{"orpha":137,"name":"Congenital disorder of glycosylation","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG","Carbohydrate deficient glycoprotein syndrome"],"definition":"A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137/","orphanet_url":"https://www.orpha.net/en/disease/detail/137","names":{"fr":{"name":"Anomalie congénitale de la glycosylation","synonyms":["CDG","Syndrome des glycoprotéines déficientes en hydrates de carbone"],"definition":"Groupe d'erreurs innées du métabolisme rares, caractérisé par une activité défectueuse des enzymes participant à la glycosylation (les protéines et autres macromolécules sont modifiées à la suite de la liaison et de la configuration des chaînes latérales d'oligosaccharides). À l'heure actuelle, de nombreuses nouvelles maladies sont régulièrement décrites pour ce groupe qui englobe diverses maladies affectant plusieurs systèmes, notamment le système nerveux central, la fonction musculaire, l'immunité, le système endocrinien et la coagulation. En fonction de la voie de synthèse affectée, on distingue dans ce groupe : les anomalies de la N-glycosylation des protéines, anomalies de la O-glycosylation des protéines, anomalies de la glycosylation multiple et anomalies du glycosphingolipide et de l'ancrage de glycosylation du glycosylphosphatidylinositol."},"de":{"name":"Kongenitale Glykosylierungsstörung","synonyms":["CDG","Kohlenhydrat-defizientes Glykoprotein-Syndrom","Kongenitale Glykosylierungs-Krankheit","Kongenitaler Defekt der Glykosylierung"],"definition":"Eine schnell wachsende Gruppe angeborener Stoffwechselstörungen, die durch eine fehlerhafte Aktivität von Enzymen gekennzeichnet sind, die an der Glykosylierung (Modifizierung von Proteinen und anderen Makromolekülen durch Hinzufügen und Verarbeiten von Oligosaccharid-Seitenketten) beteiligt sind. Diese Gruppe umfasst phänotypisch unterschiedliche Störungen, die mehrere Systeme betreffen, darunter das zentrale Nervensystem, die Muskelfunktion, das Immunsystem, das endokrine System und die Blutgerinnung. Die zahlreichen Entitäten in dieser Gruppe werden je nach betroffenem Syntheseweg in Störungen der Protein-N-Glykosylierung, Störungen der Protein-O-Glykosylierung, Störungen der multiplen Glykosylierung und Störungen der Glykosphingolipid- und Glykosphatidylinositol-Anker-Glykosylierung unterteilt."},"es":{"name":"Trastorno congénito de la glicosilación","synonyms":["CDG","Síndrome de glicoproteínas deficientes en carbohidratos"],"definition":"Es un grupo de errores innatos del metabolismo con un número creciente de entidades diferentes, caracterizadas por una actividad defectuosa de las enzimas que participan en los procesos de glicosilación (modificación de proteínas y otras macromoléculas mediante la adición y el procesamiento de cadenas laterales de oligosacáridos). El grupo se compone de trastornos con diferentes fenotipos que afectan a múltiples sistemas, tales como el sistema nervioso central, la función muscular, el sistema inmunitario, el sistema endocrino y la coagulación. Las numerosas entidades pertenecientes a este grupo se subdividen, en función de la vía sintética afectada, en trastornos de la N-glicosilación de proteínas, trastornos de la O-glicosilación de proteínas, trastornos de la glicosilación múltiple, y trastornos de la glicosilación de glicoesfingolípidos y del anclaje a glicosilfosfatidilinositol."},"it":{"name":"Disturbo congenito della glicosilazione","synonyms":["CDG","Sindrome delle glicoproteine carenti in carboidrati"],"definition":"Il disturbo congenito della glicosilazione (CDG) è un gruppo in rapida espansione di difetti congeniti del metabolismo, caratterizzati da deficit dell'attività degli enzimi che prendono parte alla glicosilazione (modifica delle proteine e altre macromolecole attraverso l'aggiunta e il processamento delle catene laterali degli oligosaccaridi). I CDG comprendono malattie diverse dal punto di vista fenotipico, che interessano vari sistemi, tra i quali il sistema nervoso centrale, la funzione muscolare, il sistema immunitario, il sistema endocrino e la coagulazione. Le numerose malattie comprese in questo gruppo sono suddivise, in base alla via sintetica interessata, nel disturbo della N-glicosilazione delle proteine, nel disturbo della O-glicosilazione delle proteine, nel disturbo della glicosilazione multipla e nel disturbo della glicosilazione dei glicosfingolipidi e delle proteine ancorate al glicosilfosfatidilinositolo (si vedano questi termini)."},"nl":{"name":"Congenitale glycosylatiestoornis","synonyms":["CDG","Congenitale defecten van glycosylering","Koolhydraatdeficiënt glycoproteïnesyndroom"],"definition":"Een snelgroeiende groep van aangeboren defecten van het metabolisme, gekarakteriseerd door verstoorde activiteit van enzymen die tussenkomen bij glycosylatie (modificatie van proteïnen en andere macromoleculen door toevoegen en bewerken van oligosacharide-zijketens). Deze groep bestaat uit fenotypisch diverse stoornissen die meerdere systemen treffen, waaronder centraal zenuwstelsel, spieren, immuniteit, endocrien systeem, en coagulatie. De vele entiteiten in deze groep zijn onderverdeeld, op basis van de synthetische processen die getroffen worden, in stoornis van proteïne N-glycosylatie, stoornis van proteïne O-glycosylatie, stoornis van meervoudige glycosylatie, en stoornis van glycosfingolipide en glycosylfosfatidylinositolanker-glycosylatie."},"pt":{"name":"Doença congénita da glicosilação","synonyms":["CDG","Síndrome de glicoproteínas deficientes em carboidratos"],"definition":"Um grupo de erros inatos do metabolismo em rápido crescimento, caracterizado pela atividade anómala de enzimas que participam na glicosilação (modificação de proteínas e outras macromoléculas pela adição e processamento de cadeias laterais de oligossacarídeos). Este grupo é composto por distúrbios fenotipicamente diversos que afetam múltiplos sistemas, incluindo o sistema nervoso central, a função muscular, a imunidade, o sistema endócrino e a coagulação. As numerosas entidades deste grupo subdividem-se, com base na via sintética afetada, em distúrbio da N-glicosilação proteica, distúrbio da O-glicosilação proteica, distúrbio da glicosilação múltipla e distúrbio da glicosilação das âncoras de glicoesfingolípidos e glicosilfosfatidilinositol."},"pl":{"name":"Wrodzone zaburzenia glikozylacji","synonyms":["CDG","Zespół niedoboru wodorowęglanu glikoproteiny"]},"cs":{"name":"Vrozená porucha glykosylace","synonyms":["CDG","Glykoproteinový syndrom deficitu sacharidů"]},"uk":{"name":"Вроджене порушення глікозилювання","synonyms":["Глікопротеїновий синдром з дефіцитом вуглеводів","CDG"],"definition":"A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation."},"zh":{"name":"先天性糖基化障碍","synonyms":["碳水化合物缺乏糖蛋白综合征"]},"tr":{"name":"Doğumsal glikozilasyon bozukluğu","synonyms":["CDG","Karbonhidrat eksikliği olan glikoprotein sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E77.8","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0015286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10307","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68367,"name":"Rare inborn error of metabolism","classifications":[150,156]}],"children":[{"orpha":309515,"name":"Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","type":"Category"},{"orpha":309526,"name":"Disorder of multiple glycosylation","type":"Category"},{"orpha":309347,"name":"Disorder of protein N-glycosylation","type":"Category"},{"orpha":309447,"name":"Disorder of protein O-glycosylation","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}