{"orpha":329249,"name":"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329249/","orphanet_url":"https://www.orpha.net/en/disease/detail/329249","names":{"fr":{"name":"Obésité sévère précoce avec résistance à l'insuline par déficit en SH2B1","definition":"Forme génétique rare d'obésité caractérisée par une obésité sévère précoce, une hyperphagie, une résistance à l'insuline avec hyperinsulinémie, une taille adulte définitive en dessous de la moyenne, un retard de développement de la parole et du langage et une tendance à l'isolement social accompagnée d'un comportement agressif."},"de":{"name":"Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel"},"es":{"name":"Síndrome grave de resistencia a insulina-obesidad por deficiencia de SH2B1 de inicio precoz","definition":"Es una forma de obesidad genética y poco frecuente caracterizada por obesidad grave de inicio temprano, hiperfagia, resistencia a la insulina con hiperinsulinemia, talla final en adultos disminuída/reducida, retraso del desarrollo del habla y del lenguaje y tendencia al aislamiento social y a la conducta agresiva."},"it":{"name":"Sindrome da obesità grave ad esordio precoce e insulino-resistenza da deficit di SH2B1","definition":"È una forma genetica rara di obesità caratterizzata da obesità grave ad esordio precoce, iperfagia, insulino-resistenza con iperinsulinemia, ridotta statura finale, ritardo dell'acquisizione del linguaggio e tendenza all'isolamento sociale e a comportamenti aggressivi."},"nl":{"name":"Ernstig obesitas-insulineresistentiesyndroom door SH2B1-deficiëntie met vroege aanvang","definition":"Een zeldzame, genetische vorm van obesitas die gekarakteriseerd wordt door ernstige en vroeg aanvangende obesitas, hyperfagie, insulineresistentie met hyperinsulinemie, kleinere volwassen finale lichaamslengte, vertraagde spraak- en taalontwikkeling en een neiging tot sociale isolatie en agressief gedrag."},"pt":{"name":"Síndrome de obesidade-resistência à insulina grave de início precoce por deficiência de SH2B1"},"pl":{"name":"Zespół ciężka otyłość o wczesnym początku z insulinoopornością spowodowany niedoborem SH2B1"},"cs":{"name":"Syndrom zahrnující těžkou obezitu s časným začátkem a inzulinovou rezistenci, způsobený SH2B1 deficitem"},"uk":{"name":"Тяжкий синдром раннього ожиріння та інсулінорезистентності, зумовлений дефіцитом SH2B1","definition":"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior."},"zh":{"name":"SH2B1基因缺陷引起的严重早发性肥胖-胰岛素抵抗综合征","definition":"一种罕见的遗传性肥胖症，其特征是严重的早发性肥胖、食欲不振、胰岛素抵抗伴高胰岛素血症、成人终末身高降低、言语和语言发育迟缓以及社会孤立和攻击性行为倾向。"},"tr":{"name":"SH2B1 eksikliğine bağlı ağır erken başlangıçlı obezite-insülin direnci sendromu"}},"xrefs":[{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B81.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017994","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98267,"name":"Genetic non-syndromic obesity","classifications":[156,193]}],"children":[],"genes":[{"symbol":"SH2B1","name":"SH2B adaptor protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23160192[PMID]","hgnc":"30417","ensembl":"ENSG00000178188","omim":"608937","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"23160192[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23160192[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-18","source":"20808231[PMID]_24971614[PMID]_23160192[PMID]","terms":[{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008763","label":"No social interaction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Excluded (0%)","criteria":null}]}}