{"orpha":352490,"name":"Autism spectrum disorder due to AUTS2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ASD due to AUTS2 deficiency","AUTS2 syndrome"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352490/","orphanet_url":"https://www.orpha.net/en/disease/detail/352490","names":{"fr":{"name":"Trouble du spectre de l'autisme par déficit en AUTS2","synonyms":["Syndrome AUTS2"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard global de développement et une déficience intellectuelle limite à sévère, un trouble du spectre de l'autisme avec un comportement obsessionnel, des stéréotypies, une hyperactivité mais une personnalité souvent amicale et affable, des difficultés à s'alimenter, une petite taille, une hypotonie musculaire, une microcéphalie, une dysmorphie caractéristique (hypertélorisme, arcades sourcilières arquées, ptosis, pont nasal profond et/ou large, pointe nasale large/proéminente, philtrum court et/ou retroussé, bouche étroite et micrognathie) et des anomalies squelettiques (cyphose et/ou scoliose, arthrogrypose, habitus et extrémités minces). D'autres caractéristiques cliniques peuvent inclure des hernies, des malformations cardiaques congénitales, une cryptorchidie et des crises d'épilepsie."},"de":{"name":"Autismus-Spektrum-Störung durch AUTS-Mangel","synonyms":["ASD durch AUTS2-Mangel","AUTS2-Syndrom"],"definition":"Eine seltene, genetisch bedingte syndromale Störung der intellektuellen Entwicklung, gekennzeichnet durch globale Entwicklungsverzögerung und grenzwertige bis schwere Intelligenzminderung, Autismus-Spektrum-Störung mit zwanghaftem Verhalten, Stereotypien, Hyperaktivität, aber häufig freundlicher und umgänglicher Persönlichkeit, Schwierigkeiten bei der Nahrungsaufnahme, Kleinwuchs, Muskelhypotonie, Mikrozephalie, charakteristische dysmorphe Merkmale (Hypertelorismus, hochgewölbte Augenbrauen, Ptosis, tiefer und/oder breiter Nasenrücken, breite/vorstehende Nasenspitze, kurzes und/oder nach oben gebogenes Philtrum, schmaler Mund und Mikrognathie) und Skelettanomalien (Kyphose und/oder Skoliose, Arthrogrypose, schlanker Habitus und Extremitäten). Weitere klinische Merkmale können Hernien, angeborene Herzfehler, Kryptorchismus und Krampfanfälle sein."},"es":{"name":"Trastorno del espectro autista por deficiencia en AUTS2","synonyms":["Síndrome AUTS2","TEA por deficiencia de AUTS2"],"definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente caracterizada por retraso global del desarrollo y discapacidad intelectual de límite a grave, trastorno del espectro autista con comportamiento obsesivo, estereotipias, hiperactividad pero con personalidad frecuentemente amistosa y afable, dificultades para alimentarse, talla baja, hipotonía muscular, microcefalia, rasgos dismórficos característicos (hipertelorismo, cejas de arco alto, ptosis, puente nasal ancho y/o deprimido, punta nasal ancha/prominente, surco nasolabial corto y/o hacia arriba, boca estrecha y micrognatia), así como anomalías esqueléticas (cifosis y/o escoliosis, artrogriposis, hábito y extremidades delgados). Otras características clínicas pueden incluir hernias, defectos cardíacos congénitos, criptorquidia y crisis epilépticas."},"it":{"name":"Disturbo dello spettro dell'autismo da deficit di AUTS2","synonyms":["ASD da deficit di AUTS2","Sindrome AUTS2"],"definition":"Il disturbo dello spettro autistico da deficit di AUTS2 è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva da borderline a grave, disturbo dello spettro autistico con comportamenti ossessivi, stereotipie ed iperattività, ma con personalità spesso amichevole e socievole, difficoltà di alimentazione, bassa statura, ipotonia muscolare, microcefalia, dismorfismi caratteristici (ipertelorismo, sopracciglia arcuate, ptosi, sella nasale infossata e/o ampia, punta del naso tozza/prominente, filtro corto e/o rivolto verso l'alto, bocca stretta e micrognazia) ed anomalie scheletriche (cifosi e/o scoliosi, artrogriposi, habitus ed arti esili). I pazienti possono presentare ernie, cardiopatie congenite, criptorchidismo e crisi epilettiche."},"nl":{"name":"Autismespectrumstoornis door AUTS2-deficiëntie","synonyms":["ASD als gevolg van AUTS2-deficiëntie","AUTS2-syndroom"],"definition":"Een zeldzame, genetische, syndromale intellectuele achterstand, gekarakteriseerd door algehele ontwikkelingsachterstand en marginale tot ernstige intellectuele achterstand, autismespectrumstoornis met obsessief gedrag, stereotypieën, hyperactiviteit maar dikwijls vriendelijke en aardige persoonlijkheid, voedingsproblemen, kleine gestalte, musculaire hypotonie, microcefalie, typische dysmorfe kenmerken (hypertelorisme, hoog gebogen wenkbrauwen, ptose, diepe en/of brede neusbrug, brede/prominente neuspunt, kort en/of omgekeerd filtrum, smalle mond, en micrognathie), en skeletanomalieën (kyfose en/of scoliose, artrogrypose, slanke habitus en ledematen). Andere mogelijke klinische kenmerken zijn hernia's, congenitale hartdefecten, cryptorchidie en insulten."},"pt":{"name":"Doença do espectro do autismo por défice de AUTS2"},"pl":{"name":"Zaburzenie ze spektrum autyzmu z powodu niedoboru AUTS2","synonyms":["ASD z powodu niedoboru AUTS2","Zespół AUTS2"],"definition":"*Zaburzenie ze spektrum autyzmu z powodu niedoboru AUTS2 jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się całościowym opóźnieniem rozwoju i niepełnosprawnością intelektualną od stopnia granicznego (borderline) do znacznego, zaburzeniami ze spektrum autyzmu z obsesyjnymi zachowaniami, stereotypiami, nadpobudliwością, ale często przyjazną i uprzejmą osobowością, trudnościami w odżywianiu, niskim wzrostem, obniżeniem napięcia mięśniowego, małogłowiem, charakterystycznymi cechami dysmorfii (hiperteloryzm, łukowate brwi, opadanie powiek, zapadnięty i/lub szeroki grzbiet nosa, szeroki/wydatny czubek nosa, krótka i/lub uniesiona rynienka wargowa, wąskie usta, i mikrognacja) oraz nieprawidłowościami układu kostnego (kyfoza i/lub skolioza, artrogrypoza, smukła sylwetka oraz kończyny). Mogą ponadto występować przepukliny, wrodzone wady serca, wnętrostwo oraz drgawki."},"cs":{"name":"Porucha autistického spektra způsobená deficitem AUTS2","synonyms":["AUTS2 syndrom","ASD způsobená deficitem AUTS2"]},"uk":{"name":"Розлад аутистичного спектру, зумовлений дефіцитом AUTS2","synonyms":["РАС через дефіцит AUTS2","Синдром AUTS2"],"definition":"A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures."},"zh":{"name":"AUTS2基因缺陷所致自闭症谱系障碍","synonyms":["AUTS2基因缺陷所致ASD"],"definition":"一种罕见的遗传综合征性智力障碍，其特征是整体发育迟缓，边缘至严重智力障碍，自闭症谱系障碍伴强迫行为，刻板印象，多动但性格通常友好和蔼，进食困难，身材矮小，肌肉张力减退，小头畸形，特征性畸形（眼距过宽、高弓眉、上睑下垂、鼻梁深和/或宽、鼻尖宽/突出、人中短和/或上翘、窄嘴和小颌畸形）和骨骼异常（脊柱后凸和/或侧凸、关节挛缩、体态和四肢细长）。其他临床特征可能包括疝气，先天性心脏病，隐睾症和癫痫发作。"},"tr":{"name":"AUTS2 eksikliğine bağlı otizm spektrum bozukluğu","synonyms":["AUTS2 sendromu","AUTS2 eksikliğine bağlı ASD"]}},"xrefs":[{"source":"OMIM","code":"615834","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AUTS2","name":"activator of transcription and developmental regulator AUTS2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23332918[PMID]","hgnc":"14262","ensembl":"ENSG00000158321","omim":"607270","loci":["7q11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"23332918[PMID]_27075013[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23332918[PMID]_27075013[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-21","source":"23332918[PMID]_27075013[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008762","label":"Repetitive compulsive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025112","label":"Sound sensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006184","label":"Decreased palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009183","label":"Joint contracture of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004283","label":"Narrow palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100277","label":"Periauricular skin pits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}