{"orpha":79085,"name":"AKT2-related familial partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AKT2-related FPLD"],"definition":"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79085/","orphanet_url":"https://www.orpha.net/en/disease/detail/79085","names":{"fr":{"name":"Lipodystrophie partielle familiale associée à AKT2","synonyms":["LDPF associée à AKT2"],"definition":"Lipodystrophie partielle familiale rare caractérisée par l'apparition, à l'âge adulte, d'une lipoatrophie distale et d'une insulinorésistance sévère du foie et des tissus périphériques, d'une hyperinsulinémie et d'un diabète sucré. Des cas d'association avec l'acanthosis nigricans et l'hypertension ont été rapportés."},"de":{"name":"Lipodystrophie, familiäre partielle, durch AKT2-Genmutation","synonyms":["AKT2-abhängige FPLD","FPLD1"],"definition":"Eine seltene familiäre partielle Lipodystrophie, die durch eine im Erwachsenenalter auftretende distale Lipoatrophie und eine schwere Insulinresistenz in der Leber und den peripheren Geweben, Hyperinsulinämie und Diabetes mellitus gekennzeichnet ist. Acanthosis nigricans und Bluthochdruck wurden in Verbindung mit dieser Erkrankung berichtet."},"es":{"name":"Lipodistrofia parcial familiar asociada a AKT2","synonyms":["FPLD asociada a AKT2"],"definition":"Es una lipodistrofia parcial familiar poco frecuente caracterizada por la aparición en la edad adulta de lipoatrofia distal y una grave resistencia a la insulina en el hígado y los tejidos periféricos, hiperinsulinemia y diabetes mellitus. También se ha descrito la asociación con acantosis nigricans e hipertensión."},"it":{"name":"Lipodistrofia familiare parziale AKT2-correlata","synonyms":["FPLD AKT2-correlata"],"definition":"Si tratta di una lipodistrofia parziale familiare rara, che esordisce nell'età adulta con lipoatrofia distale e insulino-resistenza grave nel fegato e nei tessuti periferici, iperinsulinemia e diabete mellito. Può associarsi ad acantosi nigricans e ipertensione."},"nl":{"name":"AKT2-gerelateerde familiale partiële lipodystrofie","synonyms":["AKT2-gerelateerde FPLD"],"definition":"Een zeldzame, familiale partiele lipodystrofie, gekarakteriseerd door aanvang in de volwassenheid van distale lipoatrofie en ernstige insulineresistentie in lever en perifere weefsels, hyperinsulinemie, en diabetes mellitus. Associatie van acanthosis nigricans en hypertensie werd ook reeds gerapporteerd."},"pt":{"name":"Lipodistrofia parcial familiar AKT2-relacionada"},"pl":{"name":"Rodzinna lipodystrofia częściowa zależna od AKT2","synonyms":["FplD zależna od AKT2"]},"cs":{"name":"AKT2-vázaná familiární parciální lipodystrofie","synonyms":["AKT2-vázaná FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія, повязана з AKT2","synonyms":["FPLD, повязана з AKT2"],"definition":"A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association."},"zh":{"name":"AKT2相关性家族性部分脂肪营养障碍","synonyms":["AKT2相关性家族性FPLD"]},"tr":{"name":"AKT2-ilişkili ailesel kısmi lipodistrofi","synonyms":["AKT2-ilişkili FPLD"]}},"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":"1401460355"},{"source":"MONDO","code":"0019192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680134","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":"AKT2","name":"AKT serine/threonine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16409151[PMID]_21865368[PMID]","hgnc":"392","ensembl":"ENSG00000105221","omim":"164731","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"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":"2017-01-02","source":"15166380[PMID]_17327441[PMID]_17554339[PMID]_21865368[PMID]_22748602[PMID]","terms":[{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030685","label":"Decreased adiponectin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003292","label":"Decreased serum leptin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","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:0008993","label":"Increased intraabdominal fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","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}]}}