{"orpha":79330,"name":"MOGS-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIb","CDG-IIb","CDG2B","Carbohydrate deficient glycoprotein syndrome type IIb","Congenital disorder of glycosylation type 2b","Congenital disorder of glycosylation type IIb","Glucosidase 1 deficiency"],"definition":"MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene <i> MOGS </i> (2p13.1).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79330/","orphanet_url":"https://www.orpha.net/en/disease/detail/79330","names":{"fr":{"name":"MOGS-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2b","Anomalie congénitale de la glycosylation type IIb","CDG-IIb","CDG2B","Déficit en glucosidase 1","Syndrome CDG type IIb","Syndrome des glycoprotéines déficientes en hydrates de carbone type IIb"],"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":"GCS1-CDG","synonyms":["CDG-IIb","CDG-Syndrom Typ IIb","CDG2B","Glukosidase 1-Mangel","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIb","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIb"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ IIb (CDG 2B) ist gekennzeichnet durch generalisierte Hypotonie, kraniofaziale Dysmorphie (vorstehendes Hinterhaupt, kurze Lidspalten, lange Wimpern, breite Nase, hochgewölbter Gaumen, Retrognathie), hypoplastische Genitalien, Krampfanfälle, Fütterungsschwierigkeiten, Hypoventilation, schwere Hypogammaglobulinämie mit generalisierten Ödemen und erhöhte Resistenz gegen bestimmte Virusinfektionen (insbesondere gegen behüllte Viren). Die Krankheit wird durch Funktionsverlust-Mutationen im <i>MOGS</i>-Gen (2p13.1) verursacht."},"es":{"name":"GCS1-CDG","synonyms":["CDG-IIb","CDG2B","Deficiencia de glucosidasa 1","Síndrome CDG tipo IIb","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIb","Trastorno congénito de la glicosilación tipo 2b","Trastorno congénito de la glicosilación tipo IIb"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por hipotonía generalizada, dismorfia craneofacial (occipucio prominente, fisuras palpebrales cortas, pestañas largas, nariz ancha, paladar ojival, retrognatia), hipoplasia genital, convulsiones, dificultades en la alimentación, hipoventilación, hipogammaglobulinemia grave con edema generalizado y una mayor resistencia a determinadas infecciones víricas (especialmente a virus encapsulados). La enfermedad está causada por mutaciones de pérdida de función en el gen <i>MOGS</i> (2p13.1)."},"it":{"name":"GCS1-CDG","synonyms":["CDG-IIb","CDG2B","Deficit di glucosidasi 1","Disturbo congenito della glicosilazione, tipo 2b","Disturbo congenito della glicosilazione, tipo IIb","Sindrome CDG, tipo IIb","Sindrome delle glicoproteine carenti in carboidrati, tipo IIb"],"definition":"La MOGS-CDG è una malattia congenita della N-glicosilazione, caratterizzata da ipotonia generalizzata, dismorfismi craniofacciali (occipite prominente, rime palpebrali corte, ciglia lunghe, naso largo, palato ogivale, retrognazia), ipoplasia dei genitali, crisi epilettiche, difficoltà di alimentazione, ipoventilazione, ipogammaglobulinemia grave con edema generalizzato e resistenza relativa ad alcune infezioni virali (in particolare ai virus capsulati). La malattia è causata dalle mutazioni con perdita di funzione nel gene MOGS (2p13.1)."},"nl":{"name":"MOGS-CDG","synonyms":["CDG-IIb","CDG-syndroom type IIb","CDG2B","Congenitale defecten van de glycosylering type 2b","Congenitale defecten van de glycosylering type IIb","Congenitale glycosylatiestoornis type 2b","Congenitale glycosylatiestoornis type IIb","Glucosidase 1-deficiëntie","Koolhydraatdeficiënt glycoproteïne-syndroom type IIb"],"definition":"MOGS-CDG is een vorm van congenitale stoornis van N-glycosylatie die gekarakteriseerd wordt door gegeneraliseerde hypotonie, craniofaciale dysmorfie (prominent achterhoofd, korte ooglidspleten, lange wimpers, brede neus, hoog gebogen verhemelte, retrognathie), hypoplastische genitaliën, insulten, voedingsproblemen, hypoventilatie, ernstige hypogammaglobulinemie met gegeneraliseerd oedeem, en verhoogde resistentie tegen bepaalde virale infecties (voornamelijk tegen omhulde virussen). De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>MOGS</i> (2p13.1)."},"pt":{"name":"MOGS-CDG","synonyms":["CDG-IIb","CDG2B","Deficiência de glucosidase 1","Doença congénita da glicosilação tipo 2b","Doença congénita da glicosilação tipo IIb","Síndrome CDG tipo IIb","Síndrome de glipoproteína deficiente em carbohidratos tipo IIb"]},"pl":{"name":"GCS1-CDG","synonyms":["CDG2B","CDG-IIb","Niedobór glukozydazy 1","Wrodzone zaburzenie glikozylacji typu 2b","Wrodzone zaburzenie glikozylacji typu IIb","Zespół CDG typu IIb","Zespół obniżonej glikozylacji glikoprotein typu IIb"]},"cs":{"name":"GCS1-CDG","synonyms":["CDG syndrom, typ IIb","CDG-IIb","CDG2B","Carbohydrate deficient glycoprotein syndrom type IIb","Vrozená porucha glykosylace, typ 2b","Vrozená porucha glykosylace, typ IIb","Deficit glukosidázy 1","Syndrom s deficitem karbohydrátového glykoproteinu typ IIb"]},"uk":{"name":"MOGS-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром типу IIb","Синдром CDG, тип IIb","CDG2B","CDG-IIb","Вроджене порушення глікозилювання типу 2b","Вроджене порушення глікозилювання типу IIb","Дефіцит глюкозидази 1"],"definition":"MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene <i> MOGS </i> (2p13.1)."},"zh":{"name":"先天性糖基化障碍2b型","synonyms":["碳水化合物缺乏糖蛋白综合征Ⅱb型"]},"tr":{"name":"MOGS-CDG","synonyms":["CDG2B","CDG-IIb","CDG sendromu tip IIb","Glukozidaz 1 eksikliği","Glikozilasyon tip 2b'nın doğumsal bozukluğu","Glikozilasyon tip IIb'nın doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IIb"]}},"xrefs":[{"source":"OMIM","code":"606056","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":"959745817"},{"source":"MONDO","code":"0011629","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"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":"MOGS","name":"mannosyl-oligosaccharide glucosidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"24862","ensembl":"ENSG00000115275","omim":"601336","loci":["2p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24716661[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24716661[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-24","source":"29235540[PMID]_20301507[PMID]_33058492[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004463","label":"Absent brainstem auditory responses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020110","label":"Bone fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002286","label":"Fair hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031218","label":"Inappropriate antidiuretic hormone secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}