{"orpha":99704,"name":"Early-onset obesity-hyperphagia-severe developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OBHD"],"definition":"A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99704/","orphanet_url":"https://www.orpha.net/en/disease/detail/99704","names":{"fr":{"name":"Syndrome d'obésité précoce-hyperphagie-retard du développement sévère","synonyms":["OBHD"],"definition":"Obésité syndromique rare caractérisée par une obésité sévère d'apparition précoce, une hyperphagie et un retard global de développement associés à des troubles spécifiques de la mémoire à court terme et à un retard de langage. Les patients peuvent présenter une déficience intellectuelle modérée, des comportements stéréotypés, des caractéristiques de l'autisme, une altération de la nociception, une hypotonie et des crises d'épilepsie. Une asymétrie faciale et des ovaires striés ont également été décrits dans quelques cas."},"de":{"name":"Syndrom der früh einsetzenden Adipositas mit Hyperphagie und schwerer Entwicklungsverzögerung","synonyms":["OBHD"]},"es":{"name":"Síndrome de obesidad-hiperfagia-retraso del desarrollo grave de inicio precoz","definition":"Es una forma poco frecuente de obesidad sindrómica caracterizada por obesidad grave de aparición precoz, hiperfagia y retraso global del desarrollo con deterioro específico de la memoria a corto plazo y retraso del lenguaje. Los pacientes pueden presentar discapacidad intelectual moderada, conductas estereotipadas, rasgos del espectro autista, alteración de la nocicepción, hipotonía y crisis epilépticas. En algunos casos también se ha descrito asimetría facial y disgenesia ovárica."},"it":{"name":"Sindrome da obesità a esordio precoce - iperfagia - grave ritardo dello sviluppo","synonyms":["OBHD"]},"nl":{"name":"Vroeg optredende obesitas - hyperfagie - ernstige ontwikkelingsachterstand-syndroom","synonyms":["OBHD"],"definition":"Een zeldzame syndromale obesitas, gekenmerkt door vroeg optredende, ernstige obesitas, hyperfagie en algehele ontwikkelingsachterstand met specifieke functiestoornis van kortetermijngeheugen en taalachterstand. Patiënten vertonen mogelijk matige intellectuele achterstand, stereotiepe routines, autistische kenmerken, verstoorde pijnperceptie, hypotonie en insulten. Asymmetrie van het aangezicht en onontwikkelde eierstokken (\"streak\"-ovaria) werden ook reeds gerapporteerd in enkele gevallen."},"pt":{"name":"Síndrome de obesidade-hiperfagia-atraso grave do desenvolvimento de início precoce","synonyms":["OBHD"],"definition":"Obesidade sindrómica rara caracterizada por obesidade grave de início precoce, hiperfagia e atraso global do desenvolvimento com compromisso específico da memória de curto prazo e atraso da linguagem. Os doentes podem apresentar perturbação do desenvolvimento intelectual moderada, comportamentos estereotipados, características autistas, nocicepção prejudicada, hipotonia e convulsões. Assimetria facial e ovários estriados também foram relatados em alguns casos."},"pl":{"name":"Otyłość, nadmierny apetyt i ciężkie opóźnienie rozwoju z powodu defektu genu TrkB","synonyms":["OBHD"],"definition":"Rzadka otyłość syndromiczna charakteryzująca się otyłością o wczesnym początku, hiperfagią i globalnym opóźnieniem rozwoju ze specyficznym upośledzeniem pamięci krótkotrwałej i opóźnieniem rozwoju mowy. Może wystąpić umiarkowana niepełnosprawność intelektualną, zachowania stereotypowe, cechy autystyczne, zaburzenia nocycepcji, hipotonia i drgawki. W kilku przypadkach zgłaszano także asymetrię twarzy i pasmowate jajniki."},"cs":{"name":"Obezita, hyperfagie a těžké vývojové opoždění s časným nástupem","synonyms":["OBHD"]},"uk":{"name":"Синдром раннього ожиріння-гіперфагії-тяжкої затримки розвитку","synonyms":["OBHD"],"definition":"A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases."}},"xrefs":[{"source":"OMIM","code":"613886","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"NTRK2","name":"neurotrophic receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"613886[PMID]","hgnc":"8032","ensembl":"ENSG00000148053","omim":"600456","loci":["9q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}