{"orpha":468684,"name":"CCDC115-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIo","CDG-IIo","CDG2O","Carbohydrate deficient glycoprotein syndrome type IIo","Congenital disorder of glycosylation type 2o","Congenital disorder of glycosylation type IIo"],"definition":"A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468684/","orphanet_url":"https://www.orpha.net/en/disease/detail/468684","names":{"fr":{"name":"CCDC115-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2o","Anomalie congénitale de la glycosylation type IIo","CDG-IIo","CDG2O","Syndrome CDG type IIo","Syndrome des glycoprotéines déficientes en hydrates de carbone IIo"],"definition":"Anomalie congénitale rare de la glycosylation caractérisée par l'apparition infantile d'une hépatosplénomégalie, d'une insuffisance hépatique progressive, d'une hypotonie et d'un retard global de développement. Une légère dysmorphie et des crises convulsives ont également été rapportées. Les anomalies mises en évidence par les analyses de laboratoire sont un taux élevé d'enzymes hépatiques, une légère hypercholestérolémie et un faible taux de céruloplasmine sérique."},"de":{"name":"CCDC115-CDG","synonyms":["CDG (Congenital Disorder of Glycosylation) Typ IIo","CDG-IIo","CDG-Syndrom Typ IIo","CDG2o","Kohlenhydrat-defizientes Glykoprotein-Syndrom 2o","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIo"],"definition":"Eine seltene kongenitale Glykosylierungsstörung, die durch eine im Kindesalter beginnende Hepatosplenomegalie, progressives Leberversagen, Hypotonie und eine globale Entwicklungsverzögerung gekennzeichnet ist. Es wurde auch über leichte dysmorphe Merkmale und Krampfanfälle berichtet. Zu den Laboranomalien gehören erhöhte Leberenzyme, eine leichte Hypercholesterinämie und ein niedriger Serum-Ceruloplasmin-Wert."},"es":{"name":"CCDC115-CDG","synonyms":["CDG-IIo","CDG2o","Síndrome CDG tipo IIo","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIo","Trastorno congénito de la glicosilación tipo 2o","Trastorno congénito de la glicosilación tipo IIo"],"definition":"Es un trastorno congénito de la glicosilación poco frecuente caracterizado por el inicio en la lactancia de hepatoesplenomegalia, insuficiencia hepática progresiva, hipotonía y retraso global del desarrollo. También se han descrito características dismórficas leves y crisis epilépticas. Las alteraciones bioquímicas incluyen elevación de las enzimas hepáticas, hipercolesterolemia leve y disminución de la ceruloplasmina sérica."},"it":{"name":"CCDC115-CDG","definition":"Si tratta di una malattia congenita rara della glicosilazione, che esordisce nella prima infanzia con epatosplenomegalia, insufficienza epatica progressiva, ipotonia e ritardo dello sviluppo globale. I pazienti possono presentare anche dismorfismi sfumati e crisi epilettiche. Gli esami di laboratorio mostrano livelli elevati degli enzimi epatici, live ipercolesterolemia e livelli bassi di ceruloplasmina nel siero."},"nl":{"name":"CCDC115-CDG","synonyms":["CDG-IIo","CDG-syndroom type IIo","CDG2O","Congenitale defecten van de glycosylering type 2o","Congenitale defecten van de glycosylering type IIo","Congenitale glycosylatiestoornis type 2o","Congenitale glycosylatiestoornis type IIo"],"definition":"Een zeldzame congenitale glycosylatiestoornis, gekenmerkt door infantiele aanvang van hepatosplenomegalie, progressief leverfalen, hypotonie, en algehele ontwikkelingsachterstand. Milde dysmorfe kenmerken en insulten werden ook reeds gerapporteerd. Afwijkingen bij laboratoriumonderzoek zijn onder meer toename van leverenzymen, milde hypercholesterolemie, en laag gehalte van ceruloplasmine in serum."},"pt":{"name":"CCDC115-CDG","synonyms":["CDG-IIo","CDG2O","Doença congénita da glicosilação tipo 2o","Doença congénita da glicosilação tipo IIo","Síndrome CDG tipo IIo","Síndrome de glicoproteína deficiente em carbohidratos tipo IIo"],"definition":"Defeito congénito de glicosilação raro caracterizado por hepatoesplenomegalia de início infantil, insuficiência hepática progressiva, hipotonia e atraso global do desenvolvimento. Características dismórficas leves e convulsões também foram reportadas. As alterações laboratoriais incluem enzimas hepáticas elevadas, hipercolesterolemia leve e ceruloplasmina sérica baixa."},"pl":{"name":"CCDC115-CDG","synonyms":["CDG2O","CDG-IIo","Zespół CDG typu IIo","Wrodzone zaburzenie glikozylacji typu 2o","Wrodzone zaburzenie glikozylacji typu IIo","Zespół obniżonej glikozylacji glikoprotein typu IIo"]},"cs":{"name":"CCDC115-CDG","synonyms":["CDG2O","CDG-IIo","CDG syndrome type IIo","Congenital disorder of glycosylation type 2o","Congenital disorder of glycosylation type IIo","Carbohydrate deficient glycoprotein syndrome type IIo","CDG syndrom typ IIo","Vrozená porucha glykosylace typ 2o","Vrozená porucha glykosylace typ IIo","Glykoproteinový syndrom deficitu sacharidů typu IIo"]},"uk":{"name":"CCDC115-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIo","Синдром CDG, тип IIo","CDG2O","CDG-IIo","Вроджене порушення глікозилювання типу 2o","Вроджене порушення глікозилювання типу IIo"],"definition":"A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin."},"zh":{"name":"IIo型先天性糖基化疾病","synonyms":["碳水化合物缺乏糖蛋白综合征llo型"]},"tr":{"name":"CCDC115-CDG","synonyms":["CDG2O","CDG-IIo","CDG sendromu tip IIo","Tip 2o glikozilasyonun doğumsal bozukluğu","Tip IIo glikozilasyonun doğumsal bozukluğu","Karbonhidrat eksikliği glikoprotein sendromu tip IIo"]}},"xrefs":[{"source":"OMIM","code":"616828","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":"0014789","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225191","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":477811,"name":"Rare hypercholesterolemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"VMA22","name":"vacuolar ATPase assembly factor VMA22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26833332[PMID]","hgnc":"28178","ensembl":"ENSG00000136710","omim":"613734","loci":["2q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26833332[PMID]_26833330[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26833332[PMID]_26833330[PMID]"}],"phenotypes":null}