{"orpha":95428,"name":"COG8-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIh","CDG-IIh","CDG2H","Carbohydrate deficient glycoprotein syndrome type IIh","Congenital disorder of glycosylation type 2h","Congenital disorder of glycosylation type IIh"],"definition":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95428/","orphanet_url":"https://www.orpha.net/en/disease/detail/95428","names":{"fr":{"name":"COG8-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2h","Anomalie congénitale de la glycosylation type IIh","CDG-IIh","CDG2H","Syndrome CDG type IIh","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIh"],"definition":"Le syndrome CDG (Congenital Disorders of Glycosylation) désigne un groupe de maladies autosomiques récessives touchant la synthèse des glycoprotéines. Le syndrome CDG de type IIh se caractérise par un retard psychomoteur sévère, un retard staturo-pondéral et une intolérance alimentaire au blé et aux produits laitiers."},"de":{"name":"COG8-CDG","synonyms":["CDG-IIh","CDG-Syndrom Typ IIh","CDG2H","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIh","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIh"],"definition":"Die CDG-Syndrome (Congenital Disorders of Glycosylation) sind eine Gruppe autosomal-rezessiv vererbter Krankheiten mit gestörter Glykoprotein-Synthese. Symptome des CDG-Syndroms Typ IIH sind schwere psychomotorische Retardierung, Gedeihstörungen, sowie Intoleranz gegenüber Weizen- und Molkereiprodukten."},"es":{"name":"COG8-CDG","synonyms":["CDG-IIh","CDG2H","Síndrome CDG tipo IIh","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIh","Trastorno congénito de la glicosilación tipo 2h","Trastorno congénito de la glicosilación tipo IIh"],"definition":"Los síndromes CDG (defectos congénitos de la glicosilación) son un grupo de trastornos autosómicos recesivos que afectan a la síntesis de glicoproteínas. El síndrome CDG tipo IIh está caracterizado por retraso psicomotor severo, fallo de medro e intolerancia al trigo y a los productos lácteos."},"it":{"name":"COG8-CDG","synonyms":["CDG-IIh","CDG2H","Disturbo congenito della glicosilazione, tipo 2h","Disturbo congenito della glicosilazione, tipo IIh","Sindrome CDG, tipo IIh","Sindrome delle glicoproteine carenti in carboidrati, tipo IIh"]},"nl":{"name":"COG8-CDG","synonyms":["CDG-IIh","CDG-syndroom type IIh","CDG2H","Congenitale defecten van de glycosylering type 2h","Congenitale defecten van de glycosylering type IIh","Congenitale glycosylatiestoornis type 2h","Congenitale glycosylatiestoornis type IIh","Koolhydraatdeficiënt glycoproteïne syndroom type IIh"],"definition":"De CDG (congenitale glycosylatiestoornis)-syndromen zijn een groep van autosomaal recessieve aandoeningen die synthese van glycoproteïnen aantasten. CDG-syndroom type IIh wordt gekenmerkt door ernstige psychomotorische achterstand, niet-gedijen, en intolerantie voor tarwe- en zuivelproducten."},"pt":{"name":"Síndrome dos CDG tipo IIh"},"pl":{"name":"COG8-CDG","synonyms":["CDG2H","CDG-IIh","Wrodzone zaburzenia glikozylacji typu 2h","Wrodzone zaburzenia glikozylacji typu IIh","Zespół CDG typu IIh","Zespół obniżonej glikozylacji glikoprotein typu IIh"]},"cs":{"name":"CDG syndrom, typ IIh","synonyms":["COG8-CDG","CDG-IIh","CDG2H"]},"uk":{"name":"COG8-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIh","Синдром CDG, тип IIh","CDG2H","CDG-IIh","Вроджене порушення глікозилювання типу 2h","Вроджене порушення глікозилювання типу IIh"],"definition":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products."},"zh":{"name":"2h型先天性糖基化障碍","synonyms":["碳水化合物缺乏糖蛋白综合征IIh型"],"definition":"先天性糖基化障碍（CDG）综合征是一组影响糖蛋白合成的常染色体隐性遗传疾病。CDG综合征IIh型的特点是严重的精神运动发育迟缓、生长不良和对小麦和乳制品不耐受。"},"tr":{"name":"COG8-CDG","synonyms":["CDG2H","CDG-IIh","CDG sendromu tip IIh","Doğumsal glikozilasyon bozukluğu tip 2h","Doğumsal glikozilasyon bozukluğu tip IIh","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIh"]}},"xrefs":[{"source":"OMIM","code":"611182","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":"677932376"},{"source":"MONDO","code":"0012635","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566987","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970021","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12411","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":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":"COG8","name":"component of oligomeric golgi complex 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17331980[PMID]","hgnc":"18623","ensembl":"ENSG00000213380","omim":"606979","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17331980[PMID]_17220172[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17331980[PMID]_17220172[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-16","source":"17220172[PMID]_17331980[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007267","label":"Chronic axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006846","label":"Acute encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001137","label":"Alternating esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}