{"orpha":370921,"name":"STT3A-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Iw","CDG-Iw","CDG1W","Congenital disorder of glycosylation type 1w","Congenital disorder of glycosylation type Iw"],"definition":"STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370921/","orphanet_url":"https://www.orpha.net/en/disease/detail/370921","names":{"fr":{"name":"STT3A-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1w","Anomalie congénitale de la glycosylation type Iw","CDG-Iw","CDG1W","Syndrome des glycoprotéines déficientes en hydrates de carbone type Iw"],"definition":"Forme d'anomalies congénitales de la N-glycosylation caractérisées par un retard de développement, une déficience intellectuelle, un retard de croissance, une hypotonie et des crises convulsives. La STT3A-CDG est causée par des mutations du gène <i>STT3A</i> (11q23.3)."},"de":{"name":"STT3A-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Iw","CDG-Iw","CDG-Syndrom Typ Iw","CDG1W","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Iw","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iw"]},"es":{"name":"STT3A-CDG","synonyms":["CDG-Iw","CDG1W","Síndrome CDG tipo Iw","Trastorno congénito de la glicosilación tipo 1w","Trastorno congénito de la glicosilación tipo Iw"],"definition":"Es un tipo de trastorno congénito de la N- glicosilación caracterizado por retraso en el desarrollo, discapacidad intelectual, fallo de medro, hipotonía y convulsiones. Este trastorno está causado por mutaciones en el gen <i>STT3A</i> (11q23.3)."},"it":{"name":"STT3A-CDG","synonyms":["CDG-Iw","CDG1W","Disturbo congenito della glicosilazione, tipo Iw","Sindrome CDG, tipo Iw"],"definition":"La STT3A-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, ritardo della crescita, ipotonia e crisi epilettiche. La STT3A-CDG è causata dalle mutazioni del gene <i>STT3A</i> (11q23.3)."},"nl":{"name":"STT3A-CDG","synonyms":["CDG-Iw","CDG-syndroom type Iw","CDG1W","Congenitale defecten van de glycosylering type 1w","Congenitale defecten van de glycosylering type Iw","Congenitale glycosylatiestoornis type 1w","Congenitale glycosylatiestoornis type Iw"],"definition":"STT3A-CDG is een vorm van congenitale stoornis van N-glycosylatie die wordt gekarakteriseerd door ontwikkelingsachterstand, intellectuele achterstand, groeiachterstand, hypotonie en insulten. STT3A-CDG wordt veroorzaakt door mutaties in het gen <i>STT3A</i> (11q23.3)."},"pt":{"name":"STT3A-CDG","synonyms":["CDG-Iw","CDG1W","Doença congénita da glicosilação tipo Iw","Glicogenose tipo 1w","Síndrome CDG tipo Iw"]},"pl":{"name":"STT3A-CDG","synonyms":["CDG1W","CDG-Iw","Zespół CDG typu Iw","Wrodzone zaburzenie glikozylacji typu 1w","Wrodzone zaburzenie glikozylacji typu Iw"]},"cs":{"name":"STT3A-CDG","synonyms":["CDG syndrom, typ Iw","CDG-Iw","CDG1W","Vrozená porucha glykosylace typ Iw"]},"uk":{"name":"STT3A-CDG","synonyms":["Синдром CDG, тип Iw","CDG1W","CDG-Iw","Вроджене порушення глікозилювання типу 1w","Вроджене порушення глікозилювання типу Iw"],"definition":"STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene <i>STT3A</i> (11q23.3)."},"zh":{"name":"STT3A基因型先天性糖基化障碍","synonyms":["先天性糖基化障碍Iw型"],"definition":"先天性糖基化障碍1w型是一种N-连锁糖基化的先天性疾病，以发育迟缓、智力障碍、体重增长不良、肌张力低下和癫痫为特征。STT3A-CDG是由STT3A基因(11q23.3)突变引起的。"},"tr":{"name":"STT3A-CDG","synonyms":["CDG1W","CDG-Iw","CDG sendromu tip Iw","Doğumsal Tip 1w bozukluğu","Doğumsal glikozilasyon tip Iw doğumsal bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"615596","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":"0014270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"STT3A","name":"STT3 oligosaccharyltransferase complex catalytic subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23842455[PMID]","hgnc":"6172","ensembl":"ENSG00000134910","omim":"601134","loci":["11q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23842455[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23842455[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-08","source":"23842455[PMID]","terms":[{"hpo":"HP:0012345","label":"Abnormal glycosylation","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null}]}}