{"orpha":370943,"name":"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SLC35A3-CDG"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370943/","orphanet_url":"https://www.orpha.net/en/disease/detail/370943","names":{"fr":{"name":"Syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme","synonyms":["SLC35A3-CDG"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par une arthrogrypose distale (légères contractures en flexion des doigts, déviation des phalanges distales, déformation en col de cygne), une rétrognatie/micrognathie, une hypotonie musculaire générale, un retard de développement psychomoteur, des troubles du spectre de l'autisme (retard de parole, une prononciation anormale, difficultés à engager, comprendre et maintenir une interaction sociale, communication non verbale limitée et comportement répétitif), crises convulsives, microcéphalie et déficience intellectuelle légère à modérée devenant apparente avec l'âge."},"de":{"name":"Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom","synonyms":["SLC35A3-CDG"],"definition":"Eine seltene angeborene Störung der N-gebundenen Glykosylierung, die durch distale Arthrogryposis (leichte Beugekontrakturen der Finger, Abweichung der distalen Phalangen, Schwanenhals-Fehlbildung), Retromikrognathie, allgemeine Muskelhypotonie, verzögerte psychomotorische Entwicklung, Autismus-Spektrum-Störung (Sprachverzögerung, abnorme Sprachverwendung, Schwierigkeiten beim Initiieren, Verstehen und Aufrechterhalten sozialer Interaktion, eingeschränkte nonverbale Kommunikation und repetitives Verhalten), Krampfanfälle, Mikrozephalie und leichte bis mittelschwere Intelligenzminderung, die sich mit zunehmendem Alter bemerkbar macht."},"es":{"name":"Síndrome de trastorno del espectro autista-epilepsia-artrogriposis","synonyms":["SLC35A3-CDG"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por artrogriposis distal (leves contracturas en flexión de los dedos, desviación de las falanges distales, malformación en ''cuello de cisne''), retromicrognatia, hipotonía muscular general, retraso en el desarrollo psicomotor, trastornos del espectro autista (retraso en el habla, uso anómalo del habla, dificultades para iniciar, entender y mantener una interacción social, comunicación no verbal limitada y conductas repetitivas), convulsiones, microcefalia y discapacidad intelectual de leve a moderada y que se hace evidente con la edad."},"it":{"name":"Sindrome disturbo dello spettro autistico-epilessia-artrogriposi","synonyms":["SLC35A3-CDG"],"definition":"La SLC35A3-CDG è una malattia congenita della N-glicosilazione, caratterizzata da artrogriposi distale (lievi contratture delle dita durante la flessione, deviazione delle falangi distali, deformità a collo di cigno), retro-micrognazia, ipotonia muscolare generalizzata, ritardo dello sviluppo psicomotorio, disturbo dello spettro autistico (ritardo del linguaggio, uso anomalo del linguaggio, difficoltà nell'avviare, comprendere e mantenere l'interazione sociale, limitata comunicazione non verbale e comportamenti ripetitivi), crisi epilettiche, microcefalia e disabilità intellettiva lieve o moderata che si manifesta con il passare degli anni. La malattia è causata da alcune mutazioni nel gene SLC35A3 (1p21)."},"nl":{"name":"Autismespectrumstoornis - epilepsie - artrogrypose-syndroom","synonyms":["SLC35A3-CDG"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekenmerkt door distale artrogrypose (milde flexiecontracturen van vingers, deviatie/scheefstand van distale falangen, zwanenhalsmisvorming), retromicrognathie, algemene spierhypotonie, psychomotorische ontwikkelingsachterstand, autismespectrumstoornis (spraakachterstand, abnormaal spraakgebruik, moeilijkheden met initiëren, begrijpen en onderhouden van sociale interactie, beperkte niet-verbale communicatie en repetitief gedrag), insulten, microcefalie en milde tot matige intellectuele achterstand die merkbaar wordt met ouder worden."},"pt":{"name":"Síndrome de espectro clínico de autismo-epilepsia-artrogripose"},"pl":{"name":"Zespół zaburzenia ze spektrum autyzmu-padaczka-artrogrypoza","synonyms":["SLC35A3-CDG"]},"cs":{"name":"Syndrom zahrnující poruchu autistického spektra, epilepsii a artrogrypózu","synonyms":["SLC35A3-CDG"]},"uk":{"name":"Синдром розладу аутистичного спектру-епілепсїя-артрогрипозу","synonyms":["SLC35A3-CDG"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age."},"zh":{"name":"自闭症谱系障碍-癫痫-关节病综合征","synonyms":["SLC35A3-CDG"],"definition":"先天性糖基化障碍SLC35A3基因型是一种先天性N-连锁糖基化障碍，其特征包括远端关节畸形(手指轻度屈曲挛缩、远端指骨偏斜、天鹅颈畸形)、下颌后缩/小颌畸形、全身肌张力减退、精神运动发育迟缓、自闭症谱系障碍(言语迟缓、言语使用异常、对话发起困难、理解和维持社会关系困难、非语言交流受限和重复行为)、癫痫、小头畸形和随年龄增长逐渐明显的轻至中度智力障碍。本病是由基因SLC35A3（1p21)突变引起的。"},"tr":{"name":"Otizm spektrum bozukluğu-epilepsi-artrogripoz sendromu","synonyms":["SLC35A3-CDG"]}},"xrefs":[{"source":"OMIM","code":"615553","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014248","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518080","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"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]}],"children":[],"genes":[{"symbol":"SLC35A3","name":"solute carrier family 35 member A3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24031089[PMID]","hgnc":"11023","ensembl":"ENSG00000117620","omim":"605632","loci":["1p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"24031089[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24031089[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-29","source":"24031089[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004976","label":"Knee dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}