{"orpha":435651,"name":"CIDEC-related familial partial lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CIDEC-related FPLD","FPLD5"],"definition":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435651/","orphanet_url":"https://www.orpha.net/en/disease/detail/435651","names":{"fr":{"name":"Lipodystrophie partielle familiale associée à CIDEC","synonyms":["FPLD5","LDPF associée à CIDEC","LDPF5"],"definition":"Lipodystrophie génétique rare caractérisée par une répartition anormale de la graisse sous-cutanée, à l'origine d'une accumulation de graisse dans les viscères, le cou et les régions axillaires, et d'une absence de graisse sous-cutanée dans la région fémoro-glutéale ainsi qu'au niveau des membres inférieurs. Les autres manifestations cliniques sont un acanthosis nigricans, un diabète sucré de type II insulinorésistant, une dyslipidémie et une hypertension, entraînant une pancréatite, une hépatomégalie et une stéatose hépatique."},"de":{"name":"Lipodystrophie, familiäre partielle, CIDEC-assoziierte","synonyms":["CIDEC-abhängige FPLD","FPLD5"],"definition":"Eine genetisch bedingte Lipodystrophie, die durch eine abnorme Verteilung des subkutanen Fettes gekennzeichnet ist, wobei die viszeralen, hals- und achselständigen Fettpolster erhalten sind und subkutanes Fett der unteren Gliedmaßen und des Femorogluteums fehlt. Weitere klinische Merkmale sind Akanthosis nigricans, insulinresistenter Diabetes mellitus Typ II, Dyslipidämie und Bluthochdruck, die zu Pankreatitis, Hepatomegalie und Lebersteatose führen."},"es":{"name":"Lipodistrofia parcial familiar asociada a CIDEC","synonyms":["FPLD5"],"definition":"Es una lipodistrofia genética y poco frecuente caracterizada por una distribución anómala de la grasa subcutánea provocada por un acúmulo de grasa visceral, cervical y axilar, y por la ausencia de grasa subcutánea en las extremidades inferiores y área femoroglútea. Otros hallazgos clínicos adicionales son acantosis nigricans, diabetes mellitus tipo II resistente a la insulina, dislipidemia e hipertensión, que evolucionan a pancreatitis, hepatomegalia y esteatosis hepática."},"it":{"name":"Lipodistrofia parziale familiare correlata a CIDEC","synonyms":["FPLD CIDEC-correlata"],"definition":"È una lipodistrofia genetica rara, caratterizzata da anomalie della distribuzione del grasso sottocutaneo; il grasso viscerale, ascellare e del collo è preservato, mentre è assente il grasso negli arti inferiori e a livello del femore e dei glutei. Altri segni clinici sono l'acanthosis nigricans, il diabete mellito insulino-resistente tipo II, la dislipidemia e l'ipertensione, che esitano nella pancreatite, nell'epatomegalia e nella stesatosi epatica."},"nl":{"name":"CIDEC-gerelateerde familiale partiële lipodystrofie","synonyms":["CIDEC-gerelateerde FPLD","FPLD5"],"definition":"Een zeldzame, genetische lipodystrofie die gekarakteriseerd wordt door abnormale verdeling van onderhuids vetweefsel, wat leidt tot behoud van visceraal vetweefsel en vetweefsel in de nek/hals en de oksels, en afwezigheid van vetweefsel in de onderste ledematen en femorogluteaal (heupen en bovenbenen) subcutaan vet. Bijkomende klinische kenmerken zijn acanthosis nigricans, insulineresistente type II diabetes mellitus, dyslipidemie, en hypertensie, met pancreatitis, hepatomegalie en leversteatose tot gevolg."},"pt":{"name":"Lipodistrofia parcial familiar CIDEC-relacionada","synonyms":["Lipodistrofia parcial familiar associada a mutações no gene CIDEC"]},"pl":{"name":"Rodzinna lipodystrofia częściowa zależna od CIDEC","synonyms":["FplD5","FplD zależna od CIDEC"]},"cs":{"name":"CIDEC-vázaná familiární parciální lipodystrofie","synonyms":["CIDEC-vázaná FPLD"]},"uk":{"name":"Сімейна часткова ліподистрофія, повязана з CIDEC","synonyms":["FPLD, повязані з CIDEC","FPLD5"],"definition":"A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis."},"zh":{"name":"CIDEC相关性家族性部分脂肪代谢障碍","synonyms":["CIDEC相关的FPLD"],"definition":"罕见的遗传性脂肪营养不良，其特征是皮下脂肪分布异常，导致内脏、颈部和腋窝存在脂肪，下肢和股臀皮下脂肪切实。其他临床特征包括黑棘皮病，胰岛素抵抗性II型糖尿病，血脂异常，高血压，胰腺炎，肝肿大和肝脂肪变性。"},"tr":{"name":"CIDEC-ilişkili ailesel kısmi lipodistrofi","synonyms":["FPLD5","CIDEC-ilişkili FPLD"]}},"xrefs":[{"source":"OMIM","code":"615238","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":"attributed","validated":true},{"source":"MONDO","code":"0014098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3808940","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":"CIDEC","name":"cell death inducing DFFA like effector c","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20049731[PMID]","hgnc":"24229","ensembl":"ENSG00000187288","omim":"612120","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20049731[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"20049731[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-28","source":"20049731[PMID]_18654663[PMID]","terms":[{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003635","label":"Loss of subcutaneous adipose tissue in limbs","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","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:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009017","label":"Loss of gluteal subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000292","label":"Loss of facial adipose tissue","frequency":"Excluded (0%)","criteria":null}]}}