{"orpha":79326,"name":"ALG2-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Ii","CDG-Ii","CDG1I","Carbohydrate deficient glycoprotein syndrome type Ii","Congenital disorder of glycosylation type 1i","Congenital disorder of glycosylation type Ii","Mannosyltransferase 2 deficiency"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene <i>ALG2</i> (9q31.1). Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79326/","orphanet_url":"https://www.orpha.net/en/disease/detail/79326","names":{"fr":{"name":"Syndrome CDG-ALG2","synonyms":["Déficit en mannosyltransférase 2","Syndrome CDG type Ii","Syndrome des glycoprotéines déficientes en hydrates de carbone Ii","Anomalie congénitale de la glycosylation type 1i","Anomalie congénitale de la glycosylation type Ii","CDG-Ii","CDG1I"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par un colobome de l'iris, une cataracte, des spasmes infantiles, un retard de développement et une anomalie des facteurs de coagulation. Des mutations de perte de fonction du gène <i>ALG2</i> (9q31.1) sont à l'origine de la maladie. Le mode de transmission est autosomique récessif."},"de":{"name":"ALG2-CDG","synonyms":["CDG-Ii","CDG-Syndrom Typ Ii","CDG1I","Kohlenhydrat-defizientes Glykoprotein-Syndrom Ii","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ii","Mannosyltransferase 2-Mangel"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe angeborener Stoffwechselstörungen mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ Ii (CDG 1I) ist gekennzeichnet durch Iris-Kolobom, Katarakt, kindliche Krämpfe, Entwicklungsverzögerung und abnorme Gerinnungsfaktoren.. Die Krankheit wird durch Funktionsverlust-Mutationen im Gen <i>ALG2</i>-Gen ( 9q22.33) verursacht. Die Vererbung ist autosomal-rezessiv."},"es":{"name":"ALG2-CDG","synonyms":["CDG-Ii","CDG1I","Deficiencia de manosiltransferasa 2","Síndrome CDG tipo Ii","Síndrome de glicoproteínas deficientes en carbohidratos tipo Ii","Trastorno congénito de la glicosilación tipo 1i","Trastorno congénito de la glicosilación tipo Ii"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por coloboma de iris, cataratas, espasmos infantiles, retraso en el desarrollo y anomalías de los factores de coagulación. La enfermedad está causada por mutaciones de pérdida de función en el gen <i>ALG2</i> (9q31.1). El patrón de herencia es autosómico recesivo."},"it":{"name":"ALG2-CDG","synonyms":["CDG-Ii","CDG1I","Deficit di mannosiltransferasi 2","Disturbo congenito della glicosilazione, tipo 1i","Disturbo congenito della glicosilazione, tipo Ii","Sindrome CDG, tipo Ii","Sindrome delle glicoproteine carenti in carboidrati, tipo Ii"],"definition":"L'ALG2-CDG è una malattia congenita della N-glicosilazione, caratterizzata da coloboma dell'iride, cataratta, spasmi neonatali, ritardo dello sviluppo e anomalie dei fattori di coagulazione. La malattia è causata da alcune mutazioni con perdita di funzione nel gene <i>ALG2</i> (9q31.1). La trasmissione è autosomica recessiva."},"nl":{"name":"ALG2-CDG","synonyms":["CDG-Ii","CDG-syndroom type Ii","CDG1I","Congenitale defecten van de glycosylering type 1i","Congenitale defecten van de glycosylering type Ii","Congenitale glycosylatiestoornis type 1i","Congenitale glycosylatiestoornis type Ii","Koolhydraatdeficiënt glycoproteïne-syndroom Ii","Mannosyltransferase 2-deficiëntie"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door iriscoloboom, cataract, infantiele spasmen, ontwikkelingsachterstand en abnormale coagulatiefactoren. De ziekte wordt veroorzaakt door mutaties met functieverlies in het gen <i>ALG2</i> (9q31.1). Overerving gebeurt autosomaal recessief."},"pt":{"name":"ALG2-CDG","synonyms":["CDG-Ii","CDG1I","Deficiência de manosiltransferase 2","Doença congénita da glicosilação tipo 1i","Doença congénita da glicosilação tipo Ii","Síndrome CDG tipo Ii","Síndrome de glicoproteínas deficientes em carbohidratos tipo Ii"]},"pl":{"name":"ALG2-CDG","synonyms":["CDG1I","CDG-Ii","Niedobór mannozylotransferazy 2","Wrodzone zaburzenie glikozylacji typu 1i","Wrodzone zaburzenie glikozylacji typu Ii","Zespół CDG typu Ii","Zespół obniżonej glikozylacji glikoprotein typu Ii"]},"cs":{"name":"ALG2-CDG","synonyms":["CDG syndrom, typ Ii","CDG-Ii","CDG1I","Carbohydrate deficient glycoprotein syndrom type Ii","Vrozená porucha glykosylace, typ 1i","Vrozená porucha glykosylace, typ Ii","Deficit mannosyltransferázy 2","Syndrom s deficitem karbohydrátového glykoproteinu typ Ii"]},"uk":{"name":"ALG2-CDG","synonyms":["Вуглеводно-дефіцитний глікопротеїновий синдром II типу","Синдром CDG тип II","CDG1I","CDG-ІІ","Вроджене порушення глікозилювання типу 1i","Вроджене порушення глікозилювання типу II","Дефіцит маннозилтрансферази 2"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene <i>ALG2</i> (9q31.1). Transmission is autosomal recessive."},"zh":{"name":"先天性糖基化障碍1i型","synonyms":["碳水化合物缺乏糖蛋白综合征Ii型"]},"tr":{"name":"ALG2-CDG","synonyms":["CDG1I","CDG-Ii","CDG sendromu tip Ii","Mannosiltransferaz 2 eksikliği","Tip 1i'nin Doğumsal bozukluğu","Tip II glikosilasyonun Doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip Ii"]}},"xrefs":[{"source":"OMIM","code":"607906","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":"1768777374"},{"source":"MONDO","code":"0011933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000623088","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842836","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9836","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"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":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALG2","name":"ALG2 alpha-1,3/1,6-mannosyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301507[PMID]","hgnc":"23159","ensembl":"ENSG00000119523","omim":"607905","loci":["9q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12684507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12684507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-17","source":"12684507[PMID]_30397276[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003642","label":"Type I transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006808","label":"Cerebral hypomyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}