{"orpha":324422,"name":"ALG13-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type Is","CDG-Is","CDG1S","Congenital disorder of glycosylation type 1s","Congenital disorder of glycosylation type Is"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324422/","orphanet_url":"https://www.orpha.net/en/disease/detail/324422","names":{"fr":{"name":"ALG13-CDG","synonyms":["Anomalie congénitale de la glycosylation type 1s","Anomalie congénitale de la glycosylation type Is","CDG-Is","CDG1S","Syndrome CDG type Is","Syndrome des glycoprotéines déficientes en hydrates de carbone type Is"],"definition":"Forme d'anomalie congénitale de la N-glycosylation caractérisée par une microcéphalie, une hépatomégalie, un oedème des extrémités, des crises convulsives ne répondant pas au traitement, des infections récurrentes et une tendance accrue aux hémorragies. La maladie est causée par des mutations du gène <i>ALG13</i> (Xq23)."},"de":{"name":"ALG13-CDG","synonyms":["CDG-Syndrom Typ Is","CDG1S","Kohlenhydrat-defizientes Glykoprotein-Syndrom 1s","Kongenitaler Defekt der Glycoproteinbiosynthese Typ Is","CDG (Congenital Disorder of Glycosylation) Typ Is","CDG-Is"]},"es":{"name":"ALG13-CDG","synonyms":["CDG-1s","CDG-Is","Síndrome CDG tipo Is","Trastorno congénito de la glicosilación tipo 1s","Trastorno congénito de la glicosilación tipo Is"],"definition":"Es un trastorno congénito de la N-glicosilación caracterizado por microcefalia, hepatomegalia, edema en las extremidades, convulsiones intratables, infecciones recurrentes y una tendencia incrementada al sangrado. La enfermedad está causada por mutaciones en el gen <i>ALG13</i> (Xq23)."},"it":{"name":"ALG13-CDG","synonyms":["CDG-Is","CDG1S","Disturbo congenito della glicosilazione, tipo 1s","Disturbo congenito della glicosilazione, tipo Is","Sindrome CDG, tipo Is"],"definition":"L'ALG13-CDG è una malattia congenita della N-glicosilazione, caratterizzata da microcefalia, epatomegalia, edema delle estremità, crisi epilettiche non trattabili, infezioni ricorrenti e tendenza alle emorragie. La malattia è causata da alcune mutazioni nel gene ALG13 (Xq23)."},"nl":{"name":"ALG13-CDG","synonyms":["CDG-Is","CDG-syndroom type Is","CDG1S","Congenitale defecten van de glycosylering type 1s","Congenitale defecten van de glycosylering type Is","Congenitale glycosylatiestoornis type 1s","Congenitale glycosylatiestoornis type Is"],"definition":"Een vorm van congenitale stoornis van N-glycosylatie, gekarakteriseerd door microcefalie, hepatomegalie, oedeem van ledematen, refractaire insulten, terugkerende infecties en verhoogde neiging tot bloeding. De ziekte wordt veroorzaakt door mutaties in het gen <i>ALG13</i> (Xq23)."},"pt":{"name":"SíndromeALG13 -CDG"},"pl":{"name":"ALG13-CDG","synonyms":["CDG1S","CDG-Is","Wrodzone zaburzenie glikozylacji typu Is","Wrodzone zaburzenie glikozylacji typu 1s","Zespół CDG typu Is"]},"cs":{"name":"ALG13-CDG","synonyms":["CDG syndrom, typ Is","CDG-Is","CDG1S","Vrozená poruchy glykosylace, typ 1s","Vrozená poruchy glykosylace, typ Is"]},"uk":{"name":"ALG13-CDG","synonyms":["CDG синдром тип Is","CDG1S","CDG-І","Вроджене порушення глікозилювання типу 1s","Вроджене порушення глікозилювання за типом Is"],"definition":"A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23)."},"zh":{"name":"ALG13基因型先天性糖基化障碍","synonyms":["先天性糖基化障碍Is型"],"definition":"一种先天性氮连接糖基化障碍，特征为小头畸形、肝肿大、四肢水肿、顽固性癫痫发作、反复感染和出血倾向增加。这种疾病是由基因ALG13(Xq23)的突变引起的。"},"tr":{"name":"ALG13-CDG","synonyms":["CDG1S","CDG-Is","CDG sendromu tipi","Glikozilasyon 1s tipinin doğumsal bozukluğu","Glikozilasyon Is tipinin doğumsal bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"300884","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":"attributed","validated":true},{"source":"MONDO","code":"0010472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4317295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12401","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALG13","name":"ALG13 UDP-N-acetylglucosaminyltransferase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22492991[PMID]","hgnc":"30881","ensembl":"ENSG00000101901","omim":"300776","loci":["Xq23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"22492991[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22492991[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-16","source":"26138355[PMID]","terms":[{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030047","label":"Abnormality of lateral ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null}]}}