{"orpha":435934,"name":"COG2-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COG2-related congenital disorder of glycosylation"],"definition":"A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435934/","orphanet_url":"https://www.orpha.net/en/disease/detail/435934","names":{"fr":{"name":"COG2-CDG","synonyms":["Anomalie congénitale de la glycosylation associée à COG2"],"definition":"Anomalie congénitale rare de la glycosylation due à des mutations du gène <i>COG2</i> et caractérisée par une présentation normale à la naissance, suivie d'une détérioration progressive avec microcéphalie post-natale, retard de développement, déficience intellectuelle, convulsions, quadriplégie spastique, dysfonctionnement hépatique, hypocuprémie et hypocéruloplasminémie au cours de la première année de vie. Une atrophie cérébrale diffuse et un corps calleux fin peuvent être observés à l'IRM cérébrale."},"de":{"name":"COG2-CDG","synonyms":["COG2-assoziierte kongenitale Glykosylierungs-Krankheit"],"definition":"Eine seltene, kongenitale Glykosylierungsstörung, die durch Mutationen im <i>COG2</i>-Gen verursacht wird. Die frühe Entwicklung erscheint normal, gefolgt von einer fortschreitenden Beeinträchtigung mit postnataler Mikrozephalie, Entwicklungsverzögerung, Intelligenzminderung, Krampfanfällen, spastischer Tetraplegie, Leberfunktionsstörung, Hypokupremie und Hypokeruloplasminämie im ersten Lebensjahr. Im MRT des Gehirns können eine diffuse zerebrale Atrophie und ein dünnes Corpus Callosum beobachtet werden."},"es":{"name":"COG2-CDG","synonyms":["Trastorno congénito de la glicosilación asociado a COG2"],"definition":"Es un trastorno congénito y poco frecuente de la glicosilación causado por mutaciones en el gen <i>COG2</i> y caracterizado por una presentación normal al nacimiento, seguida de un deterioro progresivo con microcefalia postnatal, retraso del desarrollo, discapacidad intelectual, convulsiones, tetraplejia espástica, insuficiencia hepática, hipocupremia e hipoceruloplasminemia en el primer año de vida. En la resonancia magnética cerebral se puede observar atrofia cerebral difusa y adelgazamiento del cuerpo calloso."},"it":{"name":"COG2-CDG","synonyms":["Disturbo congenito della glicosilazione COG2-correlato"],"definition":"È una malattia congenita rara della glicosilazione, causata da mutazioni nel gene <i>COG2</i> ; è caratterizzata da un quadro clinico apparentemente normale alla nascita seguito, nel primo anno di vita, da un deterioramento progressivo associato a microcefalia postnatale, ritardo dello sviluppo, disabilità intellettiva, crisi epilettiche, quadriplegia spastica, disfunzione epatica, ipocupremia ed ipoceruloplasminemia. La RMN del cervello evidenzia atrofia cerebrale diffusa e assottigliamento del corpo calloso."},"nl":{"name":"COG2-CDG","synonyms":["COG2-gerelateerde congenitale glycosylatiestoornis"],"definition":"Een zeldzame, congenitale glycosylatiestoornis die veroorzaakt wordt door mutaties in het gen <i>COG2</i> en die gekarakteriseerd wordt door een normale presentatie bij de geboorte, gevolgd door progressieve aftakeling met postnatale microcefalie, ontwikkelingsachterstand, intellectuele achterstand, insulten, spastische quadriplegie, leverdisfunctie, hypocupremie en hypoceruloplasminemie in het eerste levensjaar. Bij beeldvorming van de hersenen met MRI worden mogelijk diffuse cerebrale atrofie en dun corpus callosum waargenomen."},"pt":{"name":"COG2-CDG"},"pl":{"name":"COG2-CDG","synonyms":["Wrodzone zaburzenie glikozylacji związane z COG2"]},"cs":{"name":"COG2-CDG","synonyms":["COG2-vázaná vrozená porucha glykosylace"]},"uk":{"name":"COG2-CDG","synonyms":["Вроджене порушення глікозилювання, повязане з COG2"],"definition":"A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI."},"zh":{"name":"COG2异常所致的先天性糖基化障碍","synonyms":["COG2相关先天性糖基化障碍"],"definition":"一种罕见的先天性糖基化疾病，由 COG2 基因突变引起，其特征是在出生时表现正常，后逐渐恶化，可出现小头畸形，发育迟缓，智力障碍，癫痫发作，痉挛性四肢瘫痪，肝功能障碍，一岁内出现低血浆铜蓝蛋白血症和低铜血。在脑部MRI上可观察到弥漫性脑萎缩和胼胝体变薄。"},"tr":{"name":"COG2-CDG","synonyms":["COG2-ilişkili doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"617395","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":"0054559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4479353","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":"COG2","name":"component of oligomeric golgi complex 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24784932[PMID]","hgnc":"6546","ensembl":"ENSG00000135775","omim":"606974","loci":["1q42.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"24784932[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24784932[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-04","source":"20301507[PMID]_24784932[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010837","label":"Decreased circulating ceruloplasmin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011967","label":"Decreased circulating copper concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null}]}}