiale type 1"],"definition":"Forme très rare de lipodystrophie partielle familiale (FPLD pour familial partial lipodystrophy) de cause inconnue, caractérisée par une lipoatrophie limitée aux membres et une répartition normale ou une accumulation du tissu adipeux au niveau du visage, du cou et du tronc. La maladie peut être associée à l'hypertension artérielle et au diabète. Le mode de transmission serait autosomique dominant."},"de":{"name":"Lipodystrophie, familiäre partielle, Typ Köbberling"},"es":{"name":"Lipodistrofia parcial familiar tipo Köbberling","synonyms":["FPLD1","Lipodistrofia familiar parcial tipo 1"],"definition":"Es una forma muy poco frecuente de lipodistrofia familiar parcial (FPLD) de etiología desconocida caracterizada por lipoatrofia limitada a las extremidades y una distribución de la grasa normal o incrementada en la cara, cuello y tronco. También se han asociado hipertensión arterial y diabetes. La herencia se cree que sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Lipodistrofia parziale familiare, tipo Köbberling","synonyms":["FPLD1","Lipodistrofia parziale familiare, tipo 1"],"definition":"La lipodistrofia parziale familiare tipo Köbberling è una forma molto rara di lipodistrofia parziale familiare (FPLD; si veda questo termine) la cui eziologia non è nota. È caratterizzata da lipoatrofia che interessa unicamente gli arti e da una distribuzione normale o aumentata di tessuto adiposo sul viso, sul collo e sul tronco. Può associarsi a ipertensione arteriosa e diabete. È stata ipotizzata una trasmissione autosomica dominante."},"nl":{"name":"Familiale partiële lipodystrofie, Köbberling-type","synonyms":["FPLD1","Familiale partiële lipodystrofie type 1"],"definition":"Familiale partiële lipodystrofie, Köbberling-type, is een zeer zeldzame vorm van familiale partiële lipodystrofie (FPLD; zie deze term) met een onbekende etiologie, en wordt gekarakteriseerd door lipoatrofie die beperkt blijft tot de ledematen en een normale of verhoogde vetverdeling aan het gelaat, nek/hals en romp. Arteriële hypertensie en diabetes werden ook reeds geassocieerd. Overerving gebeurt vermoedelijk autosomaal dominant."},"pt":{"name":"Lipodistrofia parcial familiar, tipo Köbberling","synonyms":["FPLD1","Lipodistrofia parcial familiar tipo 1"]},"pl":{"name":"Rodzinna lipodystrofia częściowa, typ Köbberlinga","synonyms":["FplD1","Rodzinna lipodystrofia częściowa typu 1"]},"cs":{"name":"Familiární parciální lipodystrofie, Köbberlingův typ","synonyms":["FPLD1","Familiární parciální lipodystrofie, typ 1"]},"uk":{"name":"Сімейна часткова ліподистрофія, тип Кебберлінга","synonyms":["Сімейна часткова ліподистрофія типу 1","FPLD1"],"definition":"Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant."},"zh":{"name":"家族性部分脂肪营养障碍，K÷bberling 型","synonyms":["家族性部分性脂肪营养不良１型"]},"tr":{"name":"Ailesel kısmi lipodistrofi, Köbberling tipi","synonyms":["FPLD1","Ailesel kısmi lipodistrofi tip 1"]}},"xrefs":[{"source":"OMIM","code":"608600","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":"1790224502"},{"source":"MONDO","code":"0012072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1720859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12598","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":300763,"name":"Laminopathy with lipodystrophy","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15298354[PMID]_18041775[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":"2016-06-01","source":"12766116[PMID]","terms":[{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","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:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null}]}}