{"orpha":356996,"name":"ANK3-related intellectual disability-sleep disturbance syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-356996/","orphanet_url":"https://www.orpha.net/en/disease/detail/356996","names":{"fr":{"name":"Syndrome de déficience intellectuelle-troubles du sommeil associé à ANK3","definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle de degré variable, des troubles du comportement (trouble déficitaire de l'attention/hyperactivité, trouble du spectre de l'autisme et agressivité), une altération du cycle de sommeil et un retard de parole et de langage, associés à une altération de l'ankyrine-3 (gène <i>ANK3</i>). Les autres caractéristiques observées peuvent inclure une hypotonie et une spasticité musculaires. Des cas d'épilepsie, de faim chronique et de dysmorphie faciale ont été rapportés."},"de":{"name":"ANK3-assoziierte Intelligenzminderung-Sprachstörung-Schlafstörung-Syndrom","definition":"Eine seltene, genetisch bedingte, syndromale Form der Intelligenzminderung, die durch unterschiedliche Grade der intellektuellen Beeinträchtigung, Verhaltensprobleme (einschließlich Aufmerksamkeitsdefizit- und Hyperaktivitätsstörung, Autismus-Spektrum-Störung und Aggressivität), ein verändertes Schlafverhalten und eine verzögerte Sprachentwicklung gekennzeichnet ist und mit einer Störung des Ankryin-3-Gens (<i>ANK3</i>) einhergeht. Weitere beobachtete Merkmale können Muskelhypotonie und Spastizität sein. Auch Epilepsie, chronischer Hunger und dysmorphe Gesichtszüge wurden berichtet."},"es":{"name":"Síndrome de discapacidad intelectual-trastorno del sueño asociado al gen ANK3","definition":"Es un trastorno sindrómico de discapacidad intelectual, genético y poco frecuente, caracterizado por un grado variable de discapacidad intelectual, trastornos de conducta (tales como trastorno por déficit de atención e hiperactividad, trastorno del espectro autista y agresividad), un patrón de sueño alterado y retraso en el desarrollo del habla y el lenguaje. Se asocia a una alteración de anquirina-3 (gen <i>ANK3</i>). Hallazgos adicionales observados pueden incluir hipotonía muscular y espasticidad. También se ha descrito epilepsia, hambre crónica y rasgos faciales dismórficos."},"it":{"name":"Sindrome da disabilità intellettiva e disturbi del sonno correlata ad ANK3","definition":"È una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da disabilità intellettiva di grado variabile, problemi comportamentali (deficit dell'attenzione con iperattività, disturbo dello spettro autistico e aggressività), disturbi del sonno e ritardo dello sviluppo del linguaggio, da alterazione dell'anchirina 3 (<i>gene ANK3</i>). Può associarsi ad ipotonia e spasticità muscolare, epilessia, fame cronica e dismorfismi facciali."},"nl":{"name":"ANK3-gerelateerd intellectuele achterstand - slaapstoornis-syndroom","definition":"Een zeldzame, genetische, syndromale intellectuele beperking die gekarakteriseerd wordt door variabele gradaties van intellectuele achterstand, gedragsproblemen (waaronder aandachtstekortstoornis met hyperactiviteit, autismespectrumstoornis, en agressiviteit), een gewijzigd slaappatroon, en vertraagde spraak- en taalontwikkeling, geassocieerd met ontregeling van ankyrine-3 (<i>ANK3</i> gen). Mogelijke bijkomende kenmerken die kunnen waargenomen worden zijn onder meer musculaire hypotonie en spasticiteit. Epilepsie, chronische honger, en dysmorfe gelaatskenmerken werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-patologia do sono ANK3-relacionada"},"pl":{"name":"Zespół niepełnosprawności intelektualnej i zaburzeń snu związany z ANK3"},"cs":{"name":"Syndrom zahrnující mentální retardaci, hypotonii, spasticitu a poruchy spánku"},"uk":{"name":"ANK3-асоційований синдром інтелектуальної недостатності та порушення сну","definition":"A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported."},"zh":{"name":"ANK3基因相关智力障碍-睡眠障碍综合征","definition":"本病是一种罕见的遗传性综合征候性智力障碍，其特征是不同程度智力障碍、行为问题(包括注意力缺陷和多动障碍、自闭症谱系障碍和攻击性)、睡眠模式改变，以及与ankryin-3(ANK3基因)中断相关的言语和语言发育延迟。观察到的其他特征包括肌张力低下和痉挛。癫痫、慢性饥饿和面部畸形也已被报道。"},"tr":{"name":"ANK3-ilişkili zihinsel yetersizlik-uyku bozukluğu sendromu"}},"xrefs":[{"source":"OMIM","code":"615493","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014210","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ANK3","name":"ankyrin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23390136[PMID]","hgnc":"494","ensembl":"ENSG00000151150","omim":"600465","loci":["10q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23390136[PMID]_28687526[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23390136[PMID]_28687526[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-29","source":"28687526[PMID]_23390136[PMID]","terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}