{"orpha":448010,"name":"CAD-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Iz","CDG-Iz","CDG1Z","Carbohydrate deficient glycoprotein syndrome type Iz","Congenital disorder of glycosylation type 1z"],"definition":"A rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448010/","orphanet_url":"https://www.orpha.net/en/disease/detail/448010","names":{"fr":{"name":"CAD-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1z","Anomalie congénitale de la glycosylation type IZ","CDG-Iz","CDG1Z","Syndrome CDG type Iz","Syndrome des glycoprotéines déficientes en hydrates de carbone type Iz"],"definition":"Anomalie congénitale rare de la glycosylation due à des mutations du gène <i>CAD</i>, caractérisée par une encéphalopathie épileptique, un retard de développement global, une anémie normocytaire et une anisopoïkilocytose. Une perte des compétences acquises en début d'enfance est observée, et l'évolution naturelle de la maladie peut être létale au début de l'enfance."},"de":{"name":"CAD-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ 1Z","CDG-IZ","CDG-Syndrom Typ IZ","CDG1Z","Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ IZ"]},"es":{"name":"CAD-CDG","synonyms":["CDG-Iz","CDG1Z","Síndrome CDG tipo Iz","Síndrome de glicoproteínas deficientes en carbohidratos tipo Iz","Trastorno congénito de la glicosilación tipo 1z"],"definition":"Es un trastorno congénito poco frecuente de glicosilación causado por mutaciones en el gen <i>CAD</i> y caracterizado por encefalopatía epiléptica, retraso global del desarrollo, anemia normocítica y anisopoiquilocitosis. Presenta pérdida de habilidades adquiridas en la primera infancia y el curso natural de la enfermedad puede ser letal en esta etapa."},"it":{"name":"CAD-CDG","synonyms":["Sindrome delle glicoproteine carenti in carboidrati, tipo IZ","CDG-IZ","CDG1Z","Disturbo congenito della glicosilazione, tipo 1Z","Sindrome CDG, tipo IZ"],"definition":"La CAD-CDG è una malattia congenita rara della glicosilazione, causata da mutazioni nel gene CAD, caratterizzata da encefalopatia epilettica, ritardo dello sviluppo globale, anemia normocitica ed anisopoichilocitosi. I pazienti perdono le competenze acquisite nella prima infanzia, epoca nella quale la malattia può essere letale."},"nl":{"name":"CAD-CDG","synonyms":["CDG-Iz","CDG-syndroom type Iz","CDG1Z","Congenitale defecten van de glycosylering type 1z","Congenitale glycosylatiestoornis type 1z","Koolhydraatdeficiënt glycoproteïne-syndroom type Iz"],"definition":"CAD-CDG is een zeldzame congenitale glycosylatiestoornis die wordt veroorzaakt door mutaties in het gen <i>CAD</i>, en die wordt gekarakteriseerd door epileptische encefalopathie, algehele ontwikkelingsachterstand, normocytaire anemie en anisopoikilocytose. Er is een verlies van verworven vaardigheden in de vroege kindertijd en het natuurlijke ziekteverloop kan letaal zijn in de vroege kindertijd."},"pt":{"name":"CAD-CDG"},"pl":{"name":"CAD-CDG","synonyms":["CDG1Z","CDG-Iz","Zespół CDG typu Iz","Wrodzone zaburzenie glikozylacji typu 1z","Zespół obniżonej glikozylacji glikoprotein typu Iz"],"definition":"*CAD-CDG jest rzadkim wrodzonym zaburzeniem glikozylacji spowodowanym mutacjami w genie CAD ; charakteryzuje się encefalopatią padaczkową, całościowym opóźnieniem rozwoju, niedokrwistością normocytarną i anizopoikilocytozą. Występuje utrata nabytych we wczesnym dzieciństwie umiejętności, a naturalny przebieg choroby może prowadzić do śmierci we wczesnym dzieciństwie."},"cs":{"name":"CAD-CDG","synonyms":["CDG syndrom, typ IZ","CDG-IZ","CDG1Z","Carbohydrate deficient glycoprotein syndrom type IZ","Vrozená porucha glykosylace, typ 1Z","Glykoproteinový syndrom deficitu sacharidů typu IZ"]},"uk":{"name":"CAD-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу Iz","Синдром CDG, тип Iz","CDG1Z","CDG-Iz","Вроджене порушення глікозилювання типу 1z"],"definition":"A rare congenital disorder of glycosylation caused by mutations in the <i>CAD</i> gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood."},"zh":{"name":"先天性糖基化异常疾病","synonyms":["碳水化合物缺乏糖蛋白综合征lz型"],"definition":"CAD-CDG是一种罕见的先天性糖基化疾病，由 CAD 基因的突变引起，其特征为癫痫性脑病，整体发育延迟，正细胞性贫血和异嗜单核细胞增多症。幼儿期会丧失后天的技能，而自然疾病病程可能会在幼儿期致死。"},"tr":{"name":"CAD-CDG","synonyms":["CDG1Z","CDG-Iz","CDG sendromu tip Iz","Tip 1z'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Iz"]}},"xrefs":[{"source":"OMIM","code":"616457","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":"0014647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225320","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13621","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":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":79193,"name":"Disorder of pyrimidine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CAD","name":"carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25678555[PMID]","hgnc":"1424","ensembl":"ENSG00000084774","omim":"114010","loci":["2p23.3"]}],"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":"25678555[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25678555[PMID]"}],"phenotypes":null}