{"orpha":300536,"name":"DDOST-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ir","CDG-Ir","CDG1R","Carbohydrate deficient glycoprotein syndrome type Ir","Congenital disorder of glycosylation type 1r","Congenital disorder of glycosylation type Ir"],"definition":"DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene <i> DDOST </i> (1p36.1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300536/","orphanet_url":"https://www.orpha.net/en/disease/detail/300536","names":{"fr":{"name":"DDOST-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1r","Anomalie congénitale de la glycosylation type Ir","CDG-Ir","CDG1R","Syndrome CDG type Ir","Syndrome des glycoprotéines déficientes en hydrates de carbone type IR"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par un retard de croissance, un retard du développement, une hypotonie, un strabisme et une insuffisance hépatique. La maladie est causée par des mutations du gène <i>DDOST</i> (1p36.1)."},"de":{"name":"DDOST-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 1r","CDG-Ir","CDG-Syndrom Typ Ir","CDG1R","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ir","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ir"]},"es":{"name":"DDOST-CDG","synonyms":["CDG-Ir","CDG1R","Síndrome CDG tipo Ir","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ir","Trastorno congénito de la glicosilación tipo 1R","Trastorno congénito de la glicosilación tipo IR"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por fallo de medro, retraso en el desarrollo, hipotonía, estrabismo y disfunción hepática. Esta enfermedad está causada por mutaciones en el gen <i>DDOST</i> (1p36.1)."},"it":{"name":"DDOST-CDG","synonyms":["CDG-Ir","CDG1R","Disturbo congenito della glicosilazione, tipo 1r","Disturbo congenito della glicosilazione, tipo Ir","Sindrome CDG, tipo Ir","Sindrome delle glicoproteine carenti in carboidrati, tipo Ir"],"definition":"La DDOST-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ritardo della crescita e dello sviluppo, ipotonia, strabismo e disfunzione epatica. La malattia è causata dalle mutazioni nel gene DDOST (1p36.1)."},"nl":{"name":"DDOST-CDG","synonyms":["CDG-Ir","CDG-syndroom type Ir","CDG1R","Congenitale defecten van de glycosylering type Ir","Congenitale glycosylatiestoornis type 1r","Congenitale glycosylatiestoornis type Ir","Koolhydraatdeficiënt glycoproteïne syndroom type Ir"],"definition":"DDOST-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door groei- en ontwikkelingsachterstand, hypotonie, strabisme en leverdisfunctie. De ziekte wordt veroorzaakt door mutaties in het gen <i>DDOST</i> (1p36.1)."},"pt":{"name":"SíndromeCDG, tipo IR"},"pl":{"name":"DDOST-CDG","synonyms":["CDG1R","CDG-Ir","Wrodzone zaburzenie glikozylacji typu 1r","Wrodzone zaburzenie glikozylacji typu Ir","Zespół CDG typu Ir","Zespół obniżonej glikozylacji glikoprotein typu Ir"]},"cs":{"name":"Vrozená porucha glykosylace, typ 1r","synonyms":["CDG syndrom, typ Ir","CDG-Ir","CDG1R","Syndrom deficitu karbohydrátového glykoproteinu, typ Ir","DDOST-CDG","Vrozená porucha glykosylace, typ Ir"]},"uk":{"name":"DDOST-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Ir","Синдром CDG, тип Ir","CDG1R","CDG-Ir","Вроджене порушення глікозилювання типу 1r","Вроджене порушення глікозилювання типу Ir"],"definition":"DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene <i> DDOST </i> (1p36.1)."},"zh":{"name":"DDOST-先天性糖基化障碍","synonyms":["碳水化合物缺乏型糖蛋白综合症Ir型"],"definition":"DDOST基因型先天性糖基化障碍是一种先天性N-连接糖基化病，其特征是生长发育不良、发育迟缓、肌张力低下、斜视和肝功能不全。该病是由 DDOST (1p36.1)基因突变引起。"},"tr":{"name":"DDOST-CDG","synonyms":["CDG1R","CDG-Ir","CDG sendromu tip Ir","Doğumsal glikozilasyon bozukluğu tip 1r","Doğumsal glikozilasyon bozukluğu tip Ir","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ir"]}},"xrefs":[{"source":"OMIM","code":"614507","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,"icd11_uri":"null"},{"source":"MONDO","code":"0013789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12398","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","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":"DDOST","name":"dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22305527[PMID]","hgnc":"2728","ensembl":"ENSG00000244038","omim":"602202","loci":["1p36.12"]}],"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":"22305527[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22305527[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-16","source":"19765534[PMID]_22305527[PMID]_17584079[PMID]_23730680[PMID]_28726068[PMID]_25192513[PMID]_24555185[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007301","label":"Oromotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410018","label":"Recurrent ear infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012593","label":"Nephrotic range proteinuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000832","label":"Primary hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null}]}}