{"orpha":370924,"name":"STT3B-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ix","CDG-Ix","CDG1X","Carbohydrate deficient glycoprotein syndrome type Ix","Congenital disorder of glycosylation type 1x","Congenital disorder of glycosylation type Ix"],"definition":"STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene <i>STT3B</i> (3p24.1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370924/","orphanet_url":"https://www.orpha.net/en/disease/detail/370924","names":{"fr":{"name":"STT3B-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1x","Anomalie congénitale de la glycosylation type Ix","CDG-Ix","CDG1X","Syndrome CDG type Ix","Syndrome des glycoprotéines déficientes en hydrates de carbone type Ix"],"definition":"Forme d'anomalies congénitales de la N-glycosylation caractérisées par un retard de croissance intra-utérin, une microcéphalie, un retard de croissance, un retard de développement, une déficience intellectuelle, une hypotonie, des crises convulsives, une atrophie du nerf optique et des difficultés à respirer. Des anomalies génitales (micropénis, hypoplasie du scrotum, cryptorchidie) ont également été rapportées. La STT3B-CDG est causée par des mutations du gène <i>STT3B</i> (3p24.1)."},"de":{"name":"STT3B-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 1x","CDG-Ix","CDG-Syndrom Typ Ix","CDG1X","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ix","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ix"]},"es":{"name":"STT3B-CDG","synonyms":["CDG-Ix","CDG1X","Síndrome CDG tipo Ix","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ix","Trastorno congénito de la glicosilación tipo 1x","Trastorno congénito de la glicosilación tipo Ix"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por retraso en el crecimiento intrauterino, microcefalia, fallo de medro, retraso en el desarrollo, discapacidad intelectual, hipotonía, convulsiones, atrofia del nervio óptico y dificultades respiratorias. También se han descrito anomalías genitales (micropene, hipoplasia escrotal, testículos no descendidos). Este trastorno está causado por mutaciones en el gen <i>STT3B</i> (3p24.1)."},"it":{"name":"STT3B-CDG","synonyms":["CDG-Ix","CDG1X","Disturbo congenito della glicosilazione, tipo 1x","Disturbo congenito della glicosilazione, tipo Ix","Sindrome CDG, tipo Ix","Sindrome delle glicoproteine carenti in carboidrati, tipo Ix"],"definition":"La STT3B-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ritardo della crescita intrauterina, microcefalia, ritardo della crescita postnatale e dello sviluppo, disabilità intellettiva, ipotonia, crisi epilettiche, atrofia del nervo ottico e difficoltà respiratorie. Possono associarsi anomalie dei genitali (micropene, ipoplasia dello scroto e criptorchidismo). La STT3B-CDG è causata da alcune mutazioni nel gene <i>STT3B</i> (3p24.1)."},"nl":{"name":"STT3B-CDG","synonyms":["CDG-Ix","CDG-syndroom type Ix","CDG1X","Congenitale defecten van de glycosylering type 1x","Congenitale defecten van de glycosylering type Ix","Congenitale glycosylatiestoornis type 1x","Congenitale glycosylatiestoornis type Ix","Koolhydraatdeficiënt glycoproteïne-syndroom type Ix"],"definition":"STT3B-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door intra-uteriene groeiretardatie, microcefalie, groeiachterstand, ontwikkelingsachterstand, intellectuele achterstand, hypotonie, insulten, atrofie van de oogzenuw en ademhalingsmoeilijkheden. Genitale anomalieën (micropenis, hypoplastisch scrotum, niet-ingedaalde testes) werden ook reeds gerapporteerd. STT3B-CDG wordt veroorzaakt door mutaties in het gen <i>STT3B</i> (3p24.1)."},"pt":{"name":"Glicogenose tipo Ix","synonyms":["CDG-Ix","Doença congénita da glicosilação tipo Ix","STT3B-CDG","Síndrome CDG tipo Ix","Síndrome de glicoproteína deficiente em carbohidratos tipo Ix"]},"pl":{"name":"STT3B-CDG","synonyms":["Carbohydrate deficient glycoprotein syndrome type Ix","CDG1X","CDG-Ix","Wrodzone zaburzenie glikozylacji typu 1x","Wrodzone zaburzenie glikozylacji typu Ix","Zespół CDG typu Ix"]},"cs":{"name":"STT3B-CDG","synonyms":["CDG syndrom, typ Ix","CDG-Ix","CDG1X","Carbohydrate deficient glycoprotein syndrom type Ix","Vrozená porucha glykosylace, typ 1x","Vrozená porucha glykosylace, typ Ix","Glykoproteinový syndrom deficitu sacharidů typu Ix"]},"uk":{"name":"STT3B-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ix","Синдром CDG, тип Ix","CDG1X","CDG-Ix","Вроджене порушення глікозилювання типу 1х","Вроджене порушення глікозилювання типу Ix"],"definition":"STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene <i>STT3B</i> (3p24.1)."},"zh":{"name":"STT3B基因型先天性糖基化障碍","synonyms":["缺糖基糖蛋白综合征Ix型"],"definition":"先天性糖基化障碍1x型是一种N连锁糖基化的先天性疾病，以胎儿宫内发育迟缓、小头畸形、体重增长不良、智力障碍、肌张力减退、癫痫发作、视神经萎缩和呼吸困难为特征。生殖器异常(小阴茎、阴囊发育不良、隐睾)在本病中也有报道。STT3B-CDG是由STT3B基因(3p24.1)突变引起的。"},"tr":{"name":"STT3B-CDG","synonyms":["CDG1X","CDG-Ix","CDG sendromu tip Ix","Tip 1'in doğumsal bozukluğu","Doğumsal glikozilasyon tipi Ix bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ix"]}},"xrefs":[{"source":"OMIM","code":"615597","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":"0014271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931007","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":"STT3B","name":"STT3 oligosaccharyltransferase complex catalytic subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23842455[PMID]","hgnc":"30611","ensembl":"ENSG00000163527","omim":"608605","loci":["3p23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"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:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null}]}}