{"orpha":263508,"name":"COG1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIg","CDG-IIg","CDG2G","Carbohydrate deficient glycoprotein syndrome type IIg","Congenital disorder of glycosylation type 2g","Congenital disorder of glycosylation type IIg"],"definition":"COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263508/","orphanet_url":"https://www.orpha.net/en/disease/detail/263508","names":{"fr":{"name":"COG1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2g","Anomalie congénitale de la glycosylation type IIg","CDG-IIg","CDG2G","Syndrome CDG type IIg","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIg"],"definition":"COG1-CDG, une forme extrêmement rare de l'anomalie congénitale de la glycosylation est caractérisée dans les quelques cas rapportés jusqu'à présent par des manifestations variables incluant une microcéphalie, un retard de croissance, un retard psychomoteur et une dysmorphie faciale."},"de":{"name":"COG1-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ IIg","CDG-IIg","CDG-Syndrom Typ IIg","CDG2G","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIg","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIg"],"definition":"Die Kongenitale Störung der Gykosylierung Typ IIg (CDG-IIg) ist eine extrem seltene Form des CDG-Syndroms (s. dort) und war bei den wenigen beschriebenen Fällen klinisch gekennzeichnet durch unterschiedliche Symptome, darunter Mikrozephalie, retardiertes Wachstum, psychomotorische Retardierung und unterschiedliche faziale Dysmorphien."},"es":{"name":"COG1-CDG","synonyms":["CDG-IIg","CDG2G","Síndrome CDG tipo IIg","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIg","Trastorno congénito de la glicosilación tipo 2g","Trastorno congénito de la glicosilación tipo IIg"],"definition":"El trastorno congénito de la glicosilación tipo IIg (CDG-IIg) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en los pocos casos registrados hasta la fecha, se caracteriza por signos clínicos variables que incluyen microcefalia, retraso en el crecimiento, retraso psicomotor, y dismorfismo facial variable."},"it":{"name":"COG1-CDG","synonyms":["CDG-IIg","CDG2G","Disturbo congenito della glicosilazione, tipo IIg","Sindrome CDG, tipo IIg","Sindrome delle glicoproteine carenti in carboidrati, tipo IIg"],"definition":"Il difetto congenito della glicosilazione tipo IIg (CDG-IIg) è una forma molto rara della sindrome CDG (si veda questo termine) caratterizzata, nei pochi pazienti descritti, da quadri clinici variabili che comprendono la microcefalia, il ritardo della crescita, il ritardo psicomotorio e i dismorfismi facciali."},"nl":{"name":"COG1-CDG","synonyms":["CDG-IIg","CDG-syndroom type IIg","CDG2G","Congenitale defecten van de glycosylering type 2g","Congenitale defecten van de glycosylering type IIg","Congenitale glycosylatiestoornis type 2g","Congenitale glycosylatiestoornis type IIg","Koolhydraatdeficiënt glycoproteïne syndroom type IIg"],"definition":"Een uiterst zeldzame vorm van CDG-syndroom, klinisch gekenmerkt, in de enkele gevallen die tot op heden gerapporteerd werden, door variabele verschijnselen waaronder microcefalie, groeiretardatie, psychomotorische achterstand, en faciale dysmorfie."},"pt":{"name":"Síndrome CDG, tipo IIg"},"pl":{"name":"COG1-CDG","synonyms":["CDG2G","CDG-IIg","Zespół CDG typu IIg","Wrodzone zaburzenie glikozylacji typu 2g","Wrodzone zaburzenie glikozylacji typu IIg","Zespół obniżonej glikozylacji glikoprotein typu IIg"]},"cs":{"name":"COG1-CDG","synonyms":["CDG syndrom, typ IIg","CDG-IIg","CDG2G","Vrozená porucha glykosylace, typ IIg"]},"uk":{"name":"COG1-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIg","Синдром CDG типу IIg","CDG2G","CDG-IIg","Вроджене порушення глікозилювання типу 2g","Вроджене порушення глікозилювання типу IIg"],"definition":"COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism."},"zh":{"name":"COG1基因型先天性糖基化障碍","synonyms":["糖基化缺陷糖蛋白综合征IIg型"],"definition":"COG1-先天性糖基化障碍是一种极其罕见的CDG综合征(见该词条)，其临床特征仅见于迄今报道的少数病例，包括小头畸形、生长迟缓、精神运动迟缓和面部畸形。"},"tr":{"name":"COG1-CDG","synonyms":["CDG2G","CDG-IIg","CDG sendromu tip IIg","Doğumsal glikozilasyon bozukluğu tip 2g","Doğumsal glikozilasyon bozukluğu tip IIg","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIg"]}},"xrefs":[{"source":"OMIM","code":"611209","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012637","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931011","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10226","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309568,"name":"Defect in conserved oligomeric Golgi complex","classifications":[150,156]},{"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]}],"children":[],"genes":[{"symbol":"COG1","name":"component of oligomeric golgi complex 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"6545","ensembl":"ENSG00000166685","omim":"606973","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16537452[PMID]_19008299[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16537452[PMID]_19008299[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-18","source":"20301507[PMID]_19008299[PMID]_16537452[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011995","label":"Atrial septal dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004582","label":"Irregularity of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030282","label":"Posterior rib gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012301","label":"Type II transferrin isoform profile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007112","label":"Temporal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}