{"orpha":263501,"name":"COG4-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIj","CDG-IIj","CDG2J","Carbohydrate deficient glycoprotein syndrome type IIj","Congenital disorder of glycosylation type 2j","Congenital disorder of glycosylation type IIj"],"definition":"COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263501/","orphanet_url":"https://www.orpha.net/en/disease/detail/263501","names":{"fr":{"name":"COG4-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2j","Anomalie congénitale de la glycosylation type IIj","CDG-IIj","CDG2J","Syndrome CDG type IIj","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIj"],"definition":"COG4-CDG, une forme extrêmement rare de l'anomalie congénitale de la glycosylation est caractérisée dans l'unique cas rapporté jusqu'à présent par des convulsions, des caractéristiques dysmorphiques, une hypotonie axiale, une hypertonie périphérique légère et une hyperréflexie."},"de":{"name":"COG4-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ Iij","CDG-IIj","CDG-Syndrom Typ IIj","CDG2J","Kohlenhydrat-defizientes Glykoprotein-Syndrom Iij","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIj"],"definition":"Die Kongenitale Störung der Gykosylierung Typ IIj (CDG-IIj) ist eine extrem seltene Form des CDG-Syndroms (s. dort) und bei dem einzigen bisher beschriebenen Fall klinisch gekennzeichnet durch Krämpfe, einige Dysmorphien, axiale Hypotonie, leichte periphere Hypertonie und Hyperreflexie."},"es":{"name":"COG4-CDG","synonyms":["CDG-IIj","CDG2J","Síndrome CDG tipo IIj","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIj","Trastorno congénito de la glicosilación tipo 2j","Trastorno congénito de la glicosilación tipo IIj"],"definition":"El trastorno congénito de la glicosilación tipo IIj (CDG-IIj) es una forma extremadamente poco frecuente del síndrome CDG (consulte este término) que, en el único caso registrado hasta la fecha, se caracteriza clínicamente por convulsiones, algunos rasgos dismórficos, hipotonía axial, hipertonía periférica leve e hiperreflexia."},"it":{"name":"COG4-CDG","synonyms":["CDG-IIj","CDG2J","Disturbo congenito della glicosilazione, tipo IIj","Sindrome CDG, tipo IIj","Sindrome delle glicoproteine carenti in carboidrati, tipo IIj"],"definition":"Il difetto congenito della glicosilazione tipo IIj (CDG-IIj) è una forma molto rara della sindrome CDG (si veda questo termine) caratterizzata, nell'unico paziente descritto, da dismorfismi, ipotonia assiale, lieve ipertonia periferica e iperreflessia."},"nl":{"name":"COG4-CDG","synonyms":["Congenitale glycosylatiestoornis type IIj","Koolhydraatdeficiënt glycoproteïne syndroom type IIj","CDG-IIj","CDG-syndroom type IIj","CDG2J","Congenitale defecten van de glycosylering type 2j","Congenitale defecten van de glycosylering type IIj","Congenitale glycosylatiestoornis type 2j"],"definition":"Een uiterst zeldzame vorm van CDG-syndroom, klinisch gekenmerkt, bij het enige geval dat tot op heden gerapporteerd werd, door insulten, enkele dysmorfe kenmerken, axiale hypotonie, lichte perifere hypertonie, en hyperreflexie."},"pt":{"name":"SíndromeCDG, tipo IIj"},"pl":{"name":"COG4-CDG","synonyms":["CDG2J","CDG-IIj","Zespół CDG typu IIj","Wrodzone zaburzenie glikozylacji typu 2j","Wrodzone zaburzenie glikozylacji typu IIj","Zespół obniżonej glikozylacji glikoprotein typu IIj"]},"cs":{"name":"COG4-CDG","synonyms":["CDG syndrom, typ IIj","CDG IIj","CDG2J","Vrozená porucha glykosylace, typ IIj"]},"uk":{"name":"COG4-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIj","Синдром CDG, тип IIj","CDG2J","CDG-IIj","Вроджене порушення глікозилювання типу 2j","Вроджене порушення глікозилювання типу IIj"],"definition":"COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia."},"zh":{"name":"COG4基因型先天性糖基化障碍","synonyms":["糖基化缺陷糖蛋白综合征IIj型"],"definition":"COG4-先天性糖基化障碍是一种极其罕见的CDG综合征(见该词条)，在迄今报道的单一病例中，临床特征为癫痫发作、某些畸形特征、轴性低血压、外周轻度肌张力和反射亢进。"},"tr":{"name":"COG4-CDG","synonyms":["CDG2J","CDG-IIj","CDG sendromu tip IIj","Doğumsal glikozilasyon bozukluğu tip 2j","Doğumsal glikozilasyon bozukluğu tip IIj","Karbonhidrat eksikliği olan glikoprotein sendromu tip Iıj"]}},"xrefs":[{"source":"OMIM","code":"613489","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":"index","validated":true,"icd11_uri":"2078860328"},{"source":"MONDO","code":"0013281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303552","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":309568,"name":"Defect in conserved oligomeric Golgi complex","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COG4","name":"component of oligomeric golgi complex 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"18620","ensembl":"ENSG00000103051","omim":"606976","loci":["16q22.1"]}],"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":"22516080[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-22","source":"19494034[PMID]_21185756[PMID]_16356446[PMID]","terms":[{"hpo":"HP:0012347","label":"Abnormal protein N-linked glycosylation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012358","label":"Abnormal protein O-linked glycosylation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011172","label":"Complex febrile seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012301","label":"Type II transferrin isoform profile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006583","label":"Fatal liver failure in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null}]}}