{"orpha":179494,"name":"Obesity due to leptin receptor gene deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-179494/","orphanet_url":"https://www.orpha.net/en/disease/detail/179494","names":{"fr":{"name":"Obésité par déficit en récepteur de la leptine","definition":"Obésité non syndromique génétique rare caractérisée par une obésité sévère à début précoce, associée à une importante hyperphagie et à des anomalies endocriniennes, résultant d'un déficit en récepteur de la leptine."},"de":{"name":"Adipositas durch Leptin-Rezeptor-Genmutationen","definition":"Eine seltene, genetisch bedingte, nicht-syndromale Form der Adipositas, die durch eine schwere, früh einsetzende Obesitas gekennzeichnet ist, die mit einer starken Hyperphagie und endokrinen Anomalien einhergeht und auf einem Leptinrezeptormangel beruht."},"es":{"name":"Obesidad por deficiencia del gen receptor de leptina","definition":"Es un tipo no sindrómico de obesidad de origen genético y poco frecuente caracterizado por obesidad grave de inicio temprano, asociada a hiperfagia significativa y anomalías endocrinas resultantes de la deficiencia del receptor de leptina."},"it":{"name":"Obesità da deficit del recettore della leptina","definition":"È un'obesità genetica rara non sindromica, caratterizzata da obesità grave ad esordio precoce, associata a marcata iperfagia ed anomalie endocrine. La malattia è causata da un deficit del recettore della leptina."},"nl":{"name":"Obesitas door leptinereceptorgendeficiëntie","definition":"Een zeldzame, genetische, niet-syndromale obesitas die gekarakteriseerd wordt door ernstige obesitas met vroege aanvang, geassocieerd met aanzienlijke hyperfagie en endocriene afwijkingen, als gevolg van deficiëntie van leptinereceptor."},"pt":{"name":"Obesidade por deficiência no gene do recetor da leptina"},"pl":{"name":"Otyłość z powodu niedoboru genu receptora dla leptyny"},"cs":{"name":"Obezita způsobená poruchou genu pro leptinový receptor"},"uk":{"name":"Ожиріння через дефіцит гена рецептора лептину","definition":"A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency."},"zh":{"name":"瘦素受体基因缺陷所致肥胖","definition":"瘦蛋白受体缺乏所致肥胖症是一种罕见的遗传性非综合征性肥胖症，由于瘦蛋白受体缺乏所致，其主要临床表现为重度早发性肥胖，主要与过度进食和内分泌异常有关。"},"tr":{"name":"Leptin reseptör gen eksikliğine bağlı obezite"}},"xrefs":[{"source":"OMIM","code":"614963","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B81.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"997823205"},{"source":"MONDO","code":"0013992","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181390,"name":"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature","classifications":[156,193,201,205]},{"orpha":179490,"name":"Obesity due to congenital leptin resistance","classifications":[156,193]}],"children":[],"genes":[{"symbol":"LEPR","name":"leptin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9537324[PMID]_17229951[PMID]","hgnc":"6554","ensembl":"ENSG00000116678","omim":"601007","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-20","source":"17229951[PMID]_9537324[PMID]_10486419[PMID]_9202122[PMID]","terms":[{"hpo":"HP:0003292","label":"Decreased serum leptin","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005419","label":"Decreased T cell activation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008724","label":"Hypoplasia of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null}]}}