{"orpha":369873,"name":"Obesity due to SIM1 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, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369873/","orphanet_url":"https://www.orpha.net/en/disease/detail/369873","names":{"fr":{"name":"Obésité par déficit en SIM1","definition":"Forme génétique rare d'obésité caractérisée par une obésité sévère à début précoce, une hyperphagie et la présence inconstante de troubles cognitifs et de troubles du comportement, dont des troubles du spectre de l'autisme, des troubles de la concentration et des troubles de la mémoire. Certains patients présentent des signes cliniques similaires à ceux du syndrome de Prader-Willi, tels qu'une hypotonie, un retard de développement, une déficience intellectuelle, une petite taille, une insuffisance hypophysaire et une dysmorphie faciale."},"de":{"name":"Adipositas durch SIM1-Mangel"},"es":{"name":"Obesidad por deficiencia de SIM1","definition":"Es un tipo de obesidad de origen genético y poco frecuente caracterizado por obesidad grave de inicio temprano, hiperfagia y manifestaciones variables de discapacidad cognitiva y trastornos de conducta, incluyendo conductas del espectro autista, alteraciones de la concentración y déficit de memoria. Algunos pacientes presentan hallazgos similares a los del síndrome de Prader-Willi, tales como hipotonía, retraso del desarrollo, discapacidad intelectual, talla baja, hipopituitarismo y rasgos faciales dismórficos."},"it":{"name":"Obesità da deficit di SIM1","definition":"È una forma genetica rara di obesità, caratterizzata da obesità grave ad esordio precoce, iperfagia e presenza variabile di deficit cognitivi e disturbi del comportamento (disturbo dello spetro autistico, difficoltà di concentrazione e deficit mnemonici). Alcuni pazienti presentano segni clinici suggestivi della sindrome di Prader-Willi, come l'ipotonia, il ritardo dello sviluppo, la disabilità intellettiva, la bassa statura, l'ipopituitarismo e i dismorfismi facciali."},"nl":{"name":"Obesitas door SIM1-deficiëntie","definition":"Een zeldzame, genetische vorm van obesitas die gekarakteriseerd wordt door ernstige en vroeg aanvangende obesitas, hyperfagie, en variabele aanwezigheid van cognitieve beperking en gedragsstoornissen, waaronder autismespectrum-, concentratie- en geheugenstoornis. Sommige patiënten vertonen Prader-Willi-achtige kenmerken zoals hypotonie, ontwikkelingsachterstand, intellectuele beperking, kleine gestalte, hypopituïtarisme en dysmorfe gelaatskenmerken."},"pt":{"name":"Obesidade devida a défice de SIM1"},"pl":{"name":"Otyłość spowodowana niedoborem SIM1"},"cs":{"name":"Obezita způsobená deficitem SIM1"},"uk":{"name":"Ожиріння через дефіцит SIM1","definition":"A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features."},"zh":{"name":"SIM1基因缺陷所致肥胖","definition":"本病是一种罕见的遗传性肥胖症，其特征为严重的早发性肥胖症、食欲过盛以及不同程度的认知障碍和行为障碍，包括自闭症谱系行为、注意力减退和记忆障碍。部分患者表现为肌张力低下、发育迟缓、智力残疾、身材矮小、垂体功能减退和面部畸形等Prader-Willi样特征。"},"tr":{"name":"SIM1 eksikliğine bağlı obezite"}},"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":"0018244","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191050","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":"SIM1","name":"SIM bHLH transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23778136[PMID]_23778139[PMID]","hgnc":"10882","ensembl":"ENSG00000112246","omim":"603128","loci":["6q16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23778136[PMID]_23778139[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-18","source":"10587584[PMID]_23778139[PMID]_23778136[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100503","label":"Low levels of vitamin B1","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:0005307","label":"Postural hypotension with compensatory tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012339","label":"Increased resting energy expenditure","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Excluded (0%)","criteria":null}]}}