{"orpha":464443,"name":"COG6-CGD","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG2L","Congenital disorder of glycosylation type 2l","Congenital disorder of glycosylation type IIL","CDG syndrome type IIL","CDG-IIL"],"definition":"A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464443/","orphanet_url":"https://www.orpha.net/en/disease/detail/464443","names":{"fr":{"name":"COG6-CGD","synonyms":["Anomalie congénitale de la glycosylation type 2l","Anomalie congénitale de la glycosylation type IIL","CDG-IIL","CDG2L","Syndrome CDG type IIL"],"definition":"Anomalie congénitale rare de la glycosylation caractérisée par l'apparition néonatale d'un retard global de développement, d'une hypotonie, d'un retard de croissance, d'anomalies hématologiques/immunologiques, d'infections récurrentes, d'une atteinte hépatique (avec hépatosplénomégalie, cholestase, fibrose ou cirrhose) et d'une entéropathie. Parmi les autres manifestations rapportées figurent la dysmorphie crânio-faciale (à savoir, microcéphalie, larges fentes palpébrales et la rétrognathie), l'hypohidrose, l'hyperkératose et les anomalies cardiaques et musculo-squelettiques. L'imagerie cérébrale peut montrer un corps calleux hypoplasique, une atrophie cérébrale et cérébelleuse, et des ventricules élargis."},"de":{"name":"COG6-CGD","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ IIl","CDG-Syndrom Typ 2l","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ 2l","Kongenitale Glykosylierungs-Krankheit Typ 2l"],"definition":"Eine seltene kongenitale Glykosylierungsstörung, die durch eine globale Entwicklungsverzögerung bei Neugeborenen, Hypotonie, Gedeihstörung, hämatologische/immunologische Anomalien, wiederkehrende Infektionen, Leberbeteiligung (mit Hepatosplenomegalie, Cholestase, Fibrose oder Zirrhose) und Enteropathie gekennzeichnet ist. Weitere gemeldete Manifestationen sind dysmorphe kraniofaziale Merkmale (wie Mikrozephalie, breite Lidspalten und Retrognathie), Hypohidrose, Hyperkeratose sowie kardiale und muskuloskelettale Anomalien. Die Bildgebung des Gehirns kann ein hypoplastisches Corpus callosum, eine Atrophie des Gehirns und des Kleinhirns sowie vergrößerte Ventrikel zeigen."},"es":{"name":"COG6-CGD","synonyms":["Trastorno congénito de la glicosilación tipo 2l","Trastorno congénito de la glicosilación tipo IIl"],"definition":"Es un trastorno congénito poco frecuente de la glicosilación caracterizado por el inicio neonatal de retraso global del desarrollo, hipotonía, retraso del crecimiento, anomalías hematológicas/inmunológicas, infecciones recurrentes, afectación hepática (con hepatoesplenomegalia, colestasis, fibrosis o cirrosis) y enteropatía. Otras manifestaciones descritas incluyen características craneofaciales dismórficas (como microcefalia, fisuras palpebrales amplias y retrognatia), hipohidrosis, hiperqueratosis y anomalías cardíacas y musculoesqueléticas. Las neuroimágenes pueden mostrar hipoplasia del cuerpo calloso, atrofia cerebral y cerebelosa y agrandamiento de los ventrículos."},"it":{"name":"COG6-CGD","definition":"Si tratta di una malattia congenita rara della glicosilazione, caratterizzata da ritardo dello sviluppo globale ad esordio neonatale, ipotonia, ritardo della crescita, anomalie ematiche/immunologiche, infezioni ricorrenti, interessamento epatico (epatosplenomegalia, colestasi, fibrosi o cirrosi) ed enteropatia. Altri segni clinici sono i dismorfismi craniofacciali (microcefalia, rime palpebrali larghe, retrognazia), l'ipoidrosi, l'ipercheratosi, le cardiopatie e le anomalie muscoloscheletriche. Le neuroimmagini mostrano una ipoplasia del corpo calloso, atrofia cerebrale e cerebellare, e dilatazione dei ventricoli."},"nl":{"name":"COG6-CGD","synonyms":["Congenitale defecten van de glycosylering type 2l","Congenitale defecten van de glycosylering type IIl","Congenitale glycosylatiestoornis type 2l","Congenitale glycosylatiestoornis type IIl"],"definition":"Een zeldzame congenitale glycosylatiestoornis, gekarakteriseerd door neonatale aanvang van algehele ontwikkelingsachterstand, hypotonie, groeifalen, hematologische/immunologische anomalieen, recidiverende infecties, betrokkenheid van lever (met hepatosplenomegalie, cholestase, fibrose, of cirrose), en enteropathie. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer dysmorfe craniofaciale kenmerken (waaronder microcefalie, brede ooglidspleten, en retrognathie), hypohidrose, hyperkeratose, en cardiale en musculoskeletale anomalieen. Beeldvorming van hersenen toont mogelijk hypoplastisch corpus callosum, cerebrale en cerebellaire atrofie, en vergrote ventrikels."},"pt":{"name":"COG6-CGD","synonyms":["CDG-IIL","CDG2L","Doença congénita da glicosilação tipo 2L","Doença congénita da glicosilação tipo IIL","Síndrome CDG tipo IIL"]},"pl":{"name":"COG6-CGD","synonyms":["Wrodzone zaburzenia glikozylacji typu 2l","Wrodzone zaburzenia glikozylacji typu IIl"]},"cs":{"name":"COG6-CDG","synonyms":["CDG2L","CDG-IIL","CDG syndrome type IIL","Congenital disorder of glycosylation type 2l","Congenital disorder of glycosylation type IIL","CDG syndrom typ IIL","Vrozená porucha glykosylace typ 2l","Vrozená porucha glykosylace typ IIL"]},"uk":{"name":"COG6-CGD","synonyms":["Синдром CDG, тип IIL","CDG2L","CDG-IIL","Вроджене порушення глікозилювання типу 2l","Вроджене порушення глікозилювання типу IIL"],"definition":"A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles."},"zh":{"name":"先天性糖基化障碍IIL型","synonyms":["先天性糖基化障碍IIL型"]},"tr":{"name":"COG6-CGD","synonyms":["CDG2L","CDG-IIL","CDG sendromu tip IIL","Tip 2l glikozilasyonun doğumsal bozukluğu","Glikozilasyon tip IIL'nin doğumsal bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"614576","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,"icd11_uri":"null"},{"source":"MONDO","code":"0013810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553230","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10944","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":309568,"name":"Defect in conserved oligomeric Golgi complex","classifications":[150,156]}],"children":[],"genes":[{"symbol":"COG6","name":"component of oligomeric golgi complex 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23430903[PMID]_26260076[PMID]","hgnc":"18621","ensembl":"ENSG00000133103","omim":"606977","loci":["13q14.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26260076[PMID]_23430903[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26260076[PMID]_23430903[PMID]"}],"phenotypes":null}