{"orpha":79329,"name":"MGAT2-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIa","CDG-IIa","CDG2A","Carbohydrate deficient glycoprotein syndrome type IIa","Congenital disorder of glycosylation type 2a","Congenital disorder of glycosylation type IIa","N-acetylglucosaminyltransferase 2 deficiency"],"definition":"A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79329/","orphanet_url":"https://www.orpha.net/en/disease/detail/79329","names":{"fr":{"name":"MGAT2-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2a","Anomalie congénitale de la glycosylation type IIa","CDG-IIa","CDG2A","Déficit en N-acétylglucosaminyltransférase 2","Syndrome CDG type IIa","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIa"],"definition":"Forme rare d'anomalie de la N-glycosylation caractérisée par une dysmorphie faciale (grandes oreilles orientées vers l'arrière avec antihélix proéminents, crête nasale convexe, bouche ouverte, encombrement dentaire et grandes dents), des mouvements stéréotypés des mains, des crises d'épilepsie et un retard de développement de degré variable. S'observe par ailleurs une tendance aux saignements résultant d'une diminution de l'agrégation plaquettaire. La maladie est causée par des mutations de perte de fonction du gène <i>MGAT2</i> (14q21)."},"de":{"name":"MGAT2-CDG","synonyms":["CDG-IIa","CDG-Syndrom Typ IIa","CDG2A","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIa","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIa","N-Acetyl-Glukosaminyltransferase 2-Mangel"],"definition":"Eine seltene Krankheit aus der Gruppe der Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome, die mit einer Störung der N-Glykosylierung von Proteinen einhergehen. Das CDG-Syndrom Typ IIa (CDG 2A) ist gekennzeichnet durch Gesichtsdysmorphien (große, nach hinten gedrehte Ohren mit ausgeprägten Antihelices, konvexer Nasenkamm, offener Mund, große und eng stehende Zähne), stereotype Handbewegungen, Krampfanfälle und Entwicklungsverzögerungen unterschiedlichen Grades. Es wird auch eine Blutungsneigung beobachtet, die aus einer verminderten Thrombozytenaggregation resultiert. Ursache des CDG 2A sind inaktivierende Mutationen im <i>MGAT2</i>-Gen, das in der Chromosomenregion 14q21 liegt und die N-Acetylglukosaminyl-Transferase (GlcNAc-T II) des Golgi-Apparates kodiert."},"es":{"name":"MGAT2-CDG","synonyms":["CDG-IIa","CDG2A","Deficiencia de N-acetilglucosaminiltransferasa 2","Síndrome CDG tipo IIa","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIa","Trastorno congénito de la glicosilación tipo 2a","Trastorno congénito de la glicosilación tipo IIa"],"definition":"Es una forma poco frecuente de trastornos de la N-glicosilación de proteinas caracterizada por dismorfia facial (orejas grandes y rotadas posteriormente, con antihélix prominentes, cresta nasal convexa,boca abierta, dientes grandes y apiñados), movimientos estereotipados de las manos, convulsiones y diferentes grados de retraso en el desarrollo. También se observa una tendencia al sangrado debido a una reducción de la agregación plaquetaria. La enfermedad está causada por mutaciones de pérdida de función en el gen <i>MGAT2</i> (14q21)."},"it":{"name":"MGAT2-CDG","synonyms":["Disturbo congenito della glicosilazione, tipo IIa","Sindrome CDG, tipo IIa","Sindrome delle glicoproteine carenti in carboidrati, tipo IIa","CDG-IIa","CDG2A","Deficit di N-acetilglucosaminiltransferasi 2","Disturbo congenito della glicosilazione, tipo 2a"],"definition":"La MGAT2-CDG è una malattia congenita della N-glicosilazione, caratterizzata da dismorfismi facciali (orecchie grandi, ruotate posteriormente con antielice prominente, radice del naso convessa, bocca aperta, denti grandi e affastellati), movimenti stereotipati delle mani, crisi epilettiche e ritardo dello sviluppo di grado variabile. È stata osservata una tendenza alle emorragie, secondaria ad una ridotta aggregazione piastrinica. La malattia è causata dalle mutazioni con perdita di funzione nel gene MGAT2 (14q21)."},"nl":{"name":"MGAT2-CDG","synonyms":["CDG-IIa","CDG-syndroom type IIa","CDG2A","Congenitale defecten van de glycosylering type 2a","Congenitale defecten van de glycosylering type IIa","Congenitale glycosylatiestoornis type 2a","Congenitale glycosylatiestoornis type IIa","Koolhydraatdeficiënt glycoproteïne-syndroom type IIa","N-acetylglucosaminyltransferase 2-deficiëntie"],"definition":"Een zeldzame vorm van stoornis van N-glycosylatie, gekenmerkt door faciale dysmorfie (grote en naar achteren gedraaide oren met prominente antihelices, convexe neusrug, open mond, grote en over elkaar staande tanden), stereotiepe handbewegingen, insulten, en variërende gradaties van ontwikkelingsachterstand. Er wordt ook stollingsstoornis waargenomen als gevolg van verminderde aggregatie van bloedplaatjes. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>MGAT2</i> (14q21)."},"pt":{"name":"MGAT2-CDG","synonyms":["CDG-IIa","CDG2A","Deficiência de N-acetilglucosaminiltransferase 2","Doença congénita da glicosilação tipo 2a","Doença congénita da glicosilação tipo IIa","Síndrome CDG tipo IIa","Síndrome de glicoproteína deficiente em carbohidratos tipo IIa"],"definition":"Uma forma rara de perturbação da N-glicosilação proteica caracterizada por dismorfismo facial (orelhas grandes, com rotação posterior, anti-hélices proeminentes, crista nasal convexa, boca aberta, dentes grandes e apinhados), movimentos estereotipados das mãos, convulsões e vários graus de atraso no desenvolvimento. Observa-se uma tendência para fenómenos hemorrágicos que resulta da diminuição da agregação plaquetária. A doença é causada por mutações de perda de função no gene MGAT2 (14q21)."},"pl":{"name":"MGAT2-CDG","synonyms":["CDG2A","CDG-IIa","Niedobór N-acetyloglukozoaminylotransferazy 2","Wrodzone zaburzenie glikozylacji typu 2a","Wrodzone zaburzenie glikozylacji typu IIa","Zespół CDG typu IIa","Zespół obniżonej glikozylacji glikoprotein typu IIa"],"definition":"Rzadka postać zaburzeń N-glikozylacji białek charakteryzująca się dysmorfią twarzy (duże, zrotowane do tyłu uszy z wydatnymi grobelkami, wypukły grzbiet nosa, otwarte usta, duże i stłoczone zęby), stereotypowymi ruchami rąk, drgawkami i różnym stopniem opóźnienia rozwojowego. Obserwuje się także skłonność do krwawień, wynikającą ze zmniejszonej agregacji płytek krwi. Choroba jest spowodowana mutacjami o typie loss-of-function w genie MGAT2 (14q21)."},"cs":{"name":"MGAT2-CDG","synonyms":["CDG syndrom, typ IIa","CDG-IIa","CDG2A","Carbohydrate deficient glycoprotein syndrom type IIa","Vrozená porucha glykosylace, typ 2a","Vrozená porucha glykosylace, typ IIa","Deficit N-acetylglukosaminyltransferázy 2","Syndrom s deficitem karbohydrátového glykoproteinu typ IIa"]},"uk":{"name":"MGAT2-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIa","Синдром CDG, тип IIa","CDG2A","CDG-ІІа","Вроджене порушення глікозилювання типу 2а","Вроджене порушення глікозилювання типу IIa","Дефіцит N-ацетилглюкозамінілтрансферази 2"],"definition":"A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21)."},"zh":{"name":"先天性糖基化障碍2a型","synonyms":["碳水化合物缺乏糖蛋白综合征IIa型"]},"tr":{"name":"MGAT2-CDG","synonyms":["CDG2A","CDG-IIa","CDG sendromu tip IIa","Glikozilasyon tip 2a'nın doğumsal bozukluğu","N-asetilglukozaminiltransferaz 2 eksikliği","Glikozilasyon tip IIa'nın doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIa"]}},"xrefs":[{"source":"OMIM","code":"212066","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"650208613"},{"source":"MONDO","code":"0008908","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535752","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931008","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9828","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","classifications":[147,148,156]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MGAT2","name":"alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"7045","ensembl":"ENSG00000168282","omim":"602616","loci":["14q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22105986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22105986[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-20","source":"33044030[PMID]_20301507[PMID]_28742265[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003655","label":"Reduced activity of N-acetylglucosaminyltransferase II","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010990","label":"Abnormality of the common coagulation pathway","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005387","label":"Combined immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002557","label":"Hypoplastic nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003347","label":"Impaired lymphocyte transformation with phytohemagglutinin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003540","label":"Impaired platelet aggregation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000395","label":"Prominent antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200117","label":"Recurrent upper and lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001929","label":"Reduced factor XI activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500173","label":"Reflex asystolic syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Excluded (0%)","criteria":null}]}}