{"orpha":66628,"name":"Obesity due to congenital leptin deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66628/","orphanet_url":"https://www.orpha.net/en/disease/detail/66628","names":{"fr":{"name":"Obésité par déficit congénital en leptine","definition":"Le déficit congénital en leptine est une forme d'obésité monogénique caractérisée par une obésité sévère à début précoce et une hyperphagie prononcée."},"de":{"name":"Adipositas durch angeborenen Leptinmangel","synonyms":["Leptinmangel, kongenitaler"],"definition":"Der Angeborene Leptinmangel ist eine Form von monogen vererbter Adipositas. Sie ist schwer ausgeprägt, beginnt früh und ist mit erheblicher Hyperphagie verbunden."},"es":{"name":"Obesidad por deficiencia congénita de leptina","definition":"La deficiencia congénita de leptina es una forma de obesidad monogénica caracterizada por obesidad grave de inicio temprano e hiperfagia acusada."},"it":{"name":"Obesità da deficit congenito di leptina"},"nl":{"name":"Obesitas door congenitale deficiëntie van leptine","definition":"Congenitale deficiëntie van leptine is een vorm van monogene obesitas, gekenmerkt door ernstige, vroeg optredende obesitas en uitgesproken hyperfagie."},"pt":{"name":"Obesidade por deficiência de leptina congénita"},"pl":{"name":"Otyłość spowodowana wrodzonym niedoborem leptyny"},"cs":{"name":"Obezita způsobená vrozeným nedostatkem leptinu"},"uk":{"name":"Ожиріння через вроджений дефіцит лептину","definition":"Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia."},"zh":{"name":"先天性瘦素缺乏所致肥胖症"},"tr":{"name":"Letal leptin eksikliğine bağlı obezite"}},"xrefs":[{"source":"OMIM","code":"614962","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":"591009309"},{"source":"MONDO","code":"0013991","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13015","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":98267,"name":"Genetic non-syndromic obesity","classifications":[156,193]}],"children":[],"genes":[{"symbol":"LEP","name":"leptin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26567097[PMID]","hgnc":"6553","ensembl":"ENSG00000174697","omim":"164160","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2017-02-20","source":"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: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}]}}